Pub Date : 2020-03-25DOI: 10.5772/intechopen.89624
Renfen Chen
Légeret C, Meyer BJ, Rovina A, Deigendesch N, Berger CT, Daikeler T, Heijnen I, Burstein E, Köhler H and Recher M (2020). JAK inhibition in a patient with X-linked reticulate pigmentary disorder J Clin Immunol. in press. Delmonte OM, Baldin F, Ovchinsky N, Marquardsen F, Recher M, Notarangelo LD, and Kosinski SM (2020). Novel Missense Mutation in SP110 Associated with Combined Immunodeficiency and Advanced Liver Disease Without VOD. J Clin Immunol 40, 236–239. Burgener AV, Bantug GR, Meyer BJ, Higgins R, Ghosh A, Bignucolo O, Ma EH, Loeliger J, Unterstab G, Geigges M, et al. (2019). SDHA gain-of-function engages inflammatory mitochondrial retrograde signaling via KEAP1-Nrf2. Nat Immunol 20, 1311–1321. Marquardsen FA, Baldin F, Wunderer F, AlHerz W, Mikhael R, Lefranc G, Baz Z, Rezaee F, Hanna R, Kfir-Erenfeld S, et al. (2017). Detection of Sp110 by Flow Cytometry and Application to Screening Patients for Veno-occlusive Disease with Immunodeficiency. J Clin Immunol 37, 707–714. Group Members
刘建军，刘建军，刘建军，刘建军，刘建军，刘建军，刘建军，刘建军，刘建军，刘建军，刘建军，刘建军，刘建军，张建军，张建军，张建军(2020)。x连锁网状色素紊乱患者的JAK抑制作用[J]。在出版社。Delmonte OM, Baldin F, Ovchinsky N, Marquardsen F, Recher M, Notarangelo LD, Kosinski SM(2020)。新的SP110错义突变与联合免疫缺陷和无VOD的晚期肝病相关。[J]中华临床医学杂志，2004,23(2):444 - 444。Burgener AV, Bantug GR, Meyer BJ, Higgins R, Ghosh A, Bignucolo O, Ma EH, Loeliger J, Unterstab G, Geigges M，等。(2019)。SDHA功能获得通过KEAP1-Nrf2参与炎性线粒体逆行信号。中华生物医学工程学报，21(2):444 - 444。Marquardsen FA, Baldin F, Wunderer F, AlHerz W, Mikhael R, Lefranc G, Baz Z, Rezaee F, Hanna R, Kfir-Erenfeld S等。(2017)。流式细胞术检测Sp110及其在免疫缺陷性静脉闭塞性疾病筛查中的应用中华临床医学杂志，37(2):444 - 444。小组成员
{"title":"Primary Immunodeficiency","authors":"Renfen Chen","doi":"10.5772/intechopen.89624","DOIUrl":"https://doi.org/10.5772/intechopen.89624","url":null,"abstract":"Légeret C, Meyer BJ, Rovina A, Deigendesch N, Berger CT, Daikeler T, Heijnen I, Burstein E, Köhler H and Recher M (2020). JAK inhibition in a patient with X-linked reticulate pigmentary disorder J Clin Immunol. in press. Delmonte OM, Baldin F, Ovchinsky N, Marquardsen F, Recher M, Notarangelo LD, and Kosinski SM (2020). Novel Missense Mutation in SP110 Associated with Combined Immunodeficiency and Advanced Liver Disease Without VOD. J Clin Immunol 40, 236–239. Burgener AV, Bantug GR, Meyer BJ, Higgins R, Ghosh A, Bignucolo O, Ma EH, Loeliger J, Unterstab G, Geigges M, et al. (2019). SDHA gain-of-function engages inflammatory mitochondrial retrograde signaling via KEAP1-Nrf2. Nat Immunol 20, 1311–1321. Marquardsen FA, Baldin F, Wunderer F, AlHerz W, Mikhael R, Lefranc G, Baz Z, Rezaee F, Hanna R, Kfir-Erenfeld S, et al. (2017). Detection of Sp110 by Flow Cytometry and Application to Screening Patients for Veno-occlusive Disease with Immunodeficiency. J Clin Immunol 37, 707–714. Group Members","PeriodicalId":74639,"journal":{"name":"Rare diseases (Austin, Tex.)","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.5772/intechopen.89624","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42598511","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 : 2020-02-06DOI: 10.5772/intechopen.90604
Letícia Antunes Muniz Ferreira
Chronic myelogenous leukemia (CML) is a chronic clonal myeloproliferative disease characterized by left leukocytosis, splenomegaly, and the presence of the Philadelphia (Ph) chromosome, which results from the reciprocal and balanced translocation between the long arms of chromosomes 9q34 and 22q11, generating the hybrid protein BCR-ABL, with increased tyrosine kinase activity. The BCR-ABL protein is present in all patients with CML, and its hyperactivity triggers the release of effectors of cell proliferation and inhibitors of apoptosis, and its activity is responsible for the initial oncogenesis of CML. This chapter will review CML from its discovery, molecular and epigenetic mechanisms of disease progression to current treatments.
