bluuebunny/crossref_metadata_2025 huggingface dataset:
Chikungunya outbreak in Garo Hills, Meghalaya
Authors: Khan Siraj Ahmed , Dutta Prafulla , Topno Rashmee , Borah Jani , Chowdhury Purvita , Mahanta Jagadish
Published: December 2024

Background & objectives:

Chikungunya (CHIK) fever is a mosquito-borne disease caused by chikungunya virus (CHIKV). Chikungunya infection was first reported from India in 1963 from Kolkata. We report the serological and molecular evidence of an outbreak of chikungunya in northeast India that occurred in Tura, a hilly and forested terrain in Garo Hills district of Meghalaya.

Methods:

Blood samples (3 ml) collected from hospitalized patients during the outbreak were tested for IgM antibodies against CHIKV and followed up four months later. A repeat survey was carried out in the same area after four months from where cases had been reported. Blood samples were also collected from people with history of fever and body ache in the last four months. Persons showing IgM positivity against CHIKV in the repeat survey were followed up one and a half years later. All samples were also processed by RT-PCR assay for CHIK Envelope (E) 1 gene. Immature mosquitoes were collected, link reared and identified with standard keys. Virus incrimination studies were done on Aedes aegypti and Ae. albopictus mosquitoes collected during the survey.

Results:

Fever, headache and joint pain were the primary clinical presentations. Twenty three (35.93 %) of 64 samples reported during the outbreak were IgM positive for CHIK. Three samples showed PCR amplification. All these were IgM positive. The sequenced E1 gene revealed that the strains belonged to East Central South African (ECSA) genotype.

Interpretation & conclusions:

Field survey done after four months revealed that some individuals still had joint pain associated with episodes of headache and fever. It could be inferred that these persons might have contracted infection during the CHIK outbreak four months ago or during the intervening period which caused persistence of sequelae. ECSA genotype was found to be involved in the outbreak. Aedes albopictus was the predominant mosquito species collected during the outbreak.
Pulmonary tuberculosis among tribals in India
Authors: Thomas Beena E. , Adinarayanan Srividya , Manogaran C. , Swaminathan Soumya
Published: December 2024

Background & objectives:

There has been limited investigation on the prevalence of tuberculosis (TB) in tribal communities in India, a vulnerable section of Indian society. The lack of a population-based estimate prompted us to conduct a meta-analysis of existing studies to provide a single, population-based estimate of the TB prevalence for tribals.

Methods:

Literature search was conducted in PubMed using the keywords - “tuberculosis”, “tribals”, “India”, “prevalence”, and “survey”. References cited in the articles retrieved were also reviewed, and those found relevant were selected. TB prevalence rates estimated by the studies were used for our calculation of a pooled-estimate.

Results:

The pooled estimate, based on the random effects model, was 703 per 100,000 population with a 95 % CI of 386-1011. The associated heterogeneity measures in terms of Cochran's Q was significant (P=0 0.08 <0.1) and I2 was moderate at 48 per cent.

Interpretation & conclusions:

The meta-analysis demonstrated a large variability in pulmonary TB prevalence estimates among the different studies with poor representation of the various tribal groups. The moderate level of heterogeneity found across the studies suggests that the pooled-estimate needs to be treated with caution. Our findings also highlight the need to assess the pulmonary TB burden in India.
Diet & nutrition profile of Chenchu population - a vulnerable tribe in Telangana & Andhra Pradesh, India
Authors: Rao K. Mallikharjuna , Kumar R. Hari , Krishna K. Sreerama , Bhaskar V. , Laxmaiah A.
Published: December 2024

Background & objectives:

Earlier studies have documented high prevalence of undernutrition, morbidity and mortality among Chenchus, a tribal population in Telangana and Andhra Pradesh, India. The present study was carried out to assess diet and nutritional status of Chenchus and cause of death.

Methods:

A total of 42 Chenchu villages (gudems) were covered using systematic random sampling procedure. In each gudem, all the households with at least one child under the age of five years were covered for various investigations. Weighment diet survey was carried out on a sub-sample of households. In addition, information on cause of death in the selected 42 gudems was collected for past one year using verbal autopsy method.

Results:

A total of 1396 subjects of all age groups were covered for various investigations. The intakes of food and nutrients were lower than the recommended levels. The prevalences of underweight, stunting and wasting among under five children were 42 per cent (CI: 37.9-46.1), 53 and 13 per cent, respectively, while 41 per cent (CI: 37.8-47.2) men and 42 per cent (34.4-47.8) women had chronic energy deficiency (BMI<18.5 kg/m2). Sixty eight deaths were reported during the past one year in 42 Chenchu gudems. The major causes of death were premature delivery, low birth weight, alcoholic cirrhosis of liver, accidents, snakebite and pulmonary tuberculosis.

Interpretation & conclusions:

The prevalence of undernutrition in Chenchu population was comparable with other tribal and rural counterparts in Andhra Pradesh, however, the crude death rate (11.7/1000) was higher among the Chenchus. Steps may be taken to promote consumption of balanced diet and utilization of optimal healthcare facilities to control morbidity and mortality.
Clinically Indicated Renal Biopsy in Type 2 Diabetes Mellitus – It Is Not Always Nondiabetic Kidney Disease
Authors: Rajan Ramprasath , Anand S. Murugesh , Viswanathan Ramasubramanian , Velu Kannan Bhaba , Kumar P. K. Senthil , Shankar P.
Published: December 2024

ABSTRACT

Introduction:

The manifestations of diabetes mellitus in the kidney can be in the form of diabetic nephropathy (DN), nondiabetic kidney disease (NDKD), and DN with overlapping NDKD features. We conducted this study to examine the incidence of DN in kidney biopsies done in diabetic patients to diagnose NDKD.

