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Three-Year Experience of Cytogenetic and Molecular Genetic Evaluation in Patients With Disorders of Sex Development at a Tertiary Care Centre in Eastern India.

OBJECTIVES: Disorders of sex development (DSD) include a range of conditions in which chromosomal, gonadal, or anatomical sex deviates from the typical developmental pathway. The diagnostic approach to DSD has shifted from karyotyping to molecular genetic tools. This study evaluated the clinical presentation, cytogenetic spectrum, and diagnostic utility of conventional and advanced molecular genetic investigations in patients with suspected DSD managed at a tertiary care facility in Eastern India over a three-year period. METHODS: A retrospective observational study was conducted at the Genetics Laboratory of a tertiary care teaching hospital in Eastern India. Consecutive patients with clinically suspected DSD referred between January 2022 and December 2024 were included. Demographic and clinical data were obtained from referral records, and peripheral blood samples were analysed using standard G-banded karyotyping according to the International System for Human Cytogenomic Nomenclature (ISCN 2020). Fluorescence in situ hybridisation (FISH), chromosomal microarray analysis (CMA), and whole-genome sequencing (WGS) were selectively performed in cases with inconclusive cytogenetic findings, suspected structural chromosomal abnormalities, or complex phenotypes. RESULTS: A total of 98 suspected DSD cases were evaluated during the study period. The most frequent chromosomal constitution was 46,XY DSD (37, 37.8%), followed by 46,XX DSD (30, 30.6%) and sex chromosome DSD (21, 21.4%). Culture failure occurred in 10 (10.2%) samples. Advanced genetic techniques, including FISH, CMA, and WGS, improved diagnostic clarification in selected complex cases. CONCLUSION: This experience highlights the importance of integrating contemporary high-resolution technologies with conventional cytogenetics to enhance the assessment, counselling, and treatment of individuals with DSD.

chromosomal analysis

Maximum permissible weight to be carried on the head by a male worker from eastern India.

Six healthy adult male Indian workers whose physical characteristics resembled those of the average worker from eastern India, were required to carry compact loads of 20, 30, 40, and 50 kg at a speed of 5 km/h on separate days. From observations on energy expenditures, of peak pulse rates, and of the patterns of recovery pulse rates, it was decided that for the average eastern Indian male worker the permissible weight of a compact load for manual carriage on a hard, level terrain should not ordinarily be more than 30 kg.

Fatigue

Acrylamide gel electrophoretic patterns of human serum alkaline phosphatase activity-- a population study in the eastern India.

Akaline phosphatase activity following polyacrylamide gel electrophoresis of human sera obtained from normal populations in the Eastern India shows a correlation between the presence of p++ phenotypes with the B and O blood groups only in females. The incidence of additional bands in the beta-lipoprotein zone is much higher in female samples than in males. The frequencies of both p++ and p+ henotypes within the different endogamous communities and castes are rather variable. Electorphoresis following heat treatment of sera obtained from pregnant females shows the complete absence of p++ and p+, as also of bands at the beta-lipoprotein zones in them.

ABO Blood-Group System

Limited efficacy of plazomicin against carbapenem resistant Enterobacterales in a tertiary care centre in Eastern India.

The global escalation of carbapenem resistant Enterobacterales (CRE) represents a critical threat to public health, necessitating the investigation of alternative therapeutic agents. Plazomicin, a newer aminoglycoside, was engineered to evade common aminoglycoside-modifying enzymes. This study evaluated the susceptibility of plazomicin among 100 CRE isolates. The findings reveal a strikingly low plazomicin susceptibility rate of only 15/100 (15%). Whole-genome sequencing identified a high prevalence of 16S rRNA methyltransferase (RMTase) genes, such as armA and rmtB1, which confer high-level resistance to plazomicin. These results suggest that plazomicin may have limited utility against CRE in regions where RMTase-mediated resistance is prevalent.

Sisomicin

Haptoglobin types in cancer patients in comparison with normal populations in the Eastern India.

The distribution of haptoglobin (Hp) phenotypes in patients with different types of cancer was compared with those in the normal population, with the aid of vertical disc polyacrylamide gel electrophoresis. The Hp1 gene frequency (0.0647) of the normal population exhibited only a slight difference from that of the cancer patients, as against previous records. The only appreciable difference was in the range of mobility of the Hp2 bands from the origin in individuals with Hp 2-1 and 2-2 phenotypes.

Electrophoresis, Polyacrylamide Gel

Transferrin patterns in the Eastern India in normal and malignant cases.

