Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036690 (sepsis)
 59,461 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An international, multicenter registry was established to collect retrospective and prospective clinical data on patients with pyruvate kinase (PK) deficiency, the most common glycolytic defect causing congenital nonspherocytic hemolytic anemia. Medical history and laboratory and radiologic data were retrospectively collected at enrollment for 254 patients with molecularly confirmed PK deficiency. Perinatal complications were common, including anemia that required transfusions, hyperbilirubinemia, hydrops, and prematurity. Nearly all newborns were treated with phototherapy (93%), and many were treated with exchange transfusions (46%). Children age 5 years and younger were often transfused until splenectomy. Splenectomy (150 [59%] of 254 patients) was associated with a median increase in hemoglobin of 1.6 g/dL and a decreased transfusion burden in 90% of patients. Predictors of a response to splenectomy included higher presplenectomy hemoglobin (P = .007), lower indirect bilirubin (P = .005), and missense PKLR mutations (P = .0017). Postsplenectomy thrombosis was reported in 11% of patients. The most frequent complications included iron overload (48%) and gallstones (45%), but other complications such as aplastic crises, osteopenia/bone fragility, extramedullary hematopoiesis, postsplenectomy sepsis, pulmonary hypertension, and leg ulcers were not uncommon. Overall, 87 (34%) of 254 patients had both a splenectomy and cholecystectomy. In those who had a splenectomy without simultaneous cholecystectomy, 48% later required a cholecystectomy. Although the risk of complications increases with severity of anemia and a genotype-phenotype relationship was observed, complications were common in all patients with PK deficiency. Diagnostic testing for PK deficiency should be considered in patients with apparent congenital hemolytic anemia and close monitoring for iron overload, gallstones, and other complications is needed regardless of baseline hemoglobin. This trial was registered at www.clinicaltrials.gov as #NCT02053480.
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PMID:Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study. 2977 41

Background: Diabetic foot complications result from the association between peripheral vascular disease, neuropathy and a precarious healing process. Peripheral neuropathy observed in diabetics affects all components of the nervous system, contributing to the occurrence of leg ulcers, musculoskeletal changes, resulting in severe deformities. The clinical manifestation of these complications ranges from simple lesions to complex entities threatening the loss of pelvic limb or even life (1,2). Methods: In our surgery department, a significant number of patients with diabetic foot lesions are hospitalized and treated annually, 40% having clinical manifestations of diabetic neuropathy associated. In 2017, a total of 448 patients were hospitalized for complications of diabetes. We performed a retrospective analysis of 150 consecutive patients who underwent surgery for neuropathic diabetic foot lesions. Results: The analyzed patients had a favorable postoperative progression, benefiting from distal perfusion. Ray resection was the preferred surgical intervention. Major amputation was performed in 10% of cases with extensive gangrene and sepsis, amputation of the calf being preferred in all situations. Conclusions: The management of these patients is delicate, often multidisciplinary approach being necessary. A well-managed therapeutic attitude can make the difference between preserving or losing the pelvic limb.
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PMID:Surgical Management of Diabetic Neuropathy Foot Complications. 3038 90

Infections with Vibrio parahaemolyticus, a gram-negative bacterium found in salt water, are mainly gastrointestinal or cutaneous. The development of sepsis is not uncommon. We report the case of an 85-year-old patient who developed lower limb cellulitis caused by V. parahaemolyticus, originating from leg ulcers and complicated by septicaemia and septic shock, after a sea beach holiday. We discuss the epidemiology, pathogenesis, clinical manifestations and treatment of V. parahaemolyticus infections.
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PMID:Vibrio parahaemolyticus Induced Cellulitis and Septic Shock after a Sea Beach Holiday in a Patient with Leg Ulcers. 3112 52

We describe the first Italian case of Shewanella algae septicemia in an immunocompetent patient with chronic leg ulcers. The patient had been exposed to seawater before the onset of symptoms. Despite the absence of severe underlying diseases, the primary soft tissue infection of the leg was complicated by hematogenous dissemination.
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PMID:The first Italian case report of leg ulcer and sepsis caused by Shewanella algae in a immunocompetent patient. 3120 42


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