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Constitutional Short Stature

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61. Müllerian Agenesis: Diagnosis, Management, and Treatment

with primary amenorrhea demonstrates delayed puberty, a serum follicle stimulating hormone level (FSH) and karyotype should be performed. The most common genetic etiology of pubertal delay and primary amenorrhea is Turner syndrome with a 45,X karyotype and an elevated FSH. Additional testing for the presence of Y chromatin (mosaicism) should be considered. The patient with Turner syndrome usually will have short stature, a typical length vagina, cervix and uterus present, and delayed puberty due (...) 409 12th Street SW, Washington, DC 20024-2188 Mailing Address: PO Box 96920, Washington, DC 20024-9998 Copyright 2019. All rights reserved. Use of this Web site constitutes acceptance of our

2018 American College of Obstetricians and Gynecologists

63. Elosulfase alfa for treating mucopolysaccharidosis type Iva

paralysed or die. Bone and joint problems often cause chronic pain. Progressive hearing loss and frequent periods of diarrhoea can be debilitating and isolating. MPS IVa causes reduced life expectancy; the average life expectancy in people with this condition is about 25 years. The combination of symptoms in MPS IVa, including physical features and short stature, can cause considerable anxiety, depression and low self-esteem. Expensive wheelchairs and home adaptations carry a financial burden, which can (...) to the circumstances of the individual patient, in consultation with the patient and/or their carer or guardian. Commissioners and/or providers have a responsibility to provide the funding required to enable the guidance to be applied when individual health professionals and their patients wish to use it, in accordance with the NHS Constitution. They should do so in light of their duties to have due regard to the need to eliminate unlawful discrimination, to advance equality of opportunity and to reduce health

2016 National Institute for Health and Clinical Excellence - Highly specialised technology

64. Integrated Limb Lengthening Is Superior to Classical Limb Lengthening: A Systematic Review and Meta-analysis of the Literature Full Text available with Trip Pro

was in the third and early fourth decade of life. Only two studies reported mean ages in the fifth decade. , In the classic group, a 60% male majority was noted. In the integrated group, a 54.3% male majority was noted. The indications for limb lengthening were very diverse for both groups. All indications for lengthening could be organized under one of the following headings: congenital, developmental, post-traumatic, and constitutional short stature. The two studies by Lan et al and Park et al were the only (...) studies where limb lengthening was indicated exclusively for constitutional short stature. Bernstein et al did limb lengthening exclusively for post-traumatic bone loss. The seven other studies all had combinations of congenital, developmental, and post-traumatic indications for limb lengthening. Regarding implant specifications, the Taylor Spatial Frame (Smith & Nephew) was the external fixator of choice in three studies. , , Sun et al opted for hybrid external fixation, whereas the remaining six

2020 JAAOS: Global Research and Reviews

65. Management of Valvular Heart Disease Full Text available with Trip Pro

that constitute the minimal core requirements have been released. Experience in the full spectrum of surgical procedures—including valve replacement; aortic root surgery; mitral, tricuspid and aortic valve repair; repair of complicated valve endocarditis such as root abscess; treatment of atrial fibrillation as well as surgical myocardial revascularization—must be available. The spectrum of interventional procedures in addition to TAVI should include mitral valvuloplasty, mitral valve repair (edge-to-edge (...) , NOACs may be used in patients who have atrial fibrillation associated with an aortic bioprosthesis >3 months after implantation but are strictly contraindicated in patients with any mechanical prostheses. , Surgical ablation of atrial fibrillation combined with mitral valve surgery is effective in reducing the incidence of atrial fibrillation, but at the expense of more frequent pacemaker implantation, and has no impact on short-term survival. Surgical ablation should be considered in patients

