scholarly journals A study of Mutation in ATP7B gene and its correlation with clinical phenotype and radiological features in Wilson Disease patients

2021 ◽  
Author(s):  
Jasodhara Chaudhuri ◽  
Samar Biswas ◽  
Goutam Gangopadhyay ◽  
Tamoghna Biswas ◽  
Jyotishka Datta ◽  
...  
Keyword(s):  
Wilson Disease ◽  
Phenotypic Diversity ◽  
Tertiary Care ◽  
Clinical Manifestations ◽  
Supervised Machine Learning ◽  
Care Hospital ◽  
Atp7b Gene ◽  
Eastern India ◽  
Radiological Features ◽  
The Mean

AbstractIntroductionWilson Disease (WD) is an autosomal recessive disease caused by mutations in the ATP7B gene. Clinical manifestations of WD are variable. Identification of prevalent mutations in a given population is necessary to provide mutation-based molecular diagnosis. Previous studies have detected common mutations in this part of the world and our study aimed to correlate genotype with clinical and radiological features.MethodsA descriptive cross-sectional observational study was conducted over a period of two years in a tertiary care hospital and neurology referral unit of Kolkata, India. All WD patients within the study period and meeting the inclusion criteria were included. Demographic data collection, clinical examination and relevant laboratory investigations were done. Magnetic resonance imaging of brain and cognitive assessment by Mini Mental Score Exam (MMSE) were also performed. Blood was collected for genetic analyses. PCR-Sanger sequencing of exons 2,4,6,8,10,14,16,18 of ATP7B gene was done based on previous reports of mutation hotspots of ATP7B gene for WD in Eastern India. Genotype phenotype correlation was attempted using two supervised machine learning methods, viz. logistic regression with an elastic-net penalty and the random forest.ResultsOf 52 WD patients were included in the study, 57.7% were males. The mean age at diagnosis was 13.96 years. Majority (61.8%) of the patients had dystonia on presentation, followed by dysarthria (41.2%), tremor (17.6%) and ataxia (11.8%). The mean MMSE and Frontal Assessment Battery score were 23.74 and 10.63 respectively and both were lower than the normal baseline values.Out of the total cohort of 52 patients,15(28.8%) harbored previously reported common mutations from this part of the country. Of the 15, 12 had the same mutation of c.813C>A(p.cys271Ter).The presence of common mutationswas associated with several distinct clinical phenotypes in the mathematical models but larger sample sizes are needed to corroborate the correlation.ConclusionsWD patients in eastern India have significant genotypic and phenotypic diversity. Further studies with larger samples and screening of remaining exons are warranted.

scholarly journals Clinical Spectrum and Neuroimaging Changes in Neurodegenerative Disorder-Experiences in Tertiary Care Hospital of Bangladesh

2021 ◽  
Vol 2 (6) ◽  
pp. 10-14
Author(s):  
Gopen Kumar Kundu ◽  
Rumana Islam ◽  
Noor E-Sabah ◽  
ABM Mukib
Keyword(s):  
Neurodegenerative Diseases ◽  
Tertiary Care Hospital ◽  
Neurodegenerative Disorder ◽  
Tertiary Care ◽  
Clinical Manifestations ◽  
Care Hospital ◽  
Female Ratio ◽  
History Of ◽  
The Mean ◽  
Male To Female

Neurodegenerative diseases (NDD) are a heterogeneous group of disorders characterized by progressive loss of previously acquired skills that are of varied etiology, clinical manifestations, and natural course. There is a paucity of data on clinical profile of neurodegenerative diseases in our population. We conducted a retrospective study with 68 diagnosed cases of NDD at a tertiary care hospital in Bangladesh. Among them, more than one-third of children were in 1-5 years age group. The mean age was 10.2±3.1 year and male to female ratio was 2:1. Fifty percent of cases had a history of consanguineous parents. Leukodystrophy was most common (30.88%) among NDDs, followed by Wilson disease (26.47), SSPE (22.1%), and Degenerative Ataxia (20.59%). Motor skill regression was the most common presentation (97%), followed by speech regression in 91% and Gait disorder in 83% of children. Seizure was presenting features in 24% of children. Neuroimaging abnormalities were found in 80.88% NDD cases. Among them white matter hyper intensity in 29.41%, cerabeller atrophy in 13.25 %, and cerebral atropy in 11.76% of children. Eye changes were found in about two-thirds (69.12%) of cases of NDD. Among them, optic atrophy was found in 29.41%, and KF rings in 25.00% of cases.

