1/58. Compound heterozygosity for one novel and one recurrent mutation in a Thai patient with severe protein s deficiency.Homozygous or compound heterozygous protein S (PS) deficiency is a very rare disorder in the anticoagulant system, that can lead to life-threatening thrombotic complications shortly after birth. This report describes the results of the genetic analysis of the PROS 1 genes in a Thai girl patient. She was reported in 1990 as the first case with homozygous PS deficiency and neonatal purpura fulminans. In the present report, we identified the mutations in this patient by direct sequencing of PCR products representing all 15 exons of the PROS 1 gene and their flanking intronic regions. The patient turned out to be compound heterozygous for two null mutations. One allele contained a novel sequence variation, an A-insertion in an A5-tract covering codon 146 and 147, that results in a frameshift and a stop codon (TAA) at position 155. The other allele contained a nonsense mutation in exon 12 by a transition at codon 410 CGA (Arg) to TGA (stop). Cosegregation of PS deficiency with these two genetic defects was observed in her family.- - - - - - - - - - ranking = 1keywords = tract (Clic here for more details about this article) |
2/58. Low serum C3, leukopenia, and thrombocytopenia: unusual features of henoch-schonlein purpura.Henoch-Schonlein purpura (HSP) affects predominantly the skin, joints, gastrointestinal tract and kidney. Although the pathogenesis is probably of immune origin and complement activation is thought to play a role, laboratory findings including the serum level of the complement components are usually normal. We present a patient with a severe form of HSP nephritis who had unusual laboratory findings of a low level of C3, mild leukopenia and thrombocytopenia. These findings may further support the importance of complement activation in the pathogenesis of HSP.- - - - - - - - - - ranking = 1keywords = tract (Clic here for more details about this article) |
3/58. Gastrointestinal lesions in an adult patient with Henoch-Schonlein purpura.A 28 year-old man was admitted because drug toxication, due to a high dose of antipsychotic drugs, presented purpuric rash on both legs, lower abdominal pain, arthralgia, and fresh-bloody stool. colonoscopy observed numerous small ring-like petechiae in the rectum and in the sigmoid colon. Upper gastrointestinal endoscopy found a few petechiae in the antrum of the stomach and in the duodenal second portion. He was treated with coagulation factor x III after admission. After 38 days, there was no abnormal mucosa in the colorectum, the duodenal second portion, or the antrum of the stomach. The disappearance of gastrointestinal lesions correlated with the course of the illness. Gastrointestinal tracts should be thoroughly observed in patients with Henoch-Schonlein purpura.- - - - - - - - - - ranking = 1keywords = tract (Clic here for more details about this article) |
4/58. Relapsing Henoch-Schonlein purpura associated with pseudomonas aeruginosa pyelonephritis.Henoch-Schonlein purpura is a systemic vasculitis of unknown cause. It is frequently triggered by a streptococcal upper respiratory tract infection. Other bacteria have been implicated as triggering agents. We report a recurring case of Henoch-Schonlein purpura in a patient with Pseudomonas pyelonephritis. The Henoch-Schonlein purpura remitted only when the infection was eradicated. Pseudomonas infection should be added to the list of bacteria that can trigger Henoch-Schonlein purpura.- - - - - - - - - - ranking = 9032.1570187748keywords = upper respiratory tract infection, respiratory tract infection, upper respiratory tract, respiratory tract, tract infection, tract, upper (Clic here for more details about this article) |
5/58. Large annular purpura and paraneoplastic purpura in a patient with sjogren's syndrome and cervical cancer.We report a 79-year-old female with anaphylactoid purpura on her legs and unusual large annular purpura on the trunk. Histopathological characteristics of leukocytoclastic vasculitis were observed in the upper and middle dermis of both types of skin lesions. She was complicated by sjogren's syndrome and advanced cervical cancer. The annular purpura spontaneously resolved in a week and did not recur. However, the anaphylactoid purpura relapsed more frequently and spread more widely following the elevation of her serum SCC antigen levels from the onset of purpura until her death. We consider that the characteristic annular configuration was caused by the complication of sjogren's syndrome and that the recurrent anaphylactoid purpura indicated paraneoplastic vasculitis primarily caused by the tumor specific protein immune complexes. Complication by Sjogren's syndrome many also play a role in the development of allergic vasculitis.- - - - - - - - - - ranking = 0.14469819300269keywords = upper (Clic here for more details about this article) |
6/58. The use of simultaneous free latissimus dorsi tissue transfers for reconstruction of bilateral upper extremities in a case of purpura fulminans.We report a case of extensive purpura fulminans destroying the soft tissue over the posterior aspect of both elbows. Simultaneous, bilateral free latissimus dorsi muscle transfers were used to close both wounds in a single procedure. The wounds resulting from severe purpura fulminans can be extensive and limb threatening. The simultaneous transfer of 2 free flaps can provide expeditious soft tissue repair while minimizing the risk of repeat anesthesia in these critically ill patients. We found that certain details concerning planning and performing the procedure fostered its successful outcome.- - - - - - - - - - ranking = 0.57879277201077keywords = upper (Clic here for more details about this article) |
