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Constitutional Short Stature

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141. Copy number variants and rasopathies: germline KRAS duplication in a patient with syndrome including pigmentation abnormalities Full Text available with Trip Pro

in the most common genes associated with Noonan, cardio-facio-cutaneous, Legius, and Costello syndromes, as well as neurofibromatosis type 1. The patient constitutional DNA exhibited a ~10.5 Mb duplication at 12p, including the KRAS gene. The index case's mother carried the same chromosome abnormality and also showed development delay with short stature, and numerous café-au-lait spots. Duplication of the KRAS gene may participate in the propositus phenotype, in particular of the specific pigmentation (...) Copy number variants and rasopathies: germline KRAS duplication in a patient with syndrome including pigmentation abnormalities RAS/MAPK pathway germline mutations were described in Rasopathies, a class of rare genetic syndromes combining facial abnormalities, heart defects, short stature, skin and genital abnormalities, and mental retardation. The majority of the mutations identified in the Rasopathies are point mutations which increase RAS/MAPK pathway signaling. Duplications encompassing RAS

2016 Orphanet journal of rare diseases

142. Stunting coexisting with overweight in 2·0–4·9-year-old Indonesian children: prevalence, trends and associated risk factors from repeated cross-sectional surveys Full Text available with Trip Pro

of twenty-seven provinces in Indonesia.Children (n 4101) from four waves of the Indonesian Family Life Survey (1993-2007).There were inconsistent trends in the prevalence of concurrent stunting and overweight from waves 1 to 4. Children were more likely to be stunted and overweight when they were in the youngest age group (2·0-2·9 years), were weaned after the age of 6 months, had short-statured mothers or lived in rural areas. Stunted children were significantly more likely to be overweight than (...) Stunting coexisting with overweight in 2·0–4·9-year-old Indonesian children: prevalence, trends and associated risk factors from repeated cross-sectional surveys The persistence of undernutrition, along with overweight and obesity, constitute the double burden of malnutrition. The present study aimed to: (i) describe the prevalence and trends of concurrent stunting and overweight in Indonesian children; (ii) identify potentially associated risk factors; and (iii) determine whether stunted

2016 Public health nutrition

143. Clinical Study of Pegylated Somatropin to Treat Children Growth Hormone Deficiency

(family history). The child has diabetics. The child has abnormal growth and development, such as Turner's syndrome, constitutional delay of growth and puberty, Laron syndrome, growth hormone receptor deficiency, short stature girls with potential chromosomal abnormalities. The child took part in other clinical trials within 3 months. Other conditions are excluded when the investigator preclude the enrollment into the study. Contacts and Locations Go to Information from the National Library (...) ) in the treatment of short stature due to endogenous growth hormone deficiency (GHD) in the broad of population of children. Condition or disease Intervention/treatment Phase Growth Hormone Deficiency Biological: PEG-somatropin Phase 4 Study Design Go to Layout table for study information Study Type : Interventional (Clinical Trial) Estimated Enrollment : 900 participants Allocation: Randomized Intervention Model: Parallel Assignment Masking: None (Open Label) Primary Purpose: Treatment Official Title: Clinical

2016 Clinical Trials

144. A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia Full Text available with Trip Pro

A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia Grebe dysplasia, Hunter-Thompson dysplasia, and du Pan dysplasia constitute a spectrum of skeletal dysplasias inherited as an autosomal recessive trait characterized by short stature, severe acromesomelic shortening of the limbs, and normal axial skeleton. The majority of patients with these disorders have biallelic loss-of-function mutations of GDF5. In single instances, Grebe dysplasia and a Grebe dysplasia-like phenotype

2015 Orphanet journal of rare diseases

145. Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta Full Text available with Trip Pro

Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta Inherited dental malformations constitute a clinically and genetically heterogeneous group of disorders. Here, we report on four families, three of them consanguineous, with an identical phenotype, characterized by significant short stature with brachyolmia and hypoplastic amelogenesis imperfecta (AI) with almost absent enamel. This phenotype was first described in 1996 by Verloes et

