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Clinical And Genetic Study of The Sptlc1 Gene Mutation in Patients With Heridetary Sensory Neuropahty Type 1 1型生殖器感觉神经病变患者Sptlc1基因突变的临床和遗传学研究
Q4 Medicine Pub Date : 2020-11-23 DOI: 10.31436/IMJM.V8I1.767
Mourad H, F. W., El Batch M
ABSRACT Introduction: Hereditary sensory neuropathy type 1 (HSN1) is the most common hereditary disorder of peripheral sensory neurons. Materials and methods: This study was carried out on 15 patients with hereditary sensory neuropathy type-1 and 10 healthy individuals as a control group. Detailed family history and thorough clinical and neurological examination were performed to all patients. Nerve conduction velocity of ulnar and lateral popliteal nerves (motor and sensory) as well as audiograms was carried out for all members of the studied groups. The laboratory study included the determination of serum C-reactive protein (CRP) and serum nucleasomes as well as molecular detection of the serine palmitoytransferase (SPTLC-1) gene mutations for all studied groups. Results: There was predominance in male who developed more sever clinical manifestations than females. The disease onset was in the second and third decades of life. Patients with HSN 1 manifested reduced conduction velocity in both motor and sensory fibers of the lateral popliteal nerve (p< 0.01) however the ulnar nerve was spared (p = 0.61). Audiometry revealed bilateral partial nerve deafness in 3 cases and complete deafness in one case. Serum CRP and nucleosomes were significantly elevated in all patients as compared to the control group (p < 0.01). The genetic study revealed mutations of the SPTLC1 in all studied patients compared to the control group. Point mutation C133W was observed in younger patients having severe clinical manifestations with prominent leg ulceration, while the point mutation C133Y was observed in the older patients complaining of hearing loss. The mutation V144D was found in patients with mild clinical presentation having minimal ulceration and no hearing abnormalities. Conclusion: The SPTLC1 gene mutations play an important role in the pathogenesis and variability in clinical presentation of HSN1 disease.
ABSRACT简介:遗传性感觉神经病1型(HSN1)是最常见的外周感觉神经元遗传性疾病。材料和方法:本研究对15例1型遗传性感觉神经病患者和10名健康人作为对照组进行。对所有患者进行了详细的家族史和彻底的临床和神经系统检查。对研究组的所有成员进行尺侧和腘外侧神经(运动和感觉)的神经传导速度以及听力图。实验室研究包括测定所有研究组的血清C反应蛋白(CRP)和血清核酸小体,以及丝氨酸棕榈酰转移酶(SPTLC-1)基因突变的分子检测。结果:男性临床表现较女性严重,占优势。疾病的发病时间是在生命的第二和第三十年。HSN1患者腘外侧神经的运动纤维和感觉纤维的传导速度均降低(p<0.01),尺神经除外(p=0.61)。听力测定显示双侧部分神经性耳聋3例,完全性耳聋1例。与对照组相比,所有患者的血清CRP和核小体均显著升高(p<0.01)。遗传研究显示,与对照组比较,所有研究患者的SPTLC1均发生突变。点突变C133W在具有严重腿部溃疡的严重临床表现的年轻患者中观察到,而点突变C133 Y在抱怨听力损失的老年患者中观察。突变V144D是在临床表现轻微、溃疡轻微且无听力异常的患者中发现的。结论:SPTLC1基因突变在HSN1疾病的发病机制和临床表现的变异性中起着重要作用。
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引用次数: 0
Benign calcified thyroglossal duct cyst, - defying the hallmark of papillary carcinoma, 4th case reported in literature 良性钙化甲状舌管囊肿,不符合乳头状癌的特征,文献报道第4例
Q4 Medicine Pub Date : 2020-11-23 DOI: 10.31436/IMJM.V16I2.338
Aleev Sn, Lye Mh, Loo Cp, Marina Mb
Thyroglossal duct cyst is the most common upper neck midline lesion in children. Approximately 1% of thyroglossal duct cyst undergoes malignant transformation. Calcification which is a marker of malignancy almost always points out to papillary thyroid carcinoma. Benign case of calcified thyroglossal cyst maybe undiagnosed or under reported. We report a case of a 5 year old girl with a benign calcified thyroglossal duct cyst, a fourth case in world literature. Here the differences between a benign and malignant thyroglossal duct cyst are discussed.
