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Izabela Łaczmańska, Justyna Kuliczkowska-Płaksej, Agnieszka Stembalska
Short stature, which is defined as height below 2 standard deviations of the mean height for the age and sex, is one of the most frequent reasons for medical consultations in children. Short stature may occur due to a constitutional delay in growth, familial short stature or chronic diseases, including many genetic syndromes, metabolic and endocrine disorders. In this article the authors provide a mini-review of the most frequent genetic syndromes associated with short stature that should be taken into account in the differential diagnosis process...
March 14, 2018: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
Samuel A Pullinger, Juha Oksa, Emma L Brocklehurst, Reece P Iveson, Antonia Newlove, Jatin G Burniston, Dominic A Doran, James M Waterhouse, Ben J Edwards
The present study investigated whether increasing morning rectal temperatures (Trec ) to resting.evening levels, or decreasing evening Trec or muscle (Tm ) temperatures to morning values, would influence repeated sprint (RS) performance in a causal manner. Twelve trained males underwent five sessions [age (mean ± SD) 21.8 ± 2.6 yr, peak oxygen uptake ([Formula: see text] peak) 60.6 ± 4.6 mL kg min-1 , stature 1.78 ± 0.07 m and body mass 76.0 ± 6.3 kg]. These included a control morning (M, 07:30 h) and evening (E, 17:30 h) session (5-min warm-up), and three further sessions consisting of a warm-up morning trial (ME , on a motorised treadmill) until Trec reached evening levels; and two cool-down evening trials (in 16-17°C water) until Trec (EMrec ) or Tm (EMmuscle ) values reached morning temperatures, respectively...
March 20, 2018: Chronobiology International
Maya Laura König, Diana Henke, Katja Adamik, Cristina Pérez Vera
Case summary: A 3-month-old intact male Somali cat was evaluated for a history of seizures, hypoglycaemia and mental dullness 4 weeks after being bitten in the head by a dog. The cat's body size and weight were approximately half that of his littermates and its haircoat was woolly, with fewer guard hairs. Multiple hypoglycaemic episodes were documented over a period of 4 weeks, which resolved rapidly after correction of the hypoglycaemia. Juvenile hyposomatotropism was presumptively diagnosed by demonstrating low circulating levels of insulin-like growth factor 1 and after exclusion of other endocrine and non-endocrine causes of small stature and hypoglycaemia...
January 2018: JFMS Open Reports
Trisha-Jean Mahon, Louise Jacqui Friedling, Guinevere Marianne Gordon
Despite indicating numerous demographic features such as sex, stature, and age; the sacrum remains a relatively insufficiently researched skeletal element. A set pattern of ossification and fusion of the sacrum makes it a useful bone for estimating age-at-death in unknown skeletal individuals. The aims of this study, which examined a black South African skeletal sample, were to establish if fusion correlated to age and to estimate the age at which fusion between the first two sacral vertebrae began and ended...
March 1, 2018: Forensic Science International
Naomi Weintrob, Anita Schachter Davidov, Anat Segev Becker, Galit Israeli, Asaf Oren, Ori Eyal
OBJECTIVE: The total cortisol (TC) response may be measured during the glucagon stimulation test (GST) for growth hormone (GH) reserve in order to assess the integrity of the hypothalamic-pituitary-adrenal (HPA) axis. Measurements of TC are unreliable in conditions of albumin and cortisol-binding globulin (CBG) alterations (e.g., hypoproteinemia or CBG deficiency). We aimed to measure the serum free cortisol (sFC) response to the GST in children and adolescents and determine whether it could predict the GH response to glucagon stimulation...
March 2018: Endocrine Practice
C Le Roy, G Larios, D Springmüller, C Clavería
INTRODUCTION: Children with congenital heart disease (CHD) present a high percentage of undern utrition and the interpretation of their nutritional assessment is difficult. OBJECTIVE: To describe the nutritional status of infants with CHD using two anthropometric classifications and compare them. PATIENTS AND METHOD: Non-concurrent cohort study. We studied children under 12 months under going cardiac surgery. We excluded preterm infants, small for gestational age, carriers of genetic syndrome or other disease with nutritional compromise...
December 2017: Revista Chilena de Pediatría
Michael B Ranke, Jan M Wit
Growth hormone (GH) research and its clinical application for the treatment of growth disorders span more than a century. During the first half of the 20th century, clinical observations and anatomical and biochemical studies formed the basis of the understanding of the structure of GH and its various metabolic effects in animals. The following period (1958-1985), during which pituitary-derived human GH was used, generated a wealth of information on the regulation and physiological role of GH - in conjunction with insulin-like growth factors (IGFs) - and its use in children with GH deficiency (GHD)...
