Selda Fatma Bulbul

Subjective tinnitus and hearing problems in adolescents

OBJECTIVES We investigated the hearing problems and tinnitus frequencies in adolescents at three public primary and two high schools. METHODS This study was carried out at three public primary and two high schools. 428 Turkish school children (244 girls, 184 boys) were asked to voluntarily answer a set of questionnaires in their classrooms at the beginning of the training program. There were 250 students (105 male, 145 female) in Primary School and 178 (79 male, 99 female) students in High School. We used questionnaire to evaluate subjective tinnitus and hearing problems. Walkman usage, listening loud and noisy music, intra-familial physical trauma, concentration difficulty in class and school success were also evaluated. RESULTS In age-related groups (Group 1=11-13 years; Group 2=13-15 years; Group 3=16-18 years), hearing loss was present in 32.1% of Group 1, 19% of Group 2 and 28.3% of Group 3. Listening loud and noisy music was reported in 81.8% of Group 1, 95.4% of Group 2 and 87% of Group 3. Tinnitus was present 36.8% in Group 2, 33.5% in Group 1 and 31.5% in Group 3. Tinnitus after listening loud music was present in 42.7% of Group 2, 36.1% of Group 3 and 25.6% of Group 1. Among all students with tinnitus, 19.5% considered their school success as very good, 41.1% as good and 39.4% as bad. In students, using Walkman, tinnitus was seen both in the right and left ears. CONCLUSION Tinnitus may be seen in adolescents at primary and high schools. Listening loud and noisy music and Walkman usage may cause an increase in the frequency of tinnitus manifestation. Adolescents should be educated about the hazardous effects of loud music. Education should include families, teachers, students, and whole community. These issues should be taken into public health policy of the countries.

Nutritional status of children with cerebral palsy in Turkey.

Purpose: The aim of this study was to assess the nutritional status, and provide information regarding anthropometric measurements of cerebral-palsied children living in the city of Ankara, Turkey. Method: A total of 447 children with cerebral palsy (CP) were participated in this cross-sectional study. Participants were assessed for functional motor impairment by the gross motor function classification system (GMFCS). Assesment of nutritional status was based on the triceps skinfold thickness (TSF), arm fat area (AFA) estimates derived from TSF and mid-upper arm circumference measurements. TSF and AFA Z-scores were computed using reference data. Results: Cerebral-palsied children had lower TSF and AFA Z-scores compared to reference data from healthy children. The prevalence of underweight and overweight among boys was 8.3 and 9.5%, respectively, whereas it was 19.0 and 0.5% for girls. Underweight was more prevalent in the low functioning children than in moderate functioning children. Conclusions: The findings of this study indicate that cerebral-palsied children face nutritional challenges. Underweight is more prevalent than overweight among cerebral-palsied children. To optimize the outcomes of rehabilitation and prevention efforts, an understanding of the heterogeneity of nutritional status among children with CP is required. Implications for Rehabilitation Compared with their healthy peers, cerebral-palsied children, especially girls and those who are low functioning, frequently show poor growth. Growth and nutritional status should be monitored regularly as part of rehabilitation program for cerebral-palsied children.

Depression and anxiety among parents of phenylketonuria children

Objective: To investigate the existence of depression and/or anxiety with underlying risk factors among parents of children with classical phenylketonuria (PKU). Methods: This cross-sectional study was conducted in the Division of Pediatric Metabolism, Ankara Children’s Hospital, Dokuz Eylul University, Kırıkkale University, and Erzurum Local Research Hospital, Turkey, between January and July 2014. Parents of 61 patients and 36 healthy controls completed the self-report questionnaires. We used Beck Depression Inventory (BDI) to assess the parental depression and State-Trait Anxiety Inventory S-T (STAI S-T) to assess parental anxiety. Results: Depression and anxiety scores were significantly higher in the case group (BDI 12.3±9.1; STAI-S: 38.2±9.6; STAI-T: 43.2±6.9) than controls (BDI: 5.4±4.1 p=0.000; STAI-S: 31.8±7.6 p=0.001; STAI-T: 37.0±7.2 p=0.000). Mothers of the patients had higher scores than the other parental groups (BDI: p=0.000, STAI-S: p=0.001 and STAI-T: p=0.000). Logistic regression analysis showed that low educational level of the parent was the only independent factor for depression (OR 9.96, 95% CI: 1.89-52.35, p=0.007) and state anxiety (OR: 6.99, 95% CI: 1.22-40.48, p=0.030) in the case group. Conclusion: A subset of parents with PKU patients have an anxiety or depressive disorder. Supportive services dealing with the parents of chronically ill children such as PKU are needed in order to reduce the level of anxiety.

Difficulties in Diagnosing Sexual Abuse in Children with Condyloma Acuminata in Turkey

Human papillomavirus is responsible for anogenital warts and could be regarded as an indicator of possible sexual abuse in children. A genital wart was detected during an investigation of anti–hepatitis C virus positivity in a four-year-old male patient. No pathological findings of another sexually transmitted disease were found except complete cleft palate and circumferential lesions in the perianal region. No family member was anti-hepatitis C virus positive, but the patients uncle and his wife had genital condylomata. Although detailed physical examination uncovered no other findings indicative of sexual abuse, suspicion of abuse could not be eliminated. Therefore, we wanted to draw the attention of health professionals to the association of anogenital warts and sexual abuse.

