Medicine
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Observational Study
Association between hypothyroidism and chronic kidney disease observed among an adult population 55 years and older.
Hypothyroidism and chronic kidney disease (CKD) are highly prevalent conditions with a potential mechanistic link. We sought to determine whether hypothyroidism is associated with CKD among a large diverse community-based cohort. A cross-sectional study was performed (January 1, 1990-December 31, 2017) within a large integrated health system. ⋯ A similar relationship was observed in analyses that defined CKD as an eGFR <60 L/min/1.73 m. Among individuals 55 years and older, we observed that those with hypothyroidism were more likely to have CKD. A stronger association was found among patients of hypothyroid status compared with attenuated-hypothyroid status suggesting a dose dependent relationship.
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This case report expands the mutation and phenotypic spectra of Beaulieu-Boycott-Innes syndrome (BBIS), and will be valuable for mutation-based pre- and post-natal screening of BBIS when conducting a genetic diagnosis. ⋯ BBIS is a rare syndromic autosomal recessive disease with intellectual disability and it is normally difficult for clinicians to recognize it. Whole exome sequencing is an efficient way to identify the gene which causes a particular disease in patients.
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Case Reports
Methotrexate-associated lymphoproliferative disorders in the central nervous system and stomach: A case report.
Methotrexate-associated lymphoproliferative disorder (MTX-LPD) is a serious complication in patients treated using methotrexate. It occasionally develops in extra-nodal sites, but rarely in the central nervous system (CNS) or in 2 different sites at the same time. We present the rare case of a patient with rheumatoid arthritis who developed lymphoma in the CNS and stomach during MTX therapy. ⋯ In patients with RA who receive MTX and develop new neurological symptoms, CNS lymphoma as an MTX-LPD may be considered as a differential diagnosis.
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Right atrial aneurysm (RAA) is a rare congenital heart disease (CHD) that usually shows no symptom and is discovered occasionally. This paper introduces the clinical and imaging data obtained in 2 RAA patients and presents a related literature review with the aim of increasing understanding of this disease. ⋯ RAA is a rare cardiac anomaly that can induce severe complications, and it is mainly diagnosed based on imaging examinations. Conservative treatment and regular imaging monitoring are recommended for asymptomatic patients with no high-risk factors, while surgical treatment should be performed in symptomatic patients with high-risk factors.
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Co-occurrence of cytogenetic and molecular abnormalities is frequently seen in patients with acute myeloid leukemia (AML). The clinical outcome and genetic abnormalities of AML may vary; therefore, genetic investigation must be complex, using several techniques, to have an appropriate characterization of the AML genome and its clinical impact. The available molecular markers can predict prognosis only partially. Acute promyelocytic leukemia subtype M3 (AML M3) is a subtype of AML characterized by the presence of promyelocytic leukemia-retinoic acid receptor alpha (PML-RARA) genes fusion. Targeted treatment with all-trans-retinoic acid (ATRA) and ATRA combined with arsenic trioxide significantly improved the survival of AML M3 patients. Unknown prognostic factors could contribute to the early death of these patients. ⋯ The presence of FLT3 internal tandem duplication (ITD) mutation may explain the rapid and progressive degradation of this AML M3 case and it may be used as a prognostic marker even when co-occuring with other markers such as PML-RARA gene fusion and trisomy 8. We consider that FLT3 ITD mutation analysis in young patients with AML should be performed as soon as possible. New strategies for patients' education, AML (or cancers in general) prevention, and treatment are needed.