Medeniyet medical journal最新文献

{"title":"How to Utilize CAT and mMRC Scores to Assess Symptom Status of Patients with COPD in Clinical Practice?","authors":"Esra Ertan Yazar,&nbsp;Elif Yelda Niksarlioglu,&nbsp;Burcu Yigitbas,&nbsp;Mesut Bayraktaroglu","doi":"10.4274/MMJ.galenos.2022.06787","DOIUrl":"https://doi.org/10.4274/MMJ.galenos.2022.06787","url":null,"abstract":"<p><strong>Objective: </strong>In this study, we aimed to investigate the compatibility of modified Medical Research Council (mMRC) and COPD assessment test (CAT) scores of chronic obstructive pulmonary disease (COPD) patients in terms of evaluation of their symptom status.</p><p><strong>Methods: </strong>The study was planned as a single-center, cross-sectional study. Statistically four separate receiver operating characteristic (ROC) curves of CAT scoring were generated for mMRC scores of 1 to 4.</p><p><strong>Results: </strong>Two hundred twenty eight patients with stable COPD, mean age 64.2±8.2 and 88.6% male were included. A strong positive correlation was detected between CAT and mMRC (r=0.60, p<0.001). However, it was observed that 32 patients had mMRC<2 but CAT≥10, while 21 patients had CAT<10 but mMRC≥2. Thus, in 53 patients CAT and mMRC scores were not identical in terms of assessed symptom status. According to the ROC analysis, the mMRC scores of 1 to 4 were most compatible with the CAT scores of 10, 10, 15, and 20, respectively.</p><p><strong>Conclusions: </strong>Expanding current data represents that CAT score of 10 could be more compatible with mMRC score of 1. Moreover we think although a high mMRC or CAT score may be sufficient to assign patients to high symptom groups, it is needed to evaluate mMRC and CAT together to assign a patient to a low symptom group. In this way misclassification of the patients with high symptoms due to insufficient symptom evaluation as if they have low symptoms can be prevented.</p>","PeriodicalId":37427,"journal":{"name":"Medeniyet medical journal","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/c4/8a/medj-37-173.PMC9234363.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40239991","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Heterogeneity of Genetic Landscapes in Salivary Gland Tumors and Their Critical Roles in Current Management.","authors":"Anam Yousaf,&nbsp;Sarina Sulong,&nbsp;Baharudin Abdullah,&nbsp;Norhafiza Mat Lazim","doi":"10.4274/MMJ.galenos.2022.63139","DOIUrl":"https://doi.org/10.4274/MMJ.galenos.2022.63139","url":null,"abstract":"<p><p>Salivary gland neoplasms (SGNs) are rare and heterogeneous tumors in the head and neck region. Although progress has been recently made in revealing the molecular landscape of salivary glands tumors, it is limited and appears to be the tip of the iceberg. Some genetic aberrations include chromosomal translocations, such as CRTC1/3-MAML2 in mucoepidermoid carcinoma, g MYB-NFIB gene fusions in adenoid cystic carcinoma, and PLAG1-HMGA2 gene changes in pleomorphic adenoma and carcinoma ex pleomorphic adenoma. These chromosomal translocations provide fresh insights into the molecular etiology of diverse SGNs and aid in their classification and in approaching treatment. In future, these genetic variations may serve as critical tools for diagnosing salivary gland tumors and optimizing the management as well as prognosis of patients. This review presents the most recent advances in the molecular pathology of salivary gland cancers, with an emphasis on distinguishing molecular features that can be used for optimizing current patient management.</p>","PeriodicalId":37427,"journal":{"name":"Medeniyet medical journal","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/6f/9e/medj-37-194.PMC9234367.