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Constitutional Short Stature

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81. 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

82. 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

83. Maternal height and risk of caesarean section in singleton births in Sweden-A population-based study using data from the Swedish Pregnancy Register 2011 to 2016. Full Text available with Trip Pro

Maternal height and risk of caesarean section in singleton births in Sweden-A population-based study using data from the Swedish Pregnancy Register 2011 to 2016. Caesarean section (CS) has short and long term adverse health consequences, and should therefore only be undertaken when necessary. Risk factors such as maternal age, maternal body mass index (BMI) and fetal weight have been extensively investigated in relation to CS, but the significance of maternal height has been less explored (...) in Sweden. The aim was to investigate the significance of maternal height on risk of CS in a representative, population-based sample from Sweden, also taking into account confounders. Data on singleton births in the Swedish Pregnancy Register 2011 to 2016 were collected, including women with heights of 140 cm and above, constituting a sample of 581,844 women. Data were analysed with epidemiological and biostatistical methods. Mean height was 166.1 cm. Women born outside Sweden were significantly shorter

2018 PLoS ONE

84. 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

85. 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

86. 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

87. 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

88. American Association of Clinical Endocrinologists and American College of Endocrinology Clinical Practice Guidelines for Comprehensive Medical Care of Patients with Obesity

of lifestyle therapy are associated with efficacy? 91 Q6.1. Meal plan and macronutrient composition 92 Q6.2. Physical activity 93 Q6.3. Behavior interventions 96 Q7. Is pharmacotherapy effective to treat overweight and obesity? 102 Q7.1. Should pharmacotherapy be used as an adjunct to lifestyle therapy? 102 Q7.2. Does the addition of pharmacotherapy produce greater weight loss and weight-loss maintenance than lifestyle therapy alone? 102 Q7.3. Should pharmacotherapy only be used in the short term to help (...) with efficacy? • Q6.1. Meal plan and macronutrient composition • Q6.2. Physical activity • Q6.3. Behavior interventions Pharmacotherapy for Overweight and Obesity • Q7. Is pharmacotherapy effective to treat overweight and obesity? • Q7.1. Should pharmacotherapy be used as an adjunct to lifestyle therapy? • Q7.2. Does the addition of pharmacotherapy pro- duce greater weight loss and weight-loss mainte- nance compared with lifestyle therapy alone? • Q7.3. Should pharmacotherapy only be used in the short term

2016 American Association of Clinical Endocrinologists

89. 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

90. Diagnosis and Management of Aplastic Anaemia

putative drugs should be discontinued and the patient should not be re‐challenged. If a possible drug association is suspected, this must be reported to the Medicines and MHRA using the Yellow Card Scheme ( ). There is usually no hepatosplenomegaly or lymphadenopathy (except in infection). In young adults the presence of short stature, skin hyper/hypo pigmented areas and skeletal abnormalities, particularly affecting the thumb is suggestive of FA (Shimamura & Alter, ). The triad of nail dystrophy (...) of the chest and pulmonary function tests, and evaluation for other extra‐haematopoietic abnormalities (such as cirrhosis, pulmonary fibrosis or renal anomalies); the presence of these will support a diagnosis of constitutional rather than idiopathic bone marrow failure (BMF). Grade 1B Key recommendations for supportive care Blood transfusions should be given to improve quality of life. Grade 1A A threshold haemoglobin concentration cannot be recommended for all patients; it should be individualized

2015 British Committee for Standards in Haematology

91. Fortification of food-grade salt with iodine for the prevention and control of iodine deficiency disorders

cretinism, including mental deficiency with a mixture of mutism, spastic dysplegia, squint, hypothyroidism and short stature; infant mortality; impaired mental function; delayed physical development; and iodine-induced hyperthyroidism (11, 12). These can be prevented by ensuring that the population has an adequate intake of iodine. Both insufficient and excess iodine can have negative effects on thyroid functioning. Excessive intake of iodine may be associated with complications such as iodine-induced (...) % of households worldwide are estimated to have access to adequately iodized salt (28). However, iodine deficiency disorders still constitute a public health problem in many countries where the salt iodization programmes are weakly implemented. On the other hand, it is important to avoid excess iodine fortification levels. Eleven countries have populations with apparent excessive iodine intakes based on UIC (6); however, the true iodine intake has not been assessed in most of them. Such excess intakes

