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Journal ArticleDOI

The genetics of post-polio syndrome - much to be unravelled!

Radha Saraswathy1
01 Jul 2016-Indian Journal of Medical Research (Indian J Med Res)-Vol. 144, Iss: 1, pp 9-10
About: This article is published in Indian Journal of Medical Research.The article was published on 2016-07-01 and is currently open access. It has received 7 citations till now.
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Journal ArticleDOI
TL;DR: Postpolio syndrome (PPS) refers to a group of conditions that are present in patients, years after recovery from initial acute paralytic poliomyelitis, and Hypothyroidism-induced myopathy and fibromyalgia are a differential diagnosis for PPS.
Abstract: Postpolio syndrome (PPS) refers to a group of conditions that are present in patients, years after recovery from initial acute paralytic poliomyelitis About 15%-80% of 20 million polio survivors worldwide will experience exacerbation of symptoms which typically appear 15-30 years after the resolution of initial poliomyelitis Symptoms include new muscle weakness, fatigue, myalgia, joint pain, dysphagia, and difficulty breathing Other reported symptoms include cold intolerance, sleep disorder, dysphonia, loss of stamina, musculoskeletal deformities, cardiovascular disorders, psychosocial problems, and restless legs syndrome These symptoms are attributed to the superimposed neuronal loss of aging with inflammatory mechanisms, but without any convincing evidence of viral reactivation Risk factors include female gender, respiratory symptoms, normal aging, permanent disability caused by motor neuron damage, muscle overuse and disuse, aging, and immunologic mechanisms Hypothyroidism-induced myopathy and fibromyalgia are a differential diagnosis for PPS, and exclusion diagnosis is required as confirmatory criteria for PPS The symptoms of PPS presented determine the course of management

10 citations


Cites background from "The genetics of post-polio syndrome..."

  • ...However, it is not yet confirmed to be present in patients with PPS.[18] Thus, further research is recommended to be performed to prove the presence of PVR polymorphism as well as to identify any form of gene mutation that can lead to the development of PPS....

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Journal ArticleDOI
TL;DR: Aportamos una propuesta para analizar la agresividad de un patogeno en relacion a the resistencia y sensibilidad antimicrobianas encontradas.
Abstract: Background: The opportunistic pathogen Klebsiella pneumoniae is one of the main causes of pediatric bacterial blood stream infections (BSI), which is complicated with sepsis and high mortality. Objectives: To identify atypical Klebsiella species affecting a sample of infected neonates with low antimicrobial response. Methods: Multidrug resistant blood cultures for Klebsiella from a Neonatal Service, were submitted to molecular identification by sequencing analysis of 16S ribosomal RNA. Results: The mean age of the newborns was 14.7 ± 5.6 days. A total of 6 out of 8 cases were sepsis, 1 case of pneumonia, and 1 a catheter-related infection. The molecular identification showed 3 cases of K. pneumoniae subsp. ozaenae, 2 of K. pneumoniae and K. variicola, and 1 case of K. oxytoca. The highest antimicrobial resistance was against cephalosporins and Trimethoprim/sulfamethoxazole. Conclusions: Klebsiella pneumoniae subsp. ozaenae was responsible for multidrug resistant strains of Klebsiella even in 37.5% of cases. In our clinical setting, the use of Amikacin and carbapenems are still useful to treat neonatal infections by Klebsiella even against K. variicola, which is the most resistant.

