Dr. Puneetpal singh - Academia.edu (original) (raw)

Papers by Dr. Puneetpal singh

Osteoporosis, Osteoarthritis and Rheumatoid Arthritis: An Agonizing Skeletal Triad

It has been suggested that South Asian patients with RA report increased levels of pain and demon... more It has been suggested that South Asian patients with RA report increased levels of pain and demonstrated increased disease severity as compared to the British white population. This study assesses the self-perceived quality of life in South Asian RA patients compared to White British RA patients. 131 South Asian (SA) and 134 British White (BW) RA patients from the East Midlands participated in the study as a part of ongoing studies on RA pathogenesis by completing the qualitative lifestyle questionnaire. The SA patients developed RA significantly earlier than BW patients (χ2 = 21.01, P = 0.001, df = 5). Compared to the BW, a majority of SA perceived the disease to be severe (χ2 = 8.57, P < 0.05, df = 3). They also reported higher pain (χ2 = 26.12, P < 0.05, df = 3), reduced mobility (χ2 = 17.57, P < 0.004, df = 5) and reduced physical activity performed (χ2 = 17.94, P < 0.0005, df = 3). Reduced mobility and a decrease in physical activity may be associated with a higher ...

International Journal of Human Genetics, Oct 8, 2002

Three patients with different deletions of chromosome 13 were reexamined. The abnormal chromosome... more Three patients with different deletions of chromosome 13 were reexamined. The abnormal chromosomes were microdissected. The DNA from these chromosomes was DOP amplified, labelled with Biotin and used for reverse banding by FISH. The precise breakpoints in chromosome 13 were defined which is a prerequisite for delineation of the different deletion phenotypes.

The Anthropologist, Apr 1, 2000

Frontiers in Immunology, Sep 11, 2018

C-reactive protein (CRP) is an important mediator and a hallmark of the acute-phase response to i... more C-reactive protein (CRP) is an important mediator and a hallmark of the acute-phase response to inflammation. High-sensitivity assays that accurately measure levels of CRP have been recommended for use in risk assessment in ischemic stroke patients. Elevation of CRP during the acute-phase response in intracerebral hemorrhage (ICH) is also associated with the outcomes such as death and vascular complications. However, no association has been found with the increased risk of ICH. The aim of this review is to synthesize the published literature on the associations of CRP with acute ICH both as a risk biomarker and predictor of short-and long-term outcomes as well as its role as a pathogenic determinant. We believe before any clinical utility, a critical appraisal of the strengths and deficiencies of the accumulated evidence is required both to evaluate the current state of knowledge and to improve the design of future clinical studies.

Current Neurology and Neuroscience Reports, Feb 23, 2023

Purpose of Review Peripheral nervous system vasculitides (PNSV) are a heterogeneous group of diso... more Purpose of Review Peripheral nervous system vasculitides (PNSV) are a heterogeneous group of disorders with a clinical subset that may differ in prognosis and therapy. We provide a comprehensive update on the clinical assessment, diagnosis, complications, treatment, and follow-up of PNSV. Recent Findings Progress in neuroimaging, molecular testing, and peripheral nerve biopsy has improved clinical assessment and decision-making of PNSV, also providing novel insights on how to prevent misdiagnosis and increase diagnostic certainty. Advances in imaging techniques, allowing to clearly display the vessel walls, have also enhanced the possibility to differentiate inflammatory from non-inflammatory vascular lesions, while recent histopathology data have identified the main morphological criteria for more accurate diagnosis and differential diagnoses. Overall, the identification of peculiar morphological findings tends to improve diagnostic accuracy by defining a clearer boundary between systemic and nonsystemic neuropathies. Therefore, the definition of epineurium vessel wall damage, type of vascular lesion, characterization of lymphocyte populations, antibodies, and inflammatory factors, as well as the identification of direct nerve damage or degeneration, are the common goals for pathologists and clinicians, who will both benefit for data integration and findings translation. Nevertheless, to date, treatment is still largely empiric and, in some cases, unsatisfactory, thus often precluding precise prognostic prediction. In this context, new diagnostic techniques and multidisciplinary management will be essential in the proper diagnosis and prompt management of PNSV, as highlighted in the present review. Summary Thirty to fifty percent of all patients with vasculitis have signs of polyneuropathy. Neuropathies associated with systemic vasculitis are best managed according to the guidelines of the underlying disease because appropriate workup and initiation of treatment can reduce morbidity. Steroids, or in severe or progressive cases, cyclophosphamide pulse therapy is the standard therapy in non-systemic vasculitic neuropathies. Some patients need long-term immunosuppression. The use of novel technologies for high-throughput genotyping will permit to determine the genetic influence of related phenotypes in patients with PNSV.

