Binge eating symptomatology in adolescents with polycystic ovary syndrome.

Several factors may contribute to binge eating behaviors in PCOS. However, findings are contradictory and studies in the adolescence are limited. We aimed to evaluate the eating attitudes of adolescents with PCOS and the possible etiological factors underlying the association between PCOS and binge eating symptomology. Between 2019 and 2022, 46 newly diagnosed adolescents with PCOS and 56 controls matched for age and BMI z-score were included. The Eating Disorder Examination Questionnaire, Three Factor Eating Questionnaire-R18, and a questionnaire assessing postprandial reactive hypoglycemia symptom severity were given. Binge eating symptomology, in terms of over, uncontrolled, and emotional eating, were more prevalent in the PCOS group. Uncontrolled, emotional, and binge eating were positively correlated with postprandial reactive hypoglycemia symptom score. Overeating was also associated with clinical hyperandrogenism. Improving the disease outcome and reducing the future complications requires early recognition and management of emotional and uncontrolled eating behaviors in adolescents with PCOS.

An Assessment of the Quality of YouTube Videos as a Resource for Adolescents Experiencing Abnormal Uterine Bleeding.

STUDY OBJECTIVE: YouTube, the largest accessible media-sharing platform, has become an important tool for pursuing health-related information. Adolescents may find it challenging to seek counseling or access adolescent-friendly services for menstruation-related problems, so YouTube may be a useful resource. The aim of this study was to examine the reliability, quality, and accuracy of YouTube videos concerning abnormal uterine bleeding in adolescents. METHODS: A YouTube search using the key words "adolescent, teens, heavy period, abnormal uterine bleeding, heavy menstrual bleeding" yielded 109 videos. Video features (duration, time since upload, likes, views, comments), sources of upload, and content were recorded. All the videos were reviewed by 2 adolescent medicine specialists and scored using the Journal of the American Medical Association, the 5-point modified DISCERN tool, and the Global Quality Scale. RESULTS: Fifty-eight videos met the inclusion criteria. Most (62.1%) were created by non-professionals, and a significant portion (81%) contained general descriptions. On the basis of the DISCERN classification, 50% exhibited poor quality. Similarly, the Journal of the American Medical Association assessment indicated that only 36.2% satisfied the requirements for good quality. The videos uploaded by professionals exhibited notably superior quality in comparison with those uploaded by non-professionals. Additionally, higher-quality videos were longer (P = .040) and more recent (P = .011). CONCLUSION: Mot YouTube videos about adolescent abnormal uterine bleeding provide low-quality information. We believe that increasing the number of videos tailored by health care providers specializing in adolescent gynecology to address the specific physical and psychosocial needs of adolescents with menstrual problems would be beneficial.

Decreased antioxidant capacity with serum native thiol and total thiol levels in children with hemophilia A: a prospective case-control study.

BACKGROUND: Experimental studies have addressed the role of oxidant stress in the pathogenesis of Hemophilia A. This study aimed to determine whether dynamic thiol-disulfide exchange, a recently recognized cellular defense system against oxidative stress, is disturbed in children with hemophilia A. METHODS: This prospective case control study included male children with hemophilia A (n=62) and randomly selected healthy age and sex-matched controls (n=62). Serum native thiol, total thiol and disulfide levels were analyzed with a novel spectrophotometric method. Ratios of disulfide/total thiol, disulfide/native thiol, and native/total thiol were calculated. Statistical comparisons were made using the independent samples t-test or the Mann-Whitney U test, according to whether the data were normally distributed or not. RESULTS: Serum native thiol (385.0 ± 35.9 versus 418.0 ± 44.3, respectively; p < 0.001) and total thiol (424.2 ± 38.7 versus 458.0 ± 46.3, respectively; p > 0.001) levels were significantly lower in children with Hemophilia A compared to controls. Children with hemophilia A had significantly lower serum native thiol to total thiol ratio than controls (p=0.024). Serum disulfide levels of children with hemophilia A were close to controls (19.2 [17.6- 22.1] versus 19.8 [17.8- 21.2]), respectively; p=0.879) whereas disulfide to native thiol ratio (p=0.024) and disulfide to total thiol ratio (p=0.024) were significantly higher. CONCLUSIONS: Decreased antioxidant capacity with levels of serum native thiol and total thiol in children with hemophilia A might be regarded as evidence for the disturbance of thiol/disulfide balance. Antioxidant treatment can be a future target of therapy in children with hemophilia A.

