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Constitutional Short Stature

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101. Characterization of an Activating R1353H Insulin-like Growth Factor 1 Receptor Variant in a Male with Extreme Tall Height. Full Text available with Trip Pro

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

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. Delayed puberty versus hypogonadism: a challenge for the pediatrician Full Text available with Trip Pro

Delayed puberty versus hypogonadism: a challenge for the pediatrician Constitutional delay of growth and puberty (CDGP) is the most common cause of delayed puberty (DP), is mainly found in males, and is characterized by short stature and delayed skeletal maturation. A family history of the subject comprising the timing of puberty in the parents and physical examination may provide clues regarding the cause of DP. Delayed onset of puberty is rarely considered a disease in either sex. In fact, DP

2018 Annals of pediatric endocrinology & metabolism

104. A de novo KMT2D mutation in a girl with Kabuki syndrome associated with endocrine symptoms: a case report. Full Text available with Trip Pro

by a heterozygous mutation in the KMT2D or KDM6A genes.An 11-year-old girl with the typical facial features of Kabuki syndrome visited our hospital due to her short stature. She was found to have the de novo heterozygous mutation of c.8200C > T, p(Arg2734*) in exon 32 of the KMT2D gene and was diagnosed with Kabuki syndrome. The patient also exhibited endocrine abnormalities such as a constitutional delay of puberty, transiently congenial hypothyroidism, obesity and growth hormone deficiency.This is a case (...) of a mutation in the KMT2D gene in a girl with Kabuki syndrome who presented with endocrine symptoms (constitutional delay of puberty, hypothyroidism, obesity and growth hormone deficiency).

2018 BMC Medical Genetics

105. Growth hormone treatment of Canadian children: results from the GeNeSIS phase IV prospective observational study Full Text available with Trip Pro

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

2018 CMAJ open

108. Guidelines for the Prevention of Stroke in Women: A Statement for Healthcare Professionals From the American Heart Association/American Stroke Association Full Text available with Trip Pro

certificate data from 1995 to 1998 found that IS constitutes a larger percentage of stroke mortality overall in women than men (82% of stroke deaths in women versus 78% in men), with the greatest difference seen for older women. The overall age-adjusted IS death rate in women is slightly lower (74.3 per 100 000 compared with 78.8 per 100 000 for men; RR, 0.94; 95% confidence interval [CI], 0.93–0.95). Younger women have lower age-specific IS mortality than men, but there is a crossover at ≈65 years of age (...) differences in short-term case-fatality rates (commonly defined as within 30 days of onset and inclusive of all strokes) have been quite variable and are complicated by a lack of age adjustment. Some studies have reported that women have higher case fatality than men, , , , , whereas others have not. , , , Although a recent systematic review found that short-term case fatality was higher in women than men in 26 of 31 studies (with a pooled rate of 24.7% versus 19.7%), these results were based on crude

2014 American Heart Association

109. Management of Obesity and Overweight

and disease risk varies among individuals and among different populations. For example, individuals who are short in stature or who have a relatively high muscular mass may fall into the overweight category by BMI but may not have increased adipose tissue and thus may not be at increased risk of obesity- associated conditions. Therefore, this classification must be viewed as generally corresponding to disease risk but with some exceptions. Table 1: Classification of Overweight and Obesity by BMI (...) . Adherence to any particular calorie-deficit diet is more important than choice of a specific diet. Physical activity, through short bursts of activity or a single longer episode, typically must accumulate to at least 150 minutes per week. On average, weight loss will occur at the rate of 0.5 to 2 pounds per week, plateauing between three and six months. After a plateau is reached, reassessment for weight maintenance or additional weight loss is required. A shared decision-making model should be employed

2014 VA/DoD Clinical Practice Guidelines

110. Guidelines for the Prevention of Stroke in Women

men and women, with some acceleration in the rate of decline in the 1990s for cer- tain age-sex groups. 66 Ischemic Stroke An analysis of US death certificate data from 1995 to 1998 found that IS constitutes a larger percentage of stroke mor- tality overall in women than men (82% of stroke deaths in women versus 78% in men), with the greatest difference seen for older women. 67 The overall age-adjusted IS death rate in women is slightly lower (74.3 per 100 000 compared with 78.8 per 100 000

