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1.
BMC Med Genomics ; 16(1): 193, 2023 08 21.
Artículo en Inglés | MEDLINE | ID: mdl-37605172

RESUMEN

BACKGROUND: Genodermatoses are a broad group of disorders with specific or non-specific skin-based phenotypes, most of which are monogenic disorders. However, it's a great challenge to make a precise molecular diagnosis because of the clinical heterogeneity. The genetic and clinical heterogeneity brings great challenges for diagnosis in dermatology. The whole exome sequencing (WES) not only expedites the discovery of the genetic variations, but also contributes to genetic counselling and prenatal diagnosis. MATERIALS AND METHODS: Followed by the initial clinical and pathological diagnosis, genetic variations were identified by WES. The pathogenicity of the copy number variations (CNVs) and single-nucleotide variants (SNVs) were evaluated according to ACMG guidelines. Candidate pathogenic SNVs were confirmed by Sanger sequencing in the proband and the family members. RESULTS: Totally 25 cases were recruited. Nine novel variations, including c.5546G > C and c.1457delC in NF1, c.6110G > T in COL7A1, c.2127delG in TSC1, c.1445 C > A and c.1265G > A in TYR, Xp22.31 deletion in STS, c.908 C > T in ATP2A2, c.1371insC in IKBKG, and nine known ones were identified in 16 cases (64%). Prenatal diagnosis was applied in 6 pregnant women by amniocentesis, two of whom carried positive findings. CONCLUSIONS: Our findings highlighted the value of WES as a first-tier genetic test in determining the molecular diagnosis. We also discovered the distribution of genodermatoses in this district, which provided a novel clinical dataset for dermatologists.


Asunto(s)
Variaciones en el Número de Copia de ADN , Enfermedades de la Piel , Femenino , Humanos , Embarazo , Secuenciación del Exoma , Enfermedades de la Piel/diagnóstico , Enfermedades de la Piel/genética , Piel , Diagnóstico Prenatal , Quinasa I-kappa B , Colágeno Tipo VII
2.
J Tradit Chin Med ; 43(2): 379-385, 2023 04.
Artículo en Inglés | MEDLINE | ID: mdl-36994528

RESUMEN

In China, 50% of Knee Osteoarthritis (KOA) patients will be treated with Traditional Chinese Medicine or a combination of Traditional Chinese and Western Medicine, which call for objective efficacy evaluation methods. The collection, processing and fusion of multi-source data were taken as the main methods, with 150 KOA patients and 100 healthy people as an example to design prospective clinical tests. Data were collected with tongue inspection APP, infrared instrument and channel instrument, etc. And the analysis, screening, fusion and modelling of multi-source data were conducted. The traditional clinical tests have been combined with the customized information platform in this study, which is convenient for clinical tests, medical follow-ups and timely feedback to statistical analysis of data.


Asunto(s)
Osteoartritis de la Rodilla , Humanos , Osteoartritis de la Rodilla/terapia , Estudios Prospectivos , Medicina Tradicional China , Proyectos de Investigación , China , Resultado del Tratamiento
3.
Stem Cell Rev Rep ; 18(8): 2646-2661, 2022 12.
Artículo en Inglés | MEDLINE | ID: mdl-35778654

RESUMEN

Mutations of NKX2-5 largely contribute to congenital heart diseases (CHDs), especially atrial septal defect (ASD). We identified a novel heterozygous splicing mutation c.335-1G > A in NKX2-5 gene in an ASD family via whole exome sequencing (WES) and linkage analysis. Utilizing the human induced pluripotent stem cell (hiPSC)-derived cardiomyocytes (hiPSC-CMs) as a disease model, we showed that haploinsufficiency of NKX2-5 contributed to aberrant orchestration of apoptosis and proliferation in ASD patient-derived hiPSC-CMs. RNA-seq profiling and dual-luciferase reporter assay revealed that NKX2-5 acts upstream of PYK2 via miR-19a and miR-19b (miR-19a/b) to regulate cardiomyocyte apoptosis. Meanwhile, miR-19a/b are also downstream mediators of NKX2-5 during cardiomyocyte proliferation. The novel splicing mutation c.335-1G > A in NKX2-5 and its potential pathogenic roles in ASD were demonstrated. Our work provides clues not only for deep understanding of NKX2-5 in cardia development, but also for better knowledge in the molecular mechanisms of CHDs.


Asunto(s)
Defectos del Tabique Interatrial , Células Madre Pluripotentes Inducidas , MicroARNs , Humanos , Factores de Transcripción/genética , Proteína Homeótica Nkx-2.5/genética , Quinasa 2 de Adhesión Focal/genética , Proteínas de Homeodominio/genética , Defectos del Tabique Interatrial/genética , Mutación/genética , MicroARNs/genética
4.
Transl Neurosci ; 7(1): 92-97, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-28123828

RESUMEN

OBJECTIVE: A possible relationship between fibrosis along the route of cerebrospinal fluid (CSF) flow and the subsequent development of hydrocephalus has been indicated in previous studies. These changes in the fibrosis index may reflect the severity of hydrocephalus and could potentially become a diagnostic tool. The object of this study was to analyze the levels of procollagen type I C-terminal propeptide (PICP), procollagen type III N-terminal propeptide (PIIINP), hyaluronic acid (HA), and laminin (LN) in the CSF of patients with post-traumatic hydrocephalus and determine the significance of their presence. SUBJECTS AND METHODS: Forty-four patients were included in the study: 24 patients with shunt-dependent post-traumatic hydrocephalus (group A - hydrocephalus group); ten brain trauma patients without any sign of hydrocephalus (group B - trauma group); ten patients without brain trauma and hydrocephalus (group C - normal control group). CSF levels of PICP, PIIINP, HA, LN and transforming growth factor-ß1(TGF-ß1) were detected using enzyme-linked immunosorbent assay (ELISA). RESULTS: Levels of PICP, PIIINP, HA, and LN in the group of hydrocephalus patients were significantly higher than those in the post-trauma patients without hydrocephalus (p < 0.05) and normal control patients (p < 0.05). Moreover, the increased levels of PICP, PIIINP, HA, and LN were positively correlated with the level of TGF-ß1 (p < 0.05). CONCLUSION: We demonstrated an increase of fibrosis factors including PICP, PIIINP, HA, and LN, that was positively correlated with TGF-ß1 levels. This indicates an important role for the process of fibrosis in the development of post-traumatic chronic hydrocephalus and shows the potential utility of PICP, PIIINP, HA, and LN as a diagnostic index in shunt-dependent post-traumatic chronic hydrocephalus.

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