International Journal of Research in Medical Sciences最新文献

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Medication pattern and adherence to type II diabetes treatment at university hospital of Central India 印度中部大学医院的用药模式和 II 型糖尿病治疗的依从性
International Journal of Research in Medical Sciences Pub Date : 2023-11-29 DOI: 10.18203/2320-6012.ijrms20233695
C. Shamkuwar, Sushant H. Meshram, N. Kumari
{"title":"Medication pattern and adherence to type II diabetes treatment at university hospital of Central India","authors":"C. Shamkuwar, Sushant H. Meshram, N. Kumari","doi":"10.18203/2320-6012.ijrms20233695","DOIUrl":"https://doi.org/10.18203/2320-6012.ijrms20233695","url":null,"abstract":"Background: The estimated number of diabetics in India was 62.4 million in 2011 projected to rise 101.2 million by 2030. Rational medication pattern and adherence to treatment are key components of diabetes control. Study purpose is to evaluate medication pattern and assess adherence to treatment. Methods: Prospective, observational and questionnaire-based study. Medication pattern evaluated from prescriptions and adherence assessed with Morisky medication adherence scale. Result: Total 200 prescriptions were studied. 98 (49%) and 102 (51%) were male and female respectively. Majority were above 60 years of age. Co-morbid conditions were found in 175 (87%) patients with hypertension (72%), being more common. Patients were prescribed 1216 medications. The average number of drugs per prescription was 6.20. Oral hypoglycemic drugs were 22.69%. Commonly prescribed drugs were anti-hypertensive (15.70%), drugs for coronary artery disease (10.36%), antibiotics, NSAID, PPI, vitamins and minerals (31.99%). High, medium and low adherence were observed in 47%, 38% and 15% of patients. Males (61%) adherence more than females in high adherence group. Conclusions: This study demonstrates the variability of drug utilization in diabetics. More than fifty percent patient have medium and low adherence which affects control of diabetes. Factors leading to poor adherence should be studied for better control of diabetes.","PeriodicalId":505944,"journal":{"name":"International Journal of Research in Medical Sciences","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139212962","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Cecal volvulus, an uncommon cause of lower intestinal obstruction: case report and literature review 下肠梗阻的罕见病因--盲肠旋涡:病例报告和文献综述
International Journal of Research in Medical Sciences Pub Date : 2023-11-29 DOI: 10.18203/2320-6012.ijrms20233730
Blaz-Zavala Rogelio Agustin, Pinto-Juarez Karen Julissa, Valencia-González Milton, Ortiz-Vargas Astrid, Corona-Flores Yanetzy Elizabet
{"title":"Cecal volvulus, an uncommon cause of lower intestinal obstruction: case report and literature review","authors":"Blaz-Zavala Rogelio Agustin, Pinto-Juarez Karen Julissa, Valencia-González Milton, Ortiz-Vargas Astrid, Corona-Flores Yanetzy Elizabet","doi":"10.18203/2320-6012.ijrms20233730","DOIUrl":"https://doi.org/10.18203/2320-6012.ijrms20233730","url":null,"abstract":"A volvulus is defined as a loop of bowel that undergoes torsion and rotation about its axis and the supporting mesentery, resulting in manifestations of intestinal occlusion. Depending on the degree of intestinal distension, blood flow may be compromised with risk of ischemia and perforation. Cecal volvulus is caused by axial rotation of the cecum, involving the terminal ileum and ascending colon due to alterations in fixation of the cecum. We present a case report of a 32-year-old male patient with no important surgical history who presented with lower intestinal occlusion secondary to cecum volvulus associated with flanges.","PeriodicalId":505944,"journal":{"name":"International Journal of Research in Medical Sciences","volume":"18 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139213822","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Prevalence, practice, and determinants of self-medication among the common public in a village of Northern Kerala, India 印度喀拉拉邦北部一个村庄普通民众自我药疗的流行程度、做法和决定因素
International Journal of Research in Medical Sciences Pub Date : 2023-11-29 DOI: 10.18203/2320-6012.ijrms20233701
Narayanan Namboothiri G., Lamees K. C., Tamanna Latheef, Thasleema M. M., Thameem Muhammed N., Swathi R.
