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Purpose: Inherited retinal dystrophies (IRD) are a heterogeneous group of retinal diseases leading to progressive loss of photoreceptors through apoptosis. Retinitis pigmentosa (RP) is considered the most common form of IRD. Panel?based testing in RP has proven effective in identifying the causative genetic mutations in 70% and 80% of the patients. This is a retrospective, observational, single?center study of 107 RP patients who had undergone next?generation sequencing?based targeted gene panel testing for IRD genes. These patients were inspected for common phenotypic features to arrive at meaningful genotype–phenotype correlation. Methods: Patients underwent complete ophthalmic examination, and blood was collected from the proband for DNA extraction after documenting the pedigree. Targeted Next Generation Sequencing (NGS) was done by panel?based testing for IRD genes followed by co?segregation analysis wherever applicable. Results: Of the 107 patients, 72 patients had pathogenic mutations. The mean age of onset of symptoms was 14 ± 12 years (range: 5–55). Mean (Best Corrected Visual Acuity) BCVA was 6/48 (0.9 logMAR) (range 0.0–3.0). At presentation, over one?third of eyes had BCVA worse than 6/60 (<1 logMAR). Phenotype analysis with the gene defects showed overlapping features, such as peripheral well?defined chorioretinal atrophic patches in patients with CERKL, PROM1, and RPE65 gene mutations and large macular lesions in patients with RDH12 and CRX gene mutations, respectively. Nummular or clump?like pigmentation was noted in CRB1, TTC8, PDE6A, and PDE6B. Conclusion: NGS?based genetic testing can help clinicians to diagnose RP more accurately, and phenotypic correlations can also help in better patient counselling with respect to prognosis and guidance regarding ongoing newer gene?based therapies.
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Introduction: Gastro-esophageal reflux disease (GERD) is a condition characterized by the reflux of stomach contents into the esophagus, causing unpleasant symptoms and/or consequences like heartburn and acid regurgitation. GERD in the student stages can hurt their quality of life, college attendance, everyday activities, and overall well- being of the individual. Materials and Methods: This is a cross-sectional study that was conducted among medical students of a tertiary care setting from August 2021 to October 2021 for a three-month duration. A convenient sample of 458 participants from all the years of MBBS was included in this study. Results: A total of 458 medical students were made part of this study of which most of them (58.9%) were females and 41.1% were males. The average age among the study participants was 22 ± 2.3 years (range of 18–27 years). The average BMI of the individuals was 23.48 (range 14.58–32.41), with the majority (54.8%) of them having a normal BMI. Discussion: In our study, we found that the prevalence of GERD in the medical students of a rural Indian tertiary care setting was 24.2%, and was observed that irregular meal timings and consuming coffee and soft drinks are the crucial risk factors for developing GERD in the medical students in comparison to the general population. Conclusion: Medical students should be trained on proper eating habits, maintaining ideal body weight, good sleep hygiene, and avoiding drinking alcohol and smoking to lessen the burden of GERD.
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@#Prior to COVID-19, dengue was an important public health problem in Malaysia. Due to the movement control order imposed by the Malaysian government to curb the COVID-19 transmission, a study predicted that mosquito-borne diseases would increase during lockdown and partial lockdown seasons. Thus, this study aims to determine the current situation of dengue incidence during the pre-COVID-19 pandemic (2019) and during the COVID-19 pandemic (2020 and 2021). We compared the number of laboratory-confirmed cases in the pre-COVID19 year (2019) and during the COVID-19 pandemic (2020 and 2021). In addition to that, we characterized the clinical manifestation, dengue serotype and viremia levels of dengue patients that were admitted to the Hospital Cancelor Tuanku Muhriz. We found a significant decrease in the number of laboratory-confirmed cases between COVID-19 pandemic and the pre-covid period (p2020=0.064; p2021<0.001). In this study, we found DENV 4 serotype was the most common serotype in dengue patients admitted to our hospital. There was no significant correlation between DENV serotype/viremia level with clinical manifestation of dengue fever and dengue with warning signs. However, patients infected with DENV4 had the highest viral load compared to patients infected with other serotypes. We also found high viremia levels were significantly associated with the febrile phase.
