Rare diseases (Austin, Tex.)最新文献

Primary Immunodeficiency 原发性免疫缺陷

Rare diseases (Austin, Tex.) Pub Date : 2020-03-25 DOI: 10.5772/intechopen.89624

Renfen Chen

引用次数: 0

Chronic Myeloid Leukemia 慢性髓性白血病

Rare diseases (Austin, Tex.) Pub Date : 2020-02-06 DOI: 10.5772/intechopen.90604

Letícia Antunes Muniz Ferreira

引用次数: 1

Milestone Histories and Paradigmatic Genetic Discoveries of Chronic Myeloid Leukemia (CML) 慢性粒细胞白血病（CML）的里程碑历史和典型遗传学发现

Rare diseases (Austin, Tex.) Pub Date : 2020-01-14 DOI: 10.5772/intechopen.90938

Zhangyi Wu

{"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}

引用次数: 0

Duchenne Muscular Dystrophy (DMD) Diagnosis: Past and Present Perspectives 杜氏肌营养不良症(DMD)的诊断:过去和现在的观点

Rare diseases (Austin, Tex.) Pub Date : 2020-01-08 DOI: 10.5772/intechopen.90862

Nahla O. Mousa, A. Osman, N. Fahmy, Ahmed Abdellatif, S. Zada, H. El-Fawal

{"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}

引用次数: 0

Rare Disease Advocacy Groups and Their Significance in Diagnosis, Management, Treatment, and Prevention of Rare Diseases 罕见病倡导团体及其在罕见病诊断、管理、治疗和预防中的意义

Rare diseases (Austin, Tex.) Pub Date : 2019-12-13 DOI: 10.5772/intechopen.88630

Yashodhara Bhattacharya, Gayatri Iyer, Aruna Priya Kamireddy, S. Poornima, K. Juturu, Q. Hasan

{"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}

引用次数: 3

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) 伴有皮质下梗死和白质脑病的脑常染色体显性动脉病变（CADASIL）

Rare diseases (Austin, Tex.) Pub Date : 2019-11-05 DOI: 10.5772/INTECHOPEN.87248

C. Ungaro, T. Sprovieri

{"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}

引用次数: 5

Monitoring of Chimerism in Rare Haematological Malignant Diseases after Allogeneic Haematopoietic Stem Cell Transplantation 异基因造血干细胞移植后罕见血液恶性疾病嵌合体的监测

Rare diseases (Austin, Tex.) Pub Date : 2019-10-29 DOI: 10.5772/intechopen.89845

E. Hanušovská, S. Šufliarska

{"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}

引用次数: 0

The Rare Anaemias 罕见贫血症

Rare diseases (Austin, Tex.) Pub Date : 2019-10-22 DOI: 10.5772/intechopen.86986

J. Vives-Corrons

引用次数: 4

Lipodystrophy - A Rare Condition with Serious Metabolic Abnormalities 脂肪营养不良-一种罕见的情况与严重的代谢异常

Rare diseases (Austin, Tex.) Pub Date : 2019-08-23 DOI: 10.5772/INTECHOPEN.88667

L. Chung, Yanfei Qi

引用次数: 1

Bilateral Abductor Palsy in Neonates 新生儿双侧外展肌麻痹

Rare diseases (Austin, Tex.) Pub Date : 2019-08-21 DOI: 10.5772/INTECHOPEN.88155

B. Gyawali

引用次数: 0