Congenital dyserythropoietic anemias (CDA) are disorders characterized by ineffective erythropoiesis and morphological anomalies in erythrocytes and erythroblasts. The purpose of this study is to identify the gene variants in patients diagnosed with CDA. We analyzed five unrelated patients and two siblings with a targeted panel of genes to CDA: CDAN1, CDIN1, SEC23B, KIF23, KLF1, and GATA1 genes. We found three novel variants in the CDIN1 gene (p.Leu136Val, p.Tyr247Cys, and p.Ile273Thr), four known variants in the SEC23B gene (p.Arg14Trp, p.Arg554Ter, p.Asp239Gly, and p.Ser436Leu), and one novel variant in the KIF23 gene (p.Leu945Trpfs*31). The in silico analysis of novel variants predict that they are pathogenic and, the in vitro study confirms the functional impact of the KIF23 variant on the protein location.Keywords CDA types Ib . II and III. CDIN1 . SEC23B and KIF23 genes
Non-Hodgkin's lymphoma (NHL) of the gastrointestinal (GI) tract is the most common extranodal lymphoma, accounting for approximately 40% of all extranodal NHLs. Initial treatment of duodenal lymphoma includes surgery, chemotherapy and radiotherapy, alone or in combination. Here, we present a case of stage I primary duodenal follicular lymphoma (FL) showing a complete response after rituximab therapy. Rituximab alone can be an effective alternative treatment for duodenal FL.
Although clinical presentation of fibrillary glomerulonephritis is similar to most forms of glomerulonephritis, it is usually difficult to make the diagnosis. Clinical manifestations include proteinuria, microscopic haematuria, nephrotic syndrome, and impairment of renal function. A diagnosis of fibrillary glomerulonephritis is only confirmed by renal biopsy and it must comprise electronmicroscopy-verified ultrastructural findings. We report four cases between 45–50 years old with documented type 2 diabetes mellitus (T2DM) and arterial hypertension. All patients were found to have fibrils on kidney biopsy. The differential diagnosis of fibrils in the setting of diabetes mellitus is also discussed.
La actinomicosis es una patología poco frecuente y su manifestación en la pared abdominal es más infrecuente aún. Está causada por Actinomyces israeli, una bacteria filamentosa, anaerobia estricta, gram positiva, que es comensal en el organismo y que en su forma patógena produce fibrosis, tejido de granulación y abscesos. La forma más frecuente es la cérvico-facial. Presentamos un caso de actinomicosis de pared abdominal diagnosticado postoperatoriamente, con sospecha prequirúrgica de proceso tumoral, por lo que queremos hacer especial mención acerca de la importancia del diagnóstico diferencial de actinomicetoma ante la presencia de una masa abdominal. Palabras clave Actinomicosis, Tumores de pared abdominal, Sarcomas.
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