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Abstract: Purpose: The present study was conducted to evaluate the obstetric admissions to the intensive care unit (ICU) in the setting of a tertiary referral hospital in an attempt to identify the risk factors influencing maternal outcome. Materials and Methods: All of the obstetric patients who seeked care for delivery at the emergency department and who were admitted to the ICU between January 2006 to July 2009 were retrospectively identified. The Simplified Acute Physiology Score (SAPS II) was calculated and the maternal mortality rate was estimated for each patient. The mean SAPS II scores and the mean estimated maternal mortality rates for the surviving patients and the nonsurviving patients were compared. Results: Seventy-three obstetric patients were admitted to the ICU. There were 9 maternal deaths and 24 fetal deaths. For the surviving group of patients, the mean SAPS II score was 34 and estimated maternal mortality rate was 20%, whereas for the nonsurviving group of patients, the SAPS II score was 64 and estimated maternal mortality rate was 73%. The difference between the surviving group of patients and the nonsurviving group of patients was statistically significant regarding both the mean SAPS II scores and the mean estimated maternal mortality rates. Conclusions: Pregnancy-induced hypertensive disorders and hemorrhage appear as the major risk factors influencing maternal outcome in obstetric patients. Considering that the use of the SAPS II scores have enabled the reliable estimation of the mortality rates in the present study, the attempts at defining the focus of care for the obstetric patients who bear the major risk factors and who are admitted to the ICU should be carried out under the guidance of the ICU scoring systems such as the SAPS II. [Copyright &y& Elsevier]

Objective: Cerebrotendinous xanthomatosis (CTX) is an inherited metabolic disorder characterized by progressive neurologic and extraneurologic findings. The aim of this retrospective, descriptive study was to explore the time of presentation and diagnosis, and to expand the phenotype and genotype of CTX, based on a nationwide and comprehensive series of patients in Turkey., Methods: The demographic, clinical, biochemical and genotypic characteristics of the CTX patients were reviewed. Data on molecular analysis, age of onset and diagnosis, diagnostic delay, neurologic and extraneurologic symptomatology, results of plasma cholestanol levels, brain magnetic resonance imaging and electromyography at the time of diagnosis were reviewed., Results: 100 confirmed CTX patients from 72 families were included. The mean age at diagnosis was 28.16 ± 14.28 years, and diagnostic delay was 18.39 ± 13.71 years. 36 patients were diagnosed in childhood. Frequency of intention tremor (p = 0.069), peripheral neuropathy (p = 0.234) and psychiatric manifestations (p = 0.396) did not differ between two groups, demonstrating the high rate in pediatric patients. Three adult patients showed a milder phenotype without neurologic involvement. Seven patients had normal plasma cholestanol levels despite neurological impairment. Sequencing of the CYP27A1 gene revealed 25 different variants, with a novel c.671_672del variant not previously described in literature., Conclusion: Based on the observations of this Turkish CTX cohort, it is emphasized that the true prevalence of CTX is probably underestimated and that it has a wide spectrum of clinical phenotypes even without neurological impairment. In children, abnormal cerebellar findings, peripheral neuropathy and psychiatric findings associated with intellectual disability have been suggested as warning signs to avoid diagnostic delay. In cases of clinical suspicion, molecular analysis is recommended despite normal plasma cholestanol levels, as severe neurologic involvement may occur in CTX patients without elevated cholestanol levels., Competing Interests: Declaration of Competing Interest Authors state no conflict of interest., (Copyright © 2024 Elsevier Inc. All rights reserved.)