{"title":"Chronic Myeloid Leukemia","authors":"Letícia Antunes Muniz Ferreira","doi":"10.5772/intechopen.90604","DOIUrl":"https://doi.org/10.5772/intechopen.90604","url":null,"abstract":"Chronic myelogenous leukemia (CML) is a chronic clonal myeloproliferative disease characterized by left leukocytosis, splenomegaly, and the presence of the Philadelphia (Ph) chromosome, which results from the reciprocal and balanced translocation between the long arms of chromosomes 9q34 and 22q11, generating the hybrid protein BCR-ABL, with increased tyrosine kinase activity. The BCR-ABL protein is present in all patients with CML, and its hyperactivity triggers the release of effectors of cell proliferation and inhibitors of apoptosis, and its activity is responsible for the initial oncogenesis of CML. This chapter will review CML from its discovery, molecular and epigenetic mechanisms of disease progression to current treatments.","PeriodicalId":74639,"journal":{"name":"Rare diseases (Austin, Tex.)","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.5772/intechopen.90604","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41487982","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 : 2020-01-14DOI: 10.5772/intechopen.90938
Zhangyi Wu
Chronic myeloid leukemia (CML) is classified as a hematological malignant rare disease by National Organization for Rare Disease (NORD, USA) based on the esti-mated incidence of 1–2 cases/100,000 per year internationally. CML occurs in all ages but commonly seen in the 45–55 years group. Males are slightly more affected than females. CML is one of the oldest known diseases with new faces and one of the fastest developing diseases with many extraordinary discoveries in human history of conquering the disease. CML possesses at least Nine First findings in leukemia and cancer research and even in human medical histories: the First named as leukemia in 1845, the First of a live case of CML patient diagnosed in 1846, the First used of arsenic in CML treatment in 1865, the First defined as a myeloproliferative disorder in 1951, the First finding of Philadelphia chromosome (Ph chromosome) in 1960, the First finding of chromosome 9 and 22 translocations in 1973, the First identified as a clonal hematological malignancy derived from the stage of pluripotent bone hematopoietic stem cells in 1977, the First finding of the chromosomal fusion gene-BCR-ABL as an oncogene in 1984, and the First designed target therapy of use of tyrosine kinase inhibitor (TKI) in 1998. The footprints of the studies on CML established the milestone histories. Remarkable and fascinating genetic discoveries were made of the mysteries of human diseases, the multiway translocation of Ph chromosome, and the latest issues. The association of the combination of chronic myeloid leukemia and chronic lymphocytic leukemia will be reviewed in this chapter with the aim of increasing the understanding of CML further from laboratory bench to clinical bedside.
