Advertisement

Topics

Genetic Testing in Primary Congenital Glaucoma Patients

2014-10-03 16:35:44 | BioPortfolio

Published on BioPortfolio: 2014-10-03T16:35:44-0400

Clinical Trials [328 Associated Clinical Trials listed on BioPortfolio]

Screening for Genes in Patients With Congenital Neutropenia

Syndromic congenital neutropenia (SCN) includes a heterogeneous group of diseases characterized by congenital neutropenia associated with the involvement of other organs. Most patients hav...

Assesment of Olfactory Disorders and Performance of a New Olfactory Test in Children With Congenital CMV

CMV lesions were found in the olfactory system of children with congenital CMV infection but no study has hitherto examined the impact of congenital CMV infection on olfaction. So the inve...

Prospective Study of the Diagnostic and Therapeutic Management of Congenital Glaucoma in France

Evidence of a relationship between age at discovery of congenital glaucoma and visual acuity at 4 years of age. The delay in diagnosis is a factor of poor visual acuity. Will justify the ...

Compassionate Use of SOM230 for Hyperinsulinemic/Hypoglycemia

Congenital hyperinsulinism is a rare condition that can cause life-threatening hypoglycemia. Current treatment for congenital hyperinsulinism is often suboptimal, and such individuals may ...

Efficacy and Safety of Tideglusib in Congenital Myotonic Dystrophy

This is a randomized, multicenter, double-blind, placebo-controlled, Phase 2/3 study of patients (aged 6 to 16 years) diagnosed with Congenital Myotonic Dystrophy (Congenital DM1).

PubMed Articles [1245 Associated PubMed Articles listed on BioPortfolio]

Congenital tracheal malformations.

Congenital malformations of the trachea include a variety of conditions that cause respiratory distress in neonates and infants. A number of anomalies are self-limiting while others are life-threateni...

A novel deletion downstream of the PAX6 gene identified in a Chinese family with congenital aniridia.

Congenital aniridia, a severe bilateral panocular visual disorder, is an autosomal dominantly inherited eye anomaly. Mutations in the paired box 6 gene (PAX6) have been shown to be responsible for con...

Angiosarcoma arising from congenital primary lymphedema.

We herein report the case of a 3-year-old girl with atypical congenital right upper limb lymphedema who developed an angiosarcoma. Only a few cases have been reported following congenital form of lymp...

Congenital Calvarial Hemangioma.

The authors describe a case of congenital calvarial hemangioma successfully managed using propranolol therapy. Presenting symptoms, radiological and pathological features, differential diagnosis, and ...

Mortality for Critical Congenital Heart Diseases and Associated Risk Factors in Newborns. A Cohort Study.

Congenital heart diseases are the most common type of congenital defects, and account for more deaths in the first year of life than any other condition, when infectious etiologies are ruled out.

Medical and Biotech [MESH] Definitions

Rare congenital disorder of connective tissue characterized by brachydactyly, joint stiffness, childhood onset of ocular abnormalities (e.g., microspherophakia, ECTOPIA LENTIS; GLAUCOMA), and proportionate short stature. Cardiovascular anomalies are occasionally seen.

A cytochrome P450 aryl hydrocarbon hydroxylase that has specificity for ESTROGENS which it converts into 4-hydroxy estrogens. CYP1B1 has been shown to be physiologically important for FETAL DEVELOPMENT with mutations in the CYP1B1 gene resulting in congenital forms of GLAUCOMA and Peter's anomaly.

A non-inherited congenital condition with vascular and neurological abnormalities. It is characterized by facial vascular nevi (PORT-WINE STAIN), and capillary angiomatosis of intracranial membranes (MENINGES; CHOROID). Neurological features include EPILEPSY; cognitive deficits; GLAUCOMA; and visual defects.

Atrophy of the optic disk which may be congenital or acquired. This condition indicates a deficiency in the number of nerve fibers which arise in the RETINA and converge to form the OPTIC DISK; OPTIC NERVE; OPTIC CHIASM; and optic tracts. GLAUCOMA; ISCHEMIA; inflammation, a chronic elevation of intracranial pressure, toxins, optic nerve compression, and inherited conditions (see OPTIC ATROPHIES, HEREDITARY) are relatively common causes of this condition.

A cloprostenol derivative that is used as an ANTIHYPERTENSIVE AGENT in the treatment of OPEN-ANGLE GLAUCOMA and OCULAR HYPERTENSION.

More From BioPortfolio on "Genetic Testing in Primary Congenital Glaucoma Patients"

Advertisement
Quick Search
Advertisement
Advertisement

 

Searches Linking to this Trial