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Hematological diseases and the heart. 血液疾病和心脏
IF 1.2 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-12-02 eCollection Date: 2024-01-01 DOI: 10.55730/1300-0144.5929
Ferda Can

The heart, as the main part of the circulatory system, is one of the organs frequently affected by hematological diseases. Cardiac problems may develop during the course and treatment of benign and malignant hematological diseases. This review study was conducted based on recent information from the literature and manifestations of cardiac involvement in hematology were summarized. Determining appropriate cardiac approaches in cases of hematological diseases with relevant knowledge and experience regarding the development of cardiac involvement in pathophysiological conditions has an important role in the diagnosis and treatment processes of patients. This review provides relevant information about hematological diseases and the heart, and key points that will help in the diagnosis and treatment process are presented.

心脏作为血液循环系统的主要组成部分,是血液学疾病多发的脏器之一。在良性和恶性血液病的治疗过程中,心脏问题可能会发生。本综述是基于最近的文献资料,并总结血液学中心脏受累的表现。在血液病病例中,结合心脏参与病理生理状况的相关知识和经验,确定合适的心脏入路在患者的诊断和治疗过程中具有重要作用。本文综述了血液病与心脏的相关信息,并提出了有助于诊断和治疗的要点。
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引用次数: 0
Evaluation of single-layer versus double-layer suturing of low transverse uterine incisions in cesarean section and follow-up of scars by ultrasound: a prospective randomized controlled study. 剖宫产术中子宫低位横切口单层缝合与双层缝合的评价及疤痕超声随访:一项前瞻性随机对照研究。
IF 1.2 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-11-05 eCollection Date: 2024-01-01 DOI: 10.55730/1300-0144.5906
Erhan Demirdağ, Hazal Kutlucan, Anıl Doğukan Tutal, Bilge Pınar Çalişkan Keskinsoy, Gülşah Karakuyu, Recep Onur Karabacak

Background/aim: Cesarean section (CS) is a widely performed operation worldwide but data about uterine closure are lacking. We aimed to evaluate scar niches and compare single-layer and double-layer uterine closure at 6 months following CS.

Materials and methods: This prospective randomized trial assessed 56 women undergoing single- or double-layer uterine closure. None of the patients had previous uterine surgery and all CS cases were elective. Transvaginal ultrasound was performed 6 months after CS to assess the uterine scars by measuring the width, depth, and length of the scar niche and residual myometrial thickness. An experienced sonographer was blinded to the uterine closure technique and the ultrasounds were conducted by practitioners unaware of the technique in the postoperative follow-up appointments.

Results: Twenty-eight women were assigned to the single-layer closure group (Group 1) and 28 were assigned to the double-layer closure group (Group 2). The demographic and clinical characteristics of patients and the width, depth and diameter of the niche were similar between the groups, as was residual myometrial thickness. There was no difference in uterine scar volume under the incision between the two groups. The duration of surgery was approximately 5 min longer (p = 0.048) and hemoglobin decrease was about 0.5 g/dL less (p = 0.039) in the double-layer group compared to the single-layer group. Postmenstrual spotting rates were similar between the groups. Group 1 had two and Group 2 had one spontaneous pregnancy within 6 months after CS.

Conclusion: The single- and double-layer closure techniques do not produce different impacts on CS niche features at 6 months after delivery. Ultrasound might be an important noninvasive diagnostic tool for understanding CS scar remodeling.