Identification of three novel mutations in fourteen patients with citrullinemia type 1

OBJECTIVES Citrullinemia type 1 (CTLN1) is an autosomal recessive genetic disorder caused by mutations in the argininosuccinate synthetase 1 (ASS1) gene, which encodes for the argininosuccinate synthetase enzyme. Here, we report genetic and clinical characterizations of 14 patients with citrullinemia type 1. DESIGN & METHODS The study group consisted of 14 patients (4 females, 10 males) diagnosed with citrullinemia type 1 from three centers in Turkey. Age of onset, clinical presentation, initial citrulline and ammonia levels, family history and molecular genetic analysis were retrospectively evaluated. RESULTS The mean age of the cohort and the mean age at the time of diagnosis were 48.3±36.5months (min: 12days, max: 10years) and 11.6±26.2months (min: 3days, max: 8years), respectively. In four patients, a homozygous p.Gly390Arg pathogenic variant was detected. All patients homozygous for p.Gly390Arg were diagnosed during the newborn period with the clinical presentation of classical citrullinemia. In each two patients, homozygous p.Arg86His, c.773+49C>T and p.Gly362Val pathogenic variants were detected. Clinical presentation was compatible with the mild form of the disease in patients homozygous for c.773+49C>T and for Gly362Val. Novel compound heterozygous genotypes (p.Ala164Pro/p.Gly390Arg; p.Leu290Pro/p.Gly390Arg; p.Thr389Pro/p.Gly390Arg) were identified in five patients. Of these, three siblings with CTLN1 were diagnosed with the compound heterozygous genotype p.Ala164Pro/p.Gly390Arg at the age of 4days, 5days and 2years, respectively. The other two patients with novel compound heterozygous genotypes (p.Leu290Pro/p.Gly390Arg; p.Thr389Pro/p.Gly390Arg) were identified in the first month of life as neonatal onset form and were born to non-consanguineous parents. CONCLUSION In our study, consistent with the literature, a correlation was found between homozygous p.Gly390Arg mutation and the classic neonatal onset form. Mild citrullinemia was detected in patients with c.773+49C>T or p.Gly362Val pathogenic variants. This study adds to our understanding of the molecular genetic background of patients with CTLN1, and allows to infer on the correlation between the genotype and phenotype of the disease.

Kırkkale, Türkiye’de doğal bitkisel ürünlerin kullanımı

Amac: Bitkisel urunler toplumda farkli nedenlerle yaygin olarak kullanilmalarina ragmen, bu urunlerin cesitliligi ve yan etkileri bilgisi yeterli degildir. Bu calismada, eriskinlerin dogal bitkisel urunlere yaklasimlari ve bu konudaki pratikleri degerlendirilmistir. Gerec ve Yontemler: Bu kesitsel calismada, calisma grubu, Kirikkale Universitesi Cocuk Sagligi ve Hastaliklari Bolumu’ne basvuran hastalarin anne/babalardan (n=409) olusmustur. Veriler, kendilerinin doldurdugu ankette sorulan 55 sorudan elde edilmistir. Bulgular: Tumu icinde, %37,3’u, en az bir bitkisel urunu (bitkisel cay/dogal ilac) bildigini belirtmistir. En iyi bilinen urunler adacayi (%55,1) ve yesil caydir (%29,7). Gecen yil %28,4’u kendileri icin (%14,3’u birden fazla urun) ve %24’u cocuklari icin (% 8,7’si birden fazla urun) bitkisel urun kullanmistir. Kendileri ve cocuklarinda bitkisel urun kullanimi icin en yaygin nedenler oksuruk idi. Bu urunlerin kullanimi, cinsiyet, yas ve okuryazarlik duzeylerine gore farklilik gostermemistir (P > 0,05). Katilimcilarin sadece bir kismi, bu bitkisel urunlerden cok fayda gorduklerini belirtmislerdir (sirasiyla kendileri icin % 21,2 ve cocuklari icin % 22,4). Sonuclar: Bu uygulamalarin bircogu, insanlara zarar vermek de dahil olmak uzere, geleneksel tedavinin etkinligini degistirebilir. Biz, bitkisel urunlerin kullanimi, potansiyel yararlari ve/veya zararlari konusunda, sadece toplumda degil, ayni zamanda saglik calisanlari arasinda farkindalik yaratmanin onemini vurgulamak istiyoruz.

Intrascrotal extratesticular neurofibroma as a possible cause of failed descent in ipsilateral testis.

Intrascrotal extratesticular neurofibromas (IEN) often originate from genitofemoral nerve (GFN) and present as a paratesticular mass. Synchronous presence of IEN and undescended testis has not been reported previously. A 12-year-old boy with neurocutaneous syndrome and congenital giant melanocytic nevi along with IEN and ipsilateral undescended testis is presented, to discuss the underlying pathophysiology of failed testicular descent in the presence of IEN.