scholarly journals Prevalence and pattern of adverse cutaneous drug reactions presenting to a tertiary care hospital

2017 ◽  
Vol 3 (1) ◽  
pp. 74
Author(s):  
B. Janardhan ◽  
D. Shailendra
Keyword(s):  
Drug Reaction ◽  
Adverse Drug Reactions ◽  
Tertiary Care ◽  
Clinical Manifestations ◽  
Care Hospital ◽  
Drug Reactions ◽  
Medical Sciences ◽  
Female Ratio ◽  
The Mean ◽  
Cutaneous Drug Reactions

<p class="abstract"><strong>Background:</strong> An adverse cutaneous drug reaction (ACDR) is defined as an undesirable clinical manifestation resulting from administration of a particular drug. With an ever increasing number of drugs and varied formulations being continuously made available it is important that a close watch on the risks of adverse drug reactions is looked for, to ensure safe use of medicines in the interest of the patient. In the present study our aim is to study the prevalence &amp; pattern of cutaneous adverse drug reactions reported to department of dermatology at MediCiti Institute of Medical Sciences, Hyderabad, India<span lang="EN-IN">.</span></p><p class="abstract"><strong>Methods:</strong> All suspected cutaneous adverse drug reactions reported to the department of dermatology at MediCiti Institute of Medical Sciences during the two year period from January 2013 to December 2014 were included in this study. A thorough clinical examination of all these cases &amp; details related to the drug use and clinical manifestations of the cutaneous adverse drug reaction were documented using a structured proforma. Naranjo scale was used to assess causality in all the causes of cutaneous adverse drug reactions.<strong></strong></p><p class="abstract"><strong>Results:</strong> The mean age of the patients was 42 years (age range: 1-64 years). Most of them were in the age group of 30-39 years. The male to female ratio was 1.78:1. The most common type of skin eruptions observed were maculopapular rash (35.55%), urticaria (26.19%) and fixed drug eruption (17.87%). The mean duration between drug intake and appearance of rash was 4 days (range: 1-120 days)<span lang="EN-IN">. </span></p><p class="abstract"><strong>Conclusions:</strong> The pattern of ACDRs and the drugs causing them in this study were similar to that reported in other studies both in terms of disease burden and clinical pattern. Knowledge of adverse cutaneous drug reactions will help to identify common medications contributing to dermatological reactions, so as to anticipate, prevent and limit their undue consequences<span lang="EN-IN">.</span></p>

scholarly journals A case control study on s. uric acid and s. creatinine level in pre-eclampsia patients of a tertiary care hospital in Jabalpur district of Central India

2018 ◽  
Vol 6 (5) ◽  
pp. 1519 ◽  
Author(s):  
Bhagwan S. Yadav ◽  
Sharad K. Jain ◽  
Neelam A. Toppo ◽  
Chanchlesh Dehariya
Keyword(s):  
Uric Acid ◽  
Serum Creatinine ◽  
Pregnant Women ◽  
Clinical Chemistry ◽  
Tertiary Care ◽  
Clinical Manifestations ◽  
Young Age ◽  
Control Group ◽  
Care Hospital ◽  
The Mean

Background: Pre-eclampsia is a multisystem disorder of pregnancy which is characterized by hypertension with proteinuria after 20 weeks of gestation in previously normotensive and non proteinuric pregnant women. Pre-eclampsia associated with intrauterine growth retardation, preterm birth, maternal and perinatal death. Serum creatinine and uric acid has been shown to play a significant role in the pathogenesis of the disease and often precede clinical manifestations. This study compares the serum creatinine and uric acid in pre -eclampsia case and normal pregnant women and to assess its role in pre-eclampsia.Methods: 158 patients of which 79 pre-eclampsia (cases) and 79 (controls) were selected randomly and were matched with their gestational age in patient who Attending ANC clinic at Department of Obstretics and Gynecology in March 2016 to August 2017. Lipid profile was estimated by the Randox imola is a compact fully automated clinical chemistry analyser.Results: Authors observed that pre-eclampsia is more common in young age pregnant women with low socioeconomic status with strenuous activities. The mean age was 24.51±3.707 years. The mean serum creatinine and urice acid value is analysed in pre-eclampia cases and compared with control group showing significantly increase (p<0.0001).Conclusions: Young age, nullyparity, low socio economic status specially labour occupation, with derangment of Serum creatinine in pregnant women were found to be more prone to develop pre-eclampsia. Proper history tacking, examination and estimation of serum creatinine and uric acid may be helpful for early diagnosis and management of pre–eclampsia in order to prevent fetal and maternal complications especially in nulliparous women.