背景/目的:剖宫产术(CS)是世界范围内广泛实施的手术,但关于子宫闭合的资料缺乏。我们的目的是评估瘢痕壁龛,并在CS术后6个月比较单层和双层子宫闭合。材料和方法:这项前瞻性随机试验评估了56名接受单层或双层子宫关闭术的妇女。所有患者均无既往子宫手术史,CS病例均为选择性。术后6个月行阴道超声检查,通过测量瘢痕壁龛的宽度、深度、长度和残余肌层厚度来评估子宫瘢痕。一位经验丰富的超声医师对子宫关闭技术一无所知,超声是由不了解该技术的从业者在术后随访预约中进行的。结果:28名女性被分配到单层封闭组(1组),28名女性被分配到双层封闭组(2组)。两组患者的人口统计学和临床特征以及生态位的宽度、深度和直径相似,残余肌层厚度也相似。两组切口下子宫瘢痕体积差异无统计学意义。与单层组相比,双层组手术时间延长约5 min (p = 0.048),血红蛋白降低约0.5 g/dL (p = 0.039)。两组月经后点滴率相似。术后6个月内,1组2例,2组1例。结论:单、双层缝合技术对产后6个月宫颈微位特征的影响无显著差异。超声可能是了解CS瘢痕重塑的重要无创诊断工具。
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引用次数: 0
Transition of patients with systemic lupus erythematosus from pediatric to adult-oriented rheumatology care. 系统性红斑狼疮患者从儿科到成人风湿病护理的转变。
IF 1.2 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-11-05 eCollection Date: 2024-01-01 DOI: 10.55730/1300-0144.5900
Seher Şener, Gözde Kübra Yardimci, Ezgi Deniz Batu, Levent Kiliç, Ümmüşen Kaya Akça, Müşerref Kasap Cüceoğlu, Zeynep Balik, Özge Başaran, Yelda Bilginer, Şule Apraş Bilgen, Seza Özen

Background/aim: The transition from pediatric to adult-oriented care for individuals with juvenile-onset systemic lupus erythematosus (SLE) poses significant challenges. This study aimed to assess the outcomes of transitioning patients with juvenile-onset SLE from pediatric to adult-oriented care.

Materials and methods: Patients with juvenile-onset SLE were included in the study. They were transferred in face-to-face meetings where at least one pediatric rheumatologist and one adult rheumatologist were present (transition time: October-December 2020).

Results: The median (25th-75th percentile) age at diagnosis and the time of the first examination in an adult-oriented rheumatology department of the included 65 SLE patients were 14.3 (10.9-15.1) years and 19.2 (18.5-20.4) years, respectively (female/male ratio: 7.1). There was no difference in clinical findings related to SLE between the last pediatric care visit and the last adult-oriented care visit other than constitutional symptoms being more prevalent in adult-oriented care (p = 0.039). There was a higher rate of low medication adherence in the post- than pretransition period (p = 0.003). The number of patients admitted to the emergency department during follow-up in adult-oriented care was higher (p = 0.009). Additionally, patients were more likely to miss at least one scheduled appointment in the post- than pretransition period (p = 0.002).

Conclusion: We observed that patients with juvenile-onset SLE had more constitutional symptoms, lower medication compliance, higher rates of emergency department visits, and more missed appointments in the posttransition period despite a face-to-face structured transition process. We hope that future studies will offer solutions to the problems in transitional care.

背景/目的:从儿童到成人为导向的护理转变为青少年发病的系统性红斑狼疮(SLE)个体提出了重大挑战。本研究旨在评估青少年SLE患者从儿科转向成人导向治疗的结果。材料与方法:研究对象为青少年SLE患者。他们通过面对面的会议转移,至少有一名儿科风湿病学家和一名成人风湿病学家在场(过渡时间:2020年10月至12月)。结果:纳入的65例SLE患者的诊断年龄中位数(25 -75百分位)为14.3(10.9-15.1)岁,首次在成人风湿科就诊时间为19.2(18.5-20.4)岁(男女比:7.1)。在最后一次儿科护理和最后一次成人护理之间,除了体质症状在成人护理中更为普遍外,与SLE相关的临床发现没有差异(p = 0.039)。转轨后的低依从率高于转轨前(p = 0.003)。在以成人为导向的护理随访期间,急诊科收治的患者数量较高(p = 0.009)。此外,患者在转换后比转换前更有可能错过至少一次预约(p = 0.002)。结论:我们观察到,青少年起病的SLE患者有更多的体质症状,更低的药物依从性,更高的急诊科就诊率,以及更多的错过后过渡期,尽管面对面的结构化过渡过程。我们希望未来的研究能为过渡性护理问题提供解决方案。
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引用次数: 0
The difference between clinical significance and statistical significance: an important distinction for clinical research. 临床显著性与统计学显著性的区别:临床研究的重要区别。
IF 1.2 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-11-03 eCollection Date: 2024-01-01 DOI: 10.55730/1300-0144.5925
Sadi Elasan
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引用次数: 0
Cardiac effects and comorbidities of neurological diseases. 神经系统疾病对心脏的影响和合并症。
IF 1.2 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-10-31 eCollection Date: 2024-01-01 DOI: 10.55730/1300-0144.5928
Bilgin Öztürk

