Biomedical subjects

N Patil

Publications and source records attributed to N Patil.

At least 19 recordsLinked to original sources

PubMed2006

Correct anatomical location of entry point for antegrade femoral nailing.

Closed intramedullary nailing is a well-accepted method of treatment for femoral shaft fractures. The issue of the correct entry point for antegrade nailing remains a matter of controversy, and the literature is confusing. We reviewed the opinions of 100 orthopaedic surgeons by means of questionnaires. Only four surgeons were able to identify and label their respective entry points for femoral nailing correctly, possibly because of incorrect illustration in publications or errors in terminology. Although the piriformis fossa appears to be the ideal entry point, the importance of exact localisation in the sagittal plane, centered over the axis of medullary canal, cannot be overlooked.

Bone Nails↗

PubMed2005

Transcutaneous absorption of oil in preterm babies--a pilot study.

This study was conducted to determine transcutaneous absorption of oil in preterm neonates. A mixture of coconut oil and Meadowfoam oil which contains unique fatty acids, which acted as marker fatty acids was applied to the skin of babies. One mL blood was collected before and one hour after post oil application. Both pre and post oil application serum samples were hydrolysed and derivatised with 2-phenyl hydrazine hydrochloride in order to detect fatty acids by HPLC analysis on C-8 column. None of the pre oil application serum sample showed the presence of the marker fatty acids. The post oil application serum sample of all the 12 babies showed the presence of marker fatty acids of Meadowfoam oil which indicates transcutaneous absorption of oil in preterm babies.

Administration, Topical↗

PubMed2002

Retrospective review and long-term follow-up of radical cystectomy in a developing country.

OBJECTIVE: To retrospectively review the clinical data from patients undergoing radical cystectomy for bladder cancer, and to analyse the complications and survival rates associated with this operation in a developing country. PATIENTS AND METHODS: The study comprised 105 patients who underwent radical cystectomy from 1986 to 1993. Data were collected from retrospective reviews of hospital and physician's office records, and by contact with the patients. Metastatic status was evaluated before surgery and tumours staged using the Tumour-Nodes-Metastasis classification. The indication for surgery was histologically confirmed muscle invasion after transurethral resection biopsy, or endoscopically uncontrollable superficial disease. The data were analysed to assess the perioperative complications and long-term survival, with 5-year survival rates determined using Kaplan-Meier survival curves. RESULTS: The complication rate was 27.6%; most of the complications were managed conservatively with good results and re-operation was required in only two patients. There were two deaths (1.9%) at 15-45 days after surgery, but none during surgery. Patients were divided into node-negative and node-positive groups for analysis and 5-year survival rates determined; for node-negative organ-confined disease (< or =pT3A) the survival was 68% and for nonorgan-confined disease (> or =pT3B) 25%. The 5-year survival rate in the presence of nodal metastases was 13% for N1 and none for N2 disease. Six patients developed urethral recurrence, detected on follow-up urethral-wash cytology. Five of these patients underwent urethrectomy, and four of the six survived for 5 years. Pelvic recurrence occurred in five patients (4.7%), none of whom survived for 5 years. CONCLUSION: Radical cystectomy and pelvic lymph node dissection remains the mainstay of treatment in muscle-invasive bladder cancer. This is a relatively safe procedure with minimal morbidity and mortality; 68% of the present patients with organ-confined disease survived 5 years and 12 patients were alive at 10 years, indicating the effectiveness of this operation in selected cases. However, < 29% of patients with nonorgan-confined and nodal metastatic disease survived 5 years, thereby implying the need for more effective adjuvant therapy in these patients. Radical cystectomy is a viable option in developing countries, with 5-year survival rates comparable with most large published series.

Adult↗

PubMed2002

Renal artery involvement in patients of coronary artery disease undergoing coronary angiography--a prospective study.

