Fabry disease (FD) is an X-linked lysosomal storage caused by a mutation in the gene encoding α-galactosidase A and leads to reduced activity or complete absence of this enzyme, which causes accumulation globotriaosylceramide (Gb3) its deacylated form (lyso-Gb3) cells whole body. FD can occur both with multisystem manifestations, including damage nervous system, kidneys, skin, affect only heart...

Knowledge of how the activity of enzymes is affected under in vivo conditions is essential for analyzing their regulation and constructing models that yield an integrated understanding of cell behavior. Current kinetic parameters for Lactococcus lactis are scattered through different studies and performed under different assay conditions. Furthermore, assay conditions often diverge from conditi...

moyamoya disease is a rare vaso-occlusive illness with an unknown etiology characterized by stenosis of the internal carotid arteries with spontaneous development of a collateral vascular network. a 15-month-old girl was referred to the emergency ward of imam reza hospital due to decreased level of consciousness, focal seizures and fever during the previous 24 hours with an impression of enceph...

The clinical presentation of appendicitis in the newborn is nonspecific. The diagnosis was always made after surgical exploration for acute abdominal findings mimicking necrotizing enterocolitis. We report the case of acute appendicitis in a newborn diagnosed intraoperatively after neonatal occlusion symptoms.

Along with replication and mutability, living beings are set apart from the mineral background they inhabit by their metabolism—their ability to catalyse chemical reactions. Since Linus Pauling first proposed that these reactions are made pos­ sible by enzymes that recognize and bind tightly to their substrates at a crucial transi­ tion point [1], it has become increasingly clear that understan...

Hemangiomas are considered as vascular malformations which are categorized by the type of vascular channel to capillary, cavernous, venous or arteriovenous(1). Their usual locations are soft tissue , cutaneous or subcutaneous tissue and bone especially vertebra(2).However, intradural extramedullary hemangiomas are rare and most of them fall in cavernous type category. Hereby, authors report a w...

Round ligament leiomyoma of uterus is rare. It can be presented as inguinal swelling mimicking the inguinal hernia or lymph node. Surgical excision is its curative treatment. Definitive diagnosis is made by histopathological examination. A 32 year old pregnant patient having round ligament leiomyoma as diagnosed histopathologically in Recep Tayyip Erdogan University Hospital in 2014 was present...

Herein, we reported on a case of solid type of pulmonary actinomycosis in a 10-year-old boy. He had productive cough for 40 days. Bronchoscopy was normal. Cmputed tomography revealed a solid large mass in the upper lobe of his left lung with mimicking malignant leisions. He was referred for surgery and underwent left upper lobectomy. Macroscopically, the specimen measured 13×9×5 cm and was crea...