Search

Background and Aim: Smart Gene™ was developed based on the concept of point‐of‐care genetic testing. We evaluated the detection performance of a reagent for Helicobacter pylori (H. pylori) clarithromycin (CAM)‐resistant mutation assessment and determined the association between the results of Smart Gene™ and those of eradication therapy for H. pylori. Methods: In 2020, the present study was conducted on participants of the H. pylori test and treat project in Saga Prefecture. The submitted stool samples were measured for H. pylori gene and CAM‐resistant mutation by Smart Gene™, and the results were compared with real‐time polymerase chain reaction (PCR) and sequencing analysis. Finally, the results of the eradication therapy were examined for each result of Smart Gene™. Results: Stool samples were obtained from 139 patients who were tested positive by stool antigen test and were analyzed. The H. pylori detection rate was 95.7% by Smart Gene™, 92.8% by real‐time PCR (P < 0.01), and 89.2% by sequencing analysis (P = 0.06). The overall concordance rate for CAM‐resistant mutation between Smart Gene™ and sequencing analysis was 96.7%. Moreover, 35 of 48 students with CAM‐resistant mutation and 33 of the 35 students with a mutation without CAM resistance succeeded in CAM‐containing triple therapy, and the success rate was significantly higher for the mutation without CAM resistance (P = 0.012). Conclusions: The detection performance of Smart Gene™ was comparable with that of real‐time PCR and sequencing analysis. It is expected that the success rate of eradication would be further improved by using the reagent. [ABSTRACT FROM AUTHOR]

Constipation and stercoral ulcer are risk factors associated with Hirschsprung's disease (HD); long‐term follow‐up is, thus, essential. In postoperative HD associated with Down syndrome (DS) with intellectual disability, vigilant follow‐up is required to avoid severe constipation because DS predisposes the patients to constipation and caregivers cannot easily understand the symptoms. [ABSTRACT FROM AUTHOR]

Background: The screening and treatment of Helicobacter pylori infection for all junior high students in Saga Prefecture, Japan, were started in 2016. The present study aims to evaluate the influence of adverse reactions on the success of the eradication therapy. Methods: From 2017 to 2019, 25,006 third‐grade junior high school students were tested for urinary anti‐H. pylori antibodies. Positive cases were confirmed by H. pylori stool antigen tests. Of the 531 students who were found to be H. pylori‐positive, 390 (358 in first‐line and 32 in second‐line therapy) underwent eradication therapy, and 274 (242 in first‐line and 32 in second‐line) students actually completed a self‐reported form to rate stool consistency (based on the Bristol Stool Scale), the maximum number of bowel movements, and abdominal symptoms during the 7 days of treatment. Results: Among the 274 students, the total of primary and secondary eradication success rates was 87% (95% confidential interval: 82.9–90.1) in intention‐to‐treat analysis. On days 4, 5, and 6, stool consistency was looser in the primary eradication failure group than in the success group (p <.05). Looser stool consistencies were observed in male students with abdominal pain compared to those who did not experience pain (p <.05). Abdominal pain and diarrhea were detected in 28.5% and 42.7% of the subjects, respectively. The overall incidence of other adverse events was low (n = 8/274, 2.9%), and only two students discontinued treatment because of adverse events. Conclusions: Softening of the stool was related to the eradication failure in the junior high school students, especially in males with abdominal pain. Adverse effects did not induce discontinuation of the eradication treatment. [ABSTRACT FROM AUTHOR]

Low‐dose aspirin (LDA)–induced gastric mucosal injury always requires rigorous follow‐up while taking LDA, even in adolescents, and after a long time from the start of LDA. [ABSTRACT FROM AUTHOR]

Women taking entecavir hydrate (ETV) may not need to consider abortion in the event of an unexpected pregnancy. If a woman with renal dysfunction and taking ETV for chronic hepatitis B becomes pregnant, continuous use of ETV may also be tolerated. [ABSTRACT FROM AUTHOR]