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@#Melioidosis is endemic in Southeast Asia, including Malaysia. Liver abscess is not uncommon in melioidosis, but it is usually associated with bacteremia. We presented a case of a 55-year-old gentleman with underlying end-stage renal failure who presented with non-specific abdominal pain for three months. Initial blood investigations showed leukocytosis and increased C-reactive protein. Computed tomography (CT) of the abdomen revealed multiple hypodense lesions in the liver and spleen. The culture of the liver specimen obtained through the ultrasound-guided isolated Burkholderia pseudomallei. He was given an adjusted dose of intravenous ceftazidime due to underlying renal failure. Melioidosis serology also returned positive for IgM with titer >1:1280. His blood cultures were reported negative three times. Despite on antibiotics for five weeks, there was no significant improvement of the liver abscesses was observed. He was unfortunately infected with the SARS-CoV-2 virus during his admission and passed away due to severe COVID-19 pneumonia.
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Objectives: To evaluate the prognostic ability of serum ferritin when estimated within 5 days of onset of illness in children with severe sepsis admitted to a pediatric intensive care unit. Methods: This observational study enrolled children aged 1 month to 12 years with severe sepsis. Hemoglobin, serum ferritin and C-reactive protein levels were measured within five days of illness. Final outcomes were recorded in all enrolled children. Results: 70 children with median (IQR) age of 27 (8,108) months were enrolled during the study period (July, 2019 to August, 2021). 28 (40%) of these had poor outcome (nonsurvival). The median (IQR) level of serum ferritin was 1369 (558-5607) ng/mL in nonsurvivors and 282 (129-680) ng/mL in survivors (P<0.05). A significant correlation was seen between serum ferritin and Pediatric Risk of Mortality III (PRISM III) score (r=0.364 P=0.002) and pediatric Sequential Organ Failure Assessment (pSOFA) score (r=0.246 P=0.04) at 48 hours of admission. 54 (77.1%) children were anemic. Serum ferritin levels in children with anemia also had a good predictive ability for poor outcome [AUC: 0.764, 95% CI: 0.634, 0.894]. Conclusions: Serum ferritin levels, within five days of onset of illness, predicted poor outcome in critically ill children with severe sepsis and in children with microcytic anemia.
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Purpose: Stickler syndrome is associated with the development of rhegmatogenous retinal detachment (RRD), and often presents with ocular, auditory, skeletal, and orofacial abnormalities. Molecular analysis has proven effective in diagnosis, confirmation and classification of the disease. We aimed to describe the utility of next?generation sequencing (NGS) in genetic analysis of four Indian families with suspected Stickler syndrome. Methods: The index cases presented with retinal detachment with family history. Genetic analysis in the index case was performed by next?generation sequencing of inherited retinal degeneration genes, and validated by Sanger sequencing followed by co?segregation analysis in the other family members. Results: Twenty patients were included for the genetic analysis (15 males and 5 females from four families). Clinical details were available for 15 patients (30 eyes). Fourteen eyes (11 patients) developed RRD. In the 16 eyes without RRD, 8 underwent barrage laser to lattice degeneration and 8 were under observation. Disease segregating heterozygous mutations with pathogenic/likely pathogenic effect was identified in COL2A1 (c.4318?1G>A, c.141G>A, c.1221+1G>A for 3 families) and COL11A1 (c.1737+1 G>A for 1 family) gene. In addition to the mutation in the COL2A1 gene, a pathogenic heterozygous variant associated with risk for arrhythmogenic right ventricular cardiomyopathy (ARVC) was identified in one member. Conclusion: NGS testing confirmed the presence of the causative gene for Stickler syndrome in the index case followed by evaluation of family members and confirmation of genetic and ocular findings. We believe that this may be the first such report of families with RRD from India
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@#Pharmacotherapeutics are being repurposed and used as off-label at various stages of COVID-19 infection. Clinical trials are being initiated or are ongoing to investigate the effectiveness and safety of these pharmacotherapeutics. This review article outlines the current pharmacotherapeutics and the controversies surrounding their use. The pharmacotherapeutics that were discussed are hydroxychloroquine, favipiravir, lopinavir/ritonavir, remdesivir, interferons, tocilizumab, and steroids. We also discussed the special consideration for pharmacotherapeutics in COVID-19 infection. No pharmacotherapeutics have been found to be effective and approved for the treatment of COVID-19 infection. However, there are clinical trials that have eliminated the possibilities of use of some pharmacotherapeutics while others had shown promising preliminary results of its use
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The COVID-19 pandemic has revealed sex-based differences in anti-viral responses, with a higher rate of SARS-CoV-2 infections as well as a higher rate of morbidity and mortality in men than in women. Males and females also show disparate immune responses to COVID-19 infection, which may be important contributors to lower rates of infection, disease severity and deaths in women than in men. Here, the authors review sex differences in SARSCoV- 2 infections, anti-viral immunity and vaccine responses, putting forth the importance of sex, the underappreciated variables in vaccine response and disease infectivity.
