A Case of Pyridoxine Dependent Epilepsy Presented with Status Epilepticus

Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive encephalopathy due to mutations in the ALDH7A1 gene. Intractable seizures are the most frequent clinical form in the early infantile period. A case of a 4-month-old female patient presented to our hospital with status epilepticus. Her seizures started in the neonatal period and partial response to phenobarbital was seen. Her seizures could not be controlled with appropriate antiepileptic treatment. The seizure stopped with 100 mg of intravenous pyridoxine administration. The diagnosis of PDE was considered and ALDH7A1 gene mutation analysis revealed homozygous missense mutation. Pyridoxine should be administrated in case of intractable seizures and should be included in status epilepticus treatment protocol. Diagnosis of PDE should be considered especially in our country where consanguineous marriage is frequently seen

Neutropenic Fever in a Two-and-a-Half Month Old Girl: Severe Congenital Neutropenia

Severe congenital neutropenia is a hereditary disease characterized by a low number of neutrophils occurring from the first months of life leading to severe infections. It is rare but threatens life because of severe infections. For this reason, early diagnosis and treatment of this disease is important. Here, we present a case of a two and a half month old girl who was admitted to our clinic with fever and absolute neutropenia was determined in her clinical course

Molecular analyses of ADAMTS-1, -4, -5, and IL-17 a cytokine relationship in patients with ulcerative colitis

Abstract Background Ulcerative colitis (UC) is a chronic inflammatory bowel disease that develops due to the impaired immune response in genetically susceptible individuals, and its etiopathogenesis is not fully elucidated. IL-17 A is a cytokine that is produced by a type of immune cell called Th17 cells and is involved in the immune response and inflammation. On the other hand, ADAMTS-1, -4, and − 5 are enzymes that are involved in the breakdown of extracellular matrix proteins, including proteoglycans, which are important components of the intestinal wall. This study aimed to evaluate the relationship between interleukin 17 (IL-17 A) cytokine, which plays a role in the pathogenesis of ulcerative colitis, and the inflammation-controlled a disintegrin and metalloproteinase with thrombospondin motifs (ADAMTS)-1, -4, and − 5 protein members. Methods Bowel tissue samples and blood serum from 51 patients with UC and 51 healthy controls were included in this study. mRNA expression levels of the ADAMTS-1, -4, -5, and IL-17 A were analyzed by RT-qPCR, and immunohistochemical analyses were performed to evaluate ADAMTS-1, -4, -5, and IL-17 A proteins in tissue samples. In addition, ELISA analysis determined serum levels of the ADAMTS-1, -4, -5, and IL-17 A. Results RT-qPCR results reveal that the expression of ADAMTS-1, -4, -5, and IL-17 A genes in the UC tissue samples were significantly high according to the control tissue samples. Also, ADAMTS-1, -4, -5, and IL-17 A proteins revealed enhanced expression pattern UC groups according to the control. Also, ADAMTS-1, -4, -5, and IL-17 A protein showed cytoplasmic localization patterns in both control and UC groups. The serum levels of ADAMTS-1,-5, and IL-17 A were significantly higher in UC samples than in the control group. Conclusions We observed a positive correlation between the ADAMTS-1, -5 and IL17A cytokine expression in UC samples. These results provide a new understanding of controlling crucial ADAMTS family protein members by IL-17 A cytokines with UC