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40239911","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effect of General Anesthesia on Auditory Brainstem Response Testing.","authors":"Ogulcan Gundogdu,&nbsp;Handan Yaman,&nbsp;Pelin Karaaslan,&nbsp;Mustafa Bulent Serbetcioglu","doi":"10.4274/MMJ.galenos.2022.25741","DOIUrl":"https://doi.org/10.4274/MMJ.galenos.2022.25741","url":null,"abstract":"<p><strong>Objective: </strong>The auditory brainstem response (ABR) test is usually applied during natural sleep, but it can also be conducted under anesthesia. This retrospective study aimed to compare the ABR findings of a general anesthesia group and a control group that underwent ABR test during natural sleep.</p><p><strong>Methods: </strong>The anesthesia group consisted of 42 (mean age 44.5±20.3 months) children, and the control group included 58 children (36.1±16.1 months). The results of the click ABR test of the two groups were compared in terms of amplitude, latency, interpeak latencies, and hearing thresholds.</p><p><strong>Results: </strong>The amplitudes of waves III and V were significantly decreased in the general anesthesia group compared with that in the control group. The ABR latencies of waves I and V and the interpeak latencies for I-V and III-V were prolonged in the anesthesia group compared with that in the control group. Moreover, the click threshold obtained in the anesthesia group was significantly higher than those of the control group.</p><p><strong>Conclusions: </strong>Clinicians and audiologists should advise families to know the effects of general anesthesia on ABR and be cautious in interpreting the results obtained in ABR test performed under anesthesia.</p>","PeriodicalId":37427,"journal":{"name":"Medeniyet medical journal","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/d8/52/medj-37-145.PMC9234361.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40240079","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Validity and Reliability of the Anxiety Assessment Scale: A New Three-dimensional Perspective.","authors":"Cem Malakcioglu","doi":"10.4274/MMJ.galenos.2022.75318","DOIUrl":"https://doi.org/10.4274/MMJ.galenos.2022.75318","url":null,"abstract":"<p><strong>Objective: </strong>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).</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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).</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":37427,"journal":{"name":"Medeniyet medical journal","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/a4/ad/medj-37-165.PMC9234362.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40240582","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Optimal Dose and Concentration of Hypertonic Saline in Traumatic Brain Injury: A Systematic Review.","authors":"Martin Susanto,&nbsp;Ika Riantri","doi":"10.4274/MMJ.galenos.2022.75725","DOIUrl":"https://doi.org/10.4274/MMJ.galenos.2022.75725","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":37427,"journal":{"name":"Medeniyet medical journal","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/c4/e4/medj-37-203.PMC9234368.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40239980","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic Etiology of Ichthyosis in Turkish Patients: Next-generation Sequencing Identified Seven Novel Mutations","authors":"Hanife Saat,&nbsp;Ibrahim Sahin,&nbsp;Neslihan Duzkale,&nbsp;Muzeyyen Gonul,&nbsp;Taha Bahsi","doi":"10.4274/MMJ.galenos.2022.39924","DOIUrl":"https://doi.org/10.4274/MMJ.galenos.2022.39924","url":null,"abstract":"<p><strong>Objective: </strong>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.</p><p><strong>Methods: </strong>We investigated 19 Turkish patients from 17 unrelated families using clinical exome sequencing or multigene panel screening.</p><p><strong>Results: </strong>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 <i>ABCA12, ALOX12B</i>, and <i>ALOXE3</i>. The most commonly mutated gene was <i>TGM1</i>, followed by <i>ABCA12</i> and <i>ALOX12B</i>.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":37427,"journal":{"name":"Medeniyet medical journal","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/7f/b9/medj-37-126.PMC9234365.