2017 European Society of Cardiology

66. Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting Full Text available with Trip Pro

systematic review of the literature. These four questions related to the efficacy and most optimal treatment of short stature, infertility, hypertension, and hormonal replacement therapy. The guidelines project was initiated by the European Society of Endocrinology and the Pediatric Endocrine Society, in collaboration with the European Society for Paediatric Endocrinology, the Endocrine Society, the European Society of Human Reproduction and Embryology, the American Heart Association, the Society (...) with a separate systematic review of the literature. These four questions related to the efficacy and most optimal treatment of short stature, infertility, hypertension, and hormonal replacement therapy. The guidelines project was initiated by the European Society of Endocrinology and the Pediatric Endocrine Society, in collaboration with the European Society for Paediatric Endocrinology, the Endocrine Society, the European Society of Human Reproduction and Embryology, the American Heart Association

2016 European Society of Human Reproduction and Embryology

67. European Society of Endocrinology Clinical practice guidelines for the care of girls and women with Turner syndrome

of the literature. These four questions related to the efficacy and most optimal treatment of short stature, infertility, hypertension, and hormonal replacement therapy. The guidelines project was initiated by the European Society of Endocrinology and the Pediatric Endocrine Society, in collaboration with the European Society for Paediatric Endocrinology, the Endocrine Society, the European Society of Human Reproduction and Embryology, the American Heart Association, the Society for Endocrinology (...) review of the literature. These four questions related to the efficacy and most optimal treatment of short stature, infertility, hypertension, and hormonal replacement therapy. The guidelines project was initiated by the European Society of Endocrinology and the Pediatric Endocrine Society, in collaboration with the European Society for Paediatric Endocrinology, the Endocrine Society, the European Society of Human Reproduction and Embryology, the American Heart Association, the Society

2017 European Society of Endocrinology

70. Obesity in Adolescents

in preventing short-term and long-term morbidity. The obstetrician–gynecologist who is knowledgeable about the behavioral and environmental factors that influence obesity may be better able to educate parents, guardians, and adolescents and advocate for programs that increase physical activity and improve nutrition. The obstetrician–gynecologist should be able to identify obese adolescents, particularly those at risk of comorbid conditions. They may have the opportunity to initiate behavioral counseling (...) , and psychologist or psychiatrist, should be used to select appropriate candidates for surgical intervention and provide postoperative support. Introduction Rates of obesity among adolescents in the United States have increased at a dramatic rate along with the prevalence of weight-related diseases. Because the obese female adolescent faces medical, psychologic, and reproductive health challenges, early intervention is imperative in preventing short-term and long-term morbidity. The obstetrician–gynecologist

2017 American College of Obstetricians and Gynecologists

71. Faltering growth: recognition and management of faltering growth in children.

short stature (see recommendation above) Rapid weight loss or severe undernutrition Features that cause safeguarding concerns (see the NICE guideline on ). Organisation of Care Ensure there is a pathway of care for infants and children where there are concerns about faltering growth or weight loss in the early days of life that: Clearly sets out the roles of healthcare professionals in primary and secondary care settings Establishes and makes clear the process for referral to and coordination (...) , based on the assessment, advise on food choices for infants and children that: Are appropriate to the child's developmental stage in terms of quantity, type and food texture Optimise energy and nutrient density. In infants or children who need a further increase in the nutrient density of their diet beyond that achieved through advice on food choices, consider: Short-term dietary fortification using energy-dense foods Referral to a paediatric dietitian. Advise the parents or carers of infants

2017 National Guideline Clearinghouse (partial archive)

72. Interventions Targeting Sensory Challenges in Children with Autism Spectrum Disorder - An Update

high risk of bias [ROB]). Populations, intervention approaches, and outcomes assessed varied across studies. Relative to usual care or other interventions, sensory integration–based approaches improved measures related to sensory and motor skills in the short term (3 RCTs with high, moderate, and low ROB and 1 high ROB retrospective cohort study). Environmental enrichment improved nonverbal cognitive skills in treated children compared with standard care in two small RCTs (low and moderate ROB (...) and high ROB) of interventions with sensory-related components (tactile stimulation exercises, weighted blankets) reported few significant differences between treatment groups. Conclusions. Some interventions targeting sensory challenges may produce modest short-term ( 70), both groups received active treatment that included either SI therapy or eclectic group therapy. 39 Treatment lasted for 8 to 10 months. Participants in the SI group improved significantly more than those in the control group