2015 Human molecular genetics

146. Genetics of Skin Cancer

, 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, postaxial polydactyly) (Rib abnormalities listed as major criterion; see

2012 PDQ - NCI's Comprehensive Cancer Database

147. Genetics of Breast and Ovarian Cancer

of BRCA1 and BRCA2 pathogenic variants, with an additional protective effect for live birth before age 40 years.[ ] Reproductive history can also affect the risk of ovarian cancer and endometrial cancer. (Refer to the Reproductive History sections in the and sections 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 (...) cancer associated with HRT use in the large meta-analysis did not differ significantly between subjects with and without a family history.[ ] The WHI study has not reported analyses stratified on breast cancer family history, and subjects have not been systematically tested for BRCA1/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

2012 PDQ - NCI's Comprehensive Cancer Database

148. Late Effects of Treatment for Childhood Cancer

Syndrome and Leukemia Therapy-related myelodysplastic syndrome and acute myeloid leukemia (t-MDS/AML) has been reported after treatment of Hodgkin lymphoma (HL), acute lymphoblastic leukemia (ALL), and sarcomas, with the cumulative incidence approaching 2% at 15 years after therapy.[ - ] Characteristics 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

2012 PDQ - NCI's Comprehensive Cancer Database

149. Myeloid Leukemia, Childhood Acute/Other Childhood Myeloid Malignancies

, NOS). World Health Organization (WHO) Classification System for Childhood AML In 2001, the WHO 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

2012 PDQ - NCI's Comprehensive Cancer Database

150. Wilms Tumor and Other Childhood Kidney Tumors

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 in which mutations are known to cause Bloom syndrome.[ ] Li-Fraumeni syndrome. Li-Fraumeni syndrome is a rare disorder that greatly increases the risk of developing (...) syndrome is associated with behavioral problems, congenital cardiac anomalies, neonatal jaundice, and renal anomalies such as Wilms tumor, scoliosis, and seizures. NSD1 is the only gene in which mutations are known to cause Sotos syndrome.[ ] 9q22.3 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

2012 PDQ - NCI's Comprehensive Cancer Database

151. Clinical Practice Guideline on the Diagnosis and Treatment of Osteochondritis Dissecans

does not constitute an endorsement of this guideline by the participating organization. The following organizations participated in peer review of this clinical practice guideline and gave their explicit consent to have their names listed in this document: American College of Occupational and Environmental Medicine (ACOEM) American Physical Therapy Association (APTA) Pediatric Orthopaedic Society of North America Evidence Based Medicine Committee (POSNA) Participation in the AAOS peer review (...) process does not constitute an endorsement of this guideline by the participating organization. AAOS Clinical Practice Guidelines Unit xi v1.1_033111 Table of Contents SUMMARY OF RECOMMENDATIONS III THE DIAGNOSIS AND TREATMENT OF OSTEOCHONDRITIS DISSECANS WORK GROUP IX PEER REVIEW X TABLE OF CONTENTS XI LIST OF TABLES XV I. INTRODUCTION 1 Overview 1 Goals and Rationale 1 Intended Users 1 Patient Population 2 Etiology 3 Incidence 3 Burden of Disease 3 Risk Factors 3 Potential Benefits and Harms 3 II

2010 American Academy of Orthopaedic Surgeons

152. Thoracic Aortic Disease: Guidelines For the Diagnosis and Management of Patients With

, weigh the strength of evidence for or against particular treatments or procedures, and include estimates of expected health outcomes where data exist. Patient-speci?c modi?ers, comorbidities, and issues of pa- tient preference that may in?uence the choice of tests or therapies are considered. When available, information from studies on cost is considered, but data on ef?cacy and clinical outcomes constitute the primary basis for recommendations in these guidelines. The ACCF/AHA Task Force (...) catastrophic complica- tions of thoracic aortic diseases (see Section 9.2). • As noted in Section 18, there are several areas where greater resources for research and both short- and long- term outcomes registries are needed. 1.5. Glossary of Terms and Abbreviations Used Throughout Guideline Aneurysm (or true aneurysm): a permanent localized dila- tation of an artery, having at least a 50% increase in diameter compared with the expected normal diameter of the artery in question. Although all 3 layers

