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Constitutional Short Stature

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81. Amenorrhoea

) and luteinizing hormone (LH) If secondary sexual characteristics are absent, karyotyping in secondary care may be necessary. Short stature and high FSH and LH levels suggest Turner's syndrome. Short stature and low FSH and LH levels suggest an intracranial lesion for example, hydrocephalus. Normal height and high FSH and LH levels suggest ovarian failure (normal karyotype) or 46XY (abnormal karyotype). Normal height and low FSH and LH levels suggest constitutional delay, weight loss, anorexia nervosa (...) suggest an eating disorder or the ). Examine for: Features of Turner's syndrome (short stature, web neck, shield chest with widely spaced nipples, wide carrying angle, and scoliosis). Features of Cushing's syndrome (striae, buffalo hump, significant central obesity, easy bruising, hypertension, and proximal muscle weakness). Hirsutism and acne (suggesting PCOS, especially in those with a high BMI). See the CKS topic on for more information. Features of thyroid and other endocrine disease. See the CKS

2018 NICE Clinical Knowledge Summaries

82. 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. (PubMed)

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

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2018 PLoS ONE

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

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

84. Burosumab (Crysvita) - X-linked hypophosphataemia/hypophosphatemia

albumin ALP alkaline phosphatase API Active Pharmaceutical Ingredient AS Active Substance ATP adenosine triphosphate AUC area under the serum concentration time curve AUC0-8 AUC from zero to infinity AUC0-t AUC from zero to the last detectable time point AUClast AUC from zero to the time of last measured concentration BAL BioAgilytix BALP bone-specific alkaline phosphatase BP Bodily Pain or Blood pressure BPI Brief Pain Inventory BPI-SF Brief Pain Inventory – Short Form BR Batch Record BSV Between (...) process constitutes of three main parts: 1) upstream cell culture process, 2) downstream purification process, and 3) filtration and storage. Burosumab AS is filled in bags and shipped from the AS manufacturing site to the FP manufacturing site in the same area of the Takasaki Plant. The shipping method is qualified to keep the AS in a frozen state under the specified temperature range and operating time. The media used in the upstream cell culture process do not contain any materials of animal origin

2018 European Medicines Agency - EPARs

85. Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome. (PubMed)

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

86. 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

87. 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

2017 PDQ - NCI's Comprehensive Cancer Database

88. 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

89. 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

90. 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

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. Guidelines for the prevention of stroke in women

for certain age-sex groups. Figure 1. US stroke mortality rates for women, 2009. Am Indian indicates American Indian; Non-Hisp, non-Hispanic; and PI, Pacific Islander. Figure 2. Female-male US stroke mortality ratio, 2009. Am Indian indicates American Indian; Non-Hisp, non-Hispanic; and PI, Pacific Islander. Ischemic Stroke An analysis of US death 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 (...) , women have lower age-adjusted ICH mortality rates than men (13.3 per 100 000 for women and 16.2 per 100 000 for men; RR, 0.82; 95% CI, 0.81–0.83). Mortality was lower for women aged <65 years, but there was no sex difference in ICH mortality risk for adults ≥65 years of age. Total Stroke Case Fatality The findings of studies that have examined sex differences in short-term case-fatality rates (commonly defined as within 30 days of onset and inclusive of all strokes) have been quite variable

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2014 American Academy of Neurology

94. 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

95. 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

96. Guidelines for the Prevention of Stroke in Women: A Statement for Healthcare Professionals From the American Heart Association/American Stroke Association

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

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2014 American Heart Association

97. Heart Disease and Stroke Statistics?2016 Update

blacks. Diabetes Mellitus (Chapter 10) Diabetes mellitus affects 1 in 10 US adults, with 90% to 95% of cases being type 2 diabetes mellitus. Diabetes mellitus disproportionately affects racial/ethnic minorities. Type 2 diabetes mellitus is increasingly common in children and adolescents; the disease historically was diagnosed primarily in adults ≥40 years of age. The prevalence of type 2 diabetes mellitus in children/adolescents has increased by 30.5% between 2001 and 2009, and it now constitutes ≈50 (...) cumulative life-course exposure to sedentary behavior and physical inactivity; screen time, including television viewing; fast food intake; short sleep duration; and intake of sugar-sweetened beverages. Each of these risk factors is reversible with lifestyle change. Cardiovascular Conditions/Diseases (Chapters 13 to 22) Rates of death attributable to CVD have declined in the United States, but the burden remains high. Total Cardiovascular Diseases (Chapter 13) The 2013 overall rate of death attributable

2014 American Heart Association

99. A de novo KMT2D mutation in a girl with Kabuki syndrome associated with endocrine symptoms: a case report. (PubMed)

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).

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2018 BMC Medical Genetics

100. Delayed puberty versus hypogonadism: a challenge for the pediatrician (PubMed)

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

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2018 Annals of pediatric endocrinology & metabolism

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