Since the outbreak of the Syrian civil war in 2011, the population of Arab refugees in Turkey has rapidly increased. While cystic fibrosis (CF) is believed to be rare among Arabs, recent studies suggest it is underdiagnosed. This study aims to present the demographic, clinical, and genetic characteristics of CF patients among Arab refugees in Turkey. Additionally, a comparison is made between the findings in the National CF Registry 2021 in Turkey (NCFRT) and the refugee CF patient group. The study included refugee patients between the ages of 0 and 18 years who were diagnosed with CF and received ongoing care at pediatric pulmonology centers from March 2011 to March 2021. The study examined demographic information, age at diagnosis, age of diagnosis of patients through CF newborn screening (NBS), presenting symptoms, CF transmembrane conductance regulator (CFTR) mutation test results, sputum culture results, weight, height, and body mass index (BMI) z score. Their results were compared with the NCFRT results. The study included 14 pediatric pulmonology centers and 87 patients, consisting of 46 (52.9%) boys and 41 (47.1%) girls. All of the patients were Arab refugees, with 80 (92%) being Syrian. All the patients were diagnosed in Turkey. The median age at diagnosis of patients was 22.33 (interquartile range, 1-258) months. The median age of diagnosis of patients through NBS was 4.2 (interquartile range, 1-12) months. The median age of older patients, who were unable to be included in the NBS program, was 32.3 (interquartile range, 3-258) months. Parental consanguinity was observed in 52 (59.7%) patients. The mutation that was most frequently found was F508del, which accounted for 22.2% of the cases. It was present in 20 patients, constituting 32 out of the total 144 alleles. There was a large number of genetic variations. CFTR genotyping could not be conducted for 12 patients. These patients had high sweat tests, and their genetic mutations could not be determined due to a lack of data. Compared to NCFRT, refugee patients were diagnosed later, and long-term follow-up of refugee CF patients had significantly worse nutritional status and pseudomonas colonization.  Conclusion: Although refugee CF patients have equal access to NBS programs and CF medications as well as Turkish patients, the median age at diagnosis of patients, the median age of diagnosis of patients through NBS, their nutritional status, and Pseudomonas colonization were significantly worse than Turkish patients, which may be related to the difficulties of living in another country and poor living conditions. The high genetic heterogeneity and rare mutations detected in the refugee patient group compared to Turkish patients. Well-programmed NBS programs, thorough genetic studies, and the enhancement of living conditions for refugee patients in the countries they relocate to can have several advantages such as early detection and improved prognosis. What is Known: • Children who have chronic diseases are the group that is most affected by wars. • The outcome gets better with early diagnosis and treatment in patients with Cystic Fibrosis (CF). What is New: • Through the implementation of a newborn screening program, which has never been done in Syria previously, refugee patients, the majority of whom are Syrians were diagnosed with cystic fibrosis within a duration of 4 months. • Despite equal access to the newborn screening program and CF medications for both Turkish patients and refugee patients, the challenges of living in a foreign country have an impact on refugees., (© 2024. The Author(s).)

Congenital sucrase-isomaltase deficiency (CSID) is a rare autosomal carbohydrate malabsorption disorder caused by mutations in the sucrase-isomaltase gene. While the prevalence of CSID is high in the indigenous populations of Alaska and Greenland, it is imprecise and ambiguous in the Turkish pediatric population. In this cross-sectional case-control study, which is retrospective in nature, next-generation sequencing (NGS) results obtained from records of 94 pediatric patients with chronic nonspecific diarrhea were reviewed. Demographic characteristics, clinical symptoms and treatment responses of those diagnosed with CSID were evaluated. We identified one new, homozygous frame-shift mutation and 10 other heterozygous mutations. Two cases were from the same family and nine were from different families. While the median age at onset of symptoms was 6 months (0-12), median age at diagnosis was 60 months (18-192) with a median delay of 5 years and 5 months (10 months -15 years and 5 months) in diagnosis. Clinical symptoms included diarrhea (100%), abdominal pain (54.5%), vomiting after consuming sucrose (27.2%), diaper dermatitis (36.3%) and growth retardation (81%). Our clinical study revealed that sucrase-isomaltase deficiency may have been underdiagnosed in patients with chronic diarrhea in Turkey. In addition, the frequency of heterozygous mutation carriers was significantly higher than that of homozygous mutation carriers and those with a heterozygous mutations responded well to the treatment.

