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

Alport syndrome: Histopathology and molecular pathogenesis

Alport sendromu (AS); kalıtsal ve ilerleyici bir böbrek hastalığıdır. Genetik, klinik, immunohistokimyasal ve ultrastrüktürel heterojenitesi nedeniyle halen üzerinde çok fazla araştırma yapılan ve yazı yazılan hastalıklardan birisidir. Olgularda sıklıkla nefrite, sinirsel tipte sağırlık, lens dislokasyonu, posterior katarakt ve kornea distrofisi gibi çeşitli göz hastalıkları eşlik eder. Genellikle, hastalı ğın tanısı klinik belirtiler yanı sıra aile üyelerinin çok dikkatli incelenmesi ve bazal membran yapısının elektron mikroskopik değerlendirilmesine dayanır. Hastalık primer olarak X’e bağlı dominant geçiş gösterir. Ancak, hastalı ğın otozomal dominant ve otozomal resesif formları da tanımlanmıştır. Bu çalışmanın amacı; AS’nun hem histopatolojisini gözden geçirmek, hem de moleküler dü zeydeki son gelişmeleri özetlemektir.Alport syndrome (AS) is a heritable progressive renal disease. Because of it’s genetic, clinical, immunohistochemical and ultrastructural heterogeneity, despite the large number of published studies, it still remains a diagnostic challenge. Generally, nephritis is accompanied by sensorineural deafness and various ocular disorders, including lens dislocation, posterior cataracts, and corneal dystrophy in patients. Diagnosis of the disease usually depends on careful examination of both the clinical features of the patient and family members, and evaluation of the basal membrane via electron microscopy. AS is usually transmitted as an X-linked dominant trait, however autosomal recessive and autosomal dominant forms of the disease have also been described. The aim of this study is both to evaluate the histopathological features of AS and to summarize the recent developments in molecular aspect of the disease

Alport syndrome: Histopathology and molecular pathogenesis

Alport sendromu (AS); kalıtsal ve ilerleyici bir böbrek hastalığıdır. Genetik, klinik, immunohistokimyasal ve ultrastrüktürel heterojenitesi nedeniyle halen üzerinde çok fazla araştırma yapılan ve yazı yazılan hastalıklardan birisidir. Olgularda sıklıkla nefrite, sinirsel tipte sağırlık, lens dislokasyonu, posterior katarakt ve kornea distrofisi gibi çeşitli göz hastalıkları eşlik eder. Genellikle, hastalı ğın tanısı klinik belirtiler yanı sıra aile üyelerinin çok dikkatli incelenmesi ve bazal membran yapısının elektron mikroskopik değerlendirilmesine dayanır. Hastalık primer olarak X’e bağlı dominant geçiş gösterir. Ancak, hastalı ğın otozomal dominant ve otozomal resesif formları da tanımlanmıştır. Bu çalışmanın amacı; AS’nun hem histopatolojisini gözden geçirmek, hem de moleküler dü zeydeki son gelişmeleri özetlemektir.Alport syndrome (AS) is a heritable progressive renal disease. Because of it’s genetic, clinical, immunohistochemical and ultrastructural heterogeneity, despite the large number of published studies, it still remains a diagnostic challenge. Generally, nephritis is accompanied by sensorineural deafness and various ocular disorders, including lens dislocation, posterior cataracts, and corneal dystrophy in patients. Diagnosis of the disease usually depends on careful examination of both the clinical features of the patient and family members, and evaluation of the basal membrane via electron microscopy. AS is usually transmitted as an X-linked dominant trait, however autosomal recessive and autosomal dominant forms of the disease have also been described. The aim of this study is both to evaluate the histopathological features of AS and to summarize the recent developments in molecular aspect of the disease

Evaluation of serum MicroRNA expression profiles in patients with panic disorder

BACKGROUND: Studies on the role of microRNAs (miRNA) in anxiety disorders are limited. We aimed to determine the availability of miRNAs as biomarkers in serum and to demonstrate the changes of miRNAs expression in patients with panic disorder (PD). METHODS: Thirty-five patients with PD and 35 healthy controls (HC) were evaluated with Structured Clinical Interview for DSM Disorders-I (SCID-I) and Panic Disorder Severity Scale (PDSS). In each group miRNA expression analysis was performed in venous blood by the Real-time Polymerase Chain Reaction (RT–PCR) method for genetic evaluation. RESULTS: Compared with the HC group, eight miRNA expression levels were found different in the PD group. Five of them were upregulated and three of them were downregulated. There was no correlation between the levels of miRNA expression with PDSS total score and PDSS sub-items. However, miR-1297 and miR-4465 expression levels were significantly different between the two groups. LIMITATIONS: There are some limitations in this research. Firstly the number of samples is small. Another limitation of our study is that the presence of medical illness and continuous drug use were not excluded when PD and HC groups were selected. CONCLUSIONS: Our research is the first miRNA expression study in patients with PD which excluded psychotropic use and additional psychiatric disorders. In the PD group, miR-1297 and miR-4465 expression was upregulated than compared to the HC group. miR-1297 and miR-4465 regulate the GABAA gene regions that affect GABAA receptor subtypes that thought to play a role in the aetiology of PD

