Deciphering genetic diversity in conserved cattle bulls to achieve sustainable development goals.

The primary objective of Sustainable Development Goal target 2.5 established by the United Nations is to ensure the preservation of genetic diversity in domesticated animals. The ICAR-National Bureau of Animal Genetic Resources in India has been actively engaged in the conservation of cattle and buffalo bull semen for long-term storage. This present study aimed to assess the genetic diversity present in the conserved cattle bull semen, which would aid in determining the most suitable strategy for future conservation management. A total of 192 bull semen belonging to 19 cattle breeds were selected to evaluate genetic diversity using 17 pairs of FAO recommended microsatellite primers. Total 267 alleles were detected across all the samples which indicates substantial amount of allelic variation is being maintained in conserved bulls. Further, all cattle bulls semen conserved showed higher observed heterozygosity than expected heterozygosity which indicates excess genetic diversity in all the populations. The FST, F IT and FIS value across the loci and population is 0.146 ± 0.009, 0.054 ± 0.038, and - 0.105 ± 0.035, respectively, which suggests lack of inbreeding in conserved cattle bull semen. This study has established genetic diversity in conserved cattle semen samples to achieve sustainable development goals. In addition, it provides compelling evidence that the current approach for conserving cattle bull semen is heading in the correct direction.

Selection of reference genes for normalizing gene expression data across seasons in spermatozoa of water buffalo (Bubalus bubalis).

Selection of the most stably expressed reference genes is key to monitoring accurate target gene expression across any tissue or cell type. The mRNA in spermatozoa stores valuable information related to changes in spermatogenesis due to variations in environmental conditions, especially during heat stress, which affects various sperm functions. Semen quality in buffalo bulls is significantly influenced by the seasons. In the study, a panel of nine genes was evaluated to identify the most stably expressed internal control gene (ICG) for the normalization of real-time gene expression data generated across various seasons for Murrah buffalo bulls' spermatozoa. Sperm cells were purified from the semen samples collected during different seasons, with temperature-humidity index (THI) ranging from 80.80 ± 1.47 (hot summer) to 55.88 ± 1.98 (winter), using the BoviPure™ gradient purification method. The RNA isolated from the purified spermatozoa fraction was quality checked prior to reverse transcription and subjected to qPCR (quantitative real-time PCR) based expression analysis. An automated 'endoGene' pipeline was employed to apply the geNorm, NormFinder, and BestKeeper algorithms for data analysis. The result indicated that GAPDH and PP1A were the most stably expressed among the gene panel, whereas ATPSF1 and ACTB were the two least stable expressed reference genes. Further, the most suitable ICGs identified were validated by normalization of real time expression data of heat stress and sperm quality genes, HSFY2 and AKAP4, respectively. The genes identified would help in generating the most reliable results for the expression profiling of the genes dictating sperm quality and heat stress cope-up mechanism in buffalo spermatozoa, collected during different seasons.

Hyper- and Hypopigmentation in a Subject with Fitzpatrick Skin Phototype VI: A New Treatment Option.

Background: Laser therapies can cause hyper- and hypopigmentation of the skin. There is little evidence in the literature of effective treatments for these types of problems in Fitzpatrick skin phototypes IV-VI. The main aim of this retrospective study is to evaluate the effects of a new therapy that combines the application of electromagnetic fields and vacuum on a subject with Fitzpatrick skin phototype VI, who presented extensive, laser-induced facial dyschromia. The secondary aim is to test the effectiveness of a free imaging software for assessing skin pigmentation. Methods: The level of improvement after therapy was evaluated, with a 5-point Likert scale, one month after the end of the treatment by the subject and by the doctor who performed the treatment, and by two blinded dermatologists. With the free software, a three-dimensional reconstruction of the treated area and the evaluation of the color distribution were performed. Results: Both the subject and the doctors involved in the study positively evaluated the effects of the treatment. The image analysis highlighted the homogenization of the skin color in the treated area. Conclusions: The combination of electromagnetic fields and vacuum for dyschromia treatments appears promising. The new method of assessing melanin levels resulted particularly efficient.

Development and Validation of Total Pain Scale for Evaluation of Total Pain in Cancer Patients.

