Nivedita Patni

YouTube As a Source of Information on the H1N1 Influenza Pandemic

BACKGROUND The ongoing H1N1 influenza pandemic has created a significant amount of health concern. Adequate dissemination of correct information about H1N1 influenza could help in decreasing the disease spread and associated anxiety in the population. PURPOSE This study aims to examine the effective use of the popular Internet video site YouTube as an information source during the initial phase of the H1N1 outbreak. METHODS YouTube was searched on June 26, 2009, using the keywords swine flu, H1N1 influenza, and influenza for videos uploaded in the past 3 months containing relevant information about the disease. The videos were classified as useful, misleading, or as news updates based on the kind of information contained. Total viewership, number of days since upload, total duration of videos, and source of upload were noted. RESULTS A total of 142 videos had relevant information about H1N1 influenza. In all, 61.3% of videos had useful information about the disease, whereas 23% were misleading. Total viewership share of useful videos was 70.5%, whereas that of misleading videos was 17.5%, with no significant difference in viewership/day. The CDC contributed about 12% of the useful videos, with a significant viewership share of 47%. No significant differences were seen in viewership/day for useful videos based on the kind of information they contained. CONCLUSIONS YouTube has a substantial amount of useful information about H1N1 influenza. A source-based preference is seen among the viewers, and CDC-uploaded videos are being used in an increasing proportion as a source of authentic information about the disease.

Congenital generalized lipodystrophies—new insights into metabolic dysfunction

Congenital generalized lipodystrophy (CGL) is a heterogeneous autosomal recessive disorder characterized by a near complete lack of adipose tissue from birth and, later in life, the development of metabolic complications, such as diabetes mellitus, hypertriglyceridaemia and hepatic steatosis. Four distinct subtypes of CGL exist: type 1 is associated with AGPAT2 mutations; type 2 is associated with BSCL2 mutations; type 3 is associated with CAV1 mutations; and type 4 is associated with PTRF mutations. The products of these genes have crucial roles in phospholipid and triglyceride synthesis, as well as in the formation of lipid droplets and caveolae within adipocytes. The predominant cause of metabolic complications in CGL is excess triglyceride accumulation in the liver and skeletal muscle owing to the inability to store triglycerides in adipose tissue. Profound hypoleptinaemia further exacerbates metabolic derangements by inducing a voracious appetite. Patients require psychological support, a low-fat diet, increased physical activity and cosmetic surgery. Aside from conventional therapy for hyperlipidaemia and diabetes mellitus, metreleptin replacement therapy can dramatically improve metabolic complications in patients with CGL. In this Review, we discuss the molecular genetic basis of CGL, the pathogenesis of the diseases metabolic complications and therapeutic options for patients with CGL.

Association of exclusive smokeless tobacco consumption with hypertension in an adult male rural population of India

IntroductionTobacco consumption is a major source of mortality and morbidity in India . Prevalence of smokeless tobacco (ST) consumption in India is around 20%. Studies have shown increased prevalence of cardiovascular disease risk factors and an increased incidence of adverse cardiovascular events among the ST consumers. This is a cross-sectional study done to look into the association of exclusive smokeless tobacco consumption with hypertension, in an adult male rural population of north India.MethodsAll male residents of a village in north India above 15 years of age, who did not have any acute or chronic morbidity were included after taking an informed consent. Subjects were interviewed regarding their demographic profile, socioeconomic status and tobacco consuming habits. Current smokeless tobacco user was defined as one who has ever consumed tobacco orally in past 1 month. Blood pressure of the subjects was also recorded. Cut offs used for systolic and diastolic hypertension were 140 mm hg and 90 mm Hg respectively.Results443 subjects were included in the study. Prevalence of exclusive ST users was 21% while 19.4% consumed both forms and 26.6% did not take any form of tobacco. Mean systolic and diastolic BP were significantly higher in exclusive ST users(systolic BP=139.2+17.4,diastolic BP = 86.8+11.5)as compared to the non users(systolic BP= 135.7+18.8 , diastolic BP= 82.6 +11.5; p value < 0.05). The prevalence of diastolic hypertension was significantly higher in exclusive ST users as compared to non users ( 40.9%, 22.9% ;p value = 0.01) . The OR for diastolic hypertension in male ST users was 2.3( 95% C.I. = 1.3-4.3). Prevalence of systolic hypertension was higher in exclusive ST users too though this was not statistically significant (43%,36.4%;p value = 0.39.).ConclusionST consumption is associated with increased prevalence of high BP in the adult male rural population.This is an indicator of increased predisposition to major adverse cardiac events later in their life time. Prevention of ST consumption could be an important intervention in preventing the ongoing upswing in prevalence of chronic heart disease.

