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A rare case of the complex phenotype of hereditary spastic paraparesis due to a mutation in a novel gene variant 罕见的复杂表型的遗传性痉挛性截瘫由于突变在一个新的基因变异
Pub Date : 2022-07-01 DOI: 10.4103/jcrsm.jcrsm_52_22
B. Antonieo Raja, S. Abirami, P. Jose, Peter Prasanth Kumar Kommu
Hereditary spastic paraplegia (HSP), is a heterogeneous group of corticospinal tract disorders leading to progressive lower limb weakness and spasticity. Recessive mutations in DDHD2 characteristically involve early onset delay in motor and cognitive milestones coupled with spasticity. The complex nature of HSP is always confounding for appropriate management. An 11-year-old boy was brought by his parents for developmental delay noticed from 7 months of age and was diagnosed to have possible spastic cerebral palsy initially. Due to increasing spasticity, he underwent tendon release surgery for achilles and iliopsoas at 4 years of age. Now, he presented to us with increasing stiffness in his lower limbs even after regular physical therapy and myoclonic jerks. He had severe spasticity in the lower limbs with a power of 4/5. His activities of daily living were restricted due to severe spasticity. The lower limb deep tendon reflexes are exaggerated with positive Babinski sign and Scissoring of gait. He also had a mild intellectual disability. He was started on symptomatic management with muscle relaxants. Clinical exome sequencing showed a novel homozygous nonsense variation in exon 6 of DDHD2 gene. Prenatal genetic counseling was given for the next pregnancy and hence chorionic villus sampling for the variant testing of the developing fetus was done. The reports revealed a heterozygous state and asymptomatic carrier, unlikely to be affected by DDHD2-associated phenotype (spastic paraplegia genes 54). HSP should be considered when there is global developmental delay and increasing spasticity in lower limbs despite rehabilitation therapies.
遗传性痉挛性截瘫(HSP)是一种异质性的皮质脊髓束疾病,可导致进行性下肢无力和痉挛。DDHD2的隐性突变通常涉及运动和认知里程碑的早期发作延迟,并伴有痉挛。HSP的复杂性总是使适当的管理变得混乱。一名11岁的男孩在7个月大时被父母发现发育迟缓,最初被诊断为可能患有痉挛性脑瘫。由于痉挛加剧,他在4岁时接受了跟腱和髂腰肌的肌腱释放手术。现在,他告诉我们即使在常规的物理治疗和肌阵挛抽搐之后他的下肢也越来越僵硬。他的下肢严重痉挛,强度是4/5。由于严重的痉挛,他的日常生活活动受到限制。下肢深腱反射明显增强,表现为巴宾斯基征阳性,步态呈剪型。他还有轻微的智力缺陷。他开始用肌肉松弛剂治疗症状。临床外显子组测序显示,DDHD2基因外显子6出现新的纯合无义变异。为下次怀孕提供产前遗传咨询,因此对发育中的胎儿进行绒毛膜绒毛取样进行变异检测。报告揭示了杂合状态和无症状携带者,不太可能受到ddhd2相关表型(痉挛性截瘫基因54)的影响。当存在整体发育迟缓和下肢痉挛增加时,尽管进行了康复治疗,但应考虑HSP。
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引用次数: 0
Acute flaccid paralysis in an infant 婴儿的急性弛缓性麻痹
Pub Date : 2022-07-01 DOI: 10.4103/jcrsm.jcrsm_87_21
Antonieo Raja Balraj, R. Bhowmick, A. Kasinathan, Peter Prasanth Kumar Kommu
The incidence rate of acute flaccid myelitis (AFM) in India was 12/100,000 people, whereas it is 0.71/million in the United States. The incidence of nonpolio AFM has increased over the years.[1] We present a young infant with a 3-day fever followed by irritability and paucity of movements of the left lower limb for 24 hours. The initial laboratory evaluation was negative for bacterial meningitis. However, a polymerase chain reaction was used to detect enterovirus ribonucleic acid in cerebrospinal fluid. The patient's condition improved as a result of supportive care. This case shows a serious nonpolio enteroviral central nerve infection that presents as acute flaccid paralysis.