2017 Effective Health Care Program (AHRQ)

73. Management of carpal tunnel syndrome evidence-based clinical practice guideline

on possible short term benefits. Strength of Strength of Recommendation: Limited Evidence Description: Evidence from two or more “Low” strength studies with consistent findings or evidence from a single study for recommending for or against the intervention or diagnostic test or the evidence is insufficient or conflicting and does not allow a recommendation for or against the intervention. SURGICAL VERSUS NONOPERATIVE Strong evidence supports that surgical treatment of carpal tunnel syndrome should have

2016 American Academy of Orthopaedic Surgeons

74. Clinical Practice Guidelines on Obesity

be relatively high before initiating therapy. Proper evaluation of issues related to motivation should be undertaken. (pg 40) Grade C, Level 2 + Treatment: Introduction A A multi-faceted or a multi-disciplinary strategy should be utilised to achieve and maintain weight loss. This could be adequately achieved at the primary health care level depending on the patient’s response. (pg 41) Grade A, Level 2 + A The appropriate short-term treatment goals are an initial 5–10% weight loss over 6 months (...) , and if this is not attainable, then a prevention of further weight gain may be recommended, which can improve mechanical symptoms and metabolic parameters. Long-term goals should continue in the same vein as the short-term goals, and the patient should be encouraged to lose more weight if possible (e.g. 10–20% of initial body weight). (pg 42) Grade A, Level 1 ++ A Realistic weight loss should be safe and should preferably not exceed 0.5–1 kg a week. (pg 42) Grade A, Level 1 ++4 Treatment: Diet C Nutritional counselling

2016 Ministry of Health, Singapore

75. Enhancing Literacy in Cardiovascular Genetics: A Scientific Statement From the American Heart Association Full Text available with Trip Pro

genetic syndrome with multisystem involvement: Syndrome diagnosis, care coordination, and implementation of health supervision guidelines Intellectual or learning disability; autism; other cognitive impairment Dysmorphic features Short stature Features of connective tissue disease Any congenital anomaly Endocrine abnormalities Sensory deficits such as hearing loss or visual impairment Neurological deficits or psychiatric illness Unexplained medical conditions Family history of heritable cardiac (...) arrhythmias, which include long-QT syndrome (LQTS), Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, and short-QT syndrome. In the young, LQTS is an important cause of SCD caused by ventricular arrhythmias, generally attributed to torsade de pointes. It is inherited in an autosomal dominant manner, and numerous genes have been identified. Although LQTS most often occurs in an isolated manner, it can occur in the setting of well-described syndromes including the autosomal recessive

2016 American Heart Association

76. NASPGHAN Clinical Report on the Diagnosis and Treatment of Gluten-related Disorders

be associated with CD. Anemia, most commonly as a result of iron deficiency, has been reported in 12% to 69% of newly diagnosed patients (15–18) and appears more prevalent in celiac patients with an atrophic mucosa compared with those with mild enteropathy (19). Linear growth failure as an isolated initial presentation of CD is well described and can be found in up to 10% of children undergoing investigation for short stature (20,21). Dermatitis herpetiformis (DH) is considered a skin presen- tation of CD (...) Gastroenterol 1998;33:1280–3. 18. Hin H, Bird G, Fisher P, et al. Coeliac disease in primary care: case ?nding study. BMJ 1999;318:164–7. 19. Zanini B, Caselani F, Magni A, et al. Celiac disease with mild entero- pathy is not mild disease. Clin Gastroenterol Hepatol 2013;11:253–8. 20. Troncone R, Kosova R. Short stature and catch-up growth in celiac disease. J Pediatr Gastroenterol Nutr 2010;51:S137–8. 21. CacciariE,SalardiS,LazzariR,etal.Shortstatureandceliacdisease:a relationship to consider even

