Adverse drug reaction monitoring on antiretroviral therapy in human immunodeficiency virus patients in a tertiary care hospital

Background: The aim of current study was to assess the pattern of adverse drug reactions (ADRs) in patients receiving antiretroviral (ARV) therapy.Methods: A prospective, observational study was carried out for duration of 15 months. Clinical and treatment data were collected from patients, who underwent ARV therapy during the study period. CDSCO forms were used to record the ADRs. Causality, severity and preventability were assessed by suitable scales.Result: Out of 216 patients 165 (76%) patients develop ADRs. Total of 274 ADRs were noted among 165 patients (1.66 ADR/patient). Out of them 100 (60.60%) were males and 65 (39.39%) were females. The most common ADR was gastrointestinal disorders (83, 30.29%). The most numbers of ADRs were observed in ZLN (Zidovudine + Lamivudine + Nevirapine) regimen (54%) followed by SLN (Stavudine + Lamivudine + Nevirapine) regimen (26%). According to WHO causality assessment scale most ADRs were possible (236, 86.13%). Hartwig and Siegel severity scale show 243 (88.69%) ADRs were moderate. Schumock and Thornton scale show all, ADRs were “not preventable.”Conclusion: Early detection of drug toxicity helps to treat the patient and modify the drug regimen to minimize toxic effects

Pure interstitial dup(6)(q22.31q22.31) – a case report

‘Pure’ interstitial duplication of chr6q is rare. The varying size of duplication encompassing 6q22.31 is associated with the expressivity of dysmorphism and autism. Here, we report a unique case with facial dysmorphism, developmental delay, complex neurological impairment and spasticity unrelated to autism. Genetic analysis by aCGH exhibited a 627–971 kb dup(6)(q22.31q22.31) encompassing TRDN and NKAIN2 genes. The presence of the duplication was confirmed by quantitative PCR in the proband and phenotypically normal parents. With the current techniques, we cannot exclude presence of a deleterious homozygous point mutation in the proband where each copy would have been inherited from both parents

Hypertrophic cardiomyopathy: in a search of its own identity

Hypertrophic cardiomyopathy (HCM) is a genetic disorder characterized by left ventricular hypertrophy not explained by secondary causes, and a non-dilated left ventricle with preserved or increased ejection fraction. It is commonly asymmetric with most severe hypertrophy involving the basal interventricular septum.. The histologic features of HCM are myocyte hypertrophy and disarray, as well as interstitial fibrosis. The hypertrophy is associated with left ventricular diastolic dysfunction. Left ventricular outflow tract obstruction is present at rest in about one third of the patients, and can be provoked in another third. HCM is also an important cause of sudden cardiac death, particularly in adolescents and young adults. Nonsustained ventricular tachycardia, syncope, a family history of sudden cardiac death, and severe cardiac hypertrophy are major risk factors for sudden cardiac death.incidence being 30 % and the cause of cardiac death is LVOT obstruction,increased oxygen of thick myocardium with compromised coronary circulation and intractable ventricular tachycardia. Mutations in over a dozen genes encoding sarcomere-associated proteins cause HCM. MYH7 and MYBPC3, encoding β-myosin heavy chain and myosin binding protein C, respectively, are the two most common genes involved, together accounting for about 50% of the HCM families. Mutations in genes responsible for storage diseases cause a phenotype like HCM (genocopy or phenocopy). The routine applications of genetic testing and preclinical identification of family members represents an important advance. In genetic study HCM is associated with HLA DRW4

Prenatal screening of cytogenetic anomalies – a Western Indian experience

BACKGROUND: Children born with congenital anomalies present a very high rate of perinatal death and neonatal mortality. Cytogenetic analysis is a convincing investigation along with clinical suspicion and biochemical screening tests. The current study was designed to characterize the prevalence and types of chromosomal abnormalities in high risk prenatal samples using different cytogenetic techniques. METHODS: This study was conducted on a total of 1,728 prenatal samples (1,324 amniotic fluids, 366 chorionic villi and 38 cord blood samples) from 1994 to 2014 at Institute of Human Genetics, Ahmedabad, India. Conventional karyotyping was conducted with GTG-banding. Molecular approaches were used (fluorescence in situ hybridization = FISH and/ or array-comparative genomic hybridization = aCGH) when indicated to detect karyotypic abnormalities. RESULTS: Abnormal karyotypes were detected in 125/1,728 (7.2%) cases. Trisomy 21 was the most common abnormality detected in 46 (2.7%) followed by trisomy 18 in 11 (0.6%) and trisomy 13 in 2 (0.1%) samples. Besides, structural abnormalities such as reciprocal and Robertsonian translocation were detected in 20 [1.2%] cases. Turner syndrome was diagnosed in seven (0.4%) cases; in six (0.34%) cases there was an inversion in the Y-chromosome. Heteromorphic variants were diagnosed in 22 (1.3%) cases. Finally, small supernumerary marker chromosomes (sSMC) were found in six (0.34%) cases. CONCLUSION: Conventional GTG-banding along with molecular cytogenetic techniques is useful in detecting genomic alterations and rearrangements. Comprehensive characterization of chromosomal rearrangements like sSMC has the potential to save potentially healthy fetuses from being terminated

Reversible blindness associated with severe Diabetic Ketoacidosis

Diabetes mellitus is commonly associated with gradual onset of visual loss. Reversible acute blindness associated with diabetic ketoacidosis has been reported only once previously .Metformin associated blindness is common in type 2 diabetes patients but in type 1 diabetes patients gradual loss of vision is commonly due to proliferative diabetic retinopathy

Adolescent Idiopathic Scoliosis

How to cite this article Trivedi J. Adolescent Idiopathic Scoliosis. J Postgrad Med Edu Res 2017;51(2):58-67. </jats:sec