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The diagnosis of Beckwith-Wiedemann syndrome in a child and psychological implications to parents – A case report 儿童贝克维斯-魏德曼综合征的诊断及其对家长的心理影响- 1例报告
Q4 Medicine Pub Date : 2023-03-31 DOI: 10.4314/rmj.v80i1.16
B. Tuyishimire, H. Irere, N. Dukuze, B. Iradukunda, C. Muhizi, A. Ndatinya, O. Karangwa, F. Rutagarama, C. Nsanzabaganwa, L. Mutesa
INTRODUCTION: While Beckwith-Wiedemann syndrome is among rare genomic imprinting disorders, its diagnosis still presents challenges in clinical settings. Therefore, the aim of this work is to present different phenotypic features of this syndrome. CASE PRESENTATION: We reviewed two-month-old patient referred to the genetic unit at Rwanda military hospital, Kigali, Rwanda. Physical examinations indicated severe larger birth length (macrosomia), Overgrowth of the right side of lower limbs (hemihypertrophy/hemihyperplasia), larger tongue (macroglossia) and bigger abdomen. We performed karyotype and revealed a normal male chromosomal formula: 46,XY. CONCLUSION: Based on the phenotypic clinical features, the patient was diagnosed with Beckwith-Wiedemann Syndrome. However, cytogenetic tests performed were not advanced and should not rule out epigenetic abnormalities that should account for phenotypic features of this syndrome in our patient.
简介:虽然Beckwith-Wiedemann综合征是一种罕见的基因组印迹疾病,但其诊断在临床环境中仍然存在挑战。因此,这项工作的目的是提出该综合征的不同表型特征。病例介绍:我们回顾了两个月大的病人转到卢旺达基加利卢旺达军事医院的遗传单位。体格检查显示严重的大出生(巨大儿),右侧下肢过度生长(半肥厚/半增生),较大的舌(大舌)和较大的腹部。我们进行了核型分析,发现一个正常的男性染色体公式:46,XY。结论:根据表型临床特征,诊断为贝克威氏综合征。然而,进行的细胞遗传学测试并不先进,不应排除表观遗传异常,这应该解释我们患者的这种综合征的表型特征。
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引用次数: 0
Ectopic and Mal-rotated kidney with bilateral hydronephrosis – Case report 肾异位及畸形旋转伴双侧肾积水1例
Q4 Medicine Pub Date : 2023-03-31 DOI: 10.4314/rmj.v80i1.9
A. Omodan, T. Ndayishimiye, E. Muhawenimana, J. Gashegu
INTRODUCTION: The term ectopic kidney is used to describe a kidney that is found in a place that is not its normal anatomic position while malrotation refers to the abnormal orientation of the kidney. These two are some of the congenital malformations that the kidney is predisposed to in its embryogenesis.CASE: The current findings were discovered during routine dissections in the Gross lab of the Human Anatomy Department of the University of RwandaA left ectopic kidney with a relatively larger than normal size (10.5cm × 5.2cm) was found with the main blood supply arising from the median sacral artery and two other accessory arterial supplies arising from the abdominal aorta. The kidney was mal-rotated, facing laterally, with the ureter on both sides dilated. CONCLUSION: Knowing kidney variations is ever more important with the rate of increase in renal transplantations and vascular surgeries
术语异位肾是用来描述肾脏在一个地方被发现不是其正常的解剖位置,而旋转不良是指肾脏的异常方向。这两种是肾脏在胚胎形成时易患的先天性畸形。病例:目前的发现是在卢旺达大学人体解剖系格罗斯实验室进行常规解剖时发现的,发现左异位肾大小相对大于正常(10.5cm × 5.2cm),主要血液供应来自骶骨正中动脉,另外两个副动脉供应来自腹主动脉。肾脏异常旋转,面朝外侧,两侧输尿管扩张。结论:随着肾移植和血管手术的增加,了解肾脏变异变得越来越重要
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引用次数: 0
Anterior jugular vein variations in two cadavers and clinical implications: A case report 两具尸体颈前静脉变异及其临床意义1例
Q4 Medicine Pub Date : 2023-03-31 DOI: 10.4314/rmj.v80i1.11
A. Omodan, E. Sindikubwabo, J. Gashegu
INTRODUCTION: Anterior jugular veins are a paired structure found on either side of the neck and are responsible for other veins in draining the head and neck regions.CASE: The variations reported here are from two male cadavers about 45 and 50 years of age who were being dissected routinely in the dissecting room. The first cadaver, which was the 50-year-old, had the normal formation of both anterior jugular veins (AVJ), but down in its course, the left and the AJVs join around the cricoid cartilage and continue down as a single vein running in the mid-line of the neck but ending by piercing deep to drain into the external jugular vein. The second cadaver was 45 years old. After forming the left AJV, the vein immediately crosses over to the right to run parallel to the right AJV before both joining to form a common vein and then piercing to drain in the external jugular vein (EJV).CONCLUSION: The knowledge of these variations has become very important for all health workers dealing with the neck surgically, radiologically or otherwise.