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40237583","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diagnostic Value of Microarray Method in Autism Spectrum Disorder, Intellectual Disability, and Multiple Congenital Anomalies and Some Candidate Genes for Autism: Experience of Two Centers.","authors":"Akif Ayaz,&nbsp;Alper Gezdirici,&nbsp;Elif Yilmaz Gulec,&nbsp;Ozge Ozalp,&nbsp;Abdullah Huseyin Koseoglu,&nbsp;Zeynep Dogru,&nbsp;Sinem Yalcintepe","doi":"10.4274/MMJ.galenos.2022.70962","DOIUrl":"https://doi.org/10.4274/MMJ.galenos.2022.70962","url":null,"abstract":"<p><strong>Objective: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusions: </strong>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 <i>MYT1L, PXDN, TPO</i>, and <i>AUTS2</i> 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.</p>","PeriodicalId":37427,"journal":{"name":"Medeniyet medical journal","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/eb/5a/medj-37-180.PMC9234369.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40239992","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Gastrointestinal Tract Duplications in Children: A Tertiary Referral Center Experience.","authors":"Meltem Caglar Oskayli,&nbsp;Furkan Ersoy,&nbsp;Neslihan Gulcin,&nbsp;Ahmet Pirim,&nbsp;Seyhmus Kerem Ozel,&nbsp;Seyma Ozkanli,&nbsp;Cigdem Ulukaya Durakbasa","doi":"10.4274/MMJ.galenos.2022.46383","DOIUrl":"https://doi.org/10.4274/MMJ.galenos.2022.46383","url":null,"abstract":"<p><strong>Objective: </strong>Gastrointestinal duplications are rare congenital anomalies. Herein, we present a single institutional experience in pediatric gastrointestinal tract duplications.</p><p><strong>Methods: </strong>Patient records from 2014 to 2019 were retrospectively evaluated for demographic data, clinical presentation, diagnostic methods, surgical findings, and pathological reports.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":37427,"journal":{"name":"Medeniyet medical journal","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/27/a1/medj-37-138.PMC9234364.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40239105","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Multigene Panel Testing in Turkish Hereditary Cancer Syndrome Patients.","authors":"Esra Arslan Ates,&nbsp;Ayberk Turkyilmaz,&nbsp;Ceren Alavanda,&nbsp;Ozlem Yildirim,&nbsp;Ahmet Ilter Guney","doi":"10.4274/MMJ.galenos.2022.22556","DOIUrl":"https://doi.org/10.4274/MMJ.galenos.2022.22556","url":null,"abstract":"<p><strong>Objective: </strong>Hereditary cancer syndromes (HCSs) are a heterogenous group of disorders caused by germline pathogenic variations in various genes that function in cell growth and proliferation. This study aimed to describe the germline variations in patients with hereditary cancer using multigene panels.</p><p><strong>Methods: </strong>The molecular and clinical findings of 218 patients with HCS were evaluated. In addition, 25 HCS-related genes were sequenced using a multigene panel, and variations were classified according to the American College of Medical Genetics and Genomics (ACMG) criteria. In total, 218 HCS patients predominantly with breast, colorectal, ovarian, gastric, and endometrium cancers were included.</p><p><strong>Results: </strong>Pathogenic variations in 12 distinct genes were detected in 36 of 218 (16.5%) cases. In this study, the most affected gene was the ATM gene, in which pathogenic variations were detected in 8 of 218 cases, followed by CHEK2 (3.2%), MUTYH (3.2%), BRIP1 (1.8%), BARD1 (0.9%), TP53 (0.9%), PALB2 (0.4%), MLH1 (0.4%), MSH2 (0.4%), PMS2 (0.4%), RAD50 (0.4%), and RAD51C (0.4%).</p><p><strong>Conclusions: </strong>This study contributes to genotype-phenotype correlation in HCSs and expands the variation spectrum by introducing three novel pathogenic variations. The wide spectrum of the gene pathogenic variations detected and the presence of multiple gene defects in the same patient make the multigene panel testing a valuable tool in detecting the hereditary forms of cancer and providing effective genetic counseling and family specific screening strategies.