Sanamed最新文献_第5页

Congenital afibrinogenemia in a newborn 新生儿先天性纤维蛋白原血症

Sanamed Pub Date : 2022-01-01 DOI: 10.5937/sanamed0-40292

Mustafa Özay, M. Kara, Z. Keskin

{"title":"Congenital afibrinogenemia in a newborn","authors":"Mustafa Özay, M. Kara, Z. Keskin","doi":"10.5937/sanamed0-40292","DOIUrl":"https://doi.org/10.5937/sanamed0-40292","url":null,"abstract":"Introduction: Congenital afibrinogenemia is a rare coagulation disorder characterized by a deficiency in the fibrinogen molecule. Fibrinogen is a hexameric glycoprotein consisting of a polypeptide chain encoded by FGB, FGA, and FGG and is required for normal hemostasis. Changes in FGA, FGB, and FGG may affect fibrinogen at different levels. As a result of these changes, fibrinogen cannot be detected in the blood. Clinical manifestations of such changes range from asymptomatic to life-threatening bleeding or thromboembolic events. Since it is an autosomal recessive disease, the risk is higher in children whose parents are related. Therefore, the disease is more common in regions where consanguineous marriage rates are high. Diagnosis is made by laboratory tests that show the absence of fibrinogen. These patients need to be treated with fibrinogen replacement therapy. Case presentation: This study reports the case of a newborn with congenital afibrinogenemia. The baby born from a first-degree consanguineous marriage was referred to our hospital due to bleeding and ecchymosis, and afibrinogenemia was diagnosed after coagulation tests were performed. Blood samples of the patient and his parents were sent to the Genetic Diseases Diagnosis Center for a genetic diagnosis of afibrinogenemia. A new homozygous mutation of FGB exon 7: c.1220c>t (p.t407 m) (p.thr407 met) was identified in the patient. The patients' parents were heterozygous for the same mutation. Prophylaxis was not recommended for our patient who was asymptomatic in the follow-up. DOI: 10.5937/sanamed0-40292 Case report Online First: October 28, 2022 ISSN-1452-662X 2 Conclusions: We present the case of a hemorrhagic neonatal patient diagnosed with congenital afibrinogenemia and emphasize that fibrinogen testing should be included in the evaluation of such patients. Furthermore, congenital fibrinogen disorders may be more severe when caused due to unknown specific mutation genes. Therefore, a more center-involved genetic analysis is required to identify undiagnosed fibrinogen and fibrinogen mutations.","PeriodicalId":53269,"journal":{"name":"Sanamed","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71046362","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Evaluation of a girl with 16p13.11 microduplication syndrome according to the International Classification of Functioning, Disability and Health perspectives 根据国际功能、残疾和健康分类对1例16p13.11微复制综合征女孩的评价

Sanamed Pub Date : 2022-01-01 DOI: 10.5937/sanamed0-40595

Fidan Hande, M. Günel, Haliloğlu Göknur, Eda Gülen, Kiper Pelin, Özlem Şimşek

引用次数: 0

The effect and importance of extrahepatic bile duct anatomy variations in the etiology of choledocholithiasis 肝外胆管解剖变异在胆总管结石病因学中的作用和重要性

