Medeniyet medical journal最新文献_第10页

The Relationship Between Ossification in Metacarpophalangeal Sesamoids of the Thumb and the Period of Puberty: A Radiographic Study. 拇指掌指骨籽状骨骨化与青春期的关系:影像学研究。

Medeniyet medical journal Pub Date : 2022-12-28 DOI: 10.4274/MMJ.galenos.2022.66743

Rifat Sahin, Cengiz Kazadal

{"title":"The Relationship Between Ossification in Metacarpophalangeal Sesamoids of the Thumb and the Period of Puberty: A Radiographic Study.","authors":"Rifat Sahin, Cengiz Kazadal","doi":"10.4274/MMJ.galenos.2022.66743","DOIUrl":"https://doi.org/10.4274/MMJ.galenos.2022.66743","url":null,"abstract":"Objective: The current study aimed to determine the onset of sesamoid bones (Sbs) ossification at the thumb metacarpophalangeal (MCP) joint of the hand and its relationship with puberty.Methods: This retrospective radiographic study included patients aged 5-17 years. The presence of Sbs was investigated separately for each age group. Patients were classified based on their age, gender, and the presence of radial and ulnar sesamoids.Results: A total of 1,020 radiographs from 939 patients were analyzed. Sbs began to ossify in girls at the age of 8 years and in boys at the age of 9 years. The ulnar-radial sesamoids were present in all individuals in the same age group at the age of 13-14 years in girls and 15 years in boys. The age at which 50% of the individuals in the same age group had a sesamoid was 10.4 years in girls and 11.9 years in boys on the radial side, 9.5 years in girls, and 11.5 years in boys on the ulnar side.Conclusions: In all individuals, the time between the onset of sesamoids of the MCP joint and development corresponds to the physiological period of puberty. However, the age at which puberty begins coincides with the time when Sbs begin to ossify in 50% of both sexes in the same age group.","PeriodicalId":37427,"journal":{"name":"Medeniyet medical journal","volume":"37 4","pages":"300-305"},"PeriodicalIF":0.0,"publicationDate":"2022-12-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/e9/9b/medj-37-300.PMC9808854.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10514771","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}

引用次数: 1

Clinicopathological Features of Cutaneous Findings of SARS-CoV-2 Infection. SARS-CoV-2 感染皮肤症状的临床病理特征

IF 1.1

Medeniyet medical journal Pub Date : 2022-09-21 DOI: 10.4274/MMJ.galenos.2022.05046

Bengu Cobanoglu, Filiz Cebeci, Mustafa Simsek, Seyma Ozkanli

{"title":"Clinicopathological Features of Cutaneous Findings of SARS-CoV-2 Infection.","authors":"Bengu Cobanoglu, Filiz Cebeci, Mustafa Simsek, Seyma Ozkanli","doi":"10.4274/MMJ.galenos.2022.05046","DOIUrl":"10.4274/MMJ.galenos.2022.05046","url":null,"abstract":"Objective: In December 2019, severe acute respiratory syndrome coronavirus-2, which emerged in Wuhan, China, spread rapidly and created a pandemic. Coronavirus disease-2019 (COVID-19) can affect different organ systems, including the skin. Recently, COVID-19 cases with skin lesions of different clinicopathological features have been published. This study aimed to present the histopathological features of 19 COVID-19 cases with cutaneous findings and discuss them in light of the literature.Methods: Skin biopsy specimens of 19 patients with skin rashes associated with COVID-19 were evaluated histopathologically and clinically.Results: Clinical manifestations of rashes developed in eight female, seven male, and four pediatric patients with COVID-19. Urticaria/urticarial vasculitis (n=7), maculopapular eruption (n=7), panniculitis (n=2), purpuric eruptions (n=2), and livedoid-like lesions were noted. Histopathologically, besides the inflammatory findings, the most striking feature was that the vessels were more or less affected in almost all cases.Conclusions: Cutaneous lesions associated with COVID-19 are increasingly being reported. We believe that every data presented about this disease, which has many unknowns, will shed light on future research. Every case can lead us a new way.","PeriodicalId":37427,"journal":{"name":"Medeniyet medical journal","volume":"37 3","pages":"270-276"},"PeriodicalIF":1.1,"publicationDate":"2022-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/94/5b/medj-37-270.PMC9500323.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9175644","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}

引用次数: 0

Association of Epicardial Adipose Tissue Thickness with Cardiovascular Risk in Acromegaly. 肢端肥大症患者心外膜脂肪组织厚度与心血管风险的关系。

Medeniyet medical journal Pub Date : 2022-06-23 DOI: 10.4274/MMJ.galenos.2022.42492

