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    Clinical and molecular spectrum along with genotype-phenotype correlation of 25 patients diagnosed with 3 M syndrome: a study from Turkey
    (Springer, 2024) Akalin, Akcahan; Ozalkak, Servan; Yildirim, Ruken; Karakaya, Amine Aktar; Kolbasi, Baris; Durmusalioglu, Enise Avci; Kokali, Funda
    3 M syndrome is a well-known autosomal recessive skeletal genetic disorder caused by biallelic pathogenic variants in the CUL7, OBSL1, and CCDC8 genes. Affected individuals exhibit profound pre- and postnatal growth retardation, distinctive facial features with normal intelligence. This study aims to provide insight into the comprehensive evaluation of clinical, laboratory, and radiological findings, expand the mutational spectrum of the disease, and establish a genotype-phenotype correlation in the present cases. A total of 25 patients from 19 unrelated families were included in the study. Genetic etiology was determined in probands through the utilization of Sanger sequencing and/or targeted gene panel analysis. The clinical, laboratory, and genetic features of all patients at admission and during follow-up were documented. Genotype-phenotype correlation was carried out in the CUL7 and OBSL1 groups. The genetic etiology was established in all patients (n = 25/25, 100%). We identified 15 distinct variants in CUL7, OBSL1, and CCDC8 genes, with eleven being novel. CUL7 variants were present in 13 patients (n = 13/25, 52%), while OBSL1 variants were found in 11 patients (n = 11/25, 44%). No notable distinctions were found in mean birth weight, height, and standard deviation scores between the CUL7 and OBSL1 mutation groups (p > 0.05). Patients with CUL7 variants exhibited significantly lower height standard deviation scores both at admission and at the last examination, as well as lower weight standard deviation scores at the last examination, compared to those with OBSL1 variants (p < 0.05). Conclusion: To date, genotype-phenotype correlations have been identified in a limited number of studies. Further research involving larger cohorts is necessary to solidify these correlations.
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    Evaluation of iodine and selenium level and thyroid functions in patients with cystic fibrosis
    (Walter De Gruyter Gmbh, 2025) Unal, Edip; Arica, Enes; Tas, Funda Feryal; Kolbasi, Baris; Beyazit, Nurcan; Kaplan, Ibrahim; Savas, Suat
    Objectives There is limited research on thyroid function in pediatric patients with cystic fibrosis (pwCF). This study aimed to determine the frequency of thyroid dysfunction in children and adolescents with CF and to evaluate iodine deficiency and selenium status in pwCF.Methods Sixty-two CF patients and 62 control subjects were evaluated. The anthropometric measurements, nutritional status, FEV1(Forced-expiratory-volume in 1 s) percentage, thyroid function tests (TSH, FT4, FT3), urinary iodine and selenium levels, hospitalization status in the last six months, antibiotic usage, and colonization status with staphylococcus or pseudomonas were assessed for the cases.Results The mean age of the patient group was 10.84 +/- 4.04 years. All CF patients were receiving multivitamin supplementation. Malnutrition was present in 50 % of patients, bacterial colonization in 29 %, FEV1 decrease in 38.5 %, subclinical hypothyroidism (SH) in 12.9 %, iodine deficiency in 87 % and exocrine pancreatic insufficiency in 100 %. T3 levels were found to be higher in pwCF. No significant difference was found between malnutrition and FEV1 and urinary iodine and selenium levels. Compared to the control group, pwCF had lower urinary iodine levels.Conclusions To the best of our knowledge, our study is one of the few in the literature to investigate urinary selenium levels alongside iodine in PwCF. Further research is needed to clarify and interpret elevated urinary selenium levels in this context. It was shown that iodine deficiency and the rate of SH were relatively high in pwCF. However, it was still thought that correcting iodine deficiency in these patients could improve thyroid dysfunction associated with CF.
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    Evaluation of Tracheostomy Patients in Our Pediatric Intensive Care Unit: A Single-Center Study
    (Springernature, 2024) Kolbasi, Baris; Senkal, Emine; Taskesen, Mustafa
    Objectives: A tracheostomy is a surgical procedure that can be performed on critically ill patients of all ages in intensive care units as indicated, and its use has been increasing in recent years. The most common indications are prolonged mechanical ventilation and upper airway obstruction. This study aimed to examine the indications for tracheostomy, assess the outcomes of patients who underwent the procedure, and identify the factors affecting these outcomes. Material and method: A retrospective analysis of patients who underwent tracheostomy between 2013 and 2019 at Dicle University Faculty of Medicine Hospital Paediatric Intensive Care Unit (PICU). The patients' age, gender, distribution by age, primary diagnosis at admission to the intensive care unit, indication for tracheostomy, presence of additional disease, type of respiratory support before and after tracheostomy, development of complications (perioperative/postoperative), decannulation status, mortality, and discharge status were recorded. Results: A total of 61 patients were enrolled into the study. The average age of the patients was 81.72 months (SD = 17.5), with the youngest being eight months old and the oldest being 203 months old. Of the 61 patients included in the study, 32 (52%) were male and 29 (48%) were female. The majority of patients (32 patients) were in the preschool age group (25-84 months). The primary diagnosis of 27 patients (44.3%) who underwent tracheostomy was neuromuscular diseases, and the most common indication for tracheostomy was prolonged intubation (24 patients, 39.3%). Concomitant chronic diseases were present in 54 patients (88.5%). Patients received mechanical ventilation support for an average of 47.34 days before tracheostomy. Early tracheostomy (0-21 days after initiation of mechanical ventilation) was performed on 14 patients, and late tracheostomy (21 days and later) was performed on 47 patients. Complications developed in nine patients (14.8%) in the perioperative period and in 19 patients (31.1%) in the postoperative period, while no complications developed in 39 patients (63.9%). Six patients (9.8%) were decannulated. Furthermore, 28 patients (45.9%) died. No tracheostomy-related mortality was documented. Conclusion: Despite most patients being of preschool age, having prolonged intubation prior to tracheostomy, and having accompanying chronic illnesses, tracheostomy remains a frequently used procedure in paediatric intensive care units due to its low complication rates, making it an essential intervention that facilitates discharge from paediatric intensive care.
