Prevalence rates of mucopolysaccharidoses in Poland.
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ABSTRACT:
SUBMITTER: Jurecka A
PROVIDER: S-EPMC4412687 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Previous studies on the prevalence of mucopolysaccharidoses (MPS) in different populations have shown considerable variations. There are, however, few data with regard to the prevalence of MPSs in Fenno-Ugric populations or in north-eastern Europe, except for a report about Scandinavian countries. A retrospective epidemiological study of MPSs in Estonia was undertaken, and live-birth prevalence of MPS patients born between 1985 and 2006 was estimated. The live-birth prevalence for all MPS subtypes was found to be 4.05 per 100,000 live births, which is consistent with most other European studies. MPS II had the highest calculated incidence, with 2.16 per 100,000 live births (4.2 per 100,000 male live births), forming 53% of all diagnosed MPS cases, and was twice as high as in other studied European populations. The second most common subtype was MPS IIIA, with a live-birth prevalence of 1.62 in 100,000 live births. With 0.27 out of 100,000 live births, MPS VI had the third-highest live-birth prevalence. No cases of MPS I were diagnosed in Estonia, making the prevalence of MPS I in Estonia much lower than in other European populations. MPSs are the third most frequent inborn error of metabolism in Estonia after phenylketonuria and galactosemia.
| S-EPMC3422553 | biostudies-literature
Project description:BackgroundIn this study, the prevalence of different types of mucopolysaccharidoses (MPS) was estimated based on data from the exome aggregation consortium (ExAC) and the genome aggregation database (gnomAD). The population-based allele frequencies were used to identify potential disease-causing variants on each gene related to MPS I to IX (except MPS II).MethodsWe evaluated the canonical transcripts and excluded homozygous, intronic, 3', and 5' UTR variants. Frameshift and in-frame insertions and deletions were evaluated using the SIFT Indel tool. Splice variants were evaluated using SpliceAI and Human Splice Finder 3.0 (HSF). Loss-of-function single nucleotide variants in coding regions were classified as potentially pathogenic, while synonymous variants outside the exon-intron boundaries were deemed non-pathogenic. Missense variants were evaluated by five in silico prediction tools, and only those predicted to be damaging by at least three different algorithms were considered disease-causing.ResultsThe combined frequencies of selected variants (ranged from 127 in GNS to 259 in IDUA) were used to calculate prevalence based on Hardy-Weinberg's equilibrium. The maximum estimated prevalence ranged from 0.46 per 100,000 for MPSIIID to 7.1 per 100,000 for MPS I. Overall, the estimated prevalence of all types of MPS was higher than what has been published in the literature. This difference may be due to misdiagnoses and/or underdiagnoses, especially of the attenuated forms of MPS. However, overestimation of the number of disease-causing variants by in silico predictors cannot be ruled out. Even so, the disease prevalences are similar to those reported in diagnosis-based prevalence studies.ConclusionWe report on an approach to estimate the prevalence of different types of MPS based on publicly available population-based genomic data, which may help health systems to be better prepared to deal with these conditions and provide support to initiatives on diagnosis and management of MPS.
| S-EPMC7672855 | biostudies-literature
Project description:Natural reservoirs of Yersinia (Y.) enterocolitica comprise different animal species, but little is known about the role of wild animals in the epidemiology of yersiniosis. The aim of the study was to evaluate the prevalence of Y. enterocolitica among game animals in Poland. The bio-serotypes and the pathogenicity markers of the analyzed isolates were determined. The experimental material comprised rectal swabs from 857 free-living animals hunter-harvested over a period of 2 years (2013-2014) in hunting districts across Poland. The isolates from bacteriological studies were confirmed by PCR and bio-serotyped based on the results of biochemical and agglutination tests. In the group of the 218 analyzed isolates of Y. enterocolitica, 133 were derived from wild boars, 70 from red deer, 11 from roe deer and 4 from fallow deer, and they accounted for 61.0%, 32.1%, 5.1% and 1.8% of all isolates, respectively. Bio-serotyping assays revealed that 91.7% of the examined isolates belonged to biotype 1A (200/218). The remaining 18 isolates belonged to bio-serotypes 1B/NI (3/218, 1.4%), 1B/O:8 (1/218, 0.5%), 2/NI (6/218, 2.8%), 2/O:27 (1/218, 0.5%), 2/O:3 (1/218, 0.5%), 2/O:9 (2/218, 0.9%), 3/NI (2/218, 0.9%), 4/O:3 (1/218, 0.5%) and 4/O:9 (1/218, 0.5%). The ail gene, a suggestive virulence gene for Y. enterocolitica, has been found in 30 isolates from 20 wild boars, in 6 isolates from red deer, and in 1 isolate from roe deer. Our study demonstrated that Y. enterocolitica is frequently isolated from game animals in Poland, which poses a risk of spreading these infectious agents to other animal species and humans.