Neurological disorders encompass a complex and heterogeneous spectrum of diseases affecting the brain, spinal cord, and peripheral nervous system, each presenting unique challenges that extend well beyond primary neurological symptoms. These disorders profoundly impact cardiovascular health, prompting an intensified exploration into the intricate interconnections between the neurological and cardiovascular systems. This review synthesizes current insights and research on cardiovascular comorbidities associated with major neurological conditions, including stroke, epilepsy, Parkinson's disease, multiple sclerosis, and Alzheimer's disease. The cardiovascular sequelae of these neurological disorders are multifactorial. For instance, strokes not only predispose individuals to arrhythmia and heart failure but also exacerbate preexisting cardiovascular risk factors. Similarly, epilepsy is associated with autonomic dysregulation and an elevated risk of sudden cardiac death, underscoring the necessity for vigilant cardiac monitoring in affected individuals. Parkinson's disease manifests with orthostatic hypotension and cardiac sympathetic denervation, significantly contributing to morbidity. Additionally, multiple sclerosis and Alzheimer's disease exhibit cardiovascular autonomic dysfunction and heightened cardiovascular risk, underscoring the need for proactive management strategies. Mechanistically, these conditions disrupt autonomic nervous system regulation, induce chronic inflammation, and may share genetic susceptibilities, each contributing to cardiovascular pathology. Effective management of these complexities requires an integrative approach that includes risk factor modification, pharmacotherapy, lifestyle interventions, and comprehensive patient education. Future research directions include identifying novel therapeutic targets, conducting large-scale clinical trials, and investigating genetic biomarkers to individualize treatment strategies. By addressing the multifaceted interactions between neurological disorders and cardiovascular health, healthcare providers can optimize patient care, reducing cardiovascular morbidity and mortality in this vulnerable population.

神经系统疾病包括影响脑、脊髓和周围神经系统的复杂和异质性疾病,每种疾病都有独特的挑战,远远超出了原发性神经系统症状。这些疾病深刻地影响心血管健康,促使人们深入探索神经系统和心血管系统之间错综复杂的相互联系。这篇综述综合了与主要神经系统疾病相关的心血管合并症的最新见解和研究,包括中风、癫痫、帕金森病、多发性硬化症和阿尔茨海默病。这些神经系统疾病的心血管后遗症是多因素的。例如,中风不仅使个体易患心律失常和心力衰竭,而且还加剧了先前存在的心血管危险因素。同样,癫痫与自主神经失调和心源性猝死的风险升高有关,强调了对受影响个体进行警惕心脏监测的必要性。帕金森病表现为体位性低血压和心脏交感神经失支配,是导致发病的重要因素。此外,多发性硬化症和阿尔茨海默病表现出心血管自主神经功能障碍和心血管风险增加,强调需要积极主动的管理策略。从机制上讲,这些情况破坏自主神经系统调节,诱发慢性炎症,并可能具有遗传易感性,每一种都有助于心血管病理。对这些复杂性的有效管理需要一种综合方法,包括危险因素调整、药物治疗、生活方式干预和全面的患者教育。未来的研究方向包括寻找新的治疗靶点,开展大规模临床试验,研究遗传生物标志物以个性化治疗策略。通过解决神经系统疾病和心血管健康之间多方面的相互作用,医疗保健提供者可以优化患者护理,降低这一弱势群体的心血管发病率和死亡率。
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引用次数: 0
High sacral slope, lumbar lordosis, and sacral slope-to-pelvic incidence ratio are associated with new bone formation in ankylosing spondylitis. 强直性脊柱炎患者的高骶骨斜度、腰椎前凸和骶骨斜度-骨盆发生率与新骨形成有关。
IF 1.2 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-10-25 eCollection Date: 2024-01-01 DOI: 10.55730/1300-0144.5915
Aysun Aksoy, Cemal Aydın Gündoğmuş, Mehmet Deniz Kesimer, Kemal Nas, İkram Eda Duman, Gazanfer Ekinci, Murat Bezer, Pamir Atagündüz

Background/aim: Syndesmophyte formation appears to be site-specific in ankylosing spondylitis (AS) and new bone formation seems to occur in regions of microtrauma that are prone to tensile forces. Pelvic and spinal parameters are unique for each individual. Pelvic tilt and sacral slope are important anatomical features that compensate in harmony in keeping the sagittal balance. After puberty, the sacral slope shapes the lumbar lordosis, whereas the pelvic incidence has an individual constant value. This study aimed to analyze the properties of pelvic parameters in AS patients with and without syndesmophyte formation in the spine after 15 years of disease duration.

