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Congenital afibrinogenemia in a newborn 新生儿先天性纤维蛋白原血症
Pub Date : 2022-01-01 DOI: 10.5937/sanamed0-40292
Mustafa Özay, M. Kara, Z. Keskin
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.
简介:先天性纤维蛋白原血症是一种罕见的凝血障碍,其特征是纤维蛋白原分子缺乏。纤维蛋白原是由FGB、FGA和FGG编码的多肽链组成的六聚体糖蛋白,是正常止血所必需的。FGA、FGB和FGG的变化可能影响不同水平的纤维蛋白原。由于这些变化,血液中无法检测到纤维蛋白原。这些变化的临床表现从无症状到危及生命的出血或血栓栓塞事件。由于这是一种常染色体隐性遗传病,父母有亲属关系的儿童患此病的风险更高。因此,该病在近亲结婚率高的地区更为常见。诊断是通过实验室检查显示缺乏纤维蛋白原。这些患者需要接受纤维蛋白原替代疗法。病例介绍:本研究报告一例新生儿先天性纤维蛋白原血症。一级近亲婚姻所生婴儿因出血淤斑转诊至我院,经凝血检查诊断为纤原蛋白血症。将患者及其父母的血液样本送到遗传疾病诊断中心进行纤维蛋白原血症的遗传诊断。在患者中发现了一个新的FGB外显子7纯合突变:c.1220c>t (p.t407 m) (p.s r407 met)。患者的父母是杂合的,具有相同的突变。我们的患者在随访中无症状,不建议预防。结论:我们提出了一例诊断为先天性纤维蛋白原血症的出血性新生儿患者,并强调纤维蛋白原检测应包括在此类患者的评估中。此外,由于未知的特定突变基因引起的先天性纤维蛋白原疾病可能更为严重。因此,需要更多的中心基因分析来识别未诊断的纤维蛋白原和纤维蛋白原突变。
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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
Pub Date : 2022-01-01 DOI: 10.5937/sanamed0-40595
Fidan Hande, M. Günel, Haliloğlu Göknur, Eda Gülen, Kiper Pelin, Özlem Şimşek
Objective: To present the functional status of a child with 16p13.11 microduplication syndrome by evaluating it under the International Classification of the World Health Organization's International Framework for Functioning, Disability and Health (ICF). Case Description: An 11-year-old girl with 16p13.11 microduplication syndrome was assessed using the tools classified according to ICF for Children and Youth (ICF-CY) categories to evaluate body function, activity participation, and environmental factors. There was a wide range of problems, from body functions to activity participation and environmental factors. Besides these problems, there were social and cognitive disorders as well. Conclusion: Physical and cognitive problems in body function and activity together constitute great barriers to participation in daily life.
目的:根据世界卫生组织《国际功能、残疾和健康框架》(ICF)的国际分类,对1例16p13.11微复制综合征儿童的功能状况进行评价。病例描述:使用ICF for Children and Youth (ICF- cy)分类的工具评估患有16p13.11微复制综合征的11岁女孩,评估身体功能,活动参与和环境因素。存在各种各样的问题,从身体功能到活动参与和环境因素。除了这些问题,还有社会和认知障碍。结论:身体功能和活动方面的生理和认知问题共同构成参与日常生活的巨大障碍。
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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
Pub Date : 2022-01-01 DOI: 10.5937/sanamed0-40131
Sönmez Süleyman, Bozdağ Emre, Cingöz Mehmet, C. eda, S. Vugar
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.
背景:胆结石疾病是人群中经常遇到的问题,其病因多种多样,其症状范围广泛,从模糊的腹部不适到危及生命的疾病,需要紧急手术干预。磁共振胆管胰胆管造影(MRCP)已成为一种无创的放射诊断方法,广泛应用于胆道的评估,提供了良好的解剖细节。除了结石病因学文献中广泛描述的经典原因外,胆道解剖变异的影响是近年来研究的一个主题。本研究旨在揭示肝外胆道解剖变异对胆总管结石病因的影响。方法:回顾性分析2016 - 2021年我院收治的182例MRCP患者的资料。将患者分为无症状组和急性胆管炎组。在MRCP中,一位经验丰富的放射科医生分析了囊管、肝总管、胆总管长度和囊管开口的变化。结果:胆囊胆总管方差与患者间存在相关性(p<0.001)。两组患者囊管长度差异有统计学意义(p<0.05)。结论:肝外胆管病变的病因分析具有重要意义,对急性胆管炎的诊断具有重要意义。在这方面的文献中,有必要进行更大样本量的研究。
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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
Pub Date : 2022-01-01 DOI: 10.5937/sanamed0-40197
Tolevska Djoleva, N. Matveeva, D. Georgieva, Stojanoska Bojadzieva
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.