Bulent Can, Fatma Olcay Coskun, Sercin Ozkok, Mumtaz Takir

{"title":"Association of Epicardial Adipose Tissue Thickness with Cardiovascular Risk in Acromegaly.","authors":"Bulent Can, Fatma Olcay Coskun, Sercin Ozkok, Mumtaz Takir","doi":"10.4274/MMJ.galenos.2022.42492","DOIUrl":"https://doi.org/10.4274/MMJ.galenos.2022.42492","url":null,"abstract":"Objective: Acromegaly is a rare disease associated with increased mortality. Reports on coronary artery disease in acromegaly are controversial. This study aimed to investigate the possible association of epicardial adipose tissue thickness with cardiovascular risk in patients with acromegaly.Methods: The study included 38 patients followed up with the diagnosis of acromegaly and 29 healthy controls. Patients with acromegaly were divided into controlled and uncontrolled acromegaly groups based on insulin-like growth factor-1 levels. Epicardial adipose tissue thickness measurements were obtained from chest computed tomography, and laboratory data were extracted from patient files.Results: Twenty-nine patients (76.3%) had controlled acromegaly. Eleven patients with acromegaly had diabetes mellitus (28.9%), 18 (47.4%) had hypertension, and 27 (71%) had a concomitant chronic disease. Epicardial adipose tissue thickness was significantly increased in the acromegaly group (p<0.001). No significant difference was observed between the controlled and uncontrolled acromegaly groups in terms of the epicardial adipose tissue thickness. Age was the only parameter that was significantly correlated with the epicardial adipose tissue thickness. When the Framingham risk score was calculated, the 10-year cardiovascular risk of patients with acromegaly was 5.63%.Conclusions: The epicardial adipose tissue thickness is increased in acromegaly. However, this increase may not have clinical relevance in terms of cardiovascular risk.","PeriodicalId":37427,"journal":{"name":"Medeniyet medical journal","volume":"37 2","pages":"131-137"},"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/56/e5/medj-37-131.PMC9234366.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40239104","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}

引用次数: 0

Long-term Results in Children with Henoch-Schönlein Nephritis. Henoch-Schönlein肾炎患儿的长期疗效。

Medeniyet medical journal Pub Date : 2022-06-23 DOI: 10.4274/MMJ.galenos.2022.92331

Caner Aslan, Nilufer Goknar, Emre Kelesoglu, Diana Uckardes, Cengiz Candan

{"title":"Long-term Results in Children with Henoch-Schönlein Nephritis.","authors":"Caner Aslan, Nilufer Goknar, Emre Kelesoglu, Diana Uckardes, Cengiz Candan","doi":"10.4274/MMJ.galenos.2022.92331","DOIUrl":"https://doi.org/10.4274/MMJ.galenos.2022.92331","url":null,"abstract":"Objective: Henoch-Schönlein purpura (HSP) is a small vessel vasculitis and palpable purpura, with arthritis, gastrointestinal as abdominal pain, and renal involvement as typical clinical findings. The most important prognostic factor for HSP vasculitis is renal involvement. This study aimed to investigate the relationship between clinical, laboratory, and histopathologic findings of children with HSP nephritis with long-term renal prognosis.Methods: This retrospective study included children with HSP nephritis between January 2010 and December 2019. Initial clinical presentation, laboratory findings, and kidney biopsy results were obtained, and treatment modalities were recorded and classified using the Meadow classification and grouped into mild and severe cases. Additionally, data at the last follow-up were analyzed and classified.Results: A total of 90 children (59 male) with a mean age of 8.8±3.2 years were included. According to initial clinical findings, 18 children were in the Meadow's severe group. Fifteen (15/72) children in the mild group and all children in the severe group had undergone kidney biopsy. The severe group had higher histopathologic stages compared to the mild group (p=0.022). Immunosuppressive treatments were used in 44.4% of mild cases and 100% of severe cases (p<0.01). On follow-up, only four children (two in the mild group) had persistent proteinuria.Conclusions: Severe clinical findings in the initial presentation were related to more intensive immunosuppressive treatment. Additionally, renal histopathological stages were higher in the severe group. Long-term follow-up for proteinuria is mandatory for all children with HSP nephritis, even with mild initial clinical findings.","PeriodicalId":37427,"journal":{"name":"Medeniyet medical journal","volume":"37 2","pages":"159-164"},"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/0e/26/medj-37-159.PMC9234360.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40239979","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}

引用次数: 0

How to Utilize CAT and mMRC Scores to Assess Symptom Status of Patients with COPD in Clinical Practice? 在临床实践中如何利用CAT和mMRC评分来评估COPD患者的症状状态?

