A Study on the Candidate Gene Association and Interaction with Measures of UV Exposure in Pseudoexfoliation Patients from India.

PURPOSE: Environmental and genetic factors are associated with development of Pseudoexfoliation syndrome (XFS). Here we intended to elucidate the association of candidate genes in relevance to UV exposure in these patients. METHODS: This is a case-control study of 309 subjects (N = 219 controls and 90 XFS cases) from India. PCR based direct sequencing was performed for candidate genes (LOXL1, POMP and TMEM136) followed by genotype and haplotype analysis. The promoter methylation status was assessed by Methylation specific PCR based direct sequencing of genomic DNA for all samples. The methylation status was compared with that of primary fibroblasts cultures established from patient's Tenon's tissue samples in subset of these patients. RESULTS: SNPs rs3825942, rs41435250, rs8818 (LOXL1) and rs3737528 (POMP) showed significant association with XFS. LOXL1 gene haplotype GAGC (rs1048661- rs3825942- rs41435250-rs8818) was associated with lower risk for XFS with a p value 4.1961 × 10-6 (OR =0; 95%CI, 0.000-0.003). POMP gene haplotypes for intronic SNPs (rs1340815- rs3737528- rs913797) TCC and TTC were associated with increased risk for the disease (OR > 1.0). Significant correlation for SNPs rs3825942 of LOXL1 (ρ= -0.132) and rs3737528 of POMP (ρ = 0.12) was observed with measure of lifetime UV exposure (CUVAF value). Reduced LOXL1 gene expression was observed in cultured tenon fibroblasts from the patients that correlated with differential methylation of the Sp-1 binding sites at -253, -243bp upstream to the transcription start site of LOXL1 promoter region. CONCLUSION: Our results suggest a possible interaction for LOXL1 gene haplotype (GAGC) with the measure of ocular UV exposure in pseudoexfoliation syndrome.

Uncombable Hair in a Case of Zellweger Syndrome - A New Association.

Zellweger syndrome (ZS) is a rare autosomal recessive, peroxisomal biogenesis disorder (PBD) that occurs due to a mutation in any of the thirteen peroxin (PEX) genes. It is reported to manifest with varying degrees of severity, ranging from non-specific gastrointestinal abnormalities, nail and enamel defects to multisystem involvement (cerebro-hepato-renal syndrome, eye, ear, and neurological abnormalities). Uncombable hair syndrome (UHS) is a rare hair shaft disorder characterized by dry, frizzy, unmanageable hair. Diagnosis of UHS can be confirmed by scanning electron microscopy (SEM), which reveals a triangular cross-section of the hair. We report a case of UHS with a hitherto unreported association of ZS (due to a homozygous mutation of PEX 12).

Lacunae in Laboratory Medicine Services and in Pathology Education in Medical Schools in India.

CONTEXT.­: Laboratories of many medical college hospitals in India do not offer important diagnostic tests, most of which are routine in the West. This detracts from the service as well as the educational function of the college. OBJECTIVES.­: To provide the background to pathology and laboratory medicine services and education in India, and to create a questionnaire that will put the lack of tertiary care laboratory services in perspective. This article will help illustrate the lacunae in laboratory medicine services and in the education of students. For this, we present information on the health services and pathology education facilities in India. We propose a questionnaire comprising 30 questions in various disciplines in pathology and laboratory medicine. These questions will help administrators and bureaucrats evaluate the status of the laboratories with respect to the services provided. DATA SOURCES.­: Sources include Web sites of the government of India, including that of the National Accreditation Board for Testing and Calibration Laboratories; indexed medical journal articles; and standard books and white papers on health care in India. We also used our personal experiences and interpretations of the laboratory and medical education sector in India. CONCLUSIONS.­: Medical colleges in India need to offer specialized diagnostic services if they are to achieve the targets of universal health care as well as turning out competent doctors. The agencies responsible for health care in India should use the questionnaire as a first step toward improving laboratory services. Other low- and middle-income countries should also adopt this method.