Extracellular matrix-inducing Sox9 promotes both basal progenitor proliferation and gliogenesis in developing neocortex.

Neocortex expansion is largely based on the proliferative capacity of basal progenitors (BPs), which is increased by extracellular matrix (ECM) components via integrin signaling. Here we show that the transcription factor Sox9 drives expression of ECM components and that laminin 211 increases BP proliferation in embryonic mouse neocortex. We show that Sox9 is expressed in human and ferret BPs and is required for BP proliferation in embryonic ferret neocortex. Conditional Sox9 expression in the mouse BP lineage, where it normally is not expressed, increases BP proliferation, reduces Tbr2 levels and induces Olig2 expression, indicative of premature gliogenesis. Conditional Sox9 expression also results in cell-non-autonomous stimulation of BP proliferation followed by increased upper-layer neuron production. Our findings demonstrate that Sox9 exerts concerted effects on transcription, BP proliferation, neuron production, and neurogenic vs. gliogenic BP cell fate, suggesting that Sox9 may have contributed to promote neocortical expansion.

Severe neurodegenerative disease in brothers with homozygous mutation in POLR1A.

In two brothers born to consanguineous parents, we identified an unusual neurological disease that manifested with ataxia, psychomotor retardation, cerebellar and cerebral atrophy, and leukodystrophy. Via linkage analysis and exome sequencing, we identified homozygous c.2801C>T (p.(Ser934Leu)) in POLR1A (encoding RPA194, largest subunit of RNA polymerase I) and c.511C>T (p.(Arg171Trp)) in OSBPL11 (encoding oxysterol-binding protein-like protein 11). Although in silico analysis, histopathologic evidence and functional verification indicated that both variants were deleterious, segregation with the patient phenotype established that the POLR1A defect underlies the disease, as a clinically unaffected sister also was homozygous for the OSBPL11 variant. Decreased nucleolar RPA194 was observed in the skin fibroblasts of only the affected brothers, whereas intracellular cholesterol accumulation was observed in the skin biopsies of the patients and the sister homozygous for the OSBPL11 variant. Our findings provide the first report showing a complex leukodystrophy associated with POLR1A. Variants in three other RNA polymerase subunits, POLR1C, POLR3A and POLR3B, are known to cause recessive leukodystrophy similar to the disease afflicting the present family but with a later onset. Of those, POLR1C is also implicated in a mandibulofacial dysostosis syndrome without leukodystrophy as POLR1A is. This syndrome is absent in the family we present.

Comparison of Regularity Detection between Individuals with and without Speech-in-Noise Problems using Electrophysiological Methods.