急性弛缓性脊髓炎(AFM)在印度的发病率为12/10万人,而在美国为0.71/ 100万人。近年来,非脊髓灰质炎AFM的发病率有所增加。[1]我们提出一个年轻的婴儿与3天的发烧,随后烦躁不安和缺乏运动的左下肢24小时。最初的实验室检查结果为细菌性脑膜炎阴性。然而,采用聚合酶链反应检测脑脊液中肠病毒核糖核酸。由于支持性护理,病人的病情有所改善。本病例表现为严重的非脊髓灰质炎肠病毒中枢神经感染,表现为急性弛缓性麻痹。
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引用次数: 0
A study on the pathogenic microbes and antibiotic-sensitivity patterns in urinary tract infection among diabetes patients at a tertiary care hospital in Central Kerala 喀拉拉邦中部某三级医院糖尿病患者尿路感染病原菌及抗生素敏感性研究
Pub Date : 2022-07-01 DOI: 10.4103/jcrsm.jcrsm_15_22
Tribeni Goswami, Mathew S. Krishnamurthy, S. Varghese
Background: Diabetes mellitus (DM) has become a global disease that is affecting millions of people, and currently, India has about 50 million patients. Urinary tract infections (UTIs) have long been recognized as a significant problem in patients with DM. This study aimed to find out the pathogenic microorganisms and antibiotic sensitivity patterns for UTI in diabetes patients. Methodology: This was a cross-sectional study conducted in the Department of Microbiology at a tertiary care hospital. The duration of the study was for 10 months. Diabetic status was confirmed as per the recommended diagnostic criteria. The identification of the bacterial isolates and antimicrobial sensitivity was carried out by conventional or Vitek-2 compact system. Data were entered in Microsoft Excel and were analyzed using the SPSS version 20. Variables were represented by the frequency and percentage analysis. Results: There were 59 positive urine cultures in diabetes patients from January 2021 to October 2021, and the highest number of patients belong to the >70 years' age group. Escherichia coli was the predominant organism isolated and was most sensitive to carbapenems. Conclusions: In our study, the elderly female population were found to be the most vulnerable group. The highest sensitivity was observed in carbapenem which can be used for empirical treatment in admitted patients.
背景:糖尿病(DM)已成为影响数百万人的全球性疾病,目前印度约有5000万患者。尿路感染(UTI)一直被认为是糖尿病患者的一个重要问题,本研究旨在了解糖尿病患者尿路感染的病原微生物和抗生素敏感性模式。方法:这是一项横断面研究,在三级护理医院微生物科进行。研究时间为10个月。按照推荐的诊断标准确诊为糖尿病。采用常规或Vitek-2紧凑系统进行分离菌鉴定及药敏试验。数据在Microsoft Excel中输入,并使用SPSS version 20进行分析。变量用频率和百分比分析表示。结果:2021年1月至2021年10月,糖尿病患者尿培养阳性59例,其中70岁以上患者最多。大肠杆菌是分离的优势菌,对碳青霉烯类最敏感。结论:在我们的研究中,老年女性人群是最脆弱的群体。碳青霉烯敏感性最高,可用于住院患者的经验性治疗。
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引用次数: 0
Assessment of breeding sites and seroprevalence of dengue in an urban area of Puducherry – A community-based study 普杜切里市区登革热孳生地点和血清流行率评估——一项基于社区的研究
Pub Date : 2022-07-01 DOI: 10.4103/jcrsm.jcrsm_55_22
A. Velavan, Shashikala, P. Anitha, P. Stalin, R. Kumar, A. Purty
Background: Dengue virus infection is an important global public health issue. India is one of the high-burden countries with the resurgence of dengue in recent years. Surveillance based on hospital data can be misleading. Seroprevalence studies in the community are extremely useful in measuring the extent of transmission. This community-based study was done to identify the breeding sites of the Aedes mosquito and measure the seroprevalence of dengue infection in an urban area of Puducherry. Methodology: A cross-sectional study was done for 6 months in an urban area of Puducherry to assess the breeding sites for dengue and to find the serological prevalence of dengue. House-to-house visits were done in the study area to collect details on sociodemographic data, environmental data, and breeding sites for dengue. Blood samples were obtained from all willing participants aged 9 years and above to detect specific immunoglobulin G antibodies to dengue virus by enzyme-linked immunosorbent assay. Results: The seroprevalence of dengue infection was found to be 8.3%. Flower vase with water 72 (18%), animal water container 32 (8%), roof gutter/sunshades, 25 (6.3%), and open water storage tanks 18 (4.5%) were the most commonly prevalent breeding sites in the study area. The houses with potential breeding sites, such as roof gutters and sunshades, were significantly associated with the prevalence of dengue seropositivity among the study participants. Conclusion: The seroprevalence was found to be relatively low in the study area and the potential breeding sites for dengue were identified.