2015 World Health Organisation Guidelines

92. Aortic Diseases

be clinically silent in many cases, a broad rangeofsymptomsmayberelatedtodifferentaorticdiseases: † Acutedeep,achingorthrobbingchestorabdominalpainthatcan spread to the back, buttocks, groin or legs, suggestive of AD or otherAAS,andbestdescribedas‘feelingofrupture’. † Cough, shortness of breath, or dif?cult or painful swallowing in largeTAAs. † Constantorintermittentabdominalpainordiscomfort,apulsat- ing feeling in the abdomen, or feeling of fullness after minimal foodintakeinlargeAAAs. † Stroke, transient (...) . 61 Compared with axial short-axis or minor-axis diameter measurements, maximum diam- eter measurements perpendicular to the vessel centreline have higher reproducibility. 60 Inter- and intra-observer variability of CT for AAA—de?ned as Bland-Altman limits of agreement—are ap- proximately 5 mm and 3 mm, respectively. 43,61–63 Thus, any change of .5 mm on serial CT can be considered a signi?cant change, but smaller changes are dif?cult to interpret. Compared withCT

2014 European Society of Cardiology

93. Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome. Full Text available with Trip Pro

of cardiac defects, short stature, variable cognitive impairment, and predisposition to malignancies. NS is genetically heterogeneous, and mutations in more than ten genes have been reported to underlie this disorder. Despite the large number of genes implicated, about 10%-20% of affected individuals with a clinical diagnosis of NS do not have mutations in known RASopathy-associated genes, indicating that additional unidentified genes contribute to the disease, when mutated. By using a mixed strategy (...) Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome. Aberrant signaling through pathways controlling cell response to extracellular stimuli constitutes a central theme in disorders affecting development. Signaling through RAS and the MAPK cascade controls a variety of cell decisions in response to cytokines, hormones, and growth factors, and its upregulation causes Noonan syndrome (NS), a developmental disorder whose major features include a distinctive facies, a wide spectrum

2019 American Journal of Human Genetics

94. The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies. (Abstract)

with a distinctive combination of short stature, developmental delay, congenital mental retardation, microcephaly, facial dysmorphism and retinitis pigmentosa (RP). Subjects were clinically diagnosed with suspected Kabuki syndrome. WES revealed a homozygous nonsense mutation (c.5492dup, p.Asn1831Lysfs*8) in VPS13B that is known to cause Cohen syndrome. The index case of family MOL1514 presented with both RP and liver dysfunction, suspected initially to be related. WES identified a homozygous frameshift mutation (...) (c.1787_1788del, p.His596Argfs*47) in AGBL5, associated with nonsyndromic RP. The MOL1592 family included three affected subjects with crystalline retinopathy, skin ichthyosis, short stature and congenital adrenal hypoplasia, and were found to harbour a homozygous nonsense mutation (c.682C>T, p.Arg228Cys) in ALDH3A2, reported to cause Sjögren-Larsson syndrome (SLS). In the fourth family, SJ002, two siblings presented with hypotony, psychomotor delay, dysmorphic facial features, pathologic myopia

2019 Acta ophthalmologica

95. Mentoring Interventions to Affect Juvenile Delinquency and Associated Problems: A Systematic Review Full Text available with Trip Pro

( ; (MENTOR/National Mentoring Partnership, 2009). At the same time there is not much attention to and little certainty about what constitutes a mentoring intervention and might distinguish mentoring from other helping relationships ( ). In addition, more understanding of key processes of a given program could improve ability to compare across programs and cumulatively point toward the important or necessary components that define a program as mentoring ( ). Limited intervention description may be because (...) informative and comparable results (MENTOR/National Mentoring Partnership, 2006). Also, because one common basis for mentoring is a view that the positive influence of an interested person providing a supportive relationship is what is helping, there may well be less interest in trying to specify what activities and processes constitute mentoring and what among these could explain any benefits derived. For all of these reasons formalized protocols and systematic training approaches may not have been

2013 Campbell Collaboration

96. 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

2017 PDQ - NCI's Comprehensive Cancer Database

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

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-sensitive skin changes (...) .[ ] Constitutional 11p15 abnormalities. Constitutional 11p15 abnormalities have been identified in lymphocyte DNA of 13 of 437 individuals (3%) with sporadic Wilms tumor without features of growth disorders, including 12% of bilateral cases. All were de novo abnormalities and appeared to be postzygotic, except for one novel microdeletion in a child whose mother had the mutation and was not affected; however, a subsequently born brother with the microdeletion had Beckwith-Wiedemann syndrome. This suggests

2017 PDQ - NCI's Comprehensive Cancer Database

99. Growth characteristics in children with congenital adrenal hyperplasia Full Text available with Trip Pro

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.

2018 Saudi medical journal

100. De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder. Full Text available with Trip Pro

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

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