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Spinal muscular atrophy (SMA) is the most common neurodegenerative disease of childhood. The natural course of the disease has been altered with the use of new treatment methods. The aim of this study is to evaluate the clinical outcomes of children who received early treatment through newborn screening. Clinical data of 44 patients diagnosed with SMA by detecting deletion in exon 7 of SMN1 using polymerase chain reaction (PCR) in newborn screening tests conducted with heel blood samples between May 2022 and April 2024 and followed and treated at 5 centers are presented. According to the Ministry of Health data, since the beginning of newborn screening for SMA, 1,762,219 babies have been screened, and 286 babies have been diagnosed. Therefore, the frequency of SMA can be estimated as 1 in 6000. Of the 44 cases, 27 were female (61.3%); 2.2% had 1 copy, 68.2% had 2 copies, 20.5% had 3 copies, 6.8% had 4 copies, and 2.2% had 6 copies of the SMN2 gene. The age at diagnosis ranged from 5 to 45 days, and the age at the start of treatment for 34 treated patients ranged from 20 to 138 days. Three patients with four or six copies of the SMN2 gene were followed without treatment. The treatment option was nusinersen, the only approved treatment in Turkey. Five patients obtained onasemnogene abeparvovec at their own expense. 68.2% of the cases were asymptomatic at the time of referral examination. Asymptomatic patients who received early treatment achieved timely acquisition of World Health Organization motor development milestones and did not experience respiratory or feeding problems at the time of referral examination. Early diagnosis and treatment of SMA significantly affect patients' neurodevelopmental outcomes. SMA should be included in newborn screenings, and diagnosis should be made as soon as possible with the aim of shortening the time between diagnosis and treatment. [ABSTRACT FROM AUTHOR]

Aims: The study aims to assess the impact of bowel preparation on MRI scans in diagnosing rectosigmoid endometriosis (RSE) and to examine the level of agreement among investigators, including radiologists and clinicians with varying levels of MRI experience., Material and Methods: Fifty-eight patients underwent MRI scans, with 34 showing RSE and 24 without involvement, according to TVUS as the reference standard. The scans were conducted both with and without a bowel preparatory protocol (BPP)., Results: The highest concordance was observed in the group 4, which included patients with RSE and BPP, with a Kappa value of 0.47-0.52. In contrast, for groups with MRI scans without the BPP, there was no consistency among the investigators (Kappa <0.20). The sensitivity, specificity, positive predictive value, and negative predictive value were 0.72, 0.47, 0.72, and 0.47 without BPP, and increased to 0.82, 0.74, 0.85, and 0.74, respectively, after BPP., Conclusions: The results reveal that the concordance between investigators in detecting RSE via MRI scan improves with the use of BPP. Additionally, the success rate of MRI and TVUS for detecting RSE can be comparable, but only if bowel preparatory techniques are utilized during MRI scans.

Backgrounds: Genetic variants in CF transmembrane conductance regulator (CFTR) gene causes cystic fibrosis (CF), a prevalent autosomal recessive disorder. More than 2000 variants in CFTR have been described as disease causative. This study aims to delineate the genotypic and phenotypic landscape of CF among people with CF (pwCF) followed at the largest CF center in Turkey., Methods: We conducted a descriptive and retrospective analysis of 481 patients registered with the European CF Society Patient Registry and followed at Marmara University Selim Çöremen CF Center from 2015 onwards. Comprehensive CFTR analysis was utilized for genetic diagnosis. Besides the whole cohort, novel variants and complex alleles were also described., Results: Our cohort exhibited a broad spectrum of CFTR variants, with 136 different variants detected, indicating substantial genetic diversity. The F508del variant was less prevalent in our cohort compared to US and European averages, which could reflect unique genetic and demographic characteristics of the Turkish population. Additionally, we identified nine novel variants in 12 alleles, which enhances the understanding of CF's genetic complexity in this region, and complex alleles in 32 pwCF., Conclusion: Our research underscores the heterogeneity of CFTR variants in Turkey and highlights the necessity for extensive genetic profiling particularly for diverse populations to provide effective personalized treatment strategies. It is crucial to understand the full spectrum of CFTR variants with the advent of CFTR modulators., (© 2024 The Author(s). Pediatric Pulmonology published by Wiley Periodicals LLC.)