甲状腺舌管囊肿是儿童最常见的上颈部中线病变。大约1%的甲状舌管囊肿发生恶性转化。钙化是恶性肿瘤的标志,几乎总是指向甲状腺乳头状癌。钙化甲状舌管囊肿的良性病例可能未被诊断或报道不足。我们报告了一例5岁女孩的良性钙化甲状舌管囊肿,这是世界文献中的第四例。本文讨论了良性和恶性甲状舌管囊肿的区别。
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引用次数: 0
Smoker Desaturation during General Anaesthesia: A Case Report 全麻期间吸烟者去饱和:1例报告
Q4 Medicine Pub Date : 2020-11-23 DOI: 10.31436/IMJM.V8I1.774
Abdul Hadi Mohamed, A. Ralib, N. Abdullah, Ariff Osman, M. Nor
We report a sudden hypoxaemia during intubation and after extubation in patient was smoking few hour before surgery. The cause of his desaturation was not related to secretion in the upper airway but may be due to reduced oxygen tension in the body prior to surgery. We able to secure the airway and prevent prolonged of desaturation by intubating this patient during induction and after extubation. We excluded other cause of desaturation for example secretion, bronchospasm and also airway obstruction inn this case. We conclude that smoking cessation was necessary at long as possible even though in case of emergency to prevent potential hypoxaemia pre intubation and during extubation at the end of operation.
我们报告一例突发性低氧血症患者在插管期间和拔管后,在手术前几小时吸烟。他的去饱和的原因与上呼吸道的分泌无关,但可能是由于术前体内氧张力降低所致。我们能够确保气道和防止延长的去饱和通过插管患者在诱导和拔管后。在这个病例中,我们排除了其他原因如分泌物、支气管痉挛和气道阻塞。我们的结论是,即使在紧急情况下,戒烟也是必要的,以防止插管前和手术结束拔管时潜在的低氧血症。
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引用次数: 1
Bilateral congenital renal arteriovenous malformation: A rare entity with uncommon presentation. 双侧先天性肾动静脉畸形:一个罕见的实体,不寻常的表现。
Q4 Medicine Pub Date : 2020-11-23 DOI: 10.31436/IMJM.V8I1.773
H. Radhiana, A. MohdShafie, Mohd Ariff Ma
ABSTRACT Renal arteriovenous malformation (AVM) is a rare congenital anomaly of the urinary system. We present a patient with bilateral renal AVMs who presented with back pain and microscopic hematuria. This case highlights the importance of careful diagnostic work-up in the evaluation of upper tract hematuria. KEY WORDS: Renal AVM, Transarterial Embolization, Hematuria.
肾动静脉畸形(AVM)是一种罕见的泌尿系统先天性异常。我们报告了一位双侧肾动静脉畸形患者,其表现为背部疼痛和显微镜下血尿。本病例强调了在评估上尿路血尿时仔细的诊断检查的重要性。关键词:肾动静脉畸形,经动脉栓塞,血尿。
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引用次数: 0
Breastfeeding practices among slum mothers: a multivariate statistical analysis 贫民窟母亲的母乳喂养实践:多变量统计分析
Q4 Medicine Pub Date : 2020-11-23 DOI: 10.31436/IMJM.V8I1.765
Rafiqul I, Mahfuzar R, Mosfequr R, N. Im
ABSTRACT Introduction: The aim of this study was to determine the differential patterns of mean duration of breastfeeding among mothers from slum areas in Rajshahi City, Bangladesh by using the multiple classification analysis (MCA). Materials and Methods: The data for this study was collected from mothers from slum areas of 8 different slums of Rajshahi City Corporation who had had at least one child at the time of interview. Results: We showed that the overall mean duration of breastfeeding was 24.66 months for all women, which may show considerable impact on fertility around slum areas in near future. Conclusion: Of all the selected variables in MCA, it was seen that the current age of the children and the body mass index of the respondents appear as the strongest important determinants of duration of breastfeeding and other variables play relatively less important role on the duration of breastfeeding. KEY WORDS: Breastfeeding, Slum mothers, Body mass index (BMI) and Multiple Classification Analysis (MCA).