2010 American College of Cardiology

153. Retinitis Pigmentosa (Diagnosis)

Kearns-Sayre syndrome: External ophthalmoplegia, lid ptosis, heart block, and pigmentary retinopathy Abetalipoproteinemia: Fat malabsorption, fat-soluble vitamin deficiencies, spinocerebellar degeneration, and pigmentary retinal degeneration Mucopolysaccharidoses (eg, Hurler syndrome, Scheie syndrome, Sanfilippo syndrome): Can be affected with pigmentary retinopathy Bardet-Biedl syndrome: Polydactyly, truncal obesity, kidney dysfunction, short stature, and pigmentary retinopathy Neuronal ceroid (...) of inherited disorders characterized by progressive peripheral vision loss and night vision difficulties (nyctalopia) that can lead to central vision loss. Gross pathology of an eye in a man with retinitis pigmentosa. With advances in molecular research, it is now known that RP constitutes many retinal dystrophies and retinal pigment epithelium (RPE) dystrophies caused by molecular defects in more than 40 different genes for isolated RP and more than 50 different genes for syndromic RP. Not only

2014 eMedicine.com

154. McCune-Albright Syndrome (Diagnosis)

-term prognosis for infantile Cushing syndrome depends on adequate replacement of both mineralocorticoids and glucocorticoids. Individuals remain at risk for significant morbidity or mortality due to adrenal insufficiency during times of severe stress and should receive stress doses of hydrocortisone on an emergency basis. Hypophosphatemia causes rickets and short stature; the pathophysiology of hypophosphatemic rickets, as well as the need for long-term therapy with calcitriol and phosphorus (...) subunit remains activated for a prolonged period despite the absence of hormone (GPCR ligand) stimulation. This results in constitutive activation of Gs alpha, constant stimulation of adenylyl cyclase, and persistently high levels of intracellular cAMP. Increased cAMP levels can mediate mitogenesis and increased cell function. The specific phenotype depends on the cell type containing the mutation. Mutations in McCune-Albright syndrome inactivate intrinsic guanosine triphosphatase (GTPase) activity

2014 eMedicine.com

155. Osteoporosis in Solid Organ Transplantation (Diagnosis)

transplant during these critical years would fail to accrue normal bone mass or delay achievement of peak bone mass. A cross-sectional case control study of 9 patients who were 12-16 years old at the time of cardiac transplantation found that at 8-16 years posttransplant, transplant recipients had shorter stature than calculated midparental height would predict. [ ] Biochemical parameters suggested renal impairment with secondary hyperparathyroidism, without a difference in vitamin D levels between (...) in patients with ESRD due to diabetic nephropathy. While diabetic patients constitute approximately 20% of those receiving renal transplants, virtually all patients receiving both a pancreatic and renal transplant have type 1 diabetes mellitus. Because type 1 diabetes mellitus itself predisposes to cortical osteopenia and low bone turnover, patients with the condition are clearly at greater risk of transplant-associated bone disease and fracture. [ ] The reasons for this are likely multifactorial. Most

2014 eMedicine.com

156. Infertility (Diagnosis)

. Hypergonadotropic hypogonadism is often related to gonadal development failure, as in , where the karyotype 45,X indicates an absence of an X chromosome. These patients present with sexual infantilism associated with short stature, webbed neck, and cubitus valgus. Streak gonads replace their ovaries, but they have a small uterus and normal fallopian tubes and vagina. This condition is associated with elevated FSH and LH levels and low estrogen levels. Other chromosomal abnormalities include 46,XX, which (...) indicative of infection or endometriosis; assess for defects (eg, absence of vagina and uterus, vaginal septum) Extremities evaluation: Exclude malformation (eg, shortness of fourth finger, cubitus valgus), which can indicate chromosomal abnormalities and other congenital defects Dermatologic evaluation: Assess for the presence of acne, hypertrichosis, and hirsutism The urologist usually examines the male partner if the patient's history of his semen analysis produces an abnormal finding. Attention