Paraoksonaz geninde Leu-Met (55) ve Gln-Arg (192) polimorfizmleri ile koroner arter hastalığı arasındaki ilişki

Objectives: Paraoxonase (PON1) is a high-density lipoprotein (HDL)-associated esterase that hydrolyses lipoperoxides. PON1 serves as a protective factor against oxidative modification of LDL, suggesting that it may play an important role in the prevention of atherosclerotic process. Research has focused on two polymorphisms: leucine (L allele) to methionine (M allele) substitution at codon 55, and glutamine (A allele) to arginine (B allele) substitution at codon 192. Study design: We examined amino acid changes at codon 55 and 192 in the PON1 gene by polymerase chain reaction and using restriction enzymes in 120 patients (92 men, 28 women; mean age 48.2±4.3 years) with premature coronary artery disease (CAD) and in 102 healthy subjects (80 men, 22 women; mean age 46.8±5.2 years) with no history of CAD and a normal electrocardiogram. Results: Distribution of genotypes in the patient and control groups at codon 55 was 6.7% and 4.9% for MM, 46.7% and 29.4% for LM, 46.7% and 65.7% for LL, respectively. the frequencies of genotypes at codon 192 were as follows: 4.2% and 2% for RR, 40% and 35.3% for QR, and 55.8% and 62.8% for QQ, respectively. While the frequency of PON1 55M allele was higher in the CAD group (0.3 vs. 0.2), PON1 192R allele frequency did not differ (0.2). There was a significant relationship between the PON1 M/L55 polymorphism and CAD (p=0.017), whereas the R/Q192 polymorphism was not associated with CAD (p=0.445). Conclusion: These data suggest that the PON1 M/L55 polymorphism shows a significant relationship with CAD and the Q/R192 polymorphism is not a major risk factor causing susceptibility to CAD in our population.Amaç: Paraoksonaz (PON1), lipit peroksitleri hidroliz eden, yüksek yoğunluklu lipoproteine bağlı bir esterazdır. PON1, düşük yoğunluklu lipoproteinlerin (LDL) oksidatif modifikasyonuna karşı ve aterosklerotik süreçleri önlemede önemli bir rol oynamaktadır. PON1 geninde iki polimorfizm yaygın şekilde çalışılmıştır. Bunlar, 55. kodonda lösinin (L aleli) yerine metiyoninin (M aleli) geçmesi ve 192. kodonda glutaminin (Q aleli) yerine arjininin (R aleli) geçmesidir. Çalişma plani: Çalişmada, erken koroner arter hastaliği (KAH) tanisıi konan 120 hastada (92 erkek, 28 kadın; ort. yaş 48.2±4.3) ve KAH öyküsü olmayan ve elektrokardiyografileri normal bulunan 102 sağlikli bireyde (80 erkek, 22 kadin; ort. yaş 46.8±5.2) PON1 geninde 55 ve 192. kodonlardaki aminoasit değişiklikleri polimeraz zincir reaksiyonu ve kisitlayici enzimler kullanilarak incelendi. Bulgular: Hasta ve kontrol grupları'DDnda PON 55 bölgesinde genotip dağilimi MM için sirasiyla %6.7 ve %4.9, LM için %46.7 ve %29.4, LL için ise %46.7 ve %65.7 bulundu. PON 192 bölgesinde ise genotip dağilimi şöyleydi: RR %4.2 ve %2, QR %40 ve %35.3, QQ %55.8 ve %62.8. PON 55 M alel frekansi hasta grubunda kontrollere göre daha fazla bulunurken (0.3 ve 0.2), 192 R alel frekansi kontrollerle farklilik göstermedi (0.2). PON1 M/L55 polimorfizmi ile KAH arasinda anlamli ilişki görüldü (p=0.017); R/Q192 polimorfizmi ile KAH arasinda ise anlamli ilişki bulunmadi (p=0.445). Sonuç: Bulgularimiz, PON 55 M/L polimorfizmi ile KAH arasıinda ilişki olduğunu, 192 R/Q polimorfizminin toplumumuzda KAH’ye yatkinlik sağlamada risk faktörü olmadiğini göstermektedir

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