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Elizabeth J Bhoj, Zhenming Yu, Qiaoning Guan, Rebecca Ahrens-Nicklas, Kajia Cao, Minjie Luo, Tanya Tischler, Matthew A Deardorff, Elaine Zackai, Avni B Santani
INTRODUCTION: RASopathies include disorders generally characterized by developmental delay, specific heart defects, short stature, cardiac hypertrophy, and facial dysmorphisms. Next-generation sequencing (NGS)-based panels have widespread acceptance as a diagnostic tool for RASopathies. MATERIALS AND METHODS: The first 126 patients evaluated by clinical examination and the NGS RASopathy panel at the Children's Hospital of Philadelphia were enrolled. We calculated diagnosis rate, correlated reported clinical findings with positive or negative test results, and identified final molecular diagnoses in 28/96 patients who tested negative for RASopathies...
October 20, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Nassib Bezerra Bueno, Telma Toledo Florêncio, Fabiana Albuquerque Cavalcante, Isabela Lopes Lins, Ana Grotti Clemente, Ana Lydia Sawaya
BACKGROUND: Short stature in adult life, a possible consequence of poor perinatal conditions, is associated with higher risk of mortality and social disabilities. We aimed to determine whether low-income, overweight/obese, short-stature (SS) women show alterations in body composition, self-body-image perception, and biochemical profile compared to their non-short (NS) counterparts. METHODS: A cross-sectional study was conducted with women living in shantytowns and mother or relatives to undernourished children treated in a center for recuperation and nutritional education...
2016: PeerJ
María Elisa Zapata, María Del Mar Bibiloni, Josep A Tur
INTRODUCTION: The aim of this work was to assess the prevalence of overweight, obesity, abdominal-obesity and short stature among Rosario (Argentina) adult population. MATERIALS AND METHODS: A cross-sectional nutritional survey was carried out in Rosario (2012-2013). A random sample (n = 1194) of adult population (18-70 years old) was interviewed. Anthropometric measurements and a general questionnaire incorporating questions related to socio-demographic and lifestyle characteristics, education level and physical activity were used...
September 20, 2016: Nutrición Hospitalaria: Organo Oficial de la Sociedad Española de Nutrición Parenteral y Enteral
Yu Sun, Guorui Hu, Huili Liu, Xia Zhang, Zhuo Huang, Hui Yan, Lili Wang, Yanjie Fan, Xuefan Gu, Yongguo Yu
KMT2A mutations cause Wiedemann-Steiner syndrome (WDSTS), which is characterized by hypertrichosis cubiti, short stature, and distinct facial features in general. Here, we report two Chinese boys with novel nonsense KMT2A mutations. Most of their phenotypes are concordant with WDSTS. They, however, lack the key WDSTS feature-hypertrichosis cubiti. Additionally, their transverse palmar creases are absent. We further summarized the genotypes and phenotypes of the KMT2A mutation carriers. The consensus phenotypes include postnatal growth retardation, developmental delay, short stature, and intellectual disability...
October 19, 2016: American Journal of Medical Genetics. Part A
Molly Carnes, Paula Johnson, Wendy Klein, Marjorie Jenkins, C Noel Bairey Merz
Gender-based bias and conflation of gender and status are root causes of disparities in women's health care and the slow advancement of women to leadership in academic medicine. More than a quarter of women physicians train in internal medicine and its subspecialties, and women physicians almost exclusively constitute the women's health focus within internal medicine. Thus, internal medicine has considerable opportunity to develop women leaders in academic medicine and promote women's health equity.To probe whether holding an endowed chair-which confers status-in women's health may be an effective way to advance women leaders in academic medicine and women's health, the authors explored the current status of endowed chairs in women's health in internal medicine...
October 18, 2016: Academic Medicine: Journal of the Association of American Medical Colleges
Hilary Jericho, Naire Sansotta, Stefano Guandalini
OBJECTIVE: To evaluate the effectiveness of the GFD on extra-intestinal symptoms in pediatric and adult celiac populations at the University of Chicago (UofC). METHODS: We conducted a retrospective chart review of the UofC Celiac Center clinic charts from January 2002 to October 2014. Demographics, serologic testing, intestinal biopsies, and extra-intestinal symptoms at presentation, 12, 24, and greater than 24 months were recorded. Extra-intestinal symptoms included: abnormal liver enzymes, arthralgia/arthritis, dermatitis herpetiformis (DH), alopecia, fatigue, headache, anemia, stomatitis, myalgias, psychiatric disorders, rashes, seizures, neuropathy, short stature, delayed puberty, osteoporosis and infertility...