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The COVID-19 pandemic has revealed sex-based differences in anti-viral responses, with a higher rate of SARS-CoV-2 infections as well as a higher rate of morbidity and mortality in men than in women. Males and females also show disparate immune responses to COVID-19 infection, which may be important contributors to lower rates of infection, disease severity and deaths in women than in men. Here, the authors review sex differences in SARSCoV- 2 infections, anti-viral immunity and vaccine responses, putting forth the importance of sex, the underappreciated variables in vaccine response and disease infectivity.
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Objectives: The coronavirus disease 2019 (COVID-19) pandemic affected routine healthcare services across all spectra, and tuberculosis (TB) care under the National Tuberculosis Elimination Program have been affected the most. However, evidence available at the community level is minimal. The clinical features, care cascade pathway, and treatment outcomes of TB patients pre- and during/post-COVID-19 pandemic lockdown in a rural community health block in northern India were assessed and compared.Materials and Methods: This was a retrospective cohort study that included all patients diagnosed with TB and initiated treatment under programmatic settings between January 1 and June 30, 2020, in a rural TB unit in northern India. The periods from January 1 to March 23 and March 24 to June 30 were marked as pre-lockdown and during/post-lockdown, respectively.Results: A total of 103 patients were diagnosed and treated for TB during the study period. A significantly higher proportion of pulmonary TB cases were reported during/post-lockdown (43, 82.7%) compared to that pre-lockdown (32, 62.7%), and a higher diagnostic delay was noted during/post-lockdown (35, 81.4%). Through adjusted analysis, patients diagnosed during/post-lockdown period (adjusted risk ratio [aRR], 0.85; 95% confidence interval [CI], 0.73–0.98) and previously treated (aRR, 0.77; 95% CI, 0.60–0.995) had significantly lower favorable treatment outcomes.Conclusions: The symptom and disease (pulmonary/extrapulmonary) pattern have changed during/post-lockdown. The care cascade delays are still high among TB patients, irrespective of the lockdown status. Lockdown had a significant adverse impact on the outcomes of TB treatment.
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Objectives@#Physical distancing is a control measure against coronavirus disease 2019 (COVID-19). Lockdowns are a strategy to enforce physical distancing in urban areas, but they are drastic measures. Therefore, we assessed the effectiveness of the lockdown measures taken in the world’s second-most populous country, India, by exploring their relationship with community mobility patterns and the doubling time of COVID-19. @*Methods@#We conducted a retrospective analysis based on community mobility patterns, the stringency index of lockdown measures, and the doubling time of COVID-19 cases in India between February 15 and April 26, 2020. Pearson correlation coefficients were calculated between the stringency index, community mobility patterns, and the doubling time of COVID-19 cases. Multiple linear regression was applied to predict the doubling time of COVID-19. @*Results@#Community mobility drastically fell after the lockdown was instituted. The doubling time of COVID-19 cases was negatively correlated with population mobility patterns in outdoor areas (r = –0.45 to –0.58). The stringency index and outdoor mobility patterns were also negatively correlated (r = –0.89 to –0.95). Population mobility patterns (R2 = 0.67) were found to predict the doubling time of COVID-19, and the model’s predictive power increased when the stringency index was also added (R2 = 0.73). @*Conclusions@#Lockdown measures could effectively ensure physical distancing and reduce short-term case spikes in India. Therefore, lockdown measures may be considered for tailored implementation on an intermittent basis, whenever COVID-19 cases are predicted to exceed the health care system’s capacity to manage.
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Congenital diaphragmatic hernia consists of a defect of the diaphragm that allows the passage of abdominal viscera into the thorax. Congenital diaphragmatic hernia most commonly present in infancy and childhood due to respiratory distress. However, a few of them may escape into adulthood. A very few of these adult cases may be identified during a routine medical checkup for various other reasons without any cardio-respiratory problems. In our case report, we have diagnosed incidentally an asymptomatic left diaphragmatic hernia with cardio-mediastinal shifting in a 38 years old female admitted for left breast fibroadenoma excision during a routine pre-anesthetic check-up and underwent breast surgery without any cardio-respiratory problems.