Materials and Methods:

This study was an ambispective study done in a tertiary medical college hospital. Data were collected from all type 2 diabetic patients who underwent kidney biopsy. Clinical, histopathological, and laboratory parameters were compared between the three groups (DN, NDKD, and DN with overlapping NDKD features).

Results:

Of the 82 diabetic patients who underwent kidney biopsy, the incidence of DN, NDKD, and NDKD with DN was 30.2%, 39.6%, and 30.2%, respectively. Rapidly progressive renal failure was the common indication for the biopsy. In patients with only DN, the common indication for biopsy was rapid worsening of proteinuria. Acute tubular injury and infection-related glomerulonephritis were the common NDKD in patients with overlapping DN. Diabetic retinopathy was noted in 63.2% of the patients with DN. 77.7% of the patients with macrovascular complications had only DN. On histological analysis, the patients with only DN had higher grades of tubulointerstitial and vascular changes which could explain their atypical presentation.

Conclusion:

In this study, with clinically indicated biopsies, the incidence of patients with only DN is significant (30.2%). Scrutiny of histopathological findings such as a correlation between glomerular and tubulointerstitial lesions will broaden the understanding of varied clinical presentations of DN which will help in clinical decision-making, individualize interventions, and optimize the care of these patients.
Beyond the Usual: Unmasking Nicorandil’s Hidden Side – A Case of Colonic Ulceration
Authors: Khan Urvashi
Published: December 2024

ABSTRACT

Nicorandil, a potassium channel opener commonly used in the management of ischemic heart disease, has been associated with gastrointestinal adverse effects, including ulceration. Here, we present a case of severe rectal bleeding in a patient receiving nicorandil therapy. A 62-year-old male with a history of ischemic heart disease and chronic kidney disease on maintenance hemodialysis presented to the emergency department with per rectal bleeding and hemodynamic instability. Multiple ulcers with active bleeding were seen on flexible sigmoidoscopy. Nicorandil therapy was promptly discontinued, and the patient underwent a blood transfusion. The patient made an uncomplicated recovery. This case underscores the importance of considering nicorandil-induced ulceration as a potential cause of gastrointestinal bleeding in patients with cardiovascular comorbidities.
Does endoscopic thoracic sympathectomy through clipping procedure have early effects on electrocardiographic parameters?
Authors: Candas Fatih , Isilak Zafer , Yildizhan Akin , Uz Omer , Yalcin Murat , Gorur Rauf , Isitmangil Turgut
Published: December 2024

Background & objectives:

Hyperhidrosis is a pathologic condition of excessive sweating in amounts greater than physiologic needs. Endoscopic thoracic sympathectomy (ETS) is a globally accepted treatment modality for primary palmar and axillary hyperhidrosis. ETS also has distinctive effects on the heart, circulatory and respiratory systems. In this study early effects of ETS on electrocardiographic (ECG) parameters of hyperhidrosis patients were evaluated.

Methods:

Twelve-lead ECGs were performed on 72 patients who were free from cardiovascular, metabolic, neurological and pulmonary diseases and underwent planned ETS because of hyperhidrosis, before and after the procedure within the first 24 h. Heart rate (HR), PR, QT, corrected QT (QTc), QTc/Tpeak-Tend (TpTe) intervals, P-wave and QTc/TpTe dispersions were compared by ECG.

Results:

A total of 72 patients (24.1±6.0 yr, 17 female) were included in the study. The pre-operative HR of patients was significantly higher than post-operative HR of patients (73.8±12.8 vs. 68.1±12.6 beats/ min; P<0.001). The QTc dispersion (QTcd) durations of pre-operative patients were significantly longer than those of post-operative patients (51.5±6.3 vs. 44.9±5.6 msec; P<0.01). The TpTe dispersion value of pre-operative patients was significantly (P<0.001) higher than that of post-operative patients.

Interpretation & conclusions:

Our study showed that ETS through clipping procedure had positive effects on the mechanisms of arrhythmia by reducing HR, QTcd, TpTe and TpTe dispersion parameters of ECG in early periods in hyperhidrosis patients.
Re-establishment of normal radioactive iodine uptake reference range in the era of universal salt iodization in the Indian population
Authors: Ballal Sanjana , Soundararajan Ramya , Bal Chandrasekhar
Published: December 2024

Background & objectives:

The reference radioactive iodine uptake (RAIU) values established in the 1970s in the era of widespread iodine deficiency were relatively high. Now, after four decades of successful Universal Salt Iodization (USI) programme in India, there is a need to re-establish these reference ranges. The present study was aimed to quantify the two-hour and 24-h RAIU values in iodine sufficient euthyroid individuals and validate the results in Graves’ and Hashimoto's thyroiditis patients.

Methods:

In this prospective study conducted from April 2012 to September 2013, euthyroid volunteers who consented for the investigations were enrolled in the study. Treatment-naive Graves’ disease and Hashimoto's thyroiditis patients were recruited from the outpatient clinic. The investigations included neck ultrasonography, thyroid function tests, thyroglobulin (Tg), anti-Tg and anti-thyroid peroxidase antibody and urinary iodine concentration.