{"title":"Milestone Histories and Paradigmatic Genetic Discoveries of Chronic Myeloid Leukemia (CML)","authors":"Zhangyi Wu","doi":"10.5772/intechopen.90938","DOIUrl":"https://doi.org/10.5772/intechopen.90938","url":null,"abstract":"Chronic myeloid leukemia (CML) is classified as a hematological malignant rare disease by National Organization for Rare Disease (NORD, USA) based on the esti-mated incidence of 1–2 cases/100,000 per year internationally. CML occurs in all ages but commonly seen in the 45–55 years group. Males are slightly more affected than females. CML is one of the oldest known diseases with new faces and one of the fastest developing diseases with many extraordinary discoveries in human history of conquering the disease. CML possesses at least Nine First findings in leukemia and cancer research and even in human medical histories: the First named as leukemia in 1845, the First of a live case of CML patient diagnosed in 1846, the First used of arsenic in CML treatment in 1865, the First defined as a myeloproliferative disorder in 1951, the First finding of Philadelphia chromosome (Ph chromosome) in 1960, the First finding of chromosome 9 and 22 translocations in 1973, the First identified as a clonal hematological malignancy derived from the stage of pluripotent bone hematopoietic stem cells in 1977, the First finding of the chromosomal fusion gene-BCR-ABL as an oncogene in 1984, and the First designed target therapy of use of tyrosine kinase inhibitor (TKI) in 1998. The footprints of the studies on CML established the milestone histories. Remarkable and fascinating genetic discoveries were made of the mysteries of human diseases, the multiway translocation of Ph chromosome, and the latest issues. The association of the combination of chronic myeloid leukemia and chronic lymphocytic leukemia will be reviewed in this chapter with the aim of increasing the understanding of CML further from laboratory bench to clinical bedside.","PeriodicalId":74639,"journal":{"name":"Rare diseases (Austin, Tex.)","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-01-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48924784","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 : 2020-01-08DOI: 10.5772/intechopen.90862
Nahla O. Mousa, A. Osman, N. Fahmy, Ahmed Abdellatif, S. Zada, H. El-Fawal
Duchenne muscular dystrophy (DMD) is a fatal X-linked disorder, character-ized by progressive skeletal muscle wasting. The disease is caused by various types of mutations in the dystrophin gene (DMD). The disease occurs at a frequency of about 1 in 5000 male births, making it the most common severe neuro-muscular disease. In addition to clinical examinations of muscle strength and function, diagnosis of DMD usually involves a combination of immunological assays using muscle biopsies, typically immunohistochemistry and western blotting, and molecular techniques such as DMD gene sequencing or Multiplex Ligation Dependent Probe Amplification (MLPA) using blood samples. In fact, precise molecular diagnosis is a prerequisite for determining the appropriate personalized therapeutic approach such as exon-skipping, gene therapy or stem cell-based therapies in conjunction with gene editing techniques like CRISPR-Cas9. However, the quest for reliable biomarkers with high sensitivity and specificity for DMD from liquid biopsy is still a hotspot of research, as such non-invasive biomarker(s) would not only facilitate disease diagnosis but would also help in carrier detection, which will eventually result in better disease management. In this chapter, we will illustrate the detailed current and prospect strategies for disease. protein biomarkers that could be utilized in the diagnosis of Duchenne muscular dystrophy.
{"title":"Duchenne Muscular Dystrophy (DMD) Diagnosis: Past and Present Perspectives","authors":"Nahla O. Mousa, A. Osman, N. Fahmy, Ahmed Abdellatif, S. Zada, H. El-Fawal","doi":"10.5772/intechopen.90862","DOIUrl":"https://doi.org/10.5772/intechopen.90862","url":null,"abstract":"Duchenne muscular dystrophy (DMD) is a fatal X-linked disorder, character-ized by progressive skeletal muscle wasting. The disease is caused by various types of mutations in the dystrophin gene (DMD). The disease occurs at a frequency of about 1 in 5000 male births, making it the most common severe neuro-muscular disease. In addition to clinical examinations of muscle strength and function, diagnosis of DMD usually involves a combination of immunological assays using muscle biopsies, typically immunohistochemistry and western blotting, and molecular techniques such as DMD gene sequencing or Multiplex Ligation Dependent Probe Amplification (MLPA) using blood samples. In fact, precise molecular diagnosis is a prerequisite for determining the appropriate personalized therapeutic approach such as exon-skipping, gene therapy or stem cell-based therapies in conjunction with gene editing techniques like CRISPR-Cas9. However, the quest for reliable biomarkers with high sensitivity and specificity for DMD from liquid biopsy is still a hotspot of research, as such non-invasive biomarker(s) would not only facilitate disease diagnosis but would also help in carrier detection, which will eventually result in better disease management. In this chapter, we will illustrate the detailed current and prospect strategies for disease. protein biomarkers that could be utilized in the diagnosis of Duchenne muscular dystrophy.","PeriodicalId":74639,"journal":{"name":"Rare diseases (Austin, Tex.)","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.5772/intechopen.90862","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43072907","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 : 2019-12-13DOI: 10.5772/intechopen.88630
Yashodhara Bhattacharya, Gayatri Iyer, Aruna Priya Kamireddy, S. Poornima, K. Juturu, Q. Hasan
Rare diseases are those diseases that are not seen frequently in a population. There are about 7000 rare diseases that have been identified worldwide, and 80% of them are caused by genetic changes. Since a small number of individuals are affected with rare diseases, most clinicians are not aware of such diseases, and thus, they remain undiagnosed and untreated. Awareness regarding such diseases is essential to train clinicians to diagnose individuals affected with these disorders and to develop National/International Registries, which will serve to give information about the disease prevalence, its natural course, treatment, and management options available, to the medical fraternity. Patient advocacy groups play a remarkable and unique role in forming the collective voice of individuals living with rare diseases. They help in the identification, diagnosis, management, treatment, and prevention of such diseases. Advocacy Groups form collaborative partnerships with scientists studying such rare diseases, clinicians managing these diseases, pharmaceutical companies developing drugs, and Government officials overseeing and policy makers implementing medical regulatory processes. Thus, advocacy groups play a key role in helping patients and families with rare diseases.
