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https://www.readbyqxmd.com/read/28527289/-characterization-of-patients-with-skeletal-genetic-diseases-in-a-colombian-referral-center
#1
Harvy Mauricio Velasco, Lina Patricia Buelvas
INTRODUCTION: Short height in Colombia has an estimated prevalence of 10%. The 2009 Nosology and Classification of Skeletal Genetic Diseases described 456 clinical conditions using biochemical, molecular and radiological criteria for diagnosis. OBJECTIVE: To analyze demographic, epidemiological and clinical variables in a group of patients with skeletal genetic diseases referred to the Instituto de Ortopedia Infantil Roosevelt. MATERIALS AND METHODS: Patients referred between 2008 and 2014 were analyzed filtering 167 diagnoses of the International Classification of Diseases, 10th revision (ICD 10), related to skeletal genetic diseases...
June 1, 2017: Biomédica: Revista del Instituto Nacional de Salud
https://www.readbyqxmd.com/read/28525404/growth-hormone-treatment-for-growth-hormone-deficiency-and-idiopathic-short-stature-new-guidelines-shaped-by-the-presence-and-absence-of-evidence
#2
Adda Grimberg, David B Allen
PURPOSE OF REVIEW: The Pediatric Endocrine Society recently published new guidelines for the use of human growth hormone (hGH) and human insulin-like growth factor-I (hIGF-I) treatment for growth hormone deficiency, idiopathic short stature, and primary IGF-I deficiency in children and adolescents. This review places the new guidelines in historical contexts of the life cycle of hGH and the evolution of US health care, and highlights their future implications. RECENT FINDINGS: The new hGH guidelines, the first to be created by the Grading of Recommendations Assessment, Development and Evaluation approach, are more conservative than their predecessors...
May 18, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28525353/molecular-genetics-of-growth-hormone-deficient-children-correlation-with-auxology-and-response-to-first-year-of-growth-hormone-therapy
#3
Vaman Khadilkar, Nikhil Phadke, Kavita Khatod, Veena Ekbote, Supriya Phanse Gupte, Ruchi Nadar, Anuradha Khadilkar
BACKGROUND: With the paucity of available literature correlating genetic mutation and response to treatment, we aimed to study the genetic makeup of children with growth hormone (GH) deficiency in Western India and correlate the mutation with auxology and response to GH treatment at end of 1 year. METHODS: Fifty-three (31 boys and 22 girls) children with severe short stature (height for age z-score <-3) and failed GH stimulation test were studied. Those having concomitant thyroid hormone or cortisol deficiencies were appropriately replaced prior to starting GH treatment...
May 18, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28523647/computational-investigation-of-growth-hormone-receptor-trp169arg-heterozygous-mutation-in-a-child-with-short-stature
#4
William Farias Porto, Felipe Albuquerque Marques, Huri Brito Pogue, Maria Teresinha de Oliveira Cardoso, Maria Gabriela Rodrigues do Vale, Állan da Silva Pires, Octavio Luiz Franco, Sérgio Amorim de Alencar, Robert Pogue
Mutations in the growth hormone receptor (GHR) gene can cause disruption of the growth hormone signaling pathway, resulting in growth deficiency due to growth hormone (GH) resistance. Both recessive and apparently dominant mutations have been described in the literature. In order to shed some light on the molecular mechanism of partial growth hormone resistance caused by heterozygous mutations we performed an in-depth in silico analysis of a mutation found in a girl with a previous diagnosis of idiopathic short stature...
May 18, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28521793/height-inequalities-and-their-change-trends-in-china-during-1985-2010-results-from-6-cross-sectional-surveys-on-children-and-adolescents-aged-7-18%C3%A2-years
#5
Yong Xu, Lei Hang
BACKGROUND: Great health inequalities have been reported in China over the past few years. Height has been used as an important parameter of health and it may also be distributed unequally in different regions. By studying height data of Chinese children and adolescents aged 7 to 18 years, we analyze height inequalities and their change trends during 1985-2010. METHODS: On the base of data from 6 successive cross-sectional surveys of the Chinese National Survey on Student's Constitution and Health(CNSSCH) conducted in 1985,1991,1995,2000,2005 and 2010, we calculated difference of height for children and adolescents aged 7-18 years in different regions...
