Πέμπτη, 21 Σεπτεμβρίου 2017
Chronic Poststernotomy Pain: Incidence, Risk Factors, Treatment, Prevention, and the Anesthesiologist's Role.
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The Spread of Ultrasound-Guided Injectate From the Adductor Canal to the Genicular Branch of the Posterior Obturator Nerve and the Popliteal Plexus: A Cadaveric Study.
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Feeding issues are very common in individuals with CHARGE syndrome and can lead to increased morbidity and mortality. The aim of this study was to expand upon the limited knowledge base of feeding and gastrointestinal issues in individuals with CHARGE syndrome. Parents of individuals (age range 1–18 years) with CHARGE syndrome, with or without feeding/gastrointestinal issues, were recruited through international CHARGE syndrome associations and CHARGE syndrome Facebook pages. Parents completed three questionnaires: CHARGE diagnostic characteristics; Pediatric Assessment Scale for Severe Feeding Problems © and PedsQL™ Gastrointestinal Symptoms Scale; and open-ended questions. Sixty-nine completed questionnaires were included in the study analysis (median age 7; 58% females). Individuals who were completely tube fed (n = 21) had significantly more feeding difficulties than individuals who were either partially (n = 26) or completely orally fed (n = 20; p < 0.001). Tube fed individuals also experienced more problematic gastrointestinal symptoms (p < 0.001). Constipation (n = 19, 30%), vomiting (n = 12, 19%), and choking (n = 11, 17%) were reported by parents as the greatest challenges. Problems exist throughout the entire gastrointestinal tract in many individuals with CHARGE syndrome. These issues are more common in individuals who receive nutrition completely through a feeding tube compared to individuals with at least partial oral feeding behaviors.
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Expanding the phenotype of DNAJC3 mutations: A case with hypothyroidism additionally to diabetes mellitus and multisystemic neurodegeneration
Identification of this additional patient from a distant part of the originally described pedigree (Synofzik et al. 2014) confirms pathogenicity of DNAJC3 mutations. Hypothyroidism is a newly identified feature in addition to the known phenotype (diabetes with multisystemic neurodegeneration).
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Organelle genomes are among the most sequenced kinds of chromosome. This is largely because they are small and widely used in molecular studies, but also because next-generation sequencing (NGS) technologies made sequencing easier, faster, and cheaper. However, studies of organelle RNA have not kept pace with those of DNA, despite huge amounts of freely available eukaryotic RNA-sequencing (RNA-seq) data. Little is known about organelle transcription in non-model species, and most of the available eukaryotic RNA-seq data have not been mined for organelle transcripts. Here, we use publicly available RNA-seq experiments to investigate organelle transcription in 30 diverse plastid-bearing protists with varying organelle genomic architectures. Mapping RNA-seq data to organelle genomes revealed pervasive, genome-wide transcription, regardless of the taxonomic grouping, gene organization, or non-coding content. For every species analyzed, transcripts covered at least 85% of the mitochondrial and/or plastid genomes (all of which were ≤ 105 kb), indicating that most of the organelle DNA-coding and non-coding-is transcriptionally active. These results follow earlier studies of model species showing that organellar transcription is coupled and ubiquitous across the genome, requiring significant downstream processing of polycistronic transcripts. Our findings suggest that non-coding organelle DNA can be transcriptionally active, raising questions about the underlying function of these transcripts and underscoring the utility of publicly available RNA-seq data for recovering complete genome sequences. If pervasive transcription is also found in bigger organelle genomes (>105 kb) across a broader range of eukaryotes, this could indicate that non-coding organelle RNAs are regulating fundamental processes within eukaryotic cells.
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Mechanisms of Transmission Ratio Distortion at Hybrid Sterility Loci Within and Between Mimulus Species
Hybrid incompatibilities are a common correlate of genomic divergence and a potentially important contributor to reproductive isolation. However, we do not yet have a detailed understanding of how hybrid incompatibility loci function and evolve within their native species, or why they are dysfunctional in hybrids. Here, we explore these issues for a well-studied, two-locus hybrid incompatibility between hybrid male sterility 1 (hms1) and hybrid male sterility 2 (hms2) in the closely related yellow monkeyflower species Mimulus guttatus and M. nasutus. By performing reciprocal backcrosses with introgression lines, we find evidence for gametic expression of the hms1-hms2 incompatibility. Surprisingly, however, hybrid transmission ratios at hms1 do not reflect this incompatibility, suggesting additional mechanisms counteract the effects of gametic sterility. Indeed, our backcross experiment shows hybrid transmission bias toward M. guttatus through both pollen and ovules, an effect that is particularly strong when hms2 is homozygous for M. nasutus alleles. In contrast, we find little evidence for hms1 transmission bias in crosses within M. guttatus, providing no indication of selfish evolution at this locus. Although we do not yet have sufficient genetic resolution to determine if hybrid sterility and transmission ratio distortion map to the same loci, our preliminary fine-mapping uncovers a genetically independent hybrid lethality system involving at least two loci linked to hms1. This fine-scale dissection of transmission ratio distortion at hms1 and hms2 provides insight into genomic differentiation between closely related Mimulus species and reveals multiple mechanisms of hybrid dysfunction.
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In persons with spinal cord injury, lower thoracic low frequency spinal cord stimulation (LF-SCS, 50Hz,15mA) is a useful method to restore an effective cough. Unfortunately, the high stimulus amplitude requirements and potential activation of pain fibers significantly limits this application in persons with intact sensation. In this study, the mechanism of the expiratory muscle activation, via high frequency SCS (HF-SCS;500Hz,1mA) was evaluated in dogs. In group one, the effects of electrode placement on airway pressure generation (P) was evaluated. Maximal P occurred at the T9-T10 level with progressive decrements in P at more rostral and caudal levels for both LF-SCS and HF-SCS. In group two, EMG latencies of internal intercostal muscle (II) activation were evaluated before and after spinal root section and during direct motor root stimulation. Onset time of II EMG activity during HF-SCS was significantly longer (3.84±1.16ms) than obtained during direct motor root activation (1.61±0.0.1ms). In group three, P and external oblique (EO) EMG activity, before and after sequential spinal section at the T11/T12 level were evaluated. Bilateral dorsal column section, significantly reduced EO EMG activity below the section and resulted in a substantial fall in P. Subsequent lateral funiculi section completely abolished those activities and resulted in further reductions in P. We conclude that: 1) activation of the expiratory muscles via of HF-SCS is dependent entirely upon synaptic spinal cord pathways and 2) HF-SCS at the T9 level produces a comparable level of muscle activation to that achieved with LF-SCS, but with much lower stimulus amplitudes.
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Surface electrical stimulation of the laryngeal region is used to improve swallowing in dysphagic patients. However, little is known about how electrical stimulation affects tongue movements and related functions. We investigated the effect of electrical stimulation on tongue pressure and hyoid movement, as well as supra- and infrahyoid muscle activity, in 18 healthy young participants. Electrical stimulation (0.2 ms duration, 80 Hz, 80% of each participant's maximal tolerance) of the laryngeal region was applied. Each subject swallowed 5 mL of barium sulfate liquid 36 times at 10-s intervals. During the middle 2 min, electrical stimulation was delivered. Tongue pressure, electromyographic activity of the supra- and infrahyoid muscles, and videofluorographic images were simultaneously recorded. Tongue pressure during stimulation was significantly lower than before or after stimulation and was significantly greater after stimulation than at baseline. Suprahyoid activity after stimulation was larger than at baseline, while infrahyoid muscle activity did not change. During stimulation, the position of the hyoid at rest was descended, the highest position of hyoid was significantly inferior, and the vertical movement was greater than before or after stimulation. After stimulation, the hyoid at rest and at the maximum elevation were more superior than before stimulation. The deviation of the highest positions of the hyoid before and after stimulation corresponded to the differences in tongue pressures at those times. These results suggest that surface electrical stimulation applied to the laryngeal region during swallowing may facilitate subsequent hyoid movement and tongue pressure generation after stimulation.
