Σάββατο 10 Φεβρουαρίου 2018

Reply to “10-10 Electrode System for EEG Recording”

We thank Prof. Nuwer for providing additional information on the 10-10-system (Nuwer, 2018) which helps to put the development of the current EEG-nomenclature and related discussions in the correct historical context to which Prof Nuwer contributed significantly. We, as the international clinical neurophysiological community, continue to try to improve not only the nomenclature, but our clinical tools and their implementation to improve the patient care – which would have not been possible without the commitment of colleagues active in the field like Prof Nuwer.

from Physiology via xlomafota13 on Inoreader http://ift.tt/2nR6e8j
via IFTTT

Ectopic impulse generation in peripheral nerve hyperexcitability syndromes and amyotrophic lateral sclerosis

S13882457.gif

Publication date: Available online 10 February 2018
Source:Clinical Neurophysiology
Author(s): Yu-ichi Noto, Neil G. Simon, Alexis Selby, Nidhi Garg, Kazumoto Shibuya, Nortina Shahrizaila, William Huynh, José M. Matamala, Thanuja Dharmadasa, Susanna B. Park, Steve Vucic, Matthew C. Kiernan
ObjectiveTo elucidate differences in the distribution and firing frequency of fasciculations between peripheral nerve hyperexcitability syndromes and amyotrophic lateral sclerosis (ALS) and to explore the generator site of fasciculations.MethodsUltrasound of 14 preselected muscles was performed in patients with peripheral hyperexcitability and ALS. The distribution and firing frequency of fasciculations were calculated. Cortical excitability assessment was also done by threshold tracking transcranial magnetic stimulation.ResultsIn total, 518 muscles from 37 peripheral hyperexcitability patients and 756 muscles from 54 ALS patients were examined. Regarding the detection rate, 74% of muscles in ALS patients demonstrated fasciculations, compared with 34% of muscles in peripheral hyperexcitability patients (P <0.001). The number of unique repeating focal muscle fasciculation movements per muscle and firing frequency of individual fasciculations in ALS were both significantly higher than those in peripheral hyperexcitability (P <0.001). Furthermore, cortical silent period duration negatively correlated with the number and firing frequency of fasciculations in ALS (P <0.05). A similar relationship was not evident in peripheral hyperexcitability.ConclusionsALS patients exhibited a widespread distribution of fasciculations, whereas peripheral hyperexcitability patients had a lower limb-dominant pattern.SignificanceA significant proportion of fasciculations in ALS may be influenced by changes in central excitability.



from Physiology via xlomafota13 on Inoreader http://ift.tt/2Ccf2tr
via IFTTT

Reply to “10-10 Electrode System for EEG Recording”

alertIcon.gif

Publication date: Available online 10 February 2018
Source:Clinical Neurophysiology
Author(s): Margitta Seeck, Thomas Bast, Frans Leijten, Bin He, Sándor Beniczky




from Physiology via xlomafota13 on Inoreader http://ift.tt/2EgBesp
via IFTTT

Vastus lateralis motor unit firing rate is higher in females with patellofemoral pain

alertIcon.gif

Publication date: Available online 10 February 2018
Source:Archives of Physical Medicine and Rehabilitation
Author(s): Alessio Gallina, Michael A. Hunt, Paul Hodges, S. Jayne Garland
ObjectiveTo compare neural drive, determined from motor unit firing rate, to the vastus medialis and lateralis in females with and without patellofemoral pain.DesignCross-sectional study.SettingUniversity research laboratory.ParticipantsFemales (N=56) 19-35 years old, 36 with patellofemoral pain and 20 controls. Interventions: Not applicable.Main Outcome Measure(s)Participants sustained an isometric knee extension contraction at 10% of their maximal voluntary effort for 70s. Motor units (N=414) were identified using high-density surface electromyography. Average firing rate was calculated between 5 and 35s after recruitment for each motor unit. Initial firing rate was the inverse of the first three motor unit inter-spike intervals.ResultsIn control participants, vastus medialis motor units discharged at higher rates than vastus lateralis (p=0.001). This was not observed in females with patellofemoral pain (p=0.78) due to a higher discharge rate of vastus lateralis compared to control participants (p=0.002). No between-group differences were observed for vastus medialis (p=0.93). Similar results were obtained for the initial motor unit firing rate.ConclusionsThese findings suggest that females with patellofemoral pain have a higher neural drive to vastus lateralis but not vastus medialis, which may be a contributor of the altered patellar kinematics observed in some studies. The different neural drive may be an adaptation to patellofemoral pain, possibly to compensate for decreased quadriceps force production, or a precursor of patellofemoral pain.



