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https://www.readbyqxmd.com/read/29150103/body-composition-of-fanconi-anemia-patients-after-hematopoietic-stem-cell-transplantation
#1
Priscilla Peixoto Policarpo da Silva, Daniella Schmit, Carmem Bonfim, Denise Johnsson Campos, Estela Iraci Rabito, Regina Maria Vilela
INTRODUCTION: Fanconi anemia is a rare genetic disease linked to bone marrow failure; a possible treatment is hematopoietic stem cell transplantation. Changes in the nutritional status of Fanconi anemia patients are not very well known. This study aimed to characterize body composition of adult, children and adolescent patients with Fanconi anemia who were submitted to hematopoietic stem cell transplantation or not. METHODS: This cross-sectional study enrolled 63 patients (29 adults and 34 children and adolescents)...
October 2017: Revista Brasileira de Hematologia e Hemoterapia
https://www.readbyqxmd.com/read/29149593/notch2-hajdu-cheney-mutations-escape-scf-fbw7-dependent-proteolysis-to-promote-osteoporosis
#2
Hidefumi Fukushima, Kouhei Shimizu, Asami Watahiki, Seira Hoshikawa, Tomoki Kosho, Daiju Oba, Seiji Sakano, Makiko Arakaki, Aya Yamada, Katsuyuki Nagashima, Koji Okabe, Satoshi Fukumoto, Eijiro Jimi, Anna Bigas, Keiichi I Nakayama, Keiko Nakayama, Yoko Aoki, Wenyi Wei, Hiroyuki Inuzuka
Hajdu-Cheney syndrome (HCS), a rare autosomal disorder caused by heterozygous mutations in NOTCH2, is clinically characterized by acro-osteolysis, severe osteoporosis, short stature, neurological symptoms, cardiovascular defects, and polycystic kidneys. Recent studies identified that aberrant NOTCH2 signaling and consequent osteoclast hyperactivity are closely associated with the bone-related disorder pathogenesis, but the exact molecular mechanisms remain unclear. Here, we demonstrate that sustained osteoclast activity is largely due to accumulation of NOTCH2 carrying a truncated C terminus that escapes FBW7-mediated ubiquitination and degradation...
November 16, 2017: Molecular Cell
https://www.readbyqxmd.com/read/29147600/osteoglophonic-dysplasia-phenotypic-and-radiological-clues
#3
Shwetha Kuthiroly, Dhanya Yesodharan, Aneesh Ghosh, Kenneth E White, Sheela Nampoothiri
Osteoglophonic dysplasia (OD) is an extremely rare, skeletal dysplasia with an autosomal dominant mode of inheritance. Rhizomelic dwarfism, craniosynostosis, impacted teeth, hypodontia or anodontia, and multiple nonossifying bone lesions are the salient features of this condition. We report a 14-year-old girl with clinical and radiological features consistent with OD. She presented with disproportionate short stature, craniosynostosis, a prominent supraorbital ridge, delayed teeth eruption, hypodontia, and multiple nonossifying bone lesions in the femur, tibia, and fibula...
December 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29147571/a-surprising-treatment-response-in-a-patient-with-rare-isolated-growth-hormone-deficiency-type-ib
#4
Jordan Yardain Amar, Kimberly Borden, Elizabeth Watson, Talin Arslanian
Isolated Growth Hormone Deficiency (IGHD) is a rare cause of short stature, treated with the standard regimen of subcutaneous synthetic growth hormone (GH). Patients typically achieve a maximum height velocity in the first year of treatment, which then tapers shortly after treatment is stopped. We report a case of a 9-year-old male who presented with short stature (<3rd percentile for age and race). Basal hormone levels showed undetectable serum IGF1. Skeletal wrist age was consistent with chronologic age...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/29147569/growth-hormone-insensitivity-mexican-case-report
#5
I Castilla-Cortazar, J R De Ita, G A Aguirre, M García-Magariño, I Martín-Estal, V J Lara-Diaz, M I Elizondo
Herein, we present a 14-year-old patient with short stature (134 cm) referred from Paediatrics to our department for complementary evaluation since growth hormone (GH) treatment failed to show any improvement. He was born premature and small for gestational age. Genital examination classified the patient as Tanner I-II with small penis and testicular size for his age. Biochemical analyses revealed normal GH levels with low serum insulin-like growth factor-1 (IGF-1). Molecular diagnosis confirmed several mutations in IGF1R and IGFALS, and so he was diagnosed with Laron Syndrome or GH insensibility and treated with IGF-1 substitutive therapy...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/29141928/reversible-brain-lesion-following-growth-hormone-replacement-therapy-in-an-adolescent
#6
Adamos Hadjipanayis, Elisavet Efstathiou, Leda Theophilou, George Chrousos
A 12.6-year-old girl presented with a 2-month history of headache, recurrent vomiting and 5 kg weight loss. She had been receiving recombinant human growth hormone (rhGH) replacement therapy at a dose of 0.035 mg/kg for the past 10 months, due to short stature. Investigations before initiating rhGH, including brain MRI, had been normal. Physical examination revealed a nystagmus and a mildly elevated arterial blood pressure. Brain MRI revealed a lesion in the posterior aspect of the medulla oblongata, adjacent to the foramen of Magendie...
