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Background@#and Purpose Pathogenic variants in the myopalladin gene (MYPN) are known to cause mildly progressive nemaline/cap myopathy. Only nine cases have been reported in the English literature. @*Methods@#A detailed evaluation was conducted of the clinical, muscle magnetic resonance imaging (MRI), and genetic findings of two unrelated adults with MYPN-related cap myopathy. Genetic analysis was performed using whole-exome sequencing. MRI was performed on a 1.5-T device in patient 1. @*Results@#Two unrelated adults born to consanguineous parents, a 28-year-old male and a 23-year-old female, were diagnosed with pathogenic variants in MYPN that cause cap myopathy. Both patients presented with early-onset, insidiously progressive, and minimally disabling proximodistal weakness with mild ptosis, facial weakness, and bulbar symptoms. Patient 1 had a prominent foot drop from the onset. Both patients were followed up at age 30 years, at which point serum creatine kinase concentrations were minimally elevated. There were no cardiac symptoms; electrocardiograms and two-dimensional echocardiograms were normal in both patients. Muscle MRI revealed preferential involvement of the glutei, posterior thigh muscles, and anterior leg muscles. Whole-exome sequencing revealed significant homozygous splicesite variants in both of the probands, affecting intron 10 of MYPN: c.1973+1G>C (patient 1) and c.1974-2A>C (patient 2). @*Conclusions@#This study elaborates on two patients with homozygous MYPN pathogenic variants, presenting as slowly progressive congenital myopathy. These patients are only the tenth and eleventh cases reported in the English literature, and the first from South Asia. The clinical phenotype reiterates the mild form of nemaline rod/cap myopathy. A comprehensive literature review is presented.
ABSTRACT
Background@#and Purpose Pathogenic variants in the myopalladin gene (MYPN) are known to cause mildly progressive nemaline/cap myopathy. Only nine cases have been reported in the English literature. @*Methods@#A detailed evaluation was conducted of the clinical, muscle magnetic resonance imaging (MRI), and genetic findings of two unrelated adults with MYPN-related cap myopathy. Genetic analysis was performed using whole-exome sequencing. MRI was performed on a 1.5-T device in patient 1. @*Results@#Two unrelated adults born to consanguineous parents, a 28-year-old male and a 23-year-old female, were diagnosed with pathogenic variants in MYPN that cause cap myopathy. Both patients presented with early-onset, insidiously progressive, and minimally disabling proximodistal weakness with mild ptosis, facial weakness, and bulbar symptoms. Patient 1 had a prominent foot drop from the onset. Both patients were followed up at age 30 years, at which point serum creatine kinase concentrations were minimally elevated. There were no cardiac symptoms; electrocardiograms and two-dimensional echocardiograms were normal in both patients. Muscle MRI revealed preferential involvement of the glutei, posterior thigh muscles, and anterior leg muscles. Whole-exome sequencing revealed significant homozygous splicesite variants in both of the probands, affecting intron 10 of MYPN: c.1973+1G>C (patient 1) and c.1974-2A>C (patient 2). @*Conclusions@#This study elaborates on two patients with homozygous MYPN pathogenic variants, presenting as slowly progressive congenital myopathy. These patients are only the tenth and eleventh cases reported in the English literature, and the first from South Asia. The clinical phenotype reiterates the mild form of nemaline rod/cap myopathy. A comprehensive literature review is presented.
ABSTRACT
Context: Type 1 diabetes mellitus (T1DM) is a chronic systemic metabolic disease. This disorder affects mainly children and adolescents. The main complications of diabetes mellitus affect the organs and tissues rich in capillary vessels such as kidney, retina, and nerves. These complications are secondary to the development of microangiopathy. Similar changes in small vessels can be found in the oral tissues. There is a significant increase in gingival inflammation and plaque seen in children with T1DM. Aims: The aim of this study is to assess the oral health status and knowledge among T1DM children and young adolescents aged 10–15 years in Bengaluru. Subjects and Methods: One hundred and seventy-five 10–15 year-old children with T1DM and 175 age, sex, and socioeconomic status matched nondiabetic controls were included in the study. Oral health status was assessed using community periodontal Index and decayed/decayed-missing/missing-filled/filled teeth index (DMFT/dmft). Oral health knowledge was assessed using 11 item questionnaire. Chi-square test and Student's t-test were used in the statistical analysis. Results: With regard to periodontal status, subjects with healthy periodontal tissue were less in diabetic than control group. Patients with bleeding and calculus were more in diabetic group than control group. The difference between diabetic group and control group was statistically significant (P = 0.001).The mean number of DMFT/dmft were less in diabetics (0.07 ± 0.006)/(0.26 ± 0.05) compared to control groups (0.1 ± 0.01)/(0.84 ± 0.2), respectively. Overall, oral health knowledge was more among diabetic patients (8.3 ± 1.7) compared to controls (7.5 ± 1.8). Conclusions: The results of the present study showed more gingival changes and higher oral health knowledge in diabetic group when compared to control group.