Materials and methods: Whole-spine radiographs and clinical data of 104 AS patients were analyzed according to radiographic damage in the spine. AS patients were grouped as those with and without syndesmophytes. Patients with complete bridging in at least one vertebral unit were excluded. Sacral slope, pelvic tilt, pelvic incidence, and lumbar lordosis were measured.

Results: The mean disease duration was 14.5 years and 60% of the AS patients were male. The groups were similar in terms of age, sex distribution, and disease duration. Although numerically higher in patients with syndesmophytes, the mean pelvic incidence of AS patients was not significantly different between groups (55.2 ± 13.6 vs. 57.2 ± 15.4). The sacral slope was higher in patients with lumbar syndesmophytes (p < 0.005).

Conclusion: The sacral slope was significantly higher in patients with syndesmophytes, which in turn resulted in increased lumbar lordosis. Our results imply that the individual shape of the spine affects the distribution of weight and tensile forces in AS, and some patients are possibly more prone to new bone formation due to altered repetitive microtrauma in the general genetic background of AS. Prospective studies addressing this cross-sectional observation may contribute to the development of new treatment strategies addressing mechanical load and may aid in decreasing the management costs of AS with the present biological therapies targeting new bone formation.

背景/目的:强直性脊柱炎(AS)伴骨形成似乎是部位特异性的,新骨形成似乎发生在易受拉伸力影响的微创伤区域。每个人的骨盆和脊柱参数都是独特的。骨盆倾斜和骶骨倾斜是重要的解剖特征,在保持矢状面平衡中相互协调补偿。青春期后,骶骨斜坡形成腰椎前凸,而骨盆发病率有个体恒定值。本研究旨在分析患有和不患有脊柱联合苔藓形成的AS患者在疾病持续15年后骨盆参数的特性。材料与方法:对104例AS患者的全脊柱x线片及临床资料进行分析。AS患者分为有综合征和无综合征两组。排除至少一个椎体单元有完全桥接的患者。测量骶骨坡度、骨盆倾斜、骨盆发生率和腰椎前凸。结果:AS患者平均病程14.5年,男性占60%。这些组在年龄、性别分布和疾病持续时间方面相似。虽然伴有综合征的患者的数值较高,但AS患者的平均盆腔发生率在两组间无显著差异(55.2±13.6 vs. 57.2±15.4)。腰椎联合病患者的骶骨斜率较高(p < 0.005)。结论:胫腓综合征患者的骶骨坡度明显增高,进而导致腰椎前凸增加。我们的研究结果表明,个体脊柱形状会影响AS患者体重和拉力的分布,并且在AS的一般遗传背景下,由于重复性微创伤的改变,一些患者可能更容易形成新骨。针对这一横断面观察的前瞻性研究可能有助于开发针对机械负荷的新治疗策略,并可能有助于降低目前针对新骨形成的生物疗法对AS的管理成本。
{"title":"High sacral slope, lumbar lordosis, and sacral slope-to-pelvic incidence ratio are associated with new bone formation in ankylosing spondylitis.","authors":"Aysun Aksoy, Cemal Aydın Gündoğmuş, Mehmet Deniz Kesimer, Kemal Nas, İkram Eda Duman, Gazanfer Ekinci, Murat Bezer, Pamir Atagündüz","doi":"10.55730/1300-0144.5915","DOIUrl":"10.55730/1300-0144.5915","url":null,"abstract":"<p><strong>Background/aim: </strong>Syndesmophyte formation appears to be site-specific in ankylosing spondylitis (AS) and new bone formation seems to occur in regions of microtrauma that are prone to tensile forces. Pelvic and spinal parameters are unique for each individual. Pelvic tilt and sacral slope are important anatomical features that compensate in harmony in keeping the sagittal balance. After puberty, the sacral slope shapes the lumbar lordosis, whereas the pelvic incidence has an individual constant value. This study aimed to analyze the properties of pelvic parameters in AS patients with and without syndesmophyte formation in the spine after 15 years of disease duration.</p><p><strong>Materials and methods: </strong>Whole-spine radiographs and clinical data of 104 AS patients were analyzed according to radiographic damage in the spine. AS patients were grouped as those with and without syndesmophytes. Patients with complete bridging in at least one vertebral unit were excluded. Sacral slope, pelvic tilt, pelvic incidence, and lumbar lordosis were measured.</p><p><strong>Results: </strong>The mean disease duration was 14.5 years and 60% of the AS patients were male. The groups were similar in terms of age, sex distribution, and disease duration. Although numerically higher in patients with syndesmophytes, the mean pelvic incidence of AS patients was not significantly different between groups (55.2 ± 13.6 vs. 57.2 ± 15.4). The sacral slope was higher in patients with lumbar syndesmophytes (p < 0.005).</p><p><strong>Conclusion: </strong>The sacral slope was significantly higher in patients with syndesmophytes, which in turn resulted in increased lumbar lordosis. Our results imply that the individual shape of the spine affects the distribution of weight and tensile forces in AS, and some patients are possibly more prone to new bone formation due to altered repetitive microtrauma in the general genetic background of AS. Prospective studies addressing this cross-sectional observation may contribute to the development of new treatment strategies addressing mechanical load and may aid in decreasing the management costs of AS with the present biological therapies targeting new bone formation.</p>","PeriodicalId":23361,"journal":{"name":"Turkish Journal of Medical Sciences","volume":"54 6","pages":"1319-1326"},"PeriodicalIF":1.2,"publicationDate":"2024-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11673663/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142903624","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Evaluation of the update for screening for retinopathy of prematurity in a tertiary care center in Türkiye with retrospective cohorts. 评估<s:1>基耶一家三级保健中心对早产儿视网膜病变筛查的更新与回顾性队列。
IF 1.2 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-10-20 eCollection Date: 2024-01-01 DOI: 10.55730/1300-0144.5912
Emine Kaya Güner, Duygu Inci Bozbiyik

