RESUMEN
BACKGROUND: 18F-fluorodeoxyglucose (18F-FDG) positron-emission tomography/computed tomography (PET/CT) as an imaging modality for the whole body has shown its value in detecting incidental colorectal adenoma. In clinical practice, adenomatous polyps can be divided into three groups: low-grade intraepithelial neoplasia (LGIN), high-grade intraepithelial neoplasia (HGIN) and cancer, which can lead to different clinical management. However, the relationship between the
Asunto(s)
Adenoma , Neoplasias Colorrectales , Fluorodesoxiglucosa F18 , Hallazgos Incidentales , Clasificación del Tumor , Tomografía Computarizada por Tomografía de Emisión de Positrones , Humanos , Masculino , Neoplasias Colorrectales/diagnóstico por imagen , Neoplasias Colorrectales/patología , Femenino , Persona de Mediana Edad , Anciano , Adenoma/diagnóstico por imagen , Adenoma/patología , Estudios Retrospectivos , Adulto , Anciano de 80 o más Años , Valor Predictivo de las PruebasRESUMEN
Fabry disease, a lysosomal storage disease, is an uncommon X-linked recessive genetic disorder stemming from abnormalities in the alpha-galactosidase gene (GLA) that codes human alpha-Galactosidase A (α-Gal A). To date, over 800 GLA mutations have been found to cause Fabry disease (FD). Continued enhancement of the GLA mutation spectrum will contribute to a deeper recognition and underlying mechanisms of FD. In this study, a 27-year-old male proband exhibited a typical phenotype of Fabry disease. Subsequently, family screening for Fabry disease was conducted, and high-throughput sequencing was employed to identify the mutated gene. The three-level structure of the mutated protein was analyzed, and its subcellular localization and enzymatic activity were determined. Apoptosis was assessed in GLA mutant cell lines to confirm the functional effects. As a result, a new mutation, c.777_778del (p. Gly261Leufs*3), in the GLA gene was identified. The mutation caused a frameshift during translation and the premature appearance of a termination codon, which led to a partial deletion of the domain in C-terminal region and altered the protein's tertiary structure. In vitro experiments revealed a significant reduction of the enzymatic activity in mutant cells. The expression was noticeably decreased at the mRNA and protein levels in mutant cell lines. Additionally, the subcellular localization of α-Gal A changed from a homogeneous distribution to punctate aggregation in the cytoplasm. GLA mutant cells exhibited significantly higher levels of apoptosis compared to wild-type cells.
Asunto(s)
Codón sin Sentido , Enfermedad de Fabry , Linaje , alfa-Galactosidasa , Humanos , Enfermedad de Fabry/genética , Enfermedad de Fabry/diagnóstico , alfa-Galactosidasa/genética , alfa-Galactosidasa/metabolismo , Masculino , Adulto , China , Pueblo Asiatico/genética , Apoptosis/genética , Pueblos del Este de AsiaRESUMEN
Enterocytozoon bieneusi is a widely distributed human and animal pathogen. However, few data are available on the distribution of E. bieneusi genotypes in racehorses. In this study, 621 fecal specimens were collected from racehorses at 17 equestrian clubs in 15 Chinese cities. E. bieneusi was detected via nested polymerase chain reaction (PCR) amplification of the internal transcribed spacer (ITS) gene. The overall infection rate of E. bieneusi was 4.8% (30/621). Statistically significant differences were found in the prevalence of this parasite among the equestrian clubs (χ2 = 78.464, df = 16, p < 0.01) and age groups (χ2 = 23.686, df = 1, p < 0.01), but no sex bias was found among the racehorses for the E. bieneusi infections (χ2 = 1.407, df = 2, p > 0.05). Ten E. bieneusi genotypes were identified, including seven known genotypes (EbpC, EbpA, Peru6, horse1, horse2, CAF1, and TypeIV) and three novel genotypes (HBH-1, SXH-1, and BJH-1). Phylogenetic analysis showed that EbpC, EbpA, Peru6, horse2, CAF1, TypeIV, BJH-1, and SXH-1 belonged to Group 1 of E. bieneusi, HBH-1 belonged to Group 2, and horse2 belonged to Group 6. Our findings advance the current knowledge of E. bieneusi prevalence and genotypes in racehorses in China.
RESUMEN
Hereditary equine regional dermal asthenia (HERDA) is an autosomal recessive inheritable disorder described in the Quarter Horses and related breeds. In this case report, a 2-year-old Quarter Horse filly was diagnosed with HERDA based on clinical findings and genetic testing. The observed clinical signs were stretchy, loose and thin skin, and open wounds on the upper body. Skin biopsy results were consistent with the common findings previously described in the literature. This is the first HERDA case report in China (and in Asia). Genetic testing protocols should be implemented for breeding farms to prevent the disease.