Medeniyet medical journal Pub Date : 2022-06-23 DOI: 10.4274/MMJ.galenos.2022.06787

Esra Ertan Yazar, Elif Yelda Niksarlioglu, Burcu Yigitbas, Mesut Bayraktaroglu

{"title":"How to Utilize CAT and mMRC Scores to Assess Symptom Status of Patients with COPD in Clinical Practice?","authors":"Esra Ertan Yazar, Elif Yelda Niksarlioglu, Burcu Yigitbas, Mesut Bayraktaroglu","doi":"10.4274/MMJ.galenos.2022.06787","DOIUrl":"https://doi.org/10.4274/MMJ.galenos.2022.06787","url":null,"abstract":"Objective: 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.Methods: 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.Results: 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.Conclusions: 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.","PeriodicalId":37427,"journal":{"name":"Medeniyet medical journal","volume":"37 2","pages":"173-179"},"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}

引用次数: 4

Heterogeneity of Genetic Landscapes in Salivary Gland Tumors and Their Critical Roles in Current Management. 唾液腺肿瘤遗传景观的异质性及其在当前治疗中的关键作用。

Medeniyet medical journal Pub Date : 2022-06-23 DOI: 10.4274/MMJ.galenos.2022.63139

Anam Yousaf, Sarina Sulong, Baharudin Abdullah, Norhafiza Mat Lazim

{"title":"Heterogeneity of Genetic Landscapes in Salivary Gland Tumors and Their Critical Roles in Current Management.","authors":"Anam Yousaf, Sarina Sulong, Baharudin Abdullah, Norhafiza Mat Lazim","doi":"10.4274/MMJ.galenos.2022.63139","DOIUrl":"https://doi.org/10.4274/MMJ.galenos.2022.63139","url":null,"abstract":"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.","PeriodicalId":37427,"journal":{"name":"Medeniyet medical journal","volume":"37 2","pages":"194-202"},"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}

引用次数: 4

Effect of General Anesthesia on Auditory Brainstem Response Testing. 全麻对听觉脑干反应测试的影响。

Medeniyet medical journal Pub Date : 2022-06-23 DOI: 10.4274/MMJ.galenos.2022.25741

Ogulcan Gundogdu, Handan Yaman, Pelin Karaaslan, Mustafa Bulent Serbetcioglu

{"title":"Effect of General Anesthesia on Auditory Brainstem Response Testing.","authors":"Ogulcan Gundogdu, Handan Yaman, Pelin Karaaslan, Mustafa Bulent Serbetcioglu","doi":"10.4274/MMJ.galenos.2022.25741","DOIUrl":"https://doi.org/10.4274/MMJ.galenos.2022.25741","url":null,"abstract":"Objective: 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.Methods: 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.Results: 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.Conclusions: 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.","PeriodicalId":37427,"journal":{"name":"Medeniyet medical journal","volume":"37 2","pages":"145-149"},"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}

引用次数: 2

Validity and Reliability of the Anxiety Assessment Scale: A New Three-dimensional Perspective. 焦虑评估量表的效度与信度:一个新的三维视角。

Medeniyet medical journal Pub Date : 2022-06-23 DOI: 10.4274/MMJ.galenos.2022.75318

Cem Malakcioglu

{"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":"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.","PeriodicalId":37427,"journal":{"name":"Medeniyet medical journal","volume":"37 2","pages":"165-172"},"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}

引用次数: 0

Optimal Dose and Concentration of Hypertonic Saline in Traumatic Brain Injury: A Systematic Review. 高渗盐水在创伤性脑损伤中的最佳剂量和浓度:一项系统综述。

Medeniyet medical journal Pub Date : 2022-06-23 DOI: 10.4274/MMJ.galenos.2022.75725

Martin Susanto, Ika Riantri

{"title":"Optimal Dose and Concentration of Hypertonic Saline in Traumatic Brain Injury: A Systematic Review.","authors":"Martin Susanto, Ika Riantri","doi":"10.4274/MMJ.galenos.2022.75725","DOIUrl":"https://doi.org/10.4274/MMJ.galenos.2022.75725","url":null,"abstract":"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.","PeriodicalId":37427,"journal":{"name":"Medeniyet medical journal","volume":"37 2","pages":"203-211"},"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}

引用次数: 2

Genetic Etiology of Ichthyosis in Turkish Patients: Next-generation Sequencing Identified Seven Novel Mutations 土耳其患者鱼鳞病的遗传病因学:新一代测序鉴定了七个新的突变

Medeniyet medical journal Pub Date : 2022-06-23 DOI: 10.4274/MMJ.galenos.2022.39924

Hanife Saat, Ibrahim Sahin, Neslihan Duzkale, Muzeyyen Gonul, Taha Bahsi

{"title":"Genetic Etiology of Ichthyosis in Turkish Patients: Next-generation Sequencing Identified Seven Novel Mutations","authors":"Hanife Saat, Ibrahim Sahin, Neslihan Duzkale, Muzeyyen Gonul, Taha Bahsi","doi":"10.4274/MMJ.galenos.2022.39924","DOIUrl":"https://doi.org/10.4274/MMJ.galenos.2022.39924","url":null,"abstract":"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.","PeriodicalId":37427,"journal":{"name":"Medeniyet medical journal","volume":"37 2","pages":"126-130"},"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}

引用次数: 1