A series of 200 normal serum samples obtained from healthy blood donors belonging to different religious communities and casters were examined for transferrin phenotypes by vertical polyacrylamide gel electrophoresis. Of these, 196 showed the common CC phenotype, while 4 showed CD phenotype, without any correlation with the caste or community. In another study involving 102 cases of malignancy, no relationship was observed between th transferrin phenotype and the type of malignancy, except in the case of Hodgkin's disease, which showed B2C phenotype.

Electrophoresis, Polyacrylamide Gel

Comparative genomics reveals genotype-phenotype concordance and cryptic resistomes in clinical Pseudomonas aeruginosa.

BACKGROUND: Pseudomonas aeruginosa (P. aeruginosa) is a major pathogen because of its adaptability. It shows rapid evolution of multidrug resistance (MDR). Phenotype-based diagnostics often fail to detect silent resistance determinants and early adaptive changes. This study integrates phenotypic profiling with whole-genome sequencing (WGS) to examine resistance architecture in clinical isolates from eastern India. METHODS: From 1295 culture-positive P. aeruginosa specimens collected at a tertiary care hospital in eastern India. Using predefined criteria, representative MDR and non-MDR isolates were selected, including distinct resistance phenotypes, specimen-source diversity, and hospital and community-acquired settings; multivariate analysis of resistance profiles illustrated phenotypic diversity. Antimicrobial susceptibility assessed using VITEK-2 and Kirby-Bauer disk diffusion, species identity confirmed by 16 S rRNA sequencing, and genomic analysis processed through a reference-guided workflow. Antimicrobial Resistance (AMR) determinants were identified through CARD, and phylogenetic tree constructed from 454 publicly available P. aeruginosa genomes. RESULTS: MDR exhibited greater sequence divergence relative to PA14 (~ 69,000 variants) than the non-MDR isolate (~ 58,700 variants), with > 92% coverage at ≥ 30X depth. Strong genotype-phenotype concordance observed in MDR isolates across five antibiotic classes, associated with β-lactamase variants (PDC-67, OXA-396) and regulatory adaptations (ArmR, cprS). The non-MDR isolate harboured gyrA (T83I) resistance-associated mutations, PDC-1, and OXA-847 without phenotypic expression, indicating silent resistome. Phylogenetically, MDR isolates clustered tightly within the phylogeny, while the non-MDR isolate formed a distinct lineage. CONCLUSION: Observed genomic differences align with adaptation under antimicrobial selection, though confirmation requires larger collections. The non-MDR isolate retained a silent resistome. Findings highlight limitations of phenotype-only diagnostics, support genomic data integration, and emphasize transcriptomics for hidden resistance expression and regulatory dynamics.

Pseudomonas aeruginosa

Population structure of the Juang tribe in Orissa, India.

The coefficient of kinship of the Juangs, a very primitive tribe in the state of Orissa in eastern India, is estimated. The Juang population is sub-divided into two breeding groups: one practising shifting cultivation in the hilly regions of the former state Keonjher and Pal-Lahara, called here "primitive group"; the other settled in Dhenkanal and practising normal Indian agriculture, called here "advanced group". From the migration matrix the mean eoefficient of kinship in a population subdivided by geographically restricted clans is estimated to be 0.0045 for the primitive group and 0.0324 for the advanced group. These values correspond to Alpine and Micronesian isolates, respectively. Estimates from genealogies of randomly paired sibships are substantially smaller (0.0016 and 0.0131, respectively), but are biased downward by incompleteness of pedigrees and by neglect of restricted migration within each group. Therefore the estimates from the migration matrix are presumably more reliable in this material, and perhaps commonly in tribal populations.

Ethnicity

An epidemiological review of Japanese encephalitis.

Twenty-five years ago, Japanese encephalitis (JE) was known as an endemic, mosquito-borne disease in East Asia. Today, the causative virus is known to be distributed from maritime Siberia to the north, eastern India to the west, the Archipelago of Japan presumably the Philippines to the east, and from Indonesia to the south. Since the late-1960s, the geopathological status of JE epidemics has undergone considerable changes. The sizes of JE epidemics in Japan and China (Province of Taiwan) have steadily declined. In fact the JE virus itself appears to be disappearing from Japan. Long-term prediction of JE epidemics is more difficult for Korean Peninsula, nevertheless, reported JE morbidity rate in the Republic of Korea has remained at a relatively low level since 1969. In contrast to the trend in East Asia, new epidemic foci of JE have been emerging in the northern part of Tropical Eastern South Asia starting in 1969. Of particular importance are the continued high incidence (annual morbidity rate: 8.67-22.04/100 000) of reported JE in the northern part of Viet Nam between 1969 and 1974, and the high incidence (14.7/100 000) recorded in Chiang Mai Valley, Thailand, between 1969 and 1970. Apparently, the epidemic in Chiang Mai Valley spread to the neighbouring Shan State of Burma in 1974. Another JE epidemic broke out in West Bengal State, India in 1973. The occurrence of JE in the endemic zone south of these areas has remained sporadic. An increasing number of pathogens have been shown to cause signs and symptoms clinically indistinguishable from JE. In this review, the quality and international comparability of available JE statistics are also examined. Only a few countries and areas with reasonably developed statistical and laboratory services are able to provide national JE statistics in a form ready for epidemiological analysis. A practical surveillance system for JE needs to be organized in those countries where JE is a newly emerging health problem.

