Πέμπτη 3 Μαρτίου 2016

REVIEW OF MESENCHYMAL HAMARTOMA OF CHEST WALL IN INFANCY- AN UNUSUAL TUMOUR

2016-03-03T22-53-24Z
Source: International Journal of Current Research and Review
Ravi G. Patel, Sanjay V. Dhotre, Hansa M. Goswami, Hitendra P. Barot, Manan P. Jadav.
Mesenchymal hamartoma of the chest wall (MHCW) occurs as intraosseous expansile mass involving the ribs typically present at birth or in early infancy[1]. The incidence is about 0.03% among primary bone tumors with male predominance, and appropriately 100 cases have been reported. We present a case of 3-month-old female baby with slowly growing left sided chest wall swelling since birth. Computerized tomography (CT) revealed a Approx. 58x55x64mm3 sized expansile heterogeneous soft tissue density lesion (calcific, fluid and soft tissue) arising from posterior aspect of left fourth and fifth ribs with large intrathoracic component resulting in compression of left parenchyma. The lesion causes mass effect in form of widening of 4th and 5th intercostal spaces and shift of mediastinum towards left side. Rest of both lung fields appear normal. Thoracotomy with en bloc excision of the tumor was performed and tissue was sent for histopathological examination. Microscopy revealed structure of well circumscribed lesion chiefly consisting of fascicles of spindled shaped fibroblast admixed with cartilaginous and bony tissue with evidence of endochondral ossification. A final diagnosis of mesenchymal hamartoma of the chest wall was made. Oncologist deferred the chemotherapy The 80% of cases occur prenatally or within first 6 months of life and are usually solitary, but bilaterality or multicentricity also rarely occur[3,4]. Mesenchymal hamartoma is not a true neoplasm, but rather they are hamartomas with focal overgrowth of normal skeletal elements with no propensity for invasion or metastasis. Malignant transformation in MHCW is very rare[6]. The definitive diagnosis is established only by histopathological examination[5]. We hereby conclude that these tumors are very rare and they look aggressive both radiologically and microscopically, so it is essential to be aware of this condition, so that unnecessary over diagnosis and aggressive treatment with chemotherapy and radiotherapy can be avoided considering the fast recovery of the patient when managed with surgery alone.


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SPECTRUM OF LESIONS IN URINARY BLADDER -A HISTOPATHOLOGICAL STUDY

2016-03-03T22-53-24Z
Source: International Journal of Current Research and Review
Pooja Y. Shah, Monika Nanavati, Ravi G. Patel, Hansa M. Goswami.
Background: Diseases of the bladder, particularly inflammation (cystitis), constitute an important source of clinical signs and symptoms. Tumors of the bladder are an important source of both morbidity and mortality. Objectives: 1) To study the histopathological features of various lesions in bladder. 2) To study the frequency of different pathological lesions, particularly Papillary Urothelial Neoplasms in urinary bladder. Results: 35 cases of urinary bladder were received. Out of 35 patients, 27 were males and 8 were females with male to female ratio being 3.38:1.The spectrum of pathological lesions included inflammations, metaplastic lesions, cystic lesions and tumors. Out of 35 cases 12(34.28%) were Non neoplastic lesions and 23(65.71%) were Neoplastic lesions. Among the non neoplastic lesions cystitis (41.67%) was the most common finding. Others were non-specific inflammation due to various etiology, hydatid cyst, benign epithelial inclusion cyst and abscess. Most common age groups affected by the neoplastic lesions were 41-50 years and 61-70 years with male to female ratio being 2.29:1. Among the neoplastic lesions 19(82.60%) cases were of urothelial neoplasms, others being Squamous Cell Carcinoma, Poorly Differentiated Carcinoma with Neuroendocrine differentiation and Paraganglioma. Most common Urothelial neoplasm was Non invasive Papillary Urothelial Carcinoma, Low Grade (9 cases). Among all the bladder biopsies received there was no muscle layer in 3 cases (8.3%). Conclusions: Our study has revealed that the bladder tumors are the commonest lesions in the urinary bladder tissues received and Papillary Urothelial Neoplasms were the predominant tumor type.


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HISTOMORPHOLOGICAL SPECTRUM OF SKIN ADNEXAL TUMORS AT A TERTIARY CARE HOSPITAL - A RETROSPECTIVE STUDY

2016-03-03T22-53-24Z
Source: International Journal of Current Research and Review
Nirali Amin, Smita Shah, Shreedhan Prajapati, Hansa Goswami.
Background: Skin adnexal tumors (SAT) are a large and diverse group of benign and malignant tumors which exhibit morphological differentiation towards one of the different types of adnexal epithelium present in normal skin: pilosebaeceous unit, eccrine and apocrine. The aim of this study was to recognize various histomorphology of skin adnexal tumors, their frequency, age and site distribution. Methods: It was a retrospective study of 50 cases of skin adnexal turmors, diagnosed on histopathological examination over a period of 3 years (January 2012 to December 2014) in the Department of Pathology, B.J. Medical college, Ahmedabad. Histopathological examination was done on Formalin fixed, Paraffin embedded tissue sections stained with Haematoxylin and Eosin. Special histochemical stains like PAS stain and Reticulin stain were also used, wherever required. Results: Skin adnexal tumors were most common in the age group of 31 to 40 years (38%, 19/50). Male to female ratio was 1:1.27. The head and neck region was the most common site affected (60%) with 32% cases located on the face. 98% cases were benign and only a single case (2%) was malignant. The sweat gland tumors formed the largest group involving 70% of cases followed by hair follicle tumors followed by sebaceous gland tumors. Nodular hidradenoma was the most common benign tumor. Sebaceous carcinoma was the only malignant adnexal tumor reported in our study. Conclusion: Skin adnexal tumors are relatively rare. Benign adnexal tumors are far more common than their malignant counterparts. There is slight Female preponderance. Face is the commonest site for occurrence of SATs. Nodular hidradenoma is the most frequently encountered tumor among all SATs. Histopathological examination is mandatory in their diagnosis as they have very wide spectrum and frequency of differentiation along different lines in the same lesion.


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Massive Serum Creatine Kinase Elevation Due To Olanzapine Treatment In An Adolescent With Bipolar Disorder

2016-03-03T18-49-13Z
Source: Çocuk ve Gençlik Ruh Sağlığı Dergisi / Turkish Journal of Child and Adolescent Mental Health
Tanıdır C, Eseroğlu T, Bozbey S, Adaletli H, Üneri ÖŞ.
There are case reports that indicate creatine kinase (CK) elevation due to atypical antipsychotic treatment in literature. In this article we aimed to disscuss the clinical course, differential diagnosis and the mechanism of CK elevation in an adolescent with bipolar disorder whose serum CK levels increased to 32440 U/L (normal range: 30-200 U/L) after short-term olanzapine treatment. The mechanism of CK elevation due to antipsychotic use is not clear; however currently, when compared to cases like this presented one, it seems adequate to stop the antipsychotic medication and monitor serum CK levels periodically if other possible medical causes are excluded.


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Adolescence, Separation and Discharge: Separation Groups - A Case Report

2016-03-03T18-49-13Z
Source: Çocuk ve Gençlik Ruh Sağlığı Dergisi / Turkish Journal of Child and Adolescent Mental Health
İşcanlı Ekin L, Varol Taş F, Güvenir T.
Introduction: Separation is one of the key concepts during adolescence and it contains various emotions such as loss, grief, despair, enthusiasm and fear. For the adolescents in an inpatient mental health treatment setting, the discharge period means separation from the unit and it needs to be worked through. Method: This paper introduces a separation group therapy application in Dokuz Eylul University Child and Adolescent Mental Health Inpatient Unit. The data is followed by a case vignette. Discussion: Discharge period is challenging because it contains both leaving the positive experiences behind and returning back to the external world of problems. Therefore it is crucial to provide these patients with opportunities to work through separation and to support them with a group therapy application designed specifically to serve this aim.