2014 Congress of Neurological Surgeons

111. Alcohol impacts health: A rapid Review of the Evidence

, with daily and weekly alcohol consumption limits to reduce short- and long-term health risks. Different limits are provided for men and women. The new Canadian LRDG allow a higher limit of standard drinks per week than the Ontario Low-Risk Drinking Guidelines created by the Centre for Addiction and Mental Health in 1997 and re-confirmed in 2003 (Appendix A compares the Ontario and new national guidelines). 3 Not only is the Canadian standard drink larger than many countries’ at 13.45g of alcohol (...) a lifetime risk of over 4 in 100 of dying from alcohol-related conditions/injury. These risk levels are for daily drinking at these amounts. ‡ Data from a prospective cohort study; not a SR/meta-analysis. 40.4 g/day to reduce long-term health risks (Canadian LRDG) 53.8 g/day to reduce short-term health risks (Canadian LRDG) 20 Summary of health outcomes related to alcohol consumption All-cause mortality As the average volume of alcohol consumption increases, the lifetime risk of alcohol-related disease

2013 Peel Health Library

112. Clinical practice guidelines for the management of rotator cuff syndrome in the workplace

of a shoulder disorder , but only among those with BMI lower than 25.* In contrast to this finding, four studies have found that high BMI was associated with the development of rotator cuff syndrome. *Miranda et al. 2008 (level II) 135 ; Silverstein et al. 2008 (level IV) 187 ; Bonde et al. 2003 (level IV) 26 ; D’Onise et al. 2010 (level IV) 47 ; Rechardt et al. 2010(level IV) 167 . Subject stature Short stature increased the likelihood of developing shoulder pain among trade apprentices (...) intermittently apply either heat or cold for short periods for pain relief. Recommendations 15: There must be early contact between the injured worker , workplace and health care provider . Recommendation 16: A specific and realistic goal for the RTW of the injured worker , with appropriate time frames, should be established early with outcomes measured and progress monitored. Recommendation 17: The RTW program must involve consultation and engagement with a team which includes the injured worker , relevant

2013 Clinical Practice Guidelines Portal

114. 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 Full Text available with Trip Pro

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.

2017 Journal of bone metabolism

115. First Report of Two Rare Entities in a Family: 49,XXXXY and 45,X Full Text available with Trip Pro

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

2017 Journal of pediatric genetics

116. Poplar stem transcriptome is massively remodelled in response to single or repeated mechanical stimuli Full Text available with Trip Pro

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

2017 BMC genomics

117. A surprising treatment response in a patient with rare isolated growth hormone deficiency, type IB Full Text available with Trip Pro

linearly through adolescence, several years after treatment had been discontinued. Final adult height was >95th percentile for age and race. In conclusion, this is a case of primary hypopituitarism with differential diagnosis of IGHD vs Idiopathic Short Stature vs Constitutional Growth Delay. This case supports two objectives: Firstly, it highlights the importance of confirmatory genetic testing in patients with suspected, though diagnostically uncertain, IGHD. Secondly, it demonstrates a novel (...) A surprising treatment response in a patient with rare isolated growth hormone deficiency, type IB 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

2017 Endocrinology, diabetes & metabolism case reports

118. L’hyperthyroïdie de l’enfant au centre hospitalier universitaire de Dakar (Sénégal) Full Text available with Trip Pro

in the study with a prevalence of 2.4%, a sex ratio (M/F) of 0.36 and an average age of 10.8 years. The inclusion criteria were being the eldest son in a family(26.3%), being advanced (36.9%) or delayed (12.5%) in maturation, having short stature (40.1%). It was caused by Graves' disease in 90.3% of cases with psychoaffective factor in 22.1%. On a clinical point of view tachycardia (92.4%), goiter (91.1%), exophthalmia (81.8%), weight loss (69.8%) prevailed but with bed-wetting (30.2%) and psychic (...) L’hyperthyroïdie de l’enfant au centre hospitalier universitaire de Dakar (Sénégal) 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.We conducted a multicenter, descriptive study over a period of 15 years. We evaluated the epidemiological, clinical and etiologic aspects of hyperthyroidism in children.239 patients were included

2017 The Pan African medical journal

119. Turner syndrome caused by rare complex structural abnormalities involving chromosome X Full Text available with Trip Pro

Turner syndrome caused by rare complex structural abnormalities involving chromosome X Turner syndrome (TS) is a phenotypic heterogeneous genetic disorder caused by the loss of an X-chromosome or X-structural abnormalities in the X-chromosome, and affects approximately 1 in every 2,500 females. The affected individuals may develop diverse clinical features, including short stature, ovarian dysgenesis, skeletal dysplasia, facial abnormalities and other disorders. A constitutional karyotype of 45

2017 Experimental and therapeutic medicine

120. 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

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