Results:

Three different groups comprising 110 euthyroid volunteers, 38 Graves’ and 17 Hashimoto's thyroiditis patients were enrolled in the study. The mean 2-h RAIU values for the euthyroid group, Hashimoto's thyroiditis and Graves’ patients were 3.83±2.77, 4.22±3.41 and 32.67±15.93 per cent, and mean 24-h RAIU values were 12.75±5.51, 11.66±9.55 and 61.85±12.9 per cent, respectively. The mean thyroid volumes were 7.63±2.72, 7.81±1.67 and 20.76±12.56 ml for the euthyroid, Hashimoto's thyroiditis and Graves’ disease groups and the mean spot urinary iodine concentrations were 9.0, 7.8 and 13.9 µg/dl in the three groups, respectively. The new reference range (95% confidence interval) for two-hour was 1-7 per cent and 24-h was 7-18 per cent.

Interpretation & conclusions:

Compared to the previous values, there was a considerable decrease in the RAIU values in euthyroid individuals. This was further corroborated with increase in the urinary iodine concentration and decrease in thyroid volume, attributed to successful USI programme. Further studies with a large sample from different parts of India need to be done to confirm these findings.
Serum levels of soluble urokinase plasminogen activator receptor as a new inflammatory marker in adolescent obesity
Authors: Can Ummugulsum , Buyukinan Muammer , Yerlikaya Fatma Humeyra
Published: December 2024

Background & objectives:

Obesity is known for low-grade inflammatory state with enhanced production of inflammatory mediators in children and adolescents. Soluble urokinase plasminogen activator receptor (suPAR) can be generated as a pro-inflammatory marker. This study was conducted to evaluate the role of suPAR, and its association with leptin, adiponectin, interleukin-6 (IL-6), high-sensitive C-reactive protein (hsCRP) and fibrinogen in adolescent obesity.

Methods:

A total of 98 participants, 55 obese individuals and 43 healthy controls, aged between 10 and 17 yr, were included in the study. Serum suPAR, IL-6, leptin and adiponectin were measured using ELISA method.

Results:

Serum suPAR, IL-6, fibrinogen, hsCRP and leptin levels in obese individuals were significantly higher than those of controls (P<0.05 & P<0.001). Serum adiponectin levels in obese individuals were significantly lower than those of controls (P<0.01).

Interpretation & conclusions:

Our findings showed that suPAR, IL-6, fibrinogen, hsCRP and leptin were significantly higher in the obese individuals than those of controls. suPAR may be a good novel biomarker for systemic subclinical inflammation and immune activation linked to adolescent obesity.
Remediation of intramacrophageal Shigella dysenteriae type 1 by probiotic lactobacilli isolated from human infants' stool samples
Authors: Trikha Radhika , Rishi Praveen , Tewari Rupinder
Published: December 2024

Background & objectives:

Shigella dysenteriae is one of the most virulent pathogens causing bacillary dysentery and is responsible for high mortality in infants. To reduce the load of antibiotic therapy for treating shigellosis, this study was carried out to assess the ex vivo effect of novel probiotic lactobacilli, isolated from infant's stool samples, on killing S. dysenteriae type 1 residing in the rat macrophages.

Methods:

Stool samples from infants were collected, processed for the isolation of lactobacilli and screened for the probiotic attributes (acid tolerance, bile tolerance, ability to adhere intestinal cells and anti-S. dysenteriae activity). The effect of cell-free supernatant of lactobacilli on Shigella- infected macrophages in terms of phagocytic ability, extent of lipid peroxidation, nitrite, superoxide dismutase and glutathione levels was evaluated.

Results:

Based on the probiotic attributes, three lactobacilli were isolated from the stool samples of infants. Using classical and molecular tools, these isolates were identified as Lactobacillus pentosus, L. Paraplantarum and L. rhamnosus. All the three lactobacilli had the ability to kill intramacrophage S. dysentriae type 1. The anti-Shigella activity of the probiotic lactobacilli was attributed to increased antioxidative ability and decreased free radical production by the infected macrophages.

Interpretation & conclusions:

Probiotic cocktail of L. pentosus, L. paraplantarum and L. rhamnosus showed ex vivo killing of S. dysenteriae residing inside the rat macrophages significantly. This cocktail has the potential to be used as a natural alternative for treating S. dysenteriae infection, especially in infants, however, further studies need to be done to confirm these finding in vivo.
Interferon-γ-inducible protein-10 in chronic hepatitis C
Authors: Crisan Dana , Grigorescu Mircea Dan , Radu Corina , Suciu Alina , Grigorescu Mircea
Published: December 2024

Background & objectives:

One of the multiple factors contributing to virological response in chronic hepatitis C (CHC) is interferon-gamma-inducible protein-10 (IP-10). Its level reflects the status of interferon-stimulated genes, which in turn is associated with virological response to antiviral therapy. The aim of this study was to evaluate the role of serum IP-10 levels on sustained virological response (SVR) and the association of this parameter with insulin resistance (IR) and liver histology.

Methods:

Two hundred and three consecutive biopsy proven CHC patients were included in the study. Serum levels of IP-10 were determined using ELISA method. IR was evaluated by homeostasis model assessment-IR (HOMA-IR). Histological features were assessed invasively by liver biopsy and noninvasively using FibroTest, ActiTest and SteatoTest. Predictive factors for SVR and their interrelations were assessed.