from Rehabilitation via xlomafota13 on Inoreader http://ift.tt/2Ex4SZP
via IFTTT

The clinical assessment of spasticity in people with spinal cord damage: recommendations from the Ability Network, an international initiative

Publication date: Available online 10 February 2018
Source:Archives of Physical Medicine and Rehabilitation
Author(s): Anand V. Nene, Alexandre Rainha Campos, Klemen Grabljevec, Arminda Lopes, Bengt Skoog, Anthony S. Burns
A thorough assessment of the extent and severity of spasticity, and its impact on functioning, is central to the effective management of spasticity in persons with spinal cord damage (SCD). These individuals, however, do not always receive adequate assessment of their spasticity. Inadequate assessment compromises management when the impact of spasticity and/or need for intervention are not fully recognized. Assessment is also central to determining treatment efficacy. A barrier to spasticity assessment has been the lack of consensus on clinical and functional measures suitable for routine clinical practice. To extend upon existing work, a working group of the Ability Network identified and consolidated information on possible measures, then synthesized and formulated findings into practical recommendations for assessing spasticity and its impact on function in persons with SCD. Sixteen clinical and functional measures that have been used for this purpose were identified using a targeted literature review. These were mapped to the relevant domains of the International Classification of Functioning, Disability and Health (ICF) to assess the breadth of their coverage; coverage of many domains was found to be lacking, suggesting a focus for future work. The advantages, disadvantages and usefulness of the measures were assessed using a range of criteria, with a focus on usefulness and feasibility in routine clinical practice. Based on this evaluation, a selection of measures suitable for initial and follow-up assessments are recommended. The recommendations are intended to have broad applicability to a variety of healthcare settings where people with SCD are managed.



from Rehabilitation via xlomafota13 on Inoreader http://ift.tt/2H1c12R
via IFTTT

A Qualitative Exploration of Co-location as an Intervention to Strengthen Home Visiting Implementation in Addressing Maternal Child Health

Abstract

Objectives The aim of this paper is to explore the process and impact of co-locating evidence-based maternal and child service models to inform future implementation efforts. Methods As part of a state-wide evaluation of maternal and child home visiting programs, we conducted semi-structured interviews with administrators and home visitors from home visiting agencies across Pennsylvania. We collected 33 interviews from 4 co-located agencies. We used the Consolidated Framework for Implementation Research (CFIR) to describe the key elements mitigating implementation of multiple home visiting models. Results A primary advantage of co-location described by participants was the ability to increase the agency's base of eligible clients through the implementation of a model with different program eligibility (e.g. income, child age) than the existing agency offering. Model differences related to curriculum (e.g. content or intensity/meeting frequency) enabled programs to more selectively match clients to models. To recruit eligible clients, new models were able to build upon the existing service networks of the initial program. Co-location provided organizational opportunities for shared trainings, enabling administrative efficiencies and collaborative staff learning. Programs implemented strategies to build synergies with complementary model features, for instance using the additional program option to serve waitlisted clients and to transition services after one model is completed. Conclusions for Practice Considerable benefits are experienced when home visiting models co-locate. This research builds on literature encouraging collaboration among community agencies and provides insight on a specific facilitative approach. This implementation strategy informs policy across the social services spectrum and competitive funding contexts.



from Health via xlomafota13 on Inoreader http://ift.tt/2nNzXyY
via IFTTT

Injury, repair, inflammation and metaplasia in the stomach

Abstract

The development of intestinal-type gastric cancer is preceded by the emergence of metaplastic cell lineages in the gastric mucosa. In particular, intestinal metaplasia and spasmolytic polypeptide-expressing metaplasia (SPEM) have been associated with the pathological progression to intestinal-type gastric cancer. The development of SPEM represents a physiological response to damage that recruits reparative cells to sites of mucosal injury. Metaplastic cell lineages are characterized by mucus secretion, adding a protective barrier to the epithelium. Increasing evidence indicates that the influence of alarmins and cytokines is required to initiate the process of metaplasia development. In particular, IL-33 derived from epithelial cells stimulates IL-13 production by specialized innate immune cells to induce chief cell transdifferentiation into SPEM following the loss of parietal cells from the corpus of the stomach. While SPEM represents a physiological healing response to acute injury, persistent injury and chronic inflammation can perpetuate a recurring pattern of reprogramming and metaplasia that is a risk factor for gastric cancer development. The transdifferentiation of zymogen secreting cells into mucus metaplasia may represent both a general repair mechanism in response to mucosal injury in many epithelia as well as a common pre-neoplastic pathway associated with chronic injury and inflammation.

