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Constitutional Short Stature

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101. Growth characteristics in children with congenital adrenal hyperplasia (PubMed)

Hospital in Jeddah, Saudi Arabia, between January  2012 and January 2017.A total of 90 subjects, of which 67.8% were females and 32.2% were males. Subjects who were underweight  constituted 19.1% of the population, while those who were obese were estimated up to 17.6% of the population. Of the children, 25.7% were suffering from short stature and 74.3% had normal height. Approximately 11.8% of the children who suffered from short stature also suffered from hypothyroidism. Mid-parental height of those (...) who suffered from short stature is 159.8 cm.This study showed a significant effect of congenital adrenal hyperplasia on both height, weight, and body mass index. Risk factors includes glucocorticoids dosage, compliance to treatment, and regular follow up. Personalized treatment approach should be followed with all patients diagnosed with congenital adrenal hyperplasia as well as close monitoring and targeted therapy.

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2018 Saudi medical journal

102. Efficacy and Safety of rhGH (Jintropin®) in Pediatric Participants With ISS

Information provided by (Responsible Party): GeneScience Pharmaceuticals Co., Ltd. Study Details Study Description Go to Brief Summary: Phase 1: To evaluate the safety and efficacy of 0.05mg/kg/d of rhGH (Jintropin®) in the treatment of children with idiopathic short stature (ISS) in 52 weeks. Phase 2: To evaluate the safety and efficacy of rhGH (Jintropin®) in the treatment of children with ISS in 2 years Condition or disease Intervention/treatment Phase Dwarfism Other: Negative control Phase 3 Study (...) Design Go to Layout table for study information Study Type : Interventional (Clinical Trial) Estimated Enrollment : 480 participants Allocation: Randomized Intervention Model: Parallel Assignment Masking: None (Open Label) Primary Purpose: Treatment Official Title: Phase 2 Study of Efficacy and Safety of rhGH (Jintropin®) in Pediatric Participants With ISS (Idiopathic Short Stature): a 52-week Multicenter, Open-label, Randomized, Negative Controlled Study Followed by a 52-week Open-label Period

2018 Clinical Trials

103. Growth hormone treatment of Canadian children: results from the GeNeSIS phase IV prospective observational study (PubMed)

and Neuroendocrinology of Short-stature International Study (GeNeSIS). The diagnosis associated with short stature was as determined by the investigator. Auxological data were evaluated yearly until near-adult height. Adverse events were assessed in all growth-hormone-treated patients.The diagnosis ascribed as the cause of short stature was growth hormone deficiency in 526 children (61.9%), predominantly organic rather than idiopathic, particularly congenital pituitary abnormalities and intracranial tumours. All (...) diagnostic groups with sufficient patients for analysis had increased height velocity standard deviation score (SDS) and height SDS during growth hormone treatment. For patients who reached near-adult height (n = 293), the mean height SDS was within the normal range for about 80% of patients with organic growth hormone deficiency (n = 131) or idiopathic growth hormone deficiency (n = 50), 50% of patients with idiopathic short stature (n = 10) and 46% of patients with Turner syndrome (n = 79). Eleven

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2018 CMAJ open

104. De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder. (PubMed)

variants in FBXO11. They present with mild to severe developmental delay associated with a range of features including short (4/20) or tall (2/20) stature, obesity (5/20), microcephaly (4/19) or macrocephaly (2/19), behavioral problems (17/20), seizures (5/20), cleft lip or palate or bifid uvula (3/20), and minor skeletal anomalies. FBXO11 encodes a member of the F-Box protein family, constituting a subunit of an E3-ubiquitin ligase complex. This complex is involved in ubiquitination and proteasomal

2018 American Journal of Human Genetics

105. Characterization of an Activating R1353H Insulin-like Growth Factor 1 Receptor Variant in a Male with Extreme Tall Height. (PubMed)

Characterization of an Activating R1353H Insulin-like Growth Factor 1 Receptor Variant in a Male with Extreme Tall Height. The insulin-like growth factor1 receptor (IGF1R) is important in growth and development, and inactivating IGF1R mutations cause short stature and relatively high levels of serum IGF-I. We identified an unclassified IGF1RR1353H variant in a male with extreme tall height, very low levels of serum IGF-I and delayed and prolonged growth spurt. The index case's mother and three (...) sons all carried the variant, but so far only the eldest son (age 18 years) presented with tall height. We hypothesized that the variant could constitute an activating mutation.The IGF1RR1353H variant was investigated in Igf1r-/- mouse embryonic fibroblasts (R-cells) by cell cycle, colony formation and transcriptome analyses.The IGF1RR1353H (R-1353) exhibited significantly increased cell proliferation, G1-S progression and colony formation in soft agar. RNA sequencing identified 195 differentially

