Search

Mineralogical and chemical properties, as well as the pozzolanic activities, of the volcanic rocks in the northeast of the Black Sea were examined. Physical and mechanical tests were conducted on samples collected from the study area and the feasibility of using volcanic rocks as pozzolanic admixture in the concrete industry was investigated. Mortar samples containing admixture in the ratios of 0%, 10%, 20%, 30%, 40%, and 50% were prepared by keeping fineness of pozzolanic admixtures fixed. By using these mortar samples, prismatic mortar samples of 4×4×16 cm were prepared and the samples were cured in water. Their 7-, 28-, and 90-day tensile strengths, compressive strengths, and ultrasonic pulse velocity were determined. As a result, it was determined that volcanic rocks can be used to produce blended cement by considering their specific gravity, pozzolanic activities, and compressive strengths. It was noted that increase in trass rate significantly reduced tensile and compressive strength of cement in the early stage as expected.

Concrete is one of the materials in which polymer wastes are utilized. Generally, these wastes are added at specific rates in scientific studies but an important problem of waste polymers is size irregularity. Even when consistent dosage rates are used, variations in polymer size can lead to variability in the physical and mechanical properties of the concrete produced. The aim of this study is to determine physical and mechanical properties of polyvinyl chloride (PVC)-containing concretes. In order to produce normal and high strength concretes, 10%, 20%, and 30% replacement ratios of PVC powder and granules by volume of aggregate are used. Slump, fresh and hardened densities, compressive strength, capillary water absorption, and abrasion were tested on all concrete types. As the PVC ratio increases, important changes are seen in all physical and mechanical concrete properties. The unit weights of the 10%, 20%, and 30% replacement PVC powder concretes are lower by ∼4%, 8%, and 13%, respectively, as compared to the reference mixtures, and the replacement PVC granule concretes are lower by ∼2%, 4%, and 7%. Compressive strength test results showed similar trends. As PVC replacement increases, the capillary water absorption decreases between 10% and 50%, and abrasion decreases between 27% and 77%.

Introduction: Epilepsy is a common multifactorial neurological disease usually diagnosed during childhood. In this study, we present the contribution of consecutive genetic testing to the genetic diagnostic yield of childhood epilepsy., Methods: In 100 children (53 female, 47 male) with epilepsy, targeted sequencing (TS) and clinical exome sequencing (CES) were performed. All cases (n = 100) included in the study were epilepsy patients. In addition, we investigated the genetic diagnosis rates according to the associated co-occurring findings (including developmental delay/intellectual disability, brain malformations, macro-/microcephaly, and dysmorphic features)., Results: The overall diagnostic rate in this study was 33% (n = 33 patients). We identified 11 novel variants in WDR45, ARX, PCDH19, SCN1A, CACNA1A, LGI1, ASPM, MECP2, NF1, TSC2, and CDK13. Genetic diagnosis rates were as follows: cases with developmental delay/intellectual disability 38.7% (24/62) and without developmental delay/intellectual disability 23.6% (9/38); cases with brain malformations 46.8% (15/32) and without brain malformations 25% (16/64); cases with macro-/microcephaly 50% (6/12) and without macro-/microcephaly 28.4% (25/88); and cases with dysmorphic features 48.2% (14/29) and without dysmorphic features 23.9% (17/71)., Conclusion: Genotype-phenotype correlation is even more important in diseases such as epilepsy, which include many genes and variants of these genes in etiopathogenesis. We presented the clinical findings of the cases carrying 11 novel variants in detail, including dysmorphic features, accompanying neurodevelopmental disorders, EEG results, and brain MRI results., (© 2024 International Society for Developmental Neuroscience.)

The SETD1B gene, located on chromosome 12q24, is one of the chromatin-modifying genes involved in epigenetic regulation of gene transcription. The phenotype of pathogenic variants in the SETD1B gene includes intellectual disability, seizures, and language delay (IDDSELD, OMIM 619000). In this study, we present a family consisting of consanguineous parents who died of cancer and their offspring. This family includes two cases diagnosed with autism spectrum disorder (ASD); six cases diagnosed with schizophrenia, bipolar disorder, or schizoaffective disorder; there cases diagnosed with cancer; and five cases who died of unknown causes in early childhood. Three affected members of this family agreed to genetic testing. We used whole exome sequencing. We report a novel in-frame deletion variant of the SETD1B gene in a family with cases diagnosed with schizoaffective disorder and ASD without seizures and intellectual disability. It was found that the phenotypic features were inherited for at least three generations in the family we presented, and it was shown that the pathogenic variant of the SETD1B gene was transmitted from the affected parent to his affected children. In addition, the father was diagnosed with both schizoaffective disorder and leukemia. We proposed an association between rare variants of SETD1B and phenotypes of ASD and schizoaffective disorder without seizures and intellectual disability. The SETD1B gene is included in both the ASD genetic database of SFARI (https://gene.sfari.org/) and the cancer database of COSMIC (https://cancer.sanger.ac.uk/cosmic). However, there are very few reports of SETD1B gene variants as clinical entities. To our knowledge, the SETD1B gene variant has not been previously reported in an individual diagnosed with both a neuropsychiatric disorder and cancer., (© 2024 International Society for Developmental Neuroscience.)

Brunner syndrome is a rare genetic disorder that associated with mutations in the MAOA gene. It has been linked to a number of psychiatric disorders. We present detailed information on psychiatric evaluation of a case carrying a novel MAOA gene variant of p.(Thr408Met). The patient was referred to our clinic with a history of attention problems, motor coordination difficulties and a tendency to bite objects. Following a comprehensive psychiatric evaluation, the patient was diagnosed with developmental coordination disorder, articulation disorder and attention deficit hyperactivity disorder (ADHD). MAOA mutations are rarely reported in the literature. To date, a total of 23 MAOA gene variants, mostly missense variants, have been reported through the HGMD database (Professional 2023.4). Neurodevelopmental symptoms may vary in severity and diversity among patients with Brunner syndrome. Different degrees of intellectual disability have been found in previously reviewed cohorts of Brunner syndrome. In our affected patient, cognitive development and academic achievement were at a similar level to his peers. Additionally, our patient exhibited symptoms suggestive of developmental coordination disorder. Our findings show that genetic mutations in MAOA can lead to a wide range of clinical symptoms and underline the need for comprehensive genetic and clinical evaluations., (© 2024 International Society for Developmental Neuroscience.)