Background/aim: In Türkiye, the recommendations for screening for retinopathy of prematurity (ROP) were updated in 2021. We aimed to present detailed data on the infants included in the screening program according to the new criteria and evaluate whether these changes are of benefit in detecting severe ROP.

Materials and methods: Our hospital's medical records of infants screened for ROP between July 2019 and July 2021 or between August 2021 and August 2023 were retrospectively examined. Gestational age (GA), birth weight, the sex of the infant, whether there was multiple pregnancy, ROP examination results, the most advanced ROP level and time, and ROP treatment needs and times were recorded. Cohort data from these two time periods before and after the update were compared.

Results: Three hundred and fifty-seven infants screened before the updating of the guidelines and 336 infants screened after the update were included in the analysis. Between August 2021 and August 2023, more cases of ROP were detected (19.3% and 21.4% for the two cohorts, respectively), while a lower rate of treatment was required (3.9% and 2.1% for the cohorts, respectively). One of the infants treated after the update was included in the screening based on the new GA criterion. In both cohorts, no infant needed treatment before 32 weeks of postmenstrual age regardless of agreement with GA at birth.

Conclusion: In this study, one infant in need of treatment who was not included in the screening program according to the previous criteria was identified. The data we obtained support the necessity of increasing the upper limit for GA. Additionally, the 31st week seems safe for the beginning of examinations in extremely premature infants.