</p><p><strong>Amaç: </strong>Herediter kanser sendromları (HCS) hücre büyümesi ve proliferasyonunda görevli genlerde saptanan germline mutasyonlardan kaynaklanan heterojen bir grup hastalıktır. Bu çalışmada kalıtımsal kanser sendrom ön tanısıyla değerlendirilen olgularda çoklu gen paneli ile germ hattı varyasyonlarının değerlendirilmesi planlanmıştır.</p><p><strong>Yöntemler: </strong>Kalıtımsal kanser sendromu düşünülen 218 olgudan periferik kandan DNA izolasyonu sonrası HCS ile ilişkili 25 gen multigen panel kullanılarak dizilendi ve varyasyonlar American College of Medical Genetics and Genomics (ACMG) kriterlerine göre değerlendirildi.</p><p><strong>Bulgular: </strong>Meme, kolorektal, over, gastrik ve endometriyum kanseri başta olmak üzere toplam 218 herediter kanser sendromlu olgu değerlendirildi. Tüm çalışma grubu incelendiğinde en sık ATM gen varyasyonları (8/218, %3,6) tespit edildi ve bunu sıklık sırasına göre CHEK2 (%3,2), MUTYH (%3,2), BRIP1 (%1,8), BARD1 (%0,9), TP53 (%0,9), PALB2 (%0,4), MLH1 (%0,4), MSH2 (%0,4), PMS2 (%0,4), RAD50 (%0,4), RAD51C (%0,4) varyasyonları takip etmekteydi.</p><p><strong>Sonuçlar: </strong>Bu çalışmada farklı kanser türlerinde kalıtımsal kansere yol açan genler analiz edilmiş ve fenotiple ilişkisi değerlendirilmiştir. Ayrıca bu çalışmada ilk kez saptanan üç yeni varyasyon ile literatüre katkı sağlanmakta","PeriodicalId":37427,"journal":{"name":"Medeniyet medical journal","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/23/29/medj-37-150.PMC9234359.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40240080","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Did Hospital Admissions Caused by Respiratory Infections and Asthma Decrease During the COVID-19 Pandemic?","authors":"Zeynep Reyhan Onay, Deniz Mavi, Yetkin Ayhan, Sinem Can Oksay, Gulay Bilgin, Saniye Girit","doi":"10.4274/MMJ.galenos.2022.02779","DOIUrl":"10.4274/MMJ.galenos.2022.02779","url":null,"abstract":"<p><strong>Objective: </strong>Despite maximum isolation measures taken during the coronavirus disease-2019 (COVID-19) pandemic, the workload of health institutions has increased. Consequently, changes in the number of admissions in clinics and emergency departments by disease groups have been observed. We aimed to quantitatively investigate the changes in the frequency of respiratory infections and asthma in the pediatric population during the COVID-19 pandemic.</p><p><strong>Methods: </strong>We analyzed electronic medical record data of patients who were admitted to the emergency department (ED), outpatient and inpatient clinics, and pediatric intensive care unit (PICU) because of influenza, upper and lower respiratory tract infections (URTI, LRTI), acute bronchiolitis, and asthma during the two-year period (one year pre-COVID period and first year of the pandemic).</p><p><strong>Results: </strong>There were 96,648 admissions in the pre-COVID period and 15,848 during the pandemic. We observed a decline in ED admissions (-73%), outpatient clinic visits (-70%), hospitalizations (-41.5%), and PICU admissions (-42%). While the admission rates of patients with influenza [from 4.26% to 0.37% (p=0.0001)] and URTI [from 81.54% to 75.62% (p=0.0001)] decreased, the ratio of the number of admissions to the total number of admissions due to LRTI [from 8.22% to 10.01% (p=0.0001)], acute bronchiolitis [from 2.76% to 3.07% (p=0.027)], and asthma [from 5.96% to 14% (p=0.0001)] increased.</p><p><strong>Conclusions: </strong>The decrease in viruses that cause acute bronchiolitis and asthma attacks lead to a reduction in admissions to ED of this patient group. The fact that parents preferred not to admit their child in ED during this period may have paved the way for the development of more severe LRTIs.</p>","PeriodicalId":37427,"journal":{"name":"Medeniyet medical journal","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2022-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8939444/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85319600","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}