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Constitutional Short Stature

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121. 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

122. Pseudoautosomal abnormalities in terminal AZFb+c deletions are associated with isochromosomes Yp and may lead to abnormal growth and neuropsychiatric function. Full Text available with Trip Pro

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

2017 Human Reproduction

123. 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. Full Text available with Trip Pro

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

2017 BMC Public Health

124. Patient Dignity (Formerly:Patient Modesty):Volume 99

could have driven myself as it turned out as I had no effect from the Valium. My heartbeat was about 125 which told the LPN I was very nervous. BP was 160 over 98. I brought along a sample pack of colonoscopy shorts and asked if there would be a problem with me wearing these. The LPN said she had never heard of this and thought it was a great idea. She took them to the doctor to inquire if this was OK for my procedure. The doctor approved them and I was allowed to put them on. I was determined (...) to wear them anyway regardless. The procedure went well. The LPN came into the room with the male ARNP. I was too close to the edge of the exam table and she had me move more to my left so I wouldn't fall off the table. I felt comfortable with the procedure shorts on. The doctor came in and got to work, first with a DRE. I noted the position of all in the room and the female LPN was positioned directly behind me facing away from me. Her job was to put the samples of the biopsy into the proper

2019 Bioethics Discussion Blog

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

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 50% and 46% for patients with mutated NOTCH1 / FBXW7 and mutated PTEN / RAS versus 13% and 87% for patients with mutated NOTCH1 / FBXW7 and wild-type PTEN / RAS .[ ] The overall 5-year DFS in the FRALLE study was 73%, and additional

2016 PDQ - NCI's Comprehensive Cancer Database

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

of t-MDS/AML include 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

2016 PDQ - NCI's Comprehensive Cancer Database

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

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-sensitive skin changes, and an increased risk of Wilms tumor. BLM is the only gene (...) of one copy of the PAX6 gene that includes part or all of the adjacent WT1 gene but does not result in genitourinary abnormalities or retardation (i.e., not obviously WAGR syndrome). Therefore, many patients with sporadic aniridia develop Wilms tumor and are candidates for genetic testing. 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

2016 PDQ - NCI's Comprehensive Cancer Database

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

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 to the section (...) /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 information

2016 PDQ - NCI's Comprehensive Cancer Database

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

Congenital skeletal abnormalities: bifid, fused, splayed, or missing rib or bifid, wedged, or fused vertebrae Bridging of sella turcica, vertebral abnormalities (hemivertebrae, fusion or elongation 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

2016 PDQ - NCI's Comprehensive Cancer Database

130. Xi's Consolidation of Power at the 19th Party Congress: Implications for PLA Aerospace Forces

Graduate School Site-wide Search Search and China's paramount leader, Xi Jinping, has emerged from the recent 19th Party Congress stronger than at least his past two predecessors. Xi solidified his grip on power by enshrining “Xi Jinping Thought” into the Party constitution and unveiling a new Politburo Standing Committee that does not include a clear successor, suggesting he may break with recent precedent and remain in power after his second five-year term. Xi continues to derive leverage from his (...) , and strong China by 2050. Boldly echoing “Mao Zedong Thought” by referring to his own ideology as “Xi Jinping Thought on Socialism with Chinese Characteristics for a New Era,” Xi enshrined his doctrine into the party constitution, making it an all-pervasive feature of Chinese politics and society ( , November 10). Although his predecessors also enshrined their ideologies into the constitution, only Mao Zedong, Deng Xiaoping, and now Xi are listed by name in the constitution. It is a true testament

2017 The RAND blog

131. Childhood Acute Myeloid Leukemia/Other Myeloid Malignancies Treatment (PDQ®): Health Professional Version

proposed a new classification system that incorporated diagnostic cytogenetic information and that more reliably correlated with outcome. In this classification, patients with t(8;21), inv(16), t(15;17), or KMT2A ( MLL ) translocations, which collectively constituted nearly half of the cases of childhood AML, were classified as AML with recurrent cytogenetic abnormalities . This classification system also decreased the bone marrow percentage of leukemic blast requirement for the diagnosis of AML from

2015 PDQ - NCI's Comprehensive Cancer Database

132. The Impact of Early Life Stress on Growth and Cardiovascular Risk: A Possible Example for Autonomic Imprinting? Full Text available with Trip Pro

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.

2016 PLoS ONE

133. Management of obesity

interventions encouraging physical activity change are useful to induce short term physical activity changes. 111 Algorithms that attempt to stage readiness to change may be more effective if tied explicitly to the specific behaviours targeted by the intervention, rather than broad general behaviours, and multiple algorithms may be required. 112-114 D Healthcare professionals should discuss willingness to change with patients and then target weight loss interventions according to patient willingness around

2010 SIGN

134. Breast Reduction Mammaplasty

. There is no lasting non-operative treatment for female symptomatic breast hypertrophy. Orthotic brassieres may offer some relief but often substitute increased discomfort in the shoulders through pressure created by the straps. Operative treatment with reduction mammaplasty currently offers the best approach to symptomatic relief and constitutes the most common therapy for symptomatic breast hypertrophy. 5444 East Algonquin Road • Arlington Heights, IL 60005-4664 • 847-228-9900 • DIAGNOSTIC (...) CRITERIA A determination of female symptomatic breast hypertrophy is based on individual breast size and symptomatology. The diagnosis of breast hypertrophy involves a comparison of overall body stature with breast size as determined by the relative volume of breast tissue (see definition previously stated). Symptomatology The symptoms of female symptomatic breast hypertrophy involve the following: • Muscle strain, such as backache, neck pain, shoulder pain, and less frequently headache, and/or upper