May 18, 2017: BMC Public Health
https://www.readbyqxmd.com/read/28516750/quality-of-life-of-sga-children-with-short-stature-receiving-gh-treatment-in-japan
#6
Ryo Takahashi, Madoka Ogawa, Hisao Osada
The objective of this study was to compare the quality of life (QOL) of small for gestational age (SGA) children with short stature with that of children with normal height, and examine the effects of growth hormone (GH) treatment on the QOL of the SGA children using questionnaires administered to their parents or guardians. The results showed that QOL in daily living of SGA children with short stature was lower than that of normal children based on the perceptions of their parents or guardians. In addition, GH treatment improved the physical domain of QOL of SGA children with short stature...
March 2017: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/28516749/international-comparison-of-adult-height-in-children-with-growth-hormone-deficiency-and-limitations-of-growth-hormone-treatment-in-japan
#7
Toshiaki Tanaka
The approved therapeutic dose of growth hormone (GH) for growth hormone deficiency (GHD) varies depending on the country. Japan has the lowest therapeutic dose globally, with a single dose of 0.175 mg/kg/week. GH treatment for GHD is considered as a replacement therapy and in fact, a dose of 0.175 mg/kg/week is slightly higher than GH secretion in prepubertal healthy children but nearly the same as that of pubertal children. Although the same growth rate as that of healthy children is expected in response to replacement therapy, the catch-up growth observed for the first 1 to 2 years of GH treatment was misinterpreted as an effect of the GH replacement therapy...
March 2017: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/28515105/free-circulating-methylated-dna-in-blood-for-diagnosis-staging-prognosis-and-monitoring-of-head-and-neck-squamous-cell-carcinoma-patients-an-observational-prospective-cohort-study
#8
Andreas Schröck, Annette Leisse, Luka de Vos, Heidrun Gevensleben, Freya Dröge, Alina Franzen, Malin Wachendörfer, Friederike Schröck, Joerg Ellinger, Marcus Teschke, Timo Wilhelm-Buchstab, Jennifer Landsberg, Stefan Holdenrieder, Gunther Hartmann, John K Field, Friedrich Bootz, Glen Kristiansen, Dimo Dietrich
BACKGROUND: Circulating cell-free DNA methylation testing in blood has recently received regulatory approval for screening of colorectal cancer. Its application in other clinical settings, including staging, prognosis, prediction, and recurrence monitoring is highly promising, and of particular interest in head and neck squamous cell carcinomas (HNSCC) that represent a heterogeneous group of cancers with unsatisfactory treatment guidelines. METHODS: Short stature homeobox 2 (SHOX2) and septin 9 (SEPT9) DNA methylation in plasma from 649 prospectively enrolled patients (training study: 284 HNSCC/122 control patients; testing study: 141 HNSCC/102 control patients) was quantified before treatment and longitudinally during surveillance...
May 17, 2017: Clinical Chemistry
https://www.readbyqxmd.com/read/28515031/phenotypic-variability-in-a-family-with-acrodysostosis-type-2-caused-by-a-novel-pde4d-mutation-affecting-the-serine-target-of-pka-phosphorylation
#9
Julia Hoppmann, Julia Gesing, Caroline Silve, Chrystel Leroy, Astrid Bertsche, Franz Wolfgang Hirsch, Wieland Kiess, Roland Pfäffle, Volker Schuster
BACKGROUND: Acrodysostosis is a very rare congenital multisystem condition characterized by skeletal dysplasia with severe brachydactyly, midfacial hypoplasia, and short stature, varying degrees of intellectual disability, and possible resistance to multiple G protein-coupled receptor signalling hormones. Two distinct subtypes are differentiated: acrodysostosis type 1 resulting from defects in PRKAR1A and acrodysostosis type 2 caused by mutations in PDE4D. Most cases are sporadic. OBJECTIVE: We report on a rare multigenerational familial case of acrodysostosis type 2 due to a novel autosomal dominantly inherited PDE4D mutation...