2018 European Journal of Endocrinology

106. Childhood Cancer Genomics (PDQ®): Health Professional Version

alterations in RAS and PTEN. The French Acute Lymphoblastic Leukaemia Study Group (FRALLE) and the Group for Research on Adult Acute Lymphoblastic Leukemia groups reported that patients having mutated NOTCH1 / FBXW7 and wild-type PTEN / RAS constituted a favorable-risk group while patients with PTEN or RAS mutations, regardless of NOTCH1/FBXW7 status, have a significantly higher risk of treatment failure.[ , ] In the FRALLE study, 5-year cumulative incidence of relapse and disease-free survival (DFS) were

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2016 PDQ - NCI's Comprehensive Cancer Database

107. Genetics of Skin Cancer (PDQ®): Health Professional Version

of vertebral bodies), modeling defects of the hands and feet, or flame-shaped lucencies of hands and feet Bridging of sella turcica, vertebral abnormalities (hemivertebrae, fusion or elongation of vertebral bodies), modeling defects of the hands and feet Skeletal malformations (vertebral, short 4th metacarpals, postaxial polydactyly) (Rib abnormalities listed as major criterion; see above.) (Rib abnormalities listed as major criterion; see above.) Rib abnormalities Cardiac or ovarian fibroma Ovarian

2016 PDQ - NCI's Comprehensive Cancer Database

108. Genetics of Breast and Ovarian Cancer (PDQ®): Health Professional Version

in the and sections of this summary for more information.) Oral contraceptives Oral contraceptives (OCs) may produce a slight increase in breast cancer risk among long-term users, but this appears to be a short-term effect. In a meta-analysis of data from 54 studies, the risk of breast cancer associated with OC use did not vary in relationship to a family history of breast cancer.[ ] OCs are sometimes recommended for ovarian cancer prevention in carriers of BRCA1 and BRCA2 pathogenic variants. (Refer (...) tested for BRCA1/BRCA2 pathogenic variants.[ ] Short-term use of hormones for treatment of menopausal symptoms appears to confer little or no breast cancer risk.[ , ] The effect of HRT on breast cancer risk among carriers of BRCA1 or BRCA2 pathogenic variants has been studied in the context of bilateral risk-reducing oophorectomy, in which short-term replacement does not appear to reduce the protective effect of oophorectomy on breast cancer risk.[ ] (Refer to the section of this summary for more

2016 PDQ - NCI's Comprehensive Cancer Database

109. Late Effects of Treatment for Childhood Cancer (PDQ®): Health Professional Version

the following:[ , , ] A short latency (<10 years from primary cancer diagnosis). The risk of t-MDS/AML plateaus after 10 to 15 years. Although the risk of subsequent leukemia remains significantly elevated beyond 15 years from primary diagnosis (standardized incidence ratio [SIR], 3.5; 95% CI, 1.9–6.0), these events are relatively rare, with an absolute excess risk of 0.02 cases per 1,000 person-years.[ ] An association with alkylating agents and/or topoisomerase II inhibitors. t-MDS/AML is a clonal

2016 PDQ - NCI's Comprehensive Cancer Database

111. Wilms Tumor and Other Childhood Kidney Tumors Treatment (PDQ®): Health Professional Version

microdeletion syndrome. 9q22.3 microdeletion syndrome is characterized by craniofacial abnormalities, metopic craniosynostosis, hydrocephalus, macrosomia, and learning disabilities. Three patients presented with Wilms tumor in addition to a constitutional 9q22.3 microdeletion and dysmorphic/overgrowth syndrome. Although the size of the deletions was variable, all encompassed the PTCH1 gene.[ ] Bloom syndrome. Bloom syndrome is characterized by short stature and being thinner than other family members, sun (...) in genitourinary abnormalities or retardation (i.e., not obviously WAGR syndrome). Therefore, many patients with sporadic aniridia develop Wilms tumor and are candidates for screening. The relative risk of Wilms tumor in sporadic aniridia is 67-fold.[ ] About half of individuals with sporadic aniridia and PAX6 and WT1 deletions develop Wilms tumor.[ ] Constitutional 11p15 abnormalities. Constitutional 11p15 abnormalities have been identified in 13 of 437 individuals (3%) with sporadic Wilms tumor without