This article is protected by copyright. All rights reserved



from Physiology via xlomafota13 on Inoreader http://ift.tt/2ETqNbk
via IFTTT

UBC-Nepal expedition: The use of oral antioxidants does not alter cerebrovascular function at sea-level or high-altitude

Abstract

Hypoxia is associated with an increased systemic and cerebral formation of free radicals and associated reactants that may be linked to impaired cerebral vascular function a neurological sequela. To what extent oral antioxidants prophylaxis impacts cerebrovascular function in humans throughout the course of acclimatization to the hypoxia of terrestrial high-altitude has not been examined. Thus, the purpose of the current study was to examine the influence of orally ingested antioxidants at clinically relevant doses (vitamin C, E, and alpha-lipoic acid) on cerebrovascular regulation at sea-level (344 m; n = 12; female n = 2 participants), and at high altitude (5050 m; n = 9; female n = 2), in a randomized, placebo-controlled, and double-blinded crossover design. Hypercapnic and hypoxic cerebrovascular reactivity tests of the internal carotid (ICA)] were conducted at sea-level, while global and regional cerebral blood flow [i.e. ICA and vertebral artery (VA)] were assessed after 10–12 days following arrival at 5050 m. At sea-level, acute administration of antioxidants did not alter cerebral hypoxic cerebrovascular reactivity (pre vs. post: 1.5 ± 0.7 vs. 1.2 ± 0.8 %∆CBF/-%∆SpO2; P = 0.96), or cerebral hypercapnic cerebrovascular reactivity (pre vs. post: 5.7 ± 2.0 vs. 5.8 ± 1.9 %∆CBF/∆mmHg; P = 0.33). Furthermore, global cerebral blood flow (P = 0.43), as well as cerebral vascular conductance (ICA P = 0.08; VA P = 0.32), were unaltered at 5050 m following antioxidant administration. In conclusion, these data show that an oral antioxidant cocktail known to attenuate systemic oxidative stress failed to alter cerebrovascular function at sea-level and cerebral blood flow during acclimatization to high-altitude.

This article is protected by copyright. All rights reserved



from Physiology via xlomafota13 on Inoreader http://ift.tt/2CaNdlp
via IFTTT

Going with the flow: contextual fine-tuning of vascular reactivity

Abstract

Autoregulation is the ability of a system to adjust its response to a particular stimulus. It is well established that autoregulation of blood flow is specifically important to maintain proper tissue perfusion despite changes in arterial perfusion pressure.

This article is protected by copyright. All rights reserved



from Physiology via xlomafota13 on Inoreader http://ift.tt/2EesO0M
via IFTTT

One Year Follow-up of Outcomes from the Randomized Clinical Trial of the Building on Family Strengths Program

Abstract

Objectives Test the 12-month efficacy of an inclusive non-diagnosis-specific, parent education program with seven in-person sessions. Methods Parents of 110 children, 2–11 years old, with a variety of special health care conditions, were recruited to participate in a randomized clinical trial. At twelve months data from 104 parents were available for longitudinal analysis. Linear mixed models, with the interaction term of group by time, were used to assess the efficacy of the intervention over 12 months using data from 3 time points: baseline, 6 and 12 months. The outcome measures were self-efficacy, parent and child shared management of chronic condition, coping skills, parental depressive symptoms and quality of life. Results All of the outcomes improved within the intervention group over 12 months. Self-efficacy was the strongest outcome which remained significantly different from the control group 12 months post intervention, without any statistical adjustment (p = 0.045). The coefficient of the interaction term for study group (intervention or control) by time, quantifying the intervention effect, was statistically significant for four of five pre-specified study outcomes, favorably so toward the intervention group (p < 0.05, with the 5th outcome, parental depression, p = 0.052). Conclusions for Practice The Building on Family Strengths intervention was efficacious in improving self-efficacy, shared management, coping skills, and quality of life and decreasing depressive symptoms in parents, in particular for parents who were most impacted by the lack of these strengths and skills at baseline. These results are encouraging and future studies to investigate the efficacy of this intervention in an Internet-based setting or other modalities are encouraged.