背景/目的:在 rkiye中,筛查早产儿视网膜病变(ROP)的建议于2021年更新。我们的目的是根据新标准提供包括在筛查计划中的婴儿的详细数据,并评估这些变化是否有利于检测严重的ROP。材料与方法:回顾性分析我院2019年7月至2021年7月、2021年8月至2023年8月筛查的ROP患儿病历。记录胎龄(GA)、出生体重、婴儿性别、是否有多胎妊娠、ROP检查结果、最晚期ROP水平及时间、ROP治疗需求及次数。更新前后这两个时间段的队列数据进行了比较。结果:在指南更新前筛查的357名婴儿和更新后筛查的336名婴儿被纳入分析。在2021年8月至2023年8月期间,检测到更多ROP病例(两个队列分别为19.3%和21.4%),而所需的治疗率较低(队列分别为3.9%和2.1%)。其中一名在更新后接受治疗的婴儿被纳入基于新的GA标准的筛查。在这两个队列中,没有婴儿在经后32周之前需要治疗,无论出生时是否同意GA。结论:在本研究中,发现了一名根据先前标准未纳入筛查计划的需要治疗的婴儿。得到的数据支持了提高遗传算法上限的必要性。此外,第31周对于极早产儿来说似乎是安全的。
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引用次数: 0
Rare STAT3 haplotypes cause a predisposition to developing congenital anomalies of the kidney and urinary tract disorder. 罕见的STAT3单倍型导致先天性肾脏异常和尿路疾病的易感性。
IF 1.2 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-10-20 eCollection Date: 2024-01-01 DOI: 10.55730/1300-0144.5911
Mert Polat, Feride İffet Şahin, Esra Baskin, Uğur Toprak, Kaan Savaş Gülleroğlu, Mehmet Haberal, Yunus Kasım Terzi

Background/aim: Congenital anomalies of the kidney and urinary tract (CAKUT) are characterized by renal developmental disorders in the embryonic period. STAT3 is a member of the STAT protein family. The members of this protein family play roles in various cellular mechanisms, such as the early stages of embryonic development, kidney development, and renal diseases. This study aims to determine the frequency of STAT3 rs1053004, rs744166, rs3816769, and rs4796793 polymorphisms in individuals with CAKUT.

Materials and methods: Two of four polymorphisms, rs744166 (c.-1-13666T>C, NM_001369512.1) and rs4796793 ( c.-1915C>G, NM_001369512.1), were analyzed by a polymerase chain reaction (PCR) and the restriction fragment length polymorphism method. Two other polymorphisms, rs1053004 (c.*1671C>T, NM_001369512.1) and rs3816769 (c.273+314A>G, NM_001369512.1), were analyzed using real-time PCR-melting curve analysis.

Results: Our research indicates that individuals with the TT allele for rs1053004 single nucleotide polymorphism have a 1.23 times greater disease risk than those with the CC allele. Those with the CC allele for rs3816769 have a 1.41 times greater risk of disease than those with the TT allele. These findings suggest a potential genetic predisposition to CAKUT. Furthermore, the research identified significant connections between rare haplotypes and CAKUT (p = 0.041). The CCTC haplotype for rs744166, rs4796793, rs1053004, and rs3816769 polymorphism was exclusively present in the CAKUT group, while the CGTT haplotype for the same polymorphisms was only detected in the control group.

Conclusion: The presence of rare haplotypes for the rs1053004, rs3816769, rs4796793, and rs744166 polymorphisms may significantly affect the onset or prevention of CAKUT. These findings could potentially have important clinical implications, providing a deeper understanding of the genetic basis of CAKUT and potentially influencing future diagnostic and treatment strategies.

背景/目的:先天性肾和尿路异常(先天性肾和尿路异常)以胚胎期肾脏发育障碍为特征。STAT3是STAT蛋白家族的一员。该蛋白家族的成员在各种细胞机制中发挥作用,如胚胎发育的早期阶段,肾脏发育和肾脏疾病。本研究旨在确定STAT3 rs1053004、rs744166、rs3816769和rs4796793多态性在CAKUT个体中的频率。材料与方法:采用聚合酶链反应(PCR)和限制性片段长度多态性方法对4个多态性中的2个rs744166 (C -1- 13666t >C, NM_001369512.1)和rs4796793 (C - 1915c >G, NM_001369512.1)进行分析。另外两个多态性rs1053004 (c.*1671C>T, NM_001369512.1)和rs3816769 (c.273+314A>G, NM_001369512.1)采用实时pcr -熔化曲线分析。结果:我们的研究表明,携带rs1053004单核苷酸多态性TT等位基因的个体比携带CC等位基因的个体患病风险高1.23倍。携带rs3816769 CC等位基因的人患病风险是携带TT等位基因的人的1.41倍。这些发现表明了潜在的遗传易感性。此外,该研究还发现了罕见单倍型与CAKUT之间的显著联系(p = 0.041)。rs744166、rs4796793、rs1053004和rs3816769多态性的CCTC单倍型仅在CAKUT组中存在,而相同多态性的CGTT单倍型仅在对照组中存在。结论:rs1053004、rs3816769、rs4796793、rs744166多态性罕见单倍型的存在可能显著影响CAKUT的发病或预防。这些发现可能具有重要的临床意义,提供对CAKUT遗传基础的更深入了解,并可能影响未来的诊断和治疗策略。
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引用次数: 0
Reliability and validity of the Turkish version of the Infant Motor Activity Log in infants with upper extremity functional asymmetry: how often and how well? 土耳其版婴儿运动活动日志在上肢功能不对称婴儿中的信度和效度:频率和效果如何?
IF 1.2 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-10-11 eCollection Date: 2024-01-01 DOI: 10.55730/1300-0144.5909
Kübra Seyhan Biyik, Cemil Özal, Kıvanç Delioğlu, Mintaze Kerem Günel