Objective: Central sleep apnea (CSA) is a rare condition in children; however, it can cause significant morbidity if not diagnosed early. We aimed to increase the knowledge about CSA in children by describing the clinical characteristics of children diagnosed with CSA at our sleep center., Material and Methods: We retrospectively reviewed 1263 polysomnographies (PSG) performed between 2012 and 2023 at our tertiary sleep center and evaluated the clinical characteristics of the patients with CSA. Underlying diseases, clinical symptoms, sleep parameters, and short-term management of the patients were recorded., Results: Of the 1263 patients aged between 1 month and 18 years, 122 (9.65%) had CSA, with 54.9 % (n = 67) of them being female. Only 56.6% (n = 69) of the patients' parents had reported a symptom indicating sleep-disordered breathing. The most common underlying disease was genetic, including Down and Prader-Willi syndromes, followed by neurological diseases . Obstructive sleep apnea was detected in addition to CSA in 103 of the patients (84.4%). Bi-level positive airway pressure with a backup rate was the most common treatment modality., Conclusion: While CSA is a rare clinical condition in children, it occurs more commonly in those with an underlying disease. Awareness of the disease and timely referral of the patients for sleep studies are critical to prevent long-term sequelae.

Background: Cystic fibrosis (CF) is an autosomal recessive disease caused by variants of CFTR gene. Over 2000 variants have been identified, and new drugs called CFTR modulators have been developed to target specific defects in the CFTR protein. However, these drugs are only suitable for patients with certain variants of CFTR, and eligibility rates vary depending on race and geographical region. This study aimed to reveal the detailed genotype and clinical characteristics of people with CF (pwCF) at our center in Turkey, a developing country, who are not eligible for CFTR modulators., Methods: A total of 445 pwCF followed up at Marmara University were reviewed retrospectively. Variants of the patients ineligible to CFTR modulators were classified based on American College of Medical Genetics guidelines, CFTR classification, the change in the encoded protein, and the variant type., Results: The study revealed that 139 (31.2%) patients weren't eligible for CFTR modulators. There were 60 different variants in the 276 alleles, as two were missing. The majority of patients had missense or nonsense variants, and that the most common variant was c.1545&#95;1546del, which can be said unique to this geography., Conclusion: The study highlights the importance of detecting the variants of ineligible patients in detail to guide future approaches for more targeted and effective interventions in CF care. Testing the effectiveness of CFTR modulators for rare or newly occurring variants is crucial to ensure equal access for pwCF to these therapies from different racial backgrounds and ethnic minorities., (© 2024 The Author(s). Pediatric Pulmonology published by Wiley Periodicals LLC.)

Objective: The objective of this study was to assess the effectiveness of myoinositol (4 g myoinositol + 400 mcg folic acid/day) compared with metformin (average 1700 mg/day), as well as the combined efficacy of both treatments in managing insulin-resistant polycystic ovary syndrome (PCOS) among women., Materials and Methods: We retrospectively analyzed the records of 68 reproductive-age PCOS patients with insulin resistance over a 3-month period. Oral glucose tolerance tests (OGTT) (75 gr) were conducted to measure glucose levels at 0 and 120 min. Moreover, changes in prolactin, thyroid stimulating hormone, high-density lipoprotein, low-density lipoprotein, triglyceride levels, total cholesterol, follicle-stimulating hormone, luteinizing hormone, total testosterone, free testosterone, and dehydroepiandrosterone sulfate (DHEA-S) levels were evaluated pre- and post-treatment over a 3-month period., Results: Statistically significant improvements were observed in menstrual regularity, body mass index (BMI), modified Ferriman Gallwey scores, OGTT glucose levels at 0 and 120 min, total testosterone, free testosterone, and DHEA-S levels across all groups (p<0.005)., Conclusion: No significant variances were observed in terms of BMI, modified Ferriman Gallwey scores, or androgen levels across the three treatment cohorts. The combination of myoinositol and metformin did not confer additional benefits compared with either treatment alone., Competing Interests: Conflict of Interest: No conflict of interest was declared by the authors., (Copyright© 2024 The Author. Published by Galenos Publishing House on behalf of Turkish Society of Obstetrics and Gynecology.)