摘要简介:本研究的目的是通过多元分类分析(MCA)确定孟加拉国拉杰沙希市贫民窟母亲平均母乳喂养时间的差异模式。材料和方法:本研究的数据收集自Rajshahi City Corporation 8个不同贫民窟的母亲,她们在接受采访时至少有一个孩子。结果:我们发现,所有妇女的总体平均母乳喂养时间为24.66个月,这可能在不久的将来对贫民窟地区的生育率产生相当大的影响。结论:在MCA的所有选定变量中,可以看出,儿童的当前年龄和受访者的体重指数似乎是母乳喂养持续时间的最重要决定因素,而其他变量对母乳喂养持续期的影响相对较小。关键词:母乳喂养,贫民窟的母亲,体重指数(BMI)和多分类分析(MCA)。
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引用次数: 0
KNOWLEDGE, ATTITUDE AND PRACTICE OF BREAST SELF EXAMINATION IN FEMALE HEALTH WORKERS IN OLABISI ONABANJO UNIVERSITY TEACHING HOSPITAL, SAGAMU, NIGERIA 尼日利亚萨加穆奥拉比斯奥纳班乔大学教学医院女性卫生工作者乳房自我检查的知识、态度和做法
Q4 Medicine Pub Date : 2020-11-23 DOI: 10.31436/IMJM.V8I1.762
Aoj Agboola, A. Deji-Agboola, K. Oritogun, A. Musa, T. Oyebadejo, B. Ayoade
ABSTRACT Background:Breast cancer is the leading cause of cancer mortality in women worldwide. This study was designed to assess the knowledge, attitude and practice of breast self examination (BSE) among female health workers in Sagamu. Methods: Questionnaire was used to obtain information such as demographic characteristics, knowledge of breast cancer, attitudes towards BSE and questions relating to practices of BSE from female health workers. Statistical analysis was carried out using descriptive statistics and Chi Square method. Results: The medical doctors had more knowledge about breast cancer than the nurses and laboratory scientists. The medical doctors (81.8%), laboratory scientists (56.5%) and the nurses (41.4%) knew the correct timing and frequency for performance of BSE. The monthly practice of BSE was very low among the nurses (30%), while only 68.2% of the doctors and 78.3% of laboratory scientist admitted carrying out BSE monthly. The doctors (68.2%), nurses (35.7%) and laboratory scientist (30.4%) started BSE below the age of 19 years. Conclusion: The results indicate that the nurses had poor attitude towards BSE and this affected their practice of BSE though they had knowledge. The finding that some of the female health workers did not practice BSE, suggests that there is a need for continuing education programs to change attitude and behaviour towards BSE. KEY WORDS: Breast Self Examination, Nurses, Doctors.
