Gitelman's syndrome is an autosomal recessive disorder marked by salt wasting and hypokalaemia resulting from loss-of-function mutations in the SLC12A3 gene that codes for the thiazide-sensitive Na-Cl cotransporter. Gitelman's syndrome is usually distinguished from Bartter's syndrome by the presence of both hypomagnesaemia and hypocalciuria. Although recent advances in molecular genetics may make it possible to both diagnose and differentiate these diseases, the phenotypes sometimes overlap. Here we report two sporadic cases of Gitelman's syndrome and two novel genotypes of SLC12A3. Patient 1 was a compound heterozygote with a known missense mutation, L849H, and a novel mutation, R852H in exon 22. Patient 2 was homozygous for the missense mutation L849H. To our knowledge, this is the first report of a patient homozygous for 849H. Interestingly, both patients were affected with autoimmune thyroid disease. Patient 1 was affected with Hashimoto's disease, and Patient 2 was affected with Graves' disease. The symptoms of Patient 2 were more serious than those of Patient 1. Although the patients both carried the 849H allele (Patient 1 as a heterozygote and Patient 2 as a homozygous), their clinical symptoms differed. The difference in the clinical features may have been due both to phenotypic differences and the fact that Gitelman's syndrome is a complicated disorder.
The quality of life of patients with depression after open-heart surgery is poor. The early administration of prophylactic medication is therefore necessary for those patients at risk for developing depression.
Purpose: Cystic adventitial artery disease is an uncommon non-atherosclerotic peripheral vessel disease. Furthermore cystic adventitial disease of the common femoral artery is an extremely rare entity. We report the case of a 54 year-old man complaining of intermittent claudication who was referred to our vascular service. Methods and Results: Doppler ultrasound and multidetector-row computed tomography (CT) with 3-dimensional volume rendering revealed severe stenosis with cystic an adventitial cyst in the common femoral artery. Intra-operative Doppler ultrasound showed the cyst to be multilocular type. Reversed great saphenous vein interposition was successfully placed. Conclusion: Removal of cyst together with artery and interposition using reversed great saphenous vein is the optimal treatment procedure to prevent recurrence.
We experienced a case in which a total arch replacement and an open stent implantation were performed for a distal aortic arch aneurysm using a newly developed stent graft (Ube CL-0201; Ube Medical, Tokyo, Japan). This novel stent graft is composed of a woven polyester graft and a nickel-titanium alloy stent, and has been under evaluation in clinical trials at four institutions in Japan, including our hospital, since 2008. The patient was weaned from the respirator on the day after surgery, and 9 months have passed since the surgery with no complications. A follow-up computed tomography scan showed that the stent part was sufficiently open, and no complications, such as an endoleak, have been observed.
We used to utilize the Linton procedure by directly approaching the abnormal skin of lipodermatosclerosis and ligating the incompentent perforating veins at the subfascial space in patients suffering from stasis syndrome, such as pigmentation or ulcer. However we often experienced postoperative wound complications when approaching abnormal skin directly. We have utilized the SEPS procedure since 1999. During this time, we were able to reduce such complications and many patients have experienced improvements in their abnormal skin. We explain the SEPS procedure based upon a case that we experienced.
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