{"title":"Rare Disease Advocacy Groups and Their Significance in Diagnosis, Management, Treatment, and Prevention of Rare Diseases","authors":"Yashodhara Bhattacharya, Gayatri Iyer, Aruna Priya Kamireddy, S. Poornima, K. Juturu, Q. Hasan","doi":"10.5772/intechopen.88630","DOIUrl":"https://doi.org/10.5772/intechopen.88630","url":null,"abstract":"Rare diseases are those diseases that are not seen frequently in a population. There are about 7000 rare diseases that have been identified worldwide, and 80% of them are caused by genetic changes. Since a small number of individuals are affected with rare diseases, most clinicians are not aware of such diseases, and thus, they remain undiagnosed and untreated. Awareness regarding such diseases is essential to train clinicians to diagnose individuals affected with these disorders and to develop National/International Registries, which will serve to give information about the disease prevalence, its natural course, treatment, and management options available, to the medical fraternity. Patient advocacy groups play a remarkable and unique role in forming the collective voice of individuals living with rare diseases. They help in the identification, diagnosis, management, treatment, and prevention of such diseases. Advocacy Groups form collaborative partnerships with scientists studying such rare diseases, clinicians managing these diseases, pharmaceutical companies developing drugs, and Government officials overseeing and policy makers implementing medical regulatory processes. Thus, advocacy groups play a key role in helping patients and families with rare diseases.","PeriodicalId":74639,"journal":{"name":"Rare diseases (Austin, Tex.)","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-12-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.5772/intechopen.88630","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48590563","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 : 2019-11-05DOI: 10.5772/INTECHOPEN.87248
C. Ungaro, T. Sprovieri
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited cerebrovascular disease whose key features are recurrent transient ischemic attacks (TIA), strokes, migraine with aura, vascular dementia, and diffuse white matter abnormalities detectable through neuroimaging. The disease results from mutations in the NOTCH3 gene, encoding a transmembrane receptor involved in cellular signaling and fate during embryonic development. Genetic testing is the gold standard for diagnosing this condition, but the syndrome can be suspected clinically based on family history and characteristic findings of white matter changes. Nevertheless, different individual symptom types, onset, and disease severity, even among individuals in the same family, have been increasingly recognized. The molecular mechanisms by which NOTCH3 mutations lead to vascular degeneration remain unclear. Most CADASIL-associated mutations result in either a gain or loss of cysteine residue in one of the 34 EGF-like repeats in the extracellular domain of the Notch3 protein, thus sparing the number of cysteine residues. More than 200 different mutations in the NOTCH3 gene have been reported in CADASIL patients, of which 95% are missense point mutations. Although it has been suggested that some mutations may be associated with a milder or more severe phenotype, so far no clear genotype-phenotype correlation has been found. To date, no disease-modifying treatment is available for this condition.
