Pub Date : 2016-03-25DOI: 10.4172/2157-7412.1000i103
E. Abdalla
Nager syndrome is an extremely rare genetic condition, that this case is the first reported from Egypt. The affected infant manifested a severe phenotype with growth retardation and congenital heart defect. Limb anomalies are a cardinal sign and, in combination with the characteristic craniofacial features, are diagnostic.
{"title":"Nager Syndrome: Report of Clinical and Radiological Findings in an EgyptianInfant","authors":"E. Abdalla","doi":"10.4172/2157-7412.1000i103","DOIUrl":"https://doi.org/10.4172/2157-7412.1000i103","url":null,"abstract":"Nager syndrome is an extremely rare genetic condition, that this case is the first reported from Egypt. The affected infant manifested a severe phenotype with growth retardation and congenital heart defect. Limb anomalies are a cardinal sign and, in combination with the characteristic craniofacial features, are diagnostic.","PeriodicalId":89584,"journal":{"name":"Journal of genetic syndromes & gene therapy","volume":"29 1","pages":"1-2"},"PeriodicalIF":0.0,"publicationDate":"2016-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75303732","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2016-03-24DOI: 10.4172/2157-7412.1000292
Xia Wang, R. Tousignant, A. Levin, B. Niell, J. Blakeley, M. Acosta, B. Korf
Objective: Neurofibromatosis type 1 (NF1) is a complex hereditary syndrome with multi-systemic involvement and propensity to develop a variety of tumors. Despite the increased risk for malignant neoplasms and shortened life-span, there is no targeted cancer surveillance strategy. Clinical features of NF1 and family history may be associated with occurrence of certain neoplasms and serve as indicators for targeted surveillance. Methods: This multi-centre retrospective study reviewed the records of 423 women with NF1. The associations between neoplasms, clinical features and family history were analyzed. Results: The occurrence of breast cancers is positively associated (p = 0.004) with family history of any cancers, 9.6% (12/125) with family history vs. 2.7% (8/298) without. An association between NF1 clinical phenotypes (i.e. dermal neurofibroma burden) and cancer was not observed. However, the rate of malignant peripheral sheath tumor (MPNST) was significantly higher (p = 0.049) in women with plexiform neurofibroma (PN) than women without, 7.9% (11/139) vs. 3.14% (7/223). Women with learning disabilities have a higher rate (p = 0.019) of central nervous system (CNS) tumors including optic glioma (OPG) than women without, 22.2% (20/90) vs.11.2% (21/187). European Americans (EAs) are significantly more likely (p = 0.002) to develop CNS tumors (21.2%, 41/193) than African Americans (AAs) (6.8%, 6/88). Conclusion: Family history of any cancers, preexisting PN, learning disability and EA ancestry is linked to higher risk of breast cancer, MPNST, and CNS tumors/OPG, respectively.
