Simkania negevensis: Is it a real respiratory pathogen?

Simkania negevensis, a recently discovered Chlamydia-like organism, has been associated with respiratory infections such as pneumonia, bronchiolitis and chronic obstructive pulmonary disease in children and adults. The aim of the present study was to evaluate S. negevensis in the etiology of pediatric community-acquired pneumonia, bronchiolitis and asthma exacerbation in our region. Overall, 102 patients and 46 healthy controls were included in the study. S. negevensis was investigated by real time PCR (Primer Design, UK) in nasopharyngeal swab samples. It failed to be detected in either the study or control group. In conclusion, our results suggest that S. negevensis is not an important respiratory pathogen in our region

Investigation of the effects of mir-219-1 gene variants on the development of disease in non-small cell lung cancer patients

Background: Various variants of the miR-219-1 gene are one of the first genes associated with NSCLC prognosis in the literature. Objectives: We aimed to genotype two different variants of the miR-219-1 gene and to investigate to using of the result as a biomarker in the diagnosis and treatment of NSCLC. Materials and Methods: The patients were chosen according to International NSCLC criteria and genomic DNA was isolated from blood (138 patients and 100 healthy individuals). Then qRT-PCR was applied to determine the rs213210 and rs421446 variants of miR-219-1 gene polymorphisms. Allele and genotype frequencies were compared using Pearson’s chi-square and Fisher’s exact tests test. Results: We found that TT genotype (p=0,381) in rs213210 compared with CC genotype (p=0,165) and CC genotype (p=0,823) in rs421446 compared with TT genotype (p=0,537) did not show a significantly increased risk of NSCLC. There is no relationship between polymorphisms in miR-219-1 and the outcome of NSCLC. Conclusion: miRNA single nucleotide polymorphisms can be used as genetic biomarkers to predict cancer susceptibility, early diagnosis, and prognosis. Our study has shown that two variants of miR-219-1 were not related to NSCLC in the Turkish population. The reason for this can be differences in ethnicity, regions, and background of population and these differences could lead to various outcomes. Keywords: NSCLC; miR-219-1 gene; single-nucleotide polymorphisms

A Mild Phenotype of Mitochondrial DNA Depletion Syndrome Type 13 with a Novel FBXL4 Variant

Mitochondrial DNA depletion syndromes (MDDS) are a group of rare genetic disorders caused by defects in multiple genes involved in mitochondrial DNA maintenance. Among these, FBXL4 gene variants result in encephalomyopathic mtDNA depletion syndrome 13 (MTDPS13), which commonly presents as a combination of failure to thrive, neurodevelopmental delays, encephalopathy, hypotonia, a pattern of mild facial dysmorphisms, and persistent lactic acidosis. To date, 53 pathogenic FBXL4 variants and 100 cases have been described in the literature. In the present case report, we report on a 4.5-year-old boy with MTDPS13 and a novel variant. The patient had a history of antenatal hydrocephalus, severe developmental delay and mental motor retardation with psychomotor delay, severe hypotonia, mild left ventricular hypertrophic cardiomyopathy, mild facial dysmorphism, and elevated lactate levels. Symptoms suggested mitochondrial myopathy; subsequently, whole-exome sequencing was performed and a novel homozygous variant FBXL4 (NM_012160.4): c.486T>G (p.Tyr162Ter) was identified. While most of the patients with FBLX4 gene mutation have severe clinical manifestation and die at a very young age, clinical progress of our case was milder than previously reported. MDDS are very rare and can present with many different clinical signs and symptoms. In this report, we identified a novel pathogenic variant in the FBXL4 gene. This report shows that patients with FBLX4 gene mutations may present with a milder clinical phenotype than previously reported