Objectives: Cancer pain has all the components of total pain such as physical, social, psychological, and spiritual. These components contribute to the overall pain experience in cancer patients. Many instruments have been developed till date to assess the effect of pain in cancer patients but none of the instruments include all components of total pain. In this article, we describe the development and validation of the total pain scale (TPS) for the evaluation of total pain in cancer patients with pain. This study aimed to develop and validate a questionnaire for the evaluation of total pain in cancer patients with pain. Material and Methods: This study included a review of existing pain questionnaires for cancer pain for item pool generation. Items were generated in the Hindi language by six stakeholders to create 23 items to develop TPS. TPS was applied to 300 Hindi-speaking cancer patients. Bivariate correlation was used to reduce the number of items as well as construction of the domain followed by factor analysis to finalise TPS. Confirmatory factor analysis (CFA) was performed for testing the validity and reliability of TPS. Results: TPS is an 18-item scale composed of four domains (physical, social, spiritual and psychological domain). The internal consistency of TPS and its subscales was found to be very good (a = 0.84-0.88). CFA and structural equation modeling Goodness of fit has confirmed that model 4 is the best fit as it yielded a lesser root-mean-squared error of approximation value of 0.062 and a greater comparative fit index, Tucker-Lewis index value of 0.944. The convergent and divergent validity of TPS and its domain was good. Conclusion: This study reports TPS to be a brief (18-item), valid, and reliable questionnaire in the Hindi language for assessment of all components of total pain in cancer patients with pain.

Development and validation of most efficient RNA isolation method from buffalo bull spermatozoa.

BACKGROUND: Being highly fragmented and low in concentration, isolation of good quality RNA from sperm cells is a big challenge. Attempts have been made to evaluate various sperm RNA isolation methods from purified buffalo bull sperm cells. METHODS: Both, non-membrane and membrane-based methods have been evaluated for isolating RNA from Murrah buffalo sperms and compared for their respective efficacies. The traditional TRIzol, TRIzol-heat lysed (H-TRIzol) and cocktail of TCEP-RLT lysis buffer (Qiagen RNeasy mini kit)-TRIzol (C-TRIzol) based isopropanol isolation methods have been evaluated. RESULTS: H-TRIzol yielded best results among conventional methods. The combined T-RLT RNA isolation protocol yielded best quality and quantity compared to other membrane-based methods, due to high lytic property of cocktail of lysis reagents, necessary for complete breakdown of sperm membrane and RNA binding membrane for RNA isolation. Combined lysis performed by treatment with RLT-T and T-RLT differing in order of reagents used were also evaluated. T-RLT combination giving better results compared to RLT-T due to high gDNA contamination and membrane clogging in later protocol steps. CONCLUSION: Overall, in terms of total RNA quantity and quality per million spermatozoa, the heat-lysed TRIzol method (H-TRIzol) performs best among RNA separation techniques employed and is also quite easy to perform. This comparative evaluation of sperm RNA isolation protocols can be useful in deciding the best protocol for isolation of good quality and high concentration sperm RNA from buffalo semen, for transcriptome and other downstream studies.

Spinocerebellar Ataxia 12 Patients have better Quality of Life than Spinocerebellar Ataxia 1 and 2.