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    Phenotypes linked to duplication upstream of SOX9: New insights into presentation and diagnosis
    (Karger, 2024) Unal, Edip; Unal, Aysel Tekmenuray; Cayir, Atilla; Cakir, Esra Deniz Papatya; Beyazit, Nurcan; Kolbasi, Baris; Tosun, Busra Gurpinar
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    Phenotypes Linked to Duplication Upstream of SOX9: New Insights Into Presentation and Diagnosis [2]
    (Endocrine Soc, 2025) Unal, Edip; Tekmenuray-Unal, Aysel; Cayir, Atilla; Papatya Cakir, Esra Deniz; Beyazit, Nurcan; Kolbasi, Baris; Gurpinar Tosun, Busra
    Context Duplications occurring upstream of the SOX9 gene have been identified in a limited subset of patients with 46,XX testicular/ovotesticular differences/disorders of sex development (DSD). However, comprehensive understanding regarding their clinical presentation and diagnosis is limited. Objective To gain further insight into the diagnosis of a large cohort of 46,XX individuals with duplications upstream of SOX9. Methods We retrospectively analyzed data of 46,XX/SRY-negative individuals with SOX9 upstream duplications. Clinical data were recorded, and genetic etiologies were investigated using karyotyping, fluorescence in situ hybridization (FISH) for SRY analysis, microarray analysis, multiplex ligation-dependent probe amplification (MLPA) and next-generation sequencing panels including whole genome sequencing. Results We analyzed 12 individuals with 46,XX karyotype who had heterozygous duplications upstream of SOX9, ranging from 107 to 941 kb. Ages at diagnosis ranged from 0.1 to 55 years. Seven (58%) had testicular/ovotesticular DSD, while 5 (41%) were asymptomatic carriers detected through family screening. There was no significant correlation between duplication size and genital/gonadal phenotype. The duplication was inherited from the father (n = 3) or an asymptomatic mother (n = 2). In one family, a duplication missed by the 300K microarray was detected by MLPA and confirmed with 750K microarray. Conclusion 46,XX individuals with SOX9 upstream duplications may exhibit no symptoms, but thorough family screening is crucial due to the potential inheritance and testicular/ovotesticular DSD risk in subsequent generations. We emphasize the effectiveness of high-resolution microarray analysis (>500K) as the primary diagnostic tool for 46,XX/SRY-negative testicular/ovotesticular DSD individuals, enabling thorough genome-wide assessment of copy number variations and detecting small alterations.
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    Retrospective evaluation of patients diagnosed with central precocious puberty who reached the final height
    (Walter De Gruyter Gmbh, 2024) Yaman, Kadri; Unal, Edip; Bestas, Asli; Karakaya, Amine Aktar; Beyazit, Nurcan; Kolbasi, Baris
    Objectives Central precocious puberty (CPP) is the onset of puberty before the age of 8 in girls and 9 in boys. The primary goal of CPP treatment is control and arrest of puberty development. In this study, it was aimed to determine the factors associated with final height in patients who received gonadotropin-releasing hormone analogs (GnRHa) treatment and reached their final height.Methods From the medical records of the patients, age on admission, bone age (BA), weight-standard deviation score (SDS), height-SDS, BMI-SDS, target height-SDS, basal LH, FSH, E2, age at menarche, and pelvic USG findings were obtained.Results The mean age on admission of the 67 female patients was 7.5 +/- 0.60 years. On admission, 4.5 % of the patients were obese and 19.4 % were overweight. There was no difference between BMI-SDS at admission and after treatment. The mean age at menarche was 11.57 +/- 0.78 years. About 58.2 % of the patients reached the target height, 35.8 % exceeded the target height, and 6 % were below the target height. The mean height-SDS and predicted adult height (PAH) on admission were better in patients who exceeded the target height. It was determined that target height-SDS had a positive effect on delta height-SDS, while BA/CA ratio had a negative effect.Conclusions It was found that GnRHa treatment did not have a negative effect on BMI-SDS. It was shown that 94 % of the patients who received GnRHa treatment reached the target height, and in fact, 35.8 % exceeded the target height. A greater final height may be associated with good height-SDS and PAH values on admission.