The aim of this study was to evaluate the impact of enuresis nocturna on quality of life of the mothers. Mothers who have a child with monosymptomatic nocturnal enuresis (n=28) and mothers who have a child without any health problems (n=38) were enrolled in the study. Groups were in balance for background variables (child's age, gender, and number of siblings; mother's age, marital status, highest year of education completed, and occupation; presence of health insurance; and type of residence). Short-Form Health Survey (SF-36) Questionnaire, the Beck Depression Inventory (BDI), and Spielberg's State-Trait Anxiety Inventory (STAI) were applied to all mothers. The mothers of children with enuresis had significantly lower quality-of-life scores in the SF-36 for the bodily pain (p=0.015) and role emotional (p=0.014) subscales. We observed significant difference between groups according to BDI; mean score was higher in mothers who have a child with enuresis nocturna (p=0.017). There was no significant difference between groups according to the STAI. Significant differences according to bodily pain and role emotional subscales of SF-36, and the BDI scores, show that the mothers were negatively affected by having a child with monosymptomatic nocturnal enuresis.

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Background Biotinidase deficiency (BD) is an autosomal recessively inherited disorder of biotin recycling. It is classified into two levels based on the biotinidase enzyme activity: partial deficiency (10%-30% enzyme activity) and profound deficiency (0%-10% enzyme activity). The aims of this study were to evaluate our patients with BD, identify the spectrum of biotinidase (BTD) gene mutations in Turkish patients and to determine the clinical and laboratory findings of our patients and their follow-up period. Methods A total of 259 patients who were diagnosed with BD were enrolled in the study. One hundred and forty-eight patients were male (57.1%), and 111 patients were female (42.9%). Results The number of patients detected by newborn screening was 221 (85.3%). By family screening, 31 (12%) patients were diagnosed with BD. Seven patients (2.7%) had different initial complaints and were diagnosed with BD. Partial BD was detected in 186 (71.8%) patients, and the profound deficiency was detected in 73 (28.2%) patients. Most of our patients were asymptomatic. The most commonly found variants were p.D444H, p.R157H, c.98_104delinsTCC. The novel mutations which were detected in this study are p.D401N(c.1201G>A), p.A82G (c.245C>G), p.F128S(c.383T>C), c617_619del/TTG (p.Val207del), p.A287T(c.859G>A), p.S491H(c.1471A>G). The most common mutation was p.R157H in profound BD and p.D444H in partial BD. All diagnosed patients were treated with biotin. Conclusions The diagnosis of BD should be based on plasma biotinidase activity and molecular analysis. We determined the clinical and genetic spectra of a large group of patients with BD from Western Turkey. The frequent mutations in our study were similar to the literature. In this study, six novel mutations were described.

The aim of this study was to evaluate the effect of the TLR-4 gene TLR4 c.896A < G polymorphism on the development and clinical severity of urinary tract infections (UTI) and renal scar formations in children. The patients with first diagnosis of UTI (n = 112) and healthy controls (n = 93) were enrolled in the study. The TLR4 c.896A < G polymorphism was analysed in groups. The mean age of the patients in the study group was 8.1 ± 3.5 years and 9.2 ± 2.7 years for those in the control group. The TLR4 c.896A < G polymorphism was detected in 12.5% in the UTI group and in 15.1% of the control group. Forty patients showed pyelonephritis (PN) with scar tissue, 37 patients had PN without scars, and 35 patients had lower UTI. The TLR4 c.896A < G polymorphism was found in 22.5% of patients with scar-positive PN, and it was also present in 10.8% of patients with scar-negative PN and 2.9% of patients with lower UTI. We found higher TLR4 c.896A < G polymorphism and allelic frequency in patients with upper UTI compared to patients with lower UTI (P = 0.041 and P = 0.039, respectively). No significant difference was observed between patients and the control group for TLR-4 c.896A3. The TLR4 c.896A < G polymorphism and alleles were higher in patients with upper UTI than in patients with lower UTI. The TLR4 c.896A < G polymorphism frequency was nearly twice that in the scar-positive PN patients when compared to the scar-negative patients. Larger-scale studies involving larger numbers of patients should be performed.

The purpose of our study is to submit the demographic, phenotypic and age at diagnosis characteristics of children with GM2 gangliosidosis. Materials and Methods: Patients with GM2 gangliosidosis who were referred to

Sensorineural hearing loss and bilateral basal ganglia lesions are common symptoms of mitochondrial disorders. This is the first report of an association with DNAJC19 defect.

Biotinidase deficiency is characterized by severe neurological manifestations as hypotonia, lethargy, ataxia, hearing loss, seizures and developmental retardation in its classical form. Late-onset biotinidase deficiency presents distinctly from the classical form such as limb weakness and vision problems. A 14-year-old boy presented with progressive vision loss and upper limb weakness. The patient was initiated steroid therapy with a preliminary diagnosis of neuromyelitis optica spectrum disorder due to the craniospinal imaging findings demonstrating optic nerve, brainstem and longitudinally extensive spinal cord involvement. Although the patient exhibited partial clinical improvement after pulse steroid therapy, craniocervical imaging performed one month after the initiation of steroid therapy did not show any regression. The CSF IgG index was <0.8 (normal: <0.8), oligoclonal band and aquaporin-4 antibodies were negative. Metabolic investigations revealed a low biotinidase enzyme activity 8% (0.58 nmoL/min/mL; normal range: 4.4 to 12). Genetic testing showed c.98-104delinsTCC and p.V457 M mutations in biotinidase (BTD) gene. At the third month of biotin replacement therapy, control craniospinal MRI demonstrated a complete regression of the lesions. The muscle strength of the case returned to normal. His visual acuity was 7/10 in the left eye and 9/10 in the right. The late-onset form of the biotinidase deficiency should be kept in mind in all patients with myelopathy with or without vision loss, particularly in those with inadequate response to steroid therapy. The family screening is important to identify asymptomatic individuals and timely treatment.

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