Diffuse hepatic haemangiomatosis: A case report and review of literature.

Hepatic haemangioma is a solitary liver lesion and prevalent among the female patients. We report a case of diffuse hepatic haemangiomatosis in a 62-year-old man, who was referred for an incidental finding of multiple liver nodules. History and physical examinations were unremarkable. Computed tomography and magnetic resonance imaging of the liver were performed and showed multiple haemangiomatosis. In view of the rarity of this condition in men, a liver biopsy was done and confirmed haemangiomas. Available published literature on diffuse hepatic haemangiomatosis was reviewed.

Association of angiotensinogen gene SNPs and haplotypes with risk of hypertension in eastern Indian population.

BACKGROUND: Angiotensinogen (AGT) enzyme comprises a vital module of RAAS system that effectively controls the blood pressure and related cardiovascular functions. Ample association studies have reported the importance of AGT variants in cardiovascular and non-cardiovascular adversities. But lately, owing to the complexity of the many anomalies, the haplotype based examination of genetic variation that facilitates the identification of polymorphic sites which are located in the vicinity of the causative polymorphic site, gets greater appreciation. METHODS: In the present study, we have done genotype and haplotype analysis of AGT gene in reference to hypertension to confirm the association of the two in an Indian population. To accomplish this, we performed candidate SNPs analysis and construct possible haplotypes across the AGT promoter and gene region in 414 subjects (256 Hypertensive cases and 158 controls). RESULTS: We found four SNPs (rs11568020: A-152G and rs5050: A-20C in promoter; rs4762 and rs699 in exon2) and 3 haplotypes (H4, H7 and H8) that showed a stronger positive association with hypertension. The haplotype H2 was showing protective association with hypertension. CONCLUSION: The results of the present study confirmed and reestablished the role of AGT gene variants and their haplotypes in the causation of hypertension in Indian population and showed that haplotypes can provide stronger evidence of association.

Conventional versus Doxorubicin-Eluting Beads Transarterial Chemoembolization for Unresectable Hepatocellular Carcinoma: a Tertiary Medical Centre Experience in Malaysia.

BACKGROUND: Hepatocellular carcinoma (HCC) is a common cancer that is frequently diagnosed at an advanced stage. Transarterial chemoembolisation (TACE) is an effective palliative treatment for patients who are not eligible for curative treatment. The two main methods for performing TACE are conventional (c-TACE) or with drug eluting beads (DEB-TACE). We sought to compare survival rates and tumour response between patients undergoing c-TACE and DEB-TACE at our centre. MATERIALS AND METHODS: A retrospective cohort study of patients undergoing either treatment was carried out from January 2009 to December 2014. Tumour response to the procedures was evaluated according to the modified Response Evaluation Criteria in Solid Tumors (mRECIST). Kaplan-Meier analysis was used to assess and compare the overall survival in the two groups. RESULTS: A total of 79 patients were analysed (34 had c-TACE, 45 had DEB-TACE) with a median follow-up of 11.8 months. A total of 20 patients in the c-TACE group (80%) and 12 patients in the DEB-TACE group (44%) died during the follow up period. The median survival durations in the c-TACE and DEB-TACE groups were 4.9 ± 3.2 months and 8.3 ± 2.0 months respectively (p=0.008). There was no statistically significant difference noted among the two groups with respect to mRECIST criteria. CONCLUSIONS: DEB-TACE demonstrated a significant improvement in overall survival rates for patients with unresectable HCC when compared to c-TACE. It is a safe and promising approach and should potentially be considered as a standard of care in the management of unresectable HCC.

Testicular histomorphologic and stereological alterations following short-term treatment with highly active antiretroviral drugs (HAART) in an experimental animal model.

