Novel mutation in NIPAL4 in a Romanian family with autosomal recessive congenital ichthyosis.

Autosomal recessive congenital ichthyosis (ARCI), a severe and highly clinically heterogeneous group of mendelian disorders of cornification, is the result of mutations in at least nine genes regulating the epidermal barrier functionality. NIPAL4 is the second most frequently mutated ARCI gene. We report two adult patients from a nonconsanguineous family of Romanian origin, who had lamellar ichthyosis. A positive in situ transglutaminase 1 activity assay excluded a putative TGM1 mutation. NIPAL4 sequencing revealed in both patients a new homozygous missense mutation, c.403A>C, affecting a highly conserved amino acid (p. Ser135Arg) and predicted to be deleterious according to in silico analysis. In addition to the ARCI features, the patients had caries and partial edentation. Although delay in dental treatment led to caries progression and extraction of secondary teeth, this finding raises the possibility of a deficiency in enamel mineralization due to NIPAL4 dysfunction as an Mg(2+) transporter. Evaluating new patients with ARCI provides fruitful clinical and molecular findings.

Vascular endothelial growth factor: a possible mediator of endothelial activation in acute respiratory distress syndrome.

AIM: Vascular endothelial growth factor (VEGF) is a potent angiogenic and endothelial factor, which is abundantly found in the normal lung tissue. The objective of the study was to assess the VEGF levels in lung tissue and plasma in acute respiratory distress syndrome (ARDS) patients compared with controls who died from non-ARDS causes. METHODS: Plasma and tissue samples were prospectively collected from 20 patients with ARDS within 6 hours after intubation (VEGF in plasma and tissue samples) and on the day of extubation (plasma VEGF) or postmortem (lung tissue). We used an ELISA to measure the VEGF level in plasma. Lung specimens were obtained by bronchoscopic biopsy or by open biopsy during autopsy. All lung samples were stained for standard histopathological analysis and for immunohistochemical methods. Biomarker levels were compared between survivors (N=12), non-survivors (N=8) and controls (N=10). RESULTS: Compared with the levels in controls, in the early stages of ARDS, plasma VEGF levels rose and intrapulmonary levels fell, but during recovery, these levels went back to normal levels. CONCLUSION: The initial phase of ARDS is associated with a decrease in VEGF in the lung and an increase in the plasma. This down-regulation may represent a protective mechanism aimed at limiting endothelial permeability and may participate in the decrease in the capillary number that is observed during early ARDS. A persistent elevation of plasma VEGF over time predicts poor outcome.

[ A new technique for the treatment of varicose veins]. / O tehnica noua de tratament a varicelor.

UNLABELLED: The thoroughgoing study of the venous wall and venous flow using fundamental research and diagnostic techniques allowed us to apply new therapeutic methods in the primary varicose veins of the lower extremities (PVV). The aim of the present study is to present a relatively new method of conservative surgical treatment which combine the external valvuloplasty technique with the technique proposed by Franceschi (TF). MATERIAL AND METHOD: Between 1992-2000 we applied on 25 patients with PVV Mach II, the technique of external muffing of the long saphenous vein from its junction with the common femoral vein retrograde for 6-8 cm, for a venous diameter of 0.5 cm interrupting at the same time the long or the short ebbing (clinical and Doppler criterions). In 5 patients we performed the valvuloplasty using TF. The patients were annually evaluated; in the present we have a group of 10 patients up to 8 years after surgery. RESULTS AND CONCLUSIONS: 1. Conservative methods of external valvuloplasty associate with Franceschi technique have a solid physiopathologic and pathogenic basement. 2. The materials used for the external muffing (Dacron, PTTF, polyamide net) are very well tolerate. 3. Relapses were present in 8 years at 30% and in 5 years at 10% of the patients who undergo the operation.