{"title":"Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)","authors":"C. Ungaro, T. Sprovieri","doi":"10.5772/INTECHOPEN.87248","DOIUrl":"https://doi.org/10.5772/INTECHOPEN.87248","url":null,"abstract":"Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited cerebrovascular disease whose key features are recurrent transient ischemic attacks (TIA), strokes, migraine with aura, vascular dementia, and diffuse white matter abnormalities detectable through neuroimaging. The disease results from mutations in the NOTCH3 gene, encoding a transmembrane receptor involved in cellular signaling and fate during embryonic development. Genetic testing is the gold standard for diagnosing this condition, but the syndrome can be suspected clinically based on family history and characteristic findings of white matter changes. Nevertheless, different individual symptom types, onset, and disease severity, even among individuals in the same family, have been increasingly recognized. The molecular mechanisms by which NOTCH3 mutations lead to vascular degeneration remain unclear. Most CADASIL-associated mutations result in either a gain or loss of cysteine residue in one of the 34 EGF-like repeats in the extracellular domain of the Notch3 protein, thus sparing the number of cysteine residues. More than 200 different mutations in the NOTCH3 gene have been reported in CADASIL patients, of which 95% are missense point mutations. Although it has been suggested that some mutations may be associated with a milder or more severe phenotype, so far no clear genotype-phenotype correlation has been found. To date, no disease-modifying treatment is available for this condition.","PeriodicalId":74639,"journal":{"name":"Rare diseases (Austin, Tex.)","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.5772/INTECHOPEN.87248","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44518313","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 : 2019-10-29DOI: 10.5772/intechopen.89845
E. Hanušovská, S. Šufliarska
Allogeneic haematopoietic stem cell transplantation (allo-hSCT) is one of the most important therapeutic options for patients with both malignant and non-malignant life-threatening rare disorders. Assessment of chimerism following allo-hSCT has been established as an indispensable tool for the clinical management of transplant recipients. The number of allo-hSCT among CML patients is decreasing due to tyrosine-kinase-inhibitor treatment. However, allo-hSCT in adult and paediatric patients with AML, ALL, and different non-malignant diseases is still increasing. For sex-independent patient chimerism monitoring, PCR-based short tandem repeat (PCR-STR) DNA markers with subsequent fragment analysis (‘FA’) and SYBR Green-based real-time PCR (SNPs or NPs markers of DNA) (‘RQ PCR’) were used. Specific features of chimerism assessment in non-malignant (n = 74) and malignant (n = 169) diseases were monitored by ‘FA’. Complete and mixed chimerism was monitored also by SYBR Green-based real-time PCR method (‘RQ PCR’) (n = 188). By comparing the results of two chimerism monitoring methods (‘FA’ and ‘RQ PCR’) (n = 65), the higher sensitivity for the detection of the autologous DNA markers was observed by ‘RQ PCR’ (<1%) than ‘FA’ (1–5%). The lower detection limit of mixed chimerism could reveal an eventual relapse earlier. But the quantification of donor’s DNA markers is more precise estimated by the FA.
{"title":"Monitoring of Chimerism in Rare Haematological Malignant Diseases after Allogeneic Haematopoietic Stem Cell Transplantation","authors":"E. Hanušovská, S. Šufliarska","doi":"10.5772/intechopen.89845","DOIUrl":"https://doi.org/10.5772/intechopen.89845","url":null,"abstract":"Allogeneic haematopoietic stem cell transplantation (allo-hSCT) is one of the most important therapeutic options for patients with both malignant and non-malignant life-threatening rare disorders. Assessment of chimerism following allo-hSCT has been established as an indispensable tool for the clinical management of transplant recipients. The number of allo-hSCT among CML patients is decreasing due to tyrosine-kinase-inhibitor treatment. However, allo-hSCT in adult and paediatric patients with AML, ALL, and different non-malignant diseases is still increasing. For sex-independent patient chimerism monitoring, PCR-based short tandem repeat (PCR-STR) DNA markers with subsequent fragment analysis (‘FA’) and SYBR Green-based real-time PCR (SNPs or NPs markers of DNA) (‘RQ PCR’) were used. Specific features of chimerism assessment in non-malignant (n = 74) and malignant (n = 169) diseases were monitored by ‘FA’. Complete and mixed chimerism was monitored also by SYBR Green-based real-time PCR method (‘RQ PCR’) (n = 188). By comparing the results of two chimerism monitoring methods (‘FA’ and ‘RQ PCR’) (n = 65), the higher sensitivity for the detection of the autologous DNA markers was observed by ‘RQ PCR’ (<1%) than ‘FA’ (1–5%). The lower detection limit of mixed chimerism could reveal an eventual relapse earlier. But the quantification of donor’s DNA markers is more precise estimated by the FA.","PeriodicalId":74639,"journal":{"name":"Rare diseases (Austin, Tex.)","volume":"9 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.5772/intechopen.89845","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41270288","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 : 2019-10-22DOI: 10.5772/intechopen.86986
J. Vives-Corrons
Anaemia is a common worldwide disorder mainly due to iron or vitamins deficiency. However, among the rare diseases (RD), there is a group associated with anaemia as main clinical manifestation or rare anaemias (RA). RA are mostly hereditary, and since they are little known, even for professionals, they remain undiagnosed, or misdiagnosed, for very long periods of time. This creates in patients, or, in their parents (if they are children) a permanent situation of stress due to the absence of a diagnosis, the impossibility to predict the course of the disease, and to the impossibility to perform, genetic counselling for future pregnancies. About 83 different RA have been described and their mechanism is in general a bone marrow or a red blood cell (RBC) defect. The most well-known RA are Fanconi anaemia, the thalassemia syndromes, sickle cell disease, hereditary haemolytic anaemias and paroxysmal nocturnal haemoglobinuria (PNH). The main objective of this chapter is to offer a review of the state of the art of RA knowledge and a way to facilitate their identification and final diagnosis through clinical manifestations and laboratory diagnostic tests.