Introduction: Cohen syndrome is a rare disease associated with neurodevelopmental disorders, especially intellectual disability (ID), neutropenia and recurrent infections are consistently reported in cases. Neutropenia is an important part of the syndrome, as well as ID. Homozygous variants in the VPS13B gene, located on chromosome 8q22 and containing 62 exons, have been found to cause Cohen syndrome. Cohen syndrome is commonly diagnosed when dysmorphological findings and developmental delay become more apparent. However, the identification of some findings with increasing age has caused the diagnosis of Cohen syndrome to be delayed., Methods: Cases diagnosed with ID were evaluated using whole-exome sequencing/clinical exome sequencing method. Family segregation analysis was performed using Sanger sequencing. We presented the clinical and genetic findings of three cases diagnosed with Cohen syndrome and their parents in detail., Results: In this study, we presented the occurrence of symptoms in different age groups, and the prognosis of three cases carrying the VPS13B gene variants, including three different variant types: missense, frameshift and nonsense. Although our cases had different variant types, they shared important similarities on the onset period and prognosis of the symptoms. All cases presented hypotonia, difficulties in swallowing, recurrent respiratory tract infections, neutropenia, delay in motor development, ID and hyperactivity. Our cases did not have a diagnosis of autism spectrum disorder. All cases had increased willingness to engage in social communication., Conclusion: We emphasize the importance of early-onset recurrent infections and hypotonia for early diagnosis and preventive genetic counselling in Cohen syndrome., (© 2024 International Society for Developmental Neuroscience.)

The interaction of neurexins (NRXNs) in the presynaptic membrane with postsynaptic cell adhesion molecules called neuroligins (NLGNs) is critical for this synaptic function. Impaired synaptic functions are emphasized in neurodevelopmental disorders to uncover etiological factors. We evaluated variants in NRXN and NLGN genes encoding molecules located directly at the synapse in patients with neuropsychiatric disorders using clinical exome sequencing and chromosomal microarray. We presented detailed clinical findings of cases carrying heterozygous NRXN1 (c.190C > T, c.1679C > T and two copy number variations [CNVs]), NRXN2 (c.808dup, c.1901G > T), NRXN3 (c.3889C > T), and NLGN1 (c.269C > G, c.473T > A) gene variants. In addition, three novel variants were identified in the NRXN1 (c.1679C > T), NRXN3 [c.3889C > T (p.Pro1297Ser)], and NLGN1 [c.473T > A (p.Ile158Lys)] genes. We emphasize the clinical findings of CNVs of the NRXN1 gene causing a more severe clinical presentation than single nucleotide variants of the NRXN1 gene in this study. We detected an NRXN2 gene variant (c.808dup) with low allelic frequency in two unrelated cases with the same diagnosis. We emphasize the importance of this variant for future studies. We suggest that NRXN2, NRXN3, and NLGN1 genes, which are less frequently reported than NRXN1 gene variants, may also be associated with neurodevelopmental disorders., (© 2024 The Authors. Developmental Neurobiology published by Wiley Periodicals LLC.)

Introduction: The objective of our study was to compare erector spinae plane block (ESP) with spinal anaesthesia (SA) for inguinal hernia repair with respect to anaesthetic efficacy, post-operative analgesia, mobilisation, discharge, complication and side effects., Patients and Methods: The study included 52 patients over 50 years of age, with the American Society of Anaesthesia physical status Class I-III. Group ESP ( n = 26) was applied 30 ml of mixed local anaesthetic mixture applied at the L1 level to the plane of the erector spinae and 10 ml of tumescent when necessary, while Group SA ( n = 26) was applied 3 ml of 0.5% bupivacaine at the L3-L4/L2-L3 level., Results: Intraoperative Visual Analogue Scale (VAS) value was lower in Group S, whereas the 6 th -h VAS value was lower in Group ESP ( P < 0.05). There was no significant difference between the VAS values at hour 12 and 24 ( P > 0.05). Reaching post-anaesthesia discharge criteria 9 and time to mobilisation and oral feeding was shorter in Group ESP, whereas post-procedure waiting time was shorter in Group S ( P < 0.05). While the need for post-operative analgesics was higher in Group S ( P < 0.05), there was a high level of patient satisfaction in Group ESP ( P = 0.05). Intraoperative midazolam requirement was lower in Group S, post-operative diclofenac requirement was lower in Group ESP ( P < 0.05), post-operative urinary retention and tremor were higher in Group S ( P = 0.05)., Conclusion: ESP block provides adequate surgical anaesthesia compared to SA (non-inferiority) for inguinal hernia repair. It is associated with less analgesic requirement, low post-operative pain, less complication rate and high patient satisfaction in the post-operative period., (Copyright © 2023 Copyright: © 2023 Journal of Minimal Access Surgery.)

Background: To evaluate the relationship between the number of trinucleotide repeats (TNR) in late-onset Fuchs corneal endothelial dystrophy (FCED) and to compare the endothelial properties of FCED, first-degree relatives, and controls., Methods: Blood samples were collected from FCEDs to determine TNR number. The FCED patients, first-degree relatives, and controls were examined with specular microscopy for central corneal thickness (CCT), endothelial cell density (ECD), pleomorphism and polymegatism, and with corneal topography for specific indicators such as (i) displacement of thinnest point of cornea, (ii) loss of isopachs, (iii) focal posterior surface depression towards anterior chamber., Results: This study included 92 patients with FCED, 92 first-degree relatives, and 96 controls. CCT was thickest in FCEDs (558.0 μm) (p < 0.05) while there was no difference between relatives (533.0 μm) and controls (530.4 μm) (p = 0.845). ECD was decreased in both FCED (2069.2 mm 2 ) and relatives (2171.4 mm 2 ) than controls (2822.9 mm 2 ) (p < 0.05 in both). The presence of pleomorphism and polymegatism was significant in patients with FCED (93.4% and 93.4%, respectively), relatives (86.9% and 86.04%, respectively), and controls (8.33% and 1.04%, respectively) (p < 0.05). Specific topographic indicators differed among the groups (p < 0.05). The mean repeat number of the FCED patients was 17.48 ± 4.54 (12-25) times. The TNR number of FCED cases correlated with the relative CCT (p < 0.05, R = 0.615) and cell density (p = 0.009, R = -0.499)., Conclusions: A strong association between the corneal endothelium in relatives and TNR number of FCEDs was defined. Relatives tended to have fewer corneal endothelial cells, even though they did not have clinical findings., (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Introduction: Autism spectrum disorder (ASD) is a neuropsychiatric disorder characterized by impaired social skills and limited or repetitive behaviors. In this study, we investigated the role of the ABCA13 gene in the etiopathogenesis of ASD., Methods: Single-nucleotide variants were evaluated in 79 ASD patients (59 males +20 females) with no established genetic etiology associated with ASD using whole-exome sequencing/clinical exome sequencing method. Family segregation analysis was performed using Sanger sequencing. We presented the clinical and genetic findings of these cases and their parents in detail., Results: We presented 10 different ABCA13 gene variants in cases with ASD and 10 parents carrying the same ABCA13 gene variant. There of these variants were likely pathogenic and seven variants were classified as variant of uncertain significance. Our cases had a comorbidity rate for attention deficit hyperactivity disorder (ADHD) as 70%. Various types of neuropsychiatric symptoms and diagnoses were detected including ADHD, anxiety disorder, intellectual disability, delay in speech, and febrile convulsion among the parents., Conclusion: To date, very few variants have been reported in the ABCA13 gene. Our findings enrich the role of ABCA13 gene may play a common role in the landscape of neuropsychiatric disorders., Competing Interests: The authors have no conflicts of interest to declare., (© 2023 S. Karger AG, Basel.)

