Pub Date : 2021-01-01DOI: 10.1007/978-3-319-66816-1_1339-1
Rami A Ballout
{"title":"Niemann-Pick Disease Type C (NPC)","authors":"Rami A Ballout","doi":"10.1007/978-3-319-66816-1_1339-1","DOIUrl":"https://doi.org/10.1007/978-3-319-66816-1_1339-1","url":null,"abstract":"","PeriodicalId":89584,"journal":{"name":"Journal of genetic syndromes & gene therapy","volume":"33 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73685087","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 : 2021-01-01DOI: 10.1007/978-3-319-66816-1_1417-1
H. I. Roessler, M. V. van Haelst
{"title":"Cantú Syndrome","authors":"H. I. Roessler, M. V. van Haelst","doi":"10.1007/978-3-319-66816-1_1417-1","DOIUrl":"https://doi.org/10.1007/978-3-319-66816-1_1417-1","url":null,"abstract":"","PeriodicalId":89584,"journal":{"name":"Journal of genetic syndromes & gene therapy","volume":"116 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87788943","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}
Clinical characteristics Poikiloderma with neutropenia (PN) is characterized by an inflammatory eczematous rash (ages 6-12 months) followed by post-inflammatory poikiloderma (age >2 years) and chronic noncyclic neutropenia typically associated with recurrent sinopulmonary infections in the first two years of life and (often) bronchiectasis. There is increased risk for myelodysplastic syndrome and, rarely, acute myelogenous leukemia. Other ectodermal findings include nail dystrophy and palmar/plantar hyperkeratosis. Most affected individuals also have reactive airway disease and some have short stature, hypogonadotropic hypogonadism, midfacial retrusion, calcinosis cutis, and non-healing skin ulcers. Diagnosis/testing Often the diagnosis of PN can be established in a proband based on clinical findings (post-inflammatory poikiloderma and congenital chronic neutropenia). Unequivocal confirmation of the diagnosis of PN relies on detection of biallelic USB1 pathogenic variants on molecular genetic testing. Management Treatment of manifestations: Dermatologic manifestations are treated with gentle skin care using bland emollients and diligent sun protection; very pruritic palmar/plantar hyperkeratosis can be treated with a strong topical steroid or a topical keratolytic if secondary dermatophyte infection has been ruled out. Although use of granulocyte-colony stimulating factor (G-CSF) increases the absolute neutrophil count, there is little evidence of its clinical effect (such as decreased frequency of infections). Myelodysplastic syndrome and acute myelogenous leukemia are treated in the usual manner. Sinopulmonary, middle ear, and skin infections require aggressive treatment with antibiotics. Reactive airway disease and hypogonadotropic hypogonadism are treated in the usual manner. Prevention of secondary complications: Annual influenza vaccine; dental cleaning and evaluation for gingivitis/caries every three to six months; liberal use of sunscreens with both UVA and UVB protection to reduce the risk of skin cancer. Surveillance: Annual evaluation: In children: routine monitoring of growth, developmental milestones, school progress, and pubertal development. Agents/circumstances to avoid: Excessive sun exposure (to decrease risk of skin cancer); exposure to second-hand cigarette or wood smoke and persons with respiratory illnesses (to decrease the risk of respiratory infections). Evaluation of relatives at risk: It is appropriate to evaluate apparently asymptomatic older and younger sibs of a proband in order to identify as early as possible those who would benefit from prompt initiation of treatment and surveillance for potential complications. Genetic counseling PN is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Once the USB1 pathogenic variants have been identi
{"title":"Poikiloderma with Neutropenia","authors":"Lisa L. Wang, C. Clericuzio, L. Larizza","doi":"10.32388/bu523w","DOIUrl":"https://doi.org/10.32388/bu523w","url":null,"abstract":"Clinical characteristics Poikiloderma with neutropenia (PN) is characterized by an inflammatory eczematous rash (ages 6-12 months) followed by post-inflammatory poikiloderma (age >2 years) and chronic noncyclic neutropenia typically associated with recurrent sinopulmonary infections in the first two years of life and (often) bronchiectasis. There is increased risk for myelodysplastic syndrome and, rarely, acute myelogenous leukemia. Other ectodermal findings include nail dystrophy and palmar/plantar hyperkeratosis. Most affected individuals also have reactive airway disease and some have short stature, hypogonadotropic hypogonadism, midfacial retrusion, calcinosis cutis, and non-healing skin ulcers. Diagnosis/testing Often the diagnosis of PN can be established in a proband based on clinical findings (post-inflammatory poikiloderma and congenital chronic neutropenia). Unequivocal confirmation of the diagnosis of PN relies on detection of biallelic USB1 pathogenic variants on molecular genetic testing. Management Treatment of manifestations: Dermatologic manifestations are treated with gentle skin care using bland emollients and diligent sun protection; very pruritic palmar/plantar hyperkeratosis can be treated with a strong topical steroid or a topical keratolytic if secondary dermatophyte infection has been ruled out. Although use of granulocyte-colony stimulating factor (G-CSF) increases the absolute neutrophil count, there is little evidence of its clinical effect (such as decreased frequency of infections). Myelodysplastic syndrome and acute myelogenous leukemia are treated in the usual manner. Sinopulmonary, middle ear, and skin infections require aggressive treatment with antibiotics. Reactive airway disease and hypogonadotropic hypogonadism are treated in the usual manner. Prevention of secondary complications: Annual influenza vaccine; dental cleaning and evaluation for gingivitis/caries every three to six months; liberal use of sunscreens with both UVA and UVB protection to reduce the risk of skin cancer. Surveillance: Annual evaluation: In children: routine monitoring of growth, developmental milestones, school progress, and pubertal development. Agents/circumstances to avoid: Excessive sun exposure (to decrease risk of skin cancer); exposure to second-hand cigarette or wood smoke and persons with respiratory illnesses (to decrease the risk of respiratory infections). Evaluation of relatives at risk: It is appropriate to evaluate apparently asymptomatic older and younger sibs of a proband in order to identify as early as possible those who would benefit from prompt initiation of treatment and surveillance for potential complications. Genetic counseling PN is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Once the USB1 pathogenic variants have been identi","PeriodicalId":89584,"journal":{"name":"Journal of genetic syndromes & gene therapy","volume":"34 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78162088","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 : 2020-01-01DOI: 10.4172/2157-7412.20.11.327