International Journal of Human Genetics, Mar 1, 2008

Apolipoprotein C3 plays an important role in the receptor mediated hydrolysis of triglyceride ric... more Apolipoprotein C3 plays an important role in the receptor mediated hydrolysis of triglyceride rich lipoproteins (TRLs) by inhibition of lipoprotein lipase (LPL), delayed clearance of which causes hypertriglyceridemia (HTG). Indians are considered to be more vulnerable to the adverse effects of hypertriglyceridemia and consequently its probable sequel of cardiovascular disorders. Several studies have revealed the association of rare allele (S2) of APOC3 (SstI) polymorphism with dyslipidemias and coronary artery diseases. In order to investigate the role and relevance of this polymorphism in Northwest India, the present study aimed to investigate the genetic variation of 3' untranslated region of APOC3 (SstI) in 312 individuals belonging to four endogamous groups (Banias, Brahmins, Jatsikhs and Khatris) of Punjab. Uncommon *S2 allele frequency was 22.6%, 22.5%, 22.7% and 26.2% in Banias, Brahmins, Jatsikhs and Khatris respectively. Higher heterozygosity of 0.39 in Khatris reflected their greater variation at this locus than the other populations. Chi-square analysis did not reveal any significant differences between these populations and other studies from North India (P > 0.05). Comparative analysis of 66 other populations across the world revealed large heterogeneity at this locus whereby, Mongoloid populations have the highest frequencies of *S2 allele (0.19 to 0.48) followed by Indians (0.18 to 0.29), Africans (0.04 to 0.27) and Caucasian populations (0.01 to 0.12). Genetic distance and multivariate analyses showed that Indian population is quite distinct from other Caucasian and Oriental populations. Clinal heterogeneity of predisposing *S2 allele in Asia showed an increasing cline (y = 0.0043x + 0.1209, R 2 = 0.1162) towards North. As this allele is associated with HTG and other cardiovascular complications, differential variation in different populations may have insightful implications for association and medical genetic studies.

International Journal of Environmental Research and Public Health

Background: Globally, type 2 diabetes mellitus (T2DM) is one of the fastest-growing noncommunicab... more Background: Globally, type 2 diabetes mellitus (T2DM) is one of the fastest-growing noncommunicable multifactorial and polygenic diseases, which leads to many health complications and significant morbidity and mortality. South Asians have a high genetic predisposition to T2DM, with India being home to one in six diabetics. This study investigates the association of selected genetic polymorphisms with T2DM risk and develops a polygenic risk score (PRS). Methods: A case–control study recruited fully consented participants from a population of Jat Sikhs in north India. DNA samples were genotyped for a range of polymorphisms and odds ratios were calculated under several genetic association models. Receiver operating characteristic (ROC) curves were produced for combinations of the PRS and clinical parameters. Results: The GSTT1(rs17856199), GSTM1(rs366631), GSTP1(rs1695), KCNQ1(rs2237892), ACE(rs4646994), and TCF7L2(rs12255372; rs7903146; rs7901695) polymorphisms were associated with in...