简介:颈前静脉是位于颈部两侧的成对结构,负责头部和颈部的其他静脉引流。病例:本文报道的变异来自两具年龄分别为45岁和50岁的男性尸体,他们在解剖室进行常规解剖。第一具尸体是50岁的尸体,两条颈前静脉(AVJ)都正常形成,但在其过程中,左侧和AJV在环状软骨周围连接,并作为一条在颈部中线延伸的单一静脉继续向下延伸,但最终穿透很深,流入颈外静脉。第二具尸体年龄为45岁。形成左侧AJV后,静脉立即向右交叉,与右侧AJV平行,然后连接形成共同静脉,然后穿刺引流到颈外静脉(EJV)。结论:了解这些变异对所有通过手术、放射学或其他方式处理颈部的卫生工作者来说都非常重要。
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引用次数: 0
Thyroid function post supraclavicular lymph node irradiation in patients with breast cancer 乳腺癌患者锁骨上淋巴结照射后甲状腺功能的影响
Q4 Medicine Pub Date : 2023-03-31 DOI: 10.4314/rmj.v80i1.5
F. Rubagumya, K. Makori, N. Dharsee, M. Tausi
INTRODUCTION: In East Africa, the estimated incidence of breast cancer is second only to cervical cancer. Supraclavicular irradiation post-modified mastectomy is crucial to breast cancer management, as it improves local control and overall survival. However, this is associated with adverse effects, including hypothyroidism (HT), which is usually under-reported. This study aim was to evaluate radiation-induced thyroid gland functional changes following treatment of supraclavicular lymph nodes in breast cancer patients.METHODS: This was a prospective descriptive study of patients with breast cancer from May 1, 2017, to May 30, 2018. Pre and post-treatment TSH, fT4, and fT3 values were compared using a Wilcoxon signed-rank test.RESULTS: A total of 42 patients were recruited for this study, with a mean age of 55.7 years (32-71). The mean baseline TSH level was 2.90 (±6.37), with a normal range of 0.27-4.2 uIU/mL. The mean T4 and T3 level were 15.77 (±4.83), with normal ranges of 10.16-22 pmol/l for T4, and 3.46 (±6.22), with a normal range of 1.06-3.3 nmol/l for T3. A Wilcoxon signed-rank test indicated that there was a statistically significant increase in mean TSH levels over baseline when measured at three, six-, and nine-months post-treatment, with p-values of 0.0047, 0.0002, and <0.0001, respectively. In total, four patients (10%) had thyroid function tests outside the normal ranges. Zero patients developed clinical HT during the time period studied.CONCLUSION: As hypothesized, supraclavicular radiation led to subclinical HT, but the incidence of clinical HT over time remains unknown.