March 16, 2018: Nature Reviews. Endocrinology
Charles Cai, Taimur Ahmad, Gloria B Valencia, Jacob V Aranda, Jiliu Xu, Kay D Beharry
OBJECTIVES: Extremely low gestational age neonates with chronic lung disease requiring oxygen therapy frequently experience fluctuations in arterial oxygen saturation or intermittent hypoxia (IH). These infants are at risk for multi-organ developmental delay, reduced growth, and short stature. The growth hormone (GH)/insulin-like growth factor-I (IGF-1) system, an important hormonal regulator of lipid and carbohydrate metabolism, promotes neonatal growth and development. We tested the hypothesis that increasing episodes of IH delay neonatal growth by influencing the GH/IGF-I axis...
March 8, 2018: Growth Hormone & IGF Research
Huihui Sun, Naijun Wan, Xinli Wang, Liang Chang, Dazhi Cheng
18p deletion syndrome is a rare chromosomal disease caused by deletion of the short arm of chromosome 18. By using cytogenetic and SNP array analysis, we identified a girl with 18p deletion syndrome exhibiting craniofacial anomalies, intellectual disability, and short stature. G-banding analysis of metaphase cells revealed an abnormal karyotype 46,XX,del(18)(p10). Further, SNP array detected a 15.3-Mb deletion at 18p11.21p11.32 (chr18:12842-15375878) including 61 OMIM genes. Genotype-phenotype correlation analysis showed that clinical manifestations of the patient were correlated with LAMA1, TWSG1, and GNAL deletions...
March 16, 2018: Cytogenetic and Genome Research
Ana Henriques, Vânia Teixeira, Hugo Fv Cardoso, Ana Azevedo
OBJECTIVE: To retrospectively investigate the association between short stature and increased sitting height ratio (SHR) - indicators of stunting - and obesity markers in adults. DESIGN: Cross-sectional evaluation of the EPIPorto cohort. Weight, height, sitting height and waist circumference were measured. Obesity was assessed for men and women through BMI and waist-to-height ratio (WHtR). Short stature (women, <152 cm; men, <164 cm) and high SHR (women, ≥54·05 %; men, ≥53·25 %) were taken as stunting measures...
March 15, 2018: Public Health Nutrition
Assimina Galli-Tsinopoulou, Eleni P Kotanidou, Aggeliki N Kleisarchaki, Rivka Kauli, Zvi Laron
Congenital Isolated growth hormone deficiency (IGHD) type Ib is an autosomal recessive genetic condition caused by mutations of GH1 or the GH releasing hormone receptor (GHRH-R) gene. Affected subjects present symptoms of GHD with low but detectable levels of GH, short stature and responsiveness to GH therapy. We describe a 13-month old girl with severe growth failure who showed a low hGH in response to 2 hGH provocative tests and a modest increase of IGF-I to an IGF-I generation test. Whole exome sequencing revealed a novel homozygous variant of the GHRH-R gene (c...
February 28, 2018: Journal of Clinical Research in Pediatric Endocrinology
Nataliya Zelinska, Iryna Shevchenko, Evgenia Globa
BACKGROUND: We investigated the prevalence of Turner syndrome (TS) in Ukrainian population, the frequency of karyotype variants, the age of children at diagnosis, the degree of short stature and phenotypic features in TS girls. MATERIAL AND METHODS: A retrospective analyses was made in 538 TS girls aged 0.11-18.2 years old within the period of 2005-2015 with detailed examination of 150 patients. RESULTS AND DISCUSSION: The prevalence of TS in Ukraine is 77...
February 28, 2018: Journal of Clinical Research in Pediatric Endocrinology
Hema Singh, Pradeep Tiwari, Vijay Bhavi, Praveen Singh Chaudhary, Prashanth Suravajhala, M Krishna Mohan, Sandeep Kumar Mathur
Background: Human height is a classic polygenic trait and currently available data explains only 10% of the phenotypic variation in height. Almost 60%-80% of the children coming to pediatric and endocrinology outpatient department for the evaluation of short stature are still labeled as idiopathic. Objectives: The aim of this study is to identify various chromosomal alterations causing idiopathic short stature (ISS) and short stature with dysmorphic features not pertaining to known genetic syndromes...