May 17, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28514243/celiac-disease-symptom-resolution-effectiveness-of-the-gluten-free-diet
#10
Naire Sansotta, Stefano Guandalini, Karine Amirikian, Hilary Jericho
OBJECTIVE: To evaluate the efficacy of the gluten free diet (GFD) on gastrointestinal and extra-intestinal symptom resolution and identify predictors for persistence of symptoms in all celiac patients at the University of Chicago. METHODS: We conducted a retrospective chart review from 2002 to 2015. Gastrointestinal (GI) symptoms included: abdominal pain, bloating, constipation, diarrhea, failure to thrive/weight loss, nausea, reflux and vomiting. Extra-intestinal (EI) symptoms included: abnormal liver enzymes, arthralgia/arthritis, dermatitis herpetiformis, alopecia, fatigue, headache, anemia, stomatitis, myalgia, psychiatric disorders, rashes, seizures, neuropathy, short stature, delayed puberty, osteoporosis, and infertility...
May 16, 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28513259/short-stature-is-associated-with-overweight-but-not-with-high-energy-intake-in-low-income-quilombola-women
#11
Haroldo da Silva Ferreira, Andreza A Luna, Telma Maria M T Florêncio, Monica L Assunção, Bernardo L Horta
BACKGROUND: Population exposed to chronic undernutrition in early life seems to be more susceptible to obesity in adulthood due to the development of mechanisms that improve the efficiency of energy use. Therefore, these individuals have relatively reduced energy requirements (thrifty phenotype). OBJECTIVE: To investigate, among women living on severe socioeconomic vulnerability, whether short stature, a marker for undernutrition in early life, is associated with excess body weight but not with a high energy intake...
June 2017: Food and Nutrition Bulletin
https://www.readbyqxmd.com/read/28513071/juvenile-idiopathic-arthritis-in-multiplex-families-longitudinal-follow-up
#12
Munira Al Marri, Alya Qari, Sulaiman M Al-Mayouf
OBJECTIVE: To describe the physical, social, educational and employment status and clinical outcomes of patients with juvenile idiopathic arthritis (JIA) from multiplex families. METHODS: All familial JIA patients were treated and had regular follow-up between 1990 and 2015 at King Faisal Specialist Hospital and Research Center (KFSH-RC), Riyadh, were included. Demographic data, disease duration, active arthritis and articular and extra-articular damage at last follow-up visit were reviewed...
May 16, 2017: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/28511523/achondroplasia-with-polydactyly-a-case-report
#13
Caroline Frank, Sameeya Shariff, Muddepalle Pavani, Balasubramanian Karthika, Sridhar Thathekalva
An eight-year-old girl child reported to the Department of Oral Medicine and Radiology with the chief complaint of unerupted permanent teeth for past two years. The child presented features like disproportionately short stature, rhizomelic shortening of arms and legs, long face, frontal bossing and saddle nose. Based on the findings of chest and spine radiographs and ultrasound the case was diagnosed as a rare bone disorder "Achondroplasia". This case also presents a unique feature of polydactyly. Polydactyly is a manifestation in clinical medicine because it can serve as an indicator for a plethora of congenital anamolies...
March 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28509131/growth-hormone-therapy-for-a-patient-with-idiopathic-fanconi-syndrome-and-growth-hormone-deficiency
#14
Takayuki Okamoto, Yasuyuki Sato, Takeshi Yamazaki, Asako Hayashi, Toshiyuki Takahashi
Idiopathic Fanconi syndrome (FS) is characterized by a generalized dysfunction of the renal proximal tubules. Patients with FS often exhibit growth retardation due to complex factors, such as hypophosphatemia, metabolic acidosis, disturbed vitamin D metabolism and hypokalemia. To date, one FS patient has been reported to exhibit growth failure due to growth hormone deficiency (GHD), but the long-term clinical course of recombinant human GH (rhGH) therapy has not been reported. At 10 months of age, the patient was admitted to our hospital due to growth failure...
February 9, 2017: CEN Case Reports
https://www.readbyqxmd.com/read/28506340/-endocrine-and-metabolic-features-of-female-children-with-prader-willi-syndrome-an-analysis-of-4-cases
#15
Mo-Ling Wu, Juan Li, Yu Ding, Yao Chen, Guo-Ying Chang, Xiu-Min Wang, Jian Wang, Yi-Ping Shen
This article reports the clinical features and endocrine and metabolic features of 4 children with Prader-Willi syndrome (PWS). All the patients were female and aged 6-12 years at diagnosis. All of them had clinical manifestations of obesity, unusual facies, developmental retardation, and intellectual disability. Genetic detection showed that 2 patients had paternal deletion of the 15q11.2-q13 region, one patient had maternal autodiploid in the 15q11.2-q13 region, and one patient had no abnormality in the 15q11...