OBJECTIVE: To analyze the cortical representations of auditory regularities and the relation between these representations and speech-in-noise (SIN) abilities and to compare two groups of participants with different SIN abilities on these cortical measures. MATERIALS AND METHODS: In total, 22 participants aged 20-40 years with normal hearing and without noise exposure, brain stem level-processing issues, neurological/psychiatric issues, or related medication were presented with three different stimuli resembling auditory regularities appearing after random sounds as well as a random series of sounds. Participants received a total of 480 stimuli in passive and active phases each (in which they actively detected regularities). Evoked responses were recorded via 20-channel standard electroencephalography (EEG) cap. RESULTS: The groups were not significantly different in terms of evoked potential parameters. A significant negative correlation was observed between amplitudes of responses evoked by decreasing the frequency regularity in the active phase and SIN scores. Response parameters were significantly different between the stimuli. Active phase latencies were shorter and amplitudes were higher than passive phase ones, except for two stimuli. CONCLUSION: Cortical representations of decreasing frequency regularity are promising for revealing the link between SIN and representations of regularity detection. This paradigm is suggested to applicable to individuals with clinical-level SIN problems [hearing aid (HA) and cochlear implant (CI) users, normal-hearing individuals, children with learning problems, children with dyslexia, and others] to reveal which process of SIN mechanism is defective; this is a complicated process with many sub-mechanisms. These results may be utilized in designing CI and HA algorithms (for more robust representations of auditory regularities) and rehabilitation programs.

Seroprevalence of Toxoplasma, Rubella, and Cytomegalovirus among pregnant women in Van.

OBJECTIVE: To determine the seroprevalence of anti-Toxoplasma, anti-Rubella, and anti-Cytomegalovirus (CMV) antibodies among pregnant women receiving prenatal care at Van Training and Research Hospital. MATERIALS AND METHODS: In developing countries, various infectious agents encountered in the gestational period are important because they influence both maternal and fetal health. Among these, Toxoplasma gondii, Rubella and CMV are quite prevalent. In the present study, anti-Toxoplasma, anti-Rubella and anti-CMV antibodies were analyzed in the serum samples obtained from women receiving prenatal care at Van Training and Research Hospital between June 2012 and July 2013, and positive serum samples were retrospectively evaluated. Anti-Toxoplasma, anti-Rubella and anti-CMV antibodies were analyzed using ELISA with Cobas 4000 e411 (Roche, Germany) and Architect i2000SR (Abbott Diagnostics, Germany) analyzers. RESULTS: Over the course of the study period, the results of a total of 9809 patients were investigated in terms of anti-Toxoplasma, anti-Rubella, and anti-CMV antibodies. Anti-Toxoplasma, anti-Rubella, and anti-CMV IgM and IgG antibody positivity rates were 1.1%, 0.5% and 2.6%, and 37.6%, 86.5% and 100%, respectively. CONCLUSION: Anti-Toxoplasma IgG antibody positivity rates determined in the present study were lower as compared with the results of the other studies reported from Turkey. However, CMV IgM and IgG antibody positivity rates were be higher as compared with those reported in the literature.

Truncating mutations in TAF4B and ZMYND15 causing recessive azoospermia.

BACKGROUND: Azoospermia is the absence of a measurable level of spermatozoa in the semen. It affects approximately 1% of all men, and the genetic basis of the majority of idiopathic cases is unknown. We investigated two unrelated consanguineous families with idiopathic azoospermia. In family 1, there were three azoospermic brothers and one oligozoospermic brother; and in family 2, there were three azoospermic brothers. Testis biopsy in the brothers in family 2 had led to the diagnosis of maturation arrest in the spermatid stage. METHODS: Candidate disease loci were found via linkage mapping using data from single nucleotide polymorphism genome scans. Exome sequencing was applied to find the variants at the loci. RESULTS: We identified two candidate loci in each family and homozygous truncating mutations p.R611X in TAF4B in family 1 and p.K507Sfs*3 in ZMYND15 in family 2. We did not detect any mutations in these genes in a cohort of 45 azoospermic and 15 oligozoospermic men. Expression studies for ZMYND15 showed that the highest expression was in the testis. CONCLUSIONS: Both genes are known to have roles in spermatogenesis in mice but neither has been studied in humans. To our knowledge, they are the first genes identified for recessive idiopathic spermatogenic failure in men. Assuming that recessive genes for isolated azoospermia are as numerous in men as in mice, each gene is possibly responsible for only a small fraction of all cases.