7/58. Acute scrotum in Henoch-Schonlein purpura.Henoch-Schonlein purpura (HSP) is a systemic vasculitis with manifestations usually involving the skin, gastrointestinal tract, kidney and joints. epididymitis is rarely seen as a complication of HSP. It is easily misdiagnosed as testicular torsion, causing the patient to undergo unnecessary surgery, because the patient may have complained of severe scrotal pain and swelling. We report a 5-year-old boy who was suffering from HSP associated with acute scrotal pain and swelling of the left testicle. No gastrointestinal signs were noted but severe joint pain, swelling and palpable skin lesions in the lower limbs and the buttocks were found. prednisolone was prescribed and the boy recovered without surgical intervention.- - - - - - - - - - ranking = 1keywords = tract (Clic here for more details about this article) |
8/58. Free-tissue transfer for limb salvage in purpura fulminans.A series of 13 patients is described to demonstrate the experience of the authors with free-tissue transfer for limb salvage in patients with purpura fulminans. A total of seven free-flap procedures were performed, with a loss of flap in one patient. The flaps were used for lower-extremity salvage in six patients and for upper-extremity salvage in one. purpura fulminans is a devastating illness caused by endotoxin-producing bacteria such as meningococcus and pneumococcus. Clotting derangements and systemic vasculitis often lead to widespread tissue necrosis in the extremities. Local tissue is usually not available to cover vital structures in these complex wounds. In these situations, free-tissue transfer is necessary to achieve limb salvage. Microsurgical reconstruction in patients with purpura fulminans is a formidable challenge. Because of high platelet counts and systemic vasculitis, successful microvascular anastomosis is difficult. Abnormally high platelet counts persist well into the subacute and chronic phases of the illness. Pretreatment with antiplatelet agents before microvascular surgery may be beneficial. The systemic nature of the vascular injury does not permit microvascular anastomosis to be performed outside the "zone of injury." Extensive vascular exposure, even at a great distance from the wound, does not reveal a disease-free vessel. The friable intima is difficult to manage with a standard end-to-side anastomosis, but conversion to end-to-end anastomosis may salvage free-tissue transfers in cases in which intimal damage is too severe to sustain a patent anastomosis. patients often have peripheral neuropathies caused by the underlying disease; however, this resolves with time and is not a contraindication to limb salvage.- - - - - - - - - - ranking = 0.14469819300269keywords = upper (Clic here for more details about this article) |
9/58. Henoch-Schonlein purpura in wiskott-aldrich syndrome.wiskott-aldrich syndrome (WAS) is a rare immune deficiency disease. Sialophorin glycosylation is defective in WAS. Although it is not very common, renal involvement including IgA nephropathy (IgAN) was reported. Abnormal glycosylation plays a key role in the pathogenesis of IgAN. We present an 8-year-old boy with WAS who had recurrent episodes of Henoch-Schonlein purpura with renal involvement following upper respiratory tract infections. His renal function did not deteriorate. Both IgAN and WAS have glycosylation defects, but there must be some other factors (genetic and environmental) to explain their rare association.- - - - - - - - - - ranking = 9032.1570187748keywords = upper respiratory tract infection, respiratory tract infection, upper respiratory tract, respiratory tract, tract infection, tract, upper (Clic here for more details about this article) |
10/58. life-threatening gastrointestinal bleeding due to a jejunal lesion of Henoch-Schonlein purpura.The case of a 56-year-old patient with Henoch-Schonlein purpura (HSP) and fulminant gastrointestinal bleeding is reported. The patient was admitted to hospital because of palpable purpura on both legs, painful joints and diffuse abdominal pain. Suspected HSP was histologically proven and treated with prednisolone. Despite recovery, acute gastrointestinal bleeding, with melena and a drop in hemoglobin concentration from 11.2 to 4.2 g/dl, occurred 30 days after medication was started. Immediate endoscopic examination of the upper gastrointestinal tract showed no signs of bleeding whereas colonoscopy showed fresh blood and blood clots in the terminal ileum and the colon. Since the bleeding source could not be detected endoscopically, mesenteric angiography was performed, demonstrating active bleeding from a jejunal artery. Thereafter the bleeding source was located by intraoperative peroral enteroscopy and treated by resection of a short segment of jejunum.- - - - - - - - - - ranking = 1.1446981930027keywords = tract, upper (Clic here for more details about this article) |
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