2014 eMedicine.com

157. McCune-Albright Syndrome (Overview)

-term prognosis for infantile Cushing syndrome depends on adequate replacement of both mineralocorticoids and glucocorticoids. Individuals remain at risk for significant morbidity or mortality due to adrenal insufficiency during times of severe stress and should receive stress doses of hydrocortisone on an emergency basis. Hypophosphatemia causes rickets and short stature; the pathophysiology of hypophosphatemic rickets, as well as the need for long-term therapy with calcitriol and phosphorus (...) subunit remains activated for a prolonged period despite the absence of hormone (GPCR ligand) stimulation. This results in constitutive activation of Gs alpha, constant stimulation of adenylyl cyclase, and persistently high levels of intracellular cAMP. Increased cAMP levels can mediate mitogenesis and increased cell function. The specific phenotype depends on the cell type containing the mutation. Mutations in McCune-Albright syndrome inactivate intrinsic guanosine triphosphatase (GTPase) activity

2014 eMedicine.com

158. Infertility (Overview)

. Hypergonadotropic hypogonadism is often related to gonadal development failure, as in , where the karyotype 45,X indicates an absence of an X chromosome. These patients present with sexual infantilism associated with short stature, webbed neck, and cubitus valgus. Streak gonads replace their ovaries, but they have a small uterus and normal fallopian tubes and vagina. This condition is associated with elevated FSH and LH levels and low estrogen levels. Other chromosomal abnormalities include 46,XX, which (...) indicative of infection or endometriosis; assess for defects (eg, absence of vagina and uterus, vaginal septum) Extremities evaluation: Exclude malformation (eg, shortness of fourth finger, cubitus valgus), which can indicate chromosomal abnormalities and other congenital defects Dermatologic evaluation: Assess for the presence of acne, hypertrichosis, and hirsutism The urologist usually examines the male partner if the patient's history of his semen analysis produces an abnormal finding. Attention

2014 eMedicine.com

159. Somatosensory Evoked Potentials: General Principles (Overview)

nerve at the ankle. SEPs can also be recorded following stimulation of branches of the trigeminal nerve, but this is technically challenging because of the proximity of the stimulating and recording electrodes and the short latencies of the responses; the electrical stimulus artifact often overlaps with, and obscures, the trigeminal nerve SEPs. Recordings of SEPs to stimulation of the ulnar nerves at the wrists are useful for intraoperative monitoring when the mid-cervical spinal cord or parts (...) is anesthetized during intraoperative SEP monitoring, higher stimulus intensities can be used and are advisable to provide a safety margin in case the efficacy of nerve stimulation decreases during surgery. Factors that can decrease the efficacy of nerve stimulation include edema of the limb, partial short-circuiting of the stimulating current by fluids, and ischemia of the peripheral nerve. [ ] Stimulus rate Rapid stimulus delivery rates should be avoided, as they degrade the SEP waveforms. In clinical

2014 eMedicine.com

160. Bone Marrow Failure (Overview)

with this disease develop aplastic anemia in their second decade of life Shwachman-Diamond syndrome - This disorder consists of exocrine pancreatic insufficiency and bone marrow failure; occasionally, cartilage and hair hypoplasia occur, resulting in short stature and dysostosis Single cytopenias Pure red cell aplasia may be a secondary disorder caused by a thymoma. It may also occur transiently, resulting from a viral infection, as with parvovirus B19. Pure red cell aplasia also may be permanent, as a result (...) in the gene for small ribosomal protein ( RPS19 ), located at band 19q13.2. In half of the patients, severe congenital neutropenia is associated with dominant mutations in neutrophil elastase ( ELA2, located at band 19p13.3), while a few patients have mutations in GFI-1. Thrombocytopenia absent radii syndrome is associated with bone marrow failure, but no genetic defect for bone marrow failure has been identified in this autosomal recessive disorder. Constitutional causes Constitutional aplastic anemia

2014 eMedicine.com

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