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https://www.readbyqxmd.com/read/28328136/22q11-2q13-duplication-including-sox10-causes-sex-reversal-and-peripheral-demyelinating-neuropathy-central-dysmyelinating-leukodystrophy-waardenburg-syndrome-and-hirschsprung-disease
#1
Nadia Falah, Jennifer E Posey, Willa Thorson, Paul Benke, Mustafa Tekin, Brocha Tarshish, James R Lupski, Tamar Harel
Diagnosis of genetic syndromes may be difficult when specific components of a disorder manifest at a later age. We present a follow up of a previous report [Seeherunvong et al., (2004); AJMGA 127: 149-151], of an individual with 22q duplication and sex-reversal syndrome. The subject's phenotype evolved to include peripheral and central demyelination, Waardenburg syndrome type IV, and Hirschsprung disease (PCWH; MIM 609136). DNA microarray analysis defined the duplication at 22q11.2q13, including SOX10. Sequencing of the coding region of SOX10 did not reveal any mutations...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28325367/contribution-of-maml1-in-esophageal-squamous-cell-carcinoma-tumorigenesis
#2
Mahnaz Hashemi Bidokhti, Mohammad Reza Abbaszadegan, Noorieh Sharifi, Soodabeh Abbasi Sani, Mohammad Mahdi Forghanifard
BACKGROUND: Notch signaling pathway is involved in different cellular and developmental processes including cell proliferation, differentiation and apoptosis. Mastermind like1 (MAML1) is a critical key transcription coactivator of this pathway. In this study, we aimed to examine MAML1 protein expression in esophageal squamous cell carcinoma (ESCC) and reveal its association with clinicopathological variables of the patients. METHODS: Tumoral and their margin normal tissues from 56 ESCC patients were recruited for protein expression analysis using immunohistochemistry (IHC)...
April 2017: Annals of Diagnostic Pathology
https://www.readbyqxmd.com/read/28324034/anti-mullerian-hormone-and-ovarian-morphology-in-women-with-isolated-hypogonadotropic-hypogonadism-kallmann-syndrome-effects-of-recombinant-human-fsh
#3
Hélène Bry-Gauillard, Florence Larrat-Ledoux, Jean-Marc Levaillant, Nathalie Massin, Luigi Maione, Isabelle Beau, Nadine Binart, Philippe Chanson, Sylvie Brailly-Tabard, Janet E Hall, Jacques Young
Context: Isolated hypogonadotropic hypogonadism (IHH), characterized by gonadotropin deficiency and absent puberty, is very rare in women. IHH prevents pubertal ovarian stimulation, but anti-Mullerian hormone (AMH) and antral follicle count (AFC), have not been studied. Objectives: 1) Compare, in IHH versus controls, AMH, ovarian volume (OV) and AFC. 2) Compare in IHH, ovarian responses to recombinant human FSH (rhFSH) and rhFSH plus rhLH. Subjects: 68 IHH women, 51 matched healthy women...
January 27, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28323953/activation-of-male-liver-chromatin-accessibility-and-stat5-dependent-gene-transcription-by-plasma-growth-hormone-pulses
#4
Jeannette Connerney, Dana Lau-Corona, Andy Rampersaud, David J Waxman
Sex-differences in pituitary growth hormone (GH) secretion (pulsatile in males vs near continuous/persistent in females) impart sex-dependent expression to hundreds of genes in adult mouse liver. STAT5, a GH-activated transcription factor that is essential for liver sexual dimorphism, is dynamically activated in direct response to each male plasma GH pulse. However, the impact of GH-induced STAT5 pulses on liver chromatin accessibility and downstream transcriptional events is unknown. Here, we investigate the impact of a single pulse of GH given to hypophysectomized mice on local liver chromatin accessibility [DNase hypersensitive site analysis], transcription rates [hnRNA analysis], and gene expression [quantitative PCR and RNA-Seq] determined 30, 90 or 240 min later...