{"title":"Prevalence, practice, and determinants of self-medication among the common public in a village of Northern Kerala, India","authors":"Narayanan Namboothiri G., Lamees K. C., Tamanna Latheef, Thasleema M. M., Thameem Muhammed N., Swathi R.","doi":"10.18203/2320-6012.ijrms20233701","DOIUrl":"https://doi.org/10.18203/2320-6012.ijrms20233701","url":null,"abstract":"Background: Self-medication, managing health issues without professional guidance, poses significant risks to individuals and public health. Prevalence rates vary globally, often higher in low-income countries due to limited healthcare access. While self-medication offers cost-effective solutions for minor ailments, it may lead to misuse, adverse effects and financial burdens. Identifying factors driving self-medication is crucial for tailored interventions. This study aims to assess self-medication prevalence, practice, and influencing factors in a Kerala village. Methods: A community-based cross-sectional study included 212 participants (≥18 years) selected via convenient sampling. A pre-tested questionnaire collected socio-demographic data, self-medication prevalence, and influencing factors. Self-medication was defined as OTC drug use without consulting a medical graduate. Data were analyzed using SPSS 26, with chi-square tests for bivariate analysis (p≤0.05). Results: Participants (mean age: 38.13±15.56) reported 53.8% self-medication. Acute illness individuals self-medicated more (80.7% purchased from independent pharmacies). Time constraints (24.5%) and expired prescriptions (42.1%) drove self-medication. Medication choice was influenced by cost (54.3%), brand reputation (21.1%), and both (24.6%), with pharmacist recommendations (36.0%) playing a role. Self-medication was common among ages 41-60 (64.3%) and those with lower education levels (77.8% primary, 70.5% middle). Acute illness individuals self-medicated more (66%) than chronic cases (34%). Conclusions: This rural Kerala study identifies a 53.8% self-medication rate, affected by age, education, and healthcare preferences. Targeted interventions are needed for ethical self-medication and improved healthcare practices.","PeriodicalId":505944,"journal":{"name":"International Journal of Research in Medical Sciences","volume":"6 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139214605","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Named cells and inclusion bodies in bacterial and viral infections associated with oral cavity 与口腔有关的细菌和病毒感染中的命名细胞和包涵体
International Journal of Research in Medical Sciences Pub Date : 2023-11-29 DOI: 10.18203/2320-6012.ijrms20233742
M. S. M. Dhume, C. P. Dias
{"title":"Named cells and inclusion bodies in bacterial and viral infections associated with oral cavity","authors":"M. S. M. Dhume, C. P. Dias","doi":"10.18203/2320-6012.ijrms20233742","DOIUrl":"https://doi.org/10.18203/2320-6012.ijrms20233742","url":null,"abstract":"An oral pathologist can explore the world of intricate features in complicated tissues thanks to this visual speciality. Because our eyes are more accustomed to seeing normal morphology in cells and structures, we can become stuck in a state of flux when we encounter specific ill cells or bodies. Although they may appear to be deceiving, they aid the pathologist in making a diagnosis because they are pathognomonic for numerous diseases and conditions. With a focus on pathogenesis, microscopic features, and stains used to highlight features of the same, the current article is an attempt to compile various histopathological bodies seen in various diseases associated with bacterial and viral diseases associated with the oral cavity.","PeriodicalId":505944,"journal":{"name":"International Journal of Research in Medical Sciences","volume":"189 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139215087","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Evidence-based assessment of male-only infertility: prevalence and associated risk factors in Port Harcourt metropolis, Rivers State, Nigeria 基于证据的纯男性不育症评估:尼日利亚河流州哈科特港大都市的发病率和相关风险因素
International Journal of Research in Medical Sciences Pub Date : 2023-11-29 DOI: 10.18203/2320-6012.ijrms20233690
I. Elekima, Aminayanate M. Aworu, Holy Brown, Ngozi Brisibe, I. George-Opuda, H. A. Waribo, A. Ben-Chioma, E. Bartimaeus