Background: Paediatric palliative care (PPC) focuses on improving the quality of life of children dealing with life-threatening conditions, as well as their families., Aims: To evaluate the knowledge and attitudes of paediatricians regarding palliative care in Turkey and the impact of PPC units on their confidence and symptom management abilities., Methods: This was a multicentre descriptive study conducted in 2019. A questionnaire consisting of 24 questions and 4 parts on palliative care was prepared. Paediatricians in hospitals with or without PPC units completed the questionnaire. Analyses were performed using NCSS 10 (2015) software., Results: There were 199 participants in the study, out of which 55 (27.6%) received palliative care training. One hundred and sixty-seven (83.9%) paediatricians defined palliative care as improving the quality of life of patients in the terminal period, and 77 (38.7%) stated that palliative care can be started after diagnosis. The groups of patients who would benefit from palliative care were most frequently identified as those with diseases that could not be cured (e.g. cystic fibrosis). Paediatricians with a PPC unit in their work environment, compared with those without a PPC unit, were significantly more competent in pain management (36.8% vs 6.4%, P < 0.001), symptom management (42.1% vs 19.2%, P < 0.001), and coping with the psychosocial problems of end-stage paediatric patients (36.8% vs 8.4%, P < 0.001)., Conclusion: PPC units in hospitals contributed to paediatricians' ability to manage symptoms and communicate with families. The number of PPC units should be increased, especially in developing countries such as Turkey., (Copyright © World Health Organization (WHO) 2022. Open Access. Some rights reserved. This work is available under the CC BY-NC-SA 3.0 IGO license (https://creativecommons.org/licenses/by-nc-sa/3.0/igo).)

Glycogen storage diseases (GSDs) are clinically and genetically heterogeneous disorders that disturb glycogen synthesis or utilization. Although it is one of the oldest inherited metabolic disorders, new genetic methods and long-time patient follow-ups provide us with unique insight into the genotype-phenotype correlations. The aim of this study was to share the phenotypic features and molecular diagnostic results that include new pathogenic variants in our GSD cases. Twenty-six GSD patients were evaluated retrospectively. Demographic data, initial laboratory and imaging features, and current findings of the patients were recorded. Molecular analysis results were classified as novel or previously defined variants. Novel variants were analyzed with pathogenicity prediction tools according to American College of Medical Genetics and Genomics (ACGM) criteria. Twelve novel and rare variants in six different genes were associated with the disease. Hearing impairment in two patients with GSD I, early peripheral neuropathy after liver transplantation in one patient with GSD IV, epilepsy and neuromotor retardation in three patients with GSD IXA were determined. We characterized a heterogeneous group of all diagnosed GSDs over a 5-year period in our institution, and identified novel variants and new clinical findings. It is still difficult to establish a genotype-phenotype correlation in GSDs.

Objective: This paper reports the first-ever description of a clinical eating disorder population from Turkey. The aim of this study was to examine the socio-demographic and clinical characteristics of individuals with diagnosis of eating disorders (IDED) referred to a university psychiatry clinic in Istanbul between 2003 and 2009., Method: The diagnoses and subtype of 111 IDEDs, the referral type to the hospital, setting of treatment, and state of involuntary hospitalization were evaluated by interview and semi-structured questionnaire., Results: The clinical sample included 64 individuals with anorexia nervosa (AN), 38 with bulimia nervosa (BN), and 9 with eating disorder not otherwise specified (EDNOS), including only one male. Younger individuals and those with a lower BMI were significantly more likely to be family referred and hospitalized involuntarily., Discussion: The overall socio-demographic features of the sample are generally consistent with data collected in other communities. However, aspects of the clinical features, referral types of eating disorders and subtypes exhibit some characteristics peculiar to our sample.