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Characteristics Of Children And Their Parents Referred To A Child Psychiatry Clinic Of A State Hospital For School Readiness Assessment

2016-03-03T18-49-13Z
Source: Çocuk ve Gençlik Ruh Sağlığı Dergisi / Turkish Journal of Child and Adolescent Mental Health
Yulaf Y, Gümüştaş F, Ayaz M.
Objective: The aim of this study was to assess developmental and mental states of children who were referred to a child and adolescent psychiatry outpatient clinic for school readiness assessment as a result of change in the starting age of compulsory schooling and to examine socio-demographic characteristics of the parents. Method: Medical files of 200 cases that were referred to Tekirdag State Hospital's child psychiatry clinic for this purpose between dates July 2012 and October 2012 were reviewed retrospectively. Results: Mean age of children included was 65.82±5,5 months. Fifty-three and half percent (n=107) of mothers had middle school or lower education level. Ninety-one percent of families (n=181) had an average monthly income under 3000 TL. Eighty-seven and half percent of children (n=175) were found to have not attended kindergarten. Thirteen percent of cases (n=26) were diagnosed with an axis 1 psychiatric disorder or cognitive delay. Fifteen percent of children (n = 30) had a chronic medical illness and 61.5% (n=123) failed to fulfill self-care skills alone. Discussion: There are many factors affecting the children's school readiness. Preschool education programs and learning opportunities at home should be increased and widened to whole community to provide school readiness adequately.


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The Relatıonship Between Perceived Social Support, Depression And Suicide Probability In Adolescents

2016-03-03T18-49-13Z
Source: Çocuk ve Gençlik Ruh Sağlığı Dergisi / Turkish Journal of Child and Adolescent Mental Health
Şireli Ö, Çolak M, Orak Y, Sakınç N.
Objective: The aim of this study is to determine the relationship between perceived social support, depression levels and suicide probability in adolescents. Methods: This study was carried out through the 2013-2014 academic year in Mardin among 927 high school students attending 2nd, 3rd and 4th grades. Students were evaluated by using Socio-demographic Data Form, Childrens Depression Inventory (CDI), Social Support Appraisals Scale (SS-A) and Suicide Probability Scale (SPS). Results: Mean age of the students was 15.89±0.77 (SD=0.77 year); 489 (52.8%) were boys and 438 (47.2%) were girls. It was found that there was a significant negative relationship between all SS-A subscales and total scores, SPS scores and CDI scores (p


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Adaptation Study of the EMBU-C to Turkish

2016-03-03T18-49-13Z
Source: Çocuk ve Gençlik Ruh Sağlığı Dergisi / Turkish Journal of Child and Adolescent Mental Health
Cüre S, Gökler Danışman I.
Objective: Previous studies emphasized the role of parents on children and adolescents socialization process. The aim of the current study is to standardize and investigate the psychometric properties of the Turkish version of the child form of Egna Minnen Betraffande Upfostran (EMBU-C; My Memories of Upbringing Scale), which was developed by Perris and colleagues and adapted to be used with children and adolescents by Markus and colleagues. Method: Five hundred and five children and adolescents participated in the study, those ages are between 11 and 18. The factor structure, test reliability, internal consistency value, test re-test reliability, split-half reliability, and item total correlation were gathered by various statistical analyses. Results: The statistical analyses showed that EMBU-C is a reliable and valid scale that can be used to measure children and adolescents perception of parental behaviors. Discussion: This study shows that EMBU-C is a convenient tool to measure children and adolescents perceived parental behaviors. Since this scale can be applied to a wide age range like 11 and 18 and since this is a self-report test, this scale would be easily used by researchers. This scale may enlighten many areas about child and adolescent development and symptmatology.


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Önyazı

2016-03-03T18-49-13Z
Source: Çocuk ve Gençlik Ruh Sağlığı Dergisi / Turkish Journal of Child and Adolescent Mental Health
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Graph theory network function in Parkinson’s disease assessed with electroencephalography

Lewy-type synucleinopathy (LTS) is established to be prominent in the cerebral cortex at mid and later stages of Parkinson's disease (PD). Alzheimer's disease (AD) pathology and vascular lesions are also present in a portion of cases. Functional imaging and quantitative electroencephalography (QEEG) studies have revealed physiologic dysfunction of widespread cortical areas. However, the manner in which cortical or subcortical pathology disrupts interaction within and between cortical areas has received little study and remains to be established.

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Sleep apnea reduces the amount of computational deep sleep in the right frontopolar area in school-aged children

It has been estimated that obstructive sleep apnea (OSA) affects 1-3% of children (Ali et al., 1993; Bixler et al., 2009; Gislason and Benediktsdóttir, 1995). Children's OSA is known to cause different symptoms that include deficits in cognitive performance (Friedman et al., 2003; Halbower et al., 2006), inattention leading to poor school performance (Gozal, 1998) and behavioral problems such as hyperactivity (Guilleminault et al., 1981; Melendres et al., 2004; O'Brien et al., 2003). Despite the remarkable daytime symptoms among pediatric OSA patients, they may preserve the normal sleep stage distribution with no sleep fragmentation (Goh et al., 2000; Yang et al., 2010).

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Progressive Change in Sleep over Multiple Nights of Intracranial EEG Monitoring

Intracranial EEG (icEEG) is used in patients with medically intractable epilepsy undergoing monitoring to localize the seizure onset area. Multiple studies have shown that there is an interaction between seizure occurrence, time of day, state of sleep or wakefulness, and likely circadian rhythms (Pavlova et al., 2004; Durazzo et al., 2008; Loddenkemper et al., 2011). However, the mechanism of these interactions and the structures that regulate them are not well-understood. Further, the prevalence and features of interictal epileptiform discharges and high-frequency oscillations (HFOs) in the icEEG may directly depend on patient sleep and wake state.

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Spectrum of acute poisoning: A retrospective observational study in a tertiary care hospital in North India

2016-03-03T11-18-02Z
Source: National Journal of Physiology, Pharmacy and Pharmacology
Sharminder Kaur, Sapna Gupta, Shamiya Sadiq, Vijay Khajuria.
Background: Acute poisoning is an important medical emergency and its pattern and outcome varies from place to place. Aims and Objective: This study was conducted to evaluate the spectrum of acute poisoning in a tertiary care hospital. Materials and Methods: This is a retrospective study of acute poisoning cases brought to emergency department of a tertiary care hospital from 1st January to 30th June 2015. Result: Total 256 cases of acute poisoning were recorded over a period of 6 months. Acute poisoning was common in men, and age group of 1825 years was the most affected. The most common offending agent was agricultural pesticides (28.5%) and in this group mortality was maximum with aluminum phosphide (43.4%). The case fatality with unknown agents was reported to be (12.8%). Conclusion: From the results of this study, we conclude that acute poisoning is a common problem and male population is the most affected. Organophosphorous is a common poisoning and aluminum phosphide accounted for majority of fatal outcome. The outcome of this study underscores the importance of proper storage, distribution, sale and disposal of the pesticides, and advanced laboratory support.