Background: Probiotics are beneficial to patients with Helicobacter pylori infections by modulating the gut microbiota. Biofermin‐R (BFR) is a multiple antibiotic‐resistant lactic acid bacteria preparation of Enterococcus faecium 129 BIO 3B‐R and is effective in normalizing the gut microbiota when used in combination with antibiotics. This study aimed to determine the effect of BFR in combination with vonoprazan (VPZ)‐based therapy on gut microbiota. Methods: Patients with positive urinary anti‐H pylori antibody test (primary test) and fecal H pylori antigen test (secondary test) were examined. Patients in group 1 (BFR−) received VPZ (20 mg twice daily), amoxicillin (750 mg twice daily), and clarithromycin (400 mg twice daily) for 7 days. Patients in group 2 (BFR+) received BFR (3 tablets/day) for 7 days, in addition to the aforementioned treatments. Following treatment, the relative abundance, α‐diversity, and β‐diversity of gut microbiota were assessed. Results: Supplementation with BFR prevented the decrease in a‐diversity after eradication therapy (Day 7). β‐diversity was similar between groups. The incidence rate of diarrhea was non‐significantly higher in the BFR− than in the BFR+ group (73.1% vs 56.5%; P =.361). Stool consistency was comparable in the BFR+ group on Days 7 and 1 (3.86 ± 0.95 vs 3.86 ± 1.46; P =.415). Conclusion: Biofermin‐R combined with VPZ‐based therapy resulted in higher microbial α‐strain diversity and suppressed stool softening during H pylori eradication therapy. [ABSTRACT FROM AUTHOR]

Abstract: Background: The aim of this study was to determine the frequency of central nervous system comorbidities in children with neurofibromatosis type 1 (NF1). Methods: We performed a nationwide survey to investigate neurological comorbidities in 3–15‐year‐old children with NF1 in Japan by sending questionnaires to pediatricians and pediatric neurologists. A secondary questionnaire was sent to the parents of identified NF1 patients to assess neurological comorbidities including headache, attention deficit–hyperactivity disorder (ADHD) Rating Scale (RS), and the Social Responsiveness Scale 2. Results: The primary survey identified 760 NF1 patients, and the parents of 565 patients were sent the secondary questionnaire. The parental response rate was 25.7% (145; 63 girls, 81 boys, one unspecified). Among the patients, 42.9% (55/128; 35 girls, 20 boys) were reported to exhibit intellectual problems. On the ADHD‐RS, 40.2% (47/117) of NF1 patients aged 6–15 had ADHD (RS score >93rd percentile), with a rate of 47.7% in boys and 30.8% in girls. Furthermore, 20.2% of patients had suspected autism spectrum disorder (29/143; 10 girls, 19 boys), with Social Responsiveness Scale score ≥76. Headache was reported by 49.6% (61/123) of children over 5 years old, and 25.2% (31/123; 10 girls, 21 boys) reported migraine. Other neurological comorbidities included 20 cases of epilepsy (13.8%), 11 cases of optic nerve glioma (7.6%), five cases of brain tumor (3.4%), six cases of cerebrovascular disease (4.1%), and two cases of hydrocephalus (1.4%). Conclusion: Intellectual problems, ADHD, autism spectrum disorder, and migraine are major neurological comorbidities in NF1. [ABSTRACT FROM AUTHOR]

Objective GABRA1 mutations have been identified in patients with familial juvenile myoclonic epilepsy, sporadic childhood absence epilepsy, and idiopathic familial generalized epilepsy. In addition, de novo GABRA1 mutations were recently reported in a patient with infantile spasms and four patients with Dravet syndrome. Those reports suggest that GABRA1 mutations are associated with infantile epilepsy including early onset epileptic encephalopathies. In this study, we searched for GABRA1 mutations in patients with infantile epilepsy to investigate the phenotypic spectrum of GABRA1 mutations. Methods In total, 526 and 145 patients with infantile epilepsy were analyzed by whole-exome sequencing and GABRA1-targeted resequencing, respectively. Results We identified five de novo missense GABRA1 mutations in six unrelated patients. A p.R112Q mutation in the long extracellular N-terminus was identified in a patient with infantile epilepsy; p.P260L, p.M263T, and p.M263I in transmembrane spanning domain 1 ( TM1) were identified in three unrelated patients with West syndrome and a patient with Ohtahara syndrome, respectively; and p.V287L in TM2 was identified in a patient with unclassified early onset epileptic encephalopathy. Four of these mutations have not been observed previously. Significance Our study suggests that de novo GABRA1 mutations can cause early onset epileptic encephalopathies, including Ohtahara syndrome and West syndrome. [ABSTRACT FROM AUTHOR]