Assessment of risk and prophylaxis for deep vein thrombosis and pulmonary embolism in medically ill patients during their early days of hospital stay at a tertiary care center in a developing country

Aim Deep vein thrombosis (DVT) and pulmonary thromboembolism (PE) are important causes of morbidity and mortality in medically ill patients. This study was done to assess risk factors and prophylaxis given for DVT and PE in newly admitted medically ill patients during the first two weeks of their hospital stay at a tertiary care center hospital in India. Methods All patients within one week of their admission in intensive care unit (ICU) and wards were enrolled in the study after an informed written consent. Patients who had DVT prophylaxis within the past month or any contraindications for DVT prophylaxis were excluded. A structured proforma was designed and effective risk stratification for DVT was done. Patients were followed for up to two weeks to record any changes in the risk categories and document any signs of PE or DVT if present. Any prophylaxis given for DVT or PE was noted. Results Seventy-five percent of patients had the highest risk for DVT and PE. Only 12.5% had DVT prophylaxis within the first two days of admission. Within two weeks of admission, 30.8% of patients were discharged, and 16.2% died. 72.6% of the patients still in the wards belonged to the highest risk category. Clinical signs and symptoms of DVT and PE were present in 25.8% and 9.8% of patients, respectively after the second week of admission. 86% of symptomatic patients belonged to the highest risk category initially and none of them received any prophylaxis. 21.6% of the highest risk category patients died within two weeks of their admission. A statistically significant correlation was found between mortality and risk score of the patients for DVT and between lack of prophylaxis and mortality (p < 0.05). Conclusion A significant risk for DVT and PE exists in medically ill patients, but only a small proportion of the patients are given prophylaxis. This study underlines the need to aggressively implement DVT risk stratification strategy in medical patients and provide prophylaxis unless contraindicated.

Elevated α-fetoprotein levels in Van Wyk-Grumbach syndrome: a case report and review of literature

Abstract The association between primary hypothyroidism and precocious puberty secondary to ovarian hyperstimulation has been recognized for over a century. Here, we report the case of a 9-year-old girl with severe primary hypothyroidism, who presented with premature menarche, enlarged pituitary gland, enlarged ovaries with multiple cysts, and elevated prolactin and α-feto protein levels. Pituitary and ovarian radiology findings, and α-feto protein levels normalized a few weeks after hypothyroidism treatment was started. Reviewing the literature we found several reports of increased levels of tumor markers in girls with this association. Thyroid function tests should be always part of the evaluation of patients with precocious puberty especially if the bone age is delayed. Tumor markers and liver function tests may be abnormal in patients with severe hypothyroidism and improve soon after thyroid hormone replacement is started.