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Bioelectric impedance phase angle in carcinoma prostate - a hospital-based study

2016-03-03T11-37-40Z
Source: International Journal of Medical Science and Public Health
Ruchi Tyagi, Shashank Mishra, Naveen Gaur, Archana Panwar, Dhanesh Saini, Kiran Singh, Deepak Kumar, Ghulam Jeelani.
Background: Prostate cancer is the leading cause of cancer death in men worldwide. A common problem faced by both clinicians and patients is that prostate malignancy does not cause symptoms until it metastasizes or become locally advanced. Prostate specific antigen (PSA) one of the important screening tools is controversial as its low predictive value results in high number of unnecessary prostate biopsies. Objective: To explore bioelectric impedance analysis (BIA) derived phase angle as a screening and prognostic tool in histologically proven prostate cancer. Material and Methods: This prospective case control study included the measuring of phase angles, PSA, and Gleason scoring in patients of prostate cancer and comparing it with their matched controls using unpaired t-test. All the patients of carcinoma prostate were grouped into various stages and one-way ANOVA was applied followed by post hoc Tukey Krammer test. Result: Controls showed a mean ± SEM value of 4.790 (0.0424) and cases had a mean ±SEM 3.0048 (0.069). The p-value was


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Study habits and academic performance of first year MBBS students

2016-03-03T11-37-40Z
Source: International Journal of Medical Science and Public Health
Sreelekha V, Yogananda Reddy Indla, Rameswari Reddy R, Rameswarudu M, Swathi A, Yamini D, Aleem Uddin.
Background: The goal of education is advancement in personnel, professional, social, and spiritual life. Objective: To observe the study habits, academic performance, and the relation between these two, among the first-year MBBS students in a medical college from southern part of India. Materials and Methods: For this study, self-assessment questionnaire developed and standardized by Palsane and Sarma was adopted. Palsane and Sarma Study Habits and Inventory (PSSHI), is a self-assessment questionnaire which is consisting of six domains and each domain is having a set of 5 statements and a total of 30 statements. Academic performance of the students was assessed with the marks they have obtained in the part completion test on hematology. Targeted population is first-year MBBS students, who were participated voluntarily in this study. Results: The mean PSSHI scores in students with good study habits and poor habits were 227.70±7.81 and 158.01±7.53 (p = 0.0001), and the mean academic performance scores were 16.15±2.11 and 8.88±1.96 (p = 0.0001), respectively. Correlation coefficient (r) between study habits and academic performance was 0.87 and 0.98 in group I and II, respectively. Conclusion: Students with fair study habits scored significantly more when compared with those having poor study habits, in the portion completion test.


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A study on demographical and clinical profile and the outcome of snake bite victims in a tristate tertiary care center

2016-03-03T11-37-40Z
Source: International Journal of Medical Science and Public Health
Rajesh Krishnappa, Chandrika D G, Ramesh M Gowda, Prakash Babu, Roopesh Banala.
Background: Snake bite continues to cause significant morbidity and mortality especially in this part of the world where agriculture is the main occupation of majority of population increasing the chances of contact between the snake and human. Objective: To know demographical and clinical profile of snake bite patients presenting to a tertiary care center in Kuppam. Materials and Methods: This was a cross-sectional observational study in which 60 cases of snake bite admitted from January 2014 to December 2014 consecutively. The data regarding demographical profile, clinical profile of snake bite victims were recorded and analyzed. Result: Total number of 60 victims of consecutive snake bites were studied who sort admission/management to PES Hospital between January 2014 and December 2014. Male prevalence was twice that of female. A majority of victims were in the age group of 20-50 years and rural (86.7%) population. The most bites occurred during the dawn and early time (55%) and mainly on lower limbs (65%). Most of the bites occurred in the monsoon season. Agriculturists (61.7%) were most vulnerable population. Among the identified bite victims, viper bites were more followed by krait. Complications as a result of snake bite were in the range of 28.3%. Complications due to anti-snake venom were less than 10% and serious reactions were less 1%. Conclusion: In the tristate region, snake bite is a major rural occupational health hazard among the farmers. Population awareness programs regarding prevention, first-aid, and the importance of the early transfers to be emphasized.


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Clear Cell Carcinoma of Kidney Seen As Large Calcified Mass: A Rare Incidental Postmortem Finding

2016-03-03T11-36-19Z
Source: European Journal of Forensic Sciences
Rajnish Kalra, Renuka Verma, Ritika Vashisht, Sumiti Gupta, Shilpa Garg.
Clear cell renal cell carcinoma is the most common malignancy of kidney and presentation of the disease is variable ranging from completely asymptomatic to diagnostic triad (hematuria, abdominal mass and flank pain). However, renal cell carcinoma presenting as a large calcified mass is an extremely rare presentation and to the best of our knowledge, no such case has been reported in the literature so far. Thus, we present a case of clear cell carcinoma of kidney seen as a large calcified mass in 45 year old male on post-mortem examination.


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Inter-cultivar variation in soil-to-plant transfer of radiocaesium and radiostrontium in Brassica oleracea

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Publication date: May 2016
Source:Journal of Environmental Radioactivity, Volumes 155–156
Author(s): B. Penrose, K.A. Johnson née Payne, A. Arkhipov, A. Maksimenko, S. Gaschak, M.C. Meacham, N.J.M. Crout, P.J. White, N.A. Beresford, M.R. Broadley
Radiocaesium and radiostrontium enter the human food chain primarily via soil-plant transfer. However, uptake of these radionuclides can differ significantly within species (between cultivars). The aim of this study was to assess inter-cultivar variation in soil-to-plant transfer of radiocaesium and radiostrontium in a leafy crop species, Brassica oleracea. This study comprised four independent experiments: two pot experiments in a controlled environment artificially contaminated with radiocaesium, and two field experiments in an area contaminated with radiocaesium and radiostrontium in the Chernobyl Exclusion Zone. Radiocaesium concentration ratios varied 35-fold among 27 cultivars grown in pots in a controlled environment. These 27 cultivars were then grown with a further 44 and 43 other cultivars in the Chernobyl Exclusion Zone in 2003 and 2004, respectively. In the field-grown cultivars radiocaesium concentration ratios varied by up to 35-fold and radiostrontium concentration ratios varied by up to 23-fold.In three of these experiments (one pot experiment, two field experiments) one out of the 27 cultivars was found to have a consistently lower radiocaesium concentration ratio than the other cultivars. The two field experiments showed that, five out of the 66 cultivars common to both experiments had consistently lower radiocaesium concentration ratios, and two cultivars had consistently lower radiostrontium concentration ratios. One cultivar had consistently lower radiocaesium and radiostrontium concentration ratios.The identification of cultivars that have consistently lower radiocaesium and/or radiostrontium concentration ratios suggests that cultivar selection or substitution may be an effective remediation strategy in radiologically contaminated areas. Future research should focus on plant species that are known to be the largest contributors to human dose.



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Hair cortisol concentrations in relation to ill-being and well-being in healthy young and old females

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Publication date: Available online 3 March 2016
Source:International Journal of Psychophysiology
Author(s): Nina Smyth, Matilde Bianchin, Lisa Thorn, Frank Hucklebridge, Clemens Kirschbaum, Tobias Stalder, Angela Clow
Hair cortisol concentration (HCC) provides a retrospective measure of long-term (i.e. over a period of months) cortisol secretion and has been shown to be elevated in relation to chronic stress conditions. However associations in healthy participants with subjective ill-being are less clear and associations with well-being have not been explored. The current study examined HCC in relation to independent comprehensive measures of ill-being (stress, depression, anxiety) and well-being (subjective happiness, life satisfaction, psychological well-being) in healthy young and old females (mean±SD: 19.5±2.2years and 78.6±6.7years respectively, total N=115). The data supported evidence of increased total cortisol secretion with increased age. No association between ill-being and HCC was found in either the young or older group of participants. A positive association between HCC and well-being was found in the older participant group which was independent of ill-being and potential confounds. These findings do not support associations between HCC and ill-being in healthy young or old females. However the results suggest that HCC is able to distinguish levels of well-being in healthy older females.