October 13, 2016: Journal of Pediatric Gastroenterology and Nutrition
Shahrzad Jafari-Adli, Mostafa Qorbani, Ramin Heshmat, Shirin Hasani Ranjbar, Ehsaneh Taheri, Mohammad Esmaeil Motlagh, Mehdi Noorozi, Omid Safari, Gita Shafiee, Fatemeh Rezaei, Saeid Safiri, Roya Kelishadi
BACKGROUND: Data on stature in Iranian children and adolescents at national level are limited. The purpose of this study was to investigate the association of short stature with life satisfaction (LS) and self-rated health (SRH) in children and adolescents. METHODS: Data were obtained from a nationwide survey entitled childhood and adolescence surveillance and prevention of adult non-communicable disease (CASPIAN IV). Participants were 14,880 children and adolescents, aged 6-18 years, who were selected using multistage, cluster sampling method from rural and urban areas of 30 provinces of Iran...
October 18, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
Chih-Ping Chen, Chen-Yu Chen, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Chen-Chi Lee, Dai-Dyi Town, Meng-Shan Lee, Chien-Wen Yang, Wayseen Wang
OBJECTIVE: We present molecular cytogenetic characterization of an Xp22.32→pter deletion and an Xq26.3→qter duplication in a male fetus with congenital malformations and maternal X chromosome pericentric inversion. MATERIALS AND METHODS: A 22-year-old woman underwent amniocentesis at 17 weeks of gestation because of an abnormal maternal serum screening result. Prenatal ultrasound revealed a hypoplastic left heart and short limbs. Amniocentesis revealed a karyotype of 46,Y,der(X) t(X;?)(p22...
October 2016: Taiwanese Journal of Obstetrics & Gynecology
Youn Hee Jee, Nadine Sowada, Thomas C Markello, Iraj Rezvani, Guntram Borck, Jeffrey Baron
Linear growth failure can be caused by many different genetic abnormalities. In many cases, the genetic defect affects not only the growth plate, causing short stature, but also other organs/tissues causing additional clinical abnormalities. The proband was evaluated at 10 years of age for impaired postnatal linear growth (height 113.3 cm, -4.6 SDS), a bone age that was delayed by 5 years, dysmorphic facies, cognitive impairment, and central nervous system anomalies. His younger brother, presented only with growth failure at 10 months of age...
October 17, 2016: Clinical Genetics
Jai Thilak, Melvin J George
BACKGROUND: The correct sizing of the components in both anteroposterior and mediolateral (ML) dimensions is crucial for the success of a total knee arthroplasty (TKA). The size of the implants selected is based on the intraoperative measurements. The currently used TKA implants available to us are based on morphometric measurements obtained from a Western/Caucasian population. Hence, the risk of component ML mismatch is more common in Asian sub-population, as they are of a smaller built and stature...
September 2016: Indian Journal of Orthopaedics
Dongzhu Lei, Shaoyuan Li, Santasree Banerjee, Haoqing Zhang, Caiyun Li, Shuai Hou, Danjing Chen, Haiying Yan, Hanmei Li, Huan Huan Peng, Saijun Liu, Xinxin Zhang, Zhiyu Peng, Jian Wang, Huanming Yang, Hui Huang, Jing Wu
Phelan-McDermid syndrome is a neurodevelopmental disorder caused by the terminal deletion of chromosome 22 (22q13) followed by the loss of function of the SHANK3 gene. Various terminal deletions of chromosome 22q13 are associated with Phelan-McDermid with a spectrum of phenotypic severity. Here, we have done a clinical molecular study of a Chinese proband with Phelan-McDermid syndrome. Both the proband and her younger brother are associated with this syndrome while their parents are phenotypically normal. We used a karyotype in order to detect the genotype of the proband and her younger brother...
October 10, 2016: Oncotarget
Sarah Abdullah, William Reginold, Courtney Kiss, Karen J Harrison, Jennifer J MacKenzie
Childhood obesity is a growing health concern, associated with significant physical and psychological morbidity. Childhood obesity is known to have a strong genetic component, with mutations in the melanocortin-4 receptor (MC4R) gene being the most common monogenetic cause of obesity. Over 166 different MC4R mutations have been identified in persons with hyperphagia, severe childhood obesity, and increased linear growth. However, it is unclear whether the MC4-R deficiency phenotype is due to haploinsufficiency or dominant-negative effects by the mutant receptor...
2016: Case Reports in Pediatrics
Sandra Cridlin
Osteometric measurements of the femur are consistently used to estimate stature, sex, and race in constructing demographic profiles. The presence of positive or negative changes in the size of the maximum vertical diameter of the femoral head could potentially affect the validity of such profiles. Additionally, changes in femoral head size may be an indicator of the socioeconomic status, health, and nutrition of a population over periods of time. Two large data sets consisting of white male and white female femoral vertical head diameter measurements with birth years spanning 1841-1990 are used in this study...