from Health via xlomafota13 on Inoreader http://ift.tt/2EgC9oy
via IFTTT

Intrafamiliar clinical variability of Circumferential Skin Creases Kunze Type caused by a novel heterozygous mutation of N-terminal TUBB gene

Abstract

Circumferential skin creases Kunze type (CSC-KT; OMIM 156610, 616734) is a rare disorder characterized by folding of excess skin, which leads to ringed creases, known as Michelin Tyre Baby Syndrome (MTBS). CSC-KT patients also exhibit facial dysmorphism, growth retardation, intellectual disability (ID) and multiple congenital malformation. Recently, two heterozygous mutations in TUBB gene and four mutations (both homozygous and heterozygous) in MAPRE2 gene were identified in 3 and 4 CSC-KT patients, respectively. In the three TUBB gene-related CSC-KT patients, all mutations fall in the N-terminal gene domain and were de novo. Mutations in the C-terminal of TUBB gene have been associated to microcephaly and structural brain malformation, in the absence of CSC-KT features. We report a 9-year-old boy with a diagnosis of CSC-KT based on MTBS, facial dysmorphism, microcephaly, severe ID, cortical atrophy and corpus callosum hypoplasia. Sanger sequencing identified a novel heterozygous c.218T>C (p.Met73Thr) mutation in the N-terminal of TUBB gene, that was inherited from the mother affected by isolated MTBS. This is the first report of inherited TUBB gene-related CSC-KT resulting from a novel heterozygous mutation in the N-terminal domain. Present data support the role of TUBB mutations in CSC-KT and definitely includes CSC-KT syndrome within the tubulinopathies.

Thumbnail image of graphical abstract

from Genetics via xlomafota13 on Inoreader http://ift.tt/2FZOUUY
via IFTTT

Characteristics of genetic diseases in consanguineous populations in the genomic era: lessons from Arab communities in North Israel

Abstract

The health outcome of consanguineous/endogamous unions is an increased risk of autosomal recessive disorders in their progeny. This manuscript is focused on consanguineous/endogamous populations living in North Israel. Molecular tools show that spouses' relatedness and hence their risks for congenital diseases among offspring are often greater than the risk calculated on the basis of reported pedigrees. Revealing founder mutations allows for effective genetic counseling, but also induces genetic screening of the whole community in case the mutations are found to be frequent. More complex genetic mechanisms, such as co-inheritance of more than one condition, allelic and even locus heterogeneity, have been identified. These mechanisms make genetic counseling more challenging but with the advancement of molecular techniques, diseases can be better deciphered. Yet, the presence of multiple mutations responsible for genetic diseases in isolated populations, and occasionally locus heterogeneity of diseases, is an un-expected phenomenon that still needs mechanistic clarification. It seems likely that addressing genetic counseling challenges and estimations of risks for genetic morbidity in consanguineous/endogamous couples will be achieved by introducing high through-put genetic technologies into daily practice. The genomic era has expanded dramatically the translation of research products to genetic counseling tools, and this tendency is expected to yield a stronger impact in a near future.

Thumbnail image of graphical abstract

from Genetics via xlomafota13 on Inoreader http://ift.tt/2H3RU4d
via IFTTT

Hamstring Injury Prevention Practices in Elite Sport: Evidence for Eccentric Strength vs. Lumbo-Pelvic Training

Abstract

Hamstring strain injuries are endemic in running-based sports. Given the economic and performance implications of these injuries, a significant body of research has emerged in recent years in an attempt to identify risk factors and develop or optimise injury prevention strategies. Surveys of injury prevention practices among medical and conditioning staff in elite sport suggest that many sporting clubs invest significant efforts in eccentric hamstring conditioning and lumbo-pelvic or trunk stability programmes. The purpose of this narrative review was to critically evaluate the evidence underpinning these practices. Single-exercise eccentric training interventions have proven effective in the prevention of primary and recurrent hamstring strains, when compliance is adequate. However, despite its almost universal acceptance, the authors are aware of only one, very recent, prospective risk factor study examining the effect of lumbo-pelvic motion during sprinting on hamstring injury risk. Furthermore, the interventions exploring the effect of lumbo-pelvic training on hamstring injury rates have not measured stability in any way. An improved understanding of the evidence underpinning commonly employed hamstring injury prevention practices may enable clinicians and coaches to better prioritise effective strategies in the increasingly complex environment of elite sport.



from Sports Medicine via xlomafota13 on Inoreader http://ift.tt/2BSqX3W
via IFTTT

‘Measuring’ Physical Literacy and Related Constructs: A Systematic Review of Empirical Findings

Abstract

Background

The concept of physical literacy has received increased research and international attention recently. Where intervention programs and empirical research are gaining momentum, their operationalizations differ significantly.