Background: Spinocerebellar ataxia is a neurodegenerative disease. Information on comparative assessment of quality of life (QoL) among SCAs, particularly SCA 12, is scarce. We aimed to compare health-related QoL in SCA 1, 2 and 12. Methods: We conducted a cross-sectional study among individuals with genetically-confirmed SCAs. Ataxia severity was assessed using Brief Ataxia Rating Scale (BARS), independence in activities of daily living (ADL) using Katz index (Katz ADL) and depression using Beck's Depression Inventory-II (BDI-II). QoL was assessed via Short Form Health Survey version 2.0 (SF-36). Results: We enrolled 89 individuals (SCA1 = 17, SCA2 = 43, SCA12 = 29; 56% males). Mean age at onset (41.0 ± 11.6 for SCA12 versus 24.9 + 7.0 for SCA1 and 28.8 ± 9.8 years for SCA2) was significantly higher among SCA12. SCA12 had lower BARS (mean score 4.1 ± 4.5 versus 10.6 ± 4.6 for SCA1 and 12.5 ± 4.5 for SCA2). SCA12 scored better on all SF-36 subdomains including Physical (PCS) and Mental Component Summary (MCS) scores. PCS score amongst SCA12 was 44.4 ± 9.0 versus 30.4 ± 9.1 for SCA1 and 33.3 ± 8.9 for SCA2. MCS score for SCA12 was 51.4 ± 11.4 versus 41.8 ± 11.5 for SCA1 and 41.8 ± 11.2 for SCA2. SCA12 had lower mean BDI scores (5.0 ± 6.0) versus SCA1 (9.5 ± 11.6) and SCA2 (10.9 ± 10.3). BARS and BDI emerged as significant predictors of most SF-36 subdomains. Conclusions: Our study suggests that despite older age and comparable disease duration, SCA12 patients experience better QoL, less severe depression and ataxia versus SCA1 and SCA2. Severity of ataxia and depression are significant predictors of QoL among the three SCA types.

Evidence for intensive LDL-C lowering for acute coronary syndrome: Recommendations from the Lipid Association of India.

Patients with acute coronary syndrome (ACS) have a high risk of subsequent adverse cardiovascular outcomes, particularly within the first 30 days. Although it is well documented that initiation of statin therapy in the setting of ACS improves short- and long-term cardiovascular outcomes, and achievement of lower levels of low density lipoprotein cholesterol (LDL-C) incrementally improves outcomes, many patients with ACS have persistent hypercholesterolemia after discharge from the hospital. This is a missed opportunity that prompted the Lipid Association of India to develop recommendations for earlier initiation of more aggressive LDL-C lowering treatment, particularly for patients of South Asian descent who are well-documented to have earlier onset of more aggressive atherosclerotic cardiovascular disease. The Lipid Association of India recommends individualized aggressive LDL-C goals after ACS, which can be rapidly achieved with high intensity statin therapy and subsequent goal-directed adjunctive treatment with ezetimibe and PCSK9 inhibitors. Improved treatment of hypercholesterolemia achieved within weeks after ACS has the potential to reduce the high rate of morbidity and mortality in these high risk patients.

Hindi translation and reliability testing of the international spinal cord injury quality of life basic data set version 1.0.

STUDY DESIGN: Methodological study design: translation and test-retest reliability testing. OBJECTIVES: To translate International Spinal Cord Injury Quality of Life Basic Data Set (ISCIQoLBDS) Version 1.0 into Hindi language and conduct reliability testing of Hindi ISCIQoLBDS (hISCIQoLBDS). SETTING: The study was conducted at Indian Spinal Injuries Centre, New Delhi, India. METHODS: The study was done in two phases-translation of ISCIQoLBDS Version 1.0 into Hindi language and reliability testing of hISCIQoLBDS. In the translation phase, the data set was forward translated by two independent professional translators. Then backward translation was done by another pair of professional translators to ensure the essence of the data set. For their feedback, field testing of hISCIQoLBDS was done on ten individuals with Spinal Cord Injury (SCI). After this, an expert panel reviewed their recommendations, and the final hISCIQoLBDS was administered on 50 participants with SCI for test-retest reliability of the data set. RESULTS: hISCIQoLBDS was found to be equivalent to ISCIQoLBDS Version 1.0 on back-translation. It showed high test-retest reliability for each item in the data set. Intraclass Correlation Coefficient (95% CI) for items of hISCIQoLBDS was within the range of (0.91-0.98). CONCLUSION: The hISCIQoLBDS is a stepwise systematic Hindi translation of the ISCIQoLBDS Version 1.0 for the Hindi literate population with high test-retest reliability. It can facilitate international data exchange on the quality of life (QoL) of Hindi literate individuals with SCI.

Management of Dyslipidaemia for the Prevention of Stroke: Clinical Practice Recommendations from the Lipid Association of India.