January 2016: Human Biology
Daniel J Wescott, Lauren Rockhold Zephro
Over the past two centuries there have been documented secular changes in stature, weight, body proportions, and skeletal maturation rates in the United States. These changes along with a more sedentary lifestyle are likely reflected in femur morphology. Here we examine secular changes in diaphyseal cross-sectional size, shape, area, robusticity, and rigidity at midshaft and subtrochanteric of the femur using 395 adult white females and males from the United States born between the 1850s and the 1970s. The effect of secular change was controlled for an age effect...
January 2016: Human Biology
Richard L Jantz, Lee Meadows Jantz, Joanne L Devlin
Secular change in height has been extensively investigated, but size and shape of the postcranial skeleton much less so. The availability of large, documented collections of nineteenth- and twentieth-century skeletons makes it possible to examine changes in skeletal structure over the past 150 years. We examined secular changes in long bone lengths and proportions, their allometric relationship to stature, and crosssectional properties of long bone shafts. Bone measurements and stature were organized into 10-year birth cohorts, ranging from 1840 to 1989...
January 2016: Human Biology
Natalie R Langley, Sandra Cridlin
Secular changes refer to short-term biological changes ostensibly due to environmental factors. Two well-documented secular trends in many populations are earlier age of menarche and increasing stature. This study synthesizes data on maximum clavicle length and fusion of the medial epiphysis in 1840-1980 American birth cohorts to provide a comprehensive assessment of developmental and morphological change in the clavicle. Clavicles from the Hamann-Todd Human Osteological Collection (n = 354), McKern and Stewart Korean War males (n = 341), Forensic Anthropology Data Bank (n = 1,239), and the McCormick Clavicle Collection (n = 1,137) were used in the analysis...
January 2016: Human Biology
Richard L Jantz, Lee Meadows Jantz
Secular changes in stature, weight, or other components of the body that can be obtained from historical records have been extensively studied. Cranial change has been central to anthropology for more than a century, but the focus has normally been on change measured in centuries or millennia. Cranial change measured in decades, normally considered to result from plastic response to the environment, has been less studied. This article reports on change in cranial vault dimensions in white Americans. Variables were glabello-occipital length (GOL), basion-bregma height (BBH), basion-nasion length (BNL), maximum cranial breadth (XCB), and biauricular breadth (AUB)...
January 2016: Human Biology
Richard J Silverwood, Lee Williamson, Emily M Grundy, Bianca L De Stavola
Socioeconomically disadvantaged children are more likely to be of shorter stature and overweight, leading to greater risk of obesity in adulthood. Disentangling the mediatory pathways between socioeconomic disadvantage and childhood size may help in the development of appropriate policies aimed at reducing these health inequalities. We aimed to elucidate the putative mediatory role of birth weight using a representative sample of the Scottish population born 1991-2001 (n = 16,628). Estimated height and overweight/obesity at age 4...
2016: PloS One
Michala Vosátková, Denisa Janíčková Žďarská, Václav Zamrazil, Martina Salátová, Martin Hill, Karel Vondra
INTRODUCTION: In patients with type 1 and 2 diabetes mellitus only rare data concerning the status of iodine supplementation and impact of possible iodine deficiency is available. AIM: To get basic information about (a) state of supply with iodine in patients with type 1 diabetes mellitus (DM1T), (b) the difference from non-diabetic population, (c) possible association of iodine saturation with some clinical and laboratory features of the diabetic syndrome, including the state of thyroid gland...
2016: Vnitr̆ní Lékar̆ství
Fábio Lera Orsatti, Paulo Ricardo Prado Nunes, Aletéia de Paula Souza, Fernanda Maria Martins, Anselmo Alves de Oliveira, Rosekeila Simões Nomelini, Márcia Antoniazi Michelin, Eddie Fernando Cândido Murta
BACKGROUND: Menopause increases body fat and decrease muscle mass and strength which contribute to sarcopenia. The amount of appendicular muscle mass has been frequently used to diagnose sarcopenia. Different measures of appendicular muscle mass have been proposed. However, no studies compared the most salient measure (appendicular muscle mass corrected by body fat) of the appendicular muscle mass to physical function in postmenopausal women. OBJECTIVE: To examine the association of three different measures of appendicular muscle mass (absolute, corrected by stature and corrected by body fat) with physical function in postmenopausal women...
October 8, 2016: PM & R: the Journal of Injury, Function, and Rehabilitation
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