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Constitutional Short Stature

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161. Dermatologic Manifestations of Cardiac Disease (Diagnosis)

cause. Often, more than one etiologic component must be addressed in management. Baldness, Thoracic Hairiness, and Earlobe Crease Baldness, short stature, thoracic hairiness, and diagonal earlobe crease are found in some patients with atherosclerosis. They have been associated with an increased incidence of coronary heart disease. The mechanism is unclear. Genetic abnormalities may be responsible. [ ] Diagonal earlobe crease Reports based on coronary angiographic studies and postmortem examinations (...) with cyanotic congenital heart diseases (eg, tetralogy of Fallot, Eisenmenger syndrome). It is also seen in persons with infective endocarditis. The differential diagnosis may include hereditary, idiopathic, constitutional, or acquired conditions. The acquired causes include pulmonary conditions (ie, primary and metastatic lung cancer, bronchiectasis, lung abscess, cystic fibrosis, mesothelioma) or gastrointestinal diseases (ie, regional enteritis, ulcerative colitis, cirrhosis). Schematic representation

2014 eMedicine.com

162. Bone Marrow Failure (Diagnosis)

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

163. 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

164. Amenorrhea, Primary (Diagnosis)

the gonad during organogenesis. The gonads usually contain only fibrous tissue and are called streak gonads. In females, the most common form of gonadal dysgenesis is Turner syndrome (45,X), in which gonadotropin levels, especially the FSH levels, are high during early childhood and after age 9-10 years. Additional anomalies associated with Turner syndrome include short stature, webbed neck, coarctation of the aorta (10%), renal abnormalities (50%), hypertension, pigmented nevi, short forth metacarpal (...) the point at which oligomenorrhea becomes amenorrhea. Some authors suggest the absence of menses for 6 months constitutes amenorrhea, but the basis for this recommendation is unclear. For a post-menarchal girl or a reproductive-aged woman to experience a menstrual cycle interval of more than 90 days is statistically unusual. Practically speaking, this should be an indication for an evaluation to seek the cause. Next: Pathophysiology The menstrual cycle is an orderly progression of coordinated hormonal

2014 eMedicine.com

165. Ataxia with Identified Genetic and Biochemical Defects (Diagnosis)

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

166. Aplastic Anemia (Diagnosis)

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

167. Osteoporosis in Solid Organ Transplantation (Treatment)

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

168. Somatosensory Evoked Potentials: General Principles (Treatment)

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

169. Ataxia with Identified Genetic and Biochemical Defects (Treatment)

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

170. Infertility (Treatment)

. 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

171. Retinitis Pigmentosa (Overview)

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

172. 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

173. 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

174. 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

175. Amenorrhea, Primary (Overview)

the gonad during organogenesis. The gonads usually contain only fibrous tissue and are called streak gonads. In females, the most common form of gonadal dysgenesis is Turner syndrome (45,X), in which gonadotropin levels, especially the FSH levels, are high during early childhood and after age 9-10 years. Additional anomalies associated with Turner syndrome include short stature, webbed neck, coarctation of the aorta (10%), renal abnormalities (50%), hypertension, pigmented nevi, short forth metacarpal (...) the point at which oligomenorrhea becomes amenorrhea. Some authors suggest the absence of menses for 6 months constitutes amenorrhea, but the basis for this recommendation is unclear. For a post-menarchal girl or a reproductive-aged woman to experience a menstrual cycle interval of more than 90 days is statistically unusual. Practically speaking, this should be an indication for an evaluation to seek the cause. Next: Pathophysiology The menstrual cycle is an orderly progression of coordinated hormonal

2014 eMedicine.com

176. 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

177. Osteoporosis in Solid Organ Transplantation (Overview)

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

178. 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

179. Dermatologic Manifestations of Cardiac Disease (Overview)

cause. Often, more than one etiologic component must be addressed in management. Baldness, Thoracic Hairiness, and Earlobe Crease Baldness, short stature, thoracic hairiness, and diagonal earlobe crease are found in some patients with atherosclerosis. They have been associated with an increased incidence of coronary heart disease. The mechanism is unclear. Genetic abnormalities may be responsible. [ ] Diagonal earlobe crease Reports based on coronary angiographic studies and postmortem examinations (...) with cyanotic congenital heart diseases (eg, tetralogy of Fallot, Eisenmenger syndrome). It is also seen in persons with infective endocarditis. The differential diagnosis may include hereditary, idiopathic, constitutional, or acquired conditions. The acquired causes include pulmonary conditions (ie, primary and metastatic lung cancer, bronchiectasis, lung abscess, cystic fibrosis, mesothelioma) or gastrointestinal diseases (ie, regional enteritis, ulcerative colitis, cirrhosis). Schematic representation

2014 eMedicine.com

180. Dermatologic Manifestations of Cardiac Disease (Treatment)

cause. Often, more than one etiologic component must be addressed in management. Baldness, Thoracic Hairiness, and Earlobe Crease Baldness, short stature, thoracic hairiness, and diagonal earlobe crease are found in some patients with atherosclerosis. They have been associated with an increased incidence of coronary heart disease. The mechanism is unclear. Genetic abnormalities may be responsible. [ ] Diagonal earlobe crease Reports based on coronary angiographic studies and postmortem examinations (...) with cyanotic congenital heart diseases (eg, tetralogy of Fallot, Eisenmenger syndrome). It is also seen in persons with infective endocarditis. The differential diagnosis may include hereditary, idiopathic, constitutional, or acquired conditions. The acquired causes include pulmonary conditions (ie, primary and metastatic lung cancer, bronchiectasis, lung abscess, cystic fibrosis, mesothelioma) or gastrointestinal diseases (ie, regional enteritis, ulcerative colitis, cirrhosis). Schematic representation

2014 eMedicine.com

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