[Turkish expressive and receptive language test: I. Standardization, reliability and validity study of the receptive vocabulary sub-scale]. / Türkçe Ifade Edici ve Alici Dil (TIFALDI) Testi: I. Alici Dil Kelime Alt Testi Standardizasyon ve Güvenilirlik Geçerlik çalismasi

OBJECTIVE: A reliable, valid and original test to assess the receptive vocabulary skills of children in Turkey was not available. Thus, the purpose of the current study was to develop a receptive vocabulary test for Turkish children based on the Turkish language. MATERIALS AND METHODS: For the Receptive Vocabulary Sub-Scale (TIFALDI-RT) 242 concrete and abstract words were chosen from word frequency lists and a comprehensive Turkish Dictionary. Pilot data were collected from 648 children aged 2 to 13 from Ankara, and norm data were collected from a nationally representative sample of 3755 children. RESULTS: Item analysis (item difficulty, discrimination and distractor) was carried out on the pilot data and based on the results, the total item number was reduced to 157. Further, three parameter item analyses (IRT) were carried out on the norm data by using BILOG-MG (SSI, 2002), and the results indicated that the TIFALDI Receptive Vocabulary Sub-Scale could be reduced to 104 items to assess 2 to 12 year-old children's receptive vocabulary. Test-retest and internal consistency reliabilities were calculated for the whole sample and age groups separately, and all the coefficients were high. For the validity, the relationship between the WISC-R and Ankara Developmental Screening Inventory (AGTE) and Receptive Vocabulary Sub-Scale were investigated. Once again, the TIFALDI Receptive Vocabulary Sub-Scale scores were found to be significantly related to WISC-R and AGTE scores. CONCLUSION: The TIFALDI Receptive Vocabulary Sub-Scale was developed on the basis of the Turkish Language and norm data were collected from a nationally representative sample. The TIFALDI-RT also had a high reliability and validity. Thus, the TIFALDI-RT can be used to assess 2 to 12 year-old children's receptive vocabulary skills.

TBC1D24 truncating mutation resulting in severe neurodegeneration.

BACKGROUND: Recessive TBC1D24 gene mutations have been described in two families: an Italian family afflicted with familial infantile myoclonic epilepsy, and an Arab family with focal epilepsy and intellectual disability syndrome. The patients in the Italian family were compound heterozygous for two mutations, whereas those in the Arab family were homozygotes. All three mutations were missense and were determined to be loss of function. We conducted a gene search in a family we previously reported with a severe, lethal epileptic encephalopathy mapping at 16pter-p13.3. METHODS: Exome sequencing and subsequent Sanger sequencing of TBC1D24 exons were conducted. Sanger sequencing was used to determine the structures of novel mRNA isoforms. The abundance of mRNA isoforms was assessed via real-time quantitative PCR. RESULTS: A homozygous two-base pair deletion leading to premature termination and two novel TBC1D24 transcript isoforms were identified. Isoform 1 is predominant in the brain whereas isoform 2 is predominant in non-neural tissues, except for muscle. CONCLUSIONS: The very severe phenotype in our patients can be attributed to mutation severity; however, the mutation does not affect isoform 2, whereas the three previously reported mutations do. These findings expand the spectrum of the TBC1D24 mutation phenotype and the transcript isoforms.

[Self and significant other assessment of hearing device aided communication skills in the elderly with hearing loss]. / Isitme kaybi olan yaslilarda isitme cihazi destekli iletisim becerilerinin kendileri ve yakinlari tarafindan degerlendirilmesi.