Objective: There are many factors that affect postoperative pain. This study determines the effect of preoperative sex hormone levels on postoperative pain levels in patients undergoing laparoscopic cholecystectomy., Patients and Methods: This study included a total of 89 patients who met the study inclusion criteria. The patients were divided into 3 groups based on their sex and pre and postmenopausal periods: male patients (n = 28), postmenopausal female patients (n = 31), and female patients with normal cycles (n = 30). Normal-cycle women were also regrouped based on their follicular and luteal phases. Data were collected using a descriptive characteristics form, a patient follow-up form, and the Visual Analog Scale., Results: Venous blood samples taken from the patients before surgery were used to measure their levels of estradiol (EST), testosterone (TES), and progesterone levels. Male patients had lower pain levels than female patients. The male patients' Visual Analog Scale scores were inversely related and correlated strongly with their TES levels ( P < 0.05). However, subgroup analyses suggested that their EST level played a primary role in males and that the EST/TES ratio was determinant in the late postoperative period. In female patients, the EST/progesterone ratio was the most determining factor for the level of pain felt in the postmenopausal period, whereas there was no change in the premenopausal period at different stages of the menstrual cycle., Conclusions: Sex hormones were found to be effective in predicting postoperative pain severity., Competing Interests: The authors declare no conflicts of interest., (Copyright © 2024 Wolters Kluwer Health, Inc. All rights reserved.)

Aim: The primary aim of our study was to measure the effect of conventional open thyroidectomy performed for patients with multinodular goiter (MNG) on pulmonary volumes measured with respiratory function tests independent from surgical indications. A secondary aim was to determine whether there was a significant improvement in the complaints due to obstructive symptoms after MNG surgeries., Methods: This study was conducted between October 2020 and June 2022. Patients who were hospitalized to undergo surgery for giant multinodular goiter were prospectively included in the study. Patients were questioned about complaints of pressure, hoarseness, dyspnea, sleep apnea, snoring, and dysphagia before the surgery and during the follow-up 6 months after surgery. In addition, pulmonary function tests were performed preoperatively, 48 hours after surgery and 6 months after surgery. Forced expiratory volume in 0.5 seconds forced expiratory volume in 1 second and forced vital capacity values in pulmonary function test (PFT) measurements were recorded., Results: A total of 55 patients, 42 females and 13 males, mean age 49.54 ± 13.6 years, were included in the study. Although there was a significant decrease in clinical symptoms caused by the thyroid volume within 6 months in patients who were operated for giant MNG there was no significant change in pulmonary function tests. There was a positive correlation between the thyroid volume and nodule weight in patients with MNG., Conclusions: Our results suggest that it is not necessary to follow up with patients without obstructive findings in preoperative pulmonary function tests with pulmonary function tests in the postoperative period.

Introduction: Global developmental delay (DD), intellectual disability (ID), and autism spectrum disorder (ASD) are mainly evaluated under the neurodevelopmental disorder framework. In this study, we aimed to determine the genetic diagnosis yield using step-by-step genetic analysis in 38 patients with unexplained ID/DD and/or ASD., Methods: In 38 cases (27 male, 11 female) with unexplained ID/DD and/or ASD, chromosomal microarray (CMA) analysis, clinical exome sequencing (CES), and whole-exome sequencing (WES) analysis were applied, respectively., Results: We found a diagnostic rate of only CMA analysis as 21% (8/38) presenting 8 pathogenic and likely pathogenic CNVs. The rate of patients diagnosed with CES/WES methods was 32.2% (10/31). When all pathogenic and likely pathogenic variants were evaluated, the diagnosis rate was 44.7% (17/38). A dual diagnosis was obtained in a case with 16p11.2 microduplication and de novo SNV. We identified eight novel variants: TUBA1A (c.787C>G), TMEM63A (c.334-2A>G), YY1AP1 (c.2051&#95;2052del), ABCA13 (c.12064C>T), ABCA13 (c.13187G>A), USP9X (c.1189T>C), ANKRD17 (c.328&#95;330dup), and GRIA4 (c.17G>A)., Conclusion: We present diagnostic rates of a complementary approach to genetic analysis (CMA, CES, and WES). The combined use of genetic analysis methods in unexplained ID/DD and/or ASD cases has contributed significantly to diagnosis rates. Also, we present detailed clinical characteristics to improve genotype-phenotype correlation in the literature for rare and novel variants., Competing Interests: The authors have no conflicts of interest to declare., (Copyright © 2023 by S. Karger AG, Basel.)

Objectives: The aim of this study was to determine indications of invasive, genetic results of conventional karyotyping and chromosomal microarray analysis and culture failure rates to discuss possible solution options and guide our clinical choices., Materials and Methods: Fetal samples were analyzed by conventional karyotyping, array comparative genomic hybridization, fluorescence in situ hybridization., Results: Failure rates of chorionic villus sampling (CVS) and amniocentesis were as follows, respectively: 4.5% and 0.4%. The rates of abnormal genetic results in fetuses with only thickened nuchal translucency and thickened nuchal translucency + USG abnormality were %4.2 and %40, respectively., Conclusions: Abnormal genetic results showed a significant increase in cases of thickened nuchal translucency accompanied by USG abnormalities. Although culture failure rates in the CVS were higher, none of the cases remained inconclusive. Centers with prenatal invasive genetic diagnosis should offer a wide spectrum of genetic tests by medical genetics specialists.