International Journal of Health Sciences and Research, 2016

The role and relevance of DRD4 gene SNPs for the risk of depression in type 2 diabetes remains to... more The role and relevance of DRD4 gene SNPs for the risk of depression in type 2 diabetes remains to be clarified. To investigate its association, present cross sectional study was conducted on 399 type 2 diabetics who were diagnosed for depression using primary health care questionnaire-9 (PHQ-9) > 10 criteria. 191 subjects were depressed whereas, 208 subjects were found to be clinically non-depressed. Minor allele frequencies of two DRD4 SNPs rs1800955 and rs747302 were 0.45, 0.42 and 0.42, 0.34 in depressed and non depressed subjects respectively. C allele of rs747302 showed risk of depression (OR 1.41 95% CI 1.05- 1.87, P= 0.024) in comparison to G allele. It has been observed that carriers of CC genotype had approximately double the risk of depression (OR 1.96 95% CI 1.08- 3.56, P= 0.03) than GG carriers and this risk manifests in recessive mode.

The Anthropologist, 2000

Apolipoprotein A-IV genotypes were determined in five population groups (Brahmins, Banias, Jatsik... more Apolipoprotein A-IV genotypes were determined in five population groups (Brahmins, Banias, Jatsikhs, Khatris and ‘Others’) of Punjab (n-780) by two dimensional gel electrophoresis. The apo A-IV exhibits two common polymorphic alleles AIV-1 and AIV-2 with pooled frequencies 0.903 and 0.097 respectively. Distribution of apo A-IV isoforrms highlight considerable variation among different ethnic groups across the world. Average heterozygosity of Punjabi population was 0.1753 ± 0.011 at apo AIV structural locus. ‘Others’ showed the higher heterozygosity (19.55%)than other groups, reflecting greater proportion of incongruence at this locus. The gene diversity among five population groups was 0.3 percent (HS = 0.1753, HT = 0.1765). Estimated allele frequencies of these groups have been compared with the data found in other population groups. The frequency of apo A-IV2 in ‘Others’ was observed to be the highest except Finns and Icelanders.

Inflammation, oxidative stress, apoptosis and neovascularization are risky parameters which influ... more Inflammation, oxidative stress, apoptosis and neovascularization are risky parameters which influence different phases in the pathogenesis of age related macular degeneration (AMD). Beside other mediators, this multitiered and complex event of retinal worsening has been exposed to be orchestrated by small non coding RNA fragments that bind to specific mRNAs and modulate their post transcriptional regulation and gene expression in retina. Several microRNAs (miRNAs) have been revealed which are expressed in retina and influence its functionality. These miRNA fragments play significant role in the development and maintenance of photoreceptors hence, dysregulation of them may augment severe retinal etiopathology. This comprehensive review summarizes the role and relevance of several known miRNAs along with their potential utilities as therapeutic targets in AMD pathogenesis.

Background: Age related macular degeneration (AMD) is an ocular disease that is threatening elder... more Background: Age related macular degeneration (AMD) is an ocular disease that is threatening elderly population of Punjab for vision impairment and blindness. Comprehensive understanding of the susceptible factors still remains to be explored in this region. Objective: To examine the risk variables which are independently associated with the risk of AMD along with the investigation of its prevalence in the population of Punjab. Methods: A case-control study by design involved 416 subjects (cases; 219, controls; 197) of age ranging from 45 to 75 years. Various risk factors were investigated for their role in consenting and confirmed AMD subjects along with controls. Results: In the univariate full factorial regression analysis, advancing age (≥66years), being a woman, diastolic blood pressure (DBP) (>80mmHg), cigarette smoking, alcohol drinking, body mass index (BMI) (23-29.9Kgm-2 and ≥30Kgm-2 ), sedentary life style, total cholesterol (>200mg/dl), low density lipoproteins (>...