背景:登革热病毒感染是一个重要的全球公共卫生问题。印度是近年来登革热卷土重来的高负担国家之一。基于医院数据的监测可能会产生误导。社区的血清流行率研究对测量传播程度非常有用。这项以社区为基础的研究旨在确定伊蚊的孳生地点,并测量普杜切里市区登革热感染的血清流行率。方法:在普杜切里市区进行了为期6个月的横断面研究,以评估登革热的滋生地点,并发现登革热的血清学流行情况。在研究地区进行了挨家挨户的访问,以收集有关社会人口数据、环境数据和登革热滋生地点的详细信息。对所有年龄在9岁及以上的自愿参与者采集血样,用酶联免疫吸附法检测登革热病毒特异性免疫球蛋白G抗体。结果:登革热血清感染率为8.3%。花瓶盛水72种(18%)、动物盛水容器32种(8%)、屋顶阴沟/遮阳篷25种(6.3%)和开放式储水罐18种(4.5%)是研究区最常见的繁殖场所。具有潜在滋生场所的房屋,如屋顶排水沟和遮阳篷,与研究参与者中登革热血清阳性的流行率显著相关。结论:研究区登革热血清阳性率较低,已确定登革热的潜在孳生点。
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引用次数: 0
Comparison of forearm muscle fatigue among apparently healthy young adults with and without diabetogenic genes 具有和不具有糖尿病基因的明显健康年轻人前臂肌肉疲劳的比较
Pub Date : 2022-07-01 DOI: 10.4103/jcrsm.jcrsm_67_22
Leander Pradeep, U. Jyothish, R. Fernando, K. Ravichandran, Subhasis Das
Background: Diabetes is primarily a genetic disorder. Whether the forearm muscle fatigue, handgrip strength (HGS), and phase angle difference between young adults with diabetic genes and their counterparts are not known. We designed a cross-sectional study to compare these variables among young healthy adults with diabetic parents in one group and nondiabetic parents in the other. Methodology: Forearm muscle fatigue, HGS, and phase angle were measured in 60 young healthy adults aged 18 to 23 years with body mass index between 18 and 23.4. Among them, 30 had at least one parent who had been a diabetic for more than 3 years and the other thirty had nondiabetic parents (both parents having fasting blood sugar <100 mg/dl). Results: The continuous variables between the groups, which were normally distributed, were analyzed using the independent sample t-test. Data that were nonnormally distributed were analyzed using the Mann–Whitney U test. Forearm muscle fatigue of young adults with diabetic parents increased significantly compared to their counterparts (P = 0.005). HGS was greater among adults with nondiabetic parents compared to adults with diabetic parents, although this was not statistically significant. Phase angle did not show any significant difference between the two groups. Conclusion: A simple noninvasive measurement like forearm muscle fatigue is found to be increased among young healthy adults with diabetogenic genes when compared to their counterparts without diabetogenic genes. Prospective studies need to be performed to show increased muscle fatigue as a predictor of future incidence of diabetes.