| S-EPMC5875811 | biostudies-literature
Project description:BackgroundThe purpose of this study was to determine the prevalence, symptoms of, and risk factors for spinal pain in physiotherapists, as well as to analyse the correlation between these factors and the nature of the work, anthropometric features of the respondents, and the level of their physical activity.MethodsThe study was conducted among 240 physiotherapists (71 male and 169 female) with a mean age of 38.7 years. They were divided into three groups: physical therapy (37), kinesitherapy (158) and massage (45). Physiotherapists were evaluated with a specially designed questionnaire, the postural discomfort chart, the Neck Disability Index (NDI) questionnaire, and the Oswestry Disability Index (ODI) questionnaire.ResultsThe analysis showed a 91.7% incidence of spinal pain in physiotherapists (91.1% for kinesitherapy, 97.3% for physical therapy, and 88.9% for massage). The study revealed that 50.2% of physiotherapists indicated one to five pain episodes in their careers. Most respondents reported pain in the lumbosacral spine (82%) and the cervical spine (67%). Most respondents (58.5%) scored the pain as moderate (VAS scale). Carrying (62.6%) and torso bending (37.4%) were indicated as the causes of pain.ConclusionsPhysiotherapists demonstrate a high prevalence of spinal pain. Physical activity reduces the frequency of pain episodes.
| S-EPMC8269737 | biostudies-literature
Project description:The mucopolysaccharidoses (MPSs) include 11 different conditions caused by specific enzyme deficiencies in the degradation pathway of glycosaminoglycans (GAGs). Although most MPS types present increased levels of GAGs in tissues, including blood and urine, diagnosis is challenging as specific enzyme assays are needed for the correct diagnosis. Enzyme assays are usually performed in blood, with some samples (as leukocytes) providing a final diagnosis, while others (such as dried blood spots) still being considered as screening methods. The identification of variants in the specific genes that encode each MPS-related enzyme is helpful for diagnosis confirmation (when needed), carrier detection, genetic counseling, prenatal diagnosis (preferably in combination with enzyme assays) and phenotype prediction. Although the usual diagnostic flow in high-risk patients starts with the measurement of urinary GAGs, it continues with specific enzyme assays and is completed with mutation identification; there is a growing trend to have genotype-based investigations performed at the beginning of the investigation. In such cases, confirmation of pathogenicity of the variants identified should be confirmed by measurement of enzyme activity and/or identification and/or quantification of GAG species. As there is a growing number of countries performing newborn screening for MPS diseases, the investigation of a low enzyme activity by the measurement of GAG species concentration and identification of gene mutations in the same DBS sample is recommended before the suspicion of MPS is taken to the family. With specific therapies already available for most MPS patients, and with clinical trials in progress for many conditions, the specific diagnosis of MPS as early as possible is becoming increasingly necessary. In this review, we describe traditional and the most up to date diagnostic methods for mucopolysaccharidoses.
| S-EPMC7151013 | biostudies-literature
Project description:The aim of this study was to obtain data about the epidemiology of the different types of mucopolysaccharidoses in Japan and Switzerland and to compare with similar data from other countries. Data for Japan was collected between 1982 and 2009, and 467 cases with MPS were identified. The combined birth prevalence was 1.53 per 100,000 live births. The highest birth prevalence was 0.84 for MPS II, accounting for 55% of all MPS. MPS I, III, and IV accounted for 15, 16, and 10%, respectively. MPS VI and VII were more rare and accounted for 1.7 and 1.3%, respectively. A retrospective epidemiological data collection was performed in Switzerland between 1975 and 2008 (34years), and 41 living MPS patients were identified. The combined birth prevalence was 1.56 per 100,000 live births. The highest birth prevalence was 0.46 for MPS II, accounting for 29% of all MPS. MPS I, III, and IV accounted for 12, 24, and 24%, respectively. As seen in the Japanese population, MPS VI and VII were more rare and accounted for 7.3 and 2.4%, respectively. The high birth prevalence of MPS II in Japan was comparable to that seen in other East Asian countries where this MPS accounted for approximately 50% of all forms of MPS. Birth prevalence was also similar in some European countries (Germany, Northern Ireland, Portugal and the Netherlands) although the prevalence of other forms of MPS is also reported to be higher in these countries. Birth prevalence of MPS II in Switzerland and other European countries is comparatively lower. The birth prevalence of MPS III and IV in Switzerland is higher than in Japan but comparable to that in most other European countries. Moreover, the birth prevalence of MPS VI and VII was very low in both, Switzerland and Japan. Overall, the frequency of MPS varies for each population due to differences in ethnic backgrounds and/or founder effects that affect the birth prevalence of each type of MPS, as seen for other rare genetic diseases. Methods for identification of MPS patients are not uniform across all countries, and consequently, if patients are not identified, recorded prevalence rates will be aberrantly low.