{"title":"Indicator Exploration for Cancers in Women with Neurofibromatosis Type 1 - A Multi-Centre Retrospective Study","authors":"Xia Wang, R. Tousignant, A. Levin, B. Niell, J. Blakeley, M. Acosta, B. Korf","doi":"10.4172/2157-7412.1000292","DOIUrl":"https://doi.org/10.4172/2157-7412.1000292","url":null,"abstract":"Objective: Neurofibromatosis type 1 (NF1) is a complex hereditary syndrome with multi-systemic involvement and propensity to develop a variety of tumors. Despite the increased risk for malignant neoplasms and shortened life-span, there is no targeted cancer surveillance strategy. Clinical features of NF1 and family history may be associated with occurrence of certain neoplasms and serve as indicators for targeted surveillance. Methods: This multi-centre retrospective study reviewed the records of 423 women with NF1. The associations between neoplasms, clinical features and family history were analyzed. Results: The occurrence of breast cancers is positively associated (p = 0.004) with family history of any cancers, 9.6% (12/125) with family history vs. 2.7% (8/298) without. An association between NF1 clinical phenotypes (i.e. dermal neurofibroma burden) and cancer was not observed. However, the rate of malignant peripheral sheath tumor (MPNST) was significantly higher (p = 0.049) in women with plexiform neurofibroma (PN) than women without, 7.9% (11/139) vs. 3.14% (7/223). Women with learning disabilities have a higher rate (p = 0.019) of central nervous system (CNS) tumors including optic glioma (OPG) than women without, 22.2% (20/90) vs.11.2% (21/187). European Americans (EAs) are significantly more likely (p = 0.002) to develop CNS tumors (21.2%, 41/193) than African Americans (AAs) (6.8%, 6/88). Conclusion: Family history of any cancers, preexisting PN, learning disability and EA ancestry is linked to higher risk of breast cancer, MPNST, and CNS tumors/OPG, respectively.","PeriodicalId":89584,"journal":{"name":"Journal of genetic syndromes & gene therapy","volume":"45 1","pages":"1-6"},"PeriodicalIF":0.0,"publicationDate":"2016-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90628724","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2016-03-17DOI: 10.4172/2157-7412.1000291
Rabah Al-Mehisen, Ramy El Essely, M. Al-Mallah, M. Al-Mohaissen, T. Kashour
Quadricuspid aortic valve (QAV) is a rare congenital anomaly which is associated with coronary artery anomalies in 10% of the patients. The association of QAV with single coronary artery (SCA) is very rare has been reported only in one case previously. We report the case of a 30-year-old male patient with a unique constellation of congenital anomalies including QAV, SCA, solitary kidney and Tessier type 3 oblique facial cleft with cleft palate. To our knowledge, this unique combination has never been described previously. We describe his case and review the topic of QAV and its reported cardiac and systemic associations.
{"title":"Quadricuspid Aortic Valve, Single Coronary Artery, Solitary Kidney and Oblique Facial Cleft. A Unique Constellation of Congenital Abnormalities: Case Report and Review of the Literature","authors":"Rabah Al-Mehisen, Ramy El Essely, M. Al-Mallah, M. Al-Mohaissen, T. Kashour","doi":"10.4172/2157-7412.1000291","DOIUrl":"https://doi.org/10.4172/2157-7412.1000291","url":null,"abstract":"Quadricuspid aortic valve (QAV) is a rare congenital anomaly which is associated with coronary artery anomalies in 10% of the patients. The association of QAV with single coronary artery (SCA) is very rare has been reported only in one case previously. We report the case of a 30-year-old male patient with a unique constellation of congenital anomalies including QAV, SCA, solitary kidney and Tessier type 3 oblique facial cleft with cleft palate. To our knowledge, this unique combination has never been described previously. We describe his case and review the topic of QAV and its reported cardiac and systemic associations.","PeriodicalId":89584,"journal":{"name":"Journal of genetic syndromes & gene therapy","volume":"39 1","pages":"1-6"},"PeriodicalIF":0.0,"publicationDate":"2016-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89215981","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2016-03-10DOI: 10.4172/2157-7412.1000290
Dorota Hoffman Zacharskaa, I. Terczyńska, Paulina Górka-Skoczylasa, Anna Wiktor, T. Mazurczak, Jolanta Góral, A. Charzewska, K. Duszyc, E. Szczepanik
Dravet Syndrome (DS) and Genetic Epilepsy with Febrile Seizures plus (GEFS+) are very often caused by mutations in the SCNA1A gene. These mutations also have been identified in families with migraine phenotypes, supporting the link between migraine and epilepsy. The SCN1A substitution p.Trp1174Ser has been reported as a cause of familial migraine and familial mixed phenotypes with seizures / hemiplegic migraine. We present this mutation as a causative factor of familial GEFS+ syndrome, but also as a factor potentially changing the phenotypes of the epileptic encephalopathies caused by mutations in the SCN1A, ARX or PCDH19 genes. Substitution p.Trp1174Ser was identified in five probands clinically diagnosed as spectrum of GEFS+ or DS. As it has not been regarded as significant for the epileptic encephalopathy, they underwent additional testing according to the revised phenotypes. Probands were finally diagnosed with GEFS+ (p.Trp1174Ser SCN1A mutation only) and epileptic encephalopathies: DS (p.Arg712* and p.Arg1245* in SCN1A), Epilepsy and Mental Retardation Limited to Females (p.Asp155Tyr in PCDH19) and atypical West Syndrome (del79nt IVS4/Ex5 in ARX). This study indicates a complex involvement of some SCN1A mutations in epilepsies / epileptic encephalopathies also as a modifying factor with the SCN1A, PCDH19, ARX and possibly mutations in other genes. In cases with atypical or "plus" course or more severe course the possible involvement of other genetic factors should always be considered. Additional modifiers identification may influence on clinical prognosis, patient management and genetic counselling.