METHODS: We prospectively studied the angiographic incidence of renal artery stenosis in 1000 consecutive patients who underwent coronary angiography for clinically suspected coronary artery disease since December, 1998. Selective renal arteriography was performed in all the patients (mean age 57 years, 74.6% males) after coronary angiography. RESULTS: Systemic arterial hypertension was present in 52%, 29.1% were smokers, 21% had diabetes and 31.2% had hypercholesterolemia. Significant coronary artery diseases was found in 849 (84.9%) patients. Of the total patient cohort, 103 (10.3%) patients had renal artery disease; 78 (7.8%) had insignificant stenosis (> 50%) and significant renal artery stenosis (< 50%) was identified in 25 (2.5%) patients. Three had bilateral renal artery stenosis. Comparisons were made between renal artery stenosis and risk factor profile. There was no statistically significant association between renal artery stenosis and parameters like diabetes mellitus, hypertension, smoking, lipid levels and serum creatinine. CONCLUSION: In our study, the absolute number of cases with significant renal artery stenosis is small, so no statistical analysis could be performed to demonstrate the relationship of presence of renal artery stenosis with severity of CAD. However patients with severe coronary artery disease or having multiple risk factor showed a trend towards increased prevalence of renal artery stenosis, hence renal angiography should be done for this subset of patients.

Coronary Angiography↗

PubMed2002

Therapeutic potential of yoga practices in modifying cardiovascular risk profile in middle aged men and women.

AIMS OF STUDY: To study effect of yoga on the physiological, psychological well being, psychomotor parameter and modifying cardiovascular risk factors in mild to moderate hypertensive patients. METHODS: Twenty patients (16 males, 4 females) in the age group of 35 to 55 years with mild to moderate essential hypertension underwent yogic practices daily for one hour for three months. Biochemical, physiological and psychological parameters were studied prior and following period of three months of yoga practices, biochemical parameters included, blood glucose, lipid profile, catecholmines, MDA, Vit. C cholinesterase and urinary VMA. Psychological evaluation was done by using personal orientation inventory and subjective well being. RESULTS: Results showed decrease in blood pressure and drug score modifying risk factors, i.e. blood glucose, cholesterol and triglycerides decreased overall improvement in subjective well being and quality of life. There was decrease in VMA catecholamine, and decrease MDA level suggestive decrease sympathetic activity and oxidant stress. CONCLUSION: Yoga can play an important role in risk modification for cardiovascular diseases in mild to moderate hypertension.

Adaptation, Physiological↗

PubMed2001

Blocks of limited haplotype diversity revealed by high-resolution scanning of human chromosome 21.

Global patterns of human DNA sequence variation (haplotypes) defined by common single nucleotide polymorphisms (SNPs) have important implications for identifying disease associations and human traits. We have used high-density oligonucleotide arrays, in combination with somatic cell genetics, to identify a large fraction of all common human chromosome 21 SNPs and to directly observe the haplotype structure defined by these SNPs. This structure reveals blocks of limited haplotype diversity in which more than 80% of a global human sample can typically be characterized by only three common haplotypes.

Algorithms↗

PubMed2001

Intracranial complications of acute frontal sinusitis.

Despite advances in the diagnosis and treatment of acute frontal sinusitis, there is still significant occurrence of intracranial complications. Urgent surgical evacuation of any intracranial collection is required; however, the surgical management of the associated sinusitis remains controversial. Ten patients presented to this department over a 12-month period with subdural empyema secondary to acute frontal sinusitis. Four patients had a coexisting Pott's puffy tumour and one patient had a periorbital abscess. Each patient was managed using a multidisciplinary approach. A frontal sinus trephine/drain +/- antral washout was performed at the same time as craniotomy with evacuation of the empyema. With this approach only two patients suffered long-term morbidity in our series, in the form of persistent neurological or cognitive deficit. No patient required a definitive sinus procedure. This study emphasizes the need for the early assessment and intervention of patients with an intracranial complication secondary to acute frontal sinusitis. Further assessment of the underlying sinus disease is indicated during outpatient follow up after the acute episode.

Acute Disease↗

PubMed2001

Sequence diversity in genes of lipid metabolism.

Elevated plasma lipoprotein levels play a crucial role in the development of coronary artery disease. Genetic factors strongly influence the levels of plasma lipoproteins, but the genes and sequence variations contributing to the most common forms of dyslipidemias are not known. We used GeneChip probe arrays to resequence the coding regions of 10 key genes of lipid metabolism. The sequences of these genes were analyzed in 80 dyslipidemic individuals. Fourteen nonsynonymous and twenty-two synonymous single nucleotide changes were identified that could be confirmed by conventional sequencing. Seven of the fourteen nonsynonymous sequence variants were polymorphisms with allele frequency >1% in the general population. The remaining seven were not found in normolipidemic controls (25 Caucasians and 25 African-Americans). The relationship between nonsynonymous sequence variations and various dyslipidemias was explored in association and family studies. No evidence was found for coding sequence variations in any of the 10 genes contributing to dyslipidemia. Only a single sequence variation, a missense mutation in the low density lipoprotein receptor gene, co-segregated with hyperlipidemia in the proband's family. This study illustrates some of the difficulties associated with identifying sequence variations contributing to complex traits.

