The European

Intellectual disability (ID) is a lifelong condition that begins during the developmental period, and characterized by significant limitations in intellectual functioning and adaptive behavior including social, conceptual and practical skills. In these case series, we aimed to identify the genetic etiopathogenesis of two male patients with ID from a seven-generation large-Turkish family. Two affected boys with syndromic ID were evaluated. Genome-wide auto zygosity mapping was performed on affected individuals and other available healthy family members for identifying shared chromosomal segments between affected individuals. Critical region co-segregating with the disease was confirmed and narrowed down by short tandem repeat polymorphism markers. Whole exome sequencing was performed to identify the responsible genes and mutations. Sanger sequencing was performed for segregation analysis. We performed a comprehensive genetic analysis to reveal the underlying genetic aetiology of the ...

Objectives: Aquaductal web (AW) is a special form of aqueductal stenosis with similar clinical presentation with idiopathic normal pressure hydrocephalus (iNPH). iNPH is indeed a communicating hydrocephalus syndrome whereas AW is a noncommunicating subtype. Here, we aimed to investigate the similarities and differences between these two different chronic hydrocephalus syndromes in terms of clinical signs and symptoms, response to shunt treatment and postoperative complications. Methods: Forty-one patients who underwent shunt operation with the diagnosis of iNPH or AW at our clinic between January 2010-May 2019 were retrospectively analyzed. Patients were evaluated by age, gender, clinical sign and symptoms, comorbidities, intraoperative and postoperative complications, and early and late postoperative outpatient follow-up findings. Results: Twenty-six patients were classified as iNPH group and 15 patients as AW group. Patients in the AW group were significantly younger (45.5 ± 15.6 ...

Objectives: This study was carried out to determine the traditional practices that women who have just given birth apply to their babies. Methods: The research is descriptive. The participants were recruited from women who had just given birth to 198 women in a maternity hospital. The data was collected through the personal information form. The chi-square test was used to plan the categorical data in detail as the mean of the research data, as numbers, and as percentages. p < 0.05 was accepted as meaning. Results: It was determined that traditional practices frequently used by women; The use of the yellow blanket against jaundice, swaddling so that the waist does not sink in, staying warm, being hard as steel, and having straight legs and the use of salt. It was determined that these practices were applied more by mothers who graduated from primary school. Although the frequency of use of applications such as burying the belly in the garden and throwing it in the water was found...

Objectives: This paper looked into the relation between childhood traumas, resilience, cognitive flexibility, and adult emotion regulation skills in adults. Methods: The sample, which is based on the relational screening model, includes 395 participants (female: 202, male: 193). Sociodemographic Information Form, Childhood Trauma Questionnaire, Connor-Davidson Resilience Scale, Cognitive Flexibility Scale and Cognitive Emotion Regulation Questionnaire were applied to the participants to obtain the research data. Data collection was carried out online (google forms) through convenient sampling. The t-test was used to compare the study's quantitative data, and Pearson Correlation analysis was utilized to test the relationship between the scales. Multiple Linear Regression analysis was used for predictive analysis and finally PROCESS was used for mediator role analysis. Results: The investigation's findings revealed that there is a statistically significant difference between t...

Objectives: This study aims to determine how the dream themes of borderline personality disorder patients differ from those of without borderline personality disorder diagnosis and the mediating role of rejection sensitivity in this differentiation process. Methods: The convenience sampling method was used in the study, and the participants were 79 female borderline patients diagnosed with semi-structured interviews with criteria of DSM-5 and 79 female individuals who had not received a psychological diagnosis before and at the study interviews. Sociodemographic Information Form, Dream Themes Scale, Borderline Personality Questionnaire, and Rejection Sensitivity Scale were used in the study. Linear Regression Analysis, Hierarchical Regression Analysis, and Independent Groups T-Test were used during the investigations. Results: Borderline personality disorder patients scored higher in all sub-dimensions of the dream themes scale and rejection sensitivity scale than the control group....