Introduction: Autosomal recessive primary microcephaly (MCPH) is a disorder characterized by congenital microcephaly and intellectual disability without extra-central nervous system malformation. MCPH is a disease with heterogeneity in genotype and phenotype. For this reason, it is important to determine the genetic causes and genotype-phenotype relationship in MCPH, which causes lifelong impairment. In this study, we aimed to evaluate the clinical, genetic, and brain imaging findings of cases diagnosed with MCPH., Methods: Electroencephalogram and brain magnetic resonance imaging were performed for all cases. We evaluated genetic results of the 39 families including cases with suspected MCPH diagnosis., Results: Genetic diagnosis related to MCPH was provided in 11/39 (28.2%) of these families including 13/41 cases (31.7%). Variants of the WDR62 gene were the most common (61.5%) cause, and variants of the ASPM gene were the second most common cause (38.5%). We have found 6 novel variants and 4 previously reported variants in ASPM and WDR62 genes. Main brain imaging findings in our cases were lissencephaly, polymicrogyria, schizencephaly, pachygyria, and cortical dysplasia. Genetic counseling in 2 families whose genetic diagnosis was determined prevented them from having another child with MCPH., Discussion/conclusion: Detection and reporting of novel variants is an important step in eliminating this disorder by providing families with appropriate genetic counseling., Competing Interests: The authors declare no conflicts of interest., (Copyright © 2022 by S. Karger AG, Basel.)

Objectives: Attention-deficit/hyperactivity disorder (ADHD) is a heterogeneous disorder and Sluggish Cognitive Tempo (SCT) might be a second inattention disorder that might be even affected by different attention pathways. SCT is characterized by daydreaming, mental confusion, staring blankly and hypoactivity. In the present study, we evaluated 5 common variants (rs6265, rs3746544, rs1051312, rs133946 and rs133945) located in 3 candidate genes ( BDNF , SNAP25 and SYN III ) that are known to take part in synaptic plasticity and neurotransmitter transmission., Methods: We tested the effects of these variants on neuropsychological findings assessed by a computer-based neuropsychological test battery in children with inattention symptoms (SCT and/or ADHD)., Results: BDNF (rs6265), SNAP25 (rs3746544 and rs1051312) and SYN III (rs133946 and rs133945) polymorphisms were associated with variable cognitive measures. BDNF gene (rs6265) polymorphism Met allele carriers and SNAP25 gene (rs3746544) T allele carriers had an association with the attention domain. SNAP25 gene (rs1051312) C allele carriers were only associated with reaction time scores. Cognitive flexibility, which is one of the key components of executive function evaluation and shifting attention test scores were associated with BDNF (rs6265) Met allele and SYN III (rs133946) gene G allele. SYN III (rs133945) gene C allele carriers had an association with verbal memory correct hit scores., Conclusions: As a conclusion, BDNF , SNAP25 and SYN III genes were associated with specific neurocognitive outcomes in children with inattention symptoms. It is important to note that exploring genotyping effects on neurocognitive functions instead of a heterogeneous psychiatric diagnosis can improve our understanding of psychopathologies.

Microarray-based techniques are an important testing method in etiological studies of intellectual disability and autism spectrum disorder. Interstitial deletion in the p11-p12 region of chromosome 10 is rare, having been reported in just 12 cases to date. Intellectual disability associated with the WAC gene in this region is referred to as DeSanto-Shinawi syndrome . Although all individuals with p11-p12 region of chromosome 10 deletion share a common phenotype involving intellectual disability and dysmorphic features, individuals with DeSanto-Shinawi syndrome usually do not experience the cardiac and neurologic abnormalities or cryptorchidism associated with a 10p11-p12 deletion. With this case report, we aim to expand the phenotypic spectrum of 10p11-p12 deletion. Our patient was a 9-year-old boy with intellectual disability, autism symptoms, dysmorphic features, and behavioral abnormalities. He had no cardiac problems or neurologic symptoms such as hypotonia, feeding difficulties, or seizures. However, he presented cryptorchidism in addition to symptoms that are consistent with DeSanto-Shinawi syndrome. Array comparative genomic hybridization of genomic DNA isolated from a peripheral blood sample revealed a heterozygous deletion in 10p11.23-p12.1, which contains the WAC gene. We discuss our case in the context of a literature review of candidate genes. It is still difficult to establish genotype-phenotype correlations for neurologic, cardiac, and visual symptoms, and cryptorchidism, in individuals with a 10p11-p12 deletion. As more individuals are diagnosed with deletion in this chromosomal region, the associated phenotypes will become clearer., Competing Interests: The authors declare no conflicts of interest., (Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.)

Objective: Pathogenic mutations of the TRAPPC9 gene are the rare genetic causes of autosomal recessive intellectual disability (ID). There are several features that are not fully penetrant such as microcephaly, dysmorphic facial features, obesity, autism spectrum disorder (ASD), attention-deficit hyperactivity disorder (ADHD), and brain abnormalities in TRAPPC9 mutations., Methods: We performed whole-exome sequencing to evaluate 2 Turkish siblings with ASD and ID born to healthy and consanguineous parents. Parental samples were also analyzed, specifically targeting variants detected in these patients., Results: We present a novel homozygous mutation in the TRAPPC9 gene, c.484G>T (p.Glu162Ter). Additionally, we aim to provide a more comprehensive understanding of the clinical features of a novel homozygous TRAPPC9 mutation. In addition to ID, the siblings in this report suffered from ASD and specific stereotypes as hand-flapping behavior., Conclusion: Although there are inconsistencies in the presentation of ASD in TRAPPC9 mutations, repetitive behaviors (hand-flapping) were typical in our cases and several previous reports. The current mutation was described to cause a homozygous premature termination codon that resulted in the absence of the TRAPPC9 protein. We suggest that TRAPPC9 mutations are not only related to ID but also to ASD and hand-flapping behaviors., Competing Interests: The authors declare no conflicts of interest., (Copyright © 2022 by S. Karger AG, Basel.)

Background: The presence of nodules in the thyroid gland is common in iodine-deficient areas of the world. Recently, vitamin D levels were found to be lower than normal and sometimes deficient in malignant nodules of the thyroid., Objective: Evaluate the relationship between the serum vitamin D levels and benign thyroid nodules in euthyroid patients., Design: Cross-sectional., Setting: Tertiary care center in Turkey., Patients and Methods: Patients referred to the general surgery outpatient clinic and diagnosed with thyroid nodules were the study group. The control group consisted of healthy individuals without thyroid nodules. Age, BMI, thyroid ultrasonography, serum 25-hydroxyvitamin D, free T3, free T4, thyroid stimulating hormone, calcium, magnesium, phosphorous, total protein, albumin, glucose, creatinine levels and glomerular filtration rate (GFR) were compared between groups., Main Outcome Measure: Serum 25-hydroxy-vitamin D levels and size of the thyroid nodules., Sample Size and Characteristics: Of 849 individuals, 453 were patients with thyroid nodules and 396 were healthy individuals., Results: The mean serum vitamin D levels of patients with thyroid nodules were significantly lower than controls ( P <.001). Serum vitamin D levels along with serum total protein levels and eGFR were independent variables associated with the presence of a thyroid nodule ( P <.001, p=.005 and P =.017, respectively)., Conclusion: These findings suggest vitamin D deficiency might be one of the pathophysiologic factors in development of thyroid nodules., Limitation: Single-center and possible information bias., Conflicts of Interest: None.