Adult↗

PubMed2001

Evolutionarily conserved sequences on human chromosome 21.

Comparison of human sequences with the DNA of other mammals is an excellent means of identifying functional elements in the human genome. Here we describe the utility of high-density oligonucleotide arrays as a rapid approach for comparing human sequences with the DNA of multiple species whose sequences are not presently available. High-density arrays representing approximately 22.5 Mb of nonrepetitive human chromosome 21 sequence were synthesized and then hybridized with mouse and dog DNA to identify sequences conserved between humans and mice (human-mouse elements) and between humans and dogs (human-dog elements). Our data show that sequence comparison of multiple species provides a powerful empiric method for identifying actively conserved elements in the human genome. A large fraction of these evolutionarily conserved elements are present in regions on chromosome 21 that do not encode known genes.

Animals↗

PubMed2001

Laryngocele and squamous cell carcinoma of the larynx.

We present a case report of a lady with a laryngocele and a squamous cell carcinoma of the larynx. The pathogenesis of the relationship between these two entities is discussed and the literature reviewed. This association means a carcinoma must be outruled if a laryngocele is detected clinically or radiologically.

Aged↗

PubMed2000

Large-scale discovery and genotyping of single-nucleotide polymorphisms in the mouse.

Single-nucleotide polymorphisms (SNPs) have been the focus of much attention in human genetics because they are extremely abundant and well-suited for automated large-scale genotyping. Human SNPs, however, are less informative than other types of genetic markers (such as simple-sequence length polymorphisms or microsatellites) and thus more loci are required for mapping traits. SNPs offer similar advantages for experimental genetic organisms such as the mouse, but they entail no loss of informativeness because bi-allelic markers are fully informative in analysing crosses between inbred strains. Here we report a large-scale analysis of SNPs in the mouse genome. We characterized the rate of nucleotide polymorphism in eight mouse strains and identified a collection of 2,848 SNPs located in 1,755 sequence-tagged sites (STSs) using high-density oligonucleotide arrays. Three-quarters of these SNPs have been mapped on the mouse genome, providing a first-generation SNP map of the mouse. We have also developed a multiplex genotyping procedure by which a genome scan can be performed with only six genotyping reactions per animal.

Animals↗

PubMed2000

Genome-wide detection of allelic imbalance using human SNPs and high-density DNA arrays.

Most human cancers are characterized by genomic instability, the accumulation of multiple genetic alterations and allelic imbalance throughout the genome. Loss of heterozygosity (LOH) is a common form of allelic imbalance and the detection of LOH has been used to identify genomic regions that harbor tumor suppressor genes and to characterize tumor stages and progression. Here we describe the use of high-density oligonucleotide arrays for genome-wide scans for LOH and allelic imbalance in human tumors. The arrays contain redundant sets of probes for 600 genetic loci that are distributed across all human chromosomes. The arrays were used to detect allelic imbalance in two types of human tumors, and a subset of the results was confirmed using conventional gel-based methods. We also tested the ability to study heterogeneous cell populations and found that allelic imbalance can be detected in the presence of a substantial background of normal cells. The detection of LOH and other chromosomal changes using large numbers of single nucleotide polymorphism (SNP) markers should enable identification of patterns of allelic imbalance with potential prognostic and diagnostic utility.

Adenocarcinoma↗

PubMed2000

Effect of yogic practices on subjective well being.

Forty eight healthy volunteers who participated in the practice of yoga over a period of 4 months were assessed on Subjective Well Being Inventory (SUBI) before and after the course in order to evaluate the effect of practice of yoga on subjective feelings of well-being and quality of life. A significant improvement in 9 of the 11 factors of SUBI was observed at the end of 4 months, in these participants. The paper thus, reiterates the beneficial effects of regular practice of yoga on subjective well being.

Adult↗

PubMed1999

Congenital vascular anomalies and persistent respiratory symptoms in children.