简介:在东非,乳腺癌的估计发病率仅次于宫颈癌。改良乳房切除术后锁骨上照射对乳腺癌治疗至关重要,因为它可以改善局部控制和总体生存。然而,这与不良反应有关,包括甲状腺功能减退(HT),这通常被低估。本研究的目的是评估乳腺癌患者锁骨上淋巴结治疗后放射诱导的甲状腺功能变化。方法:这是一项前瞻性描述性研究,研究对象为2017年5月1日至2018年5月30日的乳腺癌患者。采用Wilcoxon符号秩检验比较治疗前后TSH、fT4和fT3值。结果:本研究共招募了42例患者,平均年龄为55.7岁(32-71岁)。平均基线TSH水平为2.90(±6.37),正常范围为0.27 ~ 4.2 uIU/mL。T4、T3均值为15.77(±4.83),正常范围为10.16 ~ 22 pmol/l; T3均值为3.46(±6.22),正常范围为1.06 ~ 3.3 nmol/l。Wilcoxon sign -rank检验表明,治疗后3个月、6个月和9个月的平均TSH水平比基线有统计学意义上的显著增加,p值分别为0.0047、0.0002和<0.0001。总共有4名患者(10%)进行了超出正常范围的甲状腺功能检查。在研究期间,没有患者出现临床HT。结论:正如假设的那样,锁骨上放射可导致亚临床HT,但临床HT随时间的发病率尚不清楚。
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引用次数: 0
Recurrent spontaneous abortion related to balanced translocation of chromosomes – A case report 与染色体平衡易位有关的复发性自然流产1例报告
Q4 Medicine Pub Date : 2023-03-31 DOI: 10.4314/rmj.v80i1.17
N. Dukuze, B. Tuyishimire, H. Irere, B. Iradukunda, J. Ndinkabandi, C. Nsanzabaganwa, J. Mushingantahe, L. Mutesa
INTRODUCTION: Recurrent spontaneous abortion (RSA) is defined as three or more consecutive pregnancy losses before the 20th week of gestation. RSA is often idiopathic, but structural chromosomal abnormality is an important cause. An unbalanced karyotype in the conceptus of a couple when one partner has a structural chromosomal abnormality may result in failure to implant, miscarriage, or pregnancy of a fetus with an unbalanced karyotype.CASE PRESENTATION: We report a rare case of RSA associated with balanced translocation of chromosomes. a woman who had four spontaneous abortions, all pregnancy loss happened before 12 weeks of gestation, no other known chronic diseases reported to the family nor medications taken during pregnancy. The karyotype was 46.XX, t(13p,21p) The abnormal karyotype was not found in any other chromosomes. Further spectral karyotyping was performed to rule out the involvement of any other chromosomal aberrations present in the genome.The cytogenetic analysis of the husband revealed a normal karyotype 46.XY.CONCLUSION: Couples with more than three miscarriages should be referred to the genetist for chromosomal analysis for possible hereditary etiology and chromosomal abnormalities responsible for miscarriages to plan prenatal diagnostics and genetic counseling for subsequent pregnancies.
复发性自然流产(RSA)定义为妊娠20周前连续三次或以上流产。RSA通常是特发性的,但染色体结构异常是重要的原因。在一对夫妇的概念中,当其中一方有染色体结构异常时,核型不平衡可能导致植入失败、流产或核型不平衡的胎儿怀孕。病例介绍:我们报告一个罕见的RSA与染色体平衡易位相关的病例。4次自然流产的妇女,所有流产发生在妊娠12周之前,未向家庭报告其他已知慢性疾病,也未在怀孕期间服用药物。核型为46。XX, t(13p,21p)其他染色体未见异常核型。进一步的光谱核型进行,以排除任何其他染色体畸变存在于基因组的参与。丈夫的细胞遗传学分析显示为正常核型46.XY。结论:三次以上流产的夫妇应咨询遗传学家进行染色体分析,了解可能导致流产的遗传病因和染色体异常,以便进行产前诊断和后续妊娠的遗传咨询。
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引用次数: 0
Aberrant brachial artery: case report of an anatomical variation 臂动脉异常:解剖变异1例报告
Q4 Medicine Pub Date : 2023-03-31 DOI: 10.4314/rmj.v80i1.7
C. Niyibigira, A. Omodan, S. Habumuremyi, G. Ndayegamiye, V. Archibong, J. Gashegu
INTRODUCTION: The brachial artery and its terminal branches are the major arterial supply to the brachium and antebrachium. Variations in the vascular supply in the upper limbs have been previously documented to occur more in the radial artery, followed by the ulnar artery, but less commonly in the brachial arteryCASE: An embalmed cadaver was used for gross dissection during the gross anatomy dissection for postgraduate students at the department of human anatomy of the University of Rwanda.During the dissection of the right upper arm, an accessory brachial artery was found, branching from the axillary artery above the unification of the lateral and medial cords of the brachial plexus (the lateral and medial root of the median nerve).CONCLUSION: In our case, the aberrant brachial artery originated from the axillary artery and gave off a muscular branch in the middle third of the arm, which is of clinical importance.