{"title":"The Rare Anaemias","authors":"J. Vives-Corrons","doi":"10.5772/intechopen.86986","DOIUrl":"https://doi.org/10.5772/intechopen.86986","url":null,"abstract":"Anaemia is a common worldwide disorder mainly due to iron or vitamins deficiency. However, among the rare diseases (RD), there is a group associated with anaemia as main clinical manifestation or rare anaemias (RA). RA are mostly hereditary, and since they are little known, even for professionals, they remain undiagnosed, or misdiagnosed, for very long periods of time. This creates in patients, or, in their parents (if they are children) a permanent situation of stress due to the absence of a diagnosis, the impossibility to predict the course of the disease, and to the impossibility to perform, genetic counselling for future pregnancies. About 83 different RA have been described and their mechanism is in general a bone marrow or a red blood cell (RBC) defect. The most well-known RA are Fanconi anaemia, the thalassemia syndromes, sickle cell disease, hereditary haemolytic anaemias and paroxysmal nocturnal haemoglobinuria (PNH). The main objective of this chapter is to offer a review of the state of the art of RA knowledge and a way to facilitate their identification and final diagnosis through clinical manifestations and laboratory diagnostic tests.","PeriodicalId":74639,"journal":{"name":"Rare diseases (Austin, Tex.)","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.5772/intechopen.86986","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41609267","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 : 2019-08-23DOI: 10.5772/INTECHOPEN.88667
L. Chung, Yanfei Qi
Lipodystrophy is a rare lipid storage disorder that is characterized by a loss of adipose tissue. It can be inherited due to monogenic mutation or acquired by medi-cation and autoimmune illness. Two primary forms of inherited lipodystrophy are congenital generalized lipodystrophy manifested as a near-complete loss of fat tissue since birth and familial partial lipodystrophy with progressive, partial loss of fat tissue during late childhood and puberty. Lipodystrophy results in severe metabolic conditions, including insulin resistance, type 2 diabetes, hepatosteatosis, polycystic ovary syndrome, acanthosis nigricans, and hypertension. This chapter summarizes the symptoms, causes, and treatments of inherited and acquired lipodystrophy.
{"title":"Lipodystrophy - A Rare Condition with Serious Metabolic Abnormalities","authors":"L. Chung, Yanfei Qi","doi":"10.5772/INTECHOPEN.88667","DOIUrl":"https://doi.org/10.5772/INTECHOPEN.88667","url":null,"abstract":"Lipodystrophy is a rare lipid storage disorder that is characterized by a loss of adipose tissue. It can be inherited due to monogenic mutation or acquired by medi-cation and autoimmune illness. Two primary forms of inherited lipodystrophy are congenital generalized lipodystrophy manifested as a near-complete loss of fat tissue since birth and familial partial lipodystrophy with progressive, partial loss of fat tissue during late childhood and puberty. Lipodystrophy results in severe metabolic conditions, including insulin resistance, type 2 diabetes, hepatosteatosis, polycystic ovary syndrome, acanthosis nigricans, and hypertension. This chapter summarizes the symptoms, causes, and treatments of inherited and acquired lipodystrophy.","PeriodicalId":74639,"journal":{"name":"Rare diseases (Austin, Tex.)","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.5772/INTECHOPEN.88667","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43810712","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 : 2019-08-21DOI: 10.5772/INTECHOPEN.88155
B. Gyawali
Paediatric airway compared to the adult has a considerable anatomical and physiological difference. Airway pathologies in neonates are very challenging in terms of diagnosis and management. Bilateral abductor paralysis is one of such situations. Despite being the second most common cause of stridor in paediatric population, the disease is still rare. Having a huge range of aetiological variations on one hand and the grievousness of pathology on the other, management of the disease is very challenging at times. Here, we present a review on various aetiological factors along with management of the disease.
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