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Short stature

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
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
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
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
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
Katarzyna Iwanicka-Pronicka, Magdalena Socha, Maria Jędrzejowska, Małgorzata Krajewska-Walasek, Aleksander Jamsheer
Holt-Oram syndrome (HOS) features radial ray hypoplasia, heart defect and cardiac conduction impairment. Ulnar-mammary syndrome (UMS) characterizes congenital defects of the ulnar side of the upper limbs, underdevelopment of apocrine glands including hypoplasia and the dysfunction of mammary glands, hypogonadism and obesity. Inheritance of both conditions is autosomal dominant, mutations or deletions are found in the TBX5 and TBX3 gene, respectively. The Polish patient presented short stature, obesity, congenital malformation of the radial and ulnar side of the upper limbs, heart block, hypogonadism and dysmorphic features...
2016: SpringerPlus
Jae-Ho Yoo
The menarcheal age of Korean women has been rapidly decreasing for the last 50 years, and the average menarcheal age of women born in the 1990s is approaching 12.6 years. In addition, interest in early puberty has been increasing recently owing to the rapid increase in precocious puberty. Generally, out of concern for short stature and early menarche, idiopathic central precocious puberty in female adolescents is treated with gonadotropin-releasing hormone analogs. Studies to date have described the association between early menarche and psychosocial problems such as delinquency and risky sexual behavior, as well as physical health problems such as obesity, diabetes, cardiovascular diseases, and breast cancer throughout the lifespan of women...
September 2016: Korean Journal of Pediatrics
Kristin D Kernohan, Arran McBride, Yanwei Xi, Nicole Martin, Jeremy Schwartzentruber, David A Dyment, Jacek Majewski, Susan Blaser, Kym M Boycott, David Chitayat
Post translational protein modifications exponentially expand the functional complement of proteins encoded by the human genome. One such modification is the covalent addition of a methyl group to arginine or lysine residues, which is used to regulate a substantial proportion of the proteome. Arginine and lysine methylation are catalyzed by protein arginine methyltransferase (PRMTs) and protein lysine methyltransferase proteins (PKMTs), respectively; each methyltransferase has a specific set of target substrates...
October 8, 2016: Clinical Genetics
Jose Bernardo Quintos, Juanita K Hodax, Bryn A Gonzales-Ellis, Chanika Phornphutkul, Michael P Wajnrajch, Charlotte M Boney
Kearns-Sayre syndrome (KSS) is characterized by external ophthalmoplegia, retinal pigmentation and cardiac conduction defects due to mitochondrial DNA (mtDNA) deletions. Short stature and growth hormone (GH) deficiency have been reported in KSS, but data on GH treatment is limited. We describe the clinical presentation, phenotype evolution, and response to GH in a patient with KSS and report data on eight additional KSS patients from the KIGS database. Our patient with KSS and GH deficiency achieved a final adult height at -0...
October 8, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
Ayman A Zayed, Abdallah M Beano, Faris I Haddadin, Sohab S Radwan, Suhaib A Allauzy, Motasem M Alkhayyat, Zaid A Al-Dahabrah, Yanal G Al-Hasan, Al-Motassem F Yousef
BACKGROUND: The prevalence of short stature (SS) and underweight in Jordan on a national level is unknown. This study aimed to investigate, on a national level, the prevalence of short stature (SS), underweight, overweight, and obesity among school aged children in Jordan. METHODS: This cross-sectional study was conducted from May 2015 to January 2016 and included 2702 subjects aged 6-17 years. Jordan was classified into 3 regions; North, Center (urban), and South (rural)...
October 3, 2016: BMC Public Health
Franz Alisch, Alexander Weichert, Karim Kalache, Viola Paradiso, Ann Carolin Longardt, Christof Dame, Katrin Hoffmann, Denise Horn
Gordon syndrome or distal arthrogryposis type 3 is a rare autosomal dominant disorder characterized by contractures of upper and lower limbs. It is distinguishable from other forms of distal arthrogryposis by cleft palate and short stature. Recently, Gordon syndrome has been associated to heterozygous mutations in the piezo-type mechanosensitive ion channel component 2 gene (PIEZO2). Different mutations of this gene also cause distal arthrogryposis type 5 and Marden-Walker syndrome. Dysfunction of this ion channel provides pleiotropic effects on joints, ocular muscles, and bone development...
October 7, 2016: American Journal of Medical Genetics. Part A
Mohd Ashraf Ganie, Nishant Raizada, Himika Chawla, Arun Kumar Singh, Sandeep Aggarwala, Chandra Sekhar Bal
Primary hyperparathyroidism, typically a disease of the middle aged and the old, is less commonly seen in children. In children the disease has a bimodal age distribution with calcium sensing receptor mutation presenting in infancy as hypercalcemic crises and parathyroid adenoma or hyperplasia presenting later in childhood with bone disease. The childhood parathyroid adenomas are often familial with multiglandular disease and manifest with severe bone disease unlike adults. We report a series of four male patients with juvenile primary hyperparathyroidism, three of whom presented with bone disease masquerading as rickets-osteomalacia...
October 1, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
Marion Kessler, Michael Tenner, Michael Frey, Richard Noto
BACKGROUND: The objective of the study was to describe the pituitary volume (PV) in pediatric patients with isolated growth hormone deficiency (IGHD), idiopathic short stature (ISS) and normal controls. METHODS: Sixty-nine patients (57 male, 12 female), with a mean age of 11.9 (±2.0), were determined to have IGHD. ISS was identified in 29 patients (20 male, 9 female), with a mean age of 12.7 (±3.7). Sixty-six controls (28 female, 38 male), mean age 9.8 (±4.7) were also included...
October 1, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
Manouk van der Steen, Rolph Pfundt, Stephan J W H Maas, Willie M Bakker-vanWaarde, Roelof J Odink, Anita C S Hokken-Koelega
BACKGROUND: Some children born SGA show advanced bone age (BA) during GH treatment. ACAN-gene mutations have been described in children with idiopathic short stature and advanced BA. OBJECTIVE: To determine presence of ACAN-gene mutations in short SGA children with advanced BA and to assess the response to GH treatment. METHODS: BA assessment in 290 GH-treated SGA children and ACAN-sequencing in 29 children with advanced BA of ≥0.5 years compared to calendar age...
October 6, 2016: Journal of Clinical Endocrinology and Metabolism
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