{"title":"Can the p.Thr1174Ser Mutation in SCN1A Gene Shape Genetic Background inEpileptic Encephalopathies","authors":"Dorota Hoffman Zacharskaa, I. Terczyńska, Paulina Górka-Skoczylasa, Anna Wiktor, T. Mazurczak, Jolanta Góral, A. Charzewska, K. Duszyc, E. Szczepanik","doi":"10.4172/2157-7412.1000290","DOIUrl":"https://doi.org/10.4172/2157-7412.1000290","url":null,"abstract":"Dravet Syndrome (DS) and Genetic Epilepsy with Febrile Seizures plus (GEFS+) are very often caused by mutations in the SCNA1A gene. These mutations also have been identified in families with migraine phenotypes, supporting the link between migraine and epilepsy. The SCN1A substitution p.Trp1174Ser has been reported as a cause of familial migraine and familial mixed phenotypes with seizures / hemiplegic migraine. We present this mutation as a causative factor of familial GEFS+ syndrome, but also as a factor potentially changing the phenotypes of the epileptic encephalopathies caused by mutations in the SCN1A, ARX or PCDH19 genes. Substitution p.Trp1174Ser was identified in five probands clinically diagnosed as spectrum of GEFS+ or DS. As it has not been regarded as significant for the epileptic encephalopathy, they underwent additional testing according to the revised phenotypes. Probands were finally diagnosed with GEFS+ (p.Trp1174Ser SCN1A mutation only) and epileptic encephalopathies: DS (p.Arg712* and p.Arg1245* in SCN1A), Epilepsy and Mental Retardation Limited to Females (p.Asp155Tyr in PCDH19) and atypical West Syndrome (del79nt IVS4/Ex5 in ARX). This study indicates a complex involvement of some SCN1A mutations in epilepsies / epileptic encephalopathies also as a modifying factor with the SCN1A, PCDH19, ARX and possibly mutations in other genes. In cases with atypical or \"plus\" course or more severe course the possible involvement of other genetic factors should always be considered. Additional modifiers identification may influence on clinical prognosis, patient management and genetic counselling.","PeriodicalId":89584,"journal":{"name":"Journal of genetic syndromes & gene therapy","volume":"14 1","pages":"1-8"},"PeriodicalIF":0.0,"publicationDate":"2016-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78569670","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2016-02-24DOI: 10.4172/2157-7412.1000288
M. E. Pereira, Ricardo Caetano Silva, A. Velosa, B. Barahona-Corrêa
We present the case of an 18-year-old man with the karyotype 46, XY, del (4) (q21.1q21.3), and describe in detail the clinical findings, with emphasis on the psychiatric symptoms and their management. 4q- syndrome comprises all deletions of the long arm of chromosome 4. It consists of facial and digital dysmorphisms, skeletal and cardiac defects, growth retardation and learning difficulties. Our report contributes to the understanding of the natural history and management of this rare chromosomal disorder.
