RESUMO
The impairment of islets β cell by autoimmune response is an important cause of type 1 diabetes mellitus (T1DM). Some monogenic autoimmune syndromes could induce T1DM in difference chance, which are important disease models to deeply understand autoimmunity and T1DM. This article reviews the diagnosis, treatment and genetic detection of eight known single gene autoimmune syndromes associated with T1DM, arming to expand the diagnosis and treatment of T1DM.
RESUMO
Objective@#To investigate the clinical application value of single nucleotide polymorphism (SNP) haplotype analysis in the preimplantation genetic diagnosis (PGD) of monogenic diseases. @*Methods@#The whole genome amplification products of biopsied trophectoderm cells were analyzed by SNP haplotype analysis and verified by Sanger sequencing. @*Results@#A total of 205 embryos were performed SNP haplotype analysis and Sanger sequencing. Among them, Sanger sequencing failed in 14.63% (30/205) of embryos, and SNP haplotype analysis failed in 0.98% (2/205) of embryos. The failure rate of the latter was significantly lower than that of the former (P＜0.05). There were consistent results in 155 (75.61%) embryos, and inconsistent results in 18 (8.78%) embryos. Forty-five embryos in 41 cycles were performed embryo transplantation. The clinical pregnancy rate was 70.73% (29/41) and the implantation rate was 71.11% (32/45). The results of prenatal diagnosis of amniotic fluid during the second trimester of pregnancy were completely consistent with those of SNP haplotype analysis. @*Conclusion@#SNP haplotype analysis is accurate, and its failure rate is lower than that of Sanger sequencing. It can be effectively used in the PGD of clinical monogenic diseases.
RESUMO
Rare diseases, although individually rare, affect approximately 6%-8% of the total population with more than 6000 diseases identified. The significance of and unmet need in rare diseases for both patients and society are high. Development of new treatments for rare diseases is associated with significant challenges such as low market potential for innovative pharmaceutical companies, often unclear regulatory path, lack of validated clinical endpoints and patient reported outcomes and insufficient data regarding the disease. Special incentivizing strategies such as market exclusivity, waiver or reduction of regulatory submission fees and assistance in clinical trial protocol development and tax incentives have been implemented to enhance drug development in rare and neglected diseases. The ultimate goal of these strategies is to help patients receive adequate treatments irrespective of the epidemiology of their disease. Furthermore, rare diseases, often with a well-defined pathogenesis, represent a unique opportunity for drug discovery in a given homogeneous disease with subsequent indication expansions. Although the number of rare disease treatments that became available for patients has increased, the unmet medical need is still high in this special population.
RESUMO
Se describe el caso clínico de una adolescente de 18 años de edad, con 20,1 semanas de gestación, quien fue remitida por primera vez en 2009 al Centro Provincial de Genética, fecha en la que ya estaba casada con su pareja actual. A partir de ahí se sucedieron una serie de eventos obstétricos desfavorables y, finalmente, teniendo en cuenta los hallazgos ecográficos y la recurrencia de estos en la misma paciente se comprobó que ella y su esposo eran portadores de la mutación que produce el síndrome de Meckel - Gruber.
Abstract The case report of an 18 years adolescent with 20.1 weeks of gravidity is described who was referred for the first time in 2009 to the Genetics Provincial Center, when she was already married with her current couple. Since that time on, a series of unfavorable obstetric events appeared and, finally, taking into account the echographic findings and its recurrence in the same patient, it was proven that she and her husband were carriers of the mutation that produces the Meckel - Gruber syndrome.