背景:乳腺癌是全球女性癌症死亡的主要原因。本研究旨在评估相模县女性卫生工作者乳房自我检查(BSE)的知识、态度和行为。方法:采用问卷调查的方法,了解女性卫生工作者的人口统计学特征、乳腺癌知识、对疯牛病的态度和有关疯牛病做法的问题。采用描述性统计和卡方法进行统计分析。结果:内科医生对乳腺癌的了解程度高于护士和化验员。医生(81.8%)、实验室科学家(56.5%)和护士(41.4%)对疯牛病表现的正确时间和频率有所了解。护士每月患疯牛病的比例很低(30%),而医生和实验室科学家每月患疯牛病的比例分别为68.2%和78.3%。其中,医生(68.2%)、护士(35.7%)和实验室科学家(30.4%)发病年龄在19岁以下。结论:结果表明,护士对疯牛病的态度较差,虽有相关知识,但影响了护士对疯牛病的认识。一些女性卫生工作者没有接触过疯牛病,这一发现表明有必要开展继续教育项目来改变对疯牛病的态度和行为。关键词:乳房自检,护士,医生。
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引用次数: 13
Maternal death and isolated left ventricular non-compaction cardiomyopathy 产妇死亡和孤立性左室非压实性心肌病
Q4 Medicine Pub Date : 2020-11-23 DOI: 10.31436/IMJM.V16I2.340
R. Rahimi, M. Shahidan, K. Thanikasalam
Left ventricular non-compaction cardiomyopathy (LVNC) is a rare congenital cardiomyopathy, which is characterized by hypertrabeculations and deep recesses of the left ventricle. A patient could be asymptomatic or presented with common manifestations, including reduced systolic function, arrhythmia, thromboembolic events and heart failure. The rarity of the condition as well as lack of proper assessment has probably led to this condition to be largely underdiagnosed or unrecognized. A 23-year-old lady had collapsed at home thirty one days after delivering her first child. She had a history of goitre diagnosed a year ago and noted to be fairly well throughout the pregnancy. Post mortem findings showed increased trabeculations of the left ventricle. Further history was obtained after the procedure, revealing symptoms such as syncopal attacks and bilateral lower limb weakness dated back as far as five years prior to her sudden demise. These features were in keeping with hypotension hypoperfusion effects resulted from reduced systolic function and decreased ejection fraction, as a result of left ventricular dysfunction. While LVNC remains a rare type of disease, we would like to highlight the importance of a good anamnesis. It may help to uncover some uncommon pathology such as this heart disease, thus warranting an appropriate cardiac imaging to be engaged to clinch the primary diagnosis.
摘要左心室非压实性心肌病(LVNC)是一种罕见的先天性心肌病,其特征是左心室的超小窝和深凹。患者可能无症状或有常见表现,包括收缩功能降低、心律失常、血栓栓塞事件和心力衰竭。这种情况的罕见性以及缺乏适当的评估可能导致这种情况在很大程度上未被诊断或未被认识。一位23岁的女士在生完第一个孩子31天后在家中昏倒。她在一年前被诊断出甲状腺肿,并在整个怀孕期间表现良好。尸检结果显示左心室小梁增加。手术后获得了进一步的病史,显示晕厥发作和双侧下肢无力等症状可追溯到她突然死亡前5年。这些特征与左心室功能障碍导致的收缩功能降低和射血分数降低所导致的低血压低灌注效应一致。虽然LVNC仍然是一种罕见的疾病,但我们想强调良好记忆的重要性。它可能有助于发现一些罕见的病理,如这种心脏疾病,从而保证适当的心脏成像,以确定初步诊断。
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引用次数: 0
Knowledge, attitude and practice on breastfeeding in Klang, Malaysia 马来西亚巴生有关母乳喂养的知识、态度和做法
Q4 Medicine Pub Date : 2020-11-23 DOI: 10.31436/IMJM.V8I1.764
Tan Kl
ABSTRACT Introduction: In Klang, a district in the state of Selangor in Peninsular Malaysia, the effects of westernization and urbanization in recent years have had an impact on infant feeding. The objective of this study was to evaluate the practice, knowledge and attitude to breastfeeding and to assess factors associated with breastfeeding among women in Klang, Malaysia. Materials & Methods: A cross-sectional study was carried out between June and October 2006 involving 220 women with infants aged six months from two randomly selected health clinics were selected and interviewed. Data on socio-demographic, infant factors, infant feeding in the first six months of