背景:糖尿病主要是一种遗传性疾病。是否前臂肌肉疲劳,握力(HGS),以及相位角差异的年轻人糖尿病基因和他们的同行尚不清楚。我们设计了一项横断面研究来比较父母患有糖尿病和父母没有患糖尿病的年轻健康成年人的这些变量。方法:对60名年龄在18 ~ 23岁、身体质量指数在18 ~ 23.4之间的健康青年进行前臂肌肉疲劳、HGS和相位角测量。其中30人的父母中至少有一方患有糖尿病超过3年,另外30人的父母没有患糖尿病(父母双方的空腹血糖都<100 mg/dl)。结果:组间连续变量均为正态分布,采用独立样本t检验。非正态分布的数据采用Mann-Whitney U检验进行分析。父母患有糖尿病的青少年前臂肌肉疲劳明显增加(P = 0.005)。与父母患有糖尿病的成年人相比,父母非糖尿病的成年人的HGS更大,尽管这没有统计学意义。两组的相位角无明显差异。结论:一项简单的无创测量,如前臂肌肉疲劳,发现与没有糖尿病基因的年轻人相比,携带糖尿病基因的健康年轻人的前臂肌肉疲劳增加。需要进行前瞻性研究,以证明肌肉疲劳增加是未来糖尿病发病率的预测因素。
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引用次数: 0
The role of lipid profile as an early indicator of preeclampsia 血脂作为子痫前期早期指标的作用
Pub Date : 2022-07-01 DOI: 10.4103/jcrsm.jcrsm_35_22
J. Gupta, Monica Soni, Harsha Charaya, A. Nayak
Background: Preeclampsia is called the “disease of theories” because its direct cause is still debated. Among all maternal deaths worldwide, 19% of deaths are due to hypertension during pregnancy (World Health Organization 2014). Early diagnosis and management remain the cornerstone in the management of preeclampsia. Estimation of serum lipid profile early in pregnancy could help to identify high-risk cases prone to preeclampsia, thereby reducing morbidity and mortality associated with preeclampsia. The study aimed to determine the role of serum lipid profile in the early prediction of preeclampsia. Methodology: This was a hospital-based prospective study done among pregnant women with a period of gestation of 20 ± 1 week enrolled after screening for inclusion and exclusion criteria and informed consent and institutional ethical committee approval, samples for lipid profile were taken. Patients were divided into two groups (100 each) based on lipid profile – Group A: normal lipid profile and Group B: abnormal lipid profile. Both groups were followed and closely observed for the development of hypertension, albuminuria, and signs and symptoms of preeclampsia. Data were collected and systematically analyzed. Results: In Group A, eight participants developed preeclampsia, whereas in Group B, 27 participants developed preeclampsia during the study period. The difference was found statistically significant (P = 0.003). Conclusion: In our study, it was observed that dyslipidemia in pregnancy is positively associated with an increased risk of preeclampsia.
背景:先兆子痫被称为“理论之病”,因为其直接原因仍有争议。在全世界孕产妇死亡总数中,19%的死亡是由于怀孕期间的高血压(世界卫生组织,2014年)。早期诊断和管理仍然是子痫前期管理的基石。妊娠早期的血脂评估有助于识别易发生子痫前期的高危病例,从而降低与子痫前期相关的发病率和死亡率。该研究旨在确定血脂在子痫前期早期预测中的作用。方法:这是一项以医院为基础的前瞻性研究,在筛选纳入和排除标准、知情同意和机构伦理委员会批准后,入组妊娠期为20±1周的孕妇,采集血脂样本。将患者按血脂分为两组,每组100例,A组为正常血脂组,B组为异常血脂组。对两组患者进行随访,密切观察高血压、蛋白尿、子痫前期症状和体征的发展情况。收集数据并系统分析。结果:A组有8名受试者出现子痫前期,而B组在研究期间有27名受试者出现子痫前期。差异有统计学意义(P = 0.003)。结论:在我们的研究中,我们观察到妊娠期血脂异常与子痫前期风险增加呈正相关。
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引用次数: 0
The prognostic role of inflammatory markers in COVID-19 patients: A retrospective analysis in a tertiary care hospital of southern India 炎症标志物在COVID-19患者中的预后作用:印度南部一家三级医院的回顾性分析
Pub Date : 2022-07-01 DOI: 10.4103/jcrsm.jcrsm_4_22
Shivkumar Gopalakrishnan, Babu Krishnan, Malini Krishnan, S. Kandasamy, Peer Sahul Hameed, Velmurugan Karunakaran