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Contribution of structural brain phenotypes to the variance in resting energy expenditure in healthy Caucasian subjects
Background: Brain gray (GM) and white matter (WM) volumes are related to weight changes. The impact of structural variations in GM and WM on the variance in resting energy expenditure (REE) and the REE on fat free mass (FFM) association is unknown. The aim of this study was to address this in healthy Caucasian subjects. Methods: Cross-sectional data analysis of 493 healthy Caucasian subjects (age range 6 to 80 years; three age groups) with comprehensive information on FFM, organ and tissue masses and detailed brain composition as assessed by whole body magnetic resonance imaging (MRI) and REE (assessed by indirect calorimetry). REE was calculated (REEc) using organ and tissue masses times their specific metabolic rates. Results: FFM was the major determinant of REE (70.6%), individual masses of liver, total brain and heart explained further 2.1% of the variance in REE. Replacing total brain by GM and WM did not change the total R². Nevertheless, GM added more to the variance in REE (5.6%) and corresponding residuals (12.5%) than total brain. Additionally, up to 12% were explained by age and sex (<2%). There was a systematic bias between REE and REEc with positive values in younger subjects but negative values in the older ones. This bias remained after substituting the specific metabolic rate of brain by the specific metabolic rates of GM and WM. Conclusion: In healthy Caucasian subjects, GM and WM contributed to the variance in REE. Detailed brain structures do not explain the bias between REE and REEc.
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Short term dietary curcumin supplementation reduces gastrointestinal barrier damage and physiological strain responses during exertional heat stress
Purpose: This work investigated the effect of 3d of 500mg/d dietary curcumin supplementation on gastrointestinal (GI) barrier damage and systems-physiology responses to exertional heat stress in non-heat acclimated humans. Methods: Eight participants ran (65%VO2max) for 60min in a Darwin® chamber (37°C/25%RH) two times (Curcumin/Placebo). Intestinal fatty acid binding protein (I-FABP) and associated pro-inflammatory (MCP-1, TNFα, IL-6) and anti-inflammatory (IL-1RA, IL-10) cytokines were assayed from plasma collected before (Pre), after (Post), 1hr (1-Post), and 4hrs after (4-Post) exercise. Core temperature and HR were measured throughout exercise; the Physiological Strain Index (PSI) was calculated from these variables. Condition differences were determined with 2-Way (Condition x Time) RM ANOVAs. Results: The interaction of Condition x Time was significant (p=0.05) for I-FABP and IL-1RA. Post hoc analysis indicated I-FABP increased more from Pre to Post (87%) and 1-Post (33%) in Placebo than in Curcumin (58% & 18%, respectively). IL-1RA increased more from Pre to 1-Post in Placebo (153%) than in Curcumin (77%). TNFα increased (p=0.01) from Pre to Post (19%) and 1-Post (24%) in Placebo but not in Curcumin (p>0.05). IL-10 increased (p<0.01) from Pre to Post (61%) and 1-Post (42%) in Placebo not in Curcumin (p>0.05). The PSI, which indicates exertional heatstroke (EHS) risk, was also lower (p<0.01) in Curcumin than Placebo from 40-60 min of exercise. Conclusion: These data suggest 3d curcumin supplementation may improve GI function, associated cytokines, and systems-level physiology responses during exertional heat stress. This could help reduce EHS risk in non-heat acclimated individuals.
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Daily resistance-type exercise stimulates overall muscle protein synthesis rates in vivo in young males
Background: Resistance-type exercise increases muscle protein synthesis rates during acute post-exercise recovery. The impact of resistance-type exercise training on (local) muscle protein synthesis rates under free living conditions on a day-to-day basis remains unclear. Objective: To determine the impact of daily unilateral resistance-type exercise on local myofibrillar protein synthesis rates during a three-day period. Methods: Twelve healthy young males (22±1 y) were recruited to participate in this study where they performed daily, unilateral resistance-type exercise during a three-day intervention period. Two days prior to the exercise training subjects ingested 400 mL deuterated water (2H2O). Additional 50 mL doses of deuterated water were ingested daily during the training period. Saliva and blood samples were collected daily to assess body water and amino acid precursor deuterium enrichments, respectively. Muscle tissue biopsies were collected before and after the three days of unilateral resistance-type exercise training from both the exercised and the non-exercised, control leg for the assessment of muscle protein synthesis rates. Results: Deuterated water dosing resulted in a steady state body water enrichment of 0.70±0.03 %. Intramuscular free 2H-alanine enrichment increased up to 1.84±0.06 MPE prior to the exercise training, and did not change in both the exercised and control leg during the 3 subsequent exercise training days (2.11±0.11 and 2.19±0.12 MPE, respectively; P>0.05). Muscle protein synthesis rates averaged 1.984±0.118 and 1.642±0.089 %·d-1 in the exercised vs non-exercised, control leg when assessed over the entire three-day period (P<0.05). Conclusions: Daily resistance-type exercise stimulates (local) muscle protein synthesis rates in vivo in humans.
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Effect of tapering after a period of high-volume sprint interval training on running performance and muscular adaptations in moderately trained runners
The effect of tapering following a period of high-volume sprint interval training (SIT) and a basic volume of aerobic training on performance and muscle adaptations in moderately trained runners was examined. Eleven (8 males, 3 females) runners (maximum oxygen uptake (VO2-max): 56.8±2.9 mL·min-1·kg-1; mean±SD) conducted high-volume SIT (HV; 20 SIT sessions; 8-12 x 30-s all-out) for 40 days followed by 18 days of tapering (TAP; 4 SIT sessions; 4 x 30-s all-out). Before and after HV as well as midway through and at the end of TAP, the subjects completed a 10-km running test and a repeated running test at 90% of vVO2-max to exhaustion (RRT). In addition, a biopsy from m. vastus lateralis was obtained at rest. Performance during RRT was better (P<0.01) at the end of TAP than before HV (6.8±0.5 vs 5.6±0.5 min; means±SE), and 10-km performance was 2.7% better (P<0.05) midway through (40.7±0.7 min) and at the end of TAP (40.7±0.6 min) than after HV (41.8±0.9 min). The expression of muscle Na+,K+-ATPase (NKA)α1, NKAβ1, phospholemman (FXYD1) and sarcoplasmic reticulum calcium transport ATPase (SERCA1) increased (P<0.05) during HV and remained higher during TAP. In addition, oxygen uptake at 60% of vVO2-max was lower (P<0.05) at the end of TAP than before and after HV. Thus, tapering after a period of high-volume SIT improved 10-km performance and running economy, and short-duration exercise capacity was better than before the high-volume SIT period together with higher expression of muscle proteins related to Na+/K+ transport and Ca2+ re-uptake.
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Brachial artery vasodilatory response and wall shear rate determined by multi-gate Doppler in a healthy young cohort
Wall shear rate (WSR) is an important stimulus for the brachial artery flow-mediated dilation (FMD) response. However, WSR estimation near the arterial wall by conventional Doppler is inherently difficult. To overcome this limitation, we utilised multi-gate Doppler to accurately determine the WSR stimulus near the vessel wall simultaneously with the FMD response using an integrated FMD system [Ultrasound Advanced Open Platform (ULA-OP)]. Using the system, we aimed to perform a detailed analysis of WSR-FMD response and establish novel WSR parameters in a healthy young population. Data from 33 young healthy individuals (27.5±4.9yrs, 19F) were analysed. FMD was assessed with reactive hyperemia using ULA-OP. All acquired raw data were post-processed using custom-designed software to obtain WSR and diameter parameters. The acquired velocity data revealed that non-parabolic flow-profiles within the cardiac cycle and under different flow-states, with heterogeneity between participants. We also identified seven WSR magnitude and four WSR time-course parameters. Among them, WSR area under the curve until its return to baseline was the strongest predictor of the absolute (R2=0.25) and percentage (R2=0.31) diameter changes in response to reactive hyperemia. For the first time, we identified mono- and biphasic WSR stimulus patterns within our cohort that produced different magnitudes of FMD response [absolute diameter change: 0.24±0.10mm (monophasic) vs 0.17±0.09mm (biphasic), p<0.05]. We concluded that accurate and detailed measurement of the WSR stimulus is important to comprehensively understand the FMD response and that this advance in current FMD technology could be important to better understand vascular physiology and pathology.
