How to Trip Rapid Review

Step 1: Select articles relevant to your search (remember the system is only optimised for single intervention studies)

Step 2: press

Step 3: review the result, and maybe amend the or if you know better! If we're unsure of the overall sentiment of the trial we will display the conclusion under the article title. We then require you to tell us what the correct sentiment is.

311 results for

Constitutional Short Stature

by
...
Latest & greatest
Alerts

Export results

Use check boxes to select individual results below

SmartSearch available

Trip's SmartSearch engine has discovered connected searches & results. Click to show

141. Sivextro - tedizolid phosphate

tests for this kind of dosage form appearance, identification (IR and HPLC), assay (HPLC), degradation products (HPLC), uniformity of dosage units by weight variation (Ph. Eur.), loss on drying (Ph. Eur.), bacterial endotoxins (Ph. Eur.) and sterility (Ph. Eur.). Additional tests are carried out on the reconstituted solution: reconstitution time (visual), constituted solutions (clarity and degree of opalescence of liquids, degree of coloration of liquids, particulate contamination: visible particles (...) were also provided. Samples were tested for appearance, reconstitution time, constituted solutions pH, particulate matter (sub-visible particles), assay, degradation products, loss on drying and chiral purity, sterility and bacterial endotoxins. The stability data indicate that there were no significant trends or variability in the parameters tested. In addition, forced degradation studies (under heat, light, acid, base, and oxidation conditions) and a photostability study conducted in line

2015 European Medicines Agency - EPARs

142. 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

143. 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

144. A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia (PubMed)

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

Full Text available with Trip Pro

2015 Orphanet journal of rare diseases

145. Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta (PubMed)

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

Full Text available with Trip Pro

2015 Human molecular genetics

146. 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

147. 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

148. 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

149. 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

150. 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

151. Ataxia with Identified Genetic and Biochemical Defects (Follow-up)

of such defects are as follows: [ ] Carnitine palmitoyltransferase-1 deficiency Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) Multiple-acyl-CoA dehydrogenase deficiency (glutaric aciduria type II) Primary systemic carnitine deficiency Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency Short-chain acyl-CoA dehydrogenase deficiency Trifunctional enzyme deficiency Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD) Clinical features Episodic vomiting Intermittent bouts of weakness, lethargy

2014 eMedicine.com

152. Diastrophic Dysplasia (Diagnosis)

: Apr 30, 2018 Author: Shital Parikh, MD; Chief Editor: Harris Gellman, MD Share Email Print Feedback Close Sections Sections Diastrophic Dysplasia Overview Background Skeletal dysplasias are a heterogeneous group of dysplasias that include more than 200 recognized conditions. They are disorders of growth and remodeling of bone and cartilage. Most disorders result in short stature, which is defined as height more than two standard deviations below the mean for the population at a given age. (When (...) one discusses height in patients with short stature, one may say "smaller than average" rather than "dwarf.") Lamy and Maroteaux first delineated this syndrome in 1960 and coined the term diastrophic dwarfism. [ ] The term diastrophic is derived from the Greek word diastrophe ("distortion, twisting"); it is a geologic term used to describe the bending and twisting of the earth's crust during geomorphogenesis. This name seems appropriate for this disorder, in which the skeleton appears twisted

2014 eMedicine Surgery

153. Achondroplasia (Diagnosis)

: Shital Parikh, MD; Chief Editor: Jeffrey D Thomson, MD Share Email Print Feedback Close Sections Sections Achondroplasia Overview Background The are a heterogeneous group of disorders characterized by intrinsic abnormalities in the growth or remodeling of cartilage and bone. They affect the skull, spine, and extremities in varying degrees. [ ] Skeletal dysplasias frequently cause a disproportionately short stature (dwarfism); the standing height falls below the third percentile for age (...) . Achondroplasia is the most common type of short-limb disproportionate dwarfism. [ ] The term achondroplasia, implying absent cartilage formation, was first used by Parrot in 1878. [ ] Although this term is inaccurate from a histopathologic perspective, its use is universal and is accepted by the International Working Group on Constitutional Diseases of the Bone. [ , , ] Next: Anatomy The bony skeleton is divided into two parts: the axial skeleton and the appendicular skeleton. The axial skeleton