Background: Approximately 5% of COVID-19 patients suffer from near-fatal disease. Clinical and radiologic features may predict severe disease although with limited specificity and radiation hazard. Laboratory biomarkers are specific, simple, and point-of-care triage tools that can be used to predict the severity of the disease. This research aimed to study the role of inflammatory markers (serum ferritin, lactate dehydrogenase [LDH], D-dimer, and C-reactive protein [CRP]) in prognosticating COVID-19 patients. Methodology: This was a hospital-based retrospective study conducted on COVID-19 adult inpatients classified into three groups: mild disease-recovered (Group I), severe disease-recovered (Group II), and dead (Group III). Categorical outcomes were compared using the Chi-square test. Univariate binary logistic regression analysis was performed to test the association between the outcome and explanatory variables. An unadjusted odds ratio (OR) along with a 95% confidence interval was calculated. The utility of laboratory parameters (ferritin, LDH, neutrophil/lymphocyte ratio, D-dimer, and platelet/lymphocyte ratio) in predicting the severity of COVID-19 was assessed by the receiver operative curve analysis. P < 0.05 was considered statistically significant. Results: A total of 500 case records were analyzed. The mean age was 49.32 ± 17.1 years. About 72.4% were <60 years and 301 male and 199 female patients were included. The comorbidity count included diabetes 168 (33.6%), hypertension 122 (24.4%), coronary artery disease 23 (4.6%), hypothyroidism 3 (6%), and others 33 (6.6%) The median levels of ferritin among the three groups differed significantly bearing higher levels in Group 3 (P < 0.001). Median LDH and D-dimer values of the three groups showed statistical significance (P < 0.001). Qualitative CRP was significantly associated with poor outcomes (P < 0.001). The odds of patients suffering severe COVID-19 rose with rising values of ferritin, LDH, and D-dimer (unadjusted OR: 1.007, 1.004, and 1.020). Conclusion: Onetime measurement of serum ferritin, LDH, D-dimer, and CRP performed between 7th and 10th day of symptoms significantly predicted outcomes for COVID-19 inpatients.
背景:大约5%的COVID-19患者患有近乎致命的疾病。临床和放射学特征可以预测严重的疾病,但特异性和放射危害有限。实验室生物标志物是特定的、简单的、即时的分诊工具,可用于预测疾病的严重程度。本研究旨在研究炎症标志物(血清铁蛋白、乳酸脱氢酶(LDH)、d -二聚体和c反应蛋白(CRP))在COVID-19患者预后中的作用。方法:采用基于医院的回顾性研究方法,将新冠肺炎住院成人患者分为轻病痊愈组(I组)、重病痊愈组(II组)和死亡组(III组),分类结果采用卡方检验进行比较。采用单变量二元逻辑回归分析检验结果与解释变量之间的相关性。计算未调整的优势比(OR)和95%置信区间。通过患者手术曲线分析评估实验室参数(铁蛋白、乳酸脱氢酶、中性粒细胞/淋巴细胞比值、d -二聚体和血小板/淋巴细胞比值)预测COVID-19严重程度的效用。P < 0.05为差异有统计学意义。结果:共分析500例病例。平均年龄49.32±17.1岁。年龄<60岁的占72.4%,其中男性301例,女性199例。共患糖尿病168例(33.6%),高血压122例(24.4%),冠心病23例(4.6%),甲状腺功能减退3例(6%),其他33例(6.6%)。三组间铁蛋白中位水平差异显著,其中第3组铁蛋白中位水平较高(P < 0.001)。三组LDH、d -二聚体中位值比较,差异均有统计学意义(P < 0.001)。定性CRP与不良预后显著相关(P < 0.001)。随着铁蛋白、LDH和d -二聚体的升高,患者患严重COVID-19的几率上升(未经调整的OR: 1.007、1.004和1.020)。结论:在症状出现后第7天至第10天一次性检测血清铁蛋白、LDH、d -二聚体和CRP可显著预测COVID-19住院患者的预后。
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引用次数: 0
Thulium laser ablation for ureteritis cystica 铥激光消融治疗囊性输尿管炎
Pub Date : 2022-07-01 DOI: 10.4103/jcrsm.jcrsm_5_22
Sanjay Kolte, M. Kolte, V. Bhargava, S. Bhuyar
Patients with ureteral obstruction often present a diagnostic dilemma on imaging techniques. Ureteritis cystica (UC) is one benign condition which can occasionally be a cause of ureteric obstruction and almost always eludes diagnosis unless ureteroscopic examination is performed. Although no definitive operative technique has been defined for its cure in the literature, ureteroscopic laser ablation is an effective minimally invasive option. We hereby present a short case report of thulium laser ablation in an elderly female with UC in the left upper ureter.