Sanamed Pub Date : 2022-01-01 DOI: 10.5937/sanamed0-40131

Sönmez Süleyman, Bozdağ Emre, Cingöz Mehmet, C. eda, S. Vugar

{"title":"The effect and importance of extrahepatic bile duct anatomy variations in the etiology of choledocholithiasis","authors":"Sönmez Süleyman, Bozdağ Emre, Cingöz Mehmet, C. eda, S. Vugar","doi":"10.5937/sanamed0-40131","DOIUrl":"https://doi.org/10.5937/sanamed0-40131","url":null,"abstract":"Background: Biliary stone disease is a frequently encountered problem among the population with a variety of causes and resulting in a wide range of symptoms from vague abdominal discomfort to life-threatening conditions requiring urgent surgical intervention. Magnetic resonance cholangiopancreatography (MRCP) has become a noninvasive radiological diagnostic method extensively used in the evaluation of the biliary tract providing excellent anatomical detail. Apart from the classical causes widely described in the literature in stone etiology, the effect of anatomical variations of the bile tract is a subject that has been investigated recently. The present study aimed to manifest the effect of anatomical variations of the extrahepatic biliary tract on the etiology of choledocholithiasis. Methods: The data of 182 patients who underwent MRCP in our hospital between 2016 and 2021 were retrospectively scanned. The patients were divided into two groups, asymptomatic patients and acute cholangitis. Cystic duct, common hepatic duct, choledochal lengths, and variations in cystic duct opening were analyzed by an experienced radiologist in MRCP. Results: The relation was detected between the cystic choledochal variance of the patients (p<0.001). The cystic duct length of the patients showed statistically significant differences (p<0.05). Conclusion: When the extrahepatic bile duct variations were evaluated, some notable values were found for the etiology, as well as being critical in acute cholangitis. There is a need for studies with larger sample sizes in the literature on this subject.","PeriodicalId":53269,"journal":{"name":"Sanamed","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71045550","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Outcomes of ultrasound-monitored treatment of divelopmental dysplasia of the hip Graf type II 超声监测治疗II型髋关节移植物发育不良的疗效

Sanamed Pub Date : 2022-01-01 DOI: 10.5937/sanamed0-40197

Tolevska Djoleva, N. Matveeva, D. Georgieva, Stojanoska Bojadzieva

{"title":"Outcomes of ultrasound-monitored treatment of divelopmental dysplasia of the hip Graf type II","authors":"Tolevska Djoleva, N. Matveeva, D. Georgieva, Stojanoska Bojadzieva","doi":"10.5937/sanamed0-40197","DOIUrl":"https://doi.org/10.5937/sanamed0-40197","url":null,"abstract":"Introduction: The management of developmental dysplasia of the hips (DDH) type Graf IIa is still controversial. This study aims to examine the outcomes of ultrasound-monitored Pavlik harness treatment, as well as the effects of associated factors, such as gender, side of DDH, the age at the treatment start, and laterality on the treatment outcomes in different Graf type II subtypes. Methods: A cohort retrospective investigation was performed on 88 ultrasound-screened infants or 125 hips diagnosed with Graf type II dysplasia during a six-month period at a single institution, the University Clinic for Orthopedic Surgery, Skopje. Subsequently, 47 infants (18 boys, 29 girls) or 73 hips who underwent Pavlik harness treatment with at least one follow-up throughout treatment monitoring were included in this study. Results: The treatment success rate of the right DDH Graf type IIa (-) was higher (70.8%) compared to the rate of success (50%) in the treatment of left Graf type IIa (-) hips. The mean age of the infants at the treatment start in successfully treated Graf type IIa (-) hips was lower (9.12 ±2.27 weeks) compared to the age of the infants with treatment failure at the last follow-up (11.33 ±3.06 weeks), P= 0.04.","PeriodicalId":53269,"journal":{"name":"Sanamed","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71046411","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

RETRACTED ARTICLE: COMPARATIVE STUDY ON THE EVALUATION OF TEMPOROMANDIBULAR JOINT AND NECK STRUCTURES IN HEALTHY VOLUNTEERS AND IDIOPATHIC SCOLIOSIS PATIENTS 撤稿:健康志愿者与特发性脊柱侧凸患者颞下颌关节及颈部结构评价的比较研究

Sanamed Pub Date : 2021-09-16 DOI: 10.24125/sanamed.v16i2.522

Sanamed Sanamed

引用次数: 0

RETRACTED ARTICLE: ATRIAL FIBRILATION AND GAMA GLUTAMYL TRANSFERASE; OF-PUMP VERSUS ON-PUMP CORONARY ARTERY BYPASS SURGERY 撤稿文章:房颤与γ -谷氨酰转移酶;无泵与无泵的冠状动脉搭桥手术