Stroke is the second most common cause of death worldwide. The rates of stroke are increasing in less affluent countries predominantly because of a high prevalence of modifiable risk factors. The Lipid Association of India (LAI) has provided a risk stratification algorithm for patients with ischaemic stroke and recommended low density lipoprotein cholesterol (LDL-C) goals for those in very high risk group and extreme risk group (category A) of <50 mg/dl (1.3 mmol/l) while the LDL-C goal for extreme risk group (category B) is ≤30 mg/dl (0.8 mmol/l). High intensity statins are the first-line lipid lowering therapy. Nonstatin therapy like ezetimibe and proprotein convertase subtilisin kexin type 9 (PCSK9) inhibitors may be added as an adjunct to statins in patients who do not achieve LDL-C goals with statins alone. In acute ischaemic stroke, high intensity statin therapy improves neurological and functional outcomes regardless of thrombolytic therapy. Although conflicting data exist regarding increased risk of intracerebral haemorrhage (ICH) with statin use, the overall benefit risk ratio favors long-term statin therapy necessitating detailed discussion with the patient. Patients who have statins withdrawn while being on prior statin therapy at the time of acute ischaemic stroke have worse functional outcomes and increased mortality. LAI recommends that statins be continued in such patients. In patients presenting with ICH, statins should not be started in the acute phase but should be continued in patients who are already taking statins. ICH patients, once stable, need risk stratification for atherosclerotic cardiovascular disease (ASCVD).

Pallidal Deep Brain Stimulation for KMT2B Related Dystonia in An Indian Patient.

Outcomes of pallidal stimulation in KMT2B dystonia have been infrequently reported prospectively. We report the six-month outcomes of bilateral GPi DBS in an Asian Indian patient with early-onset generalized dystonia associated with a novel heterozygous variant in the KMT2B gene.

Educating Caregivers to Reduce Complications and Improve Outcomes of Stroke Patients (ECCOS) - A Cluster-Randomized Trial.

OBJECTIVES: Stroke constitutes a significant public health problem in developing countries. Caregivers provide an important support system for patient care but usually lack knowledge and skill to attend their stroke patients. We assessed whether a caregiver-directed educational intervention would reduce hospital-acquired complications and improve stroke patients' outcomes. MATERIALS AND METHODS: We randomly assigned two Neurology inpatient wards to receive either standard care or an educational intervention. The coprimary outcomes included incidence of hospital-acquired complications and in-hospital mortality. Secondary outcomes included the modified Rankin Scale and mortality at three months. RESULTS: Among 164 patients recruited, 82 received intervention, and standard care each. The mean (Standard deviation) Glasgow coma scale of patients was 11.01 (3.4), and National Institute of Health Stroke Scale was 19.17 (8.54). The incidence of complications (72 in the intervention versus 81 in the control group; p=0.56) was not different. Ten patients (12.2%) in the intervention group and 16 (19.5%) in the control group (p=0.20) died in-hospital. Twenty patients (27.8%) in the intervention and twelve (18.2%) in the control group attained modified Rankin Scale 0-2 at three months (p=0.12). The mortality at three months (20 [24.4%] in the intervention versus 25 [30.5%] in the control group) was not different (p=0.38). The intervention group had fewer complications (42 versus 68 in the control group; p=0.01) during the initial ten days of hospital stay, but adjusted analysis revealed no difference. CONCLUSION: A structured educational intervention did not reduce the incidence of hospital-acquired complications, mortality, or morbidity. However, there was a trend towards fewer complications in the initial days of hospital stay. Extended hospital stay, caregiver fatigue, and dilution of the intervention over time might be reasons for the apparent lack of effect. CLINICAL TRIAL REGISTRATION-URL: http://www.ctri.nic.in. Unique identifier: CTRI/2018/11/016312.

Effect of Passive Stretching of Respiratory Muscles on Chest Expansion and 6-Minute Walk Distance in COPD Patients.

