Ecocardiografia em «Cor Triatriatum Dexter»

"Cor triatriatum dexter" (CTD) is an unusual cyanotic cardiac defect in which the right atrium is subdivided into two distinct chambers due to the persistence of the "sinus venosus" valve. Two patients with CTD ho were evaluated and treatment in 1979 and 1992 are described: the first one, had total anomalous pulmonary venous return to the coronary sinus or "cor triatriatum sinister" as preoperative diagnosis based on M-mode echocardiographic findings. The presence of a membrane inside the right atrium was suspected on cineangiogram. The other one had a preoperative diagnosis of CTD. Anatomic relationships and physiological effects were established by two dimensional and Doppler ultrasonography and confirmed at cardiac catheterization and surgery. High resolution two dimensional echocardiography coupled with Doppler ultrasonography has a definite role in the study of this heart defect.

Neuromyelitis Optica in Portugal (NEMIPORT) - A Multicentre Study

BACKGROUND: Neuromyelitis Optica (NMO) is an inflammatory demyelinating disease of the CNS. There have been few epidemiologic studies on NMO, none in Portugal. OBJECTIVE: To analyze the clinical, biological and MRI characteristics from a cohort of Portuguese patients who fulfilled the Wingerchuk 2006 NMO/NMOSD criteria. To identify and characterize those who had concomitant autoimmune disease or circulating autoantibodies. METHODS: We performed an observational, retrospective, multicenter study in 5 Hospital Centers in Portugal. RESULTS: Sixty-seven patients fulfilled the inclusion criteria. They were mainly Caucasian, 55 female. Median age at onset was 32.0 years and mean follow-up 7.4±6.0 years. Twenty-one patients were definite NMO and optic neuritis (ON) the most frequent initial presentation. Forty-six were classified as NMO spectrum disorders. The main subtypes were recurrent ON and single longitudinally extensive transverse myelitis. Twenty-four patients had positive AQP4-IgG. Twenty-three had other circulating autoantibodies. Fifteen out of 67 patients had concomitant autoimmune disease. There was a significant correlation between the presence of autoimmune disease and the positivity for AQP4-IgG. Five patients died, all definite NMO. CONCLUSION: This is the first study about this rare disease in Portugal. Demographic features were similar to other studies. The existence of concomitant autoimmune disease was significantly associated with seropositivity for AQP4-IgG.

Iron Overload in a Murine Model of Hereditary Hemochromatosis Is Associated with Accelerated Progression of Osteoarthritis Under Mechanical Stress

OBJECTIVE: Hereditary hemochromatosis (HH) is a disease caused by mutations in the Hfe gene characterised by systemic iron overload and associated with an increased prevalence of osteoarthritis (OA) but the role of iron overload in the development of OA is still undefined. To further understand the molecular mechanisms involved we have used a murine model of HH and studied the progression of experimental OA under mechanical stress. DESIGN: OA was surgically induced in the knee joints of 10-week-old C57BL6 (wild-type) mice and Hfe-KO mice. OA progression was assessed using histology, micro CT, gene expression and immunohistochemistry at 8 weeks after surgery. RESULTS: Hfe-KO mice showed a systemic iron overload and an increased iron accumulation in the knee synovial membrane following surgery. The histological OA score was significantly higher in the Hfe-KO mice at 8 weeks after surgery. Micro CT study of the proximal tibia revealed increased subchondral bone volume and increased trabecular thickness. Gene expression and immunohistochemical analysis showed a significant increase in the expression of matrix metallopeptidase 3 (MMP-3) in the joints of Hfe-KO mice compared with control mice at 8 weeks after surgery. CONCLUSIONS: HH was associated with an accelerated development of OA in mice. Our findings suggest that synovial iron overload has a definite role in the progression of HH-related OA

Porokeratosis Ptychotropica of the Scrotum: Dermoscopic Evaluation of an Atypical Presentation

Porokeratosis ptychotropica is a rare variant of porokeratosis that is classically located on the gluteal and perianal regions, seldom extending to the genitalia. The authors report an atypical presentation of porokeratosis ptychotropica and discuss the use of dermoscopy in evaluating this dermatosis. Dermoscopic findings, although not specific to this variant of porokeratosis, are helpful in the differential diagnosis of other genital disorders. Histopathology, through the visualization of multiple cornoid lamellae, prevails as the gold standard for the definite diagnosis of porokeratosis ptychotropica.