Tatton-Brown-Rahman syndrome (TBRS) is a relatively new congenital anomaly syndrome manifesting overgrowth and a broad spectrum of intellectual disability. It is caused by pathogenic variants in the DNA methyltransferase 3 alpha (DNMT3A) gene, mainly de novo inheritance. Overgrowth, mild-to-severe intellectual disability, and other clinical features of TBRS may affect the quality of life of patients and their family members. Thus, early diagnosis by genetic testing and management of these symptoms is critical. We report a case of a 17-year-old male patient with hemihypertrophy who suffered back pain since school age, diagnosed with TBRS-identified DNMT3A gene mutation.

No abstract available.
Arteriovenous Malformations*

Anthocyanins are naturally occuring phytochemicals and the main components of the coloring of plants, flowers and fruits. They are known to elicit antioxidative, anti-inflammatory and cancer preventive activity. In this study, we investigated anthocyanins in black / yellow soybean seedcoats using different methods of detection - thin layer chromatography (TLC), capillary zone electrophoresis (CZE) and HPLC analysis. The anthocyanins in soybean seedcoats were extracted by five independent methods of extraction and the aglycons (anthocyanidins) of the corresponding anthocyanins were prepared by acid mediated hydrolysis. The anthocyanin / anthocyanidin in black soybean seedcoat showed characteristic TLC mobility, CZE electrophoretic retention and HPLC migration time while little of anthocyanins were detected from yellow soybean seedcoat. The extracted anthocyanins showed pH dependent retention time in CZE and spectral change in UV-Vis spectrum. HPLC analysis of the hydrolyzed extract of black soybean seedcoat identified the presence of four anthocyanidins. The major anthocyanin in black soybean seedcoat was cyanin (cyanidin-3-O-glucoside), with the relative order of anthocyanidin in cyanidin > delphinidin > petunidin > pelargonidin.
Anthocyanins ; Chromatography, High Pressure Liquid ; Chromatography, Thin Layer ; Electrophoresis, Capillary ; Flowers ; Fruit ; Hydrogen-Ion Concentration ; Hydrolysis ; Retention (Psychology) ; Soybeans

Seven phenolic compounds including p-coumaric acid (1), 4-hydroxybenzoic acid (2), 4-hydroxybenzaldehyde (3), vanillic acid (4), luteolin (5), acacetin (6), and tricin (7), were isolated from the methylene chloride and ethyl acetate fractions of Echinochloa utilis grains. Compounds (1 - 4, 6) were isolated for the first time from this plant. These compounds were tested for inhibitory activities against LPS-induced NO production in RAW 264.7 cells. Compounds 5 and 6 displayed significant inhibitory effects, with IC₅₀ values of 27.9 ± 2.6 and 14.0 ± 1.1 µM, respectively. The results suggested that E. utilis ethanolic extract may be used as a potential source of anti-inflammatory agents and functional foods for the treatment of allergic diseases.
Anti-Inflammatory Agents ; Echinochloa* ; Ethanol ; Functional Food ; Luteolin ; Methylene Chloride ; Phenol* ; Plants ; RAW 264.7 Cells ; Vanillic Acid

In our search for natural soluble epoxide hydrolase (sEH) inhibitors from plants, an extract of the dried whole plants of Euphorbia supina Rafin was found to significantly inhibit sEH activity in vitro. Phytochemical investigation of E. supina resulted in isolation of 17 compounds (1 - 17), including triterpenes (1 - 4), phenolic compounds (5 - 8), and flavonoid derivatives (9 - 17). The structures of the isolated compounds were established mainly by extensive analysis of the 1D and 2D NMR, and MS data. All of the isolated compounds were evaluated for their sEH inhibitory activity. Among the isolated phenolic compounds, 8 was identified as a significant inhibitor of sEH, with an IC50 value of 15.4 +/- 1.3 microM. Additionally, a kinetic analysis of isolated compounds (2, 5, 8 - 11, 13, and 17) indicated that the inhibitory effects of flavonoid derivatives 10 and 11 were of mixed-type, with inhibitory constants (Ki) ranging from 3.6 +/- 0.8 to 21.8 +/- 1.0 microM, whereas compounds 2, 5, 8, 9, 13, and 17 were non-competitive inhibitors with inhibition Ki values ranging from 3.3 +/- 0.2 to 39.5 +/- 0.0 microM.
Euphorbia* ; Euphorbiaceae ; Inhibitory Concentration 50 ; Phenol ; Triterpenes