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Introduction: Estimates from the World Health Organisation (WHO) indicate that 1 million accidental poisoning and 2 million suicide attempts involving pesticides occur the world over. Large proportion present to the ICU with an acute suicidal attempt with male predominance. The case mortality in the developing world is more than 20%. The cardiac manifestations are hypotension, bradycardia, and varied Electrocardiogram (ECG) changes manifested by prolonged QTc interval, inverted T waves, prolonged PR interval, and ST-segment elevation. There is also a high incidence of respiratory failure which has a high mortality. Aim of the study: ECG changes and systemic manifestations with organophosphorous compounds and its relationship to the nature of the compound and its outcome. Materials and methods: The study was conducted at Rajiv Gandhi Government General Hospital and Madras Medical College during a month period from June 2010 and October 2010. The study was conducted on a total of 102 patients admitted to the toxicology unit of Rajiv Gandhi Government General Hospital. A detailed history and physical examination and biochemical and ECG monitoring were done. Results: Most of the patients were in the age group 21-30. The mortality rate was 17%. The percentage of death was noted to be increased in the extremes of age groups less than 20 and more than 60 years. Of the patients who expired mortality was highest in monocrotophos consumption and a majority of them had ECG changes and renal (16%)/respiratory failures (58%). The ECG abnormality was seen in 64% of individuals. Conclusion: We concluded from this study that Electrocardiographic changes correlated independently with the prognosis of the OP poisoning cases and the identification of them, particularly QTc prolongation and timely shifting of cases to ICU and CCU where adequate N. Jayaprakash, S. Geetha. A study of the ECG changes associated with Organophosphorous compound poisoning. IAIM, 2019; 6(2): 69-73. Page 70 resuscitative measures, ventricular pacing facilities available can prevent such sudden cardiac deaths. Blood transfusion is said to have a role in severe poisoning in rapidly replenishing acetylcholinesterase enzyme.
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A published pilot study showed the feasibility of integrating ethics into physiology in a single medical college. However, questions were raised about feasibility of scale-up and acceptance across different colleges. To assess feasibility of integrating ethics into Physiology, first year MBBS students of three medical colleges (n=449, College A=149; 59M, 90F; College B=150; 78M, 72F; College C=150; 48M, 102F) were exposed to the integrated ethics programme. Triggers related to theory or practicals were included. Faculty volunteers conducted the sessions with feedback from observers and students. Students across three colleges felt that the programme was relevant (92%–98%), effectively integrated (86%–98%) [significantly greater number of College A students: (p=0.003)], seldom interfered with physiology teaching (59%–66%). Greater number of students from College C followed by College B and A opined to continue the integrated programme for future years (p=0.004). A scale-up study of integration of ethics programme across different colleges was perceived to be feasible by students and observers.
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Background: Reduced production of thyroid hormone is the central feature of the clinical state termed Hypothyroidism. Hypothyroidism is associated with bradycardia, a decreased cardiac output, increased vascular resistance and perhaps a decreased sensitivity of the sympathoadrenal system. Aim and objective: To assess the cardiovascular functions in diagnosed hypothyroidism patients. Materials and methods: A total number of 70 hypothyroid patients were enrolled in this study. The clinical features, cardiovascular manifestations were studied by ECG, ECHO, chest X-ray lipid profiles. Results: Most of the cases fell in the age group of 31-40 years at a percentage of 52.9%. On analysis of 70 cases, 41% of cases were in moderate hypothyroidism group. On analyzing the pulse rate of 34% of the cases had bradycardia (PR <60/min). Mean BP- 131/84 mm Hg (Range: 118-166/66 – 102 mm Hg). Most of the patients fell into the pre-HT group which was around 66%. 24% of hypothyroid patients were hypertensive (BP >140/90 mm Hg). Lipid analysis in hypothyroid patients showed an increase in total cholesterol. 54.3% of patients had hypercholesterolemia (> 300 mg/dL). On analyzing the ECG changes in hypothyroid patients the most common finding was sinus bradycardia. It was found in 39% of cases. Next was low voltage complex which is around 34%. Normal ECG was found in 14% of patients. Least common findings were ST-T changes, RBBB and LBBB. Out of 70 cases, 12 (17.14%) patient showed enlarged cardiac silhouette (cardiomegaly). 34% of the patients had pericardial effusion. 30 % of the patients had diastolic dysfunction. Systolic dysfunction occurred in 4.3% of them, while IVST and LVPWT were seen in 14.3% and 12.9% respectively. Conclusion: Any unexplained diastolic dysfunction or pericardial effusion should be screened for hypothyroidism. Early detection of hypothyroidism and proper replacement therapy found to reverse the cardiovascular complications and thereby can decrease the morbidity and mortality.
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Background: Atrial fibrillation (AF) is the most common sustained cardiac arrhythmia encountered in clinical practice. This study is about the etiological and clinical profile of paroxysmal, persistent and permanent AF. Aim: The aim of this article was to review the clinical epidemiological features of atrial fibrillation. Materials and methods: A hospital-based descriptive study was conducted among 50 patients, diagnosed as atrial fibrillation in Cardiology Department, from 2016 to 2017. Results: Out of 50 patients with atrial fibrillation, 32% were aged between 60 – 69 years and 42(84%) were females and 8 (16%) were males. Permanent AF was seen in 56% patients. Conclusions: Palpitation followed by dyspnoea was the major symptoms encountered with atrial fibrillation, and in females within the age group of 50 years and above are prone to develop AF.