Sanamed Pub Date : 2021-09-15 DOI: 10.24125/sanamed.v16i2.521

Sanamed Sanamed

引用次数: 0

THE IMPACT OF A RAPID SEQUENCE INTUBATION ON ARTERIAL BLOOD GASES DURING THE PREOXYGENATION PHASE PERFORMED IN A HOSPITAL EMERGENCY DEPARTMENT 快速顺序插管对医院急诊室预氧期动脉血气的影响

Sanamed Pub Date : 2021-09-08 DOI: 10.24125/sanamed.v16i2.506

Neslihan Ergun Suzer, O. Sirkeci, E. E. Sirkeci

{"title":"THE IMPACT OF A RAPID SEQUENCE INTUBATION ON ARTERIAL BLOOD GASES DURING THE PREOXYGENATION PHASE PERFORMED IN A HOSPITAL EMERGENCY DEPARTMENT","authors":"Neslihan Ergun Suzer, O. Sirkeci, E. E. Sirkeci","doi":"10.24125/sanamed.v16i2.506","DOIUrl":"https://doi.org/10.24125/sanamed.v16i2.506","url":null,"abstract":"Aim: During rapid sequence intubation (RSI), the O 2 reserve limits the intubation duration. The study objective was to examine the impact of RSI on arterial blood gases (ABG) during the preoxygenation phase. Methods: This open, prospective clinical study examined samples of patients who had endotracheal intubation (ETI) as RSI between March 2014 and September 2014 in our emergency department. The variations in ABG PaO 2 and PaCO 2 before and after preoxygenation and after intubation were examined and compared with demographic and clinical variables. Results : The study included 67 patients (46 male, 21 female) with a mean age of 69.9 years. SBP, DBP, and MABP decreased, while pulse rate and SpO 2 increased. No difference was observed between PaO 2 values and demographic and clinical variables; however, a statistically significant relationship was found between the difference (Δ) between PaO 2 values measured after endotracheal tracheal intubation (ETI) and after preoxygenation and the ABG SpO 2 and the SpO 2 classification before preoxygenation. Conclusion: The relationship between SpO 2 and its classification following ETI and increased ABG SpO 2 was statistically significant. Our real-life study emphasises that deciding on intubation without desaturating patients could have positive effects on intubation success. Regardless, increasing SpO 2 prior to ETI will contribute positively to the O 2 reserve by the end of ETI. The ΔPaO 2 , before and after preoxygenation, was not affected by age; gender; body mass index (BMI) and its classification; GCSS; vital signs and ABG findings gathered before preoxygenation; respiration rate (RR) during preoxygenation; preoxygenation duration; oral air passage usage or air leakage.","PeriodicalId":53269,"journal":{"name":"Sanamed","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48177991","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

DELICATE NEEDLE WITH THE FINEST GAUGE FOR A BUTTERFLY GLAND, THE THYROID:IS IT WORTH MENTIONING? 用最精细的针来测量蝴蝶腺体，甲状腺:值得一提吗?