PURPOSE: Toll-like receptor 3 (TLR3) recognizes to viral double-stranded RNA and is involved in antiviral defenses. A probable role of TLR3 gene variants in the pathogenesis of aspirin-intolerant asthma (AIA) has been suggested. AIA patients present more frequent asthma exacerbations in which respiratory viral infections could be an exacerbating factor. IgG subclass deficiency was commonly present with bronchial asthma. Based on previous findings, we investigated whether TLR3 variants could affect IgG3 subclass deficiency in AIA. METHODS: We enrolled 279 AIA patients, 403 aspirin-tolerant asthma (ATA) patients, and 315 normal healthy controls (NC) in this study. TLR3 polymorphism at the promoter region -299698G>T was genotyped. The serum levels of IgG subclasses were determined by the single radial immunodiffusion method. Expressions of IgG3 and TLR3 on Epstein-Barr virus transformed-B cells isolated from asthmatic patients were evaluated by flow cytometry to investigate B-cell functions. RESULTS: The TLR3 -299698 T allele was significantly associated with severity and IgG3 deficiency in the AIA group (P=0.044 and P=0.010, respectively), but not in the ATA group. IgG3 expression on B cells from asthmatics with IgG3 deficiency was significantly lower compared to those without (P=0.025). There was a positive correlation between IgG3 expression levels on B cells and serum IgG3 levels (r 2=0.434, P=0.002). CONCLUSION: These results suggest that the TLR3 -299698G>T polymorphism may be associated with IgG3 subclass deficiency and severity in AIA.
Alleles ; Asthma* ; B-Lymphocytes ; Flow Cytometry ; Herpesvirus 4, Human ; Humans ; Immunodiffusion ; Immunoglobulin G* ; Methods ; Polymorphism, Genetic ; Promoter Regions, Genetic ; RNA, Double-Stranded ; Toll-Like Receptor 3

BACKGROUND/AIMS: Role of autophagy in neutrophil function and the association of autophagy and autophagy related (ATG) gene polymorphisms with asthma susceptibility were suggested. In this study, we investigated the genetic association of ATG5 and ATG7 polymorphisms with asthma risk, severity and neutrophilic airway inflammation. METHODS: We recruited 408 asthma patients and 201 healthy controls. Sputum neutrophil counts were determined by H&E staining. Serum interleukin 8 (IL-8) levels were measured by enzyme-linked immunosorbent assay (ELISA). Genetic polymorphisms of ATG5 (-769T>C, -335G>A, and 8830C>T) and ATG7 (-100A>G and 25108G>C) were genotyped. The functional activities of ATG5 -769T>C and -335G>A variants were investigated by luciferase reporter assays. RESULTS: No associations of ATG5 and ATG7 polymorphisms with asthma susceptibility and severity were found. ATG5 -769T>C and -335G>A were in complete linkage disequilibrium. In the asthma group, GA/AA genotypes at ATG5 -335G>A were associated with higher neutrophil counts in sputum (p < 0.05); CC/TT genotype at ATG5 8830C>T associated with lower FEV1% predicted value (p < 0.05). DNA fragments containing ATG5 -769T and -335G alleles had higher promoter activities compared to those with -769C and -335A in both human airway epithelial cells (A549, p < 0.01) and human mast cell (HMC-1, p < 0.001). GG and CC genotype at ATG7 -100A>G and 25108G>C were significantly associated with high serum levels of IL-8 (p < 0.05 for both variants). CONCLUSIONS: Genetic polymorphisms of ATG5 and ATG7 could contribute to neutrophilic airway inflammation in the pathogenesis of adult asthma.
Adolescent ; Adult ; Asthma/blood/*genetics/immunology/pathology ; Autophagy/*genetics ; Autophagy-Related Protein 5/*genetics ; Autophagy-Related Protein 7/*genetics ; Case-Control Studies ; Cell Line ; Female ; Gene Frequency ; Genes, Reporter ; Genetic Predisposition to Disease ; Haplotypes ; Heterozygote ; Homozygote ; Humans ; Interleukin-8/blood ; Male ; Middle Aged ; Neutrophil Infiltration/*genetics ; Neutrophils/immunology/metabolism/*pathology ; Phenotype ; *Polymorphism, Single Nucleotide ; Promoter Regions, Genetic ; Risk Factors ; Severity of Illness Index ; Transfection ; Young Adult