November 14, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29141319/-homozygous-ectonucleotide-pyrophosphatase-phosphodiesterase-1-variants-in-a-girl-with-hypophosphatemic-rickets-and-literature-review
#7
Z Q Liu, X B Chen, F Y Song, K Gao, M F Qiu, Y Qian, M Du
Objective: To investigate the clinical features and genetic characteristics of patients with ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene variants. Method: The clinical data of a patient with ENPP1 homozygous variants from Capital Institute of Pediatrics was collected, the related literature was searched from China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform, National Center from Biotechnology Information and PubMed by using search term "ENPP1" , "hypophosphatemic rickets" ...
November 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29138706/radiological-diagnosis-of-a-rare-premature-aging-genetic-disorder-progeria-hutchinson-gilford-syndrome
#8
Haji Mohammed Nazir, Akshiitha Ramesh Baabhu, Yuvaraj Muralidharan, Seena Cheppala Rajan
Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare disease with a combination of short stature, bone abnormalities, premature ageing, and skin changes. Though the physical appearance of these patients is characteristic, there is little emphasis on the characteristic radiological features. In this paper, we report a 16-year-old boy with clinical and radiological features of this rare genetic disorder. He had a characteristic facial appearance with a large head, large eyes, thin nose with beaked tip, small chin, protruding ears, prominent scalp veins, and absence of hair...
2017: Case Reports in Radiology
https://www.readbyqxmd.com/read/29138656/-hyperthyroidism-in-children-at-the-university-hospital-in-dakar-senegal
#9
Djibril Boiro, Demba Diédhiou, Babacar Niang, Djiby Sow, Mandiaye Mbodj, Anna Sarr, Aliou Abdoulaye Ndongo, Aliou Thiongane, Modou Guèye, Lamine Thiam, Ndiogou Seck, Yaay Joor Dieng, Abou Ba, Idrissa Demba Ba, Ibrahima Mané Diallo, Ousmane Ndiaye, Said Nourou Diop
Introduction: Hyperthyroidism in children is rare and constitutes a problem because of its psychosomatic impact. This study aimed to present an overview of the state of knowledge on these aspects in children from Dakar. Methods: We conducted a multicenter, descriptive study over a period of 15 years. We evaluated the epidemiological, clinical and etiologic aspects of hyperthyroidism in children. Results: 239 patients were included in the study with a prevalence of 2...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/29137650/recessive-vars2-mutation-underlies-a-novel-syndrome-with-epilepsy-mental-retardation-short-stature-growth-hormone-deficiency-and-hypogonadism
#10
Abdulaziz Alsemari, Banan Al-Younes, Ewa Goljan, Dyala Jaroudi, Faisal BinHumaid, Brian F Meyer, Stefan T Arold, Dorota Monies
BACKGROUND: Most mitochondrial and cytoplasmic aminoacyl-tRNA synthetases (aaRSs) are encoded by nuclear genes. Syndromic disorders resulting from mutation of aaRSs genes display significant phenotypic heterogeneity. We expand aaRSs-related phenotypes through characterization of the clinical and molecular basis of a novel autosomal-recessive syndrome manifesting severe mental retardation, ataxia, speech impairment, epilepsy, short stature, microcephaly, hypogonadism, and growth hormone deficiency...