我们提出了一个18岁的男性核型46,XY, del (4) (q21.1q21.3)的病例，并详细描述了临床表现，重点是精神症状及其管理。4q-综合征包括4号染色体长臂的所有缺失。它包括面部和数字畸形，骨骼和心脏缺陷，生长迟缓和学习困难。我们的报告有助于了解这种罕见的染色体疾病的自然历史和管理。
{"title":"4q- Deletion Syndrome: Psychiatric Symptoms in a Rare Chromosomal Disorder","authors":"M. E. Pereira, Ricardo Caetano Silva, A. Velosa, B. Barahona-Corrêa","doi":"10.4172/2157-7412.1000288","DOIUrl":"https://doi.org/10.4172/2157-7412.1000288","url":null,"abstract":"We present the case of an 18-year-old man with the karyotype 46, XY, del (4) (q21.1q21.3), and describe in detail the clinical findings, with emphasis on the psychiatric symptoms and their management. 4q- syndrome comprises all deletions of the long arm of chromosome 4. It consists of facial and digital dysmorphisms, skeletal and cardiac defects, growth retardation and learning difficulties. Our report contributes to the understanding of the natural history and management of this rare chromosomal disorder.","PeriodicalId":89584,"journal":{"name":"Journal of genetic syndromes & gene therapy","volume":"18 1","pages":"1-3"},"PeriodicalIF":0.0,"publicationDate":"2016-02-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73433349","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2016-02-24DOI: 10.4172/2157-7412.1000289
P. Parazzi, Fern, O. Marson, M. A. Ribeiro, C. Schivinski, J. Ribeiro
Tools that assess the response of the body to exercise activities have been sought in numerous clinical situations. Chronic obstructive pulmonary diseases such as cystic fibrosis (CF) may lead to reduction or limitation in exercise performance by ventilator factors. Consequently, a reduction in lung function can be observed, characterized by decreased respiratory reserve and dynamic hyperinflation during exercise. Various instruments have been developed and studied in thepediatricpopulation in order to evaluate the functional capacity during exercise, being grouped into maximal tests and submaximal tests. The difference between maximal and submaximal tests depends on whether the test is performed in an open area or laboratory, with ergometers or not. In the maximal test, the individual performs the activity to achieve voluntary exhaustion, leading the participant to the fullest of their oxygen uptake and/or estimated (more than 90%) heart rate (HR). In the submaximal tests, the HR is located around 75% to 90% of the maximum estimated HR. In the study, we used a reproducible exercise test protocol in accordance with the pediatric age group. We used the VCap, as an evaluation feature for lung function in children and adolescents with CF and with various degrees of severity of lung disease. We have identified the inhomogeneity of distribution of ventilation in the peripheral airways of patients with normal spirometry. Our findings collaborate with the idea that the VCap is a respiratory assessment tool that is practical, inexpensive and easy to use. The VCap provides information on the pulmonary involvement by the indices and is considered an assessment tool of the degree of regional heterogeneity of the lung for gas exchange. Thus, the VCap is a tool that can be used for analysis of ventilatory efficiency during exercise, providing evidence that the cardiorespiratory response that can be measured non-invasively during exercise testing.