{"title":"Evidence-based assessment of male-only infertility: prevalence and associated risk factors in Port Harcourt metropolis, Rivers State, Nigeria","authors":"I. Elekima, Aminayanate M. Aworu, Holy Brown, Ngozi Brisibe, I. George-Opuda, H. A. Waribo, A. Ben-Chioma, E. Bartimaeus","doi":"10.18203/2320-6012.ijrms20233690","DOIUrl":"https://doi.org/10.18203/2320-6012.ijrms20233690","url":null,"abstract":"Background: Male infertility is the condition in which a male is unable to establish pregnancy in a fertile woman over 12 months of unprotected sexual intercourse. In this study, the prevalence of male-factor infertility and some associated risk factors in Port Harcourt, Rivers State was carried out. Methods: The study design was a case-controlled randomized one, in which semen specimens were collected from case and control groups randomly amongst males visiting urology/fertility clinics by masturbation after 3 days of abstinence. A total of 276 males indicated interest to participate in study of which 193 male subjects were recruited. Results: The result showed that 20.8% were azoospermic, 27.4% were oligospermic, 23.7% were asthenozoospermic, 27.9% oligoasthenozoospermic, 15.1% teratozoospermic, 19.4% asthenoteratozoospermic, and 12.9% oligoasthenoteratospermic. Furthermore, the microbial quality of the semen assessed indicated the prevalence of scanty, moderate, and heavy growth as 12.5%, 9.3%, and 7.3% respectively. Likewise, organisms isolated and identified were Staphylococcus aureus, Escherichia coli, Klebsiella pneumoniae, and mixed growth of staphylococcus aureus, and Escherichia coli with a prevalence of 18.2%, 5.6%, 2.0%, 1.04%, and 2.6% respectively. Civil servants had the highest prevalence of 20.8% followed by artisans with 11.9%. The prevalence of primary and secondary infertility was observed to be 30.1% and 18.1% respectively. Conclusions: Male-only factor infertility is on the increase and occupations that are accompanied by prolonged sitting, sedentary work style, or working in or close to high-temperature sources as seen in civil servants and welders (artisans) were observed to be more prone to male-only factor infertility.","PeriodicalId":505944,"journal":{"name":"International Journal of Research in Medical Sciences","volume":"93 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139209143","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Pervasiveness of metabolic syndrome and cardiovascular disease in tribal/rural population of India: a review 印度部落/农村人口中代谢综合征和心血管疾病的普遍性:综述
International Journal of Research in Medical Sciences Pub Date : 2023-11-29 DOI: 10.18203/2320-6012.ijrms20233743
Aayushi Nagwanshi, T. Chakma, Shikha Nag, Kritika Singh, A. Kavishwar, Pranshi Verma, S. Shrivastava
{"title":"Pervasiveness of metabolic syndrome and cardiovascular disease in tribal/rural population of India: a review","authors":"Aayushi Nagwanshi, T. Chakma, Shikha Nag, Kritika Singh, A. Kavishwar, Pranshi Verma, S. Shrivastava","doi":"10.18203/2320-6012.ijrms20233743","DOIUrl":"https://doi.org/10.18203/2320-6012.ijrms20233743","url":null,"abstract":"Diseases classified as non-communicable diseases (NCDs) are those that are often caused by unhealthy behaviors rather than by infection or by contact with others. One of the main NCDs causing many fatalities is cardiovascular disease (CVD). Recent research has shown that the prevalence of metabolic syndrome (Mets) associated CVDs among tribal populations is increasing in rapid pace. In this review, we have included studies investigating the components of Mets and the relationships between Mets and CVDs. From the assessment of studies, we may predict a significant association between Mets and CVDs as a whole. Our evaluation of these studies revealed that carrying at least three Mets risk components, like hyperglycemia, obesity, dyslipidemia, and high blood pressure, significantly enhances the risk of CVDs. Undernutrition, smoking, and a low intake of fruits and vegetables in the Indian tribal population are the main risk factors for managing Mets associated CVDs. Furthermore, various studies have also shown that Mets may be influenced by genetic and environmental factors. Finally, healthy habits such as a balanced diet and frequent exercise should be introduced from a young age in individuals, to prevent Mets progression. In order to combat the Mets associated CVDs, functionally upgraded primary health centers and special IECs (Information, education and communication) programs may play a beneficial role. Furthermore, strengthening public healthcare systems and focusing on prevention, early identification, and treatment using medical and social interventions can be of immense help in managing the metabolic risk factors that can lead to CVDs.","PeriodicalId":505944,"journal":{"name":"International Journal of Research in Medical Sciences","volume":"34 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139209525","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Uterine arteriovenous malformations: a life threatening emergency in women 子宫动静脉畸形:危及妇女生命的急症