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).)

Background: Hypertrophic cardiomyopathy (HCM) is a genetically inherited cardiac disorder with diverse clinical presentations. Adrenergic activity, primarily mediated through beta-adrenoceptors, plays a central role in the clinical course of HCM. Adrenergic stimulation increases cardiac contractility and heart rate through beta-1 adrenoceptor activation. Beta-blocker drugs are recommended as the primary treatment for symptomatic HCM patients to mitigate these effects., Methods: This prospective study aimed to investigate the impact of common ADRB-1 gene polymorphisms, specifically serine-glycine at position 49 and arginine-glycine at position 389, on the clinical and structural aspects of HCM. Additionally, the study explored the association between these genetic variations and the response to beta-blocker therapy in HCM patients., Results: A cohort of 147 HCM patients was enrolled, and comprehensive assessments were performed. The findings revealed that the Ser49Gly polymorphism significantly influenced ventricular ectopic beats, with beta-blocker therapy effectively reducing them in Ser49 homozygous patients. Moreover, natriuretic peptide levels decreased, particularly in Ser49 homozygotes, indicating improved cardiac function. Left ventricular outflow obstruction, a hallmark of HCM, was also reduced following beta-blocker treatment in all patient groups. In contrast, the Arg389Gly polymorphism did not significantly impact baseline parameters or beta-blocker response., Conclusion: These results emphasize the role of the Ser49Gly polymorphism in the ADRB-1 gene in shaping the clinical course and response to beta-blocker therapy in HCM patients. This insight may enable a more personalized approach to managing HCM by considering genetic factors in treatment decisions. Further research with larger populations and longer follow-up periods is needed to confirm and expand upon these findings.

The childhood interstitial lung diseases (chILD) Turkey registry (chILD-TR) was established in November 2021 to increase awareness of disease, and in collaboration with the centers to improve the diagnostic and treatment standards. Here, the first results of the chILD registry system were presented. In this prospective cohort study, data were collected using a data-entry software system. The demographic characteristics, clinical, laboratory, radiologic findings, diagnoses, and treatment characteristics of the patients were evaluated. Clinical characteristics were compared between two main chILD groups ((A) diffuse parenchymal lung diseases (DPLD) disorders manifesting primarily in infancy [group1] and (B) DPLD disorders occurring at all ages [group 2]). There were 416 patients registered from 19 centers. Forty-six patients were excluded due to missing information. The median age of diagnosis of the patients was 6.05 (1.3-11.6) years. Across the study population (n = 370), 81 (21.8%) were in group 1, and 289 (78.1%) were in group 2. The median weight z-score was significantly lower in group 1 (- 2.0 [- 3.36 to - 0.81]) than in group 2 (- 0.80 [- 1.7 to 0.20]) (p < 0.001). When we compared the groups according to chest CT findings, ground-glass opacities were significantly more common in group 1, and nodular opacities, bronchiectasis, mosaic perfusion, and mediastinal lymphadenopathy were significantly more common in group 2. Out of the overall study population, 67.8% were undergoing some form of treatment. The use of oral steroids was significantly higher in group 2 than in group 1 (40.6% vs. 23.3%, respectively; p = 0.040).   Conclusion: This study showed that national registry allowed to obtain information about the frequency, types, and treatment methods of chILD in Turkey and helped to see the difficulties in the diagnosis and management of these patients. What is Known: • Childhood interstitial lung diseases comprise many diverse entities which are challenging to diagnose and manage. What is New: • This study showed that national registry allowed to obtain information about the frequency, types and treatment methods of chILD in Turkey and helped to see the difficulties in the diagnosis and management of these patients. Also, our findings reveal that nutrition should be considered in all patients with chILD, especially in A-DPLD disorders manifesting primarily in infancy., (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Objective: To compare the surgical and clinical results of traditional absorbable polyglactin 910 and barbed sutures in laparoscopic myomectomy., Materials and Methods: This single-center randomized study included 75 women who underwent laparoscopic myomectomy. The uterine wall defects were closed with a continuous conventional absorbable polyglactin 910 suture (Vicryl; Ethicon, Somerville, NJ, USA) in 41 women and with a unidirectional barbed suture (V-Loc 180; Covidien, Mansfield, MA, USA) in 34 women., Results: The time required to suture the uterine wall defect was lower in the V-Loc group than in the Vicryl group (p=0.007). However, no significant difference was observed in the operative time between the two study groups. The intraoperative blood loss and need for postoperative blood transfusion were significantly lower in the barbed group than in the Vicryl group (p=0.018 and p=0.048, respectively)., Conclusion: In laparoscopic myomectomy cases, the unidirectional barbed suture is more effective than the conventional absorbable suture. Barbed sutures facilitate the suturing process and reduce the time required to suture the uterine wall defect, blood loss, and the need for postoperative blood transfusion., Competing Interests: Conflict of Interest: No conflict of interest was declared by the authors., (©Copyright 2023 by Turkish Society of Obstetrics and Gynecology | Turkish Journal of Obstetrics and Gynecology published by Galenos Publishing House.)