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Temporal relationships between awakening cortisol and psychosocial variables in inpatients with anorexia nervosa – A time series approach

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Publication date: Available online 3 March 2016
Source:International Journal of Psychophysiology
Author(s): Beate Wild, Tatjana Stadnitski, Daniela Wesche, Esther Stroe-Kunold, Jobst-Hendrik Schultz, Gottfried Rudofsky, Christiane Maser-Gluth, Wolfgang Herzog, Hans-Christoph Friederich
ObjectiveThe aim of the study was to investigate the characteristics of the awakening salivary cortisol in patients with anorexia nervosa (AN) using a time series design. We included ten AN inpatients, six with a very low BMI (high symptom severity, HSS group) and four patients with less severe symptoms (low symptom severity, LSS group).MethodsPatients collected salivary cortisol daily upon awakening. The number of collected saliva samples varied across patients between n=65 and n=229 (due to the different lengths of their inpatient stay). In addition, before retiring, the patients answered questions daily on the handheld regarding disorder-related psychosocial variables. The analysis of cortisol and diary data was conducted by using a time series approach.ResultsTime series showed that the awakening cortisol of the AN patients was elevated as compared to a control group. Cortisol measurements of patients with LSS essentially fluctuated in a stationary manner around a constant mean. The series of patients with HSS were generally less stable; four HSS patients showed a non-stationary cortisol awakening series. Antipsychotic medication did not change awakening cortisol in a specific way. The lagged dependencies between cortisol and depressive feelings became significant for four patients. Here, higher cortisol values were temporally associated with higher values of depressive feelings.ConclusionsUpon awakening, the cortisol of all AN patients was in the standard range but elevated as compared to healthy controls. Patients with HSS appeared to show less stable awakening cortisol time series compared to patients with LSS.



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Sleep apnea reduces the amount of computational deep sleep in the right frontopolar area in school-aged children

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Publication date: Available online 3 March 2016
Source:Clinical Neurophysiology
Author(s): Marjukka Jussila, Outi Saarenpää-Heikkilä, Eero Huupponen, Anna-Maria Lapinlampi, Juha Penttala, Sari-Leena Himanen
ObjectiveObstructive sleep apnea (OSA) causes different symptoms in children, even though polysomnographic parameters that assess sleep quality may remain normal. Our spectral analysis of NREM sleep revealed local deep sleep reductions in adult OSA patients. We hypothesize that our method would also reveal local changes in pediatric OSA patients.MethodsPolysomnographies were part of a larger study evaluating snoring in school-aged children. All right-handed children with OSA with matched peers (n = 10 +10) were included. The median sleep depth (in Hz) and the amount of deep sleep < 4Hz (DS%) were extracted for the whole NREM sleep time and for the first four NREM sleep episodes from frontopolar, central and occipital EEG-channels.ResultsThe main findings were that NREM sleep was lighter and DS% decreased in the right frontopolar area (p-values 0.034 and 0.019) in the OSA group when compared with the control group.ConclusionLocal sleep quality changes might provide new insights to evaluate the effects of pediatric OSA as our method revealed a local computational deep sleep decrease in the right frontopolar area in the OSA group.SignificanceThe presented findings might implicate delayed local cortical development in children's OSA, which may account for the cognitive problems found in pediatric OSA.



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Progressive Change in Sleep over Multiple Nights of Intracranial EEG Monitoring

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Publication date: Available online 3 March 2016
Source:Clinical Neurophysiology
Author(s): Rasesh B. Joshi, Nicolas Gaspard, Irina I. Goncharova, Milena Pavlova, Robert B. Duckrow, Jason L. Gerrard, Dennis D. Spencer, Lawrence J. Hirsch, Hitten P. Zaveri
ObjectiveWe evaluated changes to sleep structure during continuous intracranial EEG (icEEG) monitoring of epilepsy patients undergoing localization of the seizure onset area.MethodsWe studied 28 adult epilepsy patients who underwent icEEG monitoring for a median of 12 nights. We used a metric calculated from relative delta power (RDP) to evaluate the emergence of sleep cycles for every night of monitoring. We further evaluated the effect of seizures and AEDs on trends in the RDP metric.ResultsWe observed oscillations corresponding to sleep cycles in the RDP time-series. There was a significant increasing trend in our RDP sleep metric over the course of monitoring. Seizures and AEDs did not significantly affect this trend.ConclusionsThe RDP metric increased during icEEG monitoring, independent of seizures and AEDs. This increase may be due to a number of factors and these factors appear to outweigh the effects of seizures and AEDs.SignificanceOur results indicate that sleep is not uniform during icEEG monitoring, rather there is a considerable increasing, multi-night change in sleep structure.



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A dental perspective on the taxonomic affinity of the Balanica mandible (BH-1)

Publication date: April 2016
Source:Journal of Human Evolution, Volume 93
Author(s): Matthew M. Skinner, Dorien de Vries, Philipp Gunz, Kornelius Kupczik, R. Paul Klassen, Jean-Jacques Hublin, Mirjana Roksandic
The Middle Pleistocene represents a period of critical importance in human evolution, marked by encephalisation and dental reduction, and increasing diversification of temporally and spatially distributed hominin lineages in Africa, Asia and Europe. New specimens, especially from areas less well represented in the fossil record, can inform the debate on morphological changes to the skeleton and teeth and the phylogenetic course of human evolution during this period. The mandible from the cave of Mala Balanica, Serbia has recently been re-dated to at least 400 ka, and its well-preserved dentition presents an excellent opportunity to characterize molar crown morphology at this time period, and re-examine claims for a lack of Neandertal affinities in the specimen. In this study we employ microtomography to image the internal structure of the mandibular molars (focusing on the morphology of the enamel-dentine junction, or EDJ) of the BH-1 specimen and a comparative sample (n = 141) of Homo erectus sensu lato, Homo neanderthalensis, Pleistocene Homo sapiens, and recent H. sapiens. We quantitatively assess EDJ morphology using 3D geometric morphometrics and examine the expression of discrete dental traits at the dentine surface. We also compare third molar enamel thickness in BH-1 to those of H. neanderthalensis and both Pleistocene and recent H. sapiens, and document previously unreported morphology of the BH-1 premolar and molar roots. Our results highlight the reliability of the EDJ surface for classifying hominin taxa, indicate a primitive dental morphology for BH-1 molars, and confirm a general lack of derived Neandertal features for the Balanica individual. The plesiomorphic character of BH-1 is consistent with several competing models of Middle Pleistocene hominin evolution and provides an important regional and temporal example for reconstructing morphological changes in the mandible and teeth during this time period.