Hemophilic pseudotumor is a rare complication, even in patients with severe hemophilia. Herein we report on a case of hemophilic pseudotumor in a patient with mild hemophilia A and allergic rhinitis, initially suspected to be a nasal tumor. The pseudotumor was cured by supplementation with recombinant factor VIII concentrates, and medication for allergic rhinitis. Pseudotumor should always be considered in hemophiliac patients, even in those with only mild deficiency of coagulation factors. [ABSTRACT FROM AUTHOR]

Purpose: Severe myoclonic epilepsy in infancy (SMEI) is a distinct epilepsy syndrome. Patients with borderline SMEI (SMEB) are a subgroup with clinical features similar to those of core SMEI but are not necessarily consistent with the accepted diagnostic criteria for core SMEI. The aim of this study was to delineate the genetic correlation between core SMEI and SMEB and to estimate the frequency of mutations in both phenotypes. Methods: We examined 96 healthy volunteers and 58 unrelated individuals whose clinical features were consistent with either core SMEI (n = 31) or SMEB (n = 27). We screened for genetic abnormalities within exons and their flanking introns of the genes encoding major subunits of the Na+ channels ( SCN1A, SCN2A, SCN1B, and SCN2B) by using a direct sequencing method. Results: In both core SMEI and SMEB, various mutations of SCN1A including nonsense and missense mutations were identified, whereas no mutations of SCN2A, SCN1B, and SCN2B were found within the regions examined. All mutations were heterozygous and not found in 192 control chromosomes. Mutations were identified in 26 (44.8%) of the 58 individuals and were more frequent (p < 0.05) in core SMEI (19 of 31) than in SMEB (seven of 27), as assessed by the continuity-adjusted χ2 test. Mutations resulting in a molecular truncation were found only in core SMEI. Among the mutations, two missense mutations were found in both core SMEI and SMEB. Conclusions: Our findings confirm that SMEB is part of the SMEI spectrum and may expand the recognition of SMEI and suggest other responsible or modifying genes. [ABSTRACT FROM AUTHOR]

We describe a 15-day-old newborn girl who was fed with formula milk that was accidentally diluted with sake (Japanese wine prepared from fermented rice). The clinical features were flushed skin, tachycardia and low blood pressure indicating circulatory failure, somnolence and metabolic acidosis without hypoglycemia. The serum ethanol concentration was 43.0 mg/dL at 3 h after intake. The patient recovered under intravenous fluid replacement without complications. Follow-up examinations at 1, 2, 3, 6 and 12 months confirmed normal psychomotor development. [ABSTRACT FROM AUTHOR]

Prostaglandins (PGs) and thromboxane (TX) are important mediators of inflammation. Recent studies revealed that PG and TX synthesis is controlled by the regulation of PG- and TX-synthesizing enzymes. In this study, we examined the TX synthesis and the expression of TX-synthesizing enzymes in activated peripheral polymorphonuclear leukocytes (PMNs) obtained from children with bacterial infection. Blood samples were obtained from controls and patients with bacterial infection. A23187-stimulated production of TXB(2), a stable metabolite of TXA(2) in PMNs, was measured by a specific radioimmunoassay. The mRNA expression of cytosolic phospholipase A(2) (cPLA(2)), cyclooxygenase (COX)-1, COX-2, and TXA(2) synthase was determined by RT-PCR. The synthesis of TXB(2) in PMNs was significantly increased in the patients [925.0 (550.0-1100.0) pg/10(6) cells], compared with the controls [550.0 (450.0-775.0) pg/10(6) cells]. The mRNA expression for cPLA(2) and COX-2 in PMNs was also enhanced in the patients. The results indicate that TX production in PMNs is significantly increased through possible transcriptional mechanisms of cPLA(2) and COX-2 during bacterial infection in children. The upregulation of TXA(2) synthesis may contribute to the process of acute inflammatory reaction caused by bacterial infection., (Copyright 2003 Wiley-Liss, Inc.)