Results:

A cut-off value for IP-10 of 392 pg/ml was obtained to discriminate between responders and non-responders. SVR was obtained in 107 patients (52.70%). Area under the receiver operating characteristic curve for SVR was 0.875 with a sensitivity of 91.6 per cent, specificity 74.7 per cent, positive predictive value 80.3 per cent and negative predictive value 88.7 per cent. Higher values of IP-10 were associated with increasing stages of fibrosis (P<0.01) and higher grades of inflammation (P=0.02, P=0.07) assessed morphologically and noninvasively through FibroTest and ActiTest. Significant steatosis and IR were also associated with increased levels of IP-10 (P=0.01 and P=0.02). In multivariate analysis, IP-10 levels and fibrosis stages were independently associated with SVR.

Interpretation & conclusions:

Our findings showed that the assessment of serum IP-10 level could be a predictive factor for SVR and it was associated with fibrosis, necroinflammatory activity, significant steatosis and IR in patients with chronic HCV infection.
Genital tuberculosis in females
Authors: Grace G. Angeline , Devaleenal D. Bella , Natrajan Mohan
Published: December 2024

The morbidity and mortality due to tuberculosis (TB) is high worldwide, and the burden of disease among women is significant, especially in developing countries. Mycobacterium tuberculosis bacilli reach the genital tract primarily by haematogenous spread and dissemination from foci outside the genitalia with lungs as the common primary focus. Genital TB in females is a chronic disease with low-grade symptoms. The fallopian tubes are affected in almost all cases of genital TB, and along with endometrial involvement, it causes infertility in patients. Many women present with atypical symptoms which mimic other gynaecological conditions. A combination of investigations is needed to establish the diagnosis of female genital TB (FGTB). Multidrug anti-TB treatment is the mainstay of management and surgery may be required in advanced cases. Conception rates are low among infertile women with genital TB even after multidrug therapy for TB, and the risk of complications such as ectopic pregnancy and miscarriage is high. More research is needed on the changing trends in the prevalence and on the appropriate methods for diagnosis of FGTB.
Effect of six-month use of oral contraceptive pills on plasminogen activator inhibitor-1 & factor VIII among women with polycystic ovary syndrome
Authors: Yousuf Syed Douhath , Ganie Mohammad Ashraf , Jeelani Samoon , Mudassar Syed , Shah Zaffar Amin , Zargar Mohammad Afzal , Amin Shajrul , Wani Imtiyaz Ahmad , Rashid Fouzia
Published: December 2024

Background & objectives:

Polycystic ovary syndrome (PCOS) is an endocrinopathy warranting lifelong individualized management by lifestyle and pharmacological agents mainly oral contraceptive pills (OCPs). This study was aimed to report the impact of six-month OCP use on plasminogen activator inhibitor-1 (PAI-1) and factor VIII (FVIII) in women with PCOS.

Methods:

PCOS women diagnosed on the basis of Rotterdam 2003 criteria, either treated with OCPs (ethinyl estradiol-0.03 mg, levonorgestrel-0.15 mg) for a period of six months (n=40) or drug-naïve (n=42), were enrolled in this study. Blood was drawn to estimate glucose, insulin levels and lipid profile. Chemiluminescence immunoassays were used to measure hormones (LH, FSH, PRL, T4). Plasma levels of PAI-I and FVIII were measured by commercially available kits.

Results:

Menstrual regularity, Ferriman-Gallwey score and serum total testosterone significantly improved in the OCP group compared to drug-naïve group (P<0.01). No significant difference was observed in PAI-1 levels of the two groups; however, significant decrease in FVIII levels was observed in OCP group as compared to drug-naïve group. PAI-1 levels of OCP group correlated positively with blood glucose two hours, triglycerides and insulin two hours, while FVIII levels of OCP group correlated negatively with fasting insulin and homoeostatic model assessment-insulin resistance.

Interpretation & conclusions:

OCPs use has differential effect on pro-coagulant markers among women with PCOS. Well-designed, long-term, prospective, large-scale studies are prerequisite to elucidate the efficacy and safety of OCP in the treatment of PCOS.
Preclinical evaluation of hydrogel sealed fluropassivated indigenous vascular prosthesis
Authors: Unnikrishnan Madathipat , Umashankar P.R. , Viswanathan Sidharth , Savlania Ajay , Joseph Roy , Muraleedharan C.V. , Agrawal Vivek , Shenoy Sachin J. , Krishnan Lissy K. , Mohanan P.V. , Sabareeswaran A.
Published: December 2024

Background & objectives:

Polyethylene terephthalate (PET) graft, designed and developed at our institute for vascular reconstruction, is porous to promote optimal incorporation and neointima formation, requiring pre-clotting or biomodification by sealing the pores before implantation. The objective of this study was to characterize, test and perform preclinical evaluation of hydrogel (alginate dialdehyde cross-linked gelatin) sealed fluoropassivated PET vascular prosthesis in pig model, so as to avoid pre-clotting, for its safety and efficacy before employing the indigenous and less expensive graft for clinical use.

Methods:

Hydrogel sealed, fluoropassivated PET vascular prosthesis were tested for haemocompatibility and toxicity followed by small animal toxicology tests and in vivo experiments in pigs receiving implantation at thoracic aorta. All 33 animals received test as well as control grafts with a plan for phased explantation at 2, 12 and 26 weeks. All animals underwent completion angiogram at the end of procedure as well as before graft explantation.

