Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia

Journal of Neurology - STUB1 has been first associated with autosomal recessive (SCAR16, MIM# 615768) and later with dominant forms of ataxia (SCA48, MIM# 618093). Pathogenic variations in STUB1...     

Radiofrequency treatment induces fibroblast growth factor 2 expression and subsequently promotes neocollagenesis and neoangiogenesis in the skin tissue

Radiofrequency (RF) treatment appears to be involved in production of new collagen fibrils and the improvement of existing collagen structures; however, the molecular bases of the effect of non-invasive RF on the skin tissue have not been fully elucidated. This study reports the effects of RF associated or not with hydrolyzed collagen (HC) in the skin tissue. Wistar rats were randomly divided into four groups, according to the treatment received: control group (G1, n = 5), no treatment; subjects in group G2 (n = 5) were treated with HC; and capacitive RF was applied to the back of each subject in G3 (n = 5) and RF associated with HC in G4 (n = 5). Biopsies were taken 30 days after treatment and then were histologically processed and studied for inflammatory cell counting, collagen content, and morphometry. In addition, FGF2, CD105, and COX-2 expression was assessed by immunohistochemical staining. The most relevant changes were the increase in cellularity and accumulation of intercellular substance in RF-treated animals (G3 and G4). The greatest dermis thickness rate was observed in G4, followed by G3 and G2 (p < 0.05). RF-treated skins (G3 and G4) exhibited a significant overexpression of FGF2 (p < 0.0001) and increased microvessel density (p < 0.0001) in comparison with G1 and G2. Moreover, the amount of COX-2 was significantly higher (p < 0.0001) in dermis of RF-treated areas compared to G1 and G2, and demonstrated differences in G3 (RF) compared to G4 (RF + HC) (p < 0.0001). Our results suggests that RF treatment associated or not with HC induces FGF2 overexpression, promotes neoangiogenesis and modulates the COX-2 expression, subsequently promotes neocollagenesis, and increased thickness rate of dermis.     

Cardiac malpositions. Apropos of 5 observations in the neonatal period]

Five cases of cardiac malpositions, discovered in the neonatal period, with early death are reported. The determination of the position of the cardiac cavities is essential for appropriate studies of angiocardiograms and appreciation of the possibilities of surgical treatment.     

Primary coronary fistulas. Angiographic study of 21 cases

A retrospective study of 21 cases of congenital primary coronary fistulae and a review of the literature underline the exceptional features of 2 of our cases and recall the main features of coronary fistulae. Coronary angiography (18 cases) or aortography (3 cases) confirmed the diagnosis in our 21 cases. Six of them involved the right coronary artery, 12 the left one, and 3 the two coronary arteries. Seven of them involved the right heart (2 right atrium, 5 right ventricle), 11 the main pulmonary artery, 2 the left heart (the left ventricle in both cases), and the last case was a coronaro-bronchial fistula. Our series comprised 11 men and 10 women; the mean age was 33 (range: 4 days to 67 years of age). The main presenting features were: murmur (7 cases), angina (7 cases), angina (7 cases), Stage II or III dyspnoea (5 cases). Clinical examination showed a systolic-diastolic murmur in 12 cases and a systolic murmur in one case. The chest X ray showed signs of left to-right shunt in 6 cases. The right heart catheterisation of 16 of the 19 left-to-right shunts confirmed the shunt in 9 cases. The 7 cases of coronaro-right cardiac fistulae drained directly (4 cases), by aneurysmal dilatation with diaphragm (3 cases); the 2 cases of coronaro-left-ventricular fistulae drained via microfistulae; the 11 cases of proximal coronaro-pulmonary fistulae drained mostly by an angiomatous plexus (9 cases).(ABSTRACT TRUNCATED AT 250 WORDS)