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1.
Transfusion ; 60(9): 2038-2046, 2020 09.
Artículo en Inglés | MEDLINE | ID: mdl-32666556

RESUMEN

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) RNA could be detected in the blood of infected cases. From February 9, all blood establishments in Hubei province, China, implemented nucleic acid testing (NAT) for SARS-CoV-2 RNA among blood donors to ensure blood safety. STUDY DESIGN AND METHODS: Nucleic acid test screening individually (ID) or by minipool (MP) testing was performed according to the manufacturer's instructions. Inactivated culture supernatant of SARS-CoV-2-infected Vero cells was quantified by droplet digital polymerase chain reaction (ddPCR) and series diluted with negative plasma to evaluate the assay's performance. RESULTS: The limit of detection of the kit for MP testing was 62.94 and 33.14 copies/mL for N and ORF1ab region, respectively. ID testing could achieve 3.87 and 4.85 copies/mL for two regions using 1600 µL of plasma. Coefficients of variations of two different concentrations of reference samples were all less than 5% in MP testing. As of April 30, 2020, a total of 98,342 blood donations including 87,095 whole blood donations and 11,247 platelet donations were tested by ID or MP testing, and no RNAemia was found. In addition, Hubei province suffered precipitously decreased blood supply, especially in February: 86% reduction compared with the same period of 2019. CONCLUSION: Nucleic acid test screening of SARS-CoV-2 on blood donations is suitable in blood establishments using the commercial real-time PCR detection kit based on available instruments. The negative result indicated that SARS-CoV-2 appears to be no direct threat to blood safety but raises some serious issues for general blood supply.


Asunto(s)
Donantes de Sangre , Prueba de Ácido Nucleico para COVID-19 , COVID-19/epidemiología , ARN Viral/sangre , SARS-CoV-2/aislamiento & purificación , Viremia/diagnóstico , Animales , Bancos de Sangre , Donantes de Sangre/provisión & distribución , COVID-19/diagnóstico , China/epidemiología , Chlorocebus aethiops , Humanos , Límite de Detección , ARN Viral/aislamiento & purificación , Reacción en Cadena en Tiempo Real de la Polimerasa/métodos , SARS-CoV-2/fisiología , Células Vero , Carga Viral , Cultivo de Virus
2.
J Genet ; 1012022.
Artículo en Inglés | MEDLINE | ID: mdl-36156508

RESUMEN

Jacobsen syndrome (JS) is caused by the terminal deletion at the long arm of chromosome 11. It is characterized by growth retardation, intellectual disability, facial dysmorphism, and other congenital abnormalities. The subband 11q24.1 has been confirmed to be the critical region for the typical features of JS. The patient in the current study is a 2-year-old male child with prominent craniofacial abnormalities and congenital heart disease. High-resolution single-nucleotide polymorphism arrays revealed breakage in chromosome 11q beginning at 11q24.2, with complete deletion of the distal portion. We collected all available reports describing patients with breakages at 11q24.1 or 11q24.2, and compared it with the typical features of JS. We found that the phenotype of cleft lip and palate (CLP) was present in both groups of patients with no overlap region in the deletion region (between 11q21-q23 and 11q24.2-qter), which indicated that other genes may be related to CLP in JS.


Asunto(s)
Labio Leporino , Fisura del Paladar , Síndrome de Deleción Distal 11q de Jacobsen , Humanos , Masculino , Deleción Cromosómica , Labio Leporino/genética , Fisura del Paladar/genética , Síndrome de Deleción Distal 11q de Jacobsen/genética , Polimorfismo de Nucleótido Simple
3.
Front Pediatr ; 9: 751163, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34660497

RESUMEN

Sinus of Valsalva aneurysm (SVA) is a rare cardiac anomaly that can undergo spontaneous rupture into other cardiac chambers or the pericardial space. A ruptured SVA has a very poor prognosis with high morbidity and mortality. These aneurysms often present as a rupture from the right coronary sinus into the right ventricle. Transcatheter closure has become an effective alternative to surgical treatment. However, it has been rarely reported in patients after ventricular defect repair in the past. We here describe a 3-year-and-3-month-old boy who was found to have a ruptured sinus of Valsalva. He underwent surgical closure of a ventricular septal defect at the age of 2 months, which occurred in the non-coronary sinus (NCS) and ruptured into the right atrium. We successfully occluded the ruptured sinus of Valsalva with a ventricular septal occluder.

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