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Heart rate variability (HRV) analysis is widely used to investigate the autonomic regulation of the cardiovascular system. HRV is often analyzed using RR time series, which can be affected by different types of artifacts. Although there are several artifact correction methods, there is no study that compares their performances in actual experimental contexts. This work aimed to evaluate the impact of different artifact correction methods on several HRV parameters. Initially, 36 ECG recordings of control rats or rats with heart failure or hypertension were analyzed to characterize artifacts occurrence rates and distributions, in order to be mimicked in simulations. After a rigorous analysis, only sixteen recordings (N=16) with artifact-free segments of at least 10.000 beats were selected. Then, RR interval losses were simulated in the artifact-free (reference) time series according to real observations. Correction methods applied to simulated series were deletion (DEL), linear interpolation (LI), cubic spline interpolation (CI), modified moving average window (mMAW) and nonlinear predictive interpolation (NPI). Linear (time- and frequency-domain) and nonlinear HRV parameters were calculated from corrupted-corrected time series, as well as for reference series to evaluate the accuracy of each correction method. Results show that NPI provides the overall best performance. However, several correction approaches, for example, the simple deletion procedure, can provide good performance in some situations, depending on the HRV parameters under consideration.
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Effect of adipose tissue thickness, muscle site, and sex on near-infrared spectroscopy derived total-[hemoglobin + myoglobin]
Adipose tissue thickness (ATT) attenuates signals from near-infrared spectroscopy (NIRS) and diminishes the absolute quantification of underlying tissues by contemporary NIRS devices. Based on the relationship between NIRS-derived total-[Hemoglobin+Myoglobin] (total-[Hb+Mb]) and ATT, we tested the hypotheses that the correction factor for ATT: 1) is muscle site specific; 2) does not differ between men and women; and 3) exclusion of the shortest source-detector distance from data analysis increases total-[Hb+Mb]. Fourteen healthy subjects (7 men) rested in a neutral body position (supine or prone) while measurements of total-[Hb+Mb] and ATT were taken at four muscles common to resting and exercise studies: vastus lateralis (VL), rectus femoris (RF), gastrocnemius (GS), and flexor digitorum superficialis (FDS). ATT averaged 6.0±0.4 mm across all muscles. Every muscle showed a negative slope (r2: 0.6-0.94; p<0.01) for total-[Hb+Mb] as a function of ATT: VL (-34 μM·mm-1), RF (-26 μM·mm-1), GS (-54 μM·mm-1), and FDS (-33 μM·mm-1). The projected total-[Hb+Mb] at 0 mm ATT (y-intercept) was 452, 372, 620, and 456 μM for VL, RF, GS, and FDS, respectively. No differences were found between the sexes within VL, RF, or FDS, but men had a greater projected total-[Hb+Mb] at 0 mm for GS (688±44 vs 552±40 μM; p<0.05). Exclusion of the shortest source-detector distance increased total-[Hb+Mb] by 12±1 μM (p<0.05). The present findings demonstrate that total-[Hb+Mb] should be corrected for ATT using muscle site specific factors which are not sex specific, except in the case of GS.
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Novel 9 amino acid in-frame deletion in the NTRK1 tyrosine kinase domain in a patient with congenital insensitivity to pain with anhydrosis
Schematic presentation of NTRK1 protein structure. Variants identified in this study are shown in red and previously reported variants associated with CIPA are shown in black (LRM, leucine rich motif; Ig, immunoglobulin-like domain; TM, transmembrane domain; TK, tyrosine kinase domain).
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Burden, etiology and predictors of visual impairment among children attending Mulago National Referral Hospital eye clinic, Uganda
Background: Childhood visual impairment (CVI) has not been given due attention. Knowledge of CVI is important in planning preventive measures. The aim of this study was determine the prevalence, etiology and the factors associated with childhood visual impairment among the children attending the eye clinic in Mulago National Referral Hospital.
Methods: This was a cross sectional hospital based study among 318 children attending the Mulago Hospital eye clinic between January 2015 to March 2015. Ocular and general history was taken and patient examination done. The data generated was entered by Epidata and analyzed by STATA 12.
Results: The prevalence of CVI was 42.14%, 134 patients with 49 patients (15.41%) having moderate visual impairment, 45 patients (14.15%) having severe visual impairment and 40 patients (12.58%) presenting with blindness. Significant predictors included; increasing age, delayed developmental milestones and having abnormal corneal, refractive and fundus findings.
Conclusion: There is a high burden of visual impairment among children in Uganda. It is vital to screen all the children presenting to hospital for visual impairment. Majority of the causes of the visual impairment are preventable.
Keywords: Visual impairment, Mulago National Referral Hospital, Eye clinic, Uganda
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Multidrug and vancomycin resistance among clinical isolates of Staphylococcus aureus from different teaching hospitals in Nigeria
Backgrounds: Staphylococcus aureus has emerged as a major public health concern because of the occurrence of multi-drug resistant strains. This study aimed at investigating the multi-drug and vancomycin resistance profile of S. aureus from different infection sites in some teaching hospitals in Nigeria.
Methods: Swabs were collected from different infection sites from out-patients in three teaching hospitals from October 2015 to May, 2016. The antibiotic-susceptibility test was carried out with selected antibiotics usually administered anti-microbials in the treatment of infections in these hospitals. The prevalence of multi-drug and vancomycin resistance strains of S. aureus from clinical samples was determined using disk diffusion and agar dilution methods respectively.
Results: The result showed (165)82.5% of the isolates were resistant to ≥3 antibiotics tested. They were highly resistant to ceftazidime 180(90%), cloxacillin 171(85.6%) and augmentin 167(83.3%), but susceptible to ofloxacin 150(75%), gentamicin 142(71.7%), erythromycin 122(61.1%), ceftriaxone 111(55.6%) and cefuroxime 103(51.7%). All the isolates from the HVS were all multidrug resistant strains. While (56)90.16% were multidrug resistant (MDR) in urine samples, followed by (8)88.89% MDR strains in sputum, (37)88.81% MDR strains in semen, (49)71.64% MDR strains in wounds and (6)60% MDR strains in ear swabs samples. Although (147)73.5% of the isolates were vancomycin susceptible S. aureus (VSSA), (30)15% were vancomycin intermediate resistant S. aureus (VISA) and (89)44.5% of the isolates were considered vancomycin resistant S. aureus (VRSA).
Conclusions: The high percentage of the VRSA could have resulted from compromising treatment options and inadequate antimicrobial therapy. The implication, infections caused by VRSA would be difficult to treat with vancomycin and other effective antibiotics of clinical importance. Ensuring proper monitoring of drug administration will, therefore, enhance the legitimate role of vancomycin as an empiric choice for both prophylaxis against and treatment of staphylococcal infections.
Keywords: Bacterial resistance, vancomycin resistant S. aureus, susceptibility studies, agar dilution
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Efficacy of combined traditional Chinese medicine spray with premature ejaculation desensitization therapy for the treatment of primary premature ejaculation
Objectives: We recommend a new kind of spray made from eight kinds of traditional Chinese medicine, we aimed to investigate the safety and clinical efficacy of combined traditional Chinese medicine spray (TCMS) with premature ejaculation desensitization therapy (PEDT) for the treatment of primary premature ejaculation (PPE).
Methods: A total of 90 patients with PPE were randomly assigned to receive TCMS, PEDT monotherapy or TCMS plus PEDT combination therapy for 6 weeks. Intravaginal ejaculation latency time (IELT) and Chinese index of sexual function for premature ejaculation (CIPE-5) were measured to evaluate the effect of each treatment.
Results: Eighty six (86) participants completed the study voluntarily. Both IELT and CIPE-5 in these three groups increased after treatment when compared with baseline levels (p< 0.01). IELT and CIPE-5 after treatment in TCMS plus PEDT group were significantly higher than those in the other two groups (both p <0.05). Additionally, clinical efficacy in TCMS plus PEDT group (89.7%) was significantly higher than in TCMS (65.5%) and PEDT group (67.9%) (p< 0.01).
Conclusion: The self-made TCMS was safe and effective for the treatment of PPE, a combination of TCMS and PEDT therapy was more effective than the TCMS or PEDT monotherapy.