肱动脉及其末端分支是供应肱和前臂的主要动脉。上肢血管供应的变化以前有文献记载,主要发生在桡动脉,其次是尺动脉,但不常发生在肱动脉。案例:卢旺达大学人体解剖系研究生进行大体解剖时,使用了一具经过防腐剂处理的尸体进行大体解剖。在右上臂解剖时,发现一条臂丛副动脉,从臂丛外侧束和内侧束统一处(正中神经外侧根和内侧根)的腋窝动脉分支出来。结论:本病例异常肱动脉起源于腋窝动脉,并在臂中部三分之一处发出肌肉分支,具有重要的临床意义。
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引用次数: 0
Night Time Gadget Use and Quality of Sleep among Health Science Students in Bangalore, India 印度班加罗尔健康科学专业学生的夜间电子设备使用和睡眠质量
Q4 Medicine Pub Date : 2022-12-31 DOI: 10.4314/rmj.v79i4.2
P. Lis Thomas, R. Gurung, M. Mahalakshmi
INTRODUCTION: Electronic gadgets have become a necessity for modern life, and unstructured use of these devices can result in sleep disturbances among youth in the digital era. This study correlated patterns of nighttime electronic gadget use and quality of sleep among health science students.METHODS: Cross-sectional research study was conducted among 243 health science students of selected colleges in Bangalore. The subjects comprised students from pharmacy 79 (32.6%), physiotherapy 79 (32.6%) and nursing 84 (34.7%). A self-administered questionnaire was used to collect demographic information on nighttime electronic gadget use. Sleep quality was assessed using Pittsburgh Sleep Quality Index (PSQI). RESULTS: Watching movies (43.6%), communicating (36.1%) and academic use (20.3%) were the most reported purposes of nighttime gadget use among the students. 22.8 % of the participants were using the gadgets for 2-4 hours and 7.5 % of the students used them for more than 5 hours at night. Linear regression analysis revealed that the habit of checking one’s phone at night and staying up late at night had an impact on the daytime activity of students. Subjective sleep quality, sleep latency, sleep duration and sleep efficiency were significantly affected by nighttime gadget use.CONCLUSION: Unrestricted gadget use during nighttime can result in sleep-deprived individuals who may not be able to perform as efficiently. Effective measures should be initiated to structure the use of technologies.
简介:电子设备已成为现代生活的必需品,在数字时代,非结构化地使用这些设备可能会导致年轻人的睡眠障碍。这项研究将健康科学专业学生夜间使用电子设备的模式与睡眠质量联系起来。方法:对班加罗尔部分大学的243名健康科学专业学生进行横断面研究。受试者包括来自药学79名(32.6%)、物理治疗79名(31.6%)和护理84名(34.7%)的学生。使用自填问卷收集夜间电子设备使用的人口统计信息。睡眠质量采用匹兹堡睡眠质量指数(PSQI)进行评估。结果:在学生中,看电影(43.6%)、交流(36.1%)和学术使用(20.3%)是夜间小工具使用的主要目的。22.8%的参与者在夜间使用这些小工具2-4小时,7.5%的学生在夜间使用时间超过5小时。线性回归分析显示,晚上看手机和熬夜的习惯对学生白天的活动有影响。主观睡眠质量、睡眠潜伏期、睡眠持续时间和睡眠效率受夜间小工具使用的显著影响。结论:夜间不受限制地使用小工具会导致睡眠不足,可能无法有效发挥作用。应采取有效措施,安排技术的使用。
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引用次数: 0
Predictors of delayed consultation in undescended testis patients at a Rwandan referral hospital 卢旺达转诊医院隐性睾丸患者延迟会诊的预测因素
Q4 Medicine Pub Date : 2022-12-31 DOI: 10.4314/rmj.v79i4.8
A. Bonane, A. Nshimiyimana, I. Nzeyimana, A. Nyirimodoka, A. Muhawenimana, T. Hategekimana, J. Rickard
INTRODUCTION: Delayed management of undescended testes (UDT) is associated with an increased risk of malignancy and impaired fertility. To identify causes of delayed consultation of patients with UDT at a Rwandan referral hospitalMETHODS: This was a retrospective study of patients with delayed UDT presentations from 2012 to 2016. A delayed UDT presentation was defined as any patient presenting with UDT at >1 year of age. RESULTS: There were 44 cases of delayed UDT presentations. Most patients (n = 35, 79.5%) were born at a hospital; the rest (n = 9, 20.5%) were born at home. The patient’s parent with higher education in the family was considered. Most of the patients’ parents (n = 29, 65.9%) had a primary education, 6 (13.6%) had a secondary education (high school graduate), 1 (2.3%) had a university education, and 8 (18.2%) never went to school. The