scholarly journals Gender-wise Comparative Assessment of Lifestyle Patterns and Well-being Status among Healthcare Employees at a Tertiary Care Hospital

2021 ◽  
Author(s):  
Vanajakshamma Velam ◽  
Vyshnavi Kancherla ◽  
Latheef Kasala ◽  
Anusha Kancherla ◽  
Mounica Reddy Pillaram
Keyword(s):  
Tertiary Care Hospital ◽  
Tertiary Care ◽  
Well Being ◽  
Care Hospital ◽  
Cross Sectional ◽  
Significant Difference ◽  
Female Employees ◽  
The Mean ◽  
Lifestyle Patterns ◽  
Comprehensive Study

Abstract Background This study was an attempt to assess and compare the gender-wise lifestyle patterns and well-being status among the employees of a tertiary care teaching hospital. Material and Methods This is a cross-sectional, questionnaire-based study conducted at a tertiary care hospital between May and August 2019. A total of 777 employees belonging to both genders (male and female) and working at different professional levels were assessed. All the enrolled employees were subjected to a comprehensive study tool consisting of various dimensions of their health, which included physical, mental, social, spiritual and intellectual health dimensions. Results Among the participants, 327 (42.1%) were male and 450 (57.9%) were female. There was no significant difference in the mean age of male (37.91 ± 7.52) and female (36.85 ± 8.16) employees (p = 0.07). A significantly higher proportion of diabetes and hypertension were seen in male employees (9.8% and 14.4%, respectively) than in female (5.6% and 6.2% respectively). The overall well-being was better in male employees than in females and was statistically significant (p < 0.0001). We found that male employees had statistically significant better well-being in terms of physical, mental and social health whereas female employees had intellectual health. Conclusion The overall well-being in healthcare staff was good at our tertiary care hospital, and the outstanding/good well-being rate was higher in male employees than in female employees. Female employees experienced risks with regard to their physical health.

scholarly journals The clinical profile, management, and outcome of febrile neutropenia in acute myeloid leukemia from resource constraint settings

2021 ◽  
Vol 8 ◽  
pp. 204993612110365
Author(s):  
Kundan Mishra ◽  
Suman Kumar ◽  
Sandeep Ninawe ◽  
Rajat Bahl ◽  
Ashok Meshram ◽  
...  
Keyword(s):  
Overall Survival ◽  
Acute Myeloid Leukemia ◽  
Febrile Neutropenia ◽  
Burkholderia Cepacia ◽  
Myeloid Leukemia ◽  
Tertiary Care ◽  
Care Hospital ◽  
Significant Difference ◽  
The Mean ◽  
Acute Myeloid

Introduction: Acute myeloid leukemia (AML) is the commonest leukemia in adults. Mortality in thew first 30-days ranges from 6% to 43%, while infections account for 30–66% of early deaths. We aim to present our experience of infections in newly-diagnosed AML. Method: This prospective, observational study, was undertaken at a tertiary care hospital in Northern India. Patients with confirmed AML (bone marrow morphology and flow cytometry) and who had developed febrile neutropenia (FN), were included. Result: A total of fifty-five patients were included in the study. The median age of the patients was 47.1 years (12–71) and 28 (50.9%) were males. Fever (33, 60%) was the commonest presentation at the time of diagnosis. One or more comorbid conditions were present in 20 patients (36.36%). Infection at presentation was detected in 17 patients (30.9%). The mean duration to develop febrile neutropenia since the start of therapy was 11.24 days. With each ten-thousand increase in white blood cell (WBC) count, the mean number of days of FN development decreased by 0.35 days ( p = 0.029). Clinical and/or radiological localization was possible in 23 patients (41.81%). Thirty-four blood samples (34/242, 14.04%) from 26 patients (26/55, 47.3%) isolated one or more organisms. Gram negative bacilli (GNB) were isolated in 24 (70.58%) samples. Burkholderia cepacia (8/34, 23.52%) was the commonest organism. The number of days required to develop febrile neutropenia was inversely associated with overall survival (OS). However, when compared, there was no statistically significant difference in OS between patients developing fever on day-10 and day-25 ( p = 0.063). Thirteen patients (23.63%) died during the study period. Discussion: Low percentage of blood culture positivity and high incidence of MDR organisms are a matter of concern. Days to develop febrile neutropenia were inversely associated with overall survival (OS), emphasizing the importance of preventive measures against infections. Conclusion: Infections continues to be a major cause of morbidity and mortality among AML patients.

