Medeniyet medical journal最新文献

Objective: Anxiety is inseparable from life due to its survival value. Up-to-date and multidimensional assessment of anxiety is necessary to develop effective interventions to cope with high anxiety levels. This study was conducted to examine the psychometrics of the Anxiety Assessment Scale (AAS).

Methods: Data were collected between January and April 2021 from 756 students (42.9% males and 57.1% females) studying medicine at Istanbul Medeniyet University. Seven experts evaluated the items to detect content validity in the final application form. Both exploratory and confirmatory factor analyses (EFA and CFA) were used for construct validity. The Beck Anxiety Inventory was also applied for concurrent validity. Test-retest reliabilities were calculated within four weeks. IBM SPSS 25 and AMOS 24 were used for statistical analyses.

Results: Data were suitable for factor analyses (Kaiser-Meyer-Olkin=0.800, chi-square=3018.854, df=45). The EFA showed the three-factor structure with 10 items, and 70.1% of the variance was explained. Factor loads of the items varied between 0.61 and 0.87; data-model fit was suitable (CFI=0.92, TLI=0.93, RMSEA=0.059, SRMR=0.046, chi-square/df=1.556) according to CFA. Concurrent scale validity was also confirmed by the Pearson correlation (r=0.167, p<0.01). The test-retest reliabilities (r) were all >0.5 (p<0.001). The Cronbach a coefficients were 0.845 (AAS), 0.770 (Physiological Tension=PT), 0.822 (Worrying=W), and 0.838 (Feeling Unsafe=FU).

Conclusions: AAS is a reliable and valid measurement instrument to assess anxiety levels in three dimensions. AAS can be applied for research, psychological assessment, and other appropriate application purposes.

Management of increased intracranial pressure in traumatic brain injury remains challenging in neurosurgical emergencies. The mainstay of medical management for increased intracranial pressure is hyperosmolar therapy with mannitol or hypertonic saline. Mannitol has been the "gold standard" osmotic agent for almost a century. Given its wide usage, there has been a dilemma of concern because of its adverse effects. Over the past few decades, hypertonic saline has become an increasingly better alternative. To date, there is no consensus on the optimal therapeutic dose and concentration of hypertonic saline for treating increased intracranial pressure. This systematic review aimed to compare the efficacy of hypertonic saline and mannitol in the management of traumatic brain injury and investigate the optimal dose and concentration of hypertonic saline for the treatment. Extensive research was conducted on PubMed, DOAJ, and Cochrane databases. Studies published within the last 20 years were included. Research articles in the form of meta-analyses, clinical trials, and randomized controlled trials were preferred. Those with ambiguous remarks, irrelevant correlations to the main issue, or a focus on other disorders were excluded. Nineteen studies were included in the systematic review. Eleven studies have stated that hypertonic saline and mannitol were equally efficacious, whereas eight studies have reported that hypertonic saline was superior. Moreover, 3% hypertonic saline was the main concentration most discussed in research. Improvements in increased intracranial pressure, cerebral perfusion pressure, survival rate, brain relaxation, and systemic hemodynamics were observed. Hypertonic saline is worthy of consideration as an excellent alternative to mannitol. This study suggests 3% hypertonic saline as the optimal concentration, with the therapeutic dose from 1.4 to 2.5 mL/kg, given as a bolus.

Objective: Ichthyosis is a clinically heterogeneous group of genodermatoses characterized by widespread drying and scaling of the skin. It is also a genetically heterogeneous disorder, and 67 genes associated with the disease have been identified to date. However, there are still undiscovered genes causing the disease.

Methods: We investigated 19 Turkish patients from 17 unrelated families using clinical exome sequencing or multigene panel screening.

Results: Sixteen likely pathogenic or pathogenic variants were detected in 13 unrelated patients. We identified "variant of unknown significance" alteration in only one patient. Seven novel variants were identified in ABCA12, ALOX12B, and ALOXE3. The most commonly mutated gene was TGM1, followed by ABCA12 and ALOX12B.

Conclusions: Because of the wide genetic variability of ichthyosis, it is difficult to diagnose the disease quickly and definitively. The clinical use of next-generation sequencing (NGS) methodologies is beneficial in the diagnostic approach to ichthyosis and genetic counseling. This study highlights the underlying molecular cause of ichthyosis by determining the mutational spectrum in a cohort of 19 patients. This study is the first and largest research from Turkey using NGS that highlights all ichthyosis subtypes.

Objective: This study aimed to demonstrate the diagnostic value of microarray testing in autism spectrum disorder, intellectual disability, and multiple congenital anomalies of unknown etiology, as well as to report some potential candidate genes for autism.

Methods: Microarray analysis records between January 2016 and December 2017 from two Genetic Diagnostic Centers in Turkey, Kanuni Sultan Suleyman and Adana Numune Training and Research Hospital, were compiled. Detected copy number variations (CNVs) were classified as benign, likely benign, variants of uncertain significance (VUS), likely pathogenic, and pathogenic according to American College of Medical Genetics and Genomics guidelines. The clinical findings of the some patients and the literature data were compared.

Results: In 109 (24.5%) of 445 patients, a total of 163 CNVs with reporting criterion feature were detected. Sixty-nine (42%) and 8 (5%) of these were evaluated as pathogenic and likely pathogenic, respectively. Fifteen (9%) CNVs were also evaluated as VUS. Pathogenic or likely pathogenic CNVs were detected in 61 (13.6%) of 445 patients.

Conclusions: We found that the probability of elucidating the etiology of microarray method in autism spectrum disorder, intellectual disability, and multiple congenital anomalies is 13.6% with a percentage similar to the literature. We suggest that the MYT1L, PXDN, TPO, and AUTS2 genes are all strong candidate genes for autism spectrum disorders. We detailed the clinical findings of the cases and reported that some CNV regions in the genome may be associated with autism.

Objective: Gastrointestinal duplications are rare congenital anomalies. Herein, we present a single institutional experience in pediatric gastrointestinal tract duplications.

Methods: Patient records from 2014 to 2019 were retrospectively evaluated for demographic data, clinical presentation, diagnostic methods, surgical findings, and pathological reports.

Results: This study included 19 patients, of whom 10 were males and nine were females, with a median age of 30 (21 days-15.5 years) months. Three patients were antenatally and three were incidentally diagnosed. Abdominal pain, vomiting, constipation, and perianal accessory orifice were the most common presenting symptoms. Preoperative diagnostic workup included ultrasonography (n=13), cross-sectional imaging (n=8), and nuclear scintigraphy (n=1). A preoperative diagnosis was possible in 14 (74%) patients. The duplications originated from the foregut in seven (37%) patients, midgut in seven (37%), and hindgut in five (26%). Cystic duplications were observed in 14 (74%) patients and tubular in five (26%). The total surgical excision with (n=8) or without (n=10) associated organ resection was possible in 18 patients. Partial cyst excision with a complete mucosal removal was done in 1 patient. Heterotopic mucosa was present in six (32%) specimens. The respiratory origin with thyroid transcription factor-1 positivity was contained in two para-esophageal duplications. Among five patients with heterotopic gastric mucosa, 1 had presented with perforation and the others with hemorrhage.

Conclusions: Duplications may involve any gastrointestinal segment. The clinical presentation is highly variable because of the wide variation in the involved segment and sizes and the possibility of bearing heterotopic mucosa. The surgery aims to totally excise the cyst or at least totally remove the inner mucosal lining.