3 citations

Journal Article
TL;DR: The frequency of chromosome aberrations in PPS showed a significant increase as compared with the controls, and the delayed effects of polio virus on human chromosomes in post polio syndrome were investigated.
Abstract: A number of viruses have been shown to be capable of producing abnormalities of the metaphase chromosomes in circulating lymphocytes during some natural infections in man, i.e., measles virus, chicken pox and mumps viruses and hepatitis virus. However this cataloguing of viruses with a demonstrated capacity for direct or indirect production of effects on metaphase chromosomes is most certainly incomplete. Thus even the immediate effects of a high number of viral genomes, important one being poliovirus on chromosome is still wanting. Further follow up studies on the delayed late effects of viral genome on the human leukocyte chromosomes was much less in literature. Hence to fulfil the lacunae a study is undertaken to investigate mainly the delayed effects of polio virus on human chromosomes in post polio syndrome. The control group consisted of 30 healthy subjects for chromosomal aberration analysis. All the control subjects were matched for age and with no history of Polio. The study group consisted of 30 Polio patients for analysis of cytogenetic aberration. The details of sex, age at onset, severity of disease, exposure to chemicals, smoking and consanguinity is presented for the 30 PPS individuals. In this study the frequency of chromosome aberrations in PPS showed a significant increase as compared with the controls.

1 citations

Journal ArticleDOI
TL;DR: In this paper, the authors present two patients with Chagas disease that developed cardiac arrest and were treated at the emergency department of a reference hospital in Brazil (Sao Paulo city).
Abstract: People with Chagas disease are at a higher risk of death due to cardiac arrest (CA). Considering that Chagas disease remains a serious health problem in Latin America, studies in this regard are still needed. The aim of this study was to present 2 patients with Chagas that developed CA and were treated at the emergency department of a reference hospital in Brazil (Sao Paulo city). Case one: Male (73 years old and Caucasian) with a history of systemic arterial hypertension, diabetes mellitus, liver cirrhosis, and Chagas disease associated with megacolon and megaesophagus. After cardiac collapse and 30 minutes of cardiopulmonary resuscitation (CPR), unfortunately the patient died. Case two: A female patient (64 years old and Caucasian), with a history of systemic arterial hypertension, obesity, and Chagas disease. After 23 days of hospitalization, pharmacological therapy, and implantation of a cardioverter defibrillator, the patient was discharged. People with Chagas disease are at a higher risk of CA. The researchers believe that a prompt and efficient treatment (advanced life support) allied with educational programs on CA recognition targeted at health professionals and caregivers (basic life support knowledge) could improve the prognoses of these patients.
Journal ArticleDOI
TL;DR: Post-polio syndrome (PPS) is a rare neurological disorder that affects 20-40% of paralytic and non-paralytic polio survivors as mentioned in this paper , and it usually affects performance in daily activities with a negative effect on patients' quality of life.
Abstract: Post-polio syndrome (PPS) is a rare neurological disorder that affects 20-40% of paralytic and non-paralytic polio survivors. It is estimated that about 15 million people worldwide are survivors of the polio infection that occurred during the 1940s and 1950s, until the vaccine was first introduced. Its main characteristic is the appearance of de novo muscle weakness or its increase and atrophy, accompanied by other symptoms such as fatigue, joint, bone or muscle pain, intolerance to cold, and bulbar symptoms (involvement of swallowing, speech and breathing). PPS usually affects performance in daily activities with a negative effect on patients’ quality of life. We present two cases with a diagnosis of PPS, with a current review of the lit-erature.
References
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Journal ArticleDOI
15 May 1998-Science
TL;DR: A large-scale survey for SNPs was examined by a combination of gel-based sequencing and high-density variation-detection DNA chips, and a genetic map was constructed showing the location of 2227 candidate SNPs.
Abstract: Single-nucleotide polymorphisms (SNPs) are the most frequent type of variation in the human genome, and they provide powerful tools for a variety of medical genetic studies. In a large-scale survey for SNPs, 2.3 megabases of human genomic DNA was examined by a combination of gel-based sequencing and high-density variation-detection DNA chips. A total of 3241 candidate SNPs were identified. A genetic map was constructed showing the location of 2227 of these SNPs. Prototype genotyping chips were developed that allow simultaneous genotyping of 500 SNPs. The results provide a characterization of human diversity at the nucleotide level and demonstrate the feasibility of large-scale identification of human SNPs.