May 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28504504/-cornelia-de-lange-syndrome-and-multiple-hormonal-deficiency-an-unusual-association-clinical-case
#16
Víctor M Mora-Bautista, Víctor Mendoza-Rojas, Gustavo A Contreras-García
Cornelia de Lange syndrome is a genetic disease characterized by distinctive facial features, failure to thrive, microcephaly and several malformations associated. Its main endocrinological features are anomalies of the genitalia. We present a 13-year-old boy, who suffered from complicated aspiration pneumonia and showed Cornelia de Lange syndrome phenotype, with global developmental delay, suction-swallowing abnormalities, short stature and abnormal genitalia associated. His bone age was delayed, so he underwent full endocrinological panel...
June 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28502327/fanconi-anemia-and-laron-syndrome
#17
Inma Castilla-Cortazar, Julieta Rodriguez de Ita, Gabriel Amador Aguirre, Fabiola Castorena-Torres, Jesús Ortiz-Urbina, Mariano García-Magariño, Rocío García de la Garza, Carlos Diaz Olachea, Martha Irma Elizondo Leal
BACKGROUND: Fanconi anemia (FA) is a condition characterized by genetic instability and short stature, which is due to growth hormone (GH) deficiency in most cases. However, no apparent relationships have been identified between FA complementation group genes and GH. In this study, we thereby considered an association between FA and Laron syndrome (LS) (insulin-like growth factor 1 [IGF-1] deficiency). METHODS: A 21-year-old female Mexican patient with a genetic diagnosis of FA was referred to our research department for an evaluation of her short stature...
May 2017: American Journal of the Medical Sciences
https://www.readbyqxmd.com/read/28498391/hypospadias-in-a-male-infant-with-an-unusual-mosaic-45-x-46-x-psu-idic-y-p11-32-46-xy-and-haploinsufficiency-of-shox-a-case-report
#18
Yan-Mei Si, Yuan Dong, Wei Wang, Ke-Yan Qi, Xin Wang
A male newborn presented with hypospadias and differential testicular volumes. Short femur length was detected four times during pregnancy, at 23, 31, 32 and 33 weeks, by ultrasonographic examination. Chromosome analysis was performed on peripheral lymphocytes obtained from the infant and his parents. Fluorescent in situ hybridization (FISH), using sex determining region Y (SRY)/DXZ1 and DYZ3 probes, was performed to verify the deletion of the SRY gene (located on Yp11.3 region) and the activation of Y chromosomal centromeres...
May 10, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28495326/bone-dysplasia
#19
Agnès Linglart, Valérie Merzoug, Anne-Sophie Lambert, Catherine Adamsbaum
Bone dysplasia is a large group that encompasses 436 rare diseases. Many of them are characterized by short stature or decreased growth velocity during puberty. The diagnosis of short stature due to skeletal dysplasia relies on (i) physical features such as disproportionate trunk/limbs, short limbs or extremities and/or stocky build, (ii) radiographic features to analyze mineralization, maturation and bone morphology, and (iii) whenever possible, the genetic characterization. Bone dysplasia mostly affect many organs, and therefore require multidisciplinary follow-up and care...
May 8, 2017: Annales D'endocrinologie
https://www.readbyqxmd.com/read/28488351/homozygous-microdeletion-of-the-eri1-and-mfhas1-genes-in-a-patient-with-intellectual-disability-limb-abnormalities-and-cardiac-malformation
#20
Nancy Choucair, Mariam Rajab, André Mégarbané, Eliane Chouery
A male child, born from consanguineous parents and having intellectual disability, short stature, dysmorphic facial features, synpolydactyly, and cardiac malformations is reported. Chromosomal microarray analysis showed that the patient presents with an 8p23.1 homozygous deletion, containing the microRNA miR-4660, the exoribonuclease 1 (ERI1), and malignant fibrous histiocytoma amplified sequence 1 (MFHAS1) genes. The microRNA miR-4660 has no known function. MFHAS1 is an immunomodulatory protein involved in Toll-like receptor signaling, erythropoiesis, and cancer...
May 9, 2017: American Journal of Medical Genetics. Part A
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