{"title":"Use of Volumetric Capnography in Submaximal Exercise Test: What Did We Learn?","authors":"P. Parazzi, Fern, O. Marson, M. A. Ribeiro, C. Schivinski, J. Ribeiro","doi":"10.4172/2157-7412.1000289","DOIUrl":"https://doi.org/10.4172/2157-7412.1000289","url":null,"abstract":"Tools that assess the response of the body to exercise activities have been sought in numerous clinical situations. Chronic obstructive pulmonary diseases such as cystic fibrosis (CF) may lead to reduction or limitation in exercise performance by ventilator factors. Consequently, a reduction in lung function can be observed, characterized by decreased respiratory reserve and dynamic hyperinflation during exercise. Various instruments have been developed and studied in thepediatricpopulation in order to evaluate the functional capacity during exercise, being grouped into maximal tests and submaximal tests. The difference between maximal and submaximal tests depends on whether the test is performed in an open area or laboratory, with ergometers or not. In the maximal test, the individual performs the activity to achieve voluntary exhaustion, leading the participant to the fullest of their oxygen uptake and/or estimated (more than 90%) heart rate (HR). In the submaximal tests, the HR is located around 75% to 90% of the maximum estimated HR. In the study, we used a reproducible exercise test protocol in accordance with the pediatric age group. We used the VCap, as an evaluation feature for lung function in children and adolescents with CF and with various degrees of severity of lung disease. We have identified the inhomogeneity of distribution of ventilation in the peripheral airways of patients with normal spirometry. Our findings collaborate with the idea that the VCap is a respiratory assessment tool that is practical, inexpensive and easy to use. The VCap provides information on the pulmonary involvement by the indices and is considered an assessment tool of the degree of regional heterogeneity of the lung for gas exchange. Thus, the VCap is a tool that can be used for analysis of ventilatory efficiency during exercise, providing evidence that the cardiorespiratory response that can be measured non-invasively during exercise testing.","PeriodicalId":89584,"journal":{"name":"Journal of genetic syndromes & gene therapy","volume":"296 1","pages":"1-3"},"PeriodicalIF":0.0,"publicationDate":"2016-02-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79669094","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2016-02-22DOI: 10.4172/2157-7412.1000287
Pınar Zengin AkkuÅ, A. Cetinkaya, Deniz ÇaÄdaÅ Ayvaz, Mehmet AlikaÅifoÄlu, Ayfer AlikaÅifoÄlu, K. Nurgün, Emir, Ä°lhan Tezcan, G. Utine, Koray BoduroÄlu
Monosomy 18p is a relatively frequent deletion syndrome with an estimated frequency of one in 50,000 liveborns. Most frequent findings consist of mild to moderate growth deficiency, intellectual disability, microcephaly, and facial dysmorphic features including ptosis, epicanthic folds, low nasal bridge, hypertelorism and large protruding ears. Anomalies of other systems may accompany. A 31-year-old male patient with dysmorphic facial features, congenital hypothyroidism, growth hormone deficiency and intellectual disability was diagnosed with monosomy 18p. The patient who also suffered from recurrent aphthous stomatitis and otitis during childhood and selective IgA deficiency was also diagnosed. Monosomy 18p in this patient was further analyzed with SNP microarrays. The 18p deletion caused monosomy of a segment larger than 18 Mb, which consisted many OMIM genes. Deleted genes in this region are known to have a diverse array of functions in various cellular processes. Estimating the possible pathogenic roles of these gene deletions over cellular functions may be difficult for today, however, precise delineation of molecular findings would lead to a better understanding of disease pathogenesis in future.
{"title":"An Adult Patient with Monosomy 18p, Growth Hormone Deficiency and Selective IgA Deficiency","authors":"Pınar Zengin AkkuÅ, A. Cetinkaya, Deniz ÇaÄdaÅ Ayvaz, Mehmet AlikaÅifoÄlu, Ayfer AlikaÅifoÄlu, K. Nurgün, Emir, Ä°lhan Tezcan, G. Utine, Koray BoduroÄlu","doi":"10.4172/2157-7412.1000287","DOIUrl":"https://doi.org/10.4172/2157-7412.1000287","url":null,"abstract":"Monosomy 18p is a relatively frequent deletion syndrome with an estimated frequency of one in 50,000 liveborns. Most frequent findings consist of mild to moderate growth deficiency, intellectual disability, microcephaly, and facial dysmorphic features including ptosis, epicanthic folds, low nasal bridge, hypertelorism and large protruding ears. Anomalies of other systems may accompany. A 31-year-old male patient with dysmorphic facial features, congenital hypothyroidism, growth hormone deficiency and intellectual disability was diagnosed with monosomy 18p. The patient who also suffered from recurrent aphthous stomatitis and otitis during childhood and selective IgA deficiency was also diagnosed. Monosomy 18p in this patient was further analyzed with SNP microarrays. The 18p deletion caused monosomy of a segment larger than 18 Mb, which consisted many OMIM genes. Deleted genes in this region are known to have a diverse array of functions in various cellular processes. Estimating the possible pathogenic roles of these gene deletions over cellular functions may be difficult for today, however, precise delineation of molecular findings would lead to a better understanding of disease pathogenesis in future.","PeriodicalId":89584,"journal":{"name":"Journal of genetic syndromes & gene therapy","volume":"48 1","pages":"1-4"},"PeriodicalIF":0.0,"publicationDate":"2016-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88925692","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2016-02-12DOI: 10.4172/2157-7412.1000I102
E. Abdalla, Israa Alaa-Eddin
Volume 7 • Issue 2 • 1000i102 J Genet Syndr Gene Ther ISSN: 2157-7412 JGSGT, an open access journal A two-month-old male infant presented with peculiar bilateral lower limb malformations. He was born at term to unrelated healthy Egyptian parents after an uncomplicated pregnancy and delivery. There was no history of drug use, alcohol intake or exposure to teratogenic agents in pregnancy and the family history was also unremarkable.