Results:

Haemocompatibility tests for haemolysis and toxicity tests showed no adverse events in tested mice and rabbits. Completion angiogram showed intact anastamosis and patent graft in each animal in post-operative period and at explantation. Gross and histopathological examination showed well-encapsulated grafts, clean glistening neointima and no evidence of thrombus in both test and control grafts.

Interpretation & conclusions:

Hydrogel sealed, fluoropassivated PET vascular prosthesis was found non-toxic, haemocompatible and remained patent in in vivo studies at planned intervals.
Approaches used to improve epigenetic reprogramming in buffalo cloned embryos
Authors: Saini Monika , Selokar Naresh L.
Published: December 2024

The reproductive cloning in buffalo in India has been started using a simplified somatic cell nuclear transfer technique named handmade cloning. Since the birth of first cloned female buffalo in 2009, a number of buffalo clones have been produced in India by utilizing different types of donor cells such as ear cells, embryonic stem cells, semen somatic cells and urine somatic cells. The use of buffalo cloning on a large scale is restricted due to low pregnancy rates and poor calf survival. Considerable attempts have been made to improve the overall buffalo cloning efficiency, particularly by modifying epigenetic reprogramming of cloned embryos. Previous studies have demonstrated that chemical epigenetic modifiers such as trichostatin A and 5-aza-2’-deoxycytidine, m-carboxycinnamic acid bishydroxamide can be used to treat donor somatic cells and reconstructed fused embryos to correct the epigenetic reprogramming to enhance the overall cloning efficiency in terms of live birth rates.
Socio-demographic determinants of out-of-pocket health expenditure in a rural area of Wardha district of Maharashtra, India
Authors: Loganathan Karthiyayini , Deshmukh Pradeep R. , Raut Abhishek V.
Published: December 2024

Background & objectives:

In India, health expenditure accounts for less than 5 per cent of the Gross Domestic Product and the level of out-of-pocket (OOP) spending is 69.5 per cent of total health expenditures. OOP expenditure exacerbates poverty and has a negative impact on equity and can increase the risk of vulnerable groups slipping into poverty. This study was conducted to estimate the OOP expenditure on health and catastrophic health expenditure and their socio-demographic determinants in a rural area of Maharashtra, India.

Methods:

This was a prospective observational study involving monthly follow up visits, done in 180 households of three villages under a primary health centre in Wardha district, India.

Results:

Of the 180 families, 18.9 per cent had catastrophic health expenditure over a period of one year. The median total out-of-pocket health expenditure was ‘1105.00 with median medical expenditure being ‘863.85 and median non-medical health expenditure being ‘100.00. A total of 151 (83.9%) had enough money, 27 (15%) borrowed money and two (1.1%) of them sold assets. The significant correlates for the ratio of out-of-pocket health expenditure to total annual income of the family were the occupation of head of family, caste category and type of village. The significant correlate for catastrophic health expenditure was type of village.

Interpretation & conclusions:

Around one-fifth of the households had catastrophic health expenditure. People with no healthcare facility located in their village had higher odds of having catastrophic health expenditure. Private providers were preferred for the treatment of acute illnesses and medical college hospitals for hospitalization.
Prenatal diagnosis of steroid 21-hydroxylase-deficient congenital adrenal hyperplasia
Authors: Dubey Sudhisha , Tardy Veronique , Chowdhury Madhumita Roy , Gupta Neerja , Jain Vandana , Deka Deepika , Sharma Pankaj , Morel Yves , Kabra Madhulika
Published: December 2024

Background & objectives:

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder with a wide range of clinical manifestations. The disease is attributed to mutations in CYP21A2 gene encoding 21-hydroxylase enzyme. In view of severe phenotype in salt-losing cases, issues related to genital ambiguity in girls and precocity in boys, most families opt for prenatal testing and termination of affected foetus. CAH can be diagnosed in utero through direct molecular analysis of CYP21A2 gene, using DNA extracted from foetal tissues or cells obtained from chorionic villus sampling or amniocentesis. The objective of this study was to evaluate the feasibility and accuracy of prenatal diagnosis (PND) using sequencing and multiplex ligation probe amplification (MLPA) methods in families at risk for CAH.

Methods:

Fifteen pregnant women at risk of having an affected offspring with CAH were included in this study. Ten families had previous affected children with salt-wasting/simple virilising form of CAH and five families did not have live children but had a high index of suspicion for CAH in previous children based on history or records. Mutation analysis was carried out by Sanger sequencing and MLPA method.

Results:

Seven different mutations were identified in 15 families. Deletions and I2g mutation were the most common. Of the 15 foetuses analyzed, nine were unaffected while six were affected. Unaffected foetuses were delivered, they were clinically normal and their genotype was found to be concordant to the prenatal report. All except two families reported in the second trimester. None of the couples opted for prenatal treatment.

Interpretation & conclusions:

Our preliminary findings show that PND by direct mutation analysis along with MLPA is a feasible strategy that can be offered to families at risk.
Identification of a novel homozygous mutation in transmembrane channel like 1 (TMC1) gene, one of the second-tier hearing loss genes after GJB2 in India
Authors: Singh Pawan Kumar , Ghosh Manju , Sharma Shipra , Shastri Shivaram , Gupta Neerja , Chowdhury Madhumita Roy , Anand Anuranjan , Kabra Madhulika
Published: December 2024

Background & objectives:

Hearing impairment is a common and heterogeneous sensory disorder in humans. Among about 90 genes, which are known to be associated with hearing impairment, mutations in the GJB2 (gap junction protein beta 2) gene are the most prevalent in individuals with hereditary hearing loss. Contribution of the other deafness-causing genes is relatively poorly understood. Here, we present our findings on two families with transmembrane channel like 1 (TMC1) gene variants of the 47 families with nonsyndromic hearing loss (NSHL) studied.