The increased accessibility of antiretroviral therapy continues to positively drive the reduction in viral load and survival of patients despite the attendant reproductive toxicities. We propose that testicular damage caused by highly active antiretroviral therapy (HAART) can be attenuated by antioxidant treatment by investigating the testicular histomorphologic and stereological effects of antiretroviral drugs and its interaction with antioxidants using an experimental animal model. Sprague-Dawley rats were divided into seven groups of six rats per group (A, B... G) using simple random sampling and treated orally with 0.9% normal saline as placebo, a HAART cocktail of stavudine, lamivudine and nevirapine using the adjusted human therapeutic doses of 200, 600 and 350-400 mg/day, respectively, and antioxidants ascorbic acid (vitamin C) and I.M α-tocopherol (vitamin E). Animals were killed after 4 weeks and testicular tissue harvested and processed for light microscopy and stereological evaluations. The results were interpreted by a Veterinary pathologist blinded to the study. No animal died during the experimental period. The histopathological assessment of the testis of animals treated with placebo, ascorbic acid alone and α-tocopherol alone as well as vitamin E + HAART displayed normal testicular microanatomy. Groups treated with HAART alone, HAART + vitamin C + vitamin E and vitamins C + HAART showed extensive seminiferous tubular atrophy, necrosis and hypocellularity in the histoarchitectural patterns. While testicular cross-sectional area of seminiferous tubules remained unaffected by HAART, epithelial heights significantly decreased (p < 0.05) when compared with controls. There was marked (p < 0.05) increased in testicular-body weight ratio in HAART group. The results show that vitamin E could be useful in protecting testicular tissue from toxicities of HAART regimes as these results mirrors stereological data for the groups. HAART presents with deleterious histopathological changes in the testes causing tubular atrophy with altered morphometric indices. Supplementation with vitamin E appears to be a better adjuvant antioxidant that ameliorates these deleterious effects.

Partial empty sella syndrome: a case report and review.

Empty sella syndrome is a damaged pituitary gland. Either the gland has shrunk or has been crushed and flattened making it look like an empty sella on MRI scan. The reported prevalence of primary empty sella in general population is 8-35 %. The incidence is more in females, the ratio being 5:1. It is generally found in middle aged women who are obese and hypertensive.

Vitamin d deficiency and insulin resistance in normal and type 2 diabetes subjects.

Vitamin D is recognized to serve a wide range of biological functions. The presence of vitamin D receptors on different tissues explains it's diversity of actions. Reduced levels of vitamin D is associated with insulin resistance and increased diabetes risk. The study included 50 normal healthy individuals and 49 type 2 diabetes subjects. Fasting blood glucose, total cholesterol, triglycerides, HDLc, fasting insulin, parathyroid hormone, calcium, albumin and Homeostasis model for assessment of insulin resistance (HOMAIR) were measured in all the study participants. Type 2 diabetes subjects were divided into group 1 with 25 hydroxy vitamin D (25(OH)D) ≤20 ng/ml and group 2 with 25(OH)D >20 ng/ml. By the results of this study, the mean 25(OH)D level was low (20.09 ng/ml) in type 2 diabetes compared to controls (23.89 ng/ml) and the p value was 0.02. The estimated insulin resistance by HOMAIR was more in group 1 than in group 2 of diabetes with p value of 0.037. The Pearson's correlation-coefficient was negative for 25(OH)D and insulin in type 2 diabetes (r = -0.294), 25(OH)D was negatively correlated with HOMAIR in total subjects. Type 2 diabetes subjects had reduced levels of vitamin D than normal individuals. The insulin resistance was more in vitamin D deficiency state. Hence vitamin D has a role in glucose metabolism, deficiency can result in insulin resistance and diabetes.

Association of TNF-α with insulin resistance in type 2 diabetes mellitus.