{"title":"Bilateral Fibular Dimelia with Mirror Foot: An Additional Case Report","authors":"E. Abdalla, Israa Alaa-Eddin","doi":"10.4172/2157-7412.1000I102","DOIUrl":"https://doi.org/10.4172/2157-7412.1000I102","url":null,"abstract":"Volume 7 • Issue 2 • 1000i102 J Genet Syndr Gene Ther ISSN: 2157-7412 JGSGT, an open access journal A two-month-old male infant presented with peculiar bilateral lower limb malformations. He was born at term to unrelated healthy Egyptian parents after an uncomplicated pregnancy and delivery. There was no history of drug use, alcohol intake or exposure to teratogenic agents in pregnancy and the family history was also unremarkable.","PeriodicalId":89584,"journal":{"name":"Journal of genetic syndromes & gene therapy","volume":"59 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2016-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90251527","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2016-02-12DOI: 10.4172/2157-7412.1000286
A. Blaeser, A. Harper, K. Campbell, Q. Lu
The Fourth International Workshop for Glycosylation Defects in Muscular Dystrophies took place on April 16- 17, 2015 at the Fairfield Inn and Suites Charlotte Uptown, Charlotte, North Carolina. The workshop was hosted by the McColl-Lockwood Laboratory for Muscular Dystrophy Research, and sponsored by the Carolinas HealthCare Foundation, the Muscular Dystrophy Association (MDA), funds raised by “Riding 4 Research” and generous support from the McColl and Lockwood families. Clinicians and scientists from the US, UK, Germany and Japan presented a total of 21 talks spread out over 2 days. The workshop was divided into three sessions: Session A focused on the current status of the development of animal models for diseases caused by defects in muscle-protein glycosylation, on our current understanding of such glycosylation and on the mechanisms that lead to disease. Session B focused on preclinical therapeutics, in particular on AAV- and drug-based therapies. Session C covered the clinical management of muscular dystrophies and endpoint evaluation.