2011 American Society of Plastic Surgeons

135. Evaluation and Treatment of Adult Growth Hormone Deficiency Full Text available with Trip Pro

by regulatory agencies for treatment of GHD in children and also for short stature due to causes other than GHD, such as Turner's or Noonan's syndrome, renal failure, short stature homeobox ( SHOX ) deficiency, small size for gestational age in patients who fail to catch-up to the normal growth percentiles, Prader-Willi syndrome, and idiopathic short stature. In the past, GH therapy has generally been discontinued once adult height has been achieved. Continuation of GH treatment in GH-deficient children (...) diagnosis was constitutional delay in growth and puberty and not isolated idiopathic GHD, but the initial GH provocative tests carried out without estrogen “priming” failed to make this distinction ( ). Finally, it remains possible that transient GHD in childhood is a real entity, although longitudinally obtained proof is lacking. Because of the greater GH requirements for normal growth in children, it is possible that in some patients the GHD was partial but severe enough to prevent normal growth

2011 The Endocrine Society

136. American Association of Clinical Endocrinologists Medical Guidelines for Clinical Practice for the Diagnosis and Treatment of Acromegaly

; BEL 3). • R9. Cardiac evaluation including an electrocardiogram and an echocardiogram may be considered, particularly if the patient has signs or symptoms suggestive of car- diac involvement, such as arrhythmias and shortness of breath (Grade C; BEL 4). • R10. Patients with known cardiac disease should be considered for a formal cardiology consultation before a surgical procedure is performed (Grade C; BEL 4). • R11. Although there is insufficient evidence to state that patients with acromegaly (...) . Constitutional Symptoms Fatigue and weakness are commonly described by patients with acromegaly and may be prominent symp- toms. These symptoms may reflect the associated medical consequences of acromegaly, including sleep apnea syn- drome, cardiomyopathy with reduced function, hypopitu- itarism, hyperthyroidism, depressed mood, and diabetes mellitus. 5.5.7. Neoplasms An increased risk of cancer, particularly of the colon, in patients with acromegaly has been suggested largely by retrospective studies

2011 American Association of Clinical Endocrinologists

137. 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

138. Rare congenital chromosomal aberration dic(X;Y)(p22.33;p11.32) in a patient with primary myelofibrosis Full Text available with Trip Pro

Rare congenital chromosomal aberration dic(X;Y)(p22.33;p11.32) in a patient with primary myelofibrosis Constitutional translocations between sex chromosomes are rather rare in humans with breakpoints at Xp11 and Yq11 as the most frequent. Breakpoints on the short arm of the Y chromosome form one subgroup of t(X;Y), giving rise to a derived chromosome with the centromeres of both the X and Y chromosomes, dic(X;Y). Here, we report a rare congenital chromosomal aberration, 46,X,dic(X;Y)(p22.33 (...) and the short stature of the proband led to a diagnosis of Léri-Weill dyschondrosteosis (LWD). The gain of almost the whole X chromosome (153,7 Mbp) was considered a variant of Klinefelter syndrome (KS). The levels of gonadotropins and testosterone were consistent with gonadal dysfunction. A malformation of the right external ear was detected.We have reported a structural aberration of the sex chromosomes, dic(X;Y)(p22.33;p11.32). The related genomic imbalance is associated with two known hereditary

2016 Molecular cytogenetics

139. Failure to thrive in babies and toddlers Full Text available with Trip Pro

Failure to thrive in babies and toddlers Failure to thrive in a child is defined as 'lack of expected normal physical growth' or 'failure to gain weight'. Diagnosis requires repeated growth measurements over time using local, age-appropriate growth centile charts. Premature babies with appropriate growth velocity and children with 'catch-down' growth, constitutional growth delay or familial short stature show normal growth variants, and usually do not require further evaluation. In Singapore

2016 Singapore medical journal

140. Cosmetic lengthening: what are the limits? Full Text available with Trip Pro

Cosmetic lengthening: what are the limits? In the last decades, limb lengthening has not been limited to the treatment of patients with dwarfism and deformities resulting from congenital anomalies, trauma, tumor and infections, but, has also been used for aesthetic reasons. Cosmetic lengthening by the Ilizarov method with circular external fixation has been applied to individuals with constitutional short stature who wish to be taller.From January 1985 to December 2010, the medical records (...) of 63 patients with constitutional short stature (36 M, 27F; 126 legs) who underwent cosmetic bilateral leg lengthening using a hybrid advanced fixator according to the Ilizarov method, were reviewed, retrospectively. The mean age was 24.8 years, while the mean preoperative height was 152.6 cm. Paley's criteria were used to evaluate problems, obstacles, and complications from the time of surgery until 1 year after frame's removal.The mean lengthening achieved in all patients was 7.2 cm (range: 5-11

2016 Journal of children's orthopaedics

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