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Kimura's disease (KD) is a chronic inflammatory disease, a rare variety. It usually presents as non-tender subcutaneous swelling in head and neck region, predominantly in preauricular and submandibular area and is often associated with cervical lymphadenopathy, marked peripheral eosinophilia and an elevated immunoglobulin E (IgE) level. Renal involvement is the only systemic manifestation.4 Nephrotic syndrome is the most common manifestation of renal disease in KD. Diagnosis through Fine needle aspiration cytology (FNAC) is misleading and can easily be mistaken as a malignant disease. So, diagnosis is therefore only established by histopathological examination. The treatment of KD involves one of three major approaches are surgical excision, irradiation, or steroid therapy. Surgical excision is recommended as the treatment of choice but carries recurrence rates of 33-50%. In our study, we are reporting a case of elderly female who presented with left sided cervical lymphadenopathy for which excision biopsy was done and the histopathology examination shown as kimura lymphadenopathy, a rare case.
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Supportive supervision is one of the most important tasks in health systems management. A baseline assessment conducted by the primary health care transformation initiative had shown that the Gurage Zone health department had been conducting regular supportive supervision every quarter for the last five years in Gurage Zone. The study proposed establishing a feedback auditing system as an intervention to routinely assess the progress of previous visit actions included in the written feedback. The finding showed the culture of working on previous supportive supervision action items by woreda (district) health offices were significantly improved
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Introduction: Rheumatoid arthritis (RA) is a chronic inflammatory disorder, involving joints and extra-articular manifestations. About 50% mortality in RA is due to cardiovascular disease. Cardiovascular events occur approximately a decade earlier in RA like that in diabetes mellitus. Aim: The aim of the study was to correlate and compare the association between disease severity and various clinical and cardiovascular manifestations in RA patients. Materials and Methods: This prospective cross-sectional study is carried out in known RA patients fulfilling the American College of Rheumatology criteria 2010 attending General Medicine and Rheumatology outpatient clinic of Tirunelveli Medical College Hospital between April 2017 and April 2018. They have been subjected to detail clinical and laboratory investigations and their cardiovascular manifestations are compared with their clinical profile and disease activity score. Results: In this study, 50 patients were included, with a mean age of 47.76 years and 72% of female patients. The mean clinical disease activity index (CDAI) score among them is 25.16 ± 10.4. The disease severity was high among our study group with 60% of cases occupying high CDAI score with no patients under remission. The most common electrocardiogram abnormality found in the study group was left axis deviation (30%) followed by nonspecific ST-T changes (24%). Mean carotid intima-media thickness (CIMT) was found to be increased in 68% of patients. Asymptomatic carotid plaque was present in 8% of patients. The most common echocardiographic abnormality is left ventricular (LV) diastolic dysfunction, which contributes 44% in our study group. Conclusion: Cardiovascular abnormalities such as LV diastolic and systolic dysfunction, premature atherosclerosis occur commonly in RA patients and positively correlate with CDAI score, disease duration, and treatment duration. All RA patients should be screened for chorionic villus sampling abnormalities through echocardiography and CIMT periodically
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Objectives@#Considering the rising menace of coronavirus disease 2019 (COVID-19), it is essential to explore the methods and resources that might predict the case numbers expected and identify the locations of outbreaks. Hence, we have done the following study to explore the potential use of Google Trends (GT) in predicting the COVID-19 outbreak in India. @*Methods@#The Google search terms used for the analysis were “coronavirus”, “COVID”, “COVID 19”, “corona”, and “virus”. GTs for these terms in Google Web, News, and YouTube, and the data on COVID-19 case numbers were obtained. Spearman correlation and lag correlation were used to determine the correlation between COVID-19 cases and the Google search terms. @*Results@#“Coronavirus” and “corona” were the terms most commonly used by Internet surfers in India. Correlation for the GTs of the search terms “coronavirus” and “corona” was high (r > 0.7) with the daily cumulative and new COVID-19 cases for a lag period ranging from 9 to 21 days. The maximum lag period for predicting COVID-19 cases was found to be with the News search for the term “coronavirus”, with 21 days, i.e., the search volume for “coronavirus” peaked 21 days before the peak number of cases reported by the disease surveillance system. @*Conclusions@#Our study revealed that GTs may predict outbreaks of COVID-19, 2 to 3 weeks earlier than the routine disease surveillance, in India. Google search data may be considered as a supplementary tool in COVID-19 monitoring and planning in India.
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@#The world feels strange as we face what is for most of us ourfirst ever pandemic. The number of newly diagnosed casesrises daily in many parts of the world, and we are faced withthe reality that there are still many things to learn about thisnew disease. We share here our experience of treating ourfirst 199 COVID-19 patients in the Hospital Canselor TuankuMuhriz, Pusat Perubatan Universiti Kebangsaan Malaysia(PPUKM).
