Atrial Septal Defect (ASD) is one of the most frequently congenital heart diseases in adults and it is often asymptomatic until adulthood. We report a case of a 90-year-old woman admitted to hospital with dyspnea and orthopnea insidiously progressing over the preceding 5 years and becoming severe with dyspnea on minimal activities, orthopnea and paroxysmal nocturnal dyspnea, in the last 2 weeks. The transthoracic echocardiogram revealed an atrial septal defect ostium secundum type, with left-to-right shunt, moderate to severe tricuspid insufficiency, severe pulmonary hypertension (72 mmHg) and preserved biventricular function. With diuretic therapy optimization the patient showed symptomatic improvement. This present case represents and unusual and very late presentation of an atrial septal defect ostium secundum type, which is usually diagnosed at the mild adult age. Our patient lived symptom-free for over 80 years.

A hypotonic newborn or infant with pale skin and sparse, friable, hypopigmented, or depigmented hair should have his copper and ceruloplasmin plasma levels evaluated because this is the usual clinical presentation of Menkes disease. Menkes disease is an X-linked recessive disease caused by a defect in the ATP7A gene, identified in 95% to 98% of the cases. Identifying the mutation confirms the diagnosis and allows for prenatal counseling and diagnosis in a future pregnancy. When administered within the first few months of life, copper histidinate, given subcutaneously in a dose of 50 to 150 mg/kg per day, appears to be effective not only by increasing life expectancy from 3 to 13 years but also by improving neurologic symptoms and neurodevelopmental outcomes in approximately 30% of the patients.

No abstract

No abstract

Submit Manuscript | http://medcraveonline.com Avascular necrosis occurs in about 3% of cases, predominantly in the proximal pole. There are a number of techniques described with different types of grafts (vascularized and non-vascularized). Matti1 in 1936 developed the technique in which by dorsal approach it crossed the proximal and distal fragments of the scaphoid and filled with spongy bone graft. Russe 2 modified the Matti technique when using the via volar to preserve the vascularization of the scaphoid and to fill with sponge graft in a single block.The purpose of this technical note is to describe the modified Matti-Russe procedure performed by arthroscopic route and percutaneous volar screw fixation. Technical NoteCase report on a 21-year-old patient with scaphoid neck pseudarthrosis with three years of evolution and with an MRI that does not reveal avascular necrosis of the proximal pole ( Figures 1 & 2).The patient was placed in the supine position with a club at the root of the arm. The anesthestic technique was loco-regional block. Than, the arthroscopic arthroscopy system was assembled with 6Kg traction (Figure 3).The arthroscopic procedure started with the realization of standard radio-carpic initial portals; medium-carpal portals helped with the identification of the pseudarthrosis focus (Figure 4). The pseudarthrosis focus was blown out ( Figures 5 & 6). The spongious graft of the contralateral iliac crest was harvested. Placement of the graft through the midcarpal portal of visualization by adapting the arthroscopy trocar ( Figures 7-9). The traction was withdrawn. The graft was fixated with a percutaneous anterior approach and arthroscopic support and placement of the double compression screw with radiographic support (Figure 10). AbstractOpen surgical treatment with a bone graft is considered the gold standard for the treatment of scaphoid pseudarthrosis. Arthroscopic bone fixation with bone graft placement is a minimally invasive method, which is effective and with few associated complications. To describe an arthroscopic technique for the treatment of scaphoid pseudarthrosis. The arthroscopic treatment of stable scaphoid pseudarthrosis is an effective alternative to conventional open treatment.