Prevalence of Arrested Caries in Three Areas of South India with Different Groundwater Fluoride Levels: An Epidemiological Study.

Background: Dental caries, though a progressive disease, if intervened early may become arrested, provided there is a change in the oral environment. One such factor which may lead to caries arrest is prolonged exposure to naturally available groundwater fluoride. Aim: The aim of the study is to know the prevalence of arrested caries in three geographical areas with different levels of fluoride in groundwater and to attribute if there is any correlation between the natural high fluoride levels in groundwater and the prevalence of arrested caries. Design: A cross-sectional study is conducted on schoolchildren residing in three geographical areas of south India with high, moderate, and low groundwater fluoride levels. A total of 5,982 children, from all the three regions between the age-groups 5-9 years, are examined and 1,514 children with caries are included in the study. The teeth and surfaces with active and arrested caries are identified and recorded in a structured pro forma. All the data obtained was tabulated and subjected to statistical analysis. Results: The prevalence of arrested carious lesions is found to be significantly higher in areas with high groundwater fluoride level when compared to the other two areas. Conclusion: It can be concluded that the progression of caries in children residing in areas with high groundwater fluoride level is slow and gets arrested early in the presence of a high amount of fluoride. How to cite this article: Mudusu SP, Jampanapally SR, Konda S, et al. Prevalence of Arrested Caries in Three Areas of South India with Different Groundwater Fluoride Levels: An Epidemiological Study. Int J Clin Pediatr Dent 2022;15(S-2):S186-S190.

Non-Hodgkin's lymphoma with extensive emperipolesis mimicking Rosai-Dorfman disease: A rare case report.

Emperipolesis is the hallmark finding for Rosai-Dorfman disease. Till now many studies in literatures have shown emperipolesis as a finding in other benign as well as malignant conditions. Very few cases of malignant lymphoma have this phenomenon. Herewith, we put forward a rare case of lymphoma with clinical presentation showing involvement of spleen, liver, lymph nodes as well as lleo-cecal region. Light microscopy revealed large to medium sized lymphoid cells with intervening plenty of histiocytes showing evidence of emperipolesis that mimics Rosai Dorfmann disease. Due to atypical clinical presentations we thought of lymphoma as a differential diagnosis. Further immunohistochemistry was performed using histiocytic as well as lymphoid markers. To our surprise, it turns out to be Non Hodgkin Lymphoma with extensive emperipolesis which is extremely rare in thorough literature search. This case is presented due to its unique clinical as well as histological presentations.

Persistent Mullerian Duct Syndrome with Testicular Seminoma in Transverse Testicular Ectopia.

Persistent Mullerian Duct Syndrome (PMDS) is a disorder of male pseudohermaphroditism characterized by the persistence of Mullerian duct derivatives (uterus, fallopian tubes, and upper two-third of vagina) in a phenotypically and genotypically male. Transverse testicular ectopia (TTE) is a rare congenital anomaly in which both gonads migrate toward same hemiscrotum. About 150 cases of PMDS and 100 cases of TTE have been reported in previous studies. Testicular tumor in patients with PMDS with TTE is very rare. We report a case of testicular seminoma in a 35-year-old male patient with PMDS and TTE. Preoperative diagnosis was not possible in most of the reported cases.

Application and Comparative Evaluation of Fluorescent Antibody, Immunohistochemistry and Reverse Transcription Polymerase Chain Reaction Tests for the Detection of Rabies Virus Antigen or Nucleic Acid in Brain Samples of Animals Suspected of Rabies in India.