BACKGROUND & OBJECTIVES: TNF-α is an adipocytokine that has been implicated in the development of insulin resistance. Dysregulation of TNF-α production has been implicated in a variety of human diseases including type 2 diabetes mellitus. We aimed to find out the association of TNF-α levels with insulin resistance, body mass index and waist hip ratio; and to elicit its role with respect to duration of the disease, if any. METHODS: 50 type-2 diabetic patients attending Narayana Medical Hospital, Nellore, were studied. Body mass index and Waist hip ratio were calculated. Homeostasis model assessment method was used to calculate insulin resistance (HOMA IR) and per cent ß cell function (HOMA B). Insulin was estimated by chemiluminescence method and TNF-α by ELISA method. The subjects were arbitrarily categorized into three groups based on duration of diabetes. Group 1 included subjects with diabetes of less than 5 yr duration, group 2 included diabetics of 6-10 yr duration and group 3 greater than 10 yr duration. RESULTS: Our study revealed a significant correlation between TNF-α levels and BMI (P=0.006), the correlation being stronger in males when compared to females. A significant correlation was found between per cent ß cell function and TNF-α (P=0.008). TNF-α correlated significantly with HOMA IR, HOMA B and insulin, in group 2 diabetes. INTERPRETATION & CONCLUSIONS: Our results suggest the possible role of TNF-α in the pathogenesis of type-2 diabetes mellitus and the importance of reducing obesity to prevent elevated levels of the cytokine and related complications.

Zygomycosis caused by Rhizopus microsporus and Rhizopus oryzae in Madhya Pradesh (M.P.) Central India: a report of two cases.

Zygomycosis encompasses infections due to two distinct orders of fungi, Mucorales and Entomophthorales. With rare exception, Entomophthorales are restricted to tropical areas. By contrast, mucorales are ubiquitous opportunistic fungi, which play a crucial part in the natural decay process. In human pathology, they may be opportunistic agents and be responsible for rare infection called (Mucormycosis) zygomycosis. We report two cases of zygomycosis from Madhya Pradesh, Central India, one caused by Rhizopus oryzae in a diabetic patient and another caused by Rhizopus microsporus in an apparently healthy patient. The cases were diagnosed by direct microscopy, histopathological examination and culture. Both the patients were successfully treated with liposomal amphotericin B. Rhizopus microsporus is, for the first time reported from Madhya Pradesh, India, causing rhino-maxillary orbital zygomycosis.

Seasonal prevalence of Cryptococcus neoformans var. grubii and Cryptococcus gattii inhabiting Eucalyptus terreticornis and Eucalyptus camaldulensis trees in Jabalpur City of Madhya Pradesh, Central India.

This study presents a two-year retrospective analysis of the work done during 2003-2005 on the distribution population density and isolation frequency of Cryptococcus neoformans var. grubii and Cryptococcus gattii recovered from different parts of Eucalyptus tree spp., at Jabalpur Madhya Pradesh, Central India. Of the 1000 samples collected from bark, flowers, fruits, buds and leaves of Eucalyptus trees E. terreticornis and E. camaldulensis, 32 (3.2%) were found to be positive for C.n var. grubii and 28 (2.8%) for C. gattii respectively. While both the pathogens were isolated through all the seasons, no significant difference was found in prevalence of the two species (P>0.05) from different Eucalyptus tree samples. For C. neoformans var. grubii the highest isolation frequency of the pathogen was in spring followed by autumn, summer, winter and rainy season. For C. gattii, highest isolation frequency of the pathogen was in summer, followed by autumn, spring, winter and rainy season. Significant difference was seen in the isolation frequency of C. neoformans var. grubii and C. gattii during autumn and rainy season (P<0.01), spring and rainy season (P<0.001) and summer and rainy season (P<0.001). Population density and isolation frequency of the both pathogens were significantly lower in rainy season. Bark of the Eucalyptus tree yielded the highest frequency of C. neoformans var. grubii followed by flower, fruits, buds and debris. Trees located in the densely populated area of the city yielded highest frequency of the pathogens followed by trees located in sparsely populated area on the outskirt of the city and areas near the river Narmada. Further comprehensive study is suggested to assess the overall impact of seasonal prevalence in the isolation frequency and population density of both the pathogens and their clinical significance across climatically divergent region of India.

End stage renal disease, differential diagnosis, a rare genetic disorder: bardet-biedl syndrome: case report and review.

