Pak J Med Sci
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Brachdactyly a genetic disorder associated with the abnormal development of metacarpals, phalanges or both which results in the shortening of hands and feet. Mutations in the contributing genes has been recognized with the majority of the investigated syndromic form of brachdactyly. The current study was proposed to examine mutation in NOG and GDF5 genes in a Pakistani family. ⋯ The current study reported the genetic variability and concluded that the Brachdacytyly type A2 and type B2 resulted due to mutation in GDF5 and NOG genes respectively. A new subtype of brachydactyly (BDB2) was instigated as a result of novel mutations in NOG. The mutation has been reported for the first time in Pakistani population and especially in Pushtoon ethnic population.
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To analyze the efficacy of therapeutic endoscopy in combination with quadruple therapy in treating bleeding caused by gastric ulcer and investigate the factors inducing rebleeding. ⋯ Endoscopic treatment in combination with quadruple therapy is better in the treatment of bleeding caused by gastric ulcer as compared to medical treatment alone. Patients with high-risk factors such as low content of hemoglobin and ulcer at stage A1 should be monitored more carefully to prevent the occurrence of rebleeding.
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To explore clinical and laboratory features, therapy and outcome of antineutrophil cytoplasmic antibodies (ANCA) associated vasculitis (AAV) patients from our tertiary care center. ⋯ The 10-year survival in our AAV patients was 95%. ANCA pattern was similar to Caucasian AAV patients and different from Japanese and Chinese AAV patients.
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Hypertrophic scar is common in burn patients, but treating result could not meet the expectation of the patients and doctors. We have found that certain concentration level of lipopolysaccharide (LPS) stimulated normal fibroblast cells have statistically similar with fibroblast cells from hypertrophic scar on the phenotype level, and with this work we are trying to figure out which Mitogen-Activated Protein Kinase (MAPK) is affected and how it is affected. ⋯ MAPKs can play an important role in the formation of hypertrophic scar in the skin. Early intervention through the MAPKs could be a promising target in the prevention of the formation of hypertrophic scar.
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