Accurate and early diagnosis of animal rabies is critical for undertaking public health measures. Whereas the direct fluorescent antibody (DFA) technique is the recommended test, the more convenient, direct rapid immunochemistry test (dRIT), as well as the more sensitive, reverse transcription polymerase chain reaction (RT-PCR), have recently been employed for the laboratory diagnosis of rabies. We compared the three methods on brain samples from domestic (dog, cat, cattle, buffalo, horse, pig and goat) and wild (leopard, wolf and jackal) animals from various parts of India. Of the 257 samples tested, 167 were positive by all the three tests; in addition, 35 of the 36 decomposed samples were positive by RT-PCR. This is the first study in which such large number of animal samples have been subjected to the three tests simultaneously. The results confirm 100% corroboration between DFA and dRIT, buttress the applicability of dRIT in the simple and rapid diagnosis of rabies in animals, and reaffirm the suitability of RT-PCR for samples unfit for testing either by DFA or dRIT.

Isolation, Biochemical and Molecular Identification, and In-Vitro Antimicrobial Resistance Patterns of Bacteria Isolated from Bubaline Subclinical Mastitis in South India.

Buffaloes are the second largest source of milk. Mastitis is a major impediment for milk production, but not much information is available about bubaline mastitis, especially subclinical mastitis. The aim of this study was to (a) investigate the application of various tests for the diagnosis of bubaline subclinical mastitis, (b) identify the major bacteria associated with it, and (c) evaluate the antibiotic resistance pattern of the bacteria. To this end, 190 quarter milk samples were collected from 57 domesticated dairy buffaloes from organized (64 samples) and unorganized (126 samples) sectors. Of these, 48.4%, 40.0%, 45.8%, 61.1%, and 61.6% were positive for subclinical mastitis by somatic cell count, electrical conductivity, California mastitis test, bromothymol blue test, and N-acetyl glucosaminidase test, respectively. As compared to the gold standard of somatic cell count, California mastitis test performed the best. However, a combination of the two methods was found to be the best option. Microbiological evaluation, both by biochemical methods as well as by monoplex and multiplex polymerase chain reaction, revealed that coagulase-negative staphylococci were the most predominant (64.8%) bacteria, followed by streptococci (18.1%), Escherichia coli (9.8%) and Staphylococcus aureus (7.3%). Most of the pathogens were resistant to multiple antibiotics, especially to ß-lactam antibiotics. We propose that California mastitis test be combined with somatic cell count for diagnosis of subclinical mastitis in domestic dairy buffaloes. Further, our results reveal high resistance of the associated bacteria to the ß-lactam class of antibiotics, and a possible major role of coagulase-negative staphylococci in causing the disease in India.

Typing of Staphylococcus aureus isolated from bovine mastitis cases in Australia and India.

OBJECTIVE: To determine the prevalence of the different capsular polysaccharide (CP) and major surface-associated non-CP antigen 336 (SP-336) types among Staphylococcus aureus isolated from bovine mastitis cases in Australia and India. METHODS: A total of 414 strains (154 from Australia, 260 from India) isolated from clinical bovine mastitis were included in the study. Mouse antisera raised against CP types (CP1, CP2, CP5, and CP8) or SP-336 were used in slide agglutination tests and compared with detection of cap1, cap5 and cap8 gene fragments by PCR. RESULTS: Serological studies revealed the presence of CP2, CP5, CP8 and SP-336 in 9.1%, 23.4%, 31.8%, and 5.8% of the Australian versus 0.8%, 46.9%, 13.1% and 0% of the Indian isolates, respectively. By PCR, CP1, CP5 and CP8 accounted for 0%, 26.6% and 32.4% of the Australian versus 3.9%, 85% and 8.1% of the Indian isolates, respectively. CONCLUSIONS: Both PCR and the serological method demonstrated that CP5 and CP8 are the predominant capsular types in Australia, whereas CP5 is the predominant capsular type in India. The study also demonstrated a strong correlation between both methods of typing for CP1, CP5, CP8 and non-typeable S. aureus strains. High-percentage prevalence of non-typeable isolates in both the countries highlights the importance of continued investigations of the identification of unique surface-associated polysaccharide antigens prevalent among S. aureus isolates for the formulation of CP- and SP-based vaccines for bovine mastitis.

HLA - DQ genotyping in celiac disease in western India.

