[ neurofibromatosis type 1 family report with multiple cases in 3 consecutive Generations]

Neurofibromatosis type1 [NF1] with the incidence of 1 in 3500 births, is the most common disorder which affects skin and peripheral nervous system. NF1 results from mutations in NF1 gene. The NF1 gene spans 350kbp and to date, nearly 2434 mutations in it were reported. The gene with 100 percent penetrance is located on chromosome 17 encoding neurofibromin protein. Recently, many challenges of its genetic analysis have been overcome through the application of new sequencing techniques. In present study patients with neurofibromatosis type 1 have been characterized from clinical symptoms such as presence of cafe au lait spot, plexiform neurofibroma, optic nerves involvement, presence of several patients in first degree relatives. These patients were in different ages including 73, 63, 44, 20 with different symptoms and severities of disease. In this communication, a NF1 family with 4 cases in 3 generations has been presented

Detection of extended spectrum beta-lactamases in urinary isolates of klebsiella pneumoniae in relation to bla[SHV] bla[TEM] and Bla[CTX-M] gene carriage

Resistance to contemporary broad-spectrum beta-lactam antibiotics mediated by extended-spectrum beta-lactamases [ESBLs] is increasing worldwide. Klebsiella pneumoniae, an important cause of nosocomial and community acquired urinary tract infections has rapidly become the most common ESBL producing organism. We examined ESBL production in urinary isolates of K. pneumoniae in relation to the presence of bla[SHV], bla[TEM] and bla[CTX-M] genes Antibiotic resistance of 51 clinical isolates of K. pneumoniae was determined to amoxicillin, amikacin, ceftazidime, cefotaxime, cefteriaxon, ceftizoxime, gentamicin, ciprofloxacin and nitrofurantoin by disc diffusion. Minimum inhibitory concentrations were also measured for ceftazidime, cefotaxime, cefteriaxon, ceftizoxime and ciprofloxacin. ESBL production was detected by the double disc synergy test and finally, presence of the bla[SHV], bla[TEM] and bla[CTX-M] genes were shown using specific primers and PCR. Disc diffusion results showed that 96.08% of the isolates were resistant to amoxicillin followed by 78.43% resistance to nitrofurantoin, 49.02% to amikacin and ceftazidime, 41.17% to ceftriaxone, 37.25% resistance to cefotaxime and ceftizoxime, and 29.42% to gentamicin and ciprofloxacin. Both resistant and intermediately resistant organisms were resistant in MIC determinations. Twenty two isolates [43.14%] carried bla[SHV], 18 [35.29%] had bla[TEM] and 16 [31.37%] harbored bla[CTX-M] genes. ESBL production was present in 14 isolates [27.45%] of which, 3 did not harbor any of the 3 genes. Among the non- ESBL producers, 9 lacked all 3 genes and 2 carried them all. No relation was found between gene presence and ESBL expression