Rapid disease progression in adult-onset mitochondrial membrane protein-associated neurodegeneration.

Neurodegeneration with brain iron accumulation (NBIA) comprises a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by progressive degeneration of the central nervous system and high basal ganglia iron deposition. The list of identified causative genes for NBIA syndromes continues to expand and includes one autosomal dominant, one X-linked, and a number of recessive forms. Mitochondrial membrane protein-associated neurodegeneration is a recently described NBIA syndrome caused by C19orf12 mutations. In this study, we report two consanguineous families with a homozygous C19orf12 p.Thr11Met mutation. Our patients presented at a later age and had more rapid disease progression, leading to early death in two, than those previously reported. We conclude that C19orf12 mutation is associated with wide phenotypic heterogeneity, and that further research is needed to examine the role of C19orf12 in NBIA and related diseases and to elucidate its protein function as well as other factors that may affect disease progression and expression.

Brain Death and Organ Donation: Knowledge, Awareness, and Attitudes of Medical, Law, Divinity, Nursing, and Communication Students.

BACKGROUND: Throughout the world, there is a shortage of suitable organs for organ transplantation. The aim of this study was to assess the level of knowledge, awareness, and attitudes of medical, law, divinity, nursing, and communication students, who will be involved in this issue in the future, regarding brain death and organ donation. METHODS: Data were collected with the use of a 30-item questionnaire. RESULTS: Of the 341 participants, 228 (66.8%) were female and overall average age was 21.6 ± 2.8 years. Nearly one-half of them (51.3%), especially nursing and medical students, wanted to be a donor, but only 2% had an organ donation card; 78.3% emphasized that family must have the right to make the decision for organ donation, and the vast majority of the participants considered that the organs could not be taken without any permission. Kidney and heart were the most commonly identified transplantable organs; the less frequently known organ was intestine. Only 71 participants, most of them medical, divinity, and law students, correctly answered all questions about brain death; 68.6% stated that organ donation is allowed by religion, and 5% expressed that it is religiously forbidden; 37.3% did not have confidence in health care policy. Law students were more confident, nursing students less confident. CONCLUSIONS: Better understanding of organ donation and concepts by the doctors, nurses, legislators, religious officials, and mass communications professionals who will give direction to society's behaviors and beliefs would help to spread positive attitudes toward organ donation and transplantation in the public.

Hypokalemic paralysis in association with acute gastroenteritis: a report of a sporadic case.

Hypokalemic periodic paralysis is a condition, characterized by episodic weakness of the skeletal muscle. It may be presented as familial or sporadic (secondary). In sporadic cases, the patient may present with paralysis without any previous self or familial history. It is known that these patients are more susceptible to hypokalemia than normal individuals. In low serum K+ concentrations that the normal population can tolerate, these patients may easily suffer from paralysis. A sporadic case of hypokalemic quadriparesis associated with acute gastroenteritis without any self or family history is reported. The patient had experienced two episodes of quadriparesis within a short interval and responded dramatically to potassium replacement therapy.