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1.
Radiol Case Rep ; 19(6): 2323-2327, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38559656

RESUMO

Mediastinal malignant rhabdoid tumor (MRT) is an exceedingly rare and aggressive neoplasm, particularly uncommon in infants. We present the case of a previously healthy 7-month-old male infant with mediastinal MRT. The patient initially presented with left eyelid ptosis and was otherwise asymptomatic. Initial investigations, including brain MRI, yielded unremarkable results, and the infant was discharged with vitamin B supplements. However, he was readmitted a week later with prolonged fever, poor feeding, diarrhea, and respiratory distress. Despite an initial diagnosis of bronchiolitis/viral respiratory tract infection, the patient's condition rapidly deteriorated. Subsequent evaluation revealed mediastinal MRT as the underlying cause. This case underscores the diagnostic challenges associated with mediastinal MRT in infants and highlights the importance of considering rare neoplastic etiologies in atypical clinical presentations.

2.
Physiol Rep ; 11(5): e15624, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-36872842

RESUMO

Radiodermatitis (RD) occurs in 95% of cancer patients undergoing radiation therapy. At present, there is no effective treatment for the management of this complication of radiotherapy. Turmeric (Curcuma longa) is a polyphenolic and biologically active natural compound with various pharmacological functions. The aim of this systematic review was to determine the efficacy of curcumin supplementation for reducing RD severity. This review complied with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) statement. A comprehensive literature search was conducted in Cochrane library, PubMed, Scopus, Web of Science, and MEDLINE databases. A total of seven studies comprising 473 cases and 552 controls were included in this review. Four studies demonstrated that curcumin supplementation had a beneficial effect on RD intensity. These data provide evidence for the potential clinical use of curcumin in supportive cancer care. Further large prospective and well-designed trials are warranted to exactly determine the "real effective extract, supplemental form and dose of curcumin" for RD prevention and treatment of patients receiving radiotherapy.


Assuntos
Curcumina , Radiodermite , Humanos , Curcuma , Estudos Prospectivos , Bases de Dados Factuais
3.
BMC Pediatr ; 19(1): 229, 2019 07 09.
Artigo em Inglês | MEDLINE | ID: mdl-31288771

RESUMO

BACKGROUND: Manganese is a critical trace element that not only has antioxidant properties, but also is essential for various metabolic pathways and neurotransmitters production. However, it can be toxic at high levels, particularly in the central nervous system. Manganese intoxication can be acquired, but an inherited form due to autosomal-recessive mutations in the SLC30A10 gene encoding a Mn transporter protein has also been reported recently. These mutations are associated with significant failure of manganese excretion and its storage in the liver, brain (especially basal ganglia), and other peripheral tissues, resulting in toxicity. CASE PRESENTATION: A 10-year-old boy from consanguineous parents presented with a history of progressive truncal instability, gait difficulty, and frequent falls for 2 months. He had dystonia, rigidity, ataxia, dysarthria, bradykinesia and a plethoric skin. Investigations showed polycythemia, low serum iron and ferritin levels, and increased total iron binding capacity. A brain MRI revealed symmetric hyperintensities in the basal ganglia and dentate nucleuses on TI images that were suggestive of brain metal deposition together with clinical manifestations. Serum calcium and copper levels were normal, while the manganese level was significantly higher than normal values. There was no history of environmental overexposure to manganese. Genetic testing showed a homozygous missense mutation in SLC30A10 (c.C1006T, p.His336Tyr) and Sanger sequencing confirmed a homozygous state in the proband and a heterozygous state in the parents. Regular treatment with monthly infusions of disodium calcium edetate and oral iron compounds resulted in decreased serum manganese and hemoglobin levels to normal values, significant resolution of MRI lesions, and partial improvement of neurological symptoms during 6 months of follow-up. CONCLUSION: The syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by SLC30A10 mutation is a treatable inherited metal deposition syndrome. The patient may only have pure neurological without hepatic manifestations. Although this is a rare and potentially fatal inborn error of metabolism, early diagnosis and continuous chelation therapy might improve the symptoms and prevent disease progression.


Assuntos
Proteínas de Transporte de Cátions/genética , Manganês/metabolismo , Doenças Metabólicas/genética , Mutação de Sentido Incorreto , Mutação Puntual , Encéfalo/patologia , Terapia por Quelação , Criança , Consanguinidade , Ácido Edético/uso terapêutico , Genótipo , Humanos , Compostos de Ferro/uso terapêutico , Imageamento por Ressonância Magnética , Masculino , Doenças Metabólicas/diagnóstico por imagem , Doenças Metabólicas/tratamento farmacológico , Neuroimagem , Sequenciamento do Exoma
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