Keywords: Primary premature ejaculation (PPE); traditional Chinese mdicine spray (TCMS); premature ejaculation desensitization training therapy (PEDT); Intravaginal ejaculation latency time (IELT); Chinese index of sexual function for premature ejaculation (CIPE-5)
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Early sexual debut: prevalence and risk factors among secondary school students in Ido-ekiti, Ekiti state, South-West Nigeria
Background: Early adolescent sexual activity remains a recurring problem with negative psychosocial and health outcomes. The age at sexual debut varies from place to place and among different individuals and is associated with varying factors. The aim was to determine the prevalence and risk factors of early sexual debut among secondary school students in Ido-Ekiti, South-West Nigeria.
Methodology: This was a cross-sectional study. The respondents were selected using multi-stage sampling technique. Pre-tested, semi-structured, self-administered questionnaire was used to collect data. Data was analyzed using SPSS version 15.
Results: More than two-thirds, 40(67.8%), had early sexual debut. The prevalence of early sexual debut was about 11%. The mean age of sexual debut was 13.10±2.82; the mean age for early sexual debutants was 11.68±1.98. The mean number of sexual partners was 2.44±1.99. Male gender, having friends who engaged in sexual activities had association with early sexual exposure (p<0.05). Alcohol intake had the strongest strength of association for early sexual debut among the students.
Conclusion: The high prevalence of early sexual exposure among the students calls for urgent interventions to stem the trend. This will help to reduce the devastating negative psycho-social and health sequels.
Keywords: Sexual debut, prevalence, risk factors, Nigeria
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Background: Medical students are at risk of common mental disorders due to difficulties of adjustment to the medical school environment, exposure to death and human suffering. However there is limited data on this aspect. Therefore, the current study assessed the magnitude of common mental disorders and contributing factors among medical students.
Methods: An institutional based cross-sectional study was conducted from May 12–16, 2015 using stratified sampling technique. Three hundred and five medical students participated in the study. Common mental disorders were assessed using the self-reported questionnaire (SRQ-20). Logistic regression analysis was used to identify factors associated with common mental disorders among students. Adjusted odds ratios with 95% confidence interval were computed to determine the level of significance.
Result: Prevalence of common mental disorders among medical students was 35.2%. Being female, younger age, married, having less than 250 birr monthly pocket money, attending pre-clinical class, khat chewing, smoking cigarettes, alcohol drinking and ganja/shisha use were significantly associated with common mental disorders.
Conclusion: The overall prevalence of common mental disorders among medical students was high. Therefore, it is essential to institute effective intervention strategies giving emphasis to contributing factors to common mental disorders.
Keywords: Common mental disorders, medical students, prevalence, Ethiopia
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Background: Sexual function is an essential component of life and yet very little is known about the relationships between the female sexuality and the mode of delivery.
Objective: To compare sexual outcomes after vaginal delivery and cesarean section.
Methods: A cross-sectional study was conducted on women in two stages; early pregnancy and 3 to 6 months after delivery in health centers. Female sexual outcomes evaluated were female Sexual Function Index scores and the time required to resume sexual activities after delivery.
Results: Sexual function did not differ significantly among two groups vaginal delivery n=90 and cesarean section n = 113 with regard to duration of marriage, educational level, contraception methods, and occupational status p = 0.8.The mean timing of the resumption of sexual activity was 8.9 ± 1.3, and there was no substantial conflict between the two groups. Mean frequency of intercourse in the post-partum period was 1.8±1.2 times per week with significant difference compared to pre pregnancy P<0.05. The individual domain scores after the delivery was significantly lower in comparison with pre-pregnancy p<0.004.
Conclusion: No differences in sexual outcomes between vaginal delivery and cesarean section. Consequently cesarean section cannot be recommended in the view of maintenance of normal sexuality after child birth.
Keywords: Women's health, cesarean section, post-partum, vaginal delivery, female sexual function
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Background: Falls are a major cause of disability, morbidity and mortality in older persons, but have been under researched in developing countries. .
Objective: To describe challenges encountered in a community-based study on falls in a multi-ethnic population aged ≥65 years in a low-income setting.
Methods: The study was conducted in four stages: A pilot study (n=105) to establish a sample size for the survey. An equipment validation study (n=118) to use for fall risk determination. A cross-sectional baseline (n=837) and a 12-month follow-up survey (n=632) to establish prevalence and risk factors for falls.
Results: Prevalence rate of 26.4% (95% CI 23.5-29.5%) and risk factors for recurrent falls: previous falls, self-reported poor mobility and dizziness were established. Adaptations to the gold standard prospective fall research study design were employed: 1) to gain access to the study population in three selected suburbs, 2) to perform assessments in a non-standardised setting, 3) to address subjects' poverty and low literacy levels, and high attrition of subjects and field workers.
Conclusion: Studies on falls in the older population of low- to middle-income countries have methodological challenges. Adaptive strategies used in the Cape Town study and the research experience reported may be instructive for investigators planning similar studies in such settings.
Keywords: Falls, older people, community-based research, low and middle income countries, methodology, study design
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Background: Unconsummated marriage is a problem among couples who would not be able to perform natural sexual intercourse and vaginal penetration. This disorder is more common in developing countries and sometimes couples would come up with non-technical and non-scientific methods to overcome their problem. Multi-dimensional approach and narrative exposure therapy used in this case.
Methods: This study would report a case of unconsummated marriage between a couple after 6 years. The main problem of this couple was vaginismus and post-traumatic stress.
Results: Treatment with multi-dimensional approach for this couple included methods like narrative exposure therapy, educating the anatomy of female and male reproductive system, correcting misconceptions, educating foreplay, educating body exploring and non-sexual and sexual massage and penetrating the vagina first by women finger and then men's after relaxation. The entire stages of the treatment lasted for four sessions and at the one-month follow-up couple's satisfaction was desirable.
Conclusion: Unconsummated marriage is one of the main sexual problems; it is more common in developing countries than developed countries and cultural factors are effective on intensifying this disorder. The use of multi-dimensional approach in this study led to expedite diagnosis and treatment of vaginismus.
Keywords: Unconsummated marriage, couple's therapy, vaginismus, behavioral therapy
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Anti-mycobacterium tuberculosis activity of polyherbal medicines used for the treatment of tuberculosis in Eastern Cape, South Africa
Background: The emergence of drug-resistant strains of Mycobacterium tuberculosis has become a global public health problem. Polyherbal medicines offer great hope for developing alternative drugs for the treatment of tuberculosis.
Objective: To evaluate the anti-tubercular activity of polyherbal medicines used for the treatment of tuberculosis.
Methods: The remedies were screened against Mycobacterium tuberculosis H37Rv using Middlebrook 7H9 media and MGIT BACTEC 960 system. They were liquid preparations from King Williams Town site A (KWTa), King Williams Town site B (KWTb), King Williams Town site C (KWTc), Hogsback first site (HBfs), Hogsback second site (HBss), Hogsback third site (HBts), East London (EL), Alice (AL) and Fort Beaufort (FB).
Results: The susceptibility testing revealed that all the remedies contain anti-tubercular activity with KWTa, KWTb, KWTc, HBfs, HBts, AL and FB exhibiting more activity at a concentration below 25 μl/ml. Furthermore, MIC values exhibited inhibitory activity with the most active remedies from KWTa, HBfs and HBts at 1.562 μg/ml. However, isoniazid showed more inhibitory activity against M. tuberculosis at 0.05 μg/ml when compare to the polyherbal remedies.
Conclusion: This study has indicated that these remedies could be potential sources of new anti-mycobacterial agents against M. tuberculosis. However, the activity of these preparations and their active principles still require in vivo study in order to assess their future as new anti-tuberculosis agents.
Keywords: Mycobacterium tuberculosis; in vitro activity, polyherbal medicines, South Africa
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A binary logistic regression model with complex sampling design of unmet need for family planning among all women aged (15-49) in Ethiopia
Background: Unintended pregnancy related to unmet need is a worldwide problem that affects societies. The main objective of this study was to identify the prevalence and determinants of unmet need for family planning among women aged (15-49) in Ethiopia.
Methods: The Performance Monitoring and Accountability2020/Ethiopia was conducted in April 2016 at round-4 from 7494 women with two-stage-stratified sampling. Bi-variable and multi-variable binary logistic regression model with complex sampling design was fitted.
Results: The prevalence of unmet-need for family planning was 16.2% in Ethiopia. Women between the age range of 15-24 years were 2.266 times more likely to have unmet need family planning compared to above 35 years. Women who were currently married were about 8 times more likely to have unmet need family planning compared to never married women. Women who had no under-five child were 0.125 times less likely to have unmet need family planning compared to those who had more than two-under-5.
