GİRİŞZehirlenme vücuda zararlı olabilecek maddelerin ağız, solunum, damar yolu veya cilt gibi yollardan alınmasıdır (1) . Aşılar ve gelişmiş medikal tedavilerle infeksiyonların azalmasından sonra zehirlenmeler çocukluk çağında kazalar ve tümöral hastalıklarla beraber en önemli mortalite nedenlerini oluşturmak-tadır. Acil başvurularda trafik kazaları, düşme ve yanıklardan sonra zehirlenmeler çocukluk çağı kazaları
Aim: Galactosemia is a carbohydrate metabolism disorder with autosomal recessive inheritance. The most frequent enzyme deficiency is galactose-1-phosphate-uridylytransferase, which causes classic galactosemia. When the enzyme is absent, an infant cannot metabolize galactose-1-phosphate and it cumulates in liver, kidney, brain, tongue, lens, and skin. This study aimed to evaluate the clinical and molecular characteristics of patients with galactosemia, which is observed more frequently in our country than anywhere else in the world.
Material and Methods:This is a retrospective study that includes the moleculer and genetic charcteristics of 14 patient who were diagnosed as having galactosemia between January 2009 and January 2011.Results: Nine patients were male and 5 female. Consanguineous marriage was detected in the family history of 7 patients. One patient had a history of a deceased sibling with a confirmed diagnosis of galactosemia. The main reasons for admission to the hospital were jaundice in 9, hypoglycemia in 2, sepsis in 2, and elevated liver enzymes in 1 patient. The Beutler test was positive in all patients. The mean enzyme activity was 0.36±0.26 µmol/mL. Only 6 of our cases were diagnosed in the early period (first 15 days). Cataract was present in four patients. Q188R mutation was observed in 13 patients, and homozygote N314D and homozygote E340X mutations were observed in one patient. Three patients had impaired neurologic development according to the Denver Developmental Screening Test II.
Conclusion:The most common genetic abnormality was Q188R mutation. Only 43% of our patients's disease could be diagnosed at an early stage. We suggest that galactosemia should be included in the national newborn screening program in order to make earlier diagnoses. (Turk Pediatri Ars 2016; 51: 204-9)
Perforator Flaps and Clinical Applications Perforator flaps were first introduced and popularized in the 1980's in parallel with advancements in microsurgical techniques and surgical expertise of plastic surgeons in search of flaps with ease of access and minimal morbidity of the donor site. Among the advantages of perforator flaps one can name the sparing of the muscle function, the ability to utilize tissue as needed, optimized healing period and better aesthetic results. Utilization of perforator flaps has therefore been popularized in the past 10 years with various classification and nomenclature complexities. This article aims to review the terminology, anatomy and classifications, and nomenclatures of perforator flaps with a review of the most common perforator flaps, their surgical techniques, and relevant literature.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.