Background/aim: Functional asymmetry in the upper extremities may occur in infants with neuromotor problems due to neurodevelopmental or musculoskeletal disorders. The aim of this study was to investigate the validity and reliability of the Turkish version of the Infant Motor Activity Log (IMAL-T), which assesses the frequency (how often) and quality (how well) of the affected arm usage during activities in infants with functional asymmetry in the upper extremities.

Materials and methods: The IMAL-T was administered face-to-face to the parents of 102 infants [60 infants at high risk of developing cerebral palsy (CP) and 42 infants with brachial plexus birth injury (BPBI)], aged 6-24 months, with functional asymmetry in the upper extremities. One week later, the IMAL-T was administered again to 22 parents to determine the test-retest reliability. Cronbach's alpha and the intraclass correlation coefficient (ICC) were used to determine the internal consistency and test-retest reliability. Discriminant validity was assessed using the manual ability level (Mini Manual Ability Classification System) and the nerve injury type was evaluated using the independent samples t test. For concurrent validity, the relationship between the IMAL-T and the Pediatric Evaluation of Disability Inventory (PEDI) self-care was examined using Spearman's correlation coefficient.

Results: Internal consistency (Cronbach's alpha ≥ 0.91) and test-retest reliability (ICC ≥ 0.93) of the IMAL-T were adequate. The IMAL-T scores differed according to the mini-MACS and nerve injury type (p < 0.05). Moderate to strong (CP, r ≥ 0.706, p < 0.001; BPBI, r ≥ 0.579, p < 0.001) correlation coefficients were found between the IMAL-T and PEDI self-care scores.

Conclusion: The IMAL-T is a reliable and valid parent-reported outcome measure that indicates the frequency and quality of the affected arm use during age-appropriate real-life activity in infants aged 6-24 months with upper extremity functional asymmetry due to neuromotor problems. The IMAL-T can be used in early intervention to assess upper extremity functional asymmetry in Turkish infants.

背景/目的:由于神经发育或肌肉骨骼疾病而出现神经运动问题的婴儿可能出现上肢功能不对称。本研究的目的是调查土耳其版婴儿运动活动日志(IMAL-T)的有效性和可靠性,该日志评估上肢功能不对称的婴儿活动中受影响的手臂使用的频率(频率)和质量(质量)。材料与方法:对102例6-24月龄上肢功能不对称的婴儿(脑瘫高危儿60例,臂丛出生损伤儿42例)父母进行面授IMAL-T。一周后,再次对22名家长进行IMAL-T测试,以确定重测信度。采用Cronbach’s alpha和类内相关系数(intraclass correlation coefficient, ICC)确定内部一致性和重测信度。判别效度采用手工能力水平(Mini manual ability Classification System)评估,神经损伤类型采用独立样本t检验评估。对于并发效度,采用Spearman相关系数检验IMAL-T与儿童残疾量表自我护理的关系。结果:IMAL-T的内部一致性(Cronbach's alpha≥0.91)和重测信度(ICC≥0.93)是足够的。IMAL-T评分根据mini-MACS和神经损伤类型不同而有差异(p < 0.05)。中至强(CP, r≥0.706,p < 0.001;IMAL-T与PEDI自我护理评分之间存在BPBI (r≥0.579,p < 0.001)相关系数。结论:IMAL-T是一种可靠和有效的父母报告的结果测量方法,可以显示6-24个月因神经运动问题导致上肢功能不对称的婴儿在与年龄相适应的现实生活活动中受影响的手臂使用的频率和质量。IMAL-T可用于早期干预评估土耳其婴儿上肢功能不对称。
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引用次数: 0
Clinicopathological features for the prediction of immunosuppressive treatment responses in sarcoidosis-related kidney involvement: a single-center retrospective study. 预测结节病相关肾脏受累免疫抑制治疗反应的临床病理特征:一项单中心回顾性研究
IF 1.2 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-10-08 eCollection Date: 2024-01-01 DOI: 10.55730/1300-0144.5907
Ahmet Burak Dirim, Vafa Süleymanova, Özge Hürdoğan, Özgür Akın Oto, Ayşe Serra Artan, Savaş Öztürk, Yasemin Özlük, Işın Kiliçaslan, Halil Yazici