Background: This study was conducted to examine the choroidal thickness of patients with grade 4 hemorrhoids to see if vascular abnormalities in hemorrhoid patients may affect other `parts of the body., Methods: 51 patients diagnosed with grade 4 hemorrhoids in the last two years and 49 healthy volunteers were included. Choroidal evaluation was done by measurements from various points of the choroid using a spectral domain Cirrus HD-OCT (Carl Zeiss Meditec Inc.) in enhanced-depth imaging mode. Choroidal thicknesses were compared between the two groups., Results: Nasal choroidal thickness, temporal choroidal thickness and mean choroidal thickness measurements were significantly higher in the hemoroid group (p<0.05), while subfoveal choroidal thickness did not differ significantly between the groups. Macular thickness was also significantly higher in the hemoroid group compared to the control group (p<0.05)., Conclusion: There was an increase in choroidal thickness in patients with grade 4 hemorrhoids., Key Words: Choroidal thickness, Hemorrhoids, Macular thickness, Optical coherence tomography, Vascular pathologies.

Our aim in this study was to determine the prevalence of cyclical and noncyclical mastalgia, its underlying risk factors, and to examine its effect on women's quality of life. This study was conducted on 415 women, among whom the prevalence of mastalgia was found as 20.7%. It was found that experiencing intense stress, daily coffee and chocolate consumption, breast surgery history and the menstruation pattern were risk factors associated with mastalgia. Some domains of quality of life were found to be negatively affected in women who had mastalgia. Awareness among women about the risk factors of mastodynia and lifestyle changes is needed to improve mastalgia management.

Background E Aims: We aimed to determine whether intraabdominal pressure change caused by pneumoperitoneum created during laparoscopic cholecystectomy (LC) has effects on abdominal and shoulder pain, nausea, vomiting, bowel movements, time of first flatus and defecation, and biochemical parameters., Methods: Seventy patients that were diagnosed with cholelithiasis and would undergo LC, between the ages of 18-75, with the Society of Anesthesia Physical Status (ASA) I-III classifications were included in the study. Patients were divided into two groups as whose intervention was defined as low pressure (8-10 mm/hg) and whose intervention was defined as high pressure (14-16 mm/hg). Differences in the prognoses of patients in both groups were observed for statistical significance., Results: Shoulder pain- visual analogue scale (VAS) values in 6th and 24th hours were lower in Group 1(p<0.005). There was no significant difference in abdominal pain-VAS values(p≥0.05). Mean intraoperative end-tidal carbon dioxide (ETCO2) values were higher in Group 2 (p<0.005). Differences in nausea and vomiting were not significant(p≥0.05). There was no significant difference in the first flatus times(p≥0.05). Bowel movements resumed earlier in Group 1(p<0.005). Changes were not significant for biochemical blood parameters in the preoperative and postoperative periods( p≥0.05)., Conclusion: The use of low-pressure and high pressure carbon-dioxide (CO2)-pneumoperitoneum created during LC does not cause a significant difference in terms of clinical and laboratory results. Therefore, the surgical team should prefer an easy-to-apply pressure level which they are used to and in which they have low complication rates., Key Words: Cholecystectomy, Pneumoperitoneum, Low-pressure CO2.

Background/aim: Although cutting edge procedures such as cell-free fetal DNA isolation from maternal blood are now available, invasive prenatal tests are still being used extensively for prenatal diagnosis. The study aims to evaluate the demographic data, indications, and cytogenetic results of 9297 results of patients who underwent prenatal invasive testing for genetic analysis that were referred for the last 20 years in a University Medical Genetics Center., Materials and Methods: The records of 8363 amniocenteses, 626 chorionic villus, and 308 cordocenteses samples were retrospectively evaluated and analyzed regarding referral reasons, indications and their cytogenetic results. The total numbers and the percentages of each group were recorded; Chi-square and logistic regression analyses were performed to give the statistical likelihood of different events., Results: The number of referrals decreased significantly after 2009. Risk of having trisomy 21 as well as trisomy 13 and 18 significantly increased in parallel with advanced maternal age. When the 21–25 age group was compared to the older age groups in terms of having a trisomy 21 pregnancy, the risk doubled in the 36–40, 5 times higher in 41–45 and 10-fold in 46–50 age groups. No significant linear correlation between maternal serum screening test results and trisomy 21 was found, however the difference between the pregnancies whom cut-off value above and below 1/250 in maternal serum screening test were significant., Conclusion: These data have provided useful information on the frequency of referrals to the reference genetics department, and the feasibility of genetic services. By reviewing the indications and their corresponding results, we can offer invaluable insights that will be useful in genetic counseling and also in the development of more effective genetic strategies., (This work is licensed under a Creative Commons Attribution 4.0 International License.)

Copy number variations (CNVs) have been implied in the etiology of autism spectrum disorder (ASD), and microarray-based techniques are performed as a first-step genetic test. Our aim was to present clinical features and CNV profiles of patients with ASD and their parents. Array-CGH was applied to detect CNVs. Previously as likely pathogenic reported duplications were detected at 16p13.11 and 11p15.2p15.1. Other variants were found in 16p11.2p11.1, 3p14.2, 15q11.2, 10q11.22, 3p26.3, 4q13.3, 22q13.32q13.33, and 1q44 and were classified as variants of unknown significance. Deletion of the FHIT gene was associated with the regression of language and social skills without mental impairment. Paternal inheritance of difficulty in social skills and the FHIT gene was documented. In addition, varying olfactory receptor family genes were implicated in de novo and hereditary CNVs. In this study, we aimed to present the clinical characteristics of the cases and parents in more detail, especially in pathogenic CNV cases, which enables us to increase our knowledge on inherited CNVs and genotype-phenotype correlation. We suggest that both genetic and psychiatric evaluation of the parents of the cases is important for better understanding the clinical relevance of the CNV results., Competing Interests: The authors declare no conflicts of interest., (Copyright © 2020 by S. Karger AG, Basel.)