2,383 citations

Journal ArticleDOI
10 Mar 1989-Cell
TL;DR: Northern hybridization analysis indicates that poliov virus receptor transcripts are expressed in a wide range of human tissues, in contrast to the limited expression of virus binding sites, which suggests that additional factors or modifications of the receptor protein are required to permit poliovirus attachment.

1,056 citations

Journal ArticleDOI
TL;DR: Insight is provided into the genetic architecture of infectious disease susceptibility and immune molecules and pathways that are directly relevant to the human host defence are identified.
Abstract: Recent genome-wide studies have reported novel associations between common polymorphisms and susceptibility to many major infectious diseases in humans In parallel, an increasing number of rare mutations underlying susceptibility to specific phenotypes of infectious disease have been described Together, these developments have highlighted a key role for host genetic variation in determining the susceptibility to infectious disease They have also provided insights into the genetic architecture of infectious disease susceptibility and identified immune molecules and pathways that are directly relevant to the human host defence

429 citations

Journal ArticleDOI
TL;DR: Predicted amino acid sequences indicate that PVR alpha and PVR delta, corresponding to the previously described cDNA clones H20A and H20B, respectively, are integral membrane proteins while the other two molecules described here for the first time lack a putative transmembrane domain.
Abstract: Both genomic and complementary DNA clones encoding poliovirus receptors were isolated from genomic and complementary DNA libraries prepared from HeLa S3 cells, respectively. Nucleotide sequence analysis of these cloned DNAs revealed that the poliovirus receptor gene is approximately 20 kb long and contains seven introns in the coding region, and that at least four mRNA isoforms referring to the coding sequence are generated by alternative splicing and appear to encode four different molecules, that is, PVR alpha, PVR beta, PVR gamma and PVR delta. The predicted amino acid sequences indicate that PVR alpha and PVR delta, corresponding to the previously described cDNA clones H20A and H20B, respectively, are integral membrane proteins while the other two molecules described here for the first time lack a putative transmembrane domain. Mouse cell transformants carrying PVR alpha were permissive for poliovirus infection, but those carrying PVR beta were hardly permissive. In contrast to PVR alpha, PVR beta was not detected on the surface of the mouse cell transformants but was detected in the culture fluid by an immunological method using a monoclonal antibody against poliovirus receptor. Three types of splicing products for PVR alpha, PVR beta and PVR gamma were detected by polymerase chain reactions using appropriate primers in poly(A)+ RNAs of the brain, leukocyte, liver, lung and placenta of humans; the choice of primers used did not permit detection of PVR delta. In situ hybridization using a cDNA fragment as a probe demonstrated that the PVR gene is located at the band q13.1----13.2 of human chromosome 19.

302 citations

Journal ArticleDOI
TL;DR: The SNP detection technologies have evolved from labor intensive, time consuming, and expensive processes to some of the most highly automated, efficient, and relatively inexpensive methods as discussed by the authors, and robust strategies are found in both SNP discovery and genotyping areas.
Abstract: Single nucleotide polymorphism (SNP) detection technologies are used to scan for new polymorphisms and to determine the allele(s) of a known polymorphism in target sequences. SNP detection technologies have evolved from labor intensive, time consuming, and expensive processes to some of the most highly automated, efficient, and relatively inexpensive methods. Driven by the Human Genome Project, these technologies are now maturing and robust strategies are found in both SNP discovery and genotyping areas. The nearly completed human genome sequence provides the reference against which all other sequencing data can be compared. Global SNP discovery is therefore only limited by the amount of funding available for the activity. Local, target, SNP discovery relies mostly on direct DNA sequencing or on denaturing high performance liquid chromatography (dHPLC). The number of SNP genotyping methods has exploded in recent years and many robust methods are currently available. The demand for SNP genotyping is great, however, and no one method is able to meet the needs of all studies using SNPs. Despite the considerable gains over the last decade, new approaches must be developed to lower the cost and increase the speed of SNP detection.

238 citations