Objectives: While clinical and radiological awareness of the usual, frequent metastatic sites of breast cancer is high, unexpected 'atypical' localisations may be more easily overlooked in the cancer management process. The aim of this article is to contribute to this awareness in order to facilitate and improve the diagnosis and follow-up of breast cancer. Methods: In this study, we retrospectively evaluated breast cancer patients who were diagnosed and followed up between 2017 and 2022 in our hospital, which is an important oncology center. Results: Of the 852 patients included in this study, 79 had an unusual metastasis localization. The most common unusual metastasis sites were mediastinal lymph nodes and brain. These sites were followed by atypical bone involvement, mesenteric lymph nodes, cervical lymph nodes, hilar lymph nodes and surrenal metastases. The most rare metastases were more common in the uterus and ovary, followed by pancreas, parotid gland, spleen, colon,...

Objectives: This study aims to investigate the relationship between pain severity in the early postoperative period and preoperative psychometric factors in individuals undergoing total knee arthroplasty (TKA). Methods: This research was designed as a cross-sectional and descriptive study. Fifty participants undergoing TKA were inpatients at a private hospital's Orthopedics and Traumatology Clinic were included in the study. The same anesthesia protocol (spinal anesthesia) and the same surgical technique were performed on all patients. In data collection, Visual Analogue Scale (VAS), Beck Depression Inventory (BDI), Beck Anxiety Inventory (BAI), Somatic Amplification Scale (SAS), Toronto Alexithymia Scale (TAS), Eysenck Personality Questionnaire Revised-Abbreviated (EPQR-A), and Sociodemographic Data Form were used. Results:The mean age of the participants in the study was 64.80 ± 8.70 years, and 45 of the cases (90.0%) were women. Considering the Single Factor ANOVA Analysis, o...

Objective: To evaluate the utility of fiberoptic bronchoscopy in sputum smear negative PTB patients.

Material and Methods: A total of 66 adult patients with sputum smear negative for Acid Fast Bacilli (AFB) and chest X-ray suggestive of pulmonary tuberculosis underwent fiberopticbronchoscopy (FOB). A thorough examination of bronchial tree was carried out and bronchoalveolarlavage (BAL) was taken and was sent for Ziehl-Neelsen staining, MGIT960 TBculture, pyogenicand fungal culture. Bronchial brushing, endo-bronchial and transbronchial lung biopsy(TBLB) wherever indicated were performed and Ziehl-Neelsen staining was performed and post bronchoscopy sputum(PBS) was also sent for Ziehl-Neelsen stain.Results are summarized in tables and percentages. Quantitative data is summarized using means& standard deviation. Cross tabulation with outcome variable of interest was done using statistical software Epi-info version 7 (7.1.1.0). A p-value of less than 0.05 was considered statistically significant.

Results: Males constituted majority of our study population. The most common age group involved in the study was 18-28 years (36.3%). cough was the most common symptom reported by 62 patients (93.93%). The past history of PTB was present 6 patients (9.09%).Majority of study population, 39 patients (59.09%) had unilateral lesion on CXR. Out of 66 clinically suspected SSN-PTB patients, 52 patients (78.7%) were finally diagnosed as having active PTB. The diagnosis other than PTB was established in 6 (9.09%) cases, which included 3 cases of fungal (Candida) pneumonia and 3 cases of bacterial (pseudomonas species, citrobacter species, serratiamarsecens) pneumonia.

Conclusions: FOB and various bronchoscopy guided procedures can provide a rapid and definitive diagnosis of PTB in sputum negative patients.

Introduction: It is a benign fibro-proliferative process that involves the adipose tissue surrounding the mesentry.It is also known as Mesenteric lipodystrophy or scelrosing mesenteritis.1,2 It is sometimes called as a variant of Weber Christian Disease.1

Objectives: We aimed to identify biochemical markers and clinical findings with high sensitivity and specificity that can be used in the differential diagnosis of patients suspected of having Multisystem Inflammatory Syndrome in Children (MISC) in the pediatric emergency department (PED). Moreover, we also examined early warning signs for predicting severe MIS-C patients requiring admission to intensive care unit (ICU). Methods: We conducted a retrospective analysis of patients presenting to the PED with suspected MIS-C. Patient records were assessed for initial complaints, physical examination findings, laboratory and ımaging test results, diagnoses, and follow-up plans. Patients diagnosed with MIS-C were categorized as the MIS-C group, while others were categorized as the non-MIS-C group. Comparisons were made between these two groups. Results: A total of 266 patients were included, with 68 diagnosed with COVID-19-associated MIS-C, including 20 monitored in the pediatric ICU. MIS-...