OBJECTIVES: This study aims to evaluate the communication problems of elderly before and after using hearing aids. PATIENTS AND METHODS: Thirty hearing aid users and 10 normal hearing control subjects with their relatives were enrolled in the study. Hearing aid users were divided into three subgroups based on the duration of use. Self Assessment of Communication (SAC) and Significant Other Assessment of Communication (SOAC) questionnaires were administered to hearing aid users, control subjects, as well as to their relatives for the evaluation of communication difficulties due to hearing loss. Intra-group comparisons were carried out in the patients using hearing aids, while inter-group comparisons were performed to evaluate the effects of different aided periods on communication skills. RESULTS: It was found that the communication difficulties reduced in the patients who used hearing aid for minimum one month. For the patients with hearing loss, hearing aid use of six months or more increased SAC and SOAC scores to a level comparable with control subjects. CONCLUSION: The present study conclude that the elderly patients of 60 years of age or more with moderate sensorineural hearing loss could catch up their normal hearing peers in their communication skills within six months only if they prescribed and used proper hearing aids.

Interacting factors and cellular localization of SR protein-specific kinase Dsk1.

Schizosaccharomyces pombe Dsk1 is an SR protein-specific kinase (SRPK), whose homologs have been identified in every eukaryotic organism examined. Although discovered as a mitotic regulator with protein kinase activity toward SR splicing factors, it remains largely unknown about what and how Dsk1 contributes to cell cycle and pre-mRNA splicing. In this study, we investigated the Dsk1 function by determining interacting factors and cellular localization of the kinase. Consistent with its reported functions, we found that pre-mRNA processing and cell cycle factors are prominent among the proteins co-purified with Dsk1. The identification of these factors led us to find Rsd1 as a novel Dsk1 substrate, as well as the involvement of Dsk1 in cellular distribution of poly(A)(+) RNA. In agreement with its role in nuclear events, we also found that Dsk1 is mainly localized in the nucleus during G(2) phase and at mitosis. Furthermore, we revealed the oscillation of Dsk1 protein in a cell cycle-dependent manner. This paper marks the first comprehensive analysis of in vivo Dsk1-associated proteins in fission yeast. Our results reflect the conserved role of SRPK family in eukaryotic organisms, and provide information about how Dsk1 functions in pre-mRNA processing and cell-division cycle.

Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly.

Lissencephaly is characterized by deficient cortical lamination. Recently homozygous NDE1 mutations were reported in three kindred afflicted with extreme microcephaly with lissencephaly or microlissencephaly. Another severe developmental defect that involves the brain is microhydranencephaly which manifests with microcephaly, motor and mental retardation and brain malformations that include gross dilation of the ventricles with complete absence of the cerebral hemispheres or severe delay in their development. In the three related patients with microhydranencephaly that we had reported previously, we identified a homozygous deletion that encompasses NDE1 exon 2 containing the initiation codon. The mutation is predicted to result in a null allele. Herein we compare the clinical phenotypes of our research patients to those reported as microlissencephaly. The clinical findings in our patients having the fourth NDE1 mutation reported so far widen the spectrum of brain malformations resulting from mutations in NDE1.

[The use of masking level differences in evaluating central auditory processing: the norms for the normal hearing subjects]. / Merkezi isitsel islemleme fonksiyonlarinin degerlendirilmesinde maskeleme düzeyi farki testi: Normal isiten gruptan elde edilen norm degerler.

OBJECTIVES: This study sought to determine whether scores of masking level differences (MLD) were influenced by age and sex and to derive norm values from normal hearing subjects for the Turkish population. STUDY DESIGN: A total of 100 normal hearing subjects were tested in two age groups. Each group consisted of 25 females and 25 males. The mean ages were 21 (range 17 to 24 years) and 31 years (range 25 to 40 years) in group 1 and group 2, respectively. Following pure-tone threshold and speech discrimination tests, the MLD test was performed by using 500 Hz pure-tone and narrow-band noise centered around 500 Hz. The results were analyzed by the ANOVA test. RESULTS: The mean MLD score was 10.92 dB. The upper and lower limits of MLD scores between two standard deviations were 6 and 14 dB, respectively. No significant differences were found between MLD scores with regard to age and sex. CONCLUSION: Since MLD scores are not affected by age and sex, the norm values obtained can be utilized in the investigation of some pathologic conditions.