Objective

The objective of this study was to inform practice in the measure/assessment of physical literacy via a systematic review of research that has assessed physical literacy (up to 14 June, 2017).

Methods

Five databases were searched using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses for Protocols guidelines, with 32 published articles meeting the inclusion criteria. English-language, peer-reviewed published papers containing empirical studies of physical literacy were analyzed using inductive thematic analysis.

Results

Qualitative methods included: (1) interviews; (2) open-ended questionnaires; (3) reflective diaries; (4) focus groups; (5) participant observations; and (6) visual methods. Quantitative methods included: (1) monitoring devices (e.g., accelerometers); (2) observations (e.g., of physical activity or motor proficiency); (3) psychometrics (e.g., enjoyment, self-perceptions); (4) performance measures (e.g., exergaming, objective times/distances); (5) anthropometric measurements; and (6) one compound measure. Of the measures that made an explicit distinction: 22 (61%) examined the physical domain, eight (22%) the affective domain; five (14%) the cognitive domain; and one (3%) combined three domains (physical, affective, and cognitive) of physical literacy. Researchers tended to declare their philosophical standpoint significantly more in qualitative research compared with quantitative research.

Conclusions

Current research adopts diverse often incompatible methodologies in measuring/assessing physical literacy. Our analysis revealed that by adopting simplistic and linear methods, physical literacy cannot be measured/assessed in a traditional/conventional sense. Therefore, we recommend that researchers are more creative in developing integrated philosophically aligned approaches to measuring/assessing physical literacy. Future research should consider the most recent developments in the field of physical literacy for policy formation.



from Sports Medicine via xlomafota13 on Inoreader http://ift.tt/2BlqXbC
via IFTTT

Comment on: “Health Benefits of Light-Intensity Physical Activity: A Systematic Review of Accelerometer Data of the National Health and Nutrition Examination Survey (NHANES)”



from Sports Medicine via xlomafota13 on Inoreader http://ift.tt/2BSqTkI
via IFTTT

Correction to: Sub-anesthetic Xenon Increases Erythropoietin Levels in Humans: A Randomized Controlled Trial

Page 1764, Column 2, `Acknowledgements' section: The first sentence, which previously read:



from Sports Medicine via xlomafota13 on Inoreader http://ift.tt/2BiRrL3
via IFTTT

Muscle Oximetry in Sports Science: A Systematic Review

Abstract

Background

Since the introduction (in 2006) of commercially available portable wireless muscle oximeters, the use of muscle near-infrared spectroscopy (NIRS) technology is gaining in popularity as an application to observe changes in muscle metabolism and muscle oxygenation during and after exercise or training interventions in both laboratory and applied sports settings.

Objectives

The objectives of this systematic review were to highlight the application of muscle oximetry in evaluating oxidative skeletal muscle performance to sport activities and emphasize how this technology has been applied to exercise and training.

Methods

Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines were followed in a systematic fashion to search, assess and synthesize existing literature on this topic. The Scopus and MEDLINE/PubMed electronic databases were searched to 1 March 2017. Potential inclusions were screened against eligibility criteria relating to recreationally trained to elite athletes, with or without training programs, who must have assessed physiological variables monitored by commercial oximeters or NIRS instrumentation.

Results

Of the 14,609 identified records, only 57 studies met the eligibility criteria. This systematic review highlighted a number of key findings in 16 sporting activities. Overall, NIRS information can be used as a marker of skeletal muscle oxidative capacity and for analyzing muscle performance factors.

Conclusions

Although NIRS instrumentation is promising in evaluating oxidative skeletal muscle performance when used in sport settings, there is still the need for further instrumental development and randomized/longitudinal trials to support the detailed advantages of muscle oximetry utilization in sports science.



from Sports Medicine via xlomafota13 on Inoreader http://ift.tt/2BREUiL
via IFTTT

Author’s Reply to Lopez: Comment on “Health Benefits of Light-Intensity Physical Activity: A Systematic Review of Accelerometer Data of the National Health and Nutrition Examination Survey (NHANES)”



from Sports Medicine via xlomafota13 on Inoreader http://ift.tt/2BjeF3I
via IFTTT

Sedentary Behavior and Body Weight and Composition in Adults: A Systematic Review and Meta-analysis of Prospective Studies

Abstract

Background

The cumulative effect of too much sedentary behavior may contribute to weight gain and obesity.