Methods:

Forty seven families including 26 consanguineous families with at least two hearing impaired children and one normal hearing child and 21 non-consanguineous families having at least three hearing impaired children and one normal hearing child were enrolled for this study. Genetic linkage studies were carried out in 41 families that were GJB2 (Connexin 26) negative. Seven polymorphic short tandem repeat markers at the DFNB7/11 locus were studied employing fluorescently labelled markers.

Results:

A novel homozygous missense mutation c.1283C>A (p.Ala428Asp) was identified co-segregating with hearing loss. This change results in substitution of a highly conserved polar alanine to a charged aspartic acid and is predicted to be deleterious. In addition, a previously reported nonsense mutation, p.R34X in TMC1, was found.

Interpretation & conclusions:

While mutations in TMC1 are not as common a cause of NSHL as those in GJB2, TMC1 should be considered for diagnostic investigations in cases of NSHL in GJB2-negative families.
Mutations in OTOF, CLDN14 & SLC26A4 genes as major causes of hearing impairment in Dhadkai village, Jammu & Kashmir, India
Authors: Pandey Nishtha , Rashid Tabassum , Jalvi Rajeev , Sharma Meenakshi , Rangasayee Raghunath , Andrabi Khurshid Iqbal , Anand Anuranjan
Published: December 2024

Background & objectives:

A high incidence of hearing impairment is reported from the village of Dhadkai in the State of Jammu and Kashmir, India. Prevalence of endogamy in this community suggested a common genetic basis for the disorder. A genetic study was undertaken to ascertain the basis for the high incidence of hearing impairment in this region.

Methods:

In a two-step approach to identify the causative mutation/s, a whole-genome-based linkage analysis of an extended family of 45 members was carried out, which included 23 affected and 22 unaffected members. Mutational analysis for the candidate deafness genes helped reveal causative mutations in the family. In addition, seven deafness-causing genes, Cx26, SLC26A4, CLDN14, TMPRSS3, TMC1, TMIE and USH1C, were analyzed in smaller families with hearing impairment.

Results:

In the 45-member extended family, the critical chromosomal region mapped to 2p24-p22. The c.2122C>T (p.R708X) mutation in OTOF in 2p24-p22was identified as being the causal change. Linkage to 2p24-p22 locus was not observed in a particular branch of this extended family. Analysis of seven known deafness-causing genes in this branch revealed a mutation, c.254T>A (p.V85D), in CLDN14. Among seven small families unrelated to the 45-member extended family, hearing loss was attributable to p.R708X in OTOF in three families and to p.V85D in CLDN14 in one family; a new mutation c.1668T>A (p.Y556X) SLC26A4 was identified in two families and the causative change could not be identified in one family.

Interpretation & conclusions:

This study suggested considerable genetic heterogeneity in the causation of hearing loss in Dhadkai. Recessive mutations were observed in at least three genes causing hearing loss: OTOF (p.R708X), SLC26A4 (p.Y556X) and CLDN14 (p.V85D). Mutation p.R708X appeared to be the major cause of hearing impairment in Dhadkai.
Infertility & assisted reproduction
Authors: Sharma Radhey Shyam , Saxena Richa , Singh Rajeev
Published: December 2024

Infertility has always been considered as a social stigma and has often been treated as socially, mentally and physically damaging experience for the childless women rather than man. Fatherhood was more a social rather than biological concept, thereby making childlessness a legitimate ground for divorce and a matter of disgrace for women. Every country has its own set of customs and traditional beliefs for the relief of childlessness. While introducing a second wife was one way to overcome the predicament of childlessness, divorce was also an available choice. There were several myths that contemplated the human concerns and their needs during ancient times. It is evident that types of the infertility and their treatment in the modern era have some historical background and different representations in the ancient civilizations. The present review discusses the historical and modern perspectives of infertility and assisted reproduction and their importance in different cultures.
Socio-economic correlates of bereavement among women - Examining the differentials on social axes
Authors: Acharya Sanghmitra S.
Published: December 2024

Death, disease and disaster can inflict anyone, anywhere and at any time. While occurrence of such an event could be absolved of any selective strike, the outcome reflects otherwise. Historical deprivations experienced by certain populations have caused more bereavement and sorrow to them than those who have experienced lesser or no deprivation. Therefore, the process which shapes the factors to yield such a result is important and needs to be understood for any policy suggestions and programmatic inputs. Loss of pregnancy and newborn inflicts sorrow and bereavement across space, time and social labyrinth. The degree of bereavement is likely to reduce with time, but space and social context govern the response to it. Therefore, factors contributing to the differentials vary in their demographic, social and economic characteristics. The loss of pregnancy and newborn remains inadequately addressed. Family and community play a significant role in coping. While the developed countries have institutional structure to address coping with the loss, the South Asian countries rely heavily on the family and the community for such support. The present review examines these trajectories across social groups.
Cost of delivering secondary-level health care services through public sector district hospitals in India
Authors: Prinja Shankar , Balasubramanian Deepak , Jeet Gursimer , Verma Ramesh , Kumar Dinesh , Bahuguna Pankaj , Kaur Manmeet , Kumar Rajesh
Published: December 2024

Background & objectives:

Despite an impetus for strengthening public sector district hospitals for provision of secondary health care in India, there is lack of robust evidence on cost of services provided through these district hospitals. In this study, an attempt was made to determine the unit cost of an outpatient visit consultation, inpatient bed-day of hospitalization, surgical procedure and overall per-capita cost of providing secondary care through district hospitals.