Asia

Tracking microplastic contamination across seasons in a freshwater reservoir: Evidence from surface water, sediments, and fishes.

Microplastics (MPs) are prevalent contaminants in aquatic environments, posing substantial ecological and health risks. These particles migrate within the different layers of aquatic bodies with time and affect the respective biota. Thus, to get an in-depth understanding of the particles, this current study investigated the seasonal distribution, morphological and chemical characteristics, along with potential ecological and human health impacts in the samples including surface water, sediment, and fish from a drinking water supplying reservoir in eastern India. Across three different seasons, pre-monsoon, monsoon, and post-monsoon samples were collected using optimized methods. Results revealed distinct seasonal trends: MP abundance in surface water peaked during the monsoon (mean: 1.15 MPs/L), while sediment showed the highest concentrations in the pre-monsoon (mean: 596 MPs/kg), indicating temporal accumulation dynamics influenced by runoff, hydrodynamics, and sedimentation. Fish gut analysis confirmed ingestion of MPs across five species, with concentrations ranging from 26 to 100 MPs/kg, depending on feeding habits. The most dominant MP type were fragments, followed by fibers, films, and beads. Polymer analysis via µFTIR identified polyethylene, polypropylene, and polyvinyl chloride as prevalent, with hazard assessments (i.e., Polymer Hazard Index (PHI)) indicating medium to very high ecological risks. Heavy metal association was more dominant in the MPs isolated from sediments than the waterborne MPs. Pollution Load Index (PLI) values were > 1 in most seasons, confirming contamination. Health risk analysis suggested potential exposure through both drinking water and fish consumption. This study emphasizes the need for seasonal monitoring, improved waste management, and mitigation strategies to address MP pollution in freshwater ecosystems.

Microplastics

Pulmonary function studies in healthy Pakistani adults.

Predicted normal spirometric values have been shown to have significant geographical and ethnic variation. These variations are of epidemiological significance in determining the prevalence of disease and of clinical importance in measuring the effects on pulmonary function of various diseases. A total of 599 men were chosen from employees of a package manufacturer, a general hospital in Lahore, and a village in northern Pakistan; 94 students and staff of a women's college in Lahore were also studied. The forced vital capacity (FVC) was recorded from three satisfactory efforts, and the FVC, one second forced expiratory volume (FEV1), and maximal midexpiratory flow (MMF, or FEF25-75%) were calculated from the best FVC effort. The FVC and FEV1 in men were found to be similar to those of a group of emigrant Pakistanis and a north-western Indian population (Delhi) but higher than populations in south and eastern India. Pakistani women had values similar to those of women in northern India. None of the women smoked and, among Pakistani men, the smokers (285) averaged 6.7 pack years. While the FVC and FEV1 values did not differ between smokers and non-smokers, there was a significant difference in MMF (FEF25-75%) in the two groups. This latter finding corroborates studies on North American populations in which smokers generally have had a higher lifelong cigarette consumption. This confirms the MMF (FEF25-75%) to be a more sensitive test of subtle, asymptomatic changes in pulmonary function than the more widely used FVC and FEV1.

Adult

Urolithiasis in Manipur (north eastern region of India). Incidence and chemical composition of stones.

The incidence of urolithiasis in Manipur is very high. From hospital records for a period of 7 years and 3 months, it was observed to be 11.6% of all general surgery cases in the General Hospital, Imphal. This is alarmingly high. The social, eating, drinking, and living habits are different among the three major populations in this state. The prevalence was minimal among Tribals. Compared to them the prevalence was about one and one half times higher among Muslims (also called Pangals) and seven times higher among Hindus. Surprisingly, the incidence of renal calcalus was higher in females. One hundred ninety-six stones were studied by wet chemical analysis. Calcium and oxalate were present in all stones. Phosphate was present in 194 stones and uric acid (including urate) was present in 146 stones.

Adolescent