{"title":"Report: Fourth International Workshop for Glycosylation Defects inMuscular Dystrophies","authors":"A. Blaeser, A. Harper, K. Campbell, Q. Lu","doi":"10.4172/2157-7412.1000286","DOIUrl":"https://doi.org/10.4172/2157-7412.1000286","url":null,"abstract":"The Fourth International Workshop for Glycosylation Defects in Muscular Dystrophies took place on April 16- 17, 2015 at the Fairfield Inn and Suites Charlotte Uptown, Charlotte, North Carolina. The workshop was hosted by the McColl-Lockwood Laboratory for Muscular Dystrophy Research, and sponsored by the Carolinas HealthCare Foundation, the Muscular Dystrophy Association (MDA), funds raised by “Riding 4 Research” and generous support from the McColl and Lockwood families. Clinicians and scientists from the US, UK, Germany and Japan presented a total of 21 talks spread out over 2 days. The workshop was divided into three sessions: Session A focused on the current status of the development of animal models for diseases caused by defects in muscle-protein glycosylation, on our current understanding of such glycosylation and on the mechanisms that lead to disease. Session B focused on preclinical therapeutics, in particular on AAV- and drug-based therapies. Session C covered the clinical management of muscular dystrophies and endpoint evaluation.","PeriodicalId":89584,"journal":{"name":"Journal of genetic syndromes & gene therapy","volume":"1997 1","pages":"1-5"},"PeriodicalIF":0.0,"publicationDate":"2016-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82498237","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2016-02-08DOI: 10.4172/2157-7412.1000285
A. Lavaris, M. Gazouli, G. Kitsos, D. Brouzas, M. Moschos
Purpose: Glaucoma is a multifactorial optic neuropathy and leading cause of visual impairment and blindness. Multigenic inheritance hypothesis is being investigated over the past decades and numerous mainly causative and synergic polymorphisms have been revealed. Aim of this study is to investigate whether superoxide dismutase 2 (SOD2) polymorphism rs4880 is associated with primary open angle glaucoma (POAG) in Greek population. Materials and method: This is a case control study of 106 POAG patients and 120 thoroughly examined, unrelated, healthy control subjects of Greek origin, surveyed for SOD2 polymorphism rs4880 and potential correlation to POAG. Results: SOD2 rs4880 polymorphism showed no statistically significant difference between POAG patients and healthy controls. Mean intraocular pressure (IOP) of both eyes of the heterozygous (T/C) group was found significantly higher than in homozygous (T/T) group (19.13 ± 0.60 vs. 17.59 ± 0.33, p = 0.02). When we compared the IOP in each eye separately, the (T/C) and (C/C) carriers had significantly higher IOP on their left eye compared to the (T/T) carriers [(Τ/C) 18.79 ± 0.56 vs. (Τ/Τ) 17.2 ± 0.36, p = 0.02 and (C/C) 20.75 ± 2.14 vs. (Τ/Τ) 17.2 ± 0.36, p = 0.03). Conclusion: Our study did not find any significant association between SOD2 rs4880 polymorphism and POAG. Mean IOP of the polymorphic (C) allele carriers was found significantly higher than in homozygous (T/T) group. As we cannot reject the possibility that oxidative stress might be a crucial factor for the POAG development further studies may be needed to confirm the importance of SOD2 gene in POAG pathogenesis.
目的:青光眼是一种多因素的视神经病变，是导致视力损害和失明的主要原因。在过去的几十年里，人们对多基因遗传假说进行了研究，发现了许多主要的致病多态性和协同多态性。本研究旨在探讨希腊人群中超氧化物歧化酶2 (SOD2)多态性rs4880是否与原发性开角型青光眼(POAG)相关。材料和方法:本研究对106例POAG患者和120例经彻底检查的希腊裔健康对照者进行病例对照研究，调查SOD2多态性rs4880及其与POAG的潜在相关性。结果:SOD2 rs4880多态性在POAG患者与健康对照组之间无统计学差异。杂合子(T/C)组双眼平均眼压(IOP)显著高于纯合子(T/T)组(19.13±0.60 vs. 17.59±0.33,p = 0.02)。当我们分别比较每只眼的IOP时，(T/C)和(C/C)携带者的左眼IOP明显高于(T/T)携带者[(Τ/C) 18.79±0.56 vs. (Τ/Τ) 17.2±0.36,p = 0.02]和(C/C) 20.75±2.14 vs. (Τ/Τ) 17.2±0.36,p = 0.03]。结论:本研究未发现SOD2 rs4880多态性与POAG存在显著相关性。多态(C)等位基因携带者的平均IOP显著高于纯合(T/T)组。由于我们不能否认氧化应激可能是POAG发生的关键因素，因此需要进一步的研究来证实SOD2基因在POAG发病机制中的重要性。
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