BACKGROUND AND AIMS: Very few human leukocyte antigen (HLA) studies have been carried out in celiac disease patients in India. The aim was to study the HLA DQ antigens in diagnosed celiac disease patients. METHODS: The cross sectional study analysed non-consecutive 34 celiac patients diagnosed as per modified ESPGHAN criteria at tertiary centre and compared with 25 controls. The HLA-DQ typing was carried out using Histo Spot SSO HLA DQ celiac disease kit by tissue typing department. RESULTS: Out of 34 celiac disease patients (26 females, age ± SD 38.79 ± 15.84 years), 59% presented with typical diarrheal disease. Anemia (76%) was most common extra intestinal manifestation followed by bone pain (53%), neurological (12%) and infertility (3%). All 34 patients were IgA antiendomysial antibody positive out of which 32 patients (94%) were HLA-DQ positive (31 patients were HLA-DQ 2 and 1 was HLA-DQ 8 positive).Among HLA positive patients 13, 9 and 10 patients had modified Marsh stage 1, 2 and 3 respectively. HLA DQ 2 and DQ8 positivity among celiac patients (94%) was statistically significant as compared to controls (12%) (P< 0.0001). HLA DQ 2.5 (DQA1*0501 :DQB1*0201 haplotype) and DQ 2 (DQB1*02) haplotypes were common accounting for 70% of patients followed by DQ X.5, DQ8 and DQ 2.2. CONCLUSION: Celiac disease in Indian patients is predominantly associated with HLA DQ 2 and DQ 8 genotype and has high positive predictive value for diagnosis when combined with serology in symptomatic patients.

Prevalence of classical swine fever in Karnataka, India.

AIM: The present study was conducted to know the current scenario of classical swine fever (CSF) in Bengaluru Urban, Bengaluru Rural, Chikkaballapur, Madikeri, Mandya, Bagalkot, Gadag, Yadgir, Koppal, and Bidar districts of Karnataka with the using of both antigen and antibody ELISA. MATERIALS AND METHODS: We collected 218 sera and 121 blood samples from pigs from 10 different districts of Karnataka. Screening of sera for CSF IgG antibody and whole blood for CSF virus antigen were carried out using the CSF virus (CSFV) antibody and antigen ELISA kits, respectively. RESULTS: The mean seroprevalence was 41% (89/218) and prevalence of CSFV antigen in blood samples was 32% (39/121) for the 10 districts of Karnataka. Seroprevalence of 61%, 29%, 20%, and 21%; and antigen prevalence of 40%, 50%, 13%, and 12% were recorded for Bangalore, Mysore, Belgaum, and Gulbarga divisions of Karnataka, respectively. CONCLUSIONS: The study revealed an alarmingly high prevalence of CSF, both for the antigen (32%) and antibody (41%) in Karnataka. Southern Karnataka has the highest seroprevalence (61% in Bangalore and 29% in Mysore divisions), which confirms the endemicity of the disease in that region. This could be attributed to the intensive pig farming practices in the region as compared to Northern Karnataka (Seroprevalence of 20% in Belgaum and 21% in Gulbarga divisions), where the commercial pig farming is still in infantile stages.

Chronic neutrophilic leukemia: a rare case report.

Chronic neutrophilic leukemia (CNL) is a rare chronic myeloproliferative disorder characterized by splenomegaly, sustained neutrophilic leukocytosis, raised serum vitamin B12 level and absence of the Philadelphia chromosome and BCR/ABL1 fusion gene. CNL can be distinguished from chronic myelogenous leukemia, leukemoid reaction and myelodysplastic syndrome. We report a case of 45 year old male patient with CNL.

Histopathological study of cutaneous manifestations in HIV and AIDS patients.

