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Medical Complications in Familial and Multifactorial Chylomicronaemia Syndromes

2019-04-17 12:53:14 | BioPortfolio

Published on BioPortfolio: 2019-04-17T12:53:14-0400

Clinical Trials [1037 Associated Clinical Trials listed on BioPortfolio]

Phase 2 Study of AKCEA-ANGPTL3-LRX (ISIS 703802) in Patients With Familial Chylomicronemia Syndrome (FCS)

This is a single center, open-label study to evaluate the efficacy of AKCEA-ANGPTL3-LRX for reduction of triglyceride (TG) levels in patients with Familial Chylomicronemia Syndrome (FCS) .

Volanesorsen Early Access Program for Patients With Familial Chylomicronemia Syndrome (FCS)

The purpose of this program is to provide expanded access to volanesorsen for up to 100 Patients with Familial Chylomicronemia Syndrome (FCS).

Study of ARO-APOC3 in Healthy Volunteers, Hypertriglyceridemic Patients and Patients With Familial Chylomicronemia Syndrome (FCS)

The purpose of this study is to evaluate the safety, tolerability, pharmacokinetics and pharmacodynamics of single- and multiple doses of ARO-APOC3 in healthy adult volunteers and in patie...

Plasma Triglyceride Lipolysis in Multifactorial Chylomicronemia

Purpose: The mechanism of most of the multifactorial chylomicronemia (MCM) remains elusive. In order to decipher the mechanisms involved in the occurrence of this disease, plasma TG lipoly...

Effect of Low-Fat Compared to Low-Carbohydrate Diet in Subjects With Multifactorial Chylomicronemia

Introduction. The multifactorial chylomicronemia ((MCM), also known as type V hyperlipoproteinaemia or mixed hyperlipidaemia) is an oligogenic or polygenic disorder that is associated with...

PubMed Articles [5058 Associated PubMed Articles listed on BioPortfolio]

Familial occurrence of carpal tunnel syndrome.

The objective of this study was to investigate the incidence of familial carpal tunnel syndrome in patients admitted to the authors' institution for carpal tunnel release. Questionnaires completed by ...

Intradural Extramedullary Thoracic Cavernoma in a Man with Familial Multiple Cavernomas.

Intradural extramedullary cavernomas are rare vascular malformations of the spine. Of the 40 previously described cases, four involved the upper thoracic spine and one was associated with familial mul...

Severe hyperchylomicronemia in two infants with novel APOC2 gene mutation.

Background Familial apo C-II deficiency is a rare hereditary disorder frequently caused by lipoprotein lipase (LPL) and APOC2 gene mutations. To date, less than 30 patients with familial apo C-II defi...

Risks of Colorectal Cancer and Cancer-Related Mortality in Familial Colorectal Cancer Type X and Lynch Syndrome Families.

The risk of cancers is well characterized in Lynch syndrome (LS) families but has been less studied in familial colorectal cancer type X (FCCTX) families.

Hemorrhage, seizures, and dynamic changes of familial versus non-familial cavernous malformation: systematic review and meta-analysis.

Cavernous malformations may be familial or nonfamilial. This systematic review compares the natural history of cavernous malformations in familial compared to non-familial cases.

Medical and Biotech [MESH] Definitions

A group of rare autosomal dominant diseases, commonly characterized by atypical URTICARIA (hives) with systemic symptoms that develop into end-organ damage. The atypical hives do not involve T-cell or autoantibody. Cryopyrin-associated periodic syndrome includes three previously distinct disorders: Familial cold autoinflammatory syndrome; Muckle-Wells Syndrome; and CINCA Syndrome, that are now considered to represent a disease continuum, all caused by NLRP3 protein mutations.

Primary immunodeficiency syndrome characterized by recurrent infections and hyperimmunoglobulinemia E. Most cases are sporadic. Of the rare familial forms, the dominantly inherited subtype has additional connective tissue, dental and skeletal involvement that the recessive type does not share.

Disorders of the peripheral nervous system associated with the deposition of AMYLOID in nerve tissue. Familial, primary (nonfamilial), and secondary forms have been described. Some familial subtypes demonstrate an autosomal dominant pattern of inheritance. Clinical manifestations include sensory loss, mild weakness, autonomic dysfunction, and CARPAL TUNNEL SYNDROME. (Adams et al., Principles of Neurology, 6th ed, p1349)

Clinically atypical nevi (usually exceeding 5 mm in diameter and having variable pigmentation and ill defined borders) with an increased risk for development of non-familial cutaneous malignant melanoma. Biopsies show melanocytic dysplasia. Nevi are clinically and histologically identical to the precursor lesions for melanoma in the B-K mole syndrome. (Stedman, 25th ed)

A heterogeneous group of primarily familial disorders characterized by myoclonic seizures, tonic-clonic seizures, ataxia, progressive intellectual deterioration, and neuronal degeneration. These include LAFORA DISEASE; MERRF SYNDROME; NEURONAL CEROID-LIPOFUSCINOSIS; sialidosis (see MUCOLIPIDOSES), and UNVERRICHT-LUNDBORG SYNDROME.

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