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1.
Sensors (Basel) ; 22(12)2022 Jun 07.
Artigo em Inglês | MEDLINE | ID: mdl-35746105

RESUMO

We developed a path-planning system for radiation source identification devices using 4π gamma imaging. The estimated source location and activity were calculated by an integrated simulation model by using 4π gamma images at multiple measurement positions. Using these calculated values, a prediction model to estimate the probability of identification at the next measurement position was created by via random forest analysis. The path-planning system based on the prediction model was verified by integrated simulation and experiment for a 137Cs point source. The results showed that 137Cs point sources were identified using the few measurement positions suggested by the path-planning system.


Assuntos
Diagnóstico por Imagem , Planejamento da Radioterapia Assistida por Computador , Radioisótopos , Dosagem Radioterapêutica , Planejamento da Radioterapia Assistida por Computador/métodos
2.
J Med Genet ; 58(8): 505-513, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-32732225

RESUMO

BACKGROUND: Variants in the type IV collagen gene (COL4A1/2) cause early-onset cerebrovascular diseases. Most individuals are diagnosed postnatally, and the prenatal features of individuals with COL4A1/2 variants remain unclear. METHODS: We examined COL4A1/2 in 218 individuals with suspected COL4A1/2-related brain defects. Among those arising from COL4A1/2 variants, we focused on individuals showing prenatal abnormal ultrasound findings and validated their prenatal and postnatal clinical features in detail. RESULTS: Pathogenic COL4A1/2 variants were detected in 56 individuals (n=56/218, 25.7%) showing porencephaly (n=29), schizencephaly (n=12) and others (n=15). Thirty-four variants occurred de novo (n=34/56, 60.7%). Foetal information was available in 47 of 56 individuals, 32 of whom (n=32/47, 68.1%) had one or more foetal abnormalities. The median gestational age at the detection of initial prenatal abnormal features was 31 weeks of gestation. Only 14 individuals had specific prenatal findings that were strongly suggestive of features associated with COL4A1/2 variants. Foetal ventriculomegaly was the most common initial feature (n=20/32, 62.5%). Posterior fossa abnormalities, including Dandy-Walker malformation, were observed prenatally in four individuals. Regarding extrabrain features, foetal growth restriction was present in 16 individuals, including eight individuals with comorbid ventriculomegaly. CONCLUSIONS: Prenatal observation of ventriculomegaly with comorbid foetal growth restriction should prompt a thorough ultrasound examination and COL4A1/2 gene testing should be considered when pathogenic variants are strongly suspected.


Assuntos
Colágeno Tipo IV/genética , Mutação/genética , Síndrome de Dandy-Walker/genética , Feminino , Humanos , Masculino , Gravidez , Ultrassonografia Pré-Natal/métodos
3.
Pediatr Int ; 54(6): 923-6, 2012 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-23279022

RESUMO

The case is described herein of a patient with alveolar capillary dysplasia with double-outlet right ventricle and duodenal atresia who survived for a remarkably long time. The newborn girl was born at a gestational age of 36 weeks and weighed 1926 g. One min after delivery the Apgar score was 4. The patient had persistent pulmonary hypertension (PH) and needed nitric oxide inhalation and i.v. epoprostenol all through her life. Although other oral medications for PH were tried, they could not be used in practice because of gastrointestinal complications. The patient died on the 237 th day of life as a result of worsening PH associated with infection.


Assuntos
Epoprostenol/análogos & derivados , Epoprostenol/uso terapêutico , Óxido Nítrico/administração & dosagem , Síndrome da Persistência do Padrão de Circulação Fetal/tratamento farmacológico , Piperazinas/uso terapêutico , Alvéolos Pulmonares/anormalidades , Sulfonamidas/uso terapêutico , Sulfonas/uso terapêutico , Administração por Inalação , Bosentana , Broncodilatadores/administração & dosagem , Relação Dose-Resposta a Droga , Quimioterapia Combinada , Epoprostenol/administração & dosagem , Evolução Fatal , Feminino , Seguimentos , Humanos , Recém-Nascido , Síndrome da Persistência do Padrão de Circulação Fetal/diagnóstico , Síndrome da Persistência do Padrão de Circulação Fetal/fisiopatologia , Piperazinas/administração & dosagem , Inibidores da Agregação Plaquetária/administração & dosagem , Inibidores da Agregação Plaquetária/uso terapêutico , Alvéolos Pulmonares/fisiopatologia , Purinas/administração & dosagem , Purinas/uso terapêutico , Citrato de Sildenafila , Sulfonamidas/administração & dosagem , Sulfonas/administração & dosagem , Fatores de Tempo , Vasodilatadores/administração & dosagem , Vasodilatadores/uso terapêutico
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