Datura stramonium is a widespread annual, leafy herbaceous plant that is a powerful hallucinogen. It can cause severe anticholinergic poisoning after inappropriate and unconsciously usage. We would like to present an approach, accompanied by literature, to the poisoning case for a 6-year-old child who initially presented with altered mental status, abnormal/incoherent speech and agitation, and had an only response to physostigmine. It is essential to consider anticholinergic plant-based ingestions in the differential diagnosis of children presenting with altered mental state, hallucination, and agitation. Health care workers and parents should be aware of toxicities and potential risks of these plants. 

Objectives: Gastric carcinoma (GC) is the fourth most common cause of cancer-related tumor deaths worldwide. The prognostic significance of CD44, CD133 and human epidermal growth factor receptor 2 (HER2) expression in GC remains controversial. Therefore, we aimed to investigate the relationship of CD44, CD133 and HER2 expression with clinicopathological features in metastatic and non-metastatic GC patients. Methods: A total of 139 patients with GC (68 with metastasis, 71 without metastasis) diagnosed were retrospectively analyzed. CD44 and CD133 expression were determined by immunohistochemical method in all cases. In addition, HER2 overexpression of the tumor was evaluated in patients with metastatic GC. Results: The CD133 positivity rate was 90.6% (n = 126) when all cases were considered, and that for CD44 was 84.9% (n = 118). There was no difference in CD133 and CD44 positivity (intensity or density) rates and between the total scores of metastatic and non-metastatic patients wit...

Cervical fibroids are rare neoplasms of uterine origin whose management has not been standardized. Cervical fibroids, which can be challenging in surgical management, can become a difficult problem for the surgeon when neglected or asymptomatic and reach gigantic dimensions. Suspending the aorta abdominalis or arteria illiaca communis with vascular tapes and balloting the uterus with the help of vaginal taping while searching for the correct cleavage may reduce the risk of intraoperative hemorrhage and adjacent organ injury, as well as may be guide for the steps of the operation. Management of neglected giant cervical fibroids may not be suitable for testing alternative treatment methods to surgery used in the treatment of uterine neoplasms. However, surgical management will also be challenging. For this reason, the technique we describe can help the surgeon with clues that should be considered in the surgical management of these patients.

Objectives: There are publications showing sleep quality is impacted in type 2 diabetes mellitus (T2DM) cases. In our study, we planned to assess the prevalence of sleep disorder in these patients compared to society, and investigate whether poor glycemic regulation and increased body mass index (BMI) caused disruption of sleep quality or not. Methods: Sleep quality was compared between patients followed in our clinic with T2DM (n = 534) for minimum 5 years and a control group (n = 269). Assessment was performed for whether increased glycated haemoglobin (HbA1c) and increased BMI caused an increase in Pittsburgh Sleep Quality Index (PSQI) score or not. Cases with any comorbid disease or drug use affecting sleep quality were excluded from the study. Results: T2DM patients had higher PSQI points compared to the control group. A statistically significant, very low-level positive correlation was identified between BMI measurements and PSQI scores (as BMI increased, PSQI increased). A st...

Vestibular neuritis in pregnancy is not often and it may be difficult for obstetricians and ENT doctors to evaluate a pregnant woman and to choose best treatment because of drug contrandications. A 33-year-old woman presented with vertigo at 28 weeks of the gestation. After physical examination and audiological and vestibular tests, vestibular neuritis was diagnosed, and the treatment was initiated. The patient completely recovered without any complaints; neither vestibular nor gynecological. There are few studies in the literature pointing out the evaluation of pregnant women with vestibular neuritis. However, there are safe ways to manage such patients.

Carbon monoxide is an established dangerous toxicant with a complex mechanism of cellular toxicity. It is known to cause various neurological symptoms which can manifest both in acute as well as chronic forms. Delayed neurological deficits are often less recognizable. Radiological findings are also less specific. Hyperbaric oxygen therapy has been the mainstay of treatment over the years but is associated with its own list of complications and controversies. Current management for this important condition is discussed here.