November 14, 2017: Human Genomics
https://www.readbyqxmd.com/read/29136292/clinical-and-genetic-characteristics-of-pseudohypoparathyroidism-in-the-chinese-population
#11
Xueying Chu, Yan Zhu, Ou Wang, Min Nie, Tingting Quan, Yu Xue, Wenbo Wang, Yan Jiang, Mei Li, Weibo Xia, Xiaoping Xing
BACKGROUND: Pseudohypoparathyroidism (PHP) is caused by mutations and epimutations in the GNAS locus, and characterized by the possibility of resistance to multiple hormones and Albright's hereditary osteodystrophy. PHP can be classified into the forms 1A/C, sporadic 1B, and familial 1B. OBJECTIVES: To obtain an overall view of the clinical and genetic characteristics of the Chinese PHP patient population. METHODS: From 2000 to 2016, 120 patients were recruited and studied using Sanger sequencing, methylation-specific multiple ligation-dependent probe amplification (MS-MLPA), and combined bisulfiterestriction analysis (COBRA)...
November 14, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/29135488/endocrine-manifestations-of-down-syndrome
#12
Rachel Whooten, Jessica Schmitt, Alison Schwartz
PURPOSE OF REVIEW: To summarize the recent developments in endocrine disorders associated with Down syndrome. RECENT FINDINGS: Current research regarding bone health and Down syndrome continues to show an increased prevalence of low bone mass and highlights the importance of considering short stature when interpreting dual energy x-ray absorptiometry. The underlying cause of low bone density is an area of active research and will shape treatment and preventive measures...
November 11, 2017: Current Opinion in Endocrinology, Diabetes, and Obesity
https://www.readbyqxmd.com/read/29135076/a-heterozygous-mutation-in-rpgr-associated-with-x-linked-retinitis-pigmentosa-in-a-patient-with-turner-syndrome-mosaicism-45-x-46-xx
#13
Qi Zhou, Fengxia Yao, Feng Wang, Hui Li, Rui Chen, Ruifang Sui
Turner syndrome with retinitis pigmentosa (RP) is rare, with only three cases reported based on clinical examination alone. We summarized the 4-year follow-up and molecular findings in a 28-year-old patient with Turner syndrome and the typical features of short stature and neck webbing, who also had X-linked RP. Her main complaints were night blindness and progressive loss of vision since the age of 9 years. Ophthalmologic examination, optical coherent tomographic imaging, and visual electrophysiology tests showed classic manifestations of RP...
November 14, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29134781/clinical-and-molecular-genetic-characterization-of-a-male-patient-with-sensenbrenner-syndrome-cranioectodermal-dysplasia-and-biallelic-wdr35-mutations
#14
Joanna Walczak-Sztulpa, Anna Wawrocka, Anna Swiader-Lesniak, Magdalena Socha, Aleksander Jamsheer, Dorota Drozdz, Anna Latos-Bielenska, Katarzyna Zachwieja
BACKGROUND: Sensenbrenner syndrome (cranioectodermal dysplasia, CED) is a very rare autosomal recessive ciliopathy first described by Judith Sensenbrenner in 1975. CED is a complex disorder characterized by craniofacial, skeletal, and ectodermal abnormalities. The clinical symptoms are variable and the CED phenotype may present intrafamilial and interfamilial differences. Sensenbrenner syndrome belongs to a group of ciliary chondrodysplasias and is a genetically heterogeneous disease...
November 14, 2017: Birth defects research
https://www.readbyqxmd.com/read/29133208/homozygous-loss-of-function-brca1-variant-causing-a-fanconi-anemia-like-phenotype-a-clinical-report-and-review-of-previous-patients
#15
Bruna L Freire, Thais K Homma, Mariana F A Funari, Antônio M Lerario, Aline de Medeiros Leal, Elvira D Rodrigues Pereira Velloso, Alexsandra C Malaquias, Alexander A L Jorge
BACKGROUND: Fanconi Anemia (FA) is a rare and heterogeneous genetic syndrome. It is associated with short stature, bone marrow failure, high predisposition to cancer, microcephaly and congenital malformation. Many genes have been associated with FA. Previously, two adult patients with biallelic pathogenic variant in Breast Cancer 1 gene (BRCA1) had been identified in Fanconi Anemia-like condition. CLINICAL REPORT: The proband was a 2.5 year-old girl with severe short stature, microcephaly, neurodevelopmental delay, congenital heart disease and dysmorphic features...