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RNA-binding protein HuD reduces triglyceride production in pancreatic β cells by enhancing the expression of insulin-induced gene 1

Publication date: Available online 3 March 2016
Source:Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms
Author(s): Chongtae Kim, Heejin Lee, Hoin Kang, Jung Jae Shin, Hyosun Tak, Wook Kim, Myriam Gorospe, Eun Kyung Lee
Although triglyceride (TG) accumulation in the pancreas leads to β-cell dysfunction and raises the chance to develop metabolic disorders such as type 2 diabetes (T2DM), the molecular mechanisms whereby intracellular TG levels are regulated in pancreatic β cells have not been fully elucidated. Here, we present evidence that the RNA-binding protein HuD regulates TG production in pancreatic β cells. Mouse insulinoma βTC6 cells stably expressing a small hairpin RNA targeting HuD (shHuD) (βTC6-shHuD) contained higher TG levels compared to control cells. Moreover, downregulation of HuD resulted in a decrease in insulin-induced gene 1 (INSIG1) levels but not in the levels of sterol regulatory element-binding protein 1c (SREBP1c), a key transcription factor for lipid production. We identified Insig1 mRNA as a direct target of HuD by using ribonucleoprotein immunoprecipitation (RIP) and biotin pulldown analyses. By associating with the 3′-untranslated region (3'UTR) of Insig1 mRNA, HuD promoted INSIG1 translation; accordingly, HuD downregulation reduced while ectopic HuD expression increased INSIG1 levels. We further observed that HuD downregulation facilitated the nuclear localization of SREBP1c, thereby increasing the transcriptional activity of SREBP1c and the expression of target genes involved in lipogenesis; likewise, we observed lower INSIG1 levels in the pancreatic islets of HuD-null mice. Taken together, our results indicate that HuD functions as a novel repressor of lipid synthesis in pancreatic β cells.



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Corrigendum



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Corrigendum



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Corrigendum



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Corrigendum



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Genome-Wide Investigation of MicroRNAs and Their Targets in Response to Freezing Stress in Medicago sativa L., Based on High-Throughput Sequencing

Winter damage, especially in northern climates, is a major limitation of the utilization of perennial forages such as alfalfa. Therefore, improving freezing tolerance is imperative in alfalfa genetic breeding. However, freezing tolerance is a complex trait that is determined by many genes. To understand the complex regulation mechanisms of freezing tolerance in alfalfa, we performed small RNA sequencing analysis under cold (4°) and freezing (–8°) stress. The sequencing results revealed that 173 known, and 24 novel miRNAs were expressed, and that the expression of 35 miRNAs was affected by cold and/or freezing stress. Meanwhile, 105 target genes cleaved by these miRNAs were characterized by degradome sequencing. These targets were associated with biological regulation, cellular processes, metabolic processes, and response to stress. Interestingly, most of them were characterized as transcription factors (TFs), including auxin response factors, SBP, NAC, AP2/ERF, and GRF, which play important roles in plant abiotic responses. In addition, important miRNAs and mRNAs involved in nodulation were also identified, for example, the relationship between miR169 and the TF CCAAT (also named as NF-YA/HAP2), which suggested that nodulation has an important function in freezing tolerance in alfalfa. Our results provide valuable information to help determine the molecular mechanisms of freezing tolerance in alfalfa, which will aid the application of these miRNAs and their targets in the improvement of freezing tolerance in alfalfa and related plants.



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Isolation of a Hypomorphic skn-1 Allele That Does Not Require a Balancer for Maintenance

In Caenorhabditis elegans, the transcription factor SKN-1 has emerged as a central coordinator of stress responses and longevity, increasing the need for genetic tools to study its regulation and function. However, current loss-of-function alleles cause fully penetrant maternal effect embryonic lethality, and must be maintained with genetic balancers that require careful monitoring and labor intensive strategies to obtain large populations. In this study, we identified a strong, but viable skn-1 hypomorphic allele skn-1(zj15) from a genetic screen for suppressors of wdr-23, a direct regulator of the transcription factor. skn-1(zj15) is a point mutation in an intron that causes mis-splicing of a fraction of mRNA, and strongly reduces wildtype mRNA levels of the two long skn-1a/c variants. The skn-1(zj15) allele reduces detoxification gene expression and stress resistance to levels comparable to skn-1 RNAi, but, unlike RNAi, it is not restricted from some tissues. We also show that skn-1(zj15) is epistatic to canonical upstream regulators, demonstrating its utility for genetic analysis of skn-1 function and regulation in cases where large numbers of worms are needed, a balancer is problematic, diet is varied, or RNAi cannot be used.



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Novel Heterotypic Rox Sites for Combinatorial Dre Recombination Strategies

Site-specific recombinases (SSRs) such as Cre are widely used in gene targeting and genetic approaches for cell labeling and manipulation. They mediate DNA strand exchange between two DNA molecules at dedicated recognition sites. Precise understanding of the Cre recombination mechanism, including the role of individual base pairs in its loxP target site, guided the generation of mutant lox sites that specifically recombine with themselves but not with the wild type loxP. This has led to the development of a variety of combinatorial Cre-dependent genetic strategies, such as multicolor reporters, irreversible inversions, or recombination-mediated cassette exchange. Dre, a Cre-related phage integrase that recognizes roxP sites, does not cross-react with the Cre-loxP system, but has similar recombination efficiency. We have previously described intersectional genetic strategies combining Dre and Cre. We now report a mutagenesis screen aimed at identifying roxP base pairs critical for self-recognition. We describe several rox variant sites that are incompatible with roxP, but are able to efficiently recombine with themselves in either purified systems or bacterial and eukaryotic tissue culture systems. These newly identified rox sites are not recognized by Cre, thus enabling potential combinatorial strategies involving Cre, Dre, and target loci including multiple loxP and roxP variants.



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The E2F-DP1 Transcription Factor Complex Regulates Centriole Duplication in Caenorhabditis elegans

Centrioles play critical roles in the organization of microtubule-based structures, from the mitotic spindle to cilia and flagella. In order to properly execute their various functions, centrioles are subjected to stringent copy number control. Central to this control mechanism is a precise duplication event that takes place during S phase of the cell cycle and involves the assembly of a single daughter centriole in association with each mother centriole . Recent studies have revealed that posttranslational control of the master regulator Plk4/ZYG-1 kinase and its downstream effector SAS-6 is key to ensuring production of a single daughter centriole. In contrast, relatively little is known about how centriole duplication is regulated at a transcriptional level. Here we show that the transcription factor complex EFL-1-DPL-1 both positively and negatively controls centriole duplication in the Caenorhabditis elegans embryo. Specifically, we find that down regulation of EFL-1-DPL-1 can restore centriole duplication in a zyg-1 hypomorphic mutant and that suppression of the zyg-1 mutant phenotype is accompanied by an increase in SAS-6 protein levels. Further, we find evidence that EFL-1-DPL-1 promotes the transcription of zyg-1 and other centriole duplication genes. Our results provide evidence that in a single tissue type, EFL-1-DPL-1 sets the balance between positive and negative regulators of centriole assembly and thus may be part of a homeostatic mechanism that governs centriole assembly.



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Participation in School Sports and Marijuana Use among Male and Female Students

2016-03-03T05-56-52Z
Source: Journal of Behavioral Health
Keith A. King, Ashley L. Merianos, Rebecca A. Vidourek, Oladunni A. Oluwoye.
Background: Marijuana is the most commonly used illicit substance among adolescents. There is a paucity in the literature on the relationship between school sports participation and marijuana use. Therefore, the purpose of this study was to assess the relationship between school sports participation and recent marijuana use, past year marijuana use, perceived harm, perceived peer disapproval, and ease of marijuana access among males and females. We defined past year marijuana use as having smoked marijuana in the past year of survey completion and recent marijuana use as having used marijuana in the past 30 days of survey completion. Methods: We performed a secondary analysis of 2013-2014 PRIDE Survey data including 37,616 7th-12th grade students. Chi-square analyses and odds ratios were performed. Results: Fifteen percent of students indicated that they used marijuana within the past 30 days of survey completion. Nearly one-fourth (23.4%) of students reported recently using marijuana in the past year of completing the survey. Males were more likely to report recent marijuana use and past year marijuana use compared to their female counterparts. Results revealed males and females who reported participating in school sports often/a lot were less likely to report recent or past year marijuana use than those who never/seldom participated in school sports. Perceived harm, peer disapproval, and ease of access also differed based on school sports participation for males and females. Conclusions: Sports participation had a protective effect against marijuana use. Increasing peer disapproval and perceived harm while reducing perceived ease of access may be beneficial in reducing marijuana use. Initiatives to reduce substance use among 7th-12th graders should focus on increasing pro-social activities such as school sports participation.