Sanamed Pub Date : 2021-09-08 DOI: 10.24125/sanamed.v16i2.515

I. Sengul, D. Sengul

引用次数: 11

MALIGNANT TUMORS OF THE APPENDIX:EVALUATION OF 6748 APPENDECTOMY CASES 阑尾恶性肿瘤6748例分析

Sanamed Pub Date : 2021-09-08 DOI: 10.24125/sanamed.v16i2.509

G. Okut, M. Karahan

{"title":"MALIGNANT TUMORS OF THE APPENDIX:EVALUATION OF 6748 APPENDECTOMY CASES","authors":"G. Okut, M. Karahan","doi":"10.24125/sanamed.v16i2.509","DOIUrl":"https://doi.org/10.24125/sanamed.v16i2.509","url":null,"abstract":"Objective: Appendiceal neoplasms are usually diagnosed incidentally after appendectomy for the treatment of acute appendicitis. This study aimed to present incidental malignancy cases that we detected retrospectively by examining our appendectomy results. Materials and Methods: 6748 appendectomy cases performed in Van Research and Training Hospital, Department of Surgery, Turkey, between January 2016 and January 2020, were retrospectively analyzed. After histopathological analysis, 22 patients were found to have low-grade appendiceal mucinous neoplasia (LAMN) and appendiceal neuroendocrine tumors (NET). The complete data of the patients were recorded, including the demographic, laboratory, imaging, and histopathological data. Results: The median age of 22 patients included in the study was 39 years (18-72 years), and 14 (63.6%) were women. Malignancy was suspected in only 4 (18%) patients during exploration. Histologically, the tumor was located distally in 19 (83.4%) patients and was located at the base of the appendix in 3 patients. Histopathological analysis; resulted as grade 1 NET in 15 patients, LAMN in 5 patients, grade 2 NET in 1 patient, and mixed type (mucinous + neuroendocrine tumor) in 1 patient. The Median follow-up time was 45.5 months (range: 26-53). During the follow-up, one of our patients who underwent right hemicolectomy due to the tumor at the surgical margin was diagnosed with pseudomyxoma peritonei. Conclusion: Appendiceal neoplasms are often diagnosed in the results of postoperative pathological examinations. In patients with suspected malignancy during the perioperative examination, it is crucial to carefully examine intra-abdominal organs and avoid surgical margin positivity. Malignancy risks should always be kept in mind in non-routine appendix appearances.","PeriodicalId":53269,"journal":{"name":"Sanamed","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47709979","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

INVESTIGATION OF HEALTH INSURANCE COSTS OF THE PATIENTS WITH MILD COVID-19 SYMPTOMS IN EMERGENCY ROOM 新型冠状病毒肺炎轻症患者急诊医疗保险费用调查

Sanamed Pub Date : 2021-09-08 DOI: 10.24125/sanamed.v16i2.517

Ensar Durmuş, Fatih Guneysu, Necip Gokhan Guner, Nuray Aslan, Y. Yürümez

{"title":"INVESTIGATION OF HEALTH INSURANCE COSTS OF THE PATIENTS WITH MILD COVID-19 SYMPTOMS IN EMERGENCY ROOM","authors":"Ensar Durmuş, Fatih Guneysu, Necip Gokhan Guner, Nuray Aslan, Y. Yürümez","doi":"10.24125/sanamed.v16i2.517","DOIUrl":"https://doi.org/10.24125/sanamed.v16i2.517","url":null,"abstract":"Introduction: This study aims to understand the burden of invoice costs of outpatients with mild Covid-19 symptoms on Social Security Institution (SSI); also, how it may have influenced the current economic situation. Material and Method: This research is a cross-sectional, retrospective, and descriptive study. The study universe includes the cases who applied to the emergency room (ER) with the symptoms of Covid-19. The sample group was the patients who applied to the Sakarya Training and Research Hospital (SEAH) pandemic ER between 01/09/2020 and 30/06/2021. Results: During the study period, 130,975 patients were admitted to the pandemic ER. The mean emergency service bill of the cases was $10.6 (± 9), and the lowest was $2.2; the highest was $201.7. There was a weak but significant positive correlation between the patients' age and invoice amount (spearman= 0.051, p=0.001). It was perceived that the emergency service bills of the inpatients (mean=21.9 $) were more than twice that of the outpatients (mean=10.3 $). Conclusion: In pandemic ER, mild symptomatic young patients' bills can be cheap. It was observed that emergency physicians did not apply too many tests and imaging methods in this patient group and were content only with Rt-PCR scanning. Also, ER bills can increase with age.","PeriodicalId":53269,"journal":{"name":"Sanamed","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42161799","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0