Gastric duplication complicated by hypergastrinemia: A case report

Introduction: Gastrointestinal duplications are rare congenital anomalies that can occur anywhere throughout the intestinal tract. However, gastric duplication is very rare. A case of gastric duplication with uncommon complications, hypergastrinemia and duodenal ulcer, is described. Case report: The patient was an 11-year-old girl who presented with epigastric pain and non-bilious vomiting. The patient had a history of recurrent duodenal ulcers. Gastrin levels when the patient first presented with a duodenal ulcer at 8 years of age had reached 730 pg/mL. Computed tomography (CT) showed a cyst outside the pyloric antrum after remission of the duodenal ulcer, and it was suspected to be gastric duplication. For recurrence of the duodenal ulcer, the patient had been treated with histamine 2 receptor blockade for 3 years. At 11 years of age, the patient had stopped the medication and presented with gastric pain and vomiting. CT showed an enlarged gastric cyst and an obstructed pylorus. The patient was then referred to our hospital, and a laparotomy was performed to resect the cyst. Histological examination revealed positive staining for gastrin in the cyst wall mucosa, which is consistent with gastric duplication. Postoperative serum gastrin levels decreased, suggesting that gastric duplication had caused the hypergastrinemia. Conclusion: A case of gastric duplication was presented. Gastric duplication should be considered when treating patients with cystic disease of the pyloric region. In addition, hypergastrinemia may occur due to duplicated intestine near the pylorus, which may cause a duodenal ulcer

Efficacy and Safety of Teduglutide in Infants and Children With Short Bowel Syndrome Dependent on Parenteral Support

Objectives: Our objective was to evaluate the short-and long-term safety and efficacy of teduglutide treatment in infants and children with short bowel syndrome with intestinal failure (SBS-IF).Methods: Two open-label phase 3 studies and 1 extension study investigated the short-and long-term safety and efficacy of teduglutide (0.05 mg/kg/day) in infants and children with SBS-IF: NCT03571516, 24-week study of infants who were randomized to receive teduglutide or standard of care (SoC); NCT02980666, 24-week study of infants and children who all received teduglutide; and NCT03268811, 24-week extension study of patients who completed NCT02980666 (patients could receive up to 48 weeks of