International Journal of Research in Medical Sciences Pub Date : 2023-11-29 DOI: 10.18203/2320-6012.ijrms20233721
Bullu Priya Oraon
{"title":"Uterine arteriovenous malformations: a life threatening emergency in women","authors":"Bullu Priya Oraon","doi":"10.18203/2320-6012.ijrms20233721","DOIUrl":"https://doi.org/10.18203/2320-6012.ijrms20233721","url":null,"abstract":"Arteriovenous malformation (AVM) refers to an anomalous, non-functional connection between uterine arteries and veins, potentially posing life-threatening risks due to profuse bleeding. AVM involves the growth of arterial and venous channels, fistula formation, and a combination of capillary-like vessels. This case series sheds light on our institution's experience in diagnosing and managing women with this rare gynecological condition. This retrospective study examined cases of uterine arteriovenous malformation in the Department of Obstetrics and Gynecology at RIMS, Ranchi. All three cases presented with heavy vaginal bleeding. One case had a history of medically induced abortion followed by suction and evacuation. Ultrasound color Doppler confirmed the diagnosis. One patient underwent uterine artery embolization using selective coil and foam agents, while two patients opted for hysterectomy. Two of the cases had a history of previous caesarean sections. Uterine AVM should be considered as a potential differential diagnosis in cases presenting with bleeding after abortion or curettage. The aim of reporting these cases is to highlight the common presentation of this condition and aid in its diagnosis and management.","PeriodicalId":505944,"journal":{"name":"International Journal of Research in Medical Sciences","volume":"10 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139210413","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Perceived sources of stress and anxiety among Senegalese dental students 塞内加尔牙科学生认为的压力和焦虑来源
International Journal of Research in Medical Sciences Pub Date : 2023-11-29 DOI: 10.18203/2320-6012.ijrms20233691
P. A. Lecor, Rokhaya Gadiaga, S. Dieng, Sankoung  Soumboundou
{"title":"Perceived sources of stress and anxiety among Senegalese dental students","authors":"P. A. Lecor, Rokhaya Gadiaga, S. Dieng, Sankoung  Soumboundou","doi":"10.18203/2320-6012.ijrms20233691","DOIUrl":"https://doi.org/10.18203/2320-6012.ijrms20233691","url":null,"abstract":"Background: Dental studies are stressful and anxiety-provoking. The aim of this study was to assess the stress and anxiety levels of dental students at Cheikh Anta Diop university in Dakar, Senegal. Methods: A descriptive cross-sectional study was conducted among 133 students. A general stress self-questionnaire (Perceived stress scale 14), another specific to dentistry studies and a final Spielberger anxiety questionnaire were distributed manually or electronically to students regularly enrolled in master’s 1 and 2 at the institute of odontology and stomatology of Cheikh Anta Diop university in Dakar. Results: A total of 121 students responded, giving a response rate of 90.97%. The average stress level was 20.8±1.08. Of these, 14 students (11.6%) had mild stress, 75.2% had moderate stress and 13.2% had high stress. The most commonly reported stress factors specific to dentistry studies were examinations and ongoing tests (67.7%), the pre-clinical transition to the clinic (70.3%), patient delays or missed appointments (83.5%), fear of making mistakes (67%, i.e., perforation, medical contraindications, etc.), the availability of equipment (70.3%), and conservative odontology and endodontics procedures (71.6%). Concerning anxiety, 113 students (93.4%) had a moderate level of anxiety and 2 students (1.6%) had a high level of anxiety. Conclusions: This study showed that stress and anxiety are frequently found among dental students. Intervention strategies based on raising awareness and promoting psychological well-being in the educational context should be adopted for these students.","PeriodicalId":505944,"journal":{"name":"International Journal of Research in Medical Sciences","volume":"51 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139213405","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Effect of manually assisted cough technique on cough strength in extubated patients with organophosphorus poisoning 人工辅助咳嗽技术对有机磷中毒拔管患者咳嗽强度的影响