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Diverse Hormone Response Networks in 41 Independent Drosophila Cell Lines

Steroid hormones induce cascades of gene activation and repression with transformative effects on cell fate . Steroid transduction plays a major role in the development and physiology of nearly all metazoan species, and in the progression of the most common forms of cancer. Despite the paramount importance of steroids in developmental and translational biology, a complete map of transcriptional response has not been developed for any hormone . In the case of 20-hydroxyecdysone (ecdysone) in Drosophila melanogaster, these trajectories range from apoptosis to immortalization. We mapped the ecdysone transduction network in a cohort of 41 cell lines, the largest such atlas yet assembled. We found that the early transcriptional response mirrors the distinctiveness of physiological origins: genes respond in restricted patterns, conditional on the expression levels of dozens of transcription factors. Only a small cohort of genes is constitutively modulated independent of initial cell state. Ecdysone-responsive genes tend to organize into directional same-stranded units, with consecutive genes induced from the same strand. Here, we identify half of the ecdysone receptor heterodimer as the primary rate-limiting step in the response, and find that initial receptor isoform levels modulate the activated cohort of target transcription factors. This atlas of steroid response reveals organizing principles of gene regulation by a model type II nuclear receptor and lays the foundation for comprehensive and predictive understanding of the ecdysone transduction network in the fruit fly.



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Combinatorial Cis-regulation in Saccharomyces Species

Transcriptional control of gene expression requires interactions between the cis-regulatory elements (CREs) controlling gene promoters. We developed a sensitive computational method to identify CRE combinations with conserved spacing that does not require genome alignments. When applied to seven sensu stricto and sensu lato Saccharomyces species, 80% of the predicted interactions displayed some evidence of combinatorial transcriptional behavior in several existing datasets including: (1) chromatin immunoprecipitation data for colocalization of transcription factors, (2) gene expression data for coexpression of predicted regulatory targets, and (3) gene ontology databases for common pathway membership of predicted regulatory targets. We tested several predicted CRE interactions with chromatin immunoprecipitation experiments in a wild-type strain and strains in which a predicted cofactor was deleted. Our experiments confirmed that transcription factor (TF) occupancy at the promoters of the CRE combination target genes depends on the predicted cofactor while occupancy of other promoters is independent of the predicted cofactor. Our method has the additional advantage of identifying regulatory differences between species. By analyzing the S. cerevisiae and S. bayanus genomes, we identified differences in combinatorial cis-regulation between the species and showed that the predicted changes in gene regulation explain several of the species-specific differences seen in gene expression datasets. In some instances, the same CRE combinations appear to regulate genes involved in distinct biological processes in the two different species. The results of this research demonstrate that (1) combinatorial cis-regulation can be inferred by multi-genome analysis and (2) combinatorial cis-regulation can explain differences in gene expression between species.



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Safety and efficacy of an early home-based walking program after receipt of an initial implantable cardioverter defibrillator (ICD)

Publication date: Available online 3 March 2016
Source:Archives of Physical Medicine and Rehabilitation
Author(s): Emily T. Lau, Elaine A. Thompson, Robert L. Burr, Cynthia M. Dougherty
ObjectiveTo investigate the safety and efficacy of an early, home-based walking program for first time implantable defibrillator (ICD) recipients.DesignBefore-after, intervention trial. Data from baseline and 3 months post-ICD implant.SettingInstitutional and private practice.ParticipantsInclusion criteria were cardiac patients (N=301) with an initial ICD for primary or secondary prevention, English proficient, telephone access. Exclusion criteria included Short BLESSED > 6, age < 21 years, AUDIT-C > 4, or ASSIST 2.0 > 4.InterventionEarly home-based walking protocol implemented 1 month post-ICD implant. Exercise tolerance monitored by study nurses via telephone.Main Outcome MeasuresSafety assessment was based on frequency of ICD therapies and hospitalizations, efficacy was based on pedometer measures and self-report of ICD self-efficacy and physical activity.ResultsICD recipients were on average 64.1+11.9 years old, predominantly male and Caucasian, with EF% < 35% and average Charlson score of 2.3+1.5. Nineteen individuals (6.3%) received 28 ICD shocks; 15 (53.6%) were appropriate and 13 (46.4%) inappropriate. ATP therapies were delivered 72 times in 18 (6%) individuals, with 61 (84.7%) appropriate and 11 (15.3%) inappropriate. Five ICD shocks (2 appropriate/3 inappropriate) and 2 ATP therapies occurred during walking. Seven participants (2%) were hospitalized for an ICD shock, none of which was associated with walking. Average steps/day increased by 806 over 3 months. Perceived exercise self-efficacy improved significantly as did weekly exercise. Predictors of receiving any ICD shock were younger age (p<0.0001), moderate to severe renal disease (p=0.001), and lymphoma (p=0.024).ConclusionsEarly ambulation following an initial ICD was safe and effective, with few ICD shocks and improved efficacy.



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Differential Expression of Genes Involved in Host Recognition, Attachment, and Degradation in the Mycoparasite Tolypocladium ophioglossoides

The ability of a fungus to infect novel hosts is dependent on changes in gene content, expression, or regulation. Examining gene expression under simulated host conditions can explore which genes may contribute to host jumping. Insect pathogenesis is the inferred ancestral character state for species of Tolypocladium, however several species are parasites of truffles, including Tolypocladium ophioglossoides. To identify potentially crucial genes in this interkingdom host switch, T. ophioglossoides was grown on four media conditions: media containing the inner and outer portions of its natural host (truffles of Elaphomyces), cuticles from an ancestral host (beetle), and a rich medium (Yeast Malt). Through high-throughput RNASeq of mRNA from these conditions, many differentially expressed genes were identified in the experiment. These included PTH11-related G-protein-coupled receptors (GPCRs) hypothesized to be involved in host recognition, and also found to be upregulated in insect pathogens. A divergent chitinase with a signal peptide was also found to be highly upregulated on media containing truffle tissue, suggesting an exogenous degradative activity in the presence of the truffle host. The adhesin gene, Mad1, was highly expressed on truffle media as well. A BiNGO analysis of overrepresented GO terms from genes expressed during each growth condition found that genes involved in redox reactions and transmembrane transport were the most overrepresented during T. ophioglossoides growth on truffle media, suggesting their importance in growth on fungal tissue as compared to other hosts and environments. Genes involved in secondary metabolism were most highly expressed during growth on insect tissue, suggesting that their products may not be necessary during parasitism of Elaphomyces. This study provides clues into understanding genetic mechanisms underlying the transition from insect to truffle parasitism.



