Charcot-Marie-Tooth disease type 1A: association with a spontaneous point mutation in the PMP22 gene

Article Abstract:

Researchers have identified an additional gene mutation that can cause Charcot-Marie-Tooth (CMT) disease type 1. CMT is a degenerative nerve disease that leads to increasing weakness of the hands, feet and legs. Type 1A is the most common form of CMT and is associated with a duplication of part of the PMP22 gene. Molecular analysis of the DNA of 32 patients with CMT type 1, but without the duplication associated with type 1A, indicated that there is another mutation on the PMP22 gene that can cause CMT. It is a point mutation in which one amino acid is substituted for another. The PMP22 gene produces a myelin protein, which is a component of the myelin sheath that surrounds nerves. Because nerve conduction studies and clinical findings for type 1 and type 1A patients are similar regardless of which mutation is present, the only way to determine which mutation is responsible is by molecular analysis.

Genetic aspects, Charcot-Marie-Tooth disease

---

Intravenous albumin for spontaneous bacterial peritonitis in patients with cirrhosis

Article Abstract:

Intravenous albumin may reduce the risks of kidney failure and death in patients with liver cirrhosis and spontaneous bacterial peritonitis. Liver failure in cirrhosis patients appear to result from inadequate blood flow to the kidneys. Expansion of the blood volume with albumin, a plasma protein derived from human blood, may improve kidney perfusion and better maintain kidney function. The high cost of albumin, however, argues for additional research to determine the right dose of albumin for effective therapy, and the particular patients most likely to benefit.

Editorial, Statistical Data Included, Evaluation, Complications and side effects, Drug therapy, Peritonitis, Liver cirrhosis, Acute renal failure, Acute kidney failure, Albumin

---

Luteinizing hormone beta mutation and hypogonadism in men and women

Article Abstract:

The clinical characteristics of a consanguineous family wherein three siblings, two men and one woman, had hypogonadism linked to isolated luteinizing hormone deficiency is presented.

Health aspects, Risk factors, Hypogonadism, Luteinizing hormone

Similar abstracts:

• Abstracts: Oligohydramnios associated with prostaglandin synthetase inhibitors in preterm labour
• Abstracts: Improved speed and accuracy of calculations with a programmable calculator in pediatric emergency scenarios. Pediatric extracorporeal membrane oxygen: the time for anecdotes is over
• Abstracts: Babies need their mothers beside them! Vaccinations: mothers require motivation. Fresh hope for Paraguayan mothers: illegal abortion is a major problem in Paraguay, where abortion is illegal in all circumstances, even to save the life of the mother
• Abstracts: The promise of nurse practitioners. Describing and analyzing constipation in acute care
• Abstracts: Child care crisis especially acute for women doctors. Doctors weather Isabel and respond in its wake. Doctors create a place for kids to reach out and touch

This website is not affiliated with document authors or copyright owners. This page is provided for informational purposes only. Unintentional errors are possible.