Methods:

Economic costing of five randomly selected district hospitals in two north Indian States - Haryana and Punjab, was undertaken. Cost analysis was done using a health system perspective and employing bottom-up costing methodology. Quantity of all resources - capital or recurrent, used for delivering services was measured and valued. Median unit costs were estimated along with their 95 per cent confidence intervals. Sensitivity analysis was undertaken to assess the effect of uncertainties in prices and other assumptions; and to generalize the findings for Indian set-up.

Results:

The overall annual cost of delivering secondary-level health care services through a public sector district hospital in north India was

JOURNAL/ijmer/04.03/02223309-201746030-00010/math_10MM1/v/2022-09-30T185254Z/r/image-tiff

11,44,13,282 [US Dollars (USD) 2,103,185]. Human resources accounted for 53 per cent of the overall cost. The unit cost of an inpatient bed-day, surgical procedure and outpatient consultation was

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844 (USD 15.5), i; 3481 (USD 64) and

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170 (USD 3.1), respectively. With the current set of resource allocation, per-capita cost of providing health care through district hospitals in north India was

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139 (USD 2.5).

Interpretation & conclusions:

The estimates obtained in our study can be used for Fiscal planning of scaling up secondary-level health services. Further, these may be particularly useful for future research such as benefit-incidence analysis, cost-effectiveness analysis and national health accounts including disease-specific accounts in India.
Pyrazinamide Resistance: A Major Cause of Switching Shorter to Longer Bedaquiline-based Regimens in Multidrug-resistant Tuberculosis Patients
Authors: Putra Oki Nugraha , Indah Nur , Purnamasari Telly , Larasanti Adi
Published: December 2024

Background:

All-oral regimens, including bedaquiline, are now standard in shorter treatment regimens (STRs) for multidrug-resistant tuberculosis (MDR-TB). Resistance or intolerance to drugs in STR often necessitates a switch to longer treatment regimens (LTRs). This study aims to identify the factors associated with this transition in MDR-TB patients.

Methods:

We conducted a retrospective analysis of medical records from MDR-TB patients treated with STR at Haji Hospital, Surabaya, between January 2022 and January 2023. Data on drug-resistance profiles, determined by drug-susceptibility testing (DST), and line probe assay, as well as adverse effects, were collected.

Results:

Among 20 eligible patients, 8 (40.0%) switched from STR to LTR within the first 4 months. Resistance was observed in 62.5% of these patients for pyrazinamide, 25.0% for high-dose isoniazid, and 12.5% for levofloxacin. The overall prevalence of pyrazinamide resistance was 25.0%. A history of prior antitubercular treatment was significantly associated with pyrazinamide resistance (P = 0.015; RR – 16.000; confidence interval 95% 1.274–200.917).

Conclusion:

Pyrazinamide resistance is a major factor for switching from STR to LTR in MDR-TB patients, particularly among those with previous TB treatment. Rapid DST for pyrazinamide is essential for the early identification of resistance and timely adjustments to treatment regimens.
A Cost-effective Breath-hold Coaching Camera System for Patients Undergoing External Beam Radiotherapy
Authors: Mehta Akash , Horgan Emma , Ramachandran Prabhakar , Noble Christopher
Published: December 2024

Purpose:

Organ motion can significantly affect the accurate delivery of radiation doses to the tumor, particularly for sites such as the breast, lung, abdomen, and pelvis. Managing this motion during treatment is crucial. One strategy employed to manage motion induced from respiration is breath-hold (BH), which enhances the geometric precision of dose delivery. Our institute is transitioning to using the ExacTrac Dynamic system to facilitate patient BH using surface-guided cameras. Only 20% of our linacs are equipped with surface guidance capabilities, and due to a high patient stereotactic throughput, the ability to perform in-bunker coaching for BH patients within the bunker is limited. To address this challenge, a time-of-flight camera (ToF) was developed to coach radiotherapy patients undergoing BH procedures, allowing them to gain confidence in the process outside of the bunker and before treatment.

Methods:

The camera underwent testing for absolute and relative accuracy, responsiveness under various environmental conditions, and comparison with the Elekta Active Breathing Coordinator (ABC) to establish correlation and testing on volunteers independently to assess usability.

Results:

The results showed that the absolute distance measured by the camera was nonlinear due to square light modulation, which was retrospectively corrected. Relative accuracy was tested with a QUASAR motion phantom, with results agreeing to within ± 2 mm. The camera response was found to be unaffected by changes in lighting or temperature, though it overresponded under extreme temperatures. The comparison with the Elekta ABC system yielded comparable results between lung volume and changes in surface distance during BH. All volunteers successfully followed instructions and maintained BH within ± 1 mm tolerance.