scholarly journals Attitude and Practice of Contraception among Gynecologists at a Tertiary Care Hospital

2013 ◽  
Vol 5 (3) ◽  
pp. 129-131 ◽  
Author(s):  
Sunita Hemani ◽  
Premlata Mital
Keyword(s):  
Tertiary Care Hospital ◽  
Tertiary Care ◽  
Healthcare Providers ◽  
Care Hospital ◽  
Barrier Method ◽  
Unintended Pregnancies ◽  
Attitude And Practice ◽  
Complete Knowledge ◽  
The Mean ◽  
Medical Healthcare

ABSTRACT Medical healthcare providers are an important link with the general public to impart knowledge regarding contraception. However, their own attitude and practice of contraception is often lacking. Objective This study was conducted to assess the attitude and practice of contraception over the last 5 years of the gynecologists themselves in a tertiary care hospital in Jaipur. Materials and methods The study was conducted on 125 female gynecologists in a tertiary care hospital in Jaipur. All were given a questionnaire which was duly filled by them and data obtained was analyzed. Results All the doctors used some form of contraception. The mean age was 29.32 years. The commonest was the barrier method (38.4%) followed by OC pills (27.2%). Twenty-one percent of the barrier users used them occasionally. Emergency contraception was used by either those using natural methods of contraception or who were occasional users of OC pills or condoms. Fifty percent of the couples relying on natural methods conceived. Conclusion Gynecologists have complete knowledge regarding contraception, yet fail to use it regularly. Proper attitude and practice is essential to prevent unintended pregnancies. How to cite this article Hemani S, Hooja N, Mital P. Attitude and Practice of Contraception among Gynecologists at a Tertiary Care Hospital. J South Asian Feder Obst Gynae 2013;5(3): 129-131.

A Comparative Study of Endoscopic Coblation Adenoidectomy and Regular Curettage Adenoidectomy in a Tertiary Care Hospital in Kerala

2021 ◽  
Vol 8 (41) ◽  
pp. 3559-3566
Author(s):  
Abdul Salam R. T. ◽  
Shahul Hameed A. ◽  
Meera Rajan
Keyword(s):  
Blood Loss ◽  
Comparative Study ◽  
Tertiary Care ◽  
Operation Time ◽  
Care Hospital ◽  
Adenoid Tissue ◽  
Significant Difference ◽  
Tube Function ◽  
Prospective Comparative Study ◽  
The Mean

BACKGROUND An ideal surgery to remove hypertrophied adenoid mass should be safe, with less bleeding and operation time along with post-operative improvement in the eustachian tubal ventilation and normal respiration. It should also have low morbidity and mortality. Among the various methods described for its removal, the two commonly used methods are conventional cold curettage method and coblation technique. The purpose of this study was to collate the safety and efficacy of endoscopic coblation adenoidectomy with the conventional curettage adenoidectomy. METHODS A prospective comparative study with fifty patients was studied who underwent adenoidectomy. Twenty five patients underwent endoscopy assisted coblation adenoidectomy and twenty five patients underwent regular adenoidectomy by curettage. RESULTS Patients who underwent coblation adenoidectomy showed better results during follow up in terms of completeness of removal. 80 % of children undergoing regular adenoidectomy by curettage method showed remnant adenoid tissue in the nasopharynx at the end of the procedure. But it was 6 % among the children undergoing endoscopic assisted coblation adenoidectomy. The mean duration of operation was higher for endoscopic assisted coblation adenoidectomy which was significant statistically. The mean blood loss was 30.36 ml in regular curettage adenoidectomy; 10.6 ml with endoscopic coblation adenoidectomy. The grading of pain was significantly lower in endoscopic assisted coblation adenoidectomy. There was no significant difference between two groups in terms of eustachian tube function after surgery. CONCLUSIONS Coblation adenoidectomy has significant advantages over conventional adenoidectomy in terms of completeness of removal, reduced blood loss, and lower post-operative pain grade. KEYWORDS Coblation, Adenoidectomy, Curettage, Haemorrhage and Complications

First and second wave of COVID-19: A comparative study of tertiary care hospitalized patients in Jalgaon, Maharashtra

2021 ◽  
Vol 19 (3) ◽  
pp. 23-29
Author(s):  
Yogita G Bavaskar ◽  
Keyword(s):  
Tertiary Care Hospital ◽  
Tertiary Care ◽  
Clinical History ◽  
Care Hospital ◽  
Age Group ◽  
Number Of Patients ◽  
The Mean ◽  
Collection Form ◽  
Time Of Admission ◽  
Second Wave