November 10, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29130988/recurrent-copy-number-variants-associated-with-syndromic-short-stature-of-unknown-cause
#16
Thais K Homma, Ana C V Krepischi, Tatiane K Furuya, Rachel S Honjo, Alexsandra C Malaquias, Debora R Bertola, Silvia S Costa, Ana P Canton, Rosimeire A Roela, Bruna L Freire, Chong A Kim, Carla Rosenberg, Alexander A L Jorge
BACKGROUND/AIMS: Genetic imbalances are responsible for many cases of short stature of unknown etiology. This study aims to identify recurrent pathogenic copy number variants (CNVs) in patients with syndromic short stature of unknown cause. METHODS: We selected 229 children with short stature and dysmorphic features, developmental delay, and/or intellectual disability, but without a recognized syndrome. All patients were evaluated by chromosomal microarray (array-based comparative genomic hybridization/single nucleotide polymorphism array)...
November 9, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29130588/effects-of-astragalus-extract-mixture-ht042-on-height-growth-in-children-with-mild-short-stature-a-multicenter-randomized-controlled-trial
#17
Donghun Lee, Sun Haeng Lee, Jungbin Song, Hee-Jung Jee, Sung Ho Cha, Gyu Tae Chang
HT042 is a standardized functional food ingredient approved by Korean Food and Drug Administration with a claim 'HT042 can help height growth of children'. We aimed to evaluate the safety and efficacy of HT042 on height growth in children with mild short stature. A multicenter, randomized, double-blind, placebo-controlled parallel study was performed on children aged 6-8 years with height ranked below the 25th percentile. In 129 children, height gain was significantly higher in HT042 group than placebo group after 24 weeks (mean difference, 0...
November 12, 2017: Phytotherapy Research: PTR
https://www.readbyqxmd.com/read/29127766/etiologies-of-short-stature-in-a-pediatric-endocrine-clinic-in-southern-thailand
#18
Tansit Saengkaew, Edward McNeil, Somchit Jaruratanasirikul
BACKGROUND: Short stature is one of the common disorders referred for investigation of an endocrine disorder. The etiologies of short stature vary and are commonly grouped into pathological and non-pathological disorders. The objective of the study was to determine the etiologies and describe the characteristics of short stature patients who attended the Pediatric Endocrinology Clinic and to compare factors between normal variant short stature (NVSS) and growth hormone deficiency (GHD)...
November 11, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29127617/effects-of-growth-hormone-treatment-on-lipid-profiles
#19
Toshihide Kubo, Mahoko Furujo, Kyohei Takahashi, Yuki Hyodo, Hiroki Tsuchiya, Mariko Hattori, Shoko Fujinaga, Kenji Urayama
OBJECTIVES: To assess the effects of growth hormone (GH) on lipid profiles in children and whether the effect is pharmacological. METHODS: The authors determined serum levels of total cholesterol (TC), high-density lipoprotein cholesterol (HDL-C), non-high-density lipoprotein cholesterol (non-HDL-C), and low-density lipoprotein cholesterol (LDL-C) every year during 3-y GH treatment in 48 GH deficient (GHD) short children and 22 children with short stature born small for gestational age (SGA)...
November 11, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/29119823/maternal-depressive-symptoms-and-child-nutritional-status-a-cross-sectional-study-in-socially-disadvantaged-pakistani-community
#20
Qamar Saeed, Nadia Shah, Sumera Inam, Kashif Shafique
Malnutrition is a primary cause of child morbidity and mortality. The effects of maternal depressive symptoms on children's health, especially their nutritional status, have received less attention in developing countries but needs to be evaluated to understand the public health implications of maternal depression. The aim of the current study was to investigate the association between maternal depressive symptoms and children's nutritional status using data from low socioeconomic community in Pakistan. Maternal depressive symptoms defined as Aga Khan University Anxiety and Depression Scale score of 20 or greater was assessed for mothers with children under two years of age...
September 2017: Journal of Child Health Care: for Professionals Working with Children in the Hospital and Community
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