February 17, 2017: Endocrinology
https://www.readbyqxmd.com/read/28322435/genomic-changes-following-the-reversal-of-a-y-chromosome-to-an-autosome-in-drosophila-pseudoobscura
#5
Ching-Ho Chang, Amanda M Larracuente
Robertsonian translocations resulting in fusions between sex chromosomes and autosomes shape karyotype evolution by creating new sex chromosomes from autosomes. These translocations can also reverse sex chromosomes back into autosomes, which is especially intriguing given the dramatic differences between autosomes and sex chromosomes. To study the genomic events following a Y chromosome reversal, we investigated an autosome-Y translocation in Drosophila pseudoobscura. The ancestral Y chromosome fused to a small autosome (the dot chromosome) approximately 10-15 Mya...
March 21, 2017: Evolution; International Journal of Organic Evolution
https://www.readbyqxmd.com/read/28319194/genome-wide-analysis-of-brain-and-gonad-transcripts-reveals-changes-of-key-sex-reversal-related-genes-expression-and-signaling-pathways-in-three-stages-of-monopterus-albus
#6
Wei Chi, Yu Gao, Qing Hu, Wei Guo, Dapeng Li
BACKGROUND: The natural sex reversal severely affects the sex ratio and thus decreases the productivity of the rice field eel (Monopterus albus). How to understand and manipulate this process is one of the major issues for the rice field eel stocking. So far the genomics and transcriptomics data available for this species are still scarce. Here we provide a comprehensive study of transcriptomes of brain and gonad tissue in three sex stages (female, intersex and male) from the rice field eel to investigate changes in transcriptional level during the sex reversal process...
2017: PloS One
https://www.readbyqxmd.com/read/28315977/seasonal-expression-of-arginine-vasotocin-mrna-and-its-correlations-to-gonadal-steroidogenic-enzymes-and-sexually-dimorphic-coloration-during-sex-reversal-in-the-gilthead-seabream-sparus-aurata
#7
José J Reyes-Tomassini, Ten-Tsao Wong, Yonathan Zohar
Arginine vasotocin is a hormone produced in the hypothalamus of teleost fish that has been shown to regulate gonad development and sexual behavior. To study the role of arginine vasotocin in the gonadal cycle of the hermaphrodite gilthead seabream, Sparus aurata, we cloned the seabream arginine vasotocin (avt) complementary DNA (cDNA). We investigated the expression of brain avt throughout the gonad cycle using real-time quantitative PCR and compared its expression levels to the expression levels of two key gonadal steroidogenic enzymes, cyp19a1a and cyp11b2...
March 18, 2017: Fish Physiology and Biochemistry
https://www.readbyqxmd.com/read/28303556/serum-fibroblast-growth-factor-1-is-associated-with-the-decreased-risk-of-obesity-in-human
#8
Jinzhou Zhu, Yuming Wang, Kefu Zhu, Jianguo Gao, Xingyong Wan, Xunlei Pang, Sujuan Fei
As a transducer of PPARγ signaling, recent evidence supports that fibroblast growth factor 1 (FGF1) mediates adipose tissue remodeling and insulin sensitivity. This study is to assess the role of serum FGF1 in obesity. A hospital-based case-control study of 154 subjects was conducted. Serum level of FGF1 was measured by enzyme-linked immunosorbent assay. The serum level of FGF1 in the lean (119.0 [103.1-146.1] pg/ml) was higher than it in the subjects with overweight/obesity (111.9 [80.3-127.4] pg/ml, P=0...