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@#Background: COVID-19 has the potential to affect the mental health of health care workers (HCWs). It is known that HCWs who serve as front-liners during the COVID-19 pandemic experience stress and have the fear of contracting the infection. Little is known of how being a positive contact affects HCWs. Objective: We examined the experience of HCWs who were quarantined following a close unprotected contact with a COVID-19 positive colleague and explore the psychological impact especially as the timing of the quarantine coincided with the Eid (annual Muslim festival) celebration in Malaysia. Methods: This was a cross-sectional on-line questionnaire study, involving HCWs exposed to a COVID-19 positive colleague in Universiti Kebangsaan Malaysia Medical Centre, a teaching hospital. Data on demographics, levels of depression, anxiety and stress using a validated depression, anxiety, and stress scale (DASS-21) questionnaire, aspects of quarantine, wearing of masks, hand hygiene practice and swab experience were collected. Results: Twenty-two HCWs participated. Eighteen (81.8%) were between 30-39 years and 17 (77.3%) were women. Majority 19 (86.3%) were Malays. There were twelve (54.5%) medical officers, 5 (22.7%) specialists and 5(22.7%) allied health staff. Eighteen out of 22 (81.8%) felt they were able to do home quarantine adequately. All tested negative with a mean (Standard Deviation) hour of contact of 2.56±2.38 hours. Eighteen reported their biggest concern was infecting their families. Conclusion: HCWs undergoing contact swabbing and quarantine are vulnerable to depression, anxiety and stress. The ability of the HCW to adequately home quarantine should not be taken for granted. Psychological support should be offered to HCWs who are positive contacts.
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@#Background and objective: Coronavirus Disease 2019 (COVID19) was first reported in Malaysia in March 2020. We describe here the clinical characteristics and computed tomography (CT) patterns in asymptomatic young patients who had laboratory-confirmed COVID-19. Methods: This is a retrospective observational study where 25 male in-patients with laboratory-confirmed COVID-19 in Hospital Canselor Tuanku Muhriz. Demographics, clinical data and CT images of these patients were reviewed by 2 senior radiologists. Results: In total there were 25 patients (all males; mean age [±SD], 21.64±2.40 years; range, 18-27 years). Patients with abnormal chest CT showed a relatively low normal absolute lymphocytes count (median: 2.2 x 109/L) and absolute monocyte count (median: 0.5 x 109/L). Lactate dehydrogenase was elevated in 5 (20%) of the patients. The procalcitonin level was normal while elevated levels of alanine aminotransferase, total bilirubin, platelet and C-reactive protein were common. Baseline chest CT showed abnormalities in 6 patients. The distribution of the lesions were; upper lobe 3 (12%) lower lobe 3 (12%) with peripheral distribution 4 (16%). Of the 25 patients included, 4 (16%) had ground glass opacification (GGO), 1 (4%) had a small peripheral subpleural nodule, and 1 (4%) had a dense solitary granuloma. Four patients had typical CT features of COVID-19. Conclusion: We found that the CT imaging showed peripheral GGO in our patients. They remained clinically stable with no deterioration of their respiratory symptoms suggesting stability in lung involvement. We postulate that rapid changes in CT imaging may not be present in young, asymptomatic, non-smoking COVID-19 patients. Thus the use of CT thorax for early diagnosis may be reserved for patients in the older age groups, and not in younger patients.
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Introduction: The increasing prevalence of ureteric stone is a matter of concern in this era and it may be linked to improvedquality of life. Medical expulsive therapy, including alpha-blockers, steroids, and calcium channel blockers, has been extensivelystudied for improving the rate of stone passage in patients who do not require immediate urologic intervention.Aim: The aim of this study is to compare the efficacy of tamsulosin and tadalafil in expulsive treatment for distal ureteralstones.Materials and Methods: This was a prospective comparative study included 120 adult patients (>18 years of age) presentingwith distal ureteric stones were randomized into 60 patients with tamsulosin 0.4 mg once daily (Group A) or 60 patients withtadalafil 10 mg once daily (Group B) treatment. Therapy was given for a maximum of 4 weeks.Results: About 85% of study patients had a size between 5 mm and 7 mm and 18 patients had size between 8 mm and 10 mm.There was no statistical difference noted in the pain duration and analgesic usage of both groups. In Group A, 67% of patientshad expulsion of stones; in Group B, 63% of patients had expulsion of stones. About 90% of patients in 40 cases of expelledstones are in <5 days in Group A and 89% of patients 38 cases of expelled stones are in <5 days in Group B. There was nostatistical difference noted between both groups.Conclusion: Tamsulosin and tadalafil have shown similar expulsion rate. Both of them simultaneously provides better paincontrol and significantly lower the needs for analgesia.