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g., optic neuritis, white matter changes), or standard rat brain immunohistochemistry (e.g., AQP4 reactivity). GFAP-Ab did not associate with distinct clinical-radiologic features. NS-Ab were suggested by MRI findings (e.g., medial temporal lobe changes [AMPAR-Ab], or multifocal cortico-subcortical abnormalities [GABAaR-Ab]), uncommon comorbid conditions (e.g., recent herpesvirus encephalitis), atypical tumors (e.g., breast cancer, neuroblastoma), or rat brain immunostaining. Patients with NS-Ab were less likely to have substantial recovery than those with glial-Ab (5 of 10 [50%] vs 17 of 19 [89%], p = 0.03). CONCLUSIONS Between 4% and 7.5% of patients with anti-NMDAR encephalitis have concurrent glial-Ab or NS-Ab. Some of these antibodies (MOG-Ab, AQP4-Ab, NS-Ab) confer additional clinical-radiologic features and may influence prognosis. © 2020 American Academy of Neurology.OBJECTIVE Capillary electrophoresis of serum proteins demonstrates occasional distortions. Distortions or peaks in the gamma, beta, and alpha-2 zones may represent monoclonal gammopathy. In this study, we investigated if such distortions are associated with monoclonal gammopathy of undetermined significance (MGUS) or multiple myeloma. METHODS Consecutive serum protein electrophoresis results were reviewed and immunofixation studies were recommended on specimens exhibiting distortions or distinct peaks in the gamma, beta or alpha-2 zones. RESULTS AND DISCUSSION Of the 471 cases, we observed distortions in 101 cases. In the immunofixation studies, 17.8% of cases had a diagnosis of MGUS, but none contained multiple myeloma. CONCLUSIONS We conclude that distortions in serum capillary electrophoresis may be associated with MGUS, but not multiple myeloma. © 2020 by the Association of Clinical Scientists, Inc.OBJECTIVE Karyotype is the most important diagnostic and prognostic parameter in myelodys-plastic syndrome (MDS). Here, we describe a novel case of MDS with complex chromosomal abnormalities. CASE PRESENTATION A 55-year-old Chinese female was admitted to the hospital for facial edema and a loss of appetite. Bone marrow aspiration showed the blast cell count 3.6%. Erythrocyte hyperplasia was active, megaloblastoid change was observed, and a wide variability of nuclear numbers, as well as variability of size and shape was present. Bone marrow chromosomal analyses showed 45~48, X, -X, -4, t (5;8) (q13;q22), add (7) (q11), add (13) (p11), -14, del (16) (p13), add (19) (q13), -20, i(21)(q10),+4~6mar [cp15]/46,XX[5]. The patient was diagnosed with MDS with WPSS of the high risk group. IPSS was medium risk-2. IPSS-R was categorized as the extremely high risk group. CONCLUSION The prognosis and treatment of MDS with complex chromosomal abnormalities are still uncertain, and further studies are needed. © 2020 by the Association of Clinical Scientists, Inc.Coffin-Siris Syndrome (CSS) is a rare neurodevelopmental disorder characterized by intellectual disability, coarse facial features, hypoplastic digits/nails, and hypertrichosis. The genes causative of CSS mainly encode the SWI/SNF complex, which contributes to chromatin remodeling and regulates the access of transcriptional factors to specific gene sites. While ARID1B mutations account for a third of all CSS cases, the condition’s phenotypic features vary widely. We document the case of a girl with CSS who presented with a variant facial appearance, global developmental delay with speech impairment, agenesis of the corpus callosum, funnel chest, and bilateral renal stones without hypertrichosis or hypoplasia of the fifth fingernail. Genetic analysis revealed that the patient had a novel heterozygous frameshift mutation c.2201dupG (p.Ser736Ilefs*27) on the ARID1B gene. © 2020 by the Association of Clinical Scientists, Inc.Bone marrow necrosis (BMN) is a rare life-threatening condition in which the marrow is replaced by necrotic material. Half of BMN occurrences are attributed to chemotherapy or granulocyte-colony stimulating factor treatment in patients with hematolymphoid malignancies. However, we present a patient diagnosed with both multiple myeloma and extensive BMN despite being treatment-naïve. Our patient exhibited a TP53 deletion, TET2 frameshift mutation, and a single TET2 nucleotide change. Selleckchem 3-Amino-9-ethylcarbazole He is the third such patient reported, but the first to have his cytogenetic and molecular genetic profiles investigated using conventional cytogenetics, fluorescence in situ hybridization, and next-generation sequencing. © 2020 by the Association of Clinical Scientists, Inc.Disabled individuals may be at risk for common and rare infections. We report on a 13-year-old female who had a diagnosis of phenylketonuria (PKU). The child received a percutaneous endoscopic gastrostomy (PEG) feeding tube at five years of age for the supplementation of her specialized formula. After eight years, she no longer required the gastrostomy tube for formula supplementation, and she presented for the closure of the gastrocutaneous fistula tract. The histological examination revealed acute and chronic inflammation and colonization by gram-positive bacteria with a characteristic tetrad packet arrangement known as Clostridium ventriculi (formerly Sarcina ventriculi). A review of the literature evidenced the rarity of this infection in children. This patient is the 11th case of such infection in literature, and the first patient affected with PKU. Physically and mentally disabled children are particularly vulnerable to infection because of their different feeding abilities, toilet needs, and sanitary arrangements. © 2020 by the Association of Clinical Scientists, Inc.Labile HbA1c migrates in the #C fraction with modified hemoglobin (Hb) (such as carbamylated Hb, acetaldehyde Hb, and acetylated Hb) when HbA1c is measured by Arkray’s high-performance liquid chromatography (HPLC). We previously reported the usefulness of #C levels for the screening of variant Hb without diabetes mellitus. Because the #C levels are affected by plasma glucose levels, we investigated the usefulness of plasma glucose adjusted #C (PGa#C) for the screening of variant Hb complicated with diabetes mellitus. In this study, nine types of variant Hb in nine diabetic patients were included. HbA1c and the #C fraction were measured by Arkray’s HPLC. Furthermore, we established a calculation formula for PGa#C by using the regression equation of #C and plasma glucose of 2,299 diabetic patients without variant Hb. If the cutoff value of PGa#C for the screening of variant Hb with diabetes mellitus was set at 1.3% or lower and 2.3% or higher, sensitivity and specificity were 89% and 99.8%, respectively. The PGa#C levels in all four slow moving variant Hb with diabetes were less than 1.