A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation

Background Lamin A/C (LMNA) gene mutations cause a heterogeneous group of progeroid disorders, including Hutchinson-Gilford progeria syndrome, mandibuloacral dysplasia, and atypical progeroid syndrome (APS). Five of the 31 previously reported patients with APS harbored a recurrent de novo heterozygous LMNA p.T10I mutation. All five had generalized lipodystrophy, as well as similar metabolic and clinical features, suggesting a distinct progeroid syndrome. Methods We report nine new patients and follow-up of two previously reported patients with the heterozygous LMNA p.T10I mutation and compare their clinical and metabolic features with other patients with APS. Results Compared with other patients with APS, those with the heterozygous LMNA p.T10I mutation were younger in age but had increased prevalence of generalized lipodystrophy, diabetes mellitus, acanthosis nigricans, hypertriglyceridemia, and hepatomegaly, together with higher fasting serum insulin and triglyceride levels and lower serum leptin and high-density lipoprotein cholesterol levels. Prominent clinical features included mottled skin pigmentation, joint contractures, and cardiomyopathy resulting in cardiac transplants in three patients at ages 13, 33, and 47 years. Seven patients received metreleptin therapy for 0.5 to 16 years with all, except one noncompliant patient, showing marked improvement in metabolic complications. Conclusions Patients with the heterozygous LMNA p.T10I mutation have distinct clinical features and significantly worse metabolic complications compared with other patients with APS as well as patients with Hutchinson-Gilford progeria syndrome. We propose that they be recognized as having generalized lipodystrophy-associated progeroid syndrome. Patients with generalized lipodystrophy-associated progeroid syndrome should undergo careful multisystem assessment at onset and yearly metabolic and cardiac evaluation, as hyperglycemia, hypertriglyceridemia, hepatic steatosis, and cardiomyopathy are the major contributors to morbidity and mortality.

Worsening hypertriglyceridemia with oral contraceptive pills in an adolescent with HIV- associated lipodystrophy: a case report and review of the literature

Abstract We report a case of a 17-year-old girl with a history of congenital human immunodeficiency virus (HIV) infection and lipodystrophy secondary to highly active antiretroviral therapy (HAART). She developed severe worsening of preexisting hypertriglyceridemia after treatment with oral contraceptive pills (OCP) for polycystic ovary syndrome. Her hypertriglyceridemia improved upon OCP discontinuation. Although it is known that estrogen combined with progestins have a negative effect on triglycerides and high-density lipoprotein (HDL) cholesterol levels, to our knowledge the association of HAART-related lipodystrophy and severe hypertriglyceridemia after OCP use has not been reported in the literature. We recommend avoiding the use of OCPs in patients with lipodystrophy due to the increased risk of worsening hypertriglyceridemia.

Juvenile-onset generalized lipodystrophy due to a novel heterozygous missense LMNA mutation affecting lamin C

The LMNA gene contains 12 exons and encodes lamins A and C by alternative splicing within exon 10. While mutations in lamin A specific residues cause several diseases including lipodystrophy, progeria, muscular dystrophy, neuropathy, and cardiomyopathy, only three families with mutations in lamin C‐specific residues are reported with cardiomyopathy, neuropathy, and muscular dystrophy so far. We now report two brothers with juvenile‐onset generalized lipodystrophy due to a lamin C‐specific mutation. The proband, a 23‐year‐old Caucasian male was reported to have generalized lipodystrophy at 3 weeks of age, developed diabetes, hypertriglyceridemia, hypertension and liver problems and died with complications of cirrhosis, and kidney failure. His younger brother, a 37‐year‐old Caucasian male developed generalized lipodystrophy around 2 years of age and was diagnosed with diabetes, hypertriglyceridemia, fatty liver, and hypertension at 36 years of age. Their father also died of end stage renal disease at age 52 years. Exome sequencing of the proband revealed an extremely rare missense heterozygous variant c.1711_1712CG>TC; p.(Arg571Ser) in LMNA which was confirmed by Sanger sequencing in both the patients. Interestingly, the mutation had no effect on mRNA splicing or relative expression of lamin A or C mRNA and protein in the lymphoblasts. Our observations suggest that mutant lamin C disrupts its interaction with other cellular proteins resulting in generalized lipodystrophy due to defective development and maintenance of adipose tissue.