OBJECTIVES: Most human immunodeficiency virus (HIV)-infected patients develop various skin diseases. These skin manifestations not only act as markers but also reflect the patient's underlying immune status. Investigating CD4 counts is costly and not always possible. Thus, the potential value to be gained by using skin manifestations as predictors of low CD4 counts and disease progression should be explored. The present study attempted to correlate the association of various cutaneous disorders found in HIV patients with CD4 and CD8 counts, the CD4 : CD8 ratio and stage of HIV infection. METHODS: This was a prospective study involving 61 patients who were HIV-positive and demonstrated skin lesions. Punch biopsies of skin were taken for histopathological diagnosis. CD4 and CD8 T cell counts were performed. RESULTS: The study sample included a majority of male patients, most of whom were aged 21-40 years. Pruritic papular dermatitis was the most common skin manifestation, followed by molluscum contagiosum, eosinophilic folliculitis, and Hansen's disease. Most of the lesions were associated with CD4 counts of <220/µl (n = 38). All skin lesions associated with HIV or acquired immune deficiency syndrome (AIDS) showed a CD4 : CD8 ratio of <0.50. CONCLUSIONS: The study findings demonstrate an inverse relationship between CD4 counts and the occurrence of skin lesions. The majority of lesions were associated with stage 3 or stage 4 infection. Thus, specific cutaneous manifestations can be considered as good clinical indicators for predicting underlying immune status in resource-poor countries.

Non-metrical study of the pattern of talar articular facets in south Indian dry calcanei.

OBJECTIVE: Tarsal coalitions are common in the middle talocalcaneal joints and prognosis of intracapsular fractures in the region is bad. So this study was done to know the size, shape and number of talar articular facets and the distance between the two anterior facets. MATERIALS AND METHODS: A total of 300 (154 right and 146 left) dry human calcanei of unknown sex were studied. The articular facets were marked with marker pen; the distance between the smaller anterior and middle facets was measured using a vernier calipers and they are classified into four types. RESULTS: After classification of the calcanei, we found that Type-1 was 67%, Type-2 was 28.66%, Type-3 was 3%, and Type-4 was 1.33%. CONCLUSION: In our study, Type-1 was common followed by Type-2. Race appears to play a part in the determination of the type of facets and hence this study will be useful for the orthopedics surgeons during various surgical procedures.

Prevalence of hearing loss and ear morbidity among adolescents and young adults in rural southern Nepal.

A cross-sectional survey was conducted among 3646 persons, 15 to 23 years of age, in the southern plains District of Sarlahi, Nepal, to assess the prevalence and severity of hearing loss and middle-ear dysfunction, and adverse effects of hearing loss on social integration. Between 2006 and 2008, subjects were enumerated and underwent otoscopic, tympanometric, and audiometric evaluations at central sites in villages. Hearing loss was diagnosed in subjects who failed a hearing screening and exhibited an average air conduction threshold value greater than or equal to 30 dBHL in the worse ear. Clinically, 32.8% of subjects exhibited a dull or retracted tympanic membrane, and 18% had abnormal tympanometry. Nearly 12% failed the hearing screening test, among whom more than half, or 6.1% overall, had hearing loss. Hearing-impaired subjects were six- to eight-fold (ORs, with 95% CIs excluding 1.0) more likely to report problems in hearing usual sounds or communicating with other people. Among young adults living in southern Nepal, hearing loss is common, and associated with social disability.

Young maternal age and the risk of neonatal mortality in rural Nepal.

OBJECTIVES: To investigate the relationship between adolescent pregnancy and neonatal mortality in a nutritionally deprived population in rural Nepal, and to determine mechanisms through which low maternal age may affect neonatal mortality. DESIGN: Nested cohort study using data from a population-based, cluster-randomized, placebo-controlled trial of newborn skin and umbilical cord cleansing with chlorhexidine. SETTING: Sarlahi District of Nepal. PARTICIPANTS: Live-born singleton infants of mothers younger than 25 years who were either parity 0 or 1 (n = 10,745). MAIN EXPOSURE: Maternal age at birth of offspring. OUTCOME MEASURE: Crude and adjusted odds ratios of neonatal mortality by maternal age category. RESULTS: Infants born to mothers aged 12 to 15 years were at a higher risk of neonatal mortality than those born to women aged 20 to 24 years (odds ratio, 2.24; 95% confidence interval, 1.40-3.59). After adjustment for confounders, there was a 53% excess risk of neonatal mortality among infants born to mothers in the youngest vs oldest age category (1.53; 0.90-2.60). This association was attenuated on further adjustment for low birth weight, preterm birth, or small-for-gestational-age births. CONCLUSIONS: The higher risk of neonatal mortality among younger mothers in this setting is partially explained by differences in socioeconomic factors in younger vs older mothers; risk is mediated primarily through preterm delivery, low birth weight, newborns being small for gestational age, and/or some interaction of these variables. TRIAL REGISTRATION: clinicaltrials.gov Identifier: NCT00109616.

