A Novel Variant in the Desmoplakin Gene in One Case of the Rare Carvajal Syndrome with Dilated Cardiomyopathy: A Case Report and Literature Review.

Carvajal syndrome is a rare hereditary cardiocutaneous syndrome caused by the variants of the desmoplakin (DSP) gene. In this study, we report a patient of Carvajal syndrome with a novel homozygous missense variant of DSP gene. We diagnosed a 7-year-old female patient with Carvajal syndrome characterized by dilated cardiomyopathy, palmoplantar keratoderma, woolly hair, and dental dysplasia, who disclosed a novel homozygous missense variant c.4597C > T (p.Q1533X) in exon 6 of the DSP gene found for the first time. Both her parents were heterozygous for the identified nonsense variant c.4597C > T (p.Q1533X) in DSP gene but neither showed evidence of Carvajal syndrome, indicating that this novel variant causes the disease in an autosomal recessive manner. Genotypes of Carvajal syndrome are even broader than so far anticipated. When patients with dilated cardiomyopathy, palmoplantar keratoderma, woolly hair, and dental dysplasia are found in clinical practice, Carvajal syndrome should be highly suspected, and family gene sequencing should be actively carried out.

Hydromethanolic extract of Rehum emodi exhibits significant antimicrobial activity against acute gastroenteriti bacterial strains.

Rehum emodi is an important medicinal herbal and has been reported to exhibit tremendous pharmacological potential. The present study was designed to evaluate the antibacterial activity of hydromethanolic extract of rhizome of Rehum emodi against the acute gastroenteriti bacterial strains. The antimicrobial activity was determined by micro-dilution method. Antioxidant activity was determined by DPPH assay and cytotoxicity by MTT assay. Phytochemical analysis was carried out by LC/MS analysis. The results of the present study showed that hydromethanolic extract of rhizome of Rehum emodi (REE) exhibited significant antimicrobial activity against the gastroenteriti bacterial strains. The MIC values ranged from 25 µg/ml to 125 µg/ml. Moreover, the cytotoxicity of the REE was evaluated against the human breast cell line FR-2 and it was observed that REE exerted minimal cytotoxic effects on these cells with an IC50 of 250 µg/ml indicating that this extract is non-toxic to human cells. The phytochemical analysis revealed the presence of several secondery metabolites such as anthroquinones (anthrone, emodin, aloe emodin and rhein) flavonoids (quercetin, and naringenin) and phenolics (sinapinic acid and gallic acid) which could potentially be responsible for the activity of the extract. In conclusion REE could potentially prove to be useful in the treatment of acute gastroenteritis.