life, knowledge and attitude towards breastfeeding were collected. Results: Exclusive breastfeeding was reported by 32.8%, mixed feeding was reported by 14.5% and infant formula feeding was reported by 52.7% of the respondents. Chinese women were more likely not to practice exclusive breastfeeding compared to Malay women (odds ratio 18.27, 95% CI: 3.95 , 84.54) while working women were more likely not to practice exclusive breastfeeding compared to non working women (odds ratio 3.75, 95% CI: 1.64 , 8.55). Positive association with not exclusive breastfeeding included women with high household income and women with male infants. Malaysian women had a positive attitude but work place and short maternity leave had a negative impact on breastfeeding. Conclusion: Women of Chinese ethnicity, working, from high family income and with male infants were less likely to exclusively breastfeed. Adopting facilitatory measures at hospitals and work place could increase the rate of exclusive breastfeeding. KEYWORDS: Exclusive breastfeeding, KAP, Malaysia
摘要简介:巴生是马来西亚半岛雪兰莪州的一个地区,近年来西化和城市化的影响对婴儿喂养产生了影响。本研究的目的是评估母乳喂养的实践、知识和态度,并评估马来西亚巴生妇女中与母乳喂养相关的因素。材料与方法:在2006年6月至10月期间进行了一项横断面研究,随机选择了两个卫生诊所的220名带6个月婴儿的妇女进行了访谈。收集了有关社会人口统计、婴儿因素、婴儿出生后头六个月的喂养、对母乳喂养的知识和态度等方面的数据。结果:纯母乳喂养占32.8%,混合喂养占14.5%,婴儿配方奶粉喂养占52.7%。与马来妇女相比,华人妇女更有可能不实行纯母乳喂养(优势比18.27,95% CI: 3.95, 84.54),而与非职业妇女相比,职业妇女更有可能不实行纯母乳喂养(优势比3.75,95% CI: 1.64, 8.55)。与非纯母乳喂养呈正相关的包括家庭收入高的妇女和有男婴的妇女。马来西亚妇女有积极的态度,但工作地点和短暂的产假对母乳喂养产生了负面影响。结论:有工作、家庭收入高、有男婴的华裔妇女纯母乳喂养的可能性较低。在医院和工作场所采取便利措施可提高纯母乳喂养率。关键词:纯母乳喂养,KAP,马来西亚
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引用次数: 6
Chemotherapy Related Optic Neuritis 化疗相关的视神经炎
Q4 Medicine Pub Date : 2020-11-23 DOI: 10.31436/IMJM.V16I2.342
Nurutdinov As, Jemaima Ch, F. Ismail, Safinaz Mk
In children, most cases of optic neuritis are immune-related. Less frequently, it may also be due to demyelinating disorders. Other secondary causes such as infection of adjacent structures or infiltration are even rarer. The occurrence of optic neuritis in children on chemotherapy also has not being extensively reported. We report a case of bilateral optic neuritis in a young girl with subacute visual loss after receiving systemic chemotherapy for embryonal ovarian carcinoma.
在儿童中,大多数视神经炎病例与免疫有关。不太常见,也可能是由于脱髓鞘疾病。其他次要原因,如相邻结构的感染或渗透,甚至更为罕见。在接受化疗的儿童中发生视神经炎的情况也没有得到广泛报道。我们报告一例胚胎性卵巢癌接受全身化疗后出现亚急性视力丧失的年轻女孩双侧视神经炎。
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引用次数: 0
C1 and C2 vertebrae osteomyelitis: a misleading presentation leading to a fatal outcome C1和C2椎骨骨髓炎:导致致命结果的误导性表现
Q4 Medicine Pub Date : 2020-11-23 DOI: 10.31436/IMJM.V8I1.772
H. Radhiana, J. WinMarSalmah
ABSTRACT Cervical vertebral osteomyelitis is rare. While an early and correct diagnosis is critical to prevent catastrophic neurological injury, the diagnosis of cervical vertebral osteomyelitis is often difficult because of its rarity and variable symptoms. We present a case of C1 and C2 vertebrae osteomyelitis with a misleading presentation and its fatal outcome. KEYWORDS: Cervical spine, osteomyelitis, spinal infection
摘要颈椎骨髓炎是罕见的。虽然早期和正确的诊断对于预防灾难性的神经损伤至关重要,但颈椎骨髓炎的诊断往往很困难,因为其罕见且症状多变。我们报告了一例C1和C2椎骨骨髓炎,其表现具有误导性及其致命后果。关键词:颈椎,骨髓炎,脊柱感染
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引用次数: 3
期刊
International Medical Journal Malaysia
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