Miscarriage but not stillbirth rates are higher among younger nulliparas in rural Southern Nepal.

PURPOSE: To examine the impact of young maternal age on miscarriages and stillbirths in rural Southern Nepal. METHOD: Pregnancies, miscarriages, and stillbirths were prospectively identified in two randomized trials of maternal micronutrient supplementation. This analysis included 5861 women of parity 0 (nulliparas) and 4459 of parity 1 (primiparas) who were <26 years of age. RESULTS: Among nulliparous women, 5.7% and 4.6% of pregnancies ended in miscarriage and stillbirth. The adjusted relative risk of miscarriage was 2.07 for girls <15 (95% confidence interval [CI] = 1.17-3.66) compared with those 18 and 19 years, and was 1.40 (95% CI = 1.06-1.84) among those 15-17 years. Stillbirth rates did not differ significantly by maternal age. There were no differences in miscarriage or stillbirth rates by maternal age among primiparas. CONCLUSION: Young maternal age increased the risk of miscarriages but not stillbirths for nulliparas. Miscarriages and stillbirths did not differ by maternal age for primiparous women.

Antenatal supplementation with micronutrients and biochemical indicators of status and subclinical infection in rural Nepal.

BACKGROUND: Previously we showed that women in rural Nepal experience multiple micronutrient deficiencies in early pregnancy. OBJECTIVE: This study examined the effects of daily antenatal micronutrient supplementation on changes in the biochemical status of several micronutrients during pregnancy. DESIGN: In Nepal, we conducted a randomized controlled trial in which 4 combinations of micronutrients (folic acid, folic acid + iron, folic acid + iron + zinc, and a multiple micronutrient supplement containing folic acid, iron, zinc, and 11 other nutrients) plus vitamin A, or vitamin A alone as a control, were given daily during pregnancy. In a subsample of subjects (n = 740), blood was collected both before supplementation and at approximately 32 wk of gestation. RESULTS: In the control group, serum concentrations of zinc, riboflavin, and vitamins B-12 and B-6 decreased, whereas those of copper and alpha-tocopherol increased, from the first to the third trimester. Concentrations of serum folate, 25-hydroxyvitamin D, and undercarboxylated prothrombin remained unchanged. Supplementation with folic acid alone or folic acid + iron decreased folate deficiency. However, the addition of zinc failed to increase serum folate, which suggests a negative inhibition; multiple micronutrient supplementation increased serum folate. Folic acid + iron + zinc failed to improve zinc status but reduced subclinical infection. Multiple micronutrient supplementation decreased the prevalence of serum riboflavin, vitamin B-6, vitamin B-12, folate, and vitamin D deficiencies but had no effect on infection. CONCLUSIONS: In rural Nepal, antenatal supplementation with multiple micronutrients can ameliorate, to some extent, the burden of deficiency. The implications of such biochemical improvements in the absence of functional and health benefits remain unclear.

Splenic tumours--autopsy study of ten years.

Human spleen, though being the largest component of reticuloendothelial system, is a very rare site of tumor metastases. Splenic metastases are usually seen as part of multi-organ involvement. Autopsy study conducted over a period of 10 years revealed that the incidence of neoplastic involvement of spleen was 1.45% (70/4812). Primary malignant involvement of spleen was also noted to be a rare entity in present study.