Conclusion: The key determinants of unmet need family planning in Ethiopia were residence, age, marital-status, education, household members, birth-events and number of under-5 children. Thus the Government of Ethiopia would take immediate steps to address the causes of high unmet need for family planning among women.
Keywords: Complex sampling design, Ethiopia, family planning, Performance Monitoring and Accountability, unmet need
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Background and Objectives: Substantial climate changes have led to the emergence and re-emergence of various infectious diseases worldwide, presenting an imperative need to explore the effects of meteorological factors on serious contagious disease incidences such as that of meningococcal meningitis (MCM).
Methods: The incidences of MCM and meteorology data between 1981 and 2010 were obtained from Chaoyang city. Structure Equation Modeling was used to analyze the relationships between meteorological factors and the incidence of MCM, using the LISREL software.
Results: The SEM results showed that Adjusted Goodness of Fit Index (AGFI) = 0.30, Goodness of Fit Index (GFI) = 0.63, and Root Mean Square Error of Approximation (RMSEA) = 0.31. Humidity and temperature both had negative correlations with MCM incidence, with factor loads of -0.32 and -0.43, while sunshine was positively correlated with a factor load of 0.42. For specific observable variables, average air pressure, average evaporation, average air temperature, and average ground temperature exerted stronger influence, with item loads between observable variables and MCM incidence being -0.42, 0.34, -0.32, and -0.32 respectively.
Conclusion: Public health institutions should pay more attention to the meteorological variables of humidity, sunshine, and temperature in prospective MCM control and prevention.
Keywords: Meningococcal meningitis, Neisseria meningitidis, epidemiology, humidity, temperature, sunshine, meteorological variables, structure equation model
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Contribution of IgG avidity and PCR for the early diagnosis of toxoplasmosis in pregnant women from the North-Eastern region of Algeria
Background: Acute toxoplasmosis in pregnant women presents a high risk of Toxoplasma transmission to the fetus. Early diagnosis is difficult, especially when serological testing for IgG/IgM antibodies fail to differentiate between a recent and a past infection. In this case, we rely on IgG avidity or PCR assays.
Objectives: The aim of this study was to compare conventional ELISA and IgG avidity, with PCR using B1 and P30 primers for the early diagnosis of toxoplasmosis in pregnant women.
Methods: Sera were collected from 143 pregnant women and measured by ELISA for anti-Toxoplasma IgG, IgM, IgA and IgG avidity. DNA was extracted from 57 peripheral blood and 14 amniotic fluid samples for PCR amplification.
Results: A total of 57 out 143 women were seropositive: 30 (52.6%) were IgG+/IgM- and 27 (43.8%) were IgG+/IgM+; IgA antibodies were positive in 7 (12.2%) cases. IgG avidity was low in 9 women suggesting an acute infection; 3 women presented an intermediate avidity. PCR detected Toxoplasma DNA in 9 women presenting low avidity and was negative for the intermediate avidity cases.
Conclusion: PCR combined to avidity IgG performed better than ELISA IgG, IgM and/or IgA assays alone. PCR was useful in the case of intermediate avidity.
Keywords: Toxoplasmosis, pregnant women, serology, IgG avidity, PCR
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Objective: To determine the burden and factors associated with post-stroke depression in East central Nigeria.
Method: We carried out this cross-sectional study of 50 stroke survivors (mean age=54.8 ± 8.8 years), at the physiotherapy Department of the University of Nigeria Teaching Hospital, Enugu. Data were collected using Becks Depression Inventory , it was analyzed using Z-scores, Chi-square test and univariate logistic regression.
Results: PSD was more common in females (45.45%); middle-age(60%) adults (27-36/47-56 years respectively); living with spouse (45%); left cerebral lesions (40.74%). Self-employed and unemployed (66.67%), respectively. Age was significantly associated with depression (p=0.03), and was related to the risk ofOR3.7 (95% CI 1.1-12.0 )
Conclusion: Age could be a risk factor for PSD, which was more prevalent in the elderly than young/middle-age adults, female gender, left cerebral lesion, complications, cold case; those living with a spouse, self-employed and unemployed.
Keywords: Symptoms of post-stroke depression, modifiable characteristics of the vulnerable patients, African socio-cultural context
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Compliance with the consumption of iron and folate supplements by pregnant women in Mafikeng local municipality, North West province, South Africa
Background: Anaemia due to iron deficiency is recognized as one of the major nutritional deficiencies in women and children in developing countries. Daily iron supplementation for pregnant women is recommended in many countries. The aim of the study was to investigate the factors that contribute to compliance to the consumption of iron and folate supplements by pregnant woman in Mafikeng local municipality, North West Province, South Africa.
Research Methods: A mixed method of descriptive, exploratory and cross-sectional design was used. Ten clinics were used as a sample frame where 57 pregnant women and 10 health workers were purposefully and conveniently selected. Quantitative techniques were used to collect data on attendance, consumption and nutrition knowledge using the self-reported questionnaire by pregnant women, and structured interview for health workers. Qualitative design was used to conduct in - depth focus-group discussions to gather information on compliance to the consumption of supplements by pregnant women.
Findings: The findings of the study revealed good antenatal clinic attendance, availability of supplements and 93% compliance to the consumption of iron and folate supplements.
Recommendations: High compliance to the consumption of iron and folate supplements by pregnant women was reported, and this should be reinforced.
Keywords: Iron and folate supplements, Mafikeng local municipality, North West province, South Africa
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Cigarette smoke condensate attenuates phorbol ester-mediated neutrophil extracellular trap formation
Background: Neutrophil extracellular traps (NETs) constitute a network of chromatin fibres containing histone and antimicrobial peptides that are released by activated neutrophils. NETs protect the host against infection by trapping and facilitating phagocytosis of potentially harmful pathogens.
Objectives: The aim of the current study was to investigate the effects of cigarette smoke condensate (CSC) on phorbol-ester (PMA)-mediated NETosis in vitro.
Methods: Isolated human blood neutrophils were exposed to PMA (6.25 ng/ml) in the presence or absence of CSC (40-80 μg/ ml) for 90 min at 37oC. NET formation was measured using a spectrofluorimetric procedure to detect extracellular DNA and fluorescence microscopy was used to visualize nets. Oxygen consumption by PMA-activated neutrophils was measured using an oxygen sensitive electrode.
Results: Activation of neutrophils with PMA was associated with induction of NETosis that was significantly attenuated in the presence of CSC (40 and 80 μg/ml), with mean fluorescence intensities of 65% and 66% of that observed with untreated cells, respectively, and confirmed by fluorescence microscopy. The rate and magnitude of oxygen consumption by activated neutrophils pre-treated with CSC (80 μg/ml) was significantly less than that observed with untreated cells (73% of the control system), indicative of decreased production of reactive oxidants in the presence of CSC.
Conclusion: The inhibition of NETosis observed in the presence of CSC correlated with attenuation of oxygen consumption by PMA-activated neutrophils suggesting a mechanistic relationship between these events. If operative in vivo, smoking-related attenuation of NETosis may impair host immune responses and increase the risk of respiratory infections.
Keywords: Neutrophils, reactive oxygen species, respiratory infection, smoking
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Background: Obstetric fistula is a maternal morbidity creating devastating health problems for the women. Continuous and uncontrollable leaking of urine or faeces from vagina can lead to life changing stigmatization for women in third world countries. The underlying factors and consequences of this problem are not yet fully identified and adequately documented in Ethiopia.
Methods: This study is based on the Ethiopian Demographic and Health Survey data (EDHS, 2005). The survey collected information on a total of 14,070 women who were interviewed face to face on their background characteristics as well as reproductive health issues, out of which 3178 women had complete measurements and were considered in this study. Descriptive and binary logistic regressions techniques were used using demographic, socio-economic, health and environmental related variables as explanatory variables and status of obstetric fistula as a response variable.
Results: The results showed that geographical region, place of residence, educational status, age at first birth, age at first marriage, employment status, place of delivery and follow up of antenatal care during pregnancy were significant determinant factors of obstetric fistula in Ethiopia.