March 16, 2017: Experimental and Clinical Endocrinology & Diabetes
https://www.readbyqxmd.com/read/28302553/stark-regional-and-sex-differences-in-the-prevalence-and-awareness-of-hypertension-an-h3africa-awi-gen-study-across-6-sites-in-sub-saharan-africa
#9
F Xavier Gómez-Olivé, Stuart A Ali, Felix Made, Catherine Kyobutungi, Engelbert Nonterah, Lisa Micklesfield, Marianne Alberts, Romuald Boua, Scott Hazelhurst, Cornelius Debpuur, Felistas Mashinya, Sekgothe Dikotope, Hermann Sorgho, Ian Cook, Stella Muthuri, Cassandra Soo, Freedom Mukomana, Godfred Agongo, Christopher Wandabwa, Sulaimon Afolabi, Abraham Oduro, Halidou Tinto, Ryan G Wagner, Tilahun Haregu, Alisha Wade, Kathleen Kahn, Shane A Norris, Nigel J Crowther, Stephen Tollman, Osman Sankoh, Michèle Ramsay
BACKGROUND: There is a high prevalence of hypertension and related cardiovascular diseases in sub-Saharan Africa, yet few large studies exploring hypertension in Africa are available. The actual burden of disease is poorly understood and awareness and treatment to control it is often suboptimal. OBJECTIVES: The study sought to report the prevalence of measured hypertension and to assess awareness and control of blood pressure among older adults in rural and urban settings in 6 sites located in West, East, and Southern Africa...
March 13, 2017: Global Heart
https://www.readbyqxmd.com/read/28300824/association-between-the-telomerase-rs2736098_tt-genotype-and-a-lower-risk-of-chronic-hepatitis-b-and-cirrhosis-in-chinese-males
#10
Guanghui Cheng, Xiaotian Yuan, Fang Wang, Qing Sun, Qian Xin, Kailin Li, Chao Sun, Zhaomin Lin, Yun Luan, Yiteng Xu, Ping Li, Feng Kong, Dawei Xu
OBJECTIVES: Chronic hepatitis B (CHB) is caused by infection of hepatitis B virus (HBV) and liver cirrhosis (LC) is its most common complication. The accumulated evidence indicates a genetic context of HBV infection phenotypes. Here we determine a potential association of CHB/LC with the genetic variant of telomerase reverse transcriptase (TERT), a key player in aging including immune-senescence. METHODS: The study included 227 Chinese CHB patients and 315 sex/age-matched healthy controls...
March 16, 2017: Clinical and Translational Gastroenterology
https://www.readbyqxmd.com/read/28300617/sex-and-gender-related-prevalence-cardiovascular-risk-and-therapeutic-approach-in-metabolic-syndrome-a-review-of-the-literature
#11
REVIEW
Giacomo Pucci, Riccardo Alcidi, Lisanne Tap, Francesca Battista, Francesco Mattace-Raso, Giuseppe Schillaci
Metabolic syndrome (MS), a cluster of metabolic abnormalities linked to insulin-resistance and abdominal obesity, is associated with an increased risk of Type II diabetes mellitus (DM) and cardiovascular (CV) disease. Its prevalence is high, affecting 20% to 30% of the general population, and increases with age in a sex-specific manner: in fact, while below 50 years it is slightly higher in men, it reverses after 50 years. The pronounced age-related increase in the prevalence of MS in women occurs as the result of several factors, which may be classified into sex- and gender-related factors...
March 11, 2017: Pharmacological Research: the Official Journal of the Italian Pharmacological Society
https://www.readbyqxmd.com/read/28295120/geometric-analysis-of-the-proximal-humerus-in-elderly-japanese-patients-implications-for-implant-selection-in-reverse-shoulder-arthroplasty
#12
Keisuke Matsuki, Hiroyuki Sugaya, Shota Hoshika, Yusuke Ueda, Norimasa Takahashi, Morihito Tokai, Kazutomo Onishi, Scott A Banks
The implants used in reverse shoulder arthroplasty were originally designed for white patients; thus, they might not be optimal for smaller Asian patients. The selection of reverse shoulder arthroplasty systems is limited in Japan. The purpose of this study was to measure the geometry of the proximal humerus in elderly Japanese patients to inform implant selection according to humerus size. This study included 155 shoulders from 148 patients 50 years or older who underwent computed tomography for shoulder disorders other than arthritis and trauma...