输尿管梗阻患者通常在影像学诊断上面临困境。囊性输尿管炎(UC)是一种良性疾病,偶尔会引起输尿管梗阻,除非进行输尿管镜检查,否则几乎总是难以诊断。虽然在文献中没有明确的治疗方法,输尿管镜激光消融是一种有效的微创选择。我们在此提出一个简短的案例报告,铥激光消融在左上输尿管老年女性UC。
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引用次数: 0
Audit of antibiotics usage in an intensive care unit of a tertiary care hospital in South India 对南印度一家三级医院重症监护病房抗生素使用情况的审计
Pub Date : 2022-07-01 DOI: 10.4103/jcrsm.jcrsm_47_22
R. Rajendran, S. Seralathan
Background: Antibiotics are one of the major medications used in the intensive care unit (ICU). It is a matter of concern as inappropriate usage of antibiotics in the ICU has led to the development of many infections due to multidrug-resistant (MDR) organisms. The aim was to monitor and assess the empirical antibiotic treatment initiated and the changes made in antimicrobial therapy following the culture report. Methodology: The study was conducted from May 2018 to June 2018 after obtaining ethical clearance from the institute ethics committee which was a cross-sectional prospective type of study. One hundred patients who were on antibiotics were included in the study. A total of 249 culture samples were sent which included blood, urine, endotracheal aspirate, sputum, cerebrospinal fluid, wound swab, etc., The patients were started empirically with antibiotics ceftriaxone, imipenem, meropenem, amikacin, azithromycin, etc., The microorganisms grown in the culture were Escherichia coli, Acinetobacter species, Staphylococcus aureus, Pseudomonas aeruginosa, etc. Results: It was observed that for 54 patients, the empirical antibiotic treatment was continued, for 39 patients, there was a change in antibiotics following the culture report, and for Seven patients, the antibiotics were stopped. Among 39 patients, for 23 patients, there was an escalation, and for 16 patients, there was a de-escalation in the usage of antibiotics from the initial empirical treatment given. Conclusion: A proper prescription pattern and a standard antibiotic policy for prescribing antibiotics are needed to prevent the future development of MDR strains.
背景:抗生素是重症监护病房(ICU)使用的主要药物之一。这是一个值得关注的问题,因为在ICU不适当使用抗生素已经导致许多感染的发展,由于多药耐药(MDR)的有机体。目的是监测和评估在培养报告后开始的经验性抗生素治疗和抗菌治疗的变化。方法:本研究在获得研究所伦理委员会的伦理许可后,于2018年5月至2018年6月进行,这是一项横断面前瞻性研究。100名服用抗生素的患者参与了这项研究。共送培养标本249份,包括血液、尿液、气管内吸出液、痰液、脑脊液、创面拭子等,患者经验性开始使用头孢曲松、亚胺培南、美罗培南、阿米卡星、阿奇霉素等抗生素,培养中培养的微生物有大肠杆菌、不动杆菌、金黄色葡萄球菌、铜绿假单胞菌等。结果:54例患者继续使用经验性抗生素治疗,39例患者在培养报告后抗生素发生变化,7例患者停用抗生素。在39例患者中,有23例患者的抗生素使用与最初的经验性治疗相比有所增加,有16例患者的抗生素使用有所减少。结论:合理的处方模式和规范的用药政策是预防耐多药菌株未来发展的必要措施。
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引用次数: 1
Monkeypox: Is the current outbreak tip of an iceberg? 猴痘:当前的疫情是冰山一角吗?
Pub Date : 2022-07-01 DOI: 10.4103/jcrsm.jcrsm_68_22
R. Kanungo
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引用次数: 0
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Journal of Current Research in Scientific Medicine
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