Introduction: Airway clearance techniques, which include positive expiratory pressure (PEP) devices, are essential in the pulmonary rehabilitation of cystic fibrosis (CF). Bottle-PEP is a low-cost but an effective alternative., Objective: The aim of this study is to document the sustainability and safety of Bottle-PEP therapy as a home rehabilitation aid., Methods: The study has been designed as a prospective case series. Patients with CF at the age of 6-18 years in acute exacerbation period were included in the study. Bottle-PEP training was given by a competent physiotherapist to those patients who did not use any method, and those who currently use another device were followed up with their existing devices. Thus, patients divided into two groups were followed up for 1 year. The patients were evaluated by phone every 2 weeks for exacerbation, regular and proper use of the device, and satisfaction during their follow-up. The patients were evaluated every 3 months with pulmonary function tests, 6-minute walking test (6MWT) and quality of life., Results: Thirty-four patients were included in the study. The acute exacerbation score of the patients was 4.5 in the Bottle-PEP group and 6 in the other group, showing no significant difference ( p = .1). Treatment compliance scores were compared, the median value of the Bottle-PEP group was 24 the other group was 27 and there was no significant difference ( p = .6). During follow-up of, there were no significant differences in FEV1, 6MWT and quality of life data ( p > .05)., Conclusion: Bottle-PEP treatment is not different from other devices in terms of long-term usability and safety in patients diagnosed with cystic fibrosis.

Fractional flow reserve assessment was accepted as a crucial strategy in stable patients undergoing coronary angiography without prior noninvasive evaluation in the presence of borderline lesions and in patients with multivessel coronary artery disease. Instantaneous wave-free ratio, measured during a specific diastolic interval, emerged as a nonhyperemic pressure ratio. Due to its advantages such as not requiring a vasodilating agent, rapidity of procedure, pullback phenomena for the assessment of individual stenosis in tandem lesions or diffusely infiltrated vessels, and virtual percutaneous coronary intervention which allows the assessment and justification 'of' optimal coronary revascularization, instantaneous wave-free ratio became a valuable option in the field of coronary physiology. This review aims to address coronary physiological concept with fractional flow reserve and emergence of instantaneous wave-free ratio through cornerstone studies as well as the use of instantaneous wave-free ratio in different clinical scenarios.

Background    Studies have shown that increased body weight and obesity may be associated with an increased risk of arrhythmic events. The aim of this study was to evaluate the effect of obesity on the risk of arrhythmic events, hospitalization, and death in patients who received implantable cardioverter defibrillator (ICD) therapy for primary or secondary prevention.Material and Methods    A single-center, prospective, observational study was conducted. Patients with body mass index (BMI) &lt;30 kg / m2 were classified as non-obese, and patients with BMI ≥30 kg / m2 were classified as obese. The primary endpoints were arrhythmic events and device interventions. The secondary endpoints were all-cause mortality, cardiac mortality, cardiac rehospitalization, and a composite endpoint of mortality and hospitalization.Results    Among a total of 340 patients, 78.2 % were male, and 22.1 % were obese. The mean age was 60.9 yrs. Ventricular tachycardia (VT) was more frequent in non-obese patients (HR 0.57, [CI] 0.38-0.87, p=0.009). All-cause mortality and cardiac mortality in all patients tended to be more frequent in non-obese (HR 2.71, [CI] 0.93-7.93, p= 0.069 for all-cause mortality; HR 3.29, [CI] 0.97-11.17, p=0.056 for cardiac mortality). In the subgroup analysis, VT, all-cause mortality, and cardiac mortality were more common for non-obese patients in primary prevention and ischemic heart failure (HF) groups.Conclusion    While VT was more frequent in non-obese patients, VF, ICD appropriate shock, inappropriate shock, and antitachycardia pacing were similar in obese and non-obese patients. All-cause mortality and cardiac mortality were more frequent in non-obese patients.