Conclusion: The study showed that demographic, socio-economic, environmental and health related variables have an important effect on determinants of obstetric fistula in Ethiopia.
Keywords: Obstetric fistula, logistic regression, determinant factors
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Background: Iron fortification of foods is currently a strategy employed to fight iron deficiency in countries. Liposomes were assumed to be a potential carrier of iron supplements.
Objective: The objective of this study was to investigate the iron transport from ferrous glycinate liposomes, and to estimate the effects of liposomal carriers, phytic acid, zinc and particle size on iron transport using Caco-2 cell models.
Methods: Caco-2 cells were cultured and seeded in DMEM medium. Minimum essential medium was added to the basolateral side. Iron liposome suspensions were added to the apical side of the transwell.
Results: The iron transport from ferrous glycinate liposomes was significantly higher than that from ferrous glycinate. In the presence of phytic acid or zinc ion, iron transport from ferrous glycinate liposomes and ferrous glycinate was evidently inhibited, and iron transport decreased with increasing phytic acid concentration. Iron transport was decreased with increase of particle size increasing of ferrous glycinate liposome.
Conclusion: Liposomes could behave as more than a simple carrier, and iron transport from liposomes could be implemented via a mechanism different from the regulated non-heme iron pathway.
Keywords: Ferrous glycinate liposomes, iron transport, phytic acid, particle size
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Background: Violence by intimate partner during pregnancy has many adverse pregnancy outcomes. Thus, that's why we sought to determine association between intimate partner violence during pregnancy and adverse birth outcomes.
Methods: A facility based cross-sectional study was conducted among 183 recently delivered women from March 31- April 30, 2014 in public health facilities of Hossana Town. The data were collected through structured questionnaire and record review. Women who were not mentally and physically capable of being interviewed and those admitted for abortion were excluded. Ethical clearance was obtained from Jimma University. Logistic regression analysis was employed to determine the association between intimate partner violence and adverse birth outcomes.
Results: About 23 % of women experienced intimate partner violence during pregnancy. The result of this study indicated an association of intimate partner violence with low birth weight of the new born (AOR:14.3,95% CI: (5.03, 40.7). Intimate partner violence was not associated with still birth, pre-term birth and Apgar score less than 7 at 5 minutes.
Conclusion: The findings of this study showed that intimate partner violence during pregnancy was associated with a low birth weight of the new born. Health sectors should train health care providers on how to screen, counsel, treat and follow up abused women.
Keywords: Intimate partner violence, birth outcomes, Ethiopia
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Introduction: Data regarding the association between diabetes mellitus (DM) and tuberculosis (TB) in Africa are scarce. DM screening among TB patients in Mozambique was carried out.
Methods: The study was implemented from January to August 2016 in three Urban Health Centers in Beira, Mozambique and recruited adult (>18 years) patients newly diagnosed with pulmonary TB.
Results: Three hundred and one patients were enrolled (67.4%, males mean age 31.7(SD 11 years). Diabetes was diagnosed in only 3 patients (1%) and impaired glucose tolerance (IGT) in an additional 6 subjects (2%).
Conclusion: A lower than expected prevalence of DM was observed, which could be explained by the lack of traditional risk factors for DM (overweight, age over 45 years, hypertension and smoking) in Mozambique.
Keywords: Diabetes mellitus, pulmonary tuberculosis, Beira, Mozambique
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Two-Stage Silver Sintering Process Improves Sheet Resistance, Film Uniformity, and Layering Properties via Electrohydrodynamic Jet Printing
3D Printing and Additive Manufacturing Sep 2017, Vol. 4, No. 3: 165-171.
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3D Printing and Additive Manufacturing Sep 2017, Vol. 4, No. 3: 149-156.
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3D Printing and Additive Manufacturing Sep 2017, Vol. 4, No. 3: 123-132.
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3D Printing and Additive Manufacturing Sep 2017, Vol. 4, No. 3: 121-121.
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Rapid Fabrication of Multilayer Microfluidic Devices Using the Liquid Crystal Display-Based Stereolithography 3D Printing System
3D Printing and Additive Manufacturing Sep 2017, Vol. 4, No. 3: 156-164.
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3D Printing and Additive Manufacturing Sep 2017, Vol. 4, No. 3: 143-148.
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3D Printing and Additive Manufacturing Sep 2017, Vol. 4, No. 3: 172-181.
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Publication date: December 2017
Source:Journal of Human Evolution, Volume 113
Author(s): Laura Buti, Adeline Le Cabec, Daniele Panetta, Maria Tripodi, Piero A. Salvadori, Jean-Jacques Hublin, Robin N.M. Feeney, Stefano Benazzi
Enamel thickness figures prominently in studies of human evolution, particularly for taxonomy, phylogeny, and paleodietary reconstruction. Attention has focused on molar teeth, through the use of advanced imaging technologies and novel protocols. Despite the important results achieved thus far, further work is needed to investigate all tooth classes. We apply a recent approach developed for anterior teeth to investigate the 3D enamel thickness of Neandertal and modern human (MH) canines.In terms of crown size, the values obtained for both upper and lower unworn/slightly worn canines are significantly greater in Neandertals than in Upper Paleolithic and recent MH.The 3D relative enamel thickness (RET) is significantly lower in Neandertals than in MH. Moreover, differences in 3D RET values between the two groups appear to decrease in worn canines beginning from wear stage 3, suggesting that both the pattern and the stage of wear may have important effects on the 3D RET value. Nevertheless, the 3D average enamel thickness (AET) does not differ between the two groups. In both groups, 3D AET and 3D RET indices are greater in upper canines than in lower canines, and overall the enamel is thicker on the occlusal half of the labial aspect of the crown, particularly in MH. By contrast, the few early modern humans investigated show the highest volumes of enamel while for all other components of 3D enamel, thickness this group holds an intermediate position between Neandertals and recent MH.Overall, our study supports the general findings that Neandertals have relatively thinner enamel than MH (as also observed in molars), indicating that unworn/slightly worn canines can be successfully used to discriminate between the two groups. Further studies, however, are needed to understand whether these differences are functionally related or are the result of pleiotropic or genetic drift effects.
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Re-evaluating the diets of Morotopithecus bishopi and Afropithecus turkanensis: An anterior dentognathic perspective
Publication date: November 2017
Source:Journal of Human Evolution, Volume 112
Author(s): Andrew S. Deane
Afropithecus turkanensis (17–17.5 Ma; Kalodirr, Buluk, Locherangan, Moruorot, Nabwal Hills; Kenya) and Morotopithecus bishopi (20.6 Ma; Moroto II; Uganda) are both large-bodied catarrhines from the early Miocene of eastern Africa with relatively primitive cranial and postcanine dental morphology. They are primarily differentiated by a temporal separation of ∼3.6 million years and by postcranial samples suggesting that M. bishopi was capable of orthograde postures and below-branch arboreality, while A. turkanensis was most likely a pronograde quadruped. Several researchers dispute the validity of the postcranial and dating evidence and argue that M. bishopi and A. turkanensis may be congeneric or even conspecific. Although A. turkanensis possesses a derived suite of specialized anterior dentognathic characters that are functionally convergent with extant pitheciins and associated with sclerocarp foraging and maxillary canine dietary function, a similar analysis of M. bishopi anterior dentognathic anatomy is presently lacking. The current study addresses this shortcoming via a detailed morphometric analysis of relevant A. turkanensis and M. bishopi specimens preserving the anterior palate, maxillary canines and incisors. Results indicate that the anterior dentognathic morphologies of A. turkanensis and M. bishopi are distinct and represent significantly dissimilar feeding adaptations. Specifically, M. bishopi lacks the elongated and anteriorly narrow premaxilla, lateral incisors that are more posterior and mesially positioned relative to the central incisors, and pronounced yet evenly distributed mesial curvature of the maxillary canine that are shared by A. turkanensis and extant pitheciins. Given that A. turkanensis anterior dentognathic morphology is functionally convergent with extant pitheciins to the exclusion of M. bishopi, it is likely that M. bishopi and A. turkanensis have dissimilar feeding adaptations. Although a systematic analysis is required to verify these species at the generic and species level, the absence of any substantial morphological similarity in their anterior dentognathic anatomy is most consistent with the interpretation that M. bishopi and A. turkanensis represent, at the least, different species.