January 2018: Indian Journal of Endocrinology and Metabolism
Andy Morris, Kerstin Erles, Thomas W Maddox
A 2-year-old cat was presented with the complaint of acute-onset non-weight-bearing lameness of the right forelimb. When examined, the cat was of short stature and had multiple joint and cartilaginous abnormalities suggestive of chondrodysplasia. The cause of the acute lameness was radiographically identified as a displaced osseous fragment from the medial portion of the right humeral condyle. The features of the osseous fragment were consistent with an ununited medial condylar ossification centre of the distal humerus...
February 2018: Veterinary and Comparative Orthopaedics and Traumatology: V.C.O.T
Krisnarta Sembiring, Oke Rina Ramayani, Munar Lubis
BACKGROUND: Dyssomnia is the most frequent sleep disturbance and associated with increased blood pressure. There has been no study determining the difference in mean blood pressure based on dyssomnia types among adolescents. OBJECTIVE: To determine the difference in mean blood pressure among adolescents based on dyssomnia types. METHODS: Cross-sectional study was conducted in SMP Negeri 1 Muara Batang Gadis in April 2016. Samples were students having sleep disturbance based on Sleep Disturbance Scale for Children (SDSC) questionnaire...
February 15, 2018: Open Access Macedonian Journal of Medical Sciences
Allan Bayat, Lisbeth Birk Møller, Tina Duelund Hjortshøj
KBG syndrome is a rare condition characterised by macrodontia of the upper central incisors, distinctive craniofacial findings, short stature, skeletal anomalies, and neurologic involvement including global developmental delay, seizures, and intellectual disability. This is a case report of a seven-year-old boy, who presented with symptoms fulfilling the diagnostic criteria of KBG syndrome, molecularly confirmed by detection of a heterozygous mutation in ANKRD11. To our knowledge, this is the first patient diagnosed with KBG syndrome in Denmark...
March 12, 2018: Ugeskrift for Laeger
Michael Wilkinson, Alistair Ewen, Nicholas Caplan, David O'Leary, Neil Smith, Richard Stoneham, Lee Saxby
The effect of textured insoles on kinetics and kinematics of overground running was assessed. 16 male injury-free-recreational runners attended a single visit (age 23 ± 5 yrs; stature 1.78 ± 0.06 m; mass 72.6 ± 9.2 kg). Overground 15-m runs were completed in flat, canvas plimsolls both with and without textured insoles at self-selected velocity on an indoor track in an order that was balanced among participants. Average vertical loading rate and peak vertical force (Fpeak ) were captured by force platforms...
March 12, 2018: European Journal of Sport Science
Ceren D Durmaz, John McGrath, Lu Liu, Halil G Karabulut
Focal dermal hypoplasia (FDH), also known as Goltz-Gorlin syndrome, is a rare, multisystemic, X-linked dominant genodermatosis characterized by defective development of mesodermal and ectodermal tissues. Major clinical features of the disorder are skin manifestations, skeletal defects, and developmental eye abnormalities. FDH is caused by heterozygous mutations in the PORCN gene located at Xp11.23, and 90% of individuals with FDH are females. Here, we report a female patient with cutaneous changes, multiple eye anomalies, short stature, and ectrodactyly of the right foot...
March 10, 2018: Cytogenetic and Genome Research
Wacław Jeż, Beata Tobiasz-Adamczyk, Piotr Brzyski, Mikołaj Majkowicz, Piotr Pankiewicz, Tomasz J Irzyniec
BACKGROUND: Turner syndrome (TS) appears in women as a result of the lack of part or the whole of one of the X chromosomes. It is characterized by the occurrence of low height, hypogonadism, numerous developmental defects, and is often accompanied by psychological disturbances. OBJECTIVES: Although the phenotype characteristics of women with TS are quite well documented, the knowledge of the impact of Turner syndrome on the satisfaction with life is still insufficient...
February 2018: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
Shaji C Menon, Ragheed Al-Dulaimi, Brian W McCrindle, David J Goldberg, Ritu Sachdeva, Bryan H Goldstein, Thomas Seery, Karen C Uzark, Anjali Chelliah, Ryan Butts, Heather Henderson, Tiffanie Johnson, Richard V Williams
INTRODUCTION: We sought to evaluate the prevalence of delayed puberty and abnormal anthropometry and its association with quality of life (QoL) in young Fontan survivors. METHODS: This was a cross-sectional study at 11 Pediatric Heart Network centers. Demographic and clinical data, anthropomety, and Tanner stage were collected. Anthropometric measurements and pubertal stage were compared to US norms. QoL was assessed using Pediatric Quality of Life inventory (PedsQL)...
March 9, 2018: Congenital Heart Disease
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