| S-EPMC5653283 | biostudies-literature
Project description:Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders (LSDs) caused by a deficiency of lysosomal enzymes, leading to a wide range of various clinical symptoms depending upon the type of MPS or its severity. Enzyme replacement therapy (ERT), hematopoietic stem cell transplantation (HSCT), substrate reduction therapy (SRT), and various surgical procedures are currently available for patients with MPS. However, there is no curative treatment for this group of disorders. Gene therapy should be a one-time permanent therapy, repairing the cause of enzyme deficiency. Preclinical studies of gene therapy for MPS have been developed over the past three decades. Currently, clinical trials of gene therapy for some types of MPS are ongoing in the United States, some European countries, and Australia. Here, in this review, we summarize the development of gene therapy for MPS in preclinical and clinical trials.
| S-EPMC5986190 | biostudies-literature
Project description:BackgroundPatients suffering from mucopolysaccharidosis are among the most complex from the anesthesiological point of view, especially regarding the management of the airway. The evidence base for anesthesia management is often limited to case reports and small case series.AimsTo identify useful information about experience with each subtype of mucopolysaccharidosis reported in the literature and propose a guide on the best options for airway management to the anesthesiologists who take care of these patients.MethodsA query of the PubMed database specific for "anesthesia" and "mucopolysaccharidosis" and a further query specific for "mucopolysaccharidosis and difficult airway management" was conducted. We looked for those items that offered practical guidance to anesthesiological management. We did not exclude case reports, especially those that reported a specific technique, because of their practical suggestions.ResultsWe identified 15 reviews, 17 retrospective case series, 5 prospective studies, and 28 case reports that focused on airway managements in anesthesia or had practical suggestions for preoperative evaluation and risk assessment. An accurate preoperative evaluation and the need for an experienced team are emphasized in all the reviewed articles and for each type of mucopolysaccharidosis. Many suggestions on how to plan the perioperative period have been highlighted. Insertion of a laryngeal mask airway generally improves ventilation and facilitates intubation with a fiberoptic bronchoscope. Furthermore, the videolaryngoscope is very useful in making intubation easier and facilitating bronchoscope passage.ConclusionsPatients with mucopolysaccharidosis are at high risk for anesthesia-related complications and require a high level of attention. However, a multidisciplinary approach, combined with expertise in the use of new techniques and new devices for airway management, makes anesthesiological management safer. Further research with prospective studies would be useful.
| S-EPMC6238251 | biostudies-literature
Project description:Genome editing holds the promise of one-off and potentially curative therapies for many patients with genetic diseases. This is especially true for patients affected by mucopolysaccharidoses as the disease pathophysiology is amenable to correction using multiple approaches. Ex vivo and in vivo genome editing platforms have been tested primarily on MSPI and MPSII, with in vivo approaches having reached clinical testing in both diseases. Though we still await proof of efficacy in humans, the therapeutic tools established for these two diseases should pave the way for other mucopolysaccharidoses. Herein, we review the current preclinical and clinical development studies, using genome editing as a therapeutic approach for these diseases. The development of new genome editing platforms and the variety of genetic modifications possible with each tool provide potential applications of genome editing for mucopolysaccharidoses, which vastly exceed the potential of current approaches. We expect that in a not-so-distant future, more genome editing-based strategies will be established, and individual diseases will be treated through multiple approaches.
| S-EPMC7014411 | biostudies-literature
Project description:The Prototheca algae have recently emerged as an important cause of bovine mastitis globally. Here, we present results of a first large-scale, cross-country survey on the prevalence of Prototheca spp. in dairy cows, and their environment in Poland. A total of 1211 samples were collected and microbiologically analysed. Included within this number were milk (n = 638), body swabs (n = 374) and environmental samples (n = 199), originating from 400 dairy cows and their surroundings, on 16 dairy farms, based in all major provinces of the country. Prototheca spp. were the third, after Streptococcus and Staphylococcus spp., most common mastitis pathogens. The overall prevalence of protothecal mastitis was 8.3% (33/400), with the majority (75.8%) of cases having a subclinical course, and all but one attributable to P. zopfii genotype 2. Prototheca spp. were cultured from body swabs of both healthy and mastitic cows, yet the isolation rate among the latter was conspicuously lower (12.3% vs. 17.8%). Forty-two (21.2%) environmental samples yielded growth of Prototheca spp. However, no clear association between Prototheca mastitis in dairy cows and the algal isolation from the herd environment was found. Nor was there any association between the environmental recovery of the algae and farm management practices.
| S-EPMC6465227 | biostudies-other