reported reasons for delays as they appear in the patient chart were 16 (36.4%) patients due to ignorance, 12 (27.3%) due to poor physical examination at birth, 7 (15.9%) due to poor guidance, 4 (9.0%) due to poverty and 5 (11.4%) due to long appointments. There were no overlapping reasons for delay reported. Patients born at home were more likely to identify ignorance as a reason for the delay (p = 0.007). Of the 16 patients who reported a delay due to ignorance, 12 of their parents had primary education, and 3 had no education. Most (n = 34, 77.3%) patients were fertile in adulthood, but 9 (20.4%) presented with infertility and 1 (2.3%) presented with testicular torsion. CONCLUSION: A number of reasons are responsible for delayed consultation in patients with UDT, including ignorance, poor physical examination, poor guidance, and poverty. Most of the causes are preventable. The urgent need for awareness of UDT and collaboration between physicians is paramount for early consult and management.
隐睾(UDT)的延迟处理与恶性肿瘤和生育能力受损的风险增加有关。为了确定卢旺达一家转诊医院UDT患者延迟就诊的原因。方法:这是一项对2012年至2016年UDT延迟就诊患者的回顾性研究。延迟UDT表现被定义为任何患者在10 - 11岁时出现UDT。结果:有44例UDT延迟表现。大多数患者(n = 35, 79.5%)出生在医院;其余(n = 9, 20.5%)在家中出生。考虑患者父母在家庭中受教育程度较高。大多数患者的父母(n = 29,占65.9%)受过初等教育,6人(13.6%)受过中等教育(高中毕业),1人(2.3%)受过大学教育,8人(18.2%)从未上过学。出现在患者病历上的延误原因为:无知16例(36.4%),出生时体检不佳12例(27.3%),指导不佳7例(15.9%),贫困4例(9.0%),预约时间过长5例(11.4%)。报告的延误原因没有重叠。在家中出生的患者更有可能将无知视为延迟的原因(p = 0.007)。在报告因无知而延迟就诊的16名患者中,12名患者的父母受过初等教育,3名患者的父母没有受过教育。大多数(n = 34, 77.3%)患者成年后可生育,但9例(20.4%)患者出现不孕,1例(2.3%)患者出现睾丸扭转。结论:UDT患者就诊延误的原因有很多,包括无知、体检不到位、指导不到位、贫困等。大多数原因是可以预防的。迫切需要意识到UDT和医生之间的合作是至关重要的早期咨询和管理。
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引用次数: 0
Ideal Male-Oriented Sexual and Reproductive Health Services Delivery: A Qualitative Study of Men and Healthcare Providers’ Perspective from Nigeria 理想的以男性为导向的性健康和生殖健康服务:尼日利亚男性和医疗保健提供者视角的定性研究
Q4 Medicine Pub Date : 2022-12-31 DOI: 10.4314/rmj.v79i4.6
O. Ogidan, A. Olowokere, A. Olajubu, O. Olatunya, O. Irinoye
INTRODUCTION: The global burden of Sexual and Reproductive Health (SRH) problems has remained a significant challenge to the wellbeing of men and limits the effectiveness of SRH interventions for females. This study explored men and healthcare providers’ perception of ideal male-oriented Sexual and Reproductive Health (SRH) services.METHODS: This was an exploratory qualitative study involving three focus group discussions among men in selected communities and eight interviews among healthcare service providers in Ekiti State, Nigeria. Focus Group Discussion (FGD) and Key Informant Interview (KII) guides were used to collect qualitative data from twenty-six men and eight healthcare service providers, respectively. Participants for the study were selected from three different units of the selected hospital and twelve communities. Data were sorted, transcribed, and analyzed using Atlas ti software. Inductive-deductive thematic analysis was performed.RESULTS: Three main themes emerged from the study: (a) ideal men-oriented SRH service provision within a unit specially made and named after men, (b) 24-hour daily SRH clinic and (c) locating SRH Clinic in the healthcare institutions with outlets in the communities and schools. The participants identified primary needs as SRH organs assessments; screening services; family planning services; and education and counselling on prevention and treatment of male SRH problems.CONCLUSION: Men have SRH service preferences that focused on preventive and therapeutic sexual and reproductive health needs that are desired to be male-oriented, dedicated and provided in health facilities with public outlets.