ALG1-CDG: A Patient with a Mild Phenotype and Literature Review

ALG1-congenital disorder of glycosylation (ALG1-CDG) is an autosomal recessive multisystem disease. We here present a patient with a mild phenotype of ALG1-CDG. A 15-month-old female was referred with hypotonia, failure to thrive, and developmental delay. At 8 months of age, failure to thrive, feeding difficulties and developmental delay became apparent, and an epileptic seizure was observed at 11 months of age. Progressive deterioration and swallowing difficulty were observed. A brain MRI revealed a widening of the cerebrospinal fluid spaces and ventricular system, and decreased protein C, protein S and antithrombin III levels were identified. The isoelectric focusing showed a type 1 pattern. A homozygous c.1076C>T (p.Ser359Leu) variant was found in the ALG1 gene. CDG should be taken into consideration in patients presenting with unexplained multisystem involvement

Efficacy of tenofovir and entecavir in patients who relapsed after pegylated interferon therapy

Hepatitis B virus (HBV) infections and sequelae present significant health problems worldwide. Two groups of medications are available for chronic HBV infection treatment: (1) interferons (IFNs) and (2) nucleos(t)ide analogues. This study aimed to evaluate entecavir (ETV) and tenofovir disoproxil fumarate (TDF) efficacies in chronic HBV patients, who achieved virological response during Peg-IFN treatment but did not sustain this response and relapsed a year after treatment end. In this study, 74 patients with chronic HBV infection who had virological responses to 180 mu g/week Peg-IFN alpha-2a treatment were included; 38 (20 and 18 HBeAg positive and negative, respectively) of these patients were treated with 245 mg/day TDF, and 36 (20 and 16 HBeAg positive and negative, respectively) were treated with 0.5 mg/day ETV upon relapse after initial treatment discontinuation. In HBeAg-positive patients biochemical response rates were higher for TDF at weeks 96 and 144 (p = 0.044 and 0.019, respectively). However, biochemical response rates were similar for TDF and ETV in HBeAg-positive and HBeAg-negative groups at other weeks (p > 0.05). Virological and serological response rates were similar in patients treated with TDF and ETV in HBeAg-positive and HBeAg-negative groups (p > 0.05)

High psychiatric comorbidity in adolescents with dissociative disorders

AimThe aim of this study was to evaluate psychiatric comorbidity rates and patterns in a sample of clinically referred adolescents diagnosed with dissociative disorders (DD) by using a structured interview

Temperament and Character Traits of Personality in a Sample of Patients Admitted to the Emergency Unit with a Suicide Attempt

character dimension scores and compare them with psychiatrically healthy individuals considering the influence of demographic risk factors. Methods: This study enrolled consecutive 50 patients (39 women, 11 men) with a mean age of 24.12 (SD +/- 8.83) years who were admitted to the Emergency Department of Bezmialem Vakif University hospital for a recent self - or not self-reported suicide attempt. The control group consisted of age - and gender-matched 50 healthy subjects (34 women, 11 men) who had not a documented axis I psychiatric disorder or a previous suicide attempt with a mean age of 26.46 (SD +/- 5.6). A semi-structured sociodemographic and clinical data form, Structured Clinical Interview for DSM-IV axis I disorders (SCID-I), and the Turkish version of Temperament and Character Inventory (Turkish-TCI) were administered to all participants. Following screening of all variables for the accuracy of data entry, missing values, and homoscedasticity, statistical analyses were performed by using SPSS version 23 for Windows. Results: A statistically significant difference was found between the patients and psychiatrically healthy controls mean values in terms of Impulsiveness and Disorderliness subscales of Novelty Seeking; Harm Avoidance and its all subscales, Sentimentality subscale of Reward Dependence; Self-Transcendence and its subscales of Self-Forgetfulness, Transpersonal Identification and Spiritual Acceptance scores were significantly higher in patients with suicide attempt compared to the control group. Patient group also exhibited significantly lower mean values of Self-Directedness, Persistence, and Cooperativeness scales compared to the psychiatrically healthy controls. Conclusions: In conclusion, our results suggested that patients with a history of suicide attempts have abnormal TCI profiles linked to higher harm avoidance, novelty seeking and self-transcendence scores and lower self-directedness and cooperativeness scores compared to psychiatrically healthy controls. Since personality traits play an important role in the prediction of suicidality, clinicians should be aware of personality-psychopathology relations for assessment and developing treatment strategies of the patients with suicide attempt