Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations.

Background: Mutations in the transforming growth factor beta receptor type I and II genes (TGFBR1 and TGFBR2) cause Loeys-Dietz syndrome (LDS), characterised by thoracic aortic aneurysms and dissections (TAAD), aneurysms and dissections of other arteries, craniosynostosis, cleft palate/bifid uvula, hypertelorism, congenital heart defects, arterial tortuosity, and mental retardation. TGFBR2 mutations can also cause TAAD in the absence of features of LDS in large multigenerational families, yet only sporadic LDS cases or parent-child pairs with TGFBR1 mutations have been reported to date.

Methods: The authors identified TGFBR1 missense mutations in multigenerational families with TAAD by DNA sequencing.

Adrenal insufficiency following traumatic brain injury in adults.

Purpose Of Review: Hypoadrenalism occurs in approximately 25% of patients soon after traumatic brain injury. Neurosurgeons or critical care physicians should be prepared to diagnose and treat this and other related hormonal deficiencies.

Recent Findings: The severity of traumatic brain injury, location of basilar skull fractures and edema or hemorrhage within the hypothalamic-pituitary axis appear correlated with secondary adrenal failure.

Endocrine failure after traumatic brain injury in adults.

Objective: To review histopathological and clinical data linking endocrine failure to traumatic brain injury (TBI) during acute neurosurgical treatment and rehabilitation.

Methods: A focused search of the Medline (PubMed) medical literature database and the authors' files were used to identify selected publications.

Results: Endocrine failure may produce clinically important consequences during acute and convalescent care after TBI, and may be caused by direct injury to the hypothalamic- pituitary axis (HPA), neuroendocrinological effects from catecholamines and cytokines, or from systemic infection/inflammation that produces primary gland failure.

Characterization of an aquaporin-2 water channel gene mutation causing partial nephrogenic diabetes insipidus in a Mexican family: evidence of increased frequency of the mutation in the town of origin.

A Mexican family with partial congenital nephrogenic diabetes insipidus (NDI) that resulted from a mutation in the aquaporin-2 water channel (AQP2) was characterized, and the source of this rare mutation was traced to the family's town of origin in Mexico. Affected individuals with profound polyuria and polydipsia were homozygous for an autosomal recessive missense V168M mutation in the AQP2 gene. Expression in oocytes revealed that, although retained in the endoplasmic reticulum (ER) to a great extent, a considerable amount of the partially functional AQP2-V168M was expressed at the plasma membrane, and that its ER retention was less than AQP2-T126M, a functional mutant in severe recessive NDI.

Severe reversible dilated cardiomyopathy and hyperthyroidism: case report and review of the literature.

Objective: To describe a case of a 46-year-old woman with Graves' disease and reversible low-output congestive heart failure and present a comparative analysis of 23 similar cases reported in the literature.

Methods: A detailed case report is presented. In addition, a review of the pertinent literature published between 1960 and 2002 was performed to identify similar cases of dilated cardiomyopathy and thyrotoxicosis and to assess the findings in these patients.