International Journal of Research in Medical Sciences Pub Date : 2023-11-29 DOI: 10.18203/2320-6012.ijrms20233696
Bhagyasha Shamkant Nandre, Sambhaji. B. Gunjal
{"title":"Effect of manually assisted cough technique on cough strength in extubated patients with organophosphorus poisoning","authors":"Bhagyasha Shamkant Nandre, Sambhaji. B. Gunjal","doi":"10.18203/2320-6012.ijrms20233696","DOIUrl":"https://doi.org/10.18203/2320-6012.ijrms20233696","url":null,"abstract":"Background: Organophosphate (OP) ingestion is one of the most common emergencies treated at poisoning control centers worldwide. In an extubated patient with OPP, the abdomen and chest muscles are affected, it also affects a person's ability to breathe on their own, rendering them dependent on a ventilator. Intubation weakens the abdominal muscles and diaphragm making it difficult to cough and clear the chest. A manual cough-assisted technique is used to enhance the cough strength, to help with the clearance of secretions it can be carried out in lying, side-lying, or sitting positions. Objectives were to find the effect of a manually assisted cough (MAC) technique on cough strength (Peak cough flow (PCF) and maximum expiratory pressure) in extubated patients with organophosphorus poisoning.  Methods: According to the selection criteria, 50 participants extubated with organophosphorus poisoning were included. A baseline assessment was done of all individuals and MAC techniques were given. outcome measures were assessed with PCF meter and PEmax manometer. MAC techniques are given for 1 week to each patient. Results: Pre and post-intervention PCF and maximal expiratory pressure (MEP) was compared and analyzed with paired t tests and which shows an extremely significant difference with p<0.0001 which indicates significant improvement in cough strength after 1 week of MAC techniques. Conclusions: This study concluded that the MAC. Technique improved the cough strength (PCF and MEP) in extubated patients with organophosphorus poisoning.","PeriodicalId":505944,"journal":{"name":"International Journal of Research in Medical Sciences","volume":"24 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139214953","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
An unusual coalition of medullary nephrocalcinosis with a novel genotypic variant of Alport syndrome type-1 髓样肾钙化症与阿尔波特综合征 1 型新型基因型变异的不寻常合并症
International Journal of Research in Medical Sciences Pub Date : 2023-11-29 DOI: 10.18203/2320-6012.ijrms20233726
Poonam Pradhan, Aritra Kapat, Asok K. Mandal, Ashok K. Bala
{"title":"An unusual coalition of medullary nephrocalcinosis with a novel genotypic variant of Alport syndrome type-1","authors":"Poonam Pradhan, Aritra Kapat, Asok K. Mandal, Ashok K. Bala","doi":"10.18203/2320-6012.ijrms20233726","DOIUrl":"https://doi.org/10.18203/2320-6012.ijrms20233726","url":null,"abstract":"Alport’s syndrome is a type of inherited disorder of the basement membrane characterized by a spectrum of phenotypes ranging from progressive renal injury to varied extrarenal manifestations comprising auditory and ocular abnormalities. Here in, we present a 3-year-old child born out of nonconsanguineous marriage who presented with fever, intermittent microscopic haematuria, and recurrent gross haematuria, proteinuria with normal auditory brainstem response and ocular slit lamp examination findings. Renal biopsy yielded normal light microscopy and immunofluorescence study whereas minimal changes in the glomerular basement membrane (GBM) collagen were detected on electron microscopy, suggesting possibilities of Alport’s syndrome. Ultrasonographic renal imaging yielded the presence of bilateral medullary nephrocalcinosis. Angiotensin converting enzyme inhibitors along with angiotensin receptor blockers were used to curb the disease progression. A final clinical exome sequencing corroborated the phenotype with a diagnosis of Alport’s syndrome type-1 linked to a novel pathogenic variant c.1892dup (p.Gly632ArgfsTer2) showing hemizygous single base pair insertion/duplication in COL4A5 gene. To the best of our knowledge, this unusual association of Alport’s syndrome with medullary nephrocalcinosis has not been reported worldwide in any previous medical literature making this report a primi one.","PeriodicalId":505944,"journal":{"name":"International Journal of Research in Medical Sciences","volume":"12 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139215122","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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