Medicine
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Case Reports
A novel compound heterozygous COL4A4 mutation in a Chinese family with Alport syndrome: A care case report.
Alport syndrome (AS) is an inherited progressive renal failure, characterized by kidney disease, hearing loss, and eye abnormalities. ⋯ This study was novel in finding that a triple variant of the COL4A4 gene simultaneously in trans and in cis. The effects of multiple mutation sites and the type of gene mutation in AS were also underlined.
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Case Reports
Breast osteosarcoma originating from a malignant phyllodes tumor: A case report of a rare neoplasm.
Malignant phyllodes tumors with osteosarcomatous transformation are exceedingly rare. The clinical manifestations are similar to those associated with benign giant calcification, resulting in nonspecific and complex clinical symptoms. ⋯ Diagnosing malignant phyllodes tumors with osteosarcomatous transformation requires a high level of suspicion and awareness by both surgeons and pathologists. They should be aware of the extent of such disease, which might be mistaken as benign giant calcification. Medical history and imaging findings are important for accurate diagnosis. Phyllodes tumor with an osteosarcomatous component is an aggressive neoplasm associated with distant metastasis. Delayed diagnosis and insufficient excision might negatively impact both treatment and survival.
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Favism is a well-known cause of acute hemolytic anemia. Rarely, methemoglobinemia can also happen because of fava bean ingestion in patients with glucose-6-phosphate dehydrogenase (G6PD) deficiency. Few cases with this co-occurrence have been reported in the literature. ⋯ Patients with G6PD deficiency can develop both acute hemolytic anemia and methemoglobinemia secondary to fava beans ingestion. These patients should not receive methylene blue to avoid worsening hemolysis.
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Observational Study
Effect of delayed palivizumab administration on respiratory syncytial virus infection-related hospitalisation: A retrospective, observational study.
Respiratory syncytial virus (RSV) infection is an important cause of hospitalization in infants and young children. Monthly administration of palivizumab during the RSV season is effective in preventing severe infections in children with comorbidities. However, determining the onset of the RSV season for starting palivizumab is often challenging. ⋯ Children living with siblings and children with cyanosis originating from congenital heart disease had a higher risk of RSV with odds ratios of 5.1 (95% confidence interval 1.48-17.6, P < .01) and 3.3 (95% confidence interval 1.33-7.94, P < .01), respectively. Delays in administering palivizumab at the beginning of the season increases the rate of RSV infection-related hospitalization. To maximize prophylactic effectiveness, administering the first dose as early as possible in the RSV season is crucial, with priority for cyanotic children or those with siblings.
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Biliary atresia (BA) is the most serious type of obstructive cholangiopathy that occurs in infants. BA can be the cause of death in children under 2 years if untreated early. However, the etiology of the disease is not known. ⋯ The initial results of clinical, biochemical, and genetic analysis in our study suggested that the p. Val444Ala variant in the ABCB11 gene may be a susceptibility factor for the disease in Vietnamese patients with BA. These results provided new insights into the role of this ABCB11 variant in the pathogenesis of BA.