March 14, 2017: Orthopedics
https://www.readbyqxmd.com/read/28291734/safety-assessment-of-the-aqueous-extract-of-the-flowers-of-nymphaea-lotus-linn-nymphaeaceae-acute-neuro-and-subchronic-oral-toxicity-studies-in-albinos-wistar-rats
#13
Mireille Kameni Poumeni, Danielle Claude Bilanda, Paul Désiré Dzeufiet Djomeni, Yolande Sandrine Mengue Ngadena, Marguerite Francine Mballa, Madeleine Chantal Ngoungoure, Agnès Carolle Ouafo, Théophile Dimo, Pierre Kamtchouing
BACKGROUND: Nymphaea lotus Linn (N. lotus) is a medicinal plant widely used in Cameroon popular medicine, to treat neuropsychiatric conditions, male sexual disorders or as food supplement. However, scientific data on the pharmacotoxic profile of this plant are not available. The safety of N. lotus was assessed in acute, neuro- and subchronic toxicity studies by following the OECD guidelines. Effectively, no data have been published until now in regard to its safety on the nervous system...
March 14, 2017: Journal of Complementary & Integrative Medicine
https://www.readbyqxmd.com/read/28288263/neurofibrillary-tangle-stage-and-the-rate-of-progression-of-alzheimer-symptoms-modeling-using-an-autopsy-cohort-and-application-to-clinical-trial-design
#14
Jing Qian, Bradley T Hyman, Rebecca A Betensky
Importance: The heterogeneity of rate of clinical progression among patients with Alzheimer disease leads to difficulty in providing clinical counseling and diminishes the power of clinical trials using disease-modifying agents. Objective: To gain a better understanding of the factors that affect the natural history of progression in Alzheimer disease for the purpose of improving both clinical care and clinical trial design. Design, Setting, and Participants: A longitudinal cohort study of aging from 2005 to 2014 in the National Alzheimer Coordinating Center...
March 13, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28287839/echocardiographic-evaluation-of-left-ventricular-diastolic-dysfunction-in-subclinical-hypothyroidism-a-case-control-study
#15
Yuthika Malhotra, Rajeev Mohan Kaushik, Reshma Kaushik
PURPOSE: To study the prevalence of left ventricular diastolic dysfunction (LVDD) in patients with subclinical hypothyroidism (SCH) and the response of LVDD to L-thyroxine therapy. MATERIALS AND METHODS: This cross-sectional case-control study with one longitudinal arm included 67 patients with SCH attending a tertiary care hospital in Uttarakhand, India, and 67 age- and sex-matched healthy controls. LVDD was assessed by 2D, pulsed-wave Doppler (PWD), continuous wave Doppler (CWD), and tissue Doppler echocardiography (TDE)...
March 13, 2017: Endocrine Research
https://www.readbyqxmd.com/read/28285313/oxidative-balance-score-and-the-risk-of-end-stage-renal-disease-and-cardiovascular-disease
#16
Titilayo O Ilori, Xiao Wang, Morong Huang, Orlando M Gutierrez, K M Venkat Narayan, Michael Goodman, William McClellan, Laura Plantinga, Akinlolu O Ojo
BACKGROUND: Oxidative balance score (OBS) is a composite measure of oxidative stress-related exposures. The aim of this study was to investigate the association between OBS, end-stage renal disease (ESRD), and cardiovascular disease (CVD). METHODS: Using data from the Chronic Renal Insufficiency Cohort, we calculated the main exposure OBS by summing up 12 apriori-defined pro- and antioxidant factors obtained from the diet history questionnaire and lifestyle assessment...