2014 eMedicine Surgery

154. Aplastic Anemia (Overview)

that are associated not only with increased susceptibility to aplastic anemia but also with other physical findings. Fanconi anemia is characterized by the following: Multiple congenital anomalies (60-75%): Short stature, abnormal skin pigmentation, malformations of the thumbs with or without dysplastic or absent radii, as well as microphthalmos and malformations of the heart, kidneys, intestines, and ears Bone marrow failure: Thrombocytopenia, leukopenia, or aplastic anemia; most patients with Fanconi anemia (...) . These genes encode proteins that are part of the telomerase apparatus that restores repeated regions in the telomere. [ ] Cartilage-hair hypoplasia Cartilage-hair hypoplasia, which is caused by mutations in the RMRP gene, is inherited in an autosomal recessive manner. This condition is characterized by the following: Short stature with short and bowed limbs Sparse, lightly pigmented hair Variably severe immune deficiency Anemia during childhood Hematopoietic malignancies, as well as malignancies

2014 eMedicine.com

155. Ataxia with Identified Genetic and Biochemical Defects (Overview)

of such defects are as follows: [ ] Carnitine palmitoyltransferase-1 deficiency Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) Multiple-acyl-CoA dehydrogenase deficiency (glutaric aciduria type II) Primary systemic carnitine deficiency Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency Short-chain acyl-CoA dehydrogenase deficiency Trifunctional enzyme deficiency Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD) Clinical features Episodic vomiting Intermittent bouts of weakness, lethargy

2014 eMedicine.com

156. Growth Failure (Diagnosis)

and weight with a normal head circumference in an infant with growth hormone deficiency. A child is considered short if he or she has a height that is below the fifth percentile; alternatively, some define short stature as height less than 2 standard deviations below the mean, which is near the third percentile. Thus, 3-5% of all children are considered short. Many of these children actually have normal growth velocity. These short children include those with familial short stature or constitutional (...) familial short stature (37%), constitutional delay (27%), a combination of familial short stature and constitutional delay (17%), other medical causes (10%), idiopathic short stature (5%), growth hormone deficiency (3%), (3% of girls), and (0.5%). International Several studies have been conducted to determine the frequency of various causes of short stature. In 1974, Lacey and Parkin evaluated children in Newcastle upon Tyne in England. [ ] They studied 2256 children, 111 of whom were below the third

2014 eMedicine Pediatrics

157. Failure to Thrive (Diagnosis)

for these children. [ ] Another recent study from a multidisciplinary feeding program at a US medical school also reports that 90% of their referrals had nonorganic failure to thrive. While they described a very short follow-up, they also report that children who adhered to their basic instructions were able to quickly gain significantly more weight than those were “nonadherent.” However, the 25% of the cohort who were unable to follow directions, may also include children who had unidentified issues (...) until early school age. Growth charts Growth charts were developed by the NCHS based on data collected through the Third National Health and Nutrition Examination Survey. They have been used since 1977 and are available for males and females 0-36 months of age and 2-18 years of age. The growth charts for boys and girls 0-36 months of age include weight and height for age and head circumference; growth charts for both age groups include weight for stature. These charts have been revised

2014 eMedicine Pediatrics

158. Atrioventricular Block, Third Degree, Acquired (Diagnosis)

, and progressive cardiac conduction defects, including complete heart block. Other features may include ataxia, hearing loss, dementia, short stature, delayed secondary sexual characteristics, hypoparathyroidism, hypothyroidism, and peripheral neuropathy. The diagnosis is usually made clinically and by demonstration of ragged red fibers on skeletal muscle biopsy. Any progression in conduction abnormalities (such as from first- to second- degree AV block) is a clear indication for permanent pacemaker (...) involve the mitral and aortic valves, the central fibrous body, and the summit of the ventricular septum. Lenègre disease is thought to represent a primary sclerodegenerative disease of the conducting system with no involvement of the myocardium or fibrous skeleton of the heart. Intracardiac tumor Intracardiac tumors constitute a very rare cause of acquired complete AV block that occurs through invasion of the conduction system. [ ] The term cardiac mesothelioma refers to heterotopic epithelial

2014 eMedicine Pediatrics

159. Somatosensory Evoked Potentials: General Principles (Follow-up)

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. 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

To help you find the content you need quickly, you can filter your results via the categories on the right-hand side >>>>