Conclusions:

This study demonstrates the feasibility of using a cost-effective ToF camera to coach patients before imaging/treatment, saving valuable LINAC linac and imaging system time.
Machine Learning Approach and Model for Predicting Proton Stopping Power Ratio and Other Parameters Using Computed Tomography Images
Authors: Chika Charles Ekene
Published: December 2024

Purpose:

The purpose of this study was to accurately estimate proton stopping power ratio (SPR), relative electron density ρ
e, effective atomic number (Z
eff), and mean excitation energy (I) using one simple robust model and design a machine learning algorithm that will lead to automation.

Methods:

Empirical relationships between computed tomography (CT) number and SPR, ρ
e (Z
eff) and I were used to formulate a model that predicts all the four parameters using linear attenuation coefficients which can be converted to CT numbers. The results of these models were compared with the results of other existing models. Thirty-three ICRU human tissues were used as modeling data and 12 Gammex inserts as testing data for the machine learning algorithm designed. More ways of tissue classification were introduced to improve accuracy. In the examples, the dual energy methods were implemented using 80 kVp and 150 kVP/Sn.

Results:

The proposed method gave modeling root mean square error (RMSE) near 1% at maximum for the case of SPR and ρ
e for both single and dual-energy CT approaches considered with modeling RMSE of 0.32% for ρ
e and 0.38% for SPR as modeling RMSE with room for improvement (this can be done by adjusting the model number of terms as well as the parameters). The method was able to achieve modeling RMSE of 1.11% for I and 1.66% for Z
ef
f. The mean error for all the estimated quantities was near 0.00%. In most cases, the proposed method has lower testing RMSE and mean error compare to the other methods presented in the study.

Conclusion:

The proposed method proves to be more flexible and robust among all presented methods since it has lower testing error in most cases and can be improved based on data using the machine learning algorithm. The algorithm can also improve estimation by adjusting the model as well as aid in automation and it’s easy to implement.
Comparison of Serum Zinc and Copper Concentrations in Females with Ovarian and Uterine Tumors
Authors: Adhab Hiba Ghmeedh , Mahdi Liwaa Hussein , Al-Hilo Eman M.
Published: December 2024

Background and Aims:

Ovarian and uterine tumors are among the most serious gynecological diseases and the most common cause of mortality globally. In recent times, the role of trace elements in the onset and development of tumors has come under the review. This study aimed to assess the levels of Zn and Cu in the serum of female patients with benign and malignant uterine and ovarian tumors.

Materials and Methods:

One hundred and twenty-four women with benign and malignant ovarian and uterine tumors were eligible for the study. Blood samples were obtained and analyzed using flame-atomic absorption spectroscopy spectrometry in Najaf City, Iraq.

Results:

Serum zinc levels exhibited lower concentration (4.73 ± 1.92) in patients with malignant uterine tumors than those with benign uterine tumors (10.80 ± 1.87, P = 0.000). In contrast, the mean concentration of copper was higher in patients with malignant uterine tumors (110.37 ± 20.05 vs. 103.75 ± 14.34, P = 0.063). The serum zinc concentrations (12.73 ± 5.34 vs. 8.90 ± 2.77, P = 0.001) were higher in patients with malignant ovarian tumors. Furthermore, we found the mean serum copper levels in patients with benign ovarian tumors decreased significantly from (101.86 ± 15.44 to 86.77 ± 21.55, P = 0.002) in female patients with malignant ovarian tumors group.

Conclusions:

Serum concentrations of copper and zinc increased in some study groups and declined in others. The examination of serum trace element concentrations in patients with ovarian and uterus tumors would provide us with insight into a better understanding of the pathogenesis of the tumors and also to distinguish between them.
Magnetic Resonance Thermometry of Focused Ultrasound Using a Preclinical Focused Ultrasound Robotic System at 3T
Authors: Filippou Antria , Evripidou Nikolas , Georgiou Andreas , Georgiou Leonidas , Chrysanthou Antreas , Ioannides Cleanthis , Damianou Christakis
Published: December 2024

Aim:

Focused ultrasound (FUS) therapies are often performed within magnetic resonance imaging (MRI) systems providing thermometry-based temperature monitoring. Herein, MRI thermometry was assessed for FUS sonications executed using a preclinical system on agar-based phantoms at 1.5T and 3T MRI scanners, using the proton resonance frequency shift technique.

Materials and Methods:

Sonications were executed at 1.5T and 3T to assess the system and observe variations in magnetic resonance (MR) thermometry temperature measurements. MR thermometry was assessed at 3T, for identical sonications on three agar-based phantoms doped with varied silica and evaporated milk concentrations, and for sonications executed at varied acoustic power of 1.5–45 W. Moreover, echo time (TE) values of 5–20 ms were used to assess the effect on the signal-to-noise ratio (SNR) and temperature change sensitivity.

Results:

Clearer thermal maps with a 2.5-fold higher temporal resolution were produced for sonications at 3T compared to 1.5T, despite employment of similar thermometry sequences. At 3T, temperature changes between 41°C and 50°C were recorded for the three phantoms produced with varied silica and evaporated milk, with the addition of 2% w/v silica resulting in a 20% increase in temperature change. The lowest acoustic power that produced reliable beam detection within a voxel was 1.5 W. A TE of 10 ms resulted in the highest temperature sensitivity with adequate SNR.

Conclusions:

MR thermometry performed at 3T achieved short temporal resolution with temperature dependencies exhibited with the sonication and imaging parameters. Present data could be used in preclinical MRI-guided FUS feasibility studies to enhance MR thermometry.