Journal of Clinical Medicine

Background: Delayed cerebral ischemia (DCI) is a common and serious complication of aneurysmal su... more Background: Delayed cerebral ischemia (DCI) is a common and serious complication of aneurysmal subarachnoid hemorrhage (aSAH). Though many clinical trials have looked at therapies for DCI and vasospasm in aSAH, along with reducing rebleeding risks, none have led to improving outcomes in this patient population. We present an up-to-date review of the pathophysiology of DCI and its association with early brain injury (EBI). Recent Findings: Recent studies have demonstrated that EBI, as opposed to delayed brain injury, is the main contributor to downstream pathophysiological mechanisms that play a role in the development of DCI. New predictive models, including advanced monitoring and neuroimaging techniques, can help detect EBI and improve the clinical management of aSAH patients. Summary: EBI, the severity of subarachnoid hemorrhage, and physiological/imaging markers can serve as indicators for potential early therapeutics in aSAH. The microcellular milieu and hemodynamic pathomechan...

Diabetes, 1982

Symptomatic neuropathy is a common manifestation of diabetes mellitus, and sensory, motor, or aut... more Symptomatic neuropathy is a common manifestation of diabetes mellitus, and sensory, motor, or autonomic symptoms occur in approximately 10% of all diabetic patients. Animal models may be useful to study the metabolic and electrophysioiogic abnormalities peculiar to diabetic neuropathy. Genetic animal models, including the Chinese hamster, ob/ob mouse, db/db mouse, BB-wistar rat, and SSDR rat or chemically induced or nutritional models of diabetes mellitus provide the potential to use animals to study human neuropathy; however, to date, few characteristics of human diabetic neuropathy have been clearly demonstrated in any of these animal models. Better characterization of the neuropathy of existing animal models with emphasis on evaluation over long periods of time is recommended. These studies should include a cross-disciplinary approach using biochemical, electrophysioiogic and morphologic techniques. Specific future approaches to study diabetic neuropathy using chemical models is ...

Vaccines

Atherosclerosis is the formation of plaque within arteries due to overt assemblage of fats, chole... more Atherosclerosis is the formation of plaque within arteries due to overt assemblage of fats, cholesterol and fibrous material causing a blockage of the free flow of blood leading to ischemia. It is harshly impinging on health statistics worldwide because of being principal cause of high morbidity and mortality for several diseases including rheumatological, heart and brain disorders. Atherosclerosis is perpetuated by pro-inflammatory and exacerbated by pro-coagulatory mediators. Besides several other pathways, the formation of neutrophil extracellular traps (NETs) and the activation of the NOD-like receptor family pyrin domain containing 3 (NLRP3) inflammasome contribute significantly to the initiation and propagation of atherosclerotic plaque for its worst outcomes. The present review highlights the contribution of these two disturbing processes in atherosclerosis, inflammation and atherothrombosis in their individual as well as collaborative manner.

International Journal of Immunogenetics

The present cross sectional study was carried out on 516 subjects with type 2 diabetes mellitus (... more The present cross sectional study was carried out on 516 subjects with type 2 diabetes mellitus (T2DM) and 234 control subjects from tertiary health care hospitals to identify the predictors of T2DM. In univariate testing diabetes mellitus was observed to be strongly associated with age group 46-55 years (P=0.04), sedentary life style (P=0.004), smoking (P=0.04), drinking alcohol (P=0.008), systolic blood pressure >120mmHg (P100mg/dl (P=0.001), triglycerides (TG) >150mg/dl (P

The Lancet. Neurology, Jan 14, 2018

Intracerebral haemorrhage growth is associated with poor clinical outcome and is a therapeutic ta... more Intracerebral haemorrhage growth is associated with poor clinical outcome and is a therapeutic target for improving outcome. We aimed to determine the absolute risk and predictors of intracerebral haemorrhage growth, develop and validate prediction models, and evaluate the added value of CT angiography. In a systematic review of OVID MEDLINE-with additional hand-searching of relevant studies' bibliographies- from Jan 1, 1970, to Dec 31, 2015, we identified observational cohorts and randomised trials with repeat scanning protocols that included at least ten patients with acute intracerebral haemorrhage. We sought individual patient-level data from corresponding authors for patients aged 18 years or older with data available from brain imaging initially done 0·5-24 h and repeated fewer than 6 days after symptom onset, who had baseline intracerebral haemorrhage volume of less than 150 mL, and did not undergo acute treatment that might reduce intracerebral haemorrhage volume. We est...