Objective: Studies to reduce the heterogeneity of attention-deficit/hyperactivity disorder (ADHD) have increased interest in the concept of sluggish cognitive tempo (SCT). The aim of this study was to investigate if the prevalence of two variable-number tandem repeats (VNTRs) located within the 3'-untranslated region of the DAT1 gene and in exon 3 of the dopamine D4 receptor (DRD4) gene differ among four groups (31 subjects with SCT but no ADHD, 146 individuals with ADHD but no SCT, 67 subjects with SCT + ADHD, and 92 healthy controls)., Methods: We compared the sociodemographic profiles, neurocognitive domains, and prevalence of two VNTRs in SCT and ADHD subjects versus typically developing (TD) controls., Results: The SCT without ADHD group had a higher proportion of females and lower parental educational attainment. Subjects in this group performed worse on neuropsychological tests, except for psychomotor speed and commission errors, compared to controls. However, the ADHD without SCT group performed significantly worse on all neuropsychological domains than controls. We found that 4R homozygosity for the DRD4 gene was most prevalent in the ADHD without SCT group. The SCT without ADHD group had the highest 7R allele frequency, differing significantly from the ADHD without SCT group., Conclusion: The 7R allele of DRD4 gene was found to be significantly more prevalent in SCT cases than in ADHD cases. No substantial neuropsychological differences were found between SCT and ADHD subjects.

A 61-year-old male patient presented to our hospital's emergency department with a history of worsening abdominal pain. The symptoms began as epigastric pain and later localized to the right lower quadrant. On physical examination, there was rebound tenderness mainly in the right lower quadrant and in the right upper quadrant. The laboratory results showed leukocytosis. Abdominopelvic computed tomography scan revealed that a definite twisting on the long axis with three complete counter-clockwise turns was observed in the vascular structures of greater omentum. At operation, the greater omentum was found to be twisted and gangrenous. The infarcted omentum was ligated at the pedicle and excised. Primary torsion of the omentum is one of the uncommon causes of acute abdominal pain. Although rarely diagnosed, the entity is important to the surgeon because it mimics the common causes of the acute surgical abdomen. Omental torsion usually occurs on the right side. Abdominal pain starts suddenly after a heavy meal or hard exercise, and is not accompanied with nausea, vomiting and anorexia. Abdominal computed tomography may show peculiar features suggestive of omental torsion. Treatment consists of ligation and resection of the involved portion of the omentum and recovery is usually rapid, uneventful and complete. Primary omental torsion should be considered in the differential diagnosis of acute abdomen. The surgeon must remain aware of the disease and search for it if, at laparotomy, other adequate cause is not found to explain the symptoms, especially if free sero-sanguineous fluid is found in the peritoneal cavity. KEY WORDS: Acute abdomen, Greater omentum, Omental torsion, Omental infarction, Omental necrosis.

Background & Aims: Primary aim of this study is to determine whether the use of local anaesthesia performed with IINB and IHNB against spinal anaesthesia in inguinal hernia repair is accepted as an alternative medicine., Methods: 75 cases in the class of American Society of Anesthesia physical status (ASA) I-III between the ages of 18 and 75 diagnosed with single-sided inguinal hernia and hospitalized for surgery in general surgery clinic were prospectively and randomly included in this study., Results: There was statistically significant difference between the groups (30.14 ± 8.2 and 35.51 ± 9.39) in terms of the duration of the surgery. The duration was shorter in Group 1 (p < 0.001). There was statistically significant difference between the groups in terms of the duration of the first mobilization. It was significantly shorter in Group 2 than in Group 1 (5.71 ± 1.7 and 2.70 ± 1.53 min) (p < 0.001). Mean duration of length of hospital stay criteria was significantly shorter in Group 2 than in Group 1 (26.00 ± 6.43 and 14.23 ± 5.40 h) (p < 0.001). Throughout the follow-up period in postoperative 24 h, the number of patients who needed analgesia was significantly higher in Group 1 than in Group 2 (91.4% and 45.7%) There was statistically significant difference between the groups in terms of patient satisfaction and urinary retention development (p < 0.005). Hematoma development or postoperative bleeding was not observed in either group. The time of sensory block onset was significantly higher in Group 2 than in Group 1 (9.66 ± 1.41 and 9.03 ± 0.98 min) (p < 0.005) CONCLUSION: The results of our study show that IINB and IHNB applied with local anaesthesia are superior to spinal anaesthesia in unilateral inguinal hernia repairs.

Objectives Fabry disease (FD, OMIM #301500) is a rare and progressive X-linked lysosomal storage disorder. FD is caused by mutations in the GLA gene on chromosome Xq22. Methods In this article, we aimed to present the largest sample of GLA mutation spectrum including common and novel variants in Turkish population. GLA gene sequence analysis was performed on the subjects who applied to the department of medical genetics with the preliminary diagnosis of FD between 2013 and 2018. Results We detected 22 different mutations as two novel [(p.F69S(c.206T>C), p.P205A (c.613C>G)] and 20 previously reported GLA mutations in 47 individuals from 22 unrelated families. These mutations included 14 missense mutations, four nonsense mutations, two small deletions, one small deletion/insertion and one small insertion. Major clinical findings of the female case with p.F69S(c.206T>C) mutation were cornea verticillata, acroparesthesia, angiokeratoma, psychiatric and gastrointestinal symptoms. Other novel mutation (p.P205A [c.613C>G]) was carried by a male case presenting gastrointestinal symptoms. Conclusions We described clinical findings of two cases that had novel mutations to provide more insight in genotype-phenotype correlation. We presented the largest mutation spectrum in Turkish population and reviewed previous mutations in this article.

There is a debate how different ADHD cases with a comorbid sluggish cognitive tempo (SCT) phenotype are from subjects with a pure inattentive ADHD presentation (ADHD-restrictive inattentive presentation). In this study, 214 patients aged 8-15 years from an ADHD outpatient clinic were assessed, and 100 typically developing controls (TD) were recruited as comparisons. No psychiatric comorbidities except for oppositional defiant disorder were allowed. We compared 29 cases with ADHD + SCT with 34 ADHD-RI cases and 92 TD subjects on sociodemographic profiles, CBCL subscales scores and neurocognitive findings. Regarding sociodemographic profiles (age, gender and parental education) and CBCL subscales, ADHD + SCT and ADHD-RI cases did not differ in any score (all p > 0.05). Comparing with SCT cases, ADHD-RI cases presented slower psychomotor speed and worse neurocognitive index (p < 0.001). We found that only SCT was independently associated with a lower performance in total memory score. ADHD-RI was independently associated with longer reaction time. Our findings suggest that although SCT might be expected to present longer reaction time, we found that slower psychomotor speed and longer reaction time scores were related to inattention. Overall, SCT and ADHD-RI groups were distinguished by differential associations with measures of memory and reaction time.