Congenital cardiovascular anomalies are a rare but treatable cause of stridor in the paediatric population. Despite this, we and the authors of other series have found a delay in referral for endoscopic diagnosis. The duration of symptoms prior to endoscopic diagnosis ranged from 6 weeks to 10 years. It has been estimated that up to 3% of the population have congenital anomalies of the aortic arch complex and we feel that many patients currently being diagnosed as having recurrent croup or atypical asthma must be excluded from this group. We had 16 cases of congenital vascular anomalies causing tracheobronchial compression. Fifteen were due to innominate artery compression and one was due to a double aortic arch. Presenting symptoms included stridor (100%), persistent cough (75%), chronic dyspnoea (75%), reflex apnoea (60%), recurring respiratory tract infections (56%) and dysphagia (25%). Direct laryngoscopy and bronchoscopy was diagnostic in all cases and is our investigation of choice. Eleven underwent aortopexy (69%), one had division of the non-dominant aortic arch (6%) and four were managed conservatively (25%). They were followed for up to 9 years post-operatively and 75% had complete resolution of their symptoms. We feel that only a high clinical index of suspicion will enable these potentially fatal anomalies to be diagnosed.

Aorta, Thoracic↗

PubMed1999

Characterization of single-nucleotide polymorphisms in coding regions of human genes.

A major goal in human genetics is to understand the role of common genetic variants in susceptibility to common diseases. This will require characterizing the nature of gene variation in human populations, assembling an extensive catalogue of single-nucleotide polymorphisms (SNPs) in candidate genes and performing association studies for particular diseases. At present, our knowledge of human gene variation remains rudimentary. Here we describe a systematic survey of SNPs in the coding regions of human genes. We identified SNPs in 106 genes relevant to cardiovascular disease, endocrinology and neuropsychiatry by screening an average of 114 independent alleles using 2 independent screening methods. To ensure high accuracy, all reported SNPs were confirmed by DNA sequencing. We identified 560 SNPs, including 392 coding-region SNPs (cSNPs) divided roughly equally between those causing synonymous and non-synonymous changes. We observed different rates of polymorphism among classes of sites within genes (non-coding, degenerate and non-degenerate) as well as between genes. The cSNPs most likely to influence disease, those that alter the amino acid sequence of the encoded protein, are found at a lower rate and with lower allele frequencies than silent substitutions. This likely reflects selection acting against deleterious alleles during human evolution. The lower allele frequency of missense cSNPs has implications for the compilation of a comprehensive catalogue, as well as for the subsequent application to disease association.

Alleles↗

PubMed1996

Functional effects of the mouse weaver mutation on G protein-gated inwardly rectifying K+ channels.

The weaver mutation corresponds to a substitution of glycine to serine in the H5 region of a G protein-gated inwardly rectifying K+ channel gene (GIRK2). By studying mutant GIRK2 weaver homomultimeric channels and heteromultimeric channels comprised of GIRK2 weaver and GIRK1 in Xenopus oocytes, we found that GIRK2 weaver homomultimeric channels lose their selectivity for K+ ions, giving rise to inappropriate receptor-activated and basally active Na+ currents, whereas heteromultimers of GIRK2 weaver and GIRK1 appeared to have reduced current. Immunohistochemical localization indicates that GIRK2 and GIRK1 proteins are expressed in the cerebellar neurons of mice at postnatal day 4, at a time when these neurons normally undergo differentiation. Thus, the aberrant behavior of mutant GIRK2 weaver channels could affect the development of weaver mice in at least two distinct ways.

Aging↗

PubMed1995

A potassium channel mutation in weaver mice implicates membrane excitability in granule cell differentiation.

Early events in neuronal differentiation are generally considered to be regulated by factors independent of alterations in membrane permeability. Weaver mice harbour a mutation that blocks neuronal differentiation just after cessation of cell division, prior to cell migration and synaptogenesis. Cerebellar granule cells in homozygous weaver mice fail to differentiate, either because intrinsic cues are absent or because the granule cells are unable to respond to those cues. We now report that weaver mice have a missense mutation in a gene encoding a G-protein coupled inward rectifier potassium channel. The mutation alters the putative ion-permeable, pore-forming domain of the protein, suggesting that granule cell differentiation is regulated by changes in membrane permeability.

Amino Acid Sequence↗

PubMed1995

Modified neoglottis reconstruction following total laryngectomy: long-term follow-up and results.

In 1978 a surgical procedure was developed to create a neoglottis from the upper tracheal rings to facilitate speech rehabilitation in patients who had undergone total laryngectomy for carcinoma of the larynx. To date, 45 such procedures have been performed and results indicate rapid postoperative speech rehabilitation in nearly all patients, good long-term speech results, and low morbidity. This procedure has served as a very successful alternative to the more frequently used tracheoesophageal puncture (TEP) and prosthetic valve technique.

Adult↗