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Interoception is the process of perceiving afferent signals arising from within the body including heart rate (HR), gastric signals, etc., and has been described as a mechanism crucially involved in the creation of self-awareness and selfhood. The heartbeat perception task is a tool to measure individuals' interoceptive accuracy (IAcc). IAcc correlates positively with measures of self-awareness and with attributes including emotional sensitivity, empathy, prosocial behavior, and efficient decision making. IAcc is only moderate in the general population, and attempts to identify groups of people who might have higher IAcc due to their specific training (e.g., yoga, meditation) have not been successful. However, a recent study with musicians suggests that those trained in the arts might exhibit high IAcc. Here, we tested IAcc in 20 professional dancers and 20 female control participants on a heartbeat perception task. Dancers had a higher IAcc, and this effect was independent of their lower heart rates (a proxy measure of physical fitness), counting ability, and knowledge about HR. An additional between-groups analysis after a median split in the dancer group (based on years of dance experience) showed that junior dancers' IAcc differed from controls, and senior dancers' IAcc was higher than both junior dancers and controls. General art experience correlated positively with IAcc. No correlations were found between IAcc and questionnaire measures of empathy, emotional experience, and alexithymia. These findings are discussed in the context of current theories of interoception and emotion—highlighting the features of arts training that might be related to IAcc.
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Heart rate, measured in beats per minute, can be used as an index of an individual's physiological state. Each time the heart beats, blood is expelled and travels through the body. This blood flow can be detected in the face using a standard webcam that is able to pick up subtle changes in color that cannot be seen by the naked eye. Due to the light absorption spectrum of blood, we are able to detect differences in the amount of light absorbed by the blood traveling just below the skin (i.e., photoplethysmography). By modulating emotional and physiological stress—that is, viewing arousing images and sitting versus standing, respectively—to elicit changes in heart rate, we explored the feasibility of using a webcam as a psychophysiological measurement of autonomic activity. We found a high level of agreement between established physiological measures, electrocardiogram, and blood pulse oximetry, and heart rate estimates obtained from the webcam. We thus suggest webcams can be used as a noninvasive and readily available method for measuring psychophysiological changes, easily integrated into existing stimulus presentation software and hardware setups.
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Consistency of abnormal sensory gating in first-admission and chronic schizophrenia across quantification methods
The auditory P50/M50 ERP/event-related field is subject to sensory gating, with partial suppression of the amplitude of the second of two (S1 and S2) clicks presented 500 ms apart. Schizophrenia patients have less gating, although quantification methods and associated effect sizes vary across studies using first-admission and/or using chronic patients. The present study evaluated the impact of several methods of quantifying gating in first-admission (FA) and chronic (CHR) schizophrenia patients and in healthy controls (HC). Magnetoencephalogram was measured in 35 FA, 58 CHR, and 28 HC during a paired-click protocol. Sensory gating was quantified on sensor and source levels as a ratio (S2/S1) and as a S1-minus-S2 difference, with M50 amplitude scored relative to baseline and relative to M100 and to M40. Independent of quantification method, patients showed less sensory gating than HC, with medium-to-large effect sizes, without differences between FA and CHR. Results indicate that the frequently reported sensory gating deficit in schizophrenia is robust to variations in quantification methods and stage of disorder.
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Carpal Tunnel Syndrome: Effectiveness of Physical Therapy and Electrophysical Modalities. An Updated Systematic Review of Randomized Controlled Trials
Publication date: Available online 20 September 2017
Source:Archives of Physical Medicine and Rehabilitation
Author(s): Bionka M.A. Huisstede, Peter Hoogvliet, Thierry P.C. Franke, Manon S. Randsdorp, Bart W. Koes
ObjectiveTo review scientific literature studying the effectiveness of physical therapy and electrophysical modalities for carpal tunnel syndrome (CTS).Data SourcesThe Cochrane Library, PubMed, EMBASE, CINAHL, and PEDro.Study SelectionTwo reviewers independently applied the inclusion criteria to select potential eligible studies.Data ExtractionTwo reviewers independently extracted the data and assessed the methodological quality using the Cochrane Risk of Bias Tool.Data SynthesisA best-evidence synthesis was performed to summarize the results of the Included studies (2 reviews and 22 RCTs). For physical therapy moderate evidence was found for myofascial massage therapy versus ischemic compression on latent, or active trigger points, or low-level laser therapy in the short-term. For several electrophysical modalities moderate evidence was found in the short-term (ultrasound versus placebo, ultrasound as single intervention versus other non-surgical interventions, ultrasound versus a corticosteroid injection plus a neutral wrist splint, local microwave hyperthermia versus placebo, iontophoresis versus phonophoresis, pulsed radiofrequency added to a wrist splint, continuous versus pulsed versus placebo shortwave diathermy, and interferential current versus transcutaneous electrical nerve stimulation versus a night only wrist splint). In the mid-term moderate evidence was found in favor of radial extracorporeal shockwave therapy (ESWT) added to a neutral wrist splint, in favor of ESWT versus ultrasound, or cryo-ultrasound, and in favor of ultrasound versus placebo. For all other interventions studied only limited, conflicting, or no evidence was found. No RCTs investigating the long-term effects of physical therapy and electrophysical modalities were found. Because of heterogeneity in the treatment parameters used in the included RCTs optimal treatment parameters could not be identified.ConclusionsModerate evidence was found for several physical therapy and electrophysical modalities for CTS in short-term and mid-term. Future studies should concentrate on long-term effects and which treatment parameters of physical therapy and electrophysical modalities are most effective for CTS.
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Kinematic analysis of a drinking task in chronic hemiparetic patients using features analysis and Statistical Parametric Mapping
Publication date: Available online 20 September 2017
Source:Archives of Physical Medicine and Rehabilitation
Author(s): Gabriela Lopes Santos, Thiago Luiz Russo, Angela Nieuwenhuys, Davide Monari, Kaat Desloovere
ObjectiveTo compare sitting posture and movement strategies between chronic hemiparetic and healthy subjects while performing a drinking task using Statistical Parametric Mapping (SPM) and feature analysis.DesignCross-sectional study.SettingDepartment of Physical Therapy of University.ParticipantsThirteen chronic hemiparetic and thirteen healthy individuals matched for gender and age.InterventionNot applicable.Main outcome measuresDrinking task was divided into phases: reaching, transporting the glass to mouth, transporting the glass to table, returning to initial position. SPM two-sample t test was used to compare the entire kinematic waveforms of different joint angles (trunk, scapulothoracic, humerothoracic, elbow). Joint angles at the beginning and end of the motion, movement time, peak velocity timing, trajectory deviation, normalized integrated jerk and range of motion were extracted from the motion data. Group differences for these parameters were analyzed using independent t-tests.ResultsAt the static posture and beginning of the reaching phase, patients showed a shoulder position more deviated from the midline and externally rotated with increased scapula protraction, medial rotation, anterior tilting, trunk anterior flexion and inclination to the paretic side. Altered spatiotemporal variables throughout the task were found in all phases, except for the returning phase. Patients returned to a similar posture as the task onset, except for scapula, which was normalized after the reaching phase.ConclusionsChronic hemiparetic subjects showed more deviations in the proximal joints during seated posture and reaching. However, the scapular movement drew nearer the healthy individuals patterns after the first phase, showing an interesting point to consider in rehabilitation programs.