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A Novel Recombinant DNA System for High Efficiency Affinity Purification of Proteins in Saccharomyces cerevisiae

Isolation of endogenous proteins from Saccharomyces cerevisiae has been facilitated by inserting encoding polypeptide affinity tags at the C-termini of chromosomal open reading frames (ORFs) using homologous recombination of DNA fragments. Tagged protein isolation is limited by a number of factors, including high cost of affinity resins for bulk isolation and low concentration of ligands on the resin surface, leading to low isolation efficiencies and trapping of contaminants. To address this, we have created a recombinant "CelTag" DNA construct from which PCR fragments can be created to easily tag C-termini of S. cerevisiae ORFs using selection for a nat1 marker. The tag has a C-terminal cellulose binding module to be used in the first affinity step. Microgranular cellulose is very inexpensive and has an effectively continuous ligand on its surface, allowing rapid, highly efficient purification with minimal background. Cellulose-bound proteins are released by specific cleavage of an included site for TEV protease, giving nearly pure product. The tag can be lifted from the recombinant DNA construct either with or without a 13x myc epitope tag between the target ORF and the TEV protease site. Binding of CelTag protein fusions to cellulose is stable to high salt, nonionic detergents, and 1 M urea, allowing stringent washing conditions to remove loosely associated components, as needed, before specific elution. It is anticipated that this reagent could allow isolation of protein complexes from large quantities of yeast extract, including soluble, membrane-bound, or nucleic acid-associated assemblies.



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Genetic Architecture of Conspicuous Red Ornaments in Female Threespine Stickleback

Explaining the presence of conspicuous female ornaments that take the form of male-typical traits has been a longstanding challenge in evolutionary biology. Such female ornaments have been proposed to evolve via both adaptive and nonadaptive evolutionary processes. Determining the genetic underpinnings of female ornaments is important for elucidating the mechanisms by which such female traits arise and persist in natural populations, but detailed information about their genetic basis is still scarce. In this study, we investigated the genetic architecture of two ornaments, the orange-red throat and pelvic spine, in the threespine stickleback (Gasterosteus aculeatus). Throat coloration is male-specific in ancestral marine populations but has evolved in females in some derived stream populations, whereas sexual dimorphism in pelvic spine coloration is variable among populations. We find that ornaments share a common genetic architecture between the sexes. At least three independent genomic regions contribute to red throat coloration, and harbor candidate genes related to pigment production and pigment cell differentiation. One of these regions is also associated with spine coloration, indicating that both ornaments might be mediated partly via pleiotropic genetic mechanisms.



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Primary biliary cirrhosis associated with Graves’ disease in a male patient

Abstract

Primary biliary cirrhosis (PBC), which predominantly affects women, has been associated with various autoimmune diseases. Although hypothyroidism accompanying PBC is well documented, the concomitance of PBC and hyperthyroidism is rare. Herein, we report the case of a 62-year-old man who was diagnosed with PBC several years after the development of Graves' disease. This is the first case of a male patient developing PBC with Graves' disease. Both serum alanine aminotransferase levels and serum thyroid hormone levels were normalized after the administration of thiamazole for Graves' disease. However, the cholestatic liver enzyme abnormalities continued, indicating that the PBC was actualized by the administration of thiamazole. After starting ursodeoxycholic acid treatment, cholestatic liver enzyme abnormalities improved. Taken together, when a cholestatic pattern of liver enzymes is observed during follow-up for Graves' disease, an association between Graves' disease and PBC should be considered as a differential diagnosis.



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Vesicular Trafficking Systems Impact TORC1-Controlled Transcriptional Programs in Saccharomyces cerevisiae

The Target of Rapamycin Complex I (TORC1) orchestrates global reprogramming of transcriptional programs in response to myriad environmental conditions, yet, despite the commonality of the TORC1 complex components, different TORC1-inhibitory conditions do not elicit a uniform transcriptional response. In Saccharomyces cerevisiae, TORC1 regulates the expression of nitrogen catabolite repressed (NCR) genes by controlling the nuclear translocation of the NCR transactivator Gln3. Moreover, Golgi-to-endosome trafficking was shown to be required for nuclear translocation of Gln3 upon a shift from rich medium to the poor nitrogen source proline, but not upon rapamycin treatment. Here, we employed microarray profiling to survey the full impact of the vesicular trafficking system on yeast TORC1-orchestrated transcriptional programs. In addition to the NCR genes, we found that ribosomal protein, ribosome biogenesis, phosphate-responsive, and sulfur-containing amino acid metabolism genes are perturbed by disruption of Golgi-to-endosome trafficking following a nutritional shift from rich to poor nitrogen source medium, but not upon rapamycin treatment. Similar to Gln3, defects in Golgi-to-endosome trafficking significantly delayed cytoplasmic–nuclear translocation of Sfp1, but did not detectably affect the cytoplasmic–nuclear or nuclear–cytoplasmic translocation of Met4, which are the transactivators of these genes. Thus, Golgi-to-endosome trafficking defects perturb TORC1 transcriptional programs via multiple mechanisms. Our findings further delineate the downstream transcriptional responses of TORC1 inhibition by rapamycin compared with a nitrogen quality downshift. Given the conservation of both TORC1 and endomembrane networks throughout eukaryotes, our findings may also have implications for TORC1-mediated responses to nutritional cues in mammals and other eukaryotes.



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Can Nutritional Assessment Tools Predict Response to Nutritional Therapy?

Abstract

Traditional tools and scoring systems for nutritional assessment have focused solely on parameters of poor nutritional status in the past, in an effort to define the elusive concept of malnutrition. Such tools fail to account for the contribution of disease severity to overall nutritional risk. High nutritional risk, caused by either deterioration of nutritional status or greater disease severity (or a combination of both factors), puts the patient in a metabolic stress state characterized by adverse outcome and increased complications. Newer scoring systems for determining nutritional risk, such as the Nutric Score and the Nutritional Risk Score-2002 have created a paradigm shift connecting assessment and treatment with quality outcome measures of success. Clinicians now have the opportunity to identify high risk patients through their initial assessment, provide adequate or sufficient nutrition therapy, and expect improved patient outcomes as a result. These concepts are supported by observational and prospective interventional trials. Greater clinical experience and refinement in these scoring systems are needed in the future to optimize patient response to nutrition therapy.



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FW: An R Package for Finlay-Wilkinson Regression that Incorporates Genomic/Pedigree Information and Covariance Structures Between Environments

The Finlay–Wilkinson regression (FW) is a popular method among plant breeders to describe genotype by environment interaction. The standard implementation is a two-step procedure that uses environment (sample) means as covariates in a within-line ordinary least squares (OLS) regression. This procedure can be suboptimal for at least four reasons: (1) in the first step environmental means are typically estimated without considering genetic-by-environment interactions, (2) in the second step uncertainty about the environmental means is ignored, (3) estimation is performed regarding lines and environment as fixed effects, and (4) the procedure does not incorporate genetic (either pedigree-derived or marker-derived) relationships. Su et al. proposed to address these problems using a Bayesian method that allows simultaneous estimation of environmental and genotype parameters, and allows incorporation of pedigree information. In this article we: (1) extend the model presented by Su et al. to allow integration of genomic information [e.g., single nucleotide polymorphism (SNP)] and covariance between environments, (2) present an R package (FW) that implements these methods, and (3) illustrate the use of the package using examples based on real data. The FW R package implements both the two-step OLS method and a full Bayesian approach for Finlay–Wilkinson regression with a very simple interface. Using a real wheat data set we demonstrate that the prediction accuracy of the Bayesian approach is consistently higher than the one achieved by the two-step OLS method.