End stage renal disease (ESRD) represents a clinical condition in which there is an irreversible loss of endogenous renal function. Both structural and functional abnormalities of the kidney are associated with increased morbidity, mortality. Bardet-Biedel syndrome (BBS) is one of the rare genetic disorders with prevalence of 1 in 1, 40,000-1 in 1,60,000 worldwide. ESRD in BBS patients is the final stage of the disease, increasing mortality in youth.

Chronic energy deficiency in some low socio-economic populations from South India: relationships between body mass index, waist-hip ratio and conicity index.

This paper reports the prevalence of chronic energy deficiency (CED) based on body mass index (BMI) and its relation to other adiposity measures namely, waist-hip ratio (WHR) and conicity index (CI) in some low socio-economic groups from South India. Two ethnic groups from each area type, namely, tribal, rural and urban areas, are included and samples of 646 men and 670 women belonging to six groups are selected on a multistage basis. Based on the measurements, BMI, WHR and CI are calculated. A considerable proportion of populations studied here experience CED. A higher proportion of women than men show CED. The BMI and WHR are slightly higher among men and WHR exhibits significant intersex difference. The CI is in expected ranges and all ethnic groups differ from each other in all measurements and indices. Age is strongly correlated with WHR and CI, but not with BMI. Both WHR and CI are influenced by BMI. BMI and sex are found to be significant contributors to the variation in WHR, and ethnicity also added to the variation in CI. The present study also concludes that adult malnutrition (as indicated by BMI) is spread to a considerable extent in these populations of low socio-economic status. It appears that the ethnic differences occurring in several measurements/indices reflect the economic and social conditions.

Ecological niche of Cryptococcus neoformans var. grubii and Cryptococcus gattii in decaying wood of trunk hollows of living trees in Jabalpur City of Central India.

Cryptococcus neoformans var. grubii and C. gattii were repeatedly isolated from decaying wood of trunk hollows in living trees growing in Jabalpur City in Central India. The isolation of C. gattii has been reported from decayed wood inside trunk hollow of Tamarindus indica (15.6%), Mangifera indica (2.2%), Pithecolobium dulce (12.5%), Syzygium cumini (14%), and one from bark of S. cumini. C. n. var. grubii was isolated from decaying wood debris of T. indica (4.4%), M. indica (13.3%), Terminalia arjuna (25%), S. cumini (2%), Cassia fistula (4.5%), and two from bark of S. cumini. The two species [corrected] never co-occurred in the same hollow. C. gattii [corrected] isolates belonged to serotype B. [corrected] The data strongly supported the colonization of the pathogen in decaying wood hollow of all six-tree species. Evidence of this was found by repeated isolation up to 820 days. P. dulce is being reported for the first time as natural habitat of C. gattii and T. arjuna and C. fistula as natural habitat for C. n. var. grubii. M. indica is being reported for the second time as the natural habitat of both species [corrected] (C. n. var. grubii and C. gattii). The population density of these pathogens from decaying wood debris of various tree species ranged between 0.5 x 10(3) cells/g and 6 x 10(5) cells/g. The seasonal variation has been seen in isolation of these pathogens. [corrected] Our result further reinforce the recently emerging evidence that the natural habitat of C. n. var. grubii and C. gattii is more generalized.

First case of cryptococcosis in a new species of bandicoot (Bandicota indica) caused by Cryptococcus neoformans var. grubii.

The first case of cryptococcosis caused by Cryptococcus neoformans var. grubii in a new species of bandicoot (Bandicota indica) is described. The animal was trapped in a bamboo thicket in a park located in the city of Jabalpur, India. On necropsy, pathological lesions were seen in the lungs and liver and C. neoformans var. grubii was isolated from the lungs, liver, kidneys, spleen and brain but not the heart or intestine. The soil of the animal's burrow and bamboo debris around it also revealed the presence of C. neoformans var. grubii. We hypothesize that the bandicoots may potentially act as sentinel animals for environmental human pathogenic Cryptococcus species.