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The Semmes-Weinstein Monofilament Examination for predicting physical performance and the risk of falls in older people: results from the Pro.V.A. longitudinal study
Publication date: Available online 20 September 2017
Source:Archives of Physical Medicine and Rehabilitation
Author(s): Pamela Carrer, Caterina Trevisan, Chiara Curreri, Valter Giantin, Stefania Maggi, Gaetano Crepaldi, Enzo Manzato, Giuseppe Sergi
Objectivesto investigate whether Semmes Weinstein Monofilament Examination (SWME) was associated with, and could predict measures of physical performance and the risk of fall in elderly subjects.Designprospective study (mean follow-up 4.4-years).Settingcommunity.Subjects2826 older subjects enrolled in the Progetto Veneto Anziani (Pro.V.A.), an Italian population-based cohort study. For longitudinal analyses, we considered a subsample of 1885 persons who did not report falls at baseline.Interventionsnot applicable.Main outcome measuresfalls reported in the year preceding the assessment and Short Physical Performance Battery (SPPB) were recorded at baseline and again after 4.4 years.ResultsAt baseline, 830 (29.4%) subjects had experienced falls in the previous year, with a higher prevalence of falls in those positive at SWME (SWME+) than in those negative at SWME (SWME-) (35.8% vs 28.0%, p=0.001). Using logistic regression, SWME+ subjects had a significant 66% higher risk of presenting worse SPPB score (95%CI: 1.51-1.83), and between 25% and 32% higher risks of having experienced at least one or recurrent falls, than those SWME-. The incidence of falls at follow-up was higher in the SWME+ compared with the SWME- group (42.2% vs 30.7%, p=0.001), and multinomial logistic regression showed that the former had a 13% higher risk of decline in SPPB scores (95%CI: 1.03-1.25), particularly for gait and balance, 48% higher risk of having had at least one fall and 77% higher risk of recurrent falls. At both baseline and follow-up, the larger the extension of neuropathy (SWME- vs unilateral vs bilateral SWME+), the greater its negative impact on falls and physical performance.ConclusionSMWE was associated with, and could predict lower-extremity physical performance and falls in older people.
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Measurement Characteristics and Clinical Utility of the Modified Fatigue Impact Scale in Individuals With Multiple Sclerosis
Publication date: Available online 21 September 2017
Source:Archives of Physical Medicine and Rehabilitation
Author(s): Ana Miskovic, Linda Ehrlich-Jones
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From clinical observations and molecular dissection to novel therapeutic strategies for primary immunodeficiency disorders
The field of primary immunodeficiency diseases (PID) is rapidly expanding with more than 300 genetically defined disorders that have been clinically described and molecularly analyzed. The molecular dissection of these entities has led to the discovery of new immunologic pathways and to novel and effective disease-specific therapies. This review provides a summary of these primary immune defects categorized by clinical phenotype and molecular similarity as defined by the International Union of Immunologic Societies (IUIS) Expert Committee for PID. In this synopsis, we discuss the molecular basis of various categories of PIDs including, but not limited to, severe combined immunodeficiencies, primary antibody deficiencies, immune dysregulation syndromes, as well as defects of the innate immune system such as phagocytic abnormalities, autoinflammatory fever syndromes, and complement deficiencies. We have attempted to focus on current strategies to prevent complications, ameliorate symptoms, or cure these disorders by promptly using antimicrobial therapies, immunoglobulin replacement, and hematopoietic stem cell transplantation. In addition, we will explore novel therapies such as molecularly targeted immunosuppression with monoclonal antibodies and specific immunomodulatory agents. Finally, we address experimental therapies targeting specific molecular defects, including gene therapy and gene editing.
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Triplication of chromosome 21 (trisomy 21) results in Down syndrome (DS), the most common live-born human aneuploidy. Individuals with DS have a unique facial appearance that can include form changes and altered variability. Using 3D photogrammatic images, 3D coordinate locations of 20 anatomical landmarks, and Euclidean Distance Matrix Analysis methods, we quantitatively test the hypothesis that children with DS (n = 55) exhibit facial form and variance differences relative to two different age-matched (4–12 years) control samples of euploid individuals: biological siblings of individuals with DS (n = 55) and euploid individuals without a sibling with DS (n = 55). Approximately 36% of measurements differ significantly between DS and DS-sibling samples, whereas 46% differ significantly between DS and unrelated control samples. Nearly 14% of measurements differ significantly in variance between DS and DS sibling samples, while 18% of measurements differ significantly in variance between DS and unrelated euploid control samples. Of those measures that showed a significant difference in variance, all were relatively increased in the sample of DS individuals. These results indicate that faces of children with DS are quantitatively more similar to their siblings than to unrelated euploid individuals and exhibit consistent, but slightly increased variation with most individuals falling within the range of normal variation established by euploid samples. These observations provide indirect evidence of the strength of the genetic underpinnings of the resemblance between relatives and the resistance of craniofacial development to genetic perturbations caused by trisomy 21, while underscoring the complexity of the genotype–phenotype map.
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The spectrum of DNMT3A variants in Tatton–Brown–Rahman syndrome overlaps with that in hematologic malignancies
De novo, germline variants in DNMT3A cause Tatton–Brown–Rahman syndrome (TBRS). This condition is characterized by overgrowth, distinctive facial appearance, and intellectual disability. Somatic DNMT3A variants frequently occur in hematologic malignances, particularly acute myeloid leukemia. The Arg882 residue is the most common site of somatic DNMT3A variants, and has also been altered in patients with TBRS. Here we present three additional patients with this disorder attributed to DNMT3A germline variants that disrupt the Arg882 codon, suggesting that this codon may be a germline mutation hotspot in this disorder. Furthermore, based on the investigation of previously reported variants in patients with TBRS, we found overlap in the spectrum of DNMT3A variants observed in this disorder and somatic variants in hematological malignancies.
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Women who carry a fragile X premutation are biologically older than noncarriers as measured by telomere length
Women who carry a fragile X premutation, defined as having 55–200 unmethylated CGG repeats in the 5′ UTR of the X-linked FMR1 gene, have a 20-fold increased risk for primary ovarian insufficiency (FXPOI). We tested the hypothesis that women with a premutation + FXPOI have shorter telomeres than those without FXPOI because they are "biologically older." Using linear regression, we found that women carrying a premutation (n = 172) have shorter telomeres and hence, are "biologically older" than women carrying the normal size allele (n = 81). Strikingly, despite having shorter telomeres, age was not statistically associated with their telomere length, in contrast to non-carrier controls. Further, telomere length within premutation carriers was not associated with repeat length but was associated with a diagnosis of FXPOI, although the latter finding may depend on FXPOI age of onset.
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A cohort study of multiple families with FBN1 p.R650C variant, ectopia lentis, and low but not absent risk for aortopathy
Marfan syndrome is a multisystem disease with cardiovascular, ophthalmologic, and skeletal features. Diagnosis is made clinically with emphasis on presence of aortic root dilation and ectopia lentis (EL). Most individuals meeting these criteria have a pathogenic variant in FBN1, usually unique or observed rarely. Individuals with EL alone may also have FBN1 pathogenic variants, and the risk for aortic disease is not well known. We identified a unique cohort of 31 individuals (mean age 29, range 2–78) from nine families ascertained by a proband with EL alone, who had the same FBN1 p.R650C variant. Comparison was made to individuals with Marfan syndrome (n = 103 from 97 families) at our institution. Those with the p.R650C variant had few skeletal features of Marfan syndrome. Age of onset of EL was later compared to others with cysteine variant changes. Aortic root dilation occurred in 4/16 (25%) of the p.R650C group versus 71/83 (86%) in the comparator group (p < 0.001) and dissection or replacement in 1/31 (3%) versus 20/103 (19%; p < 0.04). Aortic root Z scores were much lower in the p.R650C (0.34 ± 1.70) versus the comparator (2.99 ± 2.54; p < 0.0002). Kaplan–Meier failure curves for aortic root dilation demonstrated later age of onset and differed significantly for incidence rate ratio (comparator vs. p.R650C = 5.35, CI 1.84–21.17; p = 0.0001). Individuals with p.R650C predominantly have EL, but do have risk for aortic dilation at ages later than typical for Marfan syndrome in general and for cysteine changes specifically. Surveillance for aortic dilation is required but may occur less frequently.
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CHAND syndrome is an autosomal recessive disorder characterized by curly hair, ankyloblepharon, and nail dysplasia. Only few patients were reported to date. A homozygous RIPK4 mutation was recently identified by homozygosity mapping and whole exome sequencing in three patients from an expanded consanguineous kindred with a clinical diagnosis of CHAND syndrome. RIPK4 was previously known to be implicated in Bartsocas-Papas syndrome, the autosomal recessive form of popliteal pterygium syndrome. We report here two cases of RIPK4 homozygous mutations in a fetus with severe Bartsocas-Papas syndrome and a patient with CHAND syndrome. The patient with CHAND syndrome harbored the same mutation as the one identified in the family previously reported. We thus confirm the implication of RIPK4 gene in CHAND syndrome in addition to Bartsocas-Papas syndrome and discuss genotype/phenotype correlations.
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