March 11, 2017: American Journal of Nephrology
https://www.readbyqxmd.com/read/28279683/long-term-pulmonary-complications-in-perinatally-hiv-infected-youth
#17
William T Shearer, Denise L Jacobson, Wendy Yu, George K Siberry, Murli Purswani, Suzanne Siminski, Laurie Butler, Erin Leister, Gwendolyn Scott, Russell B Van Dyke, Ram Yogev, Mary E Paul, Ana Puga, Andrew A Colin, Meyer Kattan
BACKGROUND: Increased incidence and prevalence of asthma have been documented for perinatally HIV-infected (HIV) youth 10-21 years of age (youth) compared to HIV-exposed uninfected (HEU) youth. OBJECTIVE: To perform objective pulmonary function tests (PFTs) in HIV and HEU youth with and without diagnosed asthma. METHOD: Asthma was determined in 370 participants (218 HIV, 152 HEU) by chart review and self-report at 13 sites. Interpretable PFTs (188 HIV, 132 HEU) were classified as obstructive, restrictive, or normal and reversibility was determined after bronchodilator inhalation...
March 6, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28273171/body-mass-index-and-risk-of-advanced-chronic-kidney-disease-prospective-analyses-from-a-primary-care-cohort-of-1-4-million-adults-in-england
#18
William G Herrington, Margaret Smith, Clare Bankhead, Kunihiro Matsushita, Sarah Stevens, Tim Holt, F D Richard Hobbs, Josef Coresh, Mark Woodward
BACKGROUND: It is uncertain whether being overweight, but not obese, is associated with advanced chronic kidney disease (CKD) and how the size and shape of associations between body-mass index (BMI) and advanced CKD differs among different types of people. METHODS: We used Clinical Practice Research Datalink records (2000-2014) with linkage to English secondary care and mortality data to identify a prospective cohort with at least one BMI measure. Cox models adjusted for age, sex, smoking and social deprivation and subgroup analyses by diabetes, hypertension and prior cardiovascular disease assessed relationships between BMI and CKD stages 4-5 and end-stage renal disease (ESRD)...
2017: PloS One
https://www.readbyqxmd.com/read/28271717/low-sustainability-poor-governance-and-other-challenges-encountered-by-grassroots-non-governmental-organizations-targeting-hiv-prevention-for-men-who-have-sex-with-men-in-china-a-nation-wide-study
#19
Joseph T F Lau, Zixin Wang, Yoona Kim, Jinghua Li, Jing Gu, Phoenix K H Mo, Xiaodong Wang
Grassroots non-governmental organizations (NGOs) played pivotal roles in HIV prevention among men who have sex with men (MSM) in China. Their governance and sustainability issues were under-studied. This nation-wide study surveyed leaders of 202 of the HIV related NGOs in China.58.4% of the leaders believed that their NGO would last for ≤5 years; which was negatively associated with perceived good relationship with CDC. 65.3% mentioned ≥3 non-sustainability issues; associated factors included perceived inadequacies in prevention skills, management skills, policy support, technical support, operational support, and CDC's support; a reverse association was found for frequent collaboration with organizations in China...
March 8, 2017: AIDS Care
https://www.readbyqxmd.com/read/28264873/genetically-predicted-telomere-length-is-not-associated-with-pancreatic-cancer-risk
#20
Samuel O Antwi, William R Bamlet, Brendan T Broderick, Kari G Chaffee, Ann L Oberg, Aminah Jatoi, Lisa A Boardman, Gloria M Petersen
BACKGROUND: Epidemiologic associations of leukocyte telomere length (LTL) and pancreatic ductal adenocarcinoma (PDAC) have been inconsistent owing, in part, to variation in telomere length (TL) assessment across studies. To overcome this limitation and address concerns of potential reverse causation, we used carriage of telomere-related alleles to genetically predict TL and examined its association with PDAC. METHODS: A case-control study of 1,500 PDAC cases and 1,500 controls, frequency-matched on age and sex was performed...
March 6, 2017: Cancer Epidemiology, Biomarkers & Prevention
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