Diversity and divergence among the tribal populations of India.

Tribal populations of the Indian subcontinent have been of longstanding interest to anthropologists and human geneticists. To investigate the relationship of Indian tribes to Indian castes and continental populations, we analyzed 45 unlinked autosomal STR loci in 9 tribal groups, 8 castes, and 18 populations from Africa, Europe and East Asia. South Indian tribal populations demonstrate low within-population heterozygosity (range: 0.54 - 0.69), while tribal populations sampled further north and east have higher heterozygosity (range: 0.69 - 0.74). Genetic distance estimates show that tribal Indians are more closely related to caste Indians than to other major groups. Between-tribe differentiation is high and exceeds that for eight sub-Saharan African populations (4.8% vs. 3.7%). Telugu-speaking populations are less differentiated than non-Telugu speakers (F(ST): 0.029 vs. 0.079), but geographic distance was not predictive of genetic affinity between tribes. South Indian tribes show significant population structure, and individuals can be clustered statistically into groups that correspond with their tribal affiliation. These results are consistent with high levels of genetic drift and isolation in Indian tribal populations, particularly those of South India, and they imply that these populations may be potential candidates for linkage disequilibrium and association mapping.

Blood pressure levels among cross-cultural populations of Visakhapatnam district, Andhra Pradesh, India.

BACKGROUND: Elevated blood pressure is a leading cause of morbidity and mortality throughout the world, as a major contributor to cardiovascular diseases. Blood pressure tends to vary cross-culturally and studies to address the influence of acculturization/modernization on blood pressure are limited from India, particularly from Andhra Pradesh. AIM: To provide information on blood pressure levels and variability across population groups from the State of Andhra Pradesh, India, and to examine the influence of acculturization/modernization on blood pressure levels. SUBJECTS AND METHODS: The blood pressure levels among 1316 individuals (646 men and 670 women) belonging to two tribal (Khondh and Valmiki) and two caste groups (Wadabalija and Settibalija) from rural and urban areas from Andhra Pradesh were collected. Analysis of covariance (ANCOVA) was used to examine the effect of age and sex, and population differences. RESULTS: The distribution of blood pressure showed significant variability among these population groups. Higher levels of blood pressure were noticed in an acculturizing tribe, the Valmiki, than among the Khondh, a traditional tribal population. The results indicate that age had significant effect on both systolic and diastolic blood pressure levels. Also, the systolic blood pressure was relatively more sensitive than diastolic blood pressure to the effect of age. The sex did not contribute significantly to the variability of blood pressure. CONCLUSIONS: The study revealed significant population differences in the variability of blood pressure, with higher levels among acculturizing tribal population than the non-acculturizing group. But no significant variation was noticed between rural and urban slum dwellers. Age had a significant effect on blood pressure levels.

Finger ridge count correlations among four tribes of Andhra Pradesh, India.

The present paper reports the distribution of finger ridge count correlations among four tribal populations from Andhra Pradesh, India viz., Dulia, Kotia, Manne Dora and Manzai Mali, and examines the intra and inter population variation. Higher correlations are recorded in left hands compared to right hands, but they are not significant. The homologous fingers exhibit a stronger correlation. In all the tribes, the correlations between right hand fingers are relatively higher among women when compared to men. Regarding inter population variation Dulia men differ significantly from the men of Manne Dora and the Manzai Mali tribes, and Kotia women also differ from the women of the Manne Dora significantly. The average correlation coefficient of the present populations is similar to other Indian populations reported earlier but lower than African and European populations.

Gene flow from the Indian subcontinent to Australia: evidence from the Y chromosome.