Objective

The aim of this study was to conduct a systematic review and meta-analysis of prospective cohorts and randomized controlled studies to determine the association between sedentary behavior and body weight and obesity in adults.

Data Sources and Study Selection

Relevant studies were identified from searches of the MEDLINE, Embase, AMED and PubMed databases up to May 2017, and by manual searches of in-text citations. Studies that evaluated the association in adults between sedentary behavior and body weight or obesity, while controlling for physical activity, were included. Overall, 31 publications met the eligibility criteria, including 23 prospective cohort studies with data that could be extracted for a quantitative meta-analysis, and a single randomized controlled trial.

Results

There were no significant associations between sedentary behavior and any measure of body weight or obesity, with the exception of waist circumference. For the latter outcome, over a 5-year follow-up period, each 1 h per day increase—from baseline to follow-up—in sedentary behavior was associated with a 0.02 mm [95% confidence interval (CI) 0.01–0.04; p = 0.001) increase in waist circumference. The odds ratio of becoming overweight or obese was 1.33 (95% CI 1.11–1.60; p = 0.001) in the highest compared with lowest categories of sedentary behavior.

Conclusions

Meta-analysis of data from prospective cohort studies showed small, inconsistent and non-significant associations between sedentary behavior and body weight.



from Sports Medicine via xlomafota13 on Inoreader http://ift.tt/2BPrq7a
via IFTTT

Adrenergic control mechanisms of heart rate - down to a T?

Abstract

Each heart beat originates from complex molecular processes which result in the generation of a spontaneous action potential that triggers an electrical cascade to the rest of the heart, converted into co-ordinated mechanical action to allow effective function as a pump.

This article is protected by copyright. All rights reserved



from Physiology via xlomafota13 on Inoreader http://ift.tt/2H48ukD
via IFTTT

Having Older Siblings Is Associated with Lower Rates of Depression, ADD/ADHD, Anxiety and Behavior Problems Among Children with ASD

Abstract

Objective Within the social determinants of mental health framework, this article investigated whether children with ASD who have older siblings are less likely to experience depression, anxiety, behavior problems or have ADD/ADHD after controlling for standard social determinants of mental health such as household income, parental education and adverse childhood experiences (ACEs). Methods Using the National Survey of Children's Health 2011–2012, children with ASD spectrum disorders (n = 1624) were categorized into three groups: only child, oldest child and has older siblings. Design corrected cross-tabulations, univariate and multivariate logistic regressions were estimated. Results The three groups of children with ASD were comparable in demographic characteristics (except age), ACEs, and parent-reported ASD severity. Children with ASD who had older siblings were significantly less likely to experience depression, anxiety or behavior problems. They were also less likely to have been diagnosed with ADD or ADHD. Adjusted odds ratios ranged from 0.12 to 0.53 indicating robust associations. Conclusions for Practice Children with ASD who have older siblings were less likely to have comorbid mental health disorders than other children with ASD. Conversely, oldest and only children with ASD were at increased risk for these disorders. Further research is needed to understand how this protection is conferred on children with ASD, and whether it can be adapted into interventions for only and oldest children with ASD.



from Health via xlomafota13 on Inoreader http://ift.tt/2Caujv9
via IFTTT

Shank3 mutations and HCN channelopathy: one size does not fit all

Abstract

Autism, from the Greek autos ("self") and ismos ("action") was initially described as a congenital lack of interest in other people.

This article is protected by copyright. All rights reserved



from Physiology via xlomafota13 on Inoreader http://ift.tt/2BPUviF
via IFTTT

Non-syndromic bilateral ulnar aplasia with humero-radial synostosis and oligo-ectro-dactyly

Congenital anomalies of the upper limbs are rare and etiologically heterogeneous. Herein, we report a male infant with non-syndromic bilateral Type Vb ulnar longitudinal dysplasia with radiohumeral synostosis (apparent humeral bifurcation), and bilateral oligo-ectro-syndactyly who was born following an uncomplicated pregnancy, with no maternal use of prescription or illicit medication. Array CGH (60,000 probes) and chromosomal breakage analysis (DEB) were normal. Similar appearances have been reported in children exposed to thalidomide or cocaine, but sporadic patients have also been reported without a prior history of exposure to known teratogens.



from Genetics via xlomafota13 on Inoreader http://ift.tt/2C9G592
via IFTTT