Bioactivity-guided fractionation of MeOH extract of the dried fruits of Amomum tsao-ko led to isolation of nine compounds (1 – 9). Their structures were elucidated by spectroscopic methods including extensive 1D and 2D-NMR, as alpinetin (1), naringenin-5-O-methyl ether (2), naringenin (3), hesperetin (4), 2′,4′,6′-trihydroxy-4-methoxy chalcone (5), tsaokoin (6), boesenbergin B (7), 4-hydroxyboesenbergin B (8), and tsaokoarylone (9). Of these, compound 8 was isolated from a natural source for the first time, which was previously reported as a synthetic product. The isolated compounds (1 – 9) were tested for their inhibitory effects on LPS-induced nitric oxide production in RAW 264.7 macrophages. Among them, three chalcone derivatives (compounds 5, 7, and 8) and a diarylheptanoid (compound 9) exhibited significant inhibitory activity on the NO production with IC₅₀ values ranging from 10.9 to 22.5 µM.
Amomum ; Chalcone ; Ether ; Fruit ; Macrophages ; Nitric Oxide ; Zingiberaceae

Salvia miltiorrhiza is a traditional medicinal plant used in Asian medicine for various therapeutic purposes. This plant contains numerous bioactive secondary metabolites, particularly abietane-type diterpenoids. In this study, 16 abietane-type diterpenoids were isolated from S. miltiorrhiza root extracts and structurally identified through advanced spectroscopic techniques. Among them, tanshinone IIA (6) and 15,16-dihydrotanshinone I (11) exhibited potent α-glucosidase inhibition, with IC 50 values of 48.38 ± 0.57 and 48.02 ± 0.47 µM, respectively. Enzyme kinetic studies revealed that these compounds served as non-competitive inhibitors of α-glucosidase. Our findings indicate that natural compounds from S. miltiorrhiza show promise as safe and effective α-glucosidase inhibitors, providing an alternative approach to diabetes treatment. This study contributes to the growing interest in utilizing natural sources for α-glucosidase inhibition and their potential application in healthcare and disease management.

Iodine-131 is a radioisotope that is routinely used for the treatment of differentiated thyroid cancer after total or near-total thyroidectomy. However, there is some evidence that iodine-131 can induce liver injury . Here we report a rare case of drug-induced liver injury (DILI) caused by iodine-131 in a patient with regional lymph node metastasis after total thyroidectomy. A 47-year-old woman was admitted with elevated liver enzymes and symptoms of general weakness and nausea. Ten weeks earlier she had undergone a total thyroidectomy for papillary thyroid carcinoma and had subsequently been prescribed levothyroxine to reduce the level of thyroid-stimulating hormone. Eight weeks after surgery she underwent iodine-131 ablative therapy at a dose of 100 millicuries, and subsequently presented with acute hepatitis after 10 days. To rule out all possible causative factors, abdominal ultrasonography, endoscopic ultrasonography (on the biliary tree and gall bladder), and a liver biopsy were performed. DILI caused by iodine-131 was suspected. Oral prednisolone was started at 30 mg/day, to which the patient responded well.
Abdomen/diagnostic imaging ; Chemical and Drug Induced Liver Injury/*diagnosis/drug therapy ; Female ; Humans ; Iodine Radioisotopes/chemistry ; Lymph Nodes/pathology ; Lymphatic Metastasis ; Middle Aged ; Prednisolone/therapeutic use ; Thyroid Neoplasms/drug therapy/surgery ; Thyroidectomy ; Thyroxine/therapeutic use ; Ultrasonography