Background: Most of the countries including India have witnessed two or more waves of Covid 19 pandemic. The present study was conducted to compare the differences in clinico-demographic characteristics and outcomes of Covid 19 patients admitted in first and second wave of Covid 19 pandemic in a tertiary care hospital at Jalgaon, Maharashtra. Methods: A retrospective observational study was conducted at a tertiary care Dedicated Covid hospital for Covid 19 at Jalgaon, Maharashtra. All microbiologically proven corona positive patients were included in the study. The demographic records and clinical history was extracted from the case history sheets of the patients from first as well as second wave using standardized data collection form. Clinical outcome of the patients, i.e., development of complications, death or discharge was also recorded for each enrolled subject. Results: 3845 patients of Covid-19 admitted in the hospital during the first wave of epidemic and 2956 patients during second wave of the epidemic were included in the study. The mean age of patients admitted in the second wave was significantly lower as compared to first [48.77(15.31) years vs 50.23 (14.33) years, P<0.005]. There is increase in proportion of patients in the age group of < 15 years in second wave as compared to first wave (74/2956, 2.5% vs 52/3845, 1.3%). The number of patients requiring admission in ICU at the time of admission increased by 13% in second wave as compared to first wave. [827/2956 (28%) vs 577/3845(15%), P<0.0001]. More than half of the patients who got admitted for Covid 19 in first as well as second wave were having one or more comorbidities.But the proportion of the patients with previous co-morbities was significantly higher in second wave (1684/2956, 57% vs 1960/ 3845, 51%, P= 0.0004). The mortality was also higher in second wave (533/2956, 18.03% vs 541/3845, 14%, P=0.0004). Conclusions: The demographic, clinical characteristics and outcome of Covid 19 patients was different in first and second wave of pandemic with involvement of younger patients, increased rates of admission to ICU and more mortality in the second wave as compared to first wave of the pandemic.

Abstract TP226: Vertebral Artery Dissection is More Common Than Carotid Artery Dissection and More Difficult to Detect on Non-invasive Imaging

Stroke ◽  
2016 ◽  
Vol 47 (suppl_1) ◽  
Author(s):  
Mohammad O Nakawah ◽  
John Volpi
Keyword(s):  
Tertiary Care ◽  
Vertebral Artery Dissection ◽  
Clinical Manifestations ◽  
Carotid Artery Dissection ◽  
Vascular Imaging ◽  
Noninvasive Testing ◽  
Artery Dissection ◽  
Care Hospital ◽  
Anterior Circulation ◽  
Cerebral Angiogram

Background: Cervical artery dissections (CAD) are among the most common causes of stroke in young and middle-aged adults. In contrast to carotid dissections (CD) and anterior circulation ischemia, the clinical manifestations of vertebral dissections (VD) and posterior circulation ischemia are often nonspecific (e.g. dizziness and ataxia), and thus a high index of suspicion is necessary for diagnosis. Therefore, the reported incidence of VD in the medical literature is likely to be an underestimation. Methods: With IRB approval, we conducted a retrospective chart review study using the Neurology Database of Houston Methodist Neurological Institute to identify all patients diagnosed with CAD between August 2011 and March 2015. All patients presented with cerebral ischemia (TIA or stroke). The diagnosis of CAD was made by a stroke neurologist and was based on clinical presentation and appropriate vascular imaging studies. Patients with incidental CAD and those with questionable diagnosis of CAD clinically and radiographically were excluded. Over the studied period (32 months), a total of 677 TIA patients and 3230 stroke patients were admitted to our tertiary-care hospital. Results: Of 52 patients with CAD-related TIA or ischemic stroke, there were 34 patients (65.4%) with VD and 18 patients (34.6%) with CD. The average age of presentation is 47 years (range: 18 to 75 years) for VD patients and 51 years (range: 34 to 78 years) for CD patients. CAD was slightly more common in males, with 18 VD patients (52.9%) and 10 CD patients (55.5%) in our studied population were males. Out of 30 patients with VD who underwent both noninvasive vascular imaging (MRA or CTA) and cerebral angiogram, dissection was detected on noninvasive imaging in 10 patients (33.3%). On the other hand, out of 13 patients with CD who had both types of imaging modalities, dissection was detected on noninvasive testing in 8 patients (61.5%). Conclusions: VD was detected approximately twice as frequently as CD in our study. Both conditions are slightly more common in men with an average age of presentation is about 50 years. In addition, our data suggest that noninvasive testing is more likely to diagnose carotid dissection (in two-third of cases) than vertebral dissection (in one-third of cases).

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