2016 North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition

77. Clinical Practice Guidelines From the Cystic Fibrosis Foundation for Preschoolers With Cystic Fibrosis

heterogeneity and appears to be more sensitive than spirometry in detecting pulmonary function abnormalities in young children with CF. Two prospective studies that included preschool-aged children reported that MBW indices, specifically lung clearance index (LCI), was more sensitive than spirometry in detecting abnormal lung function , and was generally abnormal in preschoolers with CF compared with healthy controls. The utility of MBW in the clinical setting and what constitutes a clinically significant (...) , it is recommended that weight-for-age of preschoolers with CF be maintained at ≥10th percentile. : Recommendation 32. Measurement of height and weight, with calculation of BMI percentile using Centers for Disease Control and Prevention growth charts, should be performed to assess weight-for-stature. , Weight-for-height and BMI must be evaluated in the context of the child’s height. Stunting is a risk in CF and can obscure nutritional risk in a child. Preschoolers with CF should maintain a BMI ≥50th percentile

2016 Cystic Fibrosis Foundation

78. Enteral tube feeding for individuals with cystic fibrosis: Cystic Fibrosis Foundation evidence-informed guidelines Full Text available with Trip Pro

and weight-for-length percentile for 0–2 years; weight/age percentile, stature/age percentile and body mass index (BMI) percentile for 2–20 years; and BMI value for adults [ x [21] Grummer-Strawn, L.M., Reinold, C., and Krebs, N.F. Centers for disease control and prevention. Use of World Health Organization and CDC growth charts for children aged 0–59 months in the United States. MMWR Recomm Rep . 2010 ; 59 : 1–15 | , x [22] Ogden, C.L., Kuczmarski, R.J., Flegal, K.M. et al. Centers for disease control (...) in patients with severe pulmonary dysfunction. Optimal lung function should be attained prior to anesthesia. 7. The CF Foundation recommends nasoenteral tube feeding in individuals with CF who require short-term (less than 3 months) nutritional repletion. NG feeding avoids the risk of surgery, and placement is easily reversible. In selected patients NG feeds may be suitable for short-term nutritional rehabilitation during an acute illness or as a trial of feeding tolerance prior to GT placement. While

2016 Cystic Fibrosis Foundation

79. Term small for gestational age baby

associated with term gestation moderate and severe SGA Odds ratio [95% Confidence Interval]* Variable 6 Moderate SGA 6 Severe SGA 6 Primiparity 1.7 [1.1, 2.5] 1.9 [1.0, 3.7] Short maternal stature 2.9 [1.9, 4.3] 2.2 [1.1, 4.6] Antenatal smoking 1.8 [1.1, 3.1] 4.0 [1.9, 8.1] Preeclampsia 0.3 [0.0, 2.2] 7.3 [3.1, 17.3] Threatened preterm labour 0.9 [0.3, 2.6] 4.7 [1.9, 11.6] Low placental weight 16.4 [10.4, 26.0] 22.0 [11.0, 44.3] * Univariable associations with severe and moderate term SGA: results (...) the fetus to survive but may result in adverse sequelae for the baby and potentially for the adult if prolonged. 13,14 The diagnosis of reduced fetal growth rate is important. Once detected, further obstetric assessment is required to determine the cause and guide pregnancy management. Small size may be constitutional and reflect a normal physiological variance, however, reduced growth rate may occur secondary to maternal, placental and/or fetal factors. Queensland Clinical Guideline: Term small

2016 Queensland Health

80. Guideline on the management of premature ovarian insufficiency

and to keep it up-to-date, it cannot, however, guarantee the correctness, completeness, and accuracy of the guideline in every respect. In any event, these clinical practice guidelines do not necessarily represent the views of all clinicians that are member of ESHRE. The information provided in this document does not constitute business, medical or other professional advice, and is subject to change. 3 CONTENTS Introduction to the Guideline 5 Summary 7 Interpretation on the grades of recommendations 7 (...) be made to reduce the incidence of POI. Modifiable factors may include: ? gynaecological surgical practice ? lifestyle – smoking ? modified treatment regimens for malignant and chronic diseases. References Albright F, Smith P, Fraser R. A syndrome characterized by primary ovarian insufficiency and decreased stature. Am J Med Sci 1942;204: 625- 648. Alexandru Dan Corlan. Medline trend: automated yearly statistics of PubMed results for any query, 2004. . Retrieved 13 november 2015, from http

2015 European Society of Human Reproduction and Embryology

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