2016 PDQ - NCI's Comprehensive Cancer Database

112. Patient Modesty: Volume 82

. The latter will almost certainly not be found and, according to the UCSF study, wouldn't warrant treatment in those cases where it would most likely be found. It's detection would not have value. bTW, please tell me if you know why the AAD materials, which constitute a "how to" manual, omitted checking the patient's nostrils? REL At , said... REL, the nasal grooves (alar) is noted in the text but not specifically described in the video exam. The nasal and buccal (mouth) mucosa are not skin (...) observers. The provider is male. Thanks. RG At , said... RG, as a physician who teaches first year medical students how to perform a complete neurological examination, I can tell you that wearing shorts is the degree of undress needed as long as the area of discomfort can be visualized and directly touched (palpated). Now in the event that your sensory symptoms are located in the upper and more lateral thigh, your physician should consider the possibility of meralgia paresthetica in which yjranterior

2017 Bioethics Discussion Blog

113. Pseudoautosomal abnormalities in terminal AZFb+c deletions are associated with isochromosomes Yp and may lead to abnormal growth and neuropsychiatric function. (PubMed)

isochromosomes and/or cells 45,X that lead to pseudoautosomal gene CNVs, which were associated with abnormal stature and/or neuropsychiatric disorders.The microdeletions in the long arm of the Y chromosome (Yq) that include the loss of one to three AZF regions, referred to as Yq microdeletions, constitute the most important known etiological factor for primary spermatogenic failure. Recently, controversy has arisen about whether Yq microdeletions are associated with gain or loss of PAR genes, which (...) reduction for SRY and DDX3Y, as shown by qPCR, associated with a high proportion of 45,X cells, as determined by FISH and karyotype. In agreement with the karyotype analysis, we detected DYZ3++ and DYZ3+ cells by FISH in the six patients, confirming idic(Y) and revealing additional monocentric Y chromosome [i(Y)]. Five patients had a history of major depressive disorders or bipolar disorder, and three had language impairment, whereas two patients showed severe short stature (Z score: -2.75 and -2.62

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2017 Human Reproduction

114. Height inequalities and their change trends in China during 1985-2010: results from 6 cross-sectional surveys on children and adolescents aged 7-18 years. (PubMed)

and adolescents aged 7-18 years. The urban-rural difference averagely decreased from 4.24 cm to 2.85 cm for boys and 3.72 cm to 1.31 cm for girls since 1985. Urban-rural difference tend to be more obvious in the poorer provinces, which has short mean statures. From 1985 to 2010, height difference became larger in eastern-western and Shanghai-Guizhou which represented the comparison between the richest and poorest regions. We also found there was a larger height inequality in rural areas compared (...) 1985-2010.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. Coefficients of Variation (CVs) of height were computed in urban and rural areas during 1985-2010.Great height difference existed between urban and rural, eastern and western, Shanghai and Guizhou children

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2017 BMC Public Health

115. The Impact of Early Life Stress on Growth and Cardiovascular Risk: A Possible Example for Autonomic Imprinting? (PubMed)

to the healthy control group heart rate variability (HRV) is reduced on average in a group of 101 children with short stature. Low HRV correlates to groups of children born small for gestational age (SGA), children with cardiac growth failure and children with congenital syndromes, but not to those with constitutional growth delay (CGD), who had normal HRV. Reduced HRV indicated by lower RMSSD and High Frequency (HF)-Power is indicating reduced vagal activity as a sign of autonomic imbalance.It is not short (...) stature itself, but rather the underlying diseases that are the cause for reduced HRV in children with height below the third percentile. These high risk children-allocated in the groups with an adverse autonomic imprinting in utero or infancy (SGA, congenital heart disease and congenital syndromes)-have the highest risk for 'stress diseases' such as cardiovascular disease in later life. The incidence of attention deficit disorder is remarkably high in our group of short children.