导言:性健康和生殖健康(SRH)问题的全球负担仍然是对男性福祉的重大挑战,并限制了女性性健康和生殖健康干预措施的有效性。本研究探讨男性和医疗保健提供者对理想的男性性与生殖健康(SRH)服务的看法。方法:这是一项探索性质的研究,涉及尼日利亚埃基蒂州选定社区男性的三次焦点小组讨论和八次医疗保健服务提供者访谈。使用焦点小组讨论(FGD)和关键信息访谈(KII)指南分别从26名男性和8名医疗保健服务提供者收集定性数据。该研究的参与者是从选定医院的三个不同单位和十二个社区中选出的。使用Atlas ti软件对数据进行整理、转录和分析。进行归纳演绎主题分析。结果:研究产生了三个主要主题:(a)在专门以男性命名的单位内提供理想的男性性健康和生殖健康服务;(b)每天24小时的性健康和生殖健康诊所;(c)将性健康和生殖健康诊所设在在社区和学校设有网点的医疗机构中。参与者将主要需求确定为性健康和生殖健康器官评估;检查服务;计划生育服务;以及关于预防和治疗男性性健康和生殖健康问题的教育和咨询。结论:男性的性健康和生殖健康服务偏好侧重于预防性和治疗性健康和生殖健康需求,这些需求希望在有公共网点的卫生机构中以男性为导向、专门和提供。
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引用次数: 1
Correlation Between Prematurity and The Onset of Neonatal Sepsis: A Cross-Sectional Study in NICU of a Tertiary Hospital in East Java, Indonesia 早产与新生儿脓毒症发病的相关性:印度尼西亚东爪哇一家三级医院NICU的横断面研究
Q4 Medicine Pub Date : 2022-12-31 DOI: 10.4314/rmj.v79i4.3
K. Nurrosyida, N. Annisa Harum, M. Tri Utomo
INTRODUCTION: The incidence of neonatal sepsis in developing countries is still high, reaching 170 out of 1000 births. An increased premature birth rate has become the leading cause of death in children under five years old. Studies examining the correlation between prematurity and neonatal sepsis onset have not been widely reported. Therefore, we assessed the correlation between gestational age and the onset of sepsis in neonatal patients.METHODS: Hospital-based cross-sectional study was performed on all neonates diagnosed with neonatal sepsis in the NICU of a tertiary referral hospital in East Java between 1 January 2019 – 31 December 2019. Logistic regression was used to analyze the obtained data. P-value <0.05 was considered statistically significant. RESULTS: Of the 241 patients identified with neonatal sepsis at Dr. Soetomo General Hospital in 2019, we found that 161 patients met the inclusion criteria, with most patients being early-onset sepsis patients (67.7%), low birth weight (75.8%), premature (65.2%), singleton deliveries (92.5%), and cesarean section births (65.2%). Statistical analysis showed a non-significant correlation between prematurity and the onset of neonatal sepsis (p>0.05).CONCLUSION: Although preterm birth is often reported as one of the most important risk factors of neonatal sepsis, prematurity does not appear to be an independent risk factor of neonatal sepsis onset
在发展中国家,新生儿败血症的发病率仍然很高,达到每1000个新生儿中有170个。早产率上升已成为五岁以下儿童死亡的主要原因。早产儿与新生儿脓毒症发病之间的相关性研究尚未得到广泛报道。因此,我们评估了胎龄与新生儿脓毒症发病的相关性。方法:对2019年1月1日至2019年12月31日东爪哇一家三级转诊医院NICU诊断为新生儿败血症的所有新生儿进行基于医院的横断面研究。采用Logistic回归对所得数据进行分析。假定值0.05)。结论:虽然早产经常被报道为新生儿脓毒症最重要的危险因素之一,但早产似乎并不是新生儿脓毒症发病的独立危险因素
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引用次数: 0
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Rwanda Medical Journal
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