A. Hacobian, D. Hercher, Benedikt Regner, A. Frischer, S. Sperger, H. Redl, A. Zimmermann
ABSTRACT To date, the significant osteoinductive potential of bone morphogenetic protein 2 (BMP-2) non-viral gene therapy cannot be fully exploited therapeutically. This is mainly due to weak gene delivery and brief expression peaks restricting the therapeutic effect. The use of minicircle DNA allows prolonged expression potential. It offers notable advantages over conventional plasmid DNA. The lack of bacterial sequences and the resulting reduction in size, enable safe usage and improved performance for tissue regeneration. In this study, we report the combination of an optimized BMP-2 cassette (in the following referred to as conventional BMP-2-Advanced plasmid) with minicircle plasmid technology, thereby attaining an improved therapeutic plasmid for osteogenic gene therapy. C2C12 cell line transfected with BMP-2-Advanced minicircle showed significantly elevated expression of osteocalcin, alkaline phosphatase (ALP) activity and BMP-2 protein amount when compared to cells transfected with conventional BMP-2-Advanced plasmid. Furthermore, the plasmids show suitability for stem cell approaches by showing significantly higher levels of ALP activity and mineralization when introduced into human bone marrow stem cells (BMSCs). Here in, we present a highly bioactive BMP-2 minicircle plasmid with the potential to fulfill requirements for clinical translation in the field of bone regeneration.
{"title":"Evaluation of BMP-2 Minicircle DNA for Enhanced Bone Engineering and Regeneration","authors":"A. Hacobian, D. Hercher, Benedikt Regner, A. Frischer, S. Sperger, H. Redl, A. Zimmermann","doi":"10.4172/2157-7412.20.11.327","DOIUrl":"https://doi.org/10.4172/2157-7412.20.11.327","url":null,"abstract":"ABSTRACT To date, the significant osteoinductive potential of bone morphogenetic protein 2 (BMP-2) non-viral gene therapy cannot be fully exploited therapeutically. This is mainly due to weak gene delivery and brief expression peaks restricting the therapeutic effect. The use of minicircle DNA allows prolonged expression potential. It offers notable advantages over conventional plasmid DNA. The lack of bacterial sequences and the resulting reduction in size, enable safe usage and improved performance for tissue regeneration. In this study, we report the combination of an optimized BMP-2 cassette (in the following referred to as conventional BMP-2-Advanced plasmid) with minicircle plasmid technology, thereby attaining an improved therapeutic plasmid for osteogenic gene therapy. C2C12 cell line transfected with BMP-2-Advanced minicircle showed significantly elevated expression of osteocalcin, alkaline phosphatase (ALP) activity and BMP-2 protein amount when compared to cells transfected with conventional BMP-2-Advanced plasmid. Furthermore, the plasmids show suitability for stem cell approaches by showing significantly higher levels of ALP activity and mineralization when introduced into human bone marrow stem cells (BMSCs). Here in, we present a highly bioactive BMP-2 minicircle plasmid with the potential to fulfill requirements for clinical translation in the field of bone regeneration.","PeriodicalId":89584,"journal":{"name":"Journal of genetic syndromes & gene therapy","volume":"6 1","pages":"1-9"},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85653816","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 : 2020-01-01DOI: 10.1007/978-3-319-66816-1_18-1
H. de la Salle, W. Reith
{"title":"Bare Lymphocyte Syndrome (Type I)","authors":"H. de la Salle, W. Reith","doi":"10.1007/978-3-319-66816-1_18-1","DOIUrl":"https://doi.org/10.1007/978-3-319-66816-1_18-1","url":null,"abstract":"","PeriodicalId":89584,"journal":{"name":"Journal of genetic syndromes & gene therapy","volume":"31 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89908993","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 : 2020-01-01DOI: 10.4172/2157-7412.20.11.330
Smruti R. Sahoo
Sickle cell disorder (SCD), one of the most common genetic disorders worldwide, is now considered as of global importance and medical significance. SCD is a group of red blood cell disorders inherited from a person’s parents where both the parents are carrier for the gene. Sickle cell anemia is an autosomal linked recessive trait, causing severe associated health problems leading to reduced life span. With the help of improved novel strategies and therapies, it is utmost important that the treatment is availed by the less-resourceful, impoverished countries.
{"title":"Sickle Cell Anemia: A Brief Synopsis","authors":"Smruti R. Sahoo","doi":"10.4172/2157-7412.20.11.330","DOIUrl":"https://doi.org/10.4172/2157-7412.20.11.330","url":null,"abstract":"Sickle cell disorder (SCD), one of the most common genetic disorders worldwide, is now considered as of global importance and medical significance. SCD is a group of red blood cell disorders inherited from a person’s parents where both the parents are carrier for the gene. Sickle cell anemia is an autosomal linked recessive trait, causing severe associated health problems leading to reduced life span. With the help of improved novel strategies and therapies, it is utmost important that the treatment is availed by the less-resourceful, impoverished countries.","PeriodicalId":89584,"journal":{"name":"Journal of genetic syndromes & gene therapy","volume":"68 1","pages":"1-2"},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72982336","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}
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