摘要:髋关节发育不良(DDH)型Graf IIa的治疗仍存在争议。本研究旨在探讨超声监测下的Pavlik套治疗的结果,以及相关因素,如性别、DDH侧边、治疗开始年龄和侧边对不同Graf II型亚型治疗结果的影响。方法:在斯科普里大学骨科诊所,对88名超声筛查的婴儿或125名诊断为Graf II型发育不良的婴儿进行队列回顾性调查,为期6个月。随后,47名婴儿(18名男孩,29名女孩)或73名髋关节接受了Pavlik套治疗,在整个治疗监测过程中至少进行了一次随访。结果:右侧DDH Graf IIa(-)型髋关节的治疗成功率(70.8%)高于左侧Graf IIa(-)型髋关节的治疗成功率(50%)。治疗成功的Graf型IIa(-)型髋关节患儿治疗开始时的平均年龄(9.12±2.27周)低于治疗失败患儿最后一次随访时的平均年龄(11.33±3.06周),P= 0.04。
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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
Pub Date : 2021-09-16 DOI: 10.24125/sanamed.v16i2.522
Sanamed Sanamed
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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
Pub Date : 2021-09-15 DOI: 10.24125/sanamed.v16i2.521
Sanamed Sanamed
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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
Pub Date : 2021-09-08 DOI: 10.24125/sanamed.v16i2.506
Neslihan Ergun Suzer, O. Sirkeci, E. E. Sirkeci
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.
目的:在快速序列插管(RSI)过程中,O2储备限制了插管持续时间。研究目的是检查RSI对动脉血气(ABG)在预氧阶段的影响。方法:这项开放的前瞻性临床研究检查了2014年3月至2014年9月在我们急诊科进行气管插管(ETI)的RSI患者的样本。观察插管前后ABG PaO2和PaCO2的变化,并与人口统计学和临床变量进行比较。结果:研究包括67名患者(46名男性,21名女性),平均年龄69.9岁。SBP、DBP和MABP降低,而脉率和SpO2增加。PaO2值与人口统计学和临床变量之间没有差异;气管插管(ETI)后和预氧后测得的PaO2值与预氧前ABG-SpO2和SpO2分类之间的差异(Δ)具有统计学意义。结论:SpO2与ETI及ABG-SpO2增高后的SpO2分级有统计学意义。我们的现实研究强调,在不使患者去饱和的情况下决定插管可能会对插管成功产生积极影响。无论如何,在ETI之前增加SpO2将对ETI结束时的O2储备做出积极贡献。预氧前后的ΔPaO2不受年龄的影响;性别体重指数(BMI)及其分类;GCSS;预氧前收集的生命体征和ABG结果;预氧期间的呼吸速率(RR);预氧持续时间;口腔空气通道使用或空气泄漏。
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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?
Pub Date : 2021-09-08 DOI: 10.24125/sanamed.v16i2.515
I. Sengul, D. Sengul
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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
Pub Date : 2021-09-08 DOI: 10.24125/sanamed.v16i2.509
G. Okut, M. Karahan
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.
目的:急性阑尾炎阑尾切除术后阑尾肿瘤常被偶然发现。本研究旨在报告我们通过回顾性检查阑尾切除术结果而发现的偶发恶性肿瘤病例。材料与方法:回顾性分析2016年1月至2020年1月在土耳其Van研究与培训医院外科行阑尾切除术的6748例病例。经组织病理学分析,22例患者发现低级别阑尾粘液瘤(LAMN)和阑尾神经内分泌肿瘤(NET)。记录患者的完整资料,包括人口统计学、实验室、影像学和组织病理学资料。结果:纳入研究的22例患者中位年龄为39岁(18-72岁),其中14例(63.6%)为女性。在探查期间,仅有4例(18%)患者怀疑为恶性肿瘤。组织学上,19例(83.4%)患者肿瘤位于阑尾远端,3例位于阑尾底部。组织病理学分析;结果:1级NET 15例,LAMN 5例,2级NET 1例,混合型(粘液+神经内分泌)1例。中位随访时间为45.5个月(范围:26-53个月)。在随访中,我们的一名患者因手术边缘的肿瘤接受了右侧半结肠切除术,被诊断为腹膜假性粘液瘤。结论:阑尾肿瘤常通过术后病理检查诊断。围手术期检查疑似恶性肿瘤的患者,应仔细检查腹内脏器,避免手术缘阳性。在阑尾的非常规表现中应始终牢记恶性风险。
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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
Pub Date : 2021-09-08 DOI: 10.24125/sanamed.v16i2.517
Ensar Durmuş, Fatih Guneysu, Necip Gokhan Guner, Nuray Aslan, Y. Yürümez
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.
引言:本研究旨在了解新冠肺炎轻微症状门诊患者在社会保障机构(SSI)的发票费用负担;此外,它可能对当前的经济形势产生了怎样的影响。材料和方法:本研究是一项横断面、回顾性和描述性研究。研究范围包括因新冠肺炎症状申请急诊室(ER)的病例。样本组是在2020年9月1日至2021年6月30日期间申请Sakarya培训研究医院(SEAH)流行病急诊室的患者。结果:在研究期间,130975名患者入住了新冠急诊室。这些病例的平均急救费用为10.6美元(±9),最低为2.2美元;最高为201.7美元。患者的年龄与发票金额之间存在微弱但显著的正相关(spearman=0.051,p=0.001)。住院患者的急诊服务费用(平均值=21.9美元)是门诊患者的两倍多(平均值=10.3美元)。结论:在流行性急诊室,症状轻微的年轻患者的账单可能很便宜。据观察,急诊医生在这一患者组中没有应用太多的检测和成像方法,只满足于Rt-PCR扫描。此外,急诊费用可能会随着年龄的增长而增加。
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引用次数: 0
期刊
Sanamed
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