Hydatid cyst is a parasitic infection caused by Echinocococcus granulosus. The coexistence of tuberculosis and cardiac hydatid cyst is extremely rare and generally seen in developing coun- tries. Here, we describe a unique case of a patient presenting with cardiac and gastrointestinal symptoms, who has coexistence of cardiac hydatid cyst and peritoneal tuberculosis.

Introduction: Little is known about the COVID-19 disease characteristics and differences between different pediatric age groups. This study aimed to investigate the disease characteristics according to age groups., Methodology: We conducted a retrospective, single-center study of pediatric COVID-19 in a tertiary care hospital in Turkey. The patients were divided into three groups: 15 days-24 months old (Group 1), 25-144 months old (Group 2), and 145-210 months old (Group 3) according to age., Results: A total of 139 pediatric patients with COVID-19 were examined. Twenty-nine patients (20.9%) were in Group 1, 52 (37.4%) were in Group 2, 58 (41.7%) were in Group 3. Thirty-nine patients (28.1%) were hospitalized. The most common symptoms were cough (55.4%) and fever (51.8%). The median chest X-ray (CXR) score of hospitalized patients was 1 (min 0-max 7), and the median CXR score of outpatients was 1 (min 0-max 6). Fever was significantly more frequent in Group 1, and chest pain was more frequent in Group 3. Group 1 had significantly higher WBC, lymphocyte, thrombocyte counts, AST, LDH, D-dimer, and Troponin T levels but lower hemoglobin, total protein, and albumin levels. The treatment included antibiotics, oseltamivir, hydroxychloroquine, and supportive therapy. Only one patient (0.7%) received non-invasive mechanical ventilatory support., Conclusions: As we know the clinical course of COVID-19 in children is less severe than in adults. We also found significant differences in both clinical and laboratory findings between different pediatric age groups which supports the theory that disease pathogenesis is highly variable according to age., Competing Interests: No Conflict of Interest is declared, (Copyright (c) 2022 Eda Kepenekli, Nurhayat Yakut, Zeynep Ergenc, Omer Aydiner, Rabia Can Sarınoglu, Aysegul Karahasan, Elif Karakoc-Aydiner, Asli Memisoglu, Yasemin Gokdemir, Ela Erdem Eralp, Pinar Ergenekon, Bulent Karadag, Kubra Gokce Tezel, Murat Aydin, Betul Senyurek, Perran Boran.)

Objective: Ductus venosus blood flow velocity measurements are mandatory in many clinical indications. The evaluation of the flow is performed either by comparing results with general reference tables or by qualitative assessment of the “a” flow, in regard to reversed or absent flow in the spectral waveforms. The aim was to develop normal reference ranges in low-risk pregnancies in our population., Material and Methods: Measurements of flow velocities (S, v, D, a) and indices (pulsatility index for veins, peak velocity index for veins, a/S, S/a) were performed by a single experienced specialist in 1279 singleton, uncomplicated pregnancies between 11 and 40 weeks gestation. The absolute flow velocities (S, v, D, a, VmPeak) and indices were obtained from spectral waveforms using the equipment producer’s inbuilt system. The still images were stored in the picture archiving and communication system., Results: The predicted reference ranges of the ductus venosus blood flow velocities according to the gestational age are shown in tables and graphics. Predicted reference curves based on the 5 th and 95 th percentiles according to gestational week were plotted and are given in tables and figures., Conclusion: Normal reference ranges for absolute flow velocities and indices were calculated from a population of uncomplicated pregnancies attending a tertiary care center. The measurements were made from both the classic patterns of the waveforms and also considered variants of the spectral waveforms, which have recently been reported, for the first time in the medical literature.