Risk Factors of Seizure in Childhood Shigellosis.

Objectives: Shigellosis is one of the common causes of bacterial diarrhea in children. Seizures are common in shigellosis. It is essential to identify the risk factors of seizure in this disease. Materials & Methods: This study was conducted on 224 children with shigellosis. The patients were divided into: With (case groups = 63 cases) and without seizures (control group = 161 cases). Groups were compared regarding different variables such as age, gender, clinical symptoms, and laboratory findings. Data analysis was done using statistical tests and SPSS software. Logistic regression analysis was used to determine the risk factors of seizures. Results: Out of 224 cases of children with shigellosis, 107 (47.8%) were male and 117 (52.2%) female. Significant differences were observed between the two groups in terms of age, history of febrile convulsions, frequency of bloody diarrhea, frequency of fever, duration of diarrhea before hospitalization, abdominal pain, increase in BUN, hyponatremia, hypocalcemia, and red blood cell count in stool (P<0.05). Logistic regression analysis showed that a history of febrile seizure, fever, and hyponatremia are the risk factors for seizures in shigellosis. Conclusion: This study concluded that a history of febrile seizure, fever, and hyponatremia are risk factors for seizure in childhood shigellosis, thus rapid diagnosis and treatment of childhood shigellosis with risk factors is very important.

A novel likely pathogenic homozygous RBCK1 variant in dilated cardiomyopathy with muscle weakness.

AIMS: Polyglucosan body myopathy 1 (PGBM1) is a type of glycogen storage disease where polyglucosan accumulation leads to cardiomyopathy and skeletal muscle myopathy. Variants of RBCK1 is related with PGBM1. We present a newly discovered pathogenic RBCK1 variant resulting in dilated cardiomyopathy (DCM) and a comprehensive literature review. METHODS AND RESULTS: Whole-exome sequencing (WES) was utilized to detect genetic variations in a 7-year-old girl considered the proband. Sanger sequencing was performed to validate the variant in the patient and all the available family members, whether affected or unaffected. The variant's pathogenicity was assessed by conducting a cosegregation analysis within the family with in silico predictive software. WES showed that the proband's RBCK1 gene contained a missense likely pathogenic homozygous nucleotide variant, c.598_599insT: p.His200LeufsTer14 (NM_001323956.1), in exon 8. The computational analysis supported the variant's pathogenicity. The variant was identified in a heterozygous form among all the healthy members of the family. Variants with changes in N-terminal part of the protein were more likely to manifest immunodeficiency and auto-inflammation than those with C-terminal protein modifications according to prior variations of RBCK1 reported in the literature. CONCLUSIONS: Our study offers novel findings indicating an RBCK1 variant in individuals of Iranian ancestry presenting with DCM leading to heart transplantation and myopathy without immunodeficiency or auto-inflammation.

Catecholaminergic polymorphic ventricular tachycardia (and seizure) caused by a novel homozygous likely pathogenic variant in CASQ2 gene.

BACKGROUND: Although structural heart disease is frequently present among patients who experience sudden cardiac death (SCD), inherited arrhythmia syndromes can also play an important role in the occurrence of SCD. CPVT2, which is the second-most prevalent form of CPVT, arises from an abnormality in the CASQ2 gene. OBJECTIVE: We represent a novel CASQ2 variant that causes CPVT2 and conduct a comprehensive review on this topic. METHODS: The proband underwent Whole-exome sequencing (WES) in order to ascertain the etiology of CPVT. Subsequently, the process of segregating the available family members was carried out through the utilization of PCR and Sanger Sequencing. We searched the google scholar and PubMed/Medline for studies reporting CASQ2 variants, published up to May 10,2023. We used the following mesh term "Calsequestrin" and using free-text method with terms including "CASQ2","CASQ2 variants", and "CASQ2 mutation". RESULTS: The CASQ2 gene was found to contain an autosomal recessive nonsense variant c.268_269insTA:p.Gly90ValfsTer4, which was identified by WES. This variant was determined to be the most probable cause of CPVT in the pedigree under investigation. CONCLUSION: CASQ2 variants play an important role in pathogenesis of CPVT2. Notabely, based on results of our study and other findings in the literature the variant in this gene may cause an neurological signs in the patients with CPVT2. Further studies are needed for more details about the role of this gene in CPVT evaluation, diagnosis, and gene therapy.