Phenotypic similarities between Australian Aboriginal People and some tribes of India were noted by T.H. Huxley during the voyage of the Rattlesnake (1846-1850). Anthropometric studies by Birdsell led to his suggestion that a migratory wave into Australia included populations with affinities to tribal Indians. Genetic evidence for an Indian contribution to the Australian gene pool is contradictory; most studies of autosomal markers have not supported this hypothesis (; and references therein). On the other hand, affinities between Australian Aboriginal People and southern Indians were suggested based on maternally inherited mitochondrial DNA. Here, we show additional DNA evidence in support of Huxley's hypothesis of an Indian-Australian connection using single-nucleotide polymorphisms (SNPs) and short tandem repeats (STRs) on the nonrecombining portion of the Y chromosome (NRY). Phylogenetic analyses of STR variation associated with a major Australian SNP lineage indicated tight clustering with southern Indian/Sri Lankan Y chromosomes. Estimates of the divergence time for these Indian and Australian chromosomes overlap with important changes in the archaeological and linguistic records in Australia. These results provide strong evidence for an influx of Y chromosomes from the Indian subcontinent to Australia that may have occurred during the Holocene.

Genetic evidence on the origins of Indian caste populations.

The origins and affinities of the approximately 1 billion people living on the subcontinent of India have long been contested. This is owing, in part, to the many different waves of immigrants that have influenced the genetic structure of India. In the most recent of these waves, Indo-European-speaking people from West Eurasia entered India from the Northwest and diffused throughout the subcontinent. They purportedly admixed with or displaced indigenous Dravidic-speaking populations. Subsequently they may have established the Hindu caste system and placed themselves primarily in castes of higher rank. To explore the impact of West Eurasians on contemporary Indian caste populations, we compared mtDNA (400 bp of hypervariable region 1 and 14 restriction site polymorphisms) and Y-chromosome (20 biallelic polymorphisms and 5 short tandem repeats) variation in approximately 265 males from eight castes of different rank to approximately 750 Africans, Asians, Europeans, and other Indians. For maternally inherited mtDNA, each caste is most similar to Asians. However, 20%-30% of Indian mtDNA haplotypes belong to West Eurasian haplogroups, and the frequency of these haplotypes is proportional to caste rank, the highest frequency of West Eurasian haplotypes being found in the upper castes. In contrast, for paternally inherited Y-chromosome variation each caste is more similar to Europeans than to Asians. Moreover, the affinity to Europeans is proportionate to caste rank, the upper castes being most similar to Europeans, particularly East Europeans. These findings are consistent with greater West Eurasian male admixture with castes of higher rank. Nevertheless, the mitochondrial genome and the Y chromosome each represents only a single haploid locus and is more susceptible to large stochastic variation, bottlenecks, and selective sweeps. Thus, to increase the power of our analysis, we assayed 40 independent, biparentally inherited autosomal loci (1 LINE-1 and 39 Alu elements) in all of the caste and continental populations (approximately 600 individuals). Analysis of these data demonstrated that the upper castes have a higher affinity to Europeans than to Asians, and the upper castes are significantly more similar to Europeans than are the lower castes. Collectively, all five datasets show a trend toward upper castes being more similar to Europeans, whereas lower castes are more similar to Asians. We conclude that Indian castes are most likely to be of proto-Asian origin with West Eurasian admixture resulting in rank-related and sex-specific differences in the genetic affinities of castes to Asians and Europeans.

Asymmetry of finger ridge counts among four tribal populations of Andhra Pradesh, India.

The asymmetry among the four tribal populations Dulia, Kotia, Manne Dora and Manzai Mali is reported. The mean directional asymmetry (MDA) and mean absolute asymmetry (MAA) were measured for homologous fingers. The asymmetry follows a decreasing trend in radio-ulnar direction with higher mean values in thumb and index finger. The individual variation is also higher in these fingers. Neither sexual nor population differences are consistent. Jantz's Square root of A2 (another measure to assess asymmetry) for total finger ridge count and absolute finger ridge count does not indicate any significant sexual or ethnic differences. The results suggest that the underlying mechanisms influencing the level of asymmetry may be similar for all groups, and that certain dermatoglyphic areas like the thumb are more vulnerable to developmental/environmental stress, that cause asymmetry at the developmental stage.