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A Computational Approach to Estimating Nondisjunction Frequency in Saccharomyces cerevisiae

Errors segregating homologous chromosomes during meiosis result in aneuploid gametes and are the largest contributing factor to birth defects and spontaneous abortions in humans. Saccharomyces cerevisiae has long served as a model organism for studying the gene network supporting normal chromosome segregation. Measuring homolog nondisjunction frequencies is laborious, and involves dissecting thousands of tetrads to detect missegregation of individually marked chromosomes. Here we describe a computational method (TetFit) to estimate the relative contributions of meiosis I nondisjunction and random-spore death to spore inviability in wild type and mutant strains. These values are based on finding the best-fit distribution of 4, 3, 2, 1, and 0 viable-spore tetrads to an observed distribution. Using TetFit, we found that meiosis I nondisjunction is an intrinsic component of spore inviability in wild-type strains. We show proof-of-principle that the calculated average meiosis I nondisjunction frequency determined by TetFit closely matches empirically determined values in mutant strains. Using these published data sets, TetFit uncovered two classes of mutants: Class A mutants skew toward increased nondisjunction death, and include those with known defects in establishing pairing, recombination, and/or synapsis of homologous chromosomes. Class B mutants skew toward random spore death, and include those with defects in sister-chromatid cohesion and centromere function. Epistasis analysis using TetFit is facilitated by the low numbers of tetrads (as few as 200) required to compare the contributions to spore death in different mutant backgrounds. TetFit analysis does not require any special strain construction, and can be applied to previously observed tetrad distributions.



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Genetic Correlates of Individual Differences in Sleep Behavior of Free-Living Great Tits (Parus major)

Within populations, free-living birds display considerable variation in observable sleep behaviors, reflecting dynamic interactions between individuals and their environment. Genes are expected to contribute to repeatable between-individual differences in sleep behaviors, which may be associated with individual fitness. We identified and genotyped polymorphisms in nine candidate genes for sleep, and measured five repeatable sleep behaviors in free-living great tits (Parus major), partly replicating a previous study in blue tits (Cyanistes caeruleus). Microsatellites in the CLOCK and NPAS2 clock genes exhibited an association with sleep duration relative to night length, and morning latency to exit the nest box, respectively. Furthermore, microsatellites in the NPSR1 and PCSK2 genes associated with relative sleep duration and proportion of time spent awake at night, respectively. Given the detection rate of associations in the same models run with random markers instead of candidate genes, we expected two associations to arise by chance. The detection of four associations between candidate genes and sleep, however, suggests that clock genes, a clock-related gene, or a gene involved in the melanocortin system, could play key roles in maintaining phenotypic variation in sleep behavior in avian populations. Knowledge of the genetic architecture underlying sleep behavior in the wild is important because it will enable ecologists to assess the evolution of sleep in response to selection.



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Major Improvements to the Heliconius melpomene Genome Assembly Used to Confirm 10 Chromosome Fusion Events in 6 Million Years of Butterfly Evolution

The Heliconius butterflies are a widely studied adaptive radiation of 46 species spread across Central and South America, several of which are known to hybridize in the wild. Here, we present a substantially improved assembly of the Heliconius melpomene genome, developed using novel methods that should be applicable to improving other genome assemblies produced using short read sequencing. First, we whole-genome-sequenced a pedigree to produce a linkage map incorporating 99% of the genome. Second, we incorporated haplotype scaffolds extensively to produce a more complete haploid version of the draft genome. Third, we incorporated ~20x coverage of Pacific Biosciences sequencing, and scaffolded the haploid genome using an assembly of this long-read sequence. These improvements result in a genome of 795 scaffolds, 275 Mb in length, with an N50 length of 2.1 Mb, an N50 number of 34, and with 99% of the genome placed, and 84% anchored on chromosomes. We use the new genome assembly to confirm that the Heliconius genome underwent 10 chromosome fusions since the split with its sister genus Eueides, over a period of about 6 million yr.



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The Effects of Both Recent and Long-Term Selection and Genetic Drift Are Readily Evident in North American Barley Breeding Populations

Barley was introduced to North America ~400 yr ago but adaptation to modern production environments is more recent. Comparisons of allele frequencies among growth habits and spike (inflorescence) types in North America indicate that significant genetic differentiation has accumulated in a relatively short evolutionary time span. Allele frequency differentiation is greatest among barley with two-row vs. six-row spikes, followed by spring vs. winter growth habit. Large changes in allele frequency among breeding programs suggest a major contribution of genetic drift and linked selection on genetic variation. Despite this, comparisons of 3613 modern North American cultivated barley breeding lines that differ for spike-type and growth habit permit the discovery of 142 single nucleotide polymorphism (SNP) outliers putatively linked to targets of selection. For example, SNPs within the Cbf4, Ppd-H1, and Vrn-H1 loci, which have previously been associated with agronomically adaptive phenotypes, are identified as outliers. Analysis of extended haplotype sharing identifies genomic regions shared within and among breeding populations, suggestive of a number of genomic regions subject to recent selection. Finally, we are able to identify recent bouts of gene flow between breeding populations that could point to the sharing of agronomically adaptive variation. These results are supported by pedigrees and breeders' understanding of germplasm sharing.



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The superficial elevated and depressed lesion type is an independent factor associated with non-curative endoscopic submucosal dissection for early gastric cancer

Abstract

Background

The expanded criteria for endoscopic submucosal dissection (ESD) for early gastric cancer (EGC) have led to an increase in the number of EGC patients who receive curative treatment involving endoscopic techniques. Identifying the factors that are associated with treatment outcomes would be helpful in the application of ESD for EGC.

Methods

Potential factors associated with incomplete ESD and with non-curative ESD were investigated using a multiple logistic regression model in EGC patients who consecutively underwent ESD according to the expanded criteria.

Results

A total of 363 patients with 398 EGC lesions were enrolled. The rates of complete ESD and curative ESD were 96.2 % (383/398) and 85.7 % (341/398), respectively. No significant factors associated with incomplete ESD were identified. In contrast, a tumor size >20 mm [odds ratio (OR) 3.31; 95 % confidence interval (CI) 1.74–6.29], the superficial elevated and depressed type (0-IIa + IIc or IIc + IIa) (OR 4.37; 95 % CI 1.88–9.88), and the undifferentiated type (OR 5.93; 95 % CI 1.65–19.41) were identified as independent factors associated with non-curative ESD. The superficial elevated and depressed type in particular was found to be highly related to submucosal and lymphovascular invasion. The rate of non-curative ESD in cases of this macroscopic type occurring together with a tumor size >20 mm was 58.3 %, and the adjusted OR was 16.48 (95 % CI 4.69–62.09).

Conclusion

The results suggest that the superficial elevated and depressed type is an independent factor associated with non-curative ESD and that the risk of non-curative ESD is increased when this macroscopic type is present along with a large tumor size.



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Perioperative immunonutrition in normo-nourished patients undergoing laparoscopic colorectal resection

Abstract

Objective

To determine whether the joint implementation of immunonutrition and a laparoscopic approach improves morbidity, mortality, and length of stay (LOS) compared with dietary advice.

Background

Despite progress in recent years in the surgical management of patients with colorectal cancer, postoperative complications are frequent. Nutritional supplements enriched with immunonutrients have recently been introduced into clinical practice. However, the immunonutrition benefits in patients undergoing colorectal laparoscopic surgery are unknown.

Methods

This study was a prospective, randomized trial with two parallel treatment groups receiving an immune-enhancing dietary supplement for 7 days before colorectal resection and 5 days postoperatively or dietary advice.

Results

A total of 128 patients were randomized. At baseline, both groups were comparable with respect to age, sex, surgical risk, comorbidities, and analytical and nutritional parameters. The median postoperative LOS was 5 days and was not significantly different between the groups. Wound infection differed significantly between the groups (11.50 vs. 0.00 %, p = 0.006). No other differences between the groups were identified.

Conclusions

The joint use of laparoscopy and supplementation with immunonutrients reduces surgical wound infection in patients undergoing colorectal surgery.

Trial registration

This study is registered with ClinicalTrial.gov: NCT0239396.



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2016 Scientific Session of the Society of American Gastrointestinal and Endoscopic Surgeons (SAGES), Boston, Massachusetts, USA, 16–19 March 2016



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