The Effect of Adding Honey to Zinc in the Treatment of Diarrhea in Children.

BACKGROUND: Honey has been used in medicine since ancient times. Limited reports are available to indicate its antibacterial, antiviral, and antidiarrheal properties. This study aimed to determine the effect of honey on acute diarrhea in children. METHODS: This randomized clinical trial included 80 children with acute diarrhea. Forty children received honey and zinc gluconate (trial group) and 40 received only zinc gluconate (control group). After treatment, vomiting/diarrhea duration, the recovery time, and the duration of hospitalization were compared between the groups. RESULTS: Among the 40 children in the trial group, 19 were male and 21 were female. In the control group, 25 children were male and 15 female (P=0.26). After initiating treatment, the duration of diarrhea, recovery time, and the duration of hospitalization was significantly shorter in the trial group than in the control group (P<0.05). CONCLUSION: This study showed that honey with zinc gluconate reduces the duration of diarrhea, accelerates the recovery time, and shortens the duration of hospitalization.

Anticancer Impacts of Terminalia catappa Extract on SW480 Colorectal Neoplasm Cell Line.

PURPOSE: Colorectal cancer (CRC) is one of the most lethal and prevalent cancers throughout the world. Despite the remarkable advance in the field, drug resistance still remains as an unresolved problem in cancer. Hence, finding effective compounds with minimal side effects to fight cancer is of central priority. Herbal products have been traditionally used to prevent and treat a variety of diseases. METHODS: In the present study, the antitumor effect of Terminalia catappa plant ethanolic extract (TCE) was assessed on SW480 CRC model cell line. In this regard, effects of TCE were evaluated on the proliferation, apoptosis, and migration of SW480 cells by 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide (MTT) assay, Annexin V/PI flow cytometry, and scratch tests, respectively. Furthermore, changes in the expression of genes involved in these events including Bax, Bcl-2, Caspase 3, Caspase 8, Caspase 9, MMP-13, miR-21, and miR-34a were measured by quantitative real-time PCR (qRT-PCR). RESULTS: According to the MTT results, TCE reduced the proliferation of SW480 cells significantly. The flow cytometry test also revealed a notable rate of apoptosis induction after TCE treatment. An inhibitory effect on cell migration was also evident in scratch test. Expression patterns of the assessed genes also changed subsequent to TCE treatment. CONCLUSION: The results of this study indicated that T. catappa could be considered as a potential source of anticancer compounds and a candidate for further investigations.

Vitamin D receptor gene (FokI, TaqI, BsmI, and ApaI) polymorphisms in children with urinary tract infection.

BACKGROUND: Little is known about the genetic background of urinary tract infection (UTI) in children. METHODS: In this study, vitamin D receptor (VDR) gene polymorphisms were compared between 60 children with UTI (case group) and 60 healthy children (control group). DNA extraction, polymerase chain reaction, and the restriction fragment length polymorphism methods were used to perform the genetic analysis. RESULTS: There was a significant difference between the case and control groups for VDR gene, ApaI and Bsml, polymorphisms (P < 0.05). The frequency of VDR Bb, bb, Aa, and aa genotypes, and the b and a alleles in the case group was significantly higher than that in the control group (P < 0.05). A significant difference was also found between lower UTI and acute pyelonephritis groups for the VDR Apal and Bsml genotypes (P < 0.05). There was no significant difference between children with first UTI and those with more than one UTI for VDR gene polymorphisms (P > 0.05). CONCLUSION: This study showed that there is a significant relationship between VDR gene, Apal and Bsml, polymorphisms and UTI in children. The results indicate that these polymorphisms may play a role in pathogenesis of UTI.