Background: Majority of the incidentally discovered adrenal masses, called adrenal incidentaloma (AI), are nonfunctioning adrenal adenomas. The appropriate management of AI is still a matter debate, so it is necessary to investigate their associated morbidity. However, data regarding morphological and functional cardiac alterations are limited in this group., Objective: In this study, we aimed to assess cardiac structural and functional characteristics and atrial conduction properties in patients with nonfunctioning AI., Methods: Thirty patients with nonfunctioning AI and 46 properly matched control subjects were included in the study. After hormonal and biochemical analysis, all participants underwent transthoracic echocardiography to obtain systolic and diastolic parameters of both ventricles, in addition to atrial conduction times by tissue Doppler echocardiography. Data were analyzed with Statistical Package for the Social Sciences (SPSS, Chicago, IL, United States) statistics, version 17.0 for Windows. P < 0.05 was considered statistically significant., Results: Left ventricular (LV) mass index and LV myocardial performance index were significantly increased in AI group. Among atrial conduction times, both intra- and interatrial electromechanical delays were significantly prolonged in patients with nonfunctioning AI. Other laboratory and echocardiographic findings were similar between groups., Conclusion: Our study revealed that intra- and inter-atrial conduction times were prolonged, and LV mass index was increased in patients with nonfunctioning AI. These findings may be markers of subclinical cardiac involvement and tendency to cardiovascular complications. Close follow-up is necessary for individuals with nonfunctioning AI for their increased cardiovascular risk.

Context: Although very preterm (VP), extremely preterm (EP), very low birth weight (VLBW), and extremely low birth weight (ELBW) newborns seem to have a higher risk of later attention-deficit/hyperactivity disorder (ADHD), the magnitude of the risk is not well-defined., Objective: To systematically review and meta-analyze the risk of VP/VLBW and EP/ELBW individuals to develop a ADHD categorical diagnosis or dimensional symptomatology compared with controls with normal weight and/or birth age., Data Sources: We used PsycINFO, Medline, Embase, and Cochrane databases., Study Selection: We selected cross-sectional, prospective, or retrospective studies with no time or language restriction., Data Extraction: Independent reviewers screened and extracted data using predefined standard procedures., Results: In 12 studies ( N = 1787), researchers relying on a categorical diagnosis showed that both VP/VLBW and EP/ELBW subjects have a higher ADHD risk (odds ratio [OR] = 3.04 higher than controls; 95% confidence interval [CI] 2.19 to 4.21). In subgroup analyses, we demonstrated that the more extreme the cases, the higher the ORs (VP/VLBW: OR = 2.25 [95% CI 1.56 to 3.26]; EP/ELBW: OR = 4.05 [95% CI 2.38 to 6.87]). We drew data from 29 studies ( N = 3504) on ADHD symptomatology and found significant associations with inattention (standardized mean difference [SMD] = 1.31, 95% CI 0.66 to 1.96), hyperactivity and impulsivity (SMD = 0.74, 95% CI 0.35 to 1.13), and combined symptoms (SMD = 0.55, 95% CI 0.42 to 0.68) when compared with controls., Limitations: Heterogeneity was significantly high for all analyses involving the 3 ADHD dimensions., Conclusions: With our results, we provide evidence that VP/VLBW subjects have an increased risk of ADHD diagnosis and symptomatology compared with controls, and these findings are even stronger in the EP/ELBW group. Future researchers should address which risk factors related to prematurity or low birth weight lead to ADHD., Competing Interests: POTENTIAL CONFLICT OF INTEREST: Dr Moreira-Maia received fees for the development of educational materials for Novartis, Libbs, and Pfizer and served as a consultant to or on the speakers’ bureau of Novartis and Shire. Dr Moreira-Maia also received travel awards from the Health Technology Assessment Institute and the Federal University of Rio Grande do Sul and travel, accommodation, and registration support to the fourth and fifth World Congress on attention-deficit/hyperactivity disorder (ADHD) from the World Federation of ADHD. Dr Rohde has received grant or research support from, served as a consultant to, and served on the speakers’ bureau of Eli Lilly and Co, Janssen, Medice, Novartis, and Shire. The ADHD and Juvenile Bipolar Disorder Outpatient Programs chaired by Dr Rohde have received unrestricted educational and research support from the following pharmaceutical companies: Eli Lilly and Co, Janssen, Novartis, and Shire. Dr Rohde has received travel grants from Shire to take part in the 2015 World Congress on ADHD; the other authors have indicated they have no potential conflicts of interest to disclose., (Copyright © 2018 by the American Academy of Pediatrics.)

Objective: The aim of this study was to discover Turkish regional differences in the risk factors of newborn hearing loss., Method: A multi-centered retrospective design was used. A total of 443 children, registered to the national newborn hearing screening programme, with bilateral hearing loss, from five different regions of Turkey, were evaluated in terms of the types of hearing loss, the degree of hearing loss, the types of risk factors, parental consanguinity, age at diagnosis and age of auditory intervention, respectively., Results: There was no significant difference in the prevalence of hearing loss between regions (χ 2  = 3.210, P = 0.523). Symmetric Sensorineural Hearing Loss (SSHL) was the most common type of HL in all regions (91.8%). Profound HL was the most common degree of HL in all regions (46.2%). There were statistically significant differences between regions in terms of types of HL (χ 2  = 14.151, P = 0.000). As a total, 323 (72.9%) of subjects did not have any risk factors. There were statistically significant differences between regions in terms of the types of risk factors (pre, peri and post-natal) for SSNHL (χ 2  = 16.095, P = 0.000). For all regions, the age of diagnosis was convenient with the JCIH criteria. However the age of hearing aid application was prolonged in some regions. There were statistically significant differences between regions in terms of the age of diagnosis (χ 2  = 93.570, P = 0.000) and the age of auditory intervention (χ 2  = 47.323, P = 0.000). The confounding effects of gender, age of diagnosis, age of hearing aids applications, HL in the family, types of risk factors for HL on SSNHL were detected., Conclusion: To reach the goal of a high quality newborn hearing screening, there is a need to develop an evidence-based standard for follow up guideline. In addition, risk factors should be re-evaluated according to regional differences and all regions should take their own precautions according to their evidence based data., (Copyright © 2017 Elsevier B.V. All rights reserved.)

The American Psychiatric Association (APA) working group on Attention-Deficit/Hyperactivity Disorder (ADHD) proposed the inclusion of four new impulsivity symptoms. However, they were not included in DSM-5 due to the lack of sufficient evidence. The aim of this study is to investigate the performance of the proposed four ADHD impulsivity symptoms with respect to: (a) ADHD factor structure; (b) performance in predicting clinical impairment; (c) specificity for ADHD diagnosis and (d) best symptomatic threshold to predict clinical impairment. The sample comprised 416 children (31 ADHD subjects according to both DSM-IV and proposed DSM-5, 20 ADHD subjects according to just one diagnostic system and 365 controls) from 12 schools. Diagnoses were derived using semi-structured interviews and ADHD rating scales. Results from confirmatory factor analysis indicate that addition of the four new impulsivity items provided a slightly better factor structure if compared to models including only 18 items. Regression analyses showed that only one of the new impulsivity symptoms (impatient) was part of the list of best predictors of impairment. None of the four new impulsivity items was specifically associated with ADHD diagnosis. The best cutoff point in the hyperactivity/impulsivity dimension for predicting impairment did not change significantly. Overall, our findings suggest that the determination on how to best capture impulsivity dimension as part of the ADHD construct needs more investigation and that there is not enough evidence to include these four assessed impulsivity symptoms as part of the ADHD criteria.

