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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Submission to journals takes a lot of time and format related submission requirements vary greatly from one journal to another. Lack of time and motivation in academia reduces scientific outputs and demotivates researchers. ⋯ Each account type will have its own abilities and permissions. The ABJJS system is an ongoing project that will be designed in cooperation with IT experts and academicians and it will be presented to the scientific world as soon as it secures sufficient support.
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To compare the success in patients having vitreous hemorrhage undergoing pars plana vitrectomy with or without preoperative intravitreal injection of Bevacizumab. ⋯ Intravitreal injection of Bevacizumab (Avastin) was effective before vitrectomy in the surgical management of Advanced Diabetic Eye disease.
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To determine association of in-hospital outcome of AKI with etiology in newborns at a tertiary care hospital. ⋯ Acute kidney disease in newborns is associated with significant disease morbidity and mortality with asphyxia and sepsis are the main etiological factors responsible. It is predominantly more common in boys compared with girls. Mortality rate was high in our study and it was significantly associated with female gender. Mortality was also associated with elevated serum sodium and urea level.
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Urinary tract infections (UTI) are the second most common infection in geriatric population. This study investigated clinical findings, diagnostic approaches, complicating factors, prognosis, causative microorganisms and antimicrobial susceptibility in geriatric patients diagnosed with UTI. ⋯ Because of the potential for serious complications and mortality, elderly patients with urinary tract infection, should receive immediate empirical treatment based on anamnesis, clinical evaluation and urinalysis and should be re-examined using results from cultures and antibiograms upon follow-up.