The superficial palmar communicating branch between the ulnar and median nerves, the ramus communicans (RC), has been investigated by anatomical dissections in 30 hands of 15 cadavers in the Turkish population. A communicating branch between the ulnar and median nerves was found in 18 hands (60%). It was classified into 4 types: Type 1-RC emerging from the ulnar 4th common digital nerve (CDN) and uniting with the median 3rd CDN, Type 2-RC emerging from the median 3rd CDN and uniting with the ulnar 4th CDN, Type 3-RC extending horizontally between the 3rd and 4th CDN, Type 4-a plexiform RC formed by multiple twigs. Twelve hands (40%) showed the Type 1 arrangement, one was Type 2 (3.3%), two were Type 3 (6.7%) and three (10%) were Type 4, based on the classification devised by Meals and Shaner ([1983] J Hand Surg Am 8:411-414) and modified by Bas and Kleinert ([1999] J Hand Surg Am 24:1171-1184). Knowledge of the anatomical characteristics of this branch is important for surgical interventions, especially in carpal tunnel release operations.

Background: The pterion, the most commonly used neurosurgical landmark, is defined as the junction of frontal, parietal, and greater wing of the sphenoid and the squamous part of temporal bones. Our aim was to identify the variations of the pterion which may be a potential surgical pitfall., Methods: Both sides of 300 adult skulls were examined but 110 sides were eliminated since their pterion could not be identified owing to a damage. The shortest distance between the lateral orbital rim and the most anterior junction of the four bones forming the pterion was measured on all sides., Results: Out of 490 sides the pterion was found to contain epipteric bones in 44 (9 %), and in these skulls the most anterior junction of the bones may be as close as 16 mm to the lateral orbital rim., Conclusion: In skulls with an epipteric bone variation, particularly the anterius and proprium types; the pterion can mistakenly be assessed to be at the most anterior junction of bones and a burr hole placed over there may cause inadvertent penetration into the orbit.

Persons infected with Mycobacterium tuberculosis are at greatest risk for developing active tuberculosis especially in children, adolescents, young adults and persons who have selected risk factors. Persons who were contact with tuberculosis patients and who have positive tuberculin skin test reactions and had high risk for developing active tuberculosis should be use preventive chemotherapy. In this study, we aimed to evaluate retrospectively 1663 close contacts of 486 active tuberculosis patients who registered in Eskisehir Deliklitas Tuberculosis Control Dispensary. The mean age was 25.4 +/- 18.1 years, 961 (57.7%) cases were female and 702 (42.3%) cases were male. Diagnosis was performed 1114 (67%) of close contacts people's patients with microbiological study. The scatrix of BCG has been recorded 901 (54.2%) cases, tuberculin skin test results has been recorded 952 (57.2%) cases. Tuberculin skin test of 612 (64.5%) cases were above 15 mm. 37.8% of cases were used preventive chemotherapy and 2.6% of cases had active tuberculosis disease. The age group was 7-14 years and persons who had close contacts of bacile positive patients, 80.5% of them had used preventive chemotherapy. Persons who's tuberculin skin test positive and younger than 6 years, 98.5% of them had preventive chemotherapy. Only 372 (59.2%) of patients completed preventive chemotherapy. At the results; we established that the preventive chemotherapy programme which recommended to our country is using regularly, but most of the close contact patients didn't completed their therapy.

Tuberculosis is an important public health problem in our country. Tuberculosis Control Dispensary has been important role in tuberculosis control programme. In this study we retrospectively evaluate 891 pulmonary tuberculosis patients who registered in Eskişehir Deliklitaş Tuberculosis Control Dispensary between January 1990 and June 2000. The mean age was 38.9 +/- 15.7 years, 159 (18.3%) patients were female, 710 (81.7%) patients were male. The most common symptom was cough (88.7%). 81 percent of patients have been found by examination of symptomatic people while 6.4 percent of them by examination of close contacts. 26.5 percent of patients had close contacts with tuberculosis patients. The scares of BCG vaccine has been recorded 63.6% of the patients and 80.3% percent of them had at least one scare, tuberculin skin test result has been recorded in 49.6% percent of patients. Cavitary pulmonary tuberculosis was a diagnosed of 27.7%. The sputum examination and culture for acid resistant basil has been performed 89.1% of the patients, 389 (50.2%) of patients had acid fast bacillus in sputum and 548 (70.8%) of patients had culture positivity. 80.3 percent of the patients has completed regularly their treatments (mean duration 10.4 +/- 2.6 months). The mortality rate was 5.8%.