BACKGROUND: Chronic obstructive pulmonary disease (COPD) is a major cause of morbidity and mortality worldwide. Hyperinflation of the lungs leads to a remodeling of the inspiratory muscles that causes postural deformities and more labored breathing. Postural changes include elevated, protracted, or abducted scapulae with medially rotated humerus, and kyphosis that leads to further tightening of respiratory muscles. As the severity of the disease progresses, use of the upper limbs for functional tasks becomes difficult due to muscle stiffness. There are various studies that suggest different rehabilitation programs for COPD patients; however, to the best of our knowledge none recommends passive stretching techniques. The aim of this study was to assess the effect of respiratory muscle passive stretching on chest expansion and 6-min walk distance (6MWD) in patients with moderate to severe COPD. METHODS: Thirty patients were divided into two groups, experimental (n = 15) and control (n = 15). The experimental group received a hot pack followed by stretching of the respiratory muscles and relaxed passive movements of the shoulder joints. The control group received a hot pack followed by relaxed passive movements of the shoulder joints. RESULTS: In the control group, there was no difference in chest expansion at the levels of both the axilla and the xiphisternum or in 6MWD between baseline and post treatment (p > 0.05). In the experimental group, chest expansion at the level of the axilla (p < 0.05) and 6MWD (p < 0.001) were significantly higher post treatment, while there was no difference in chest expansion at the level of the xiphisternum (p > 0.05). A comparison between control and experimental groups showed that chest expansion at the level of the axilla (p < 0.05) and 6MWD (p < 0.01) were significantly higher in the experimental group, while there was no difference in chest expansion at the level of the xiphisternum (p > 0.05). CONCLUSIONS: Although COPD is an irreversible disease, results of this study indicate that passive stretching of respiratory muscles can clinically improve the condition of such patients, especially in terms of chest expansion and 6MWD. Given the good effects of muscle stretching and the fact that such an exercise is harmless, clinicians and physiotherapists should consider including passive stretching of respiratory muscles in the rehabilitation plan of COPD patients.

Development and Validation of Quality of Life in Parkinson's Disease Instrument.

CONTEXT: Parkinson's disease (PD) has devastating effects on quality of life (QoL), but there is no instrument that has been developed for Hindi-speaking persons with Parkinson's disease (PWP). OBJECTIVE: The objective of this study was to develop and validate an instrument in Hindi language to measure health-related QoL (HRQoL) in PWP. SUBJECTS AND METHODS: Literature review and interviews of stakeholders were done to create a pool of 68 items to develop a questionnaire. Self-rated global QoL item was also included in the questionnaire. Questionnaire was tested on 300 Hindi-speaking PWP. Item reduction was achieved through factor analysis and clinimetrics to finalize the QoL in PD (QLPD) instrument. Validity and reliability of the QLPD were tested. RESULTS: "QLPD" is a 45-item instrument with nine subscales, namely, activities of daily living, mobility, psychological, fear, social, family, treatment, finance, and nonmotor symptom subscales. Internal consistency of QLPD's summary score and all subscales except treatment subscale was high (α = 0.74-0.94). Intraclass correlation coefficient between summary score and global QoL was 0.79. Summary score and subscale scores were significantly different (P < 0.0001) for predefined five categories on global QoL (very good to very bad). QLPD subscales exhibited good convergent and divergent validity with subscales of 39-item PD questionnaire and short form-36 scale. Higher Hoehn and Yahr stage, lower monthly per capita income, and higher levodopa equivalent daily dosage were found to be independently associated with poor HRQoL. CONCLUSION: QLPD is a valid and reliable instrument to measure HRQoL in Hindi-speaking PWP.

Prevalence of oral parameters in smokeless tobacco-associated precancer.

AIM: To evaluate and correlate the prevalence of Candida species, salivary flow rate, pH, and buffer capacity of oral cavity in subjects with leukoplakia, tobacco pouch keratosis, and healthy controls. MATERIALS AND METHODS: In this prospective study, a total of 25 cases of leukoplakia, 25 of tobacco pouch keratosis, and 50 of healthy controls were studied. Sabouraud's dextrose agar (SDA) for the identification of Candida and HiCrome Candida differential Agar for the species identification of Candida were used. Calculation of salivary flow rate, pH, and buffer capacity was done with Saliva-Check Buffer kit (GC). RESULTS: The prevalence of Candida carriage obtained was considerably greater in the study group associated with smokeless tobacco use. NonCandida albicans Candida species predominated over Candida albicans in speciation among study groups on HiCrome agar and Candida albicans predominated among control groups. Statistically significant values were obtained by comparing the salivary flow rate, pH, and buffer capacity between the study groups and control groups. CONCLUSION: The present study indicated Candida prevalence was seen more in study group than healthy control groups, suggesting increased Candida in smokeless tobacco users. The prevalence of NonCandida albicans Candida species among leukoplakia and tobacco pouch keratosis indicates that there is pervasiveness of significant NonCandida albican Candida species in relation to salivary flow rate and buffer capacity. Therefore, the choice of antifungal treatment promptly must deal with not only resistance but, similarly, with the transformation in predominance from Candida albicans to NonCandida albicans Candida species. The numbers of sample study were considerably less to conclude such result hence, numbers of studies should be performed at larger scale in the particular area.

What Should Constitute a Health Related Quality of Life Scale for Parkinson's Disease?

INTRODUCTION: Health Related Quality of Life (HRQoL) in Parkinson's Disease (PD) lacks universally agreed definition and its components. A conceptual framework helps in understanding the essential domains and their inter-relationship while developing patient reported outcome measure. AIM: To construct a conceptual framework for developing HRQoL scale in PD. MATERIALS AND METHODS: A panel of 7 experts extracted 6 major domains for measuring HRQoL in PD from literature review including 8 disease specific scales for PD, 2 books on quality of life, 5 websites, relevant articles; and content analysis of semi-structured interviews of stakeholders (28 persons with PD, 6 caregivers and 9 clinicians). Extracted domains were subjected to consensus of stakeholders (7 persons with PD, 7 caregivers and 7 clinicians) on 7 point Likert scale. The panel constructed a conceptual framework and a definition of HRQoL in PD in context of available guidelines for developing patient reported outcome measures. RESULTS: The extracted domains were physical, non motor symptom, psychological, family/social, finance and treatment domains. Median of all six domains on 7 point Likert scale was 7 and inter-quartile distance was <1 in consensus agreement. The conceptual framework consisted of indicator domains and causal domains. Indicator domains (physical, psychological, and social and family) estimate the influence of causal domains (motor symptoms, non motor symptoms, finance and treatment) on quality of life. The definition emphasizes upon the person's perception of their symptoms and its impact on their lives. CONCLUSION: This study defined and developed a conceptual framework for HRQoL scale for PD.

The effect of step-synchronized vibration on patients with Parkinson's disease: case studies on subjects with freezing of gait or an implanted deep brain stimulator.

Identifying noninvasive treatments to alleviate the symptoms of Parkinson's disease (PD) is important to improving the quality of life for those with PD. Several studies have explored the effects of visual, auditory, and vibratory cueing to improve gait in PD patients. Here, we present a wireless vibratory feedback system, called the PDShoe, and an associated intervention study with four subjects. The PDShoe was used on two control subjects, one subject with PD who experienced freezing of gait (FOG), and one subject with PD with an implanted deep brain stimulator (DBS). This short intervention study showed statistically significant improvements in peak heel pressure timing, peak toe pressure timing, time on the heel sensor, and stance to swing ratio after just one week of twice-daily therapy. Thus, step-synchronized vibration applied to the feet of patients with PD may be an effective way to improve gait in those subjects.

An untethered shoe with vibratory feedback for improving gait of Parkinson's patients: the PDShoe.

Subjects with Parkinson's disease (PD) often have trouble with ambulation. Some research has shown that auxiliary cueing in the form of vision, audio, or vibration can improve the gait of PD patients. We have developed a new vibratory feedback shoe, known as the PDShoe, which builds on existing research. This device can modulate both frequency and amplitude of feedback for the wearer. It is untethered, and thus can be worn during daily activities. Pressure and tactor status data are transmitted wirelessly over a personal area network to a notebook computer. This computer can also control the tactor actuation and stimulation frequency. This paper describes the details of design and construction of the PDShoe. A preliminary evaluation with four Parkinson's disease subjects and two healthy subjects is included to show the usability of the device.

Tumoral calcinosis with unusual presentation. A case report.

A case of multiple para-articular calcific masses involving the elbow, hand, back, knee and the feet was encountered. Pathology after surgical excision of all the masses revealed tumoral calcinosis. The unusual feature was the huge size of the lumbar and knee masses, and the distal location of the swellings in the hand and the foot; there was no disturbance of calcium and phosphorus metabolism, which was an unusual feature of the condition in this patient.