Background/aim: Sarcoidosis is a multisystem disorder that affects many organs, including the kidneys. This single-center retrospective study investigated the clinical, pathological, and laboratory findings of patients with kidney sarcoidosis who were treated with immunosuppressives.

Materials and methods: Twenty-three patients with biopsy-confirmed kidney sarcoidosis were included. Demographic, clinical, pathological, and laboratory findings, in addition to the treatments and outcomes of 20 patients with at least one month of follow-up were evaluated.

Results: The median age of the patients at the time of biopsy was 47 years (60.9% were female). The median baseline estimated glomerular filtration rate (eGFR) and proteinuria were 21.5 mL/min and 1 g/g or g/day, respectively. Nineteen of the 23 patients were diagnosed with nonglomerular disease (four had glomerular diseases). Extrarenal sarcoidosis was present in 86.7% of the patients. Granulomatous interstitial nephritis (56.5 %) and nephrosclerosis with intratubular calcific casts (17.4 %) were the two most common diagnoses. All the patients initially received 1 mg/kg/day steroids for kidney involvement. Although no statistical difference was observed in kidney function during the follow-up, steroids improved the eGFR in the first month compared with baseline in patients with nonglomerular diseases (p = 0.049). Eventually, 45% of the patients developed end-stage kidney disease, and 45% of cohort had a treatment response. Patients with higher baseline calcium levels (p = 0.03) and lower degrees of interstitial fibrosis/tubular atrophy (p = 0.043) had better kidney outcomes. Moreover, none of the patients with sarcoidosis-related secondary glomerular disease had a treatment response (p = 0.043).

Conclusions: Hypercalcemia and lower interstitial fibrosis and tubular atrophy rates might be associated with better outcomes in sarcoidosis-related kidney involvement under immunosuppressive treatment. Moreover, late diagnosis, irregular follow-up, and glomerular disorders could be poor prognostic factors.

背景/目的:结节病是一种多系统疾病,可影响包括肾脏在内的许多器官。这项单中心回顾性研究调查了接受免疫抑制剂治疗的肾结节病患者的临床、病理和实验室结果。材料与方法:选取23例经活检证实的肾结节病患者。对20例患者的人口统计学、临床、病理和实验室结果以及治疗和结果进行了至少一个月的随访评估。结果:活检时患者的中位年龄为47岁(60.9%为女性)。平均基线估计肾小球滤过率(eGFR)和蛋白尿分别为21.5 mL/min和1 g/g或g/day。23例患者中有19例被诊断为非肾小球疾病(4例有肾小球疾病)。86.7%的患者存在肾外结节病。肉芽肿性间质性肾炎(56.5%)和肾硬化合并小管内钙化铸型(17.4%)是两种最常见的诊断。所有患者最初接受1 mg/kg/天的类固醇治疗肾脏受累。虽然随访期间肾功能无统计学差异,但与基线相比,非肾小球疾病患者在第一个月类固醇可改善eGFR (p = 0.049)。最终,45%的患者发展为终末期肾病,45%的队列患者有治疗反应。基线钙水平较高(p = 0.03)和间质纤维化/小管萎缩程度较低(p = 0.043)的患者肾脏预后较好。此外,所有结节病相关继发性肾小球疾病患者均无治疗应答(p = 0.043)。结论:在免疫抑制治疗下,高钙血症和较低的间质纤维化和肾小管萎缩率可能与结节病相关肾脏受累的更好结果相关。此外,诊断晚、随访不规律和肾小球疾病可能是预后不良的因素。
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Turkish Journal of Medical Sciences
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