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2016 PLoS ONE

116. Adrenal Function in GHD Children

of Medicine related topics: related topics: available for: resources: Groups and Cohorts Go to Group/Cohort Intervention/treatment GHD children about 30 prepubertal children affected by overt idiopathic GHD Drug: growth hormone Children with a diagnosis of GHD will practice GH replacement therapy in line with normal clinical practice and international guidelines. Controls will be evaluated just at baseline. controls about 30 prepubertal children with constitutional short stature without endocrine disease (...) to 12 Years (Child) Sexes Eligible for Study: All Accepts Healthy Volunteers: Yes Sampling Method: Non-Probability Sample Study Population 30 consecutive children with short stature and overt idiopathic GHD and 30 children with constitutional short stature without endocrine disease Criteria Inclusion Criteria: prepubertal children with overt idiopathic growth hormone deficiency Exclusion Criteria: Children with organic growth hormone deficiency or under treatment with glucocorticoids Contacts

2017 Clinical Trials

117. X-linked Hypophosphatemic Rickets, del(2)(q37.1;q37.3) Deletion Syndrome and Mosaic Turner Syndrome, mos 45,X/46,X, del(2)(q37.1;q37.3) in a 3-year-old Female (PubMed)

of both karyotype and microarray. Both chromosome anomalies have been associated with short stature and a variety of skeletal abnormalities however to date no reports have associated these syndromes in association with a phosphate regulating endopeptidase homolog, X-linked (PHEX) gene deletion resulting in XLH. We report a 3-year-old female with 3 concurrent genetic disorders including a 9.98 Mb terminal deletion of chromosome 2: del(2)(q37.1;q37.3), XLH secondary to a small microdeletion of part (...) of the PHEX gene, and mosaic TS (mos 45,X[32]/46,X[18]). This is the first case report of a patient with 2q37 deletion syndrome and mosaic TS (mos 45,X[32]/46,X[18]) found to have XLH secondary to an interstitial constitutional PHEX gene deletion. Her severe phenotype and multiple genotypic findings reinforce the importance of thorough genetic testing in the setting of complicated phenotypic presentations.

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2017 Journal of bone metabolism

118. A Study of PEG-somatropin Injection to Treat Children of Turner Syndrome

stenosis, bicuspid aortic valve and hypertension), reproductive abnormalities (such as primary gonadal dysfunction), renal abnormalities, thyroid hypofunction, middle ear lesion, etc. Short stature: height below -2.5SD of the mean height of the same age and gender. Pre-pubertal (Tanner Stage I ) patients No history of growth hormone treatment The subject and his/her guardian sign the informed consent (if the subject is incapable to sign the informed consent, his/her legal guardian shall sign the name (...) , XXq-; 45X / 46, XXq-; 45, X / 46, XX / 47, XXX, etc. (count 50 or more cells); Facial appearance and abnormalities: Patients with at least one of the following signs, which include but are not limited to facial pigmented nevus, short neck, webbed neck, low posterior hairline, low-set ears, micrognathia, high-voulted arch, shield-like chest, cubitus valgus, genu valgum, short 4th and 5th metacarpals, nail dysplasia, scoliosis, ptosis and strabismus, cardiovascular abnormalities (such as aortic

2017 Clinical Trials

119. Poplar stem transcriptome is massively remodelled in response to single or repeated mechanical stimuli (PubMed)

Poplar stem transcriptome is massively remodelled in response to single or repeated mechanical stimuli Trees experience mechanical stimuli -like wind- that trigger thigmomorphogenetic syndrome, leading to modifications of plant growth and wood quality. This syndrome affects tree productivity but is also believed to improve tree acclimation to chronic wind. Wind is particularly challenging for trees, because of their stature and perenniality. Climate change forecasts are predicting (...) responsiveness to transitory and recurring controlled stem bending, mimicking wind. The study revealed that 6% of the poplar genome is differentially expressed after a single transient bending. The combination of clustering, Gene Ontology categorization and time-series expression approaches revealed the diversity of gene expression patterns and biological processes affected by stem bending. Short-term transcriptomic responses entailed a rapid stimulation of plant defence and abiotic stress signalling

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2017 BMC genomics

120. First Report of Two Rare Entities in a Family: 49,XXXXY and 45,X (PubMed)

First Report of Two Rare Entities in a Family: 49,XXXXY and 45,X 49,XXXXY and 45,X syndromes are sex chromosome aneuploidies in which the affected individuals present with hypergonadotropic hypogonadism, short or long stature, and skeletal malformations. Psychological, endocrinological, and orthopaedic disorders constitute the major problems in the clinical follow-up. We report a family with two rare entities: 49,XXXXY and 45, X. Sex chromosome abnormalities should especially be in mind

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2017 Journal of pediatric genetics

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