The asymmetric unit of the title compound, C6H5Cl2NO2S, contains two mol-ecules with similar conformations (r.m.s. overlay fit for the non-H atoms = 0.067 Å). Atoms attached to the pendent Csp (3)-S bond are arranged in a staggered conformation with one of the Cl atoms anti to the C atom in the aromatic ring [C-S-C-Cl torsion angles = 178.41 (11) and -176.70 (13)°]. In the crystal, mol-ecules are linked by C-H⋯N and C-H⋯O hydrogen bonds, generating a three-dimensional network, and weak aromatic π-π stacking is also observed [centroid-centroid separation = 3.8902 (17) Å].

Background: Newborn screening tests have been designed to identify infants with severe disorders that are relatively prevalent and treatable or controllable. Comparing to other countries, the incidence of these diseases are very high in Turkey where the rate of consanguineous marriage is high., Methods: In this article, it is aimed to evaluate the development and organization of newborn screening programs in Turkey which include phenylketonuria, congenital hypothyroidism and biotinidase deficiency screenings. The point reached today, limitations of the program, expectations and projects for the future are discussed., Results: Today, the point reached in screening programs of the country is appreciable. While the screening rate of the live born babies was 4,7% in 1987, this rate reached to 95% by 2008. Predicted target for newborn screening program at the strategic plan of Ministry of Health for 2010-2014 was to enhance this rate above 95% by the end of 2012. It seems that the envisaged goal has been reached., Conclusion: National newborn screening program appears to be conducted successfully and extensively as a result of political determination and performance of health care workers who are in charge of this program. Nevertheless, limited numbers of the nutrition and metabolism clinics and specialists on these branches have caused some access difficulties, waste of time, and financial loss. Therefore, special planning to improve quality and the number of the clinics would be useful., (© 2013 Wiley Periodicals, Inc.)

Objective: Newborn hearing screening (NHS) works well for babies with bilateral hearing loss. However, for those with unilateral loss, it has yet to be established some standard rules like age of diagnose, risk factors, hearing loss degree. The aim of this study is to identify the demographic characteristics of newborns with unilateral hearing loss to obtain evidence based data in order to see what to be done for children with unilateral hearing loss (UHL)., Method: Newborn hearing screening data of 123 babies with unilateral hearing loss, 71 (57.7%) male and 52 (42.3%) female, were investigated retrospectively. Data provided from the archives of six referral tertiary audiology centers from four regions in Turkey. Data, including type of hearing loss; age of diagnosis; prenatal, natal and postnatal risk factors; familial HL and parental consanguinity was analyzed in all regions and each of the Regions 1-4 separately., Result: The difference between data obtained in terms of gender and type of hearing loss was detected as statistically significant (p<0.05). While UHL was significantly higher in females at Region 1, and in males at other Regions of 2-4; SNHL was the most detected type of UHL in all regions with the rate of 82.9-100.0%. There were not significant differences between regions in terms of the degree of hearing loss, presence of risk factors, family history of hearing loss, age at diagnosis and parental consanguinity (p>0.05). Diagnosis procedure was completed mostly at 3-6 months in Region 4; whereas, in other regions (Regions 1-3), completion of procedure was delayed until 6 months-1 year., Conclusion: This study indicates that the effect of postnatal risk factors, i.e. curable hyperbilirubinemia, congenital infection and intensive care is relatively high on unilateral hearing loss, precautions should be taken regarding their prevention, as well as physicians and other health personnel should be trained in terms of these risks. For early and timely diagnosis, families will be informed about hearing loss and NHS programme; will be supported, including financial support of diagnosis process. By dissemination of the NHS programme to the total of country by high participation rate, risk factors can be determined better and measures can be increased. Additionally, further studies are needed with more comprehensive standard broad data for more evidence based consensus., (Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.)

Objective: In this review, we have presented the data of our National Newborn Hearing Screening Program (NNHSP) with total 764,352 newborns those screened in last five years., Methods: National Newborn Hearing Screening Program (NNHSP) has been conducted in Turkey since the year 2003. National Newborn Hearing Screening Program (NNHSP) had begun at the end of 2003 only in 1 center. After birth, in the third day, Transient Evoked Otoacoustic Emissions (TEOAEs) test criteria and if necessary, auditory brain response (ABR) testing evaluation methods were applied to newborn. The children diagnosed with hearing loss were further referred for advanced treatment and rehabilitation to advanced audiologic centers., Results: After five years of carrying out the program (between 2004 and 2008) a total number of 764,352 newborns were screened for hearing impairment. In the year 2008, National Newborn Hearing Screening Program (NNHSP) had given the chance for 2136 children with various types of hearing loss (320 with unilateral and 417 with bilateral hearing loss) to detect and refer to more experienced centers for further treatment., Conclusions: Our results indicate that the necessity of newborn hearing screening is an indispensable issue. We have been targeted to develop National Newborn Hearing Screening Program (NNHSP) till given chance to access for every newborn in Turkey in next five years.

As with most endocrine tumors, the malignant potential depends on evidence of local or distant invasion (metastasis), so it is important to differentiate synchronous/metachronous endocrine tumors from their metastases. A 90-year-old man was operated due to tumor of the ampulla of Vater. As the surgical specimen was examined macroscopically, a second tumor focus, measuring 1 cm in diameter, was detected at the duodenum. There were no clinical syndromes due to hormone hypersecretion. Microscopically, the ampullary tumor had trabecular and rosette-like patterns, with many necrotic areas. It had invaded the muscularis mucosa at the duodenal wall. The latter duodenal tumor was located in the submucosa and had distinct borders. This tumor consisted of trabecular structures with stroma rich in lymphoid aggregates. Immunohistochemistry revealed positivity for synaptophysin and gastrin and negativity for somatostatin. In addition, the whole antral portion of the Whipple resection material showed diffuse parietal cell hyperplasia. The tumors were diagnosed as well-differentiated endocrine carcinoma in the ampulla of Vater according to the WHO classification 2000, a gastrin-producing well-differentiated endocrine tumor in the first portion of the duodenum without regional lymph node metastases, and a diffuse parietal cell hyperplasia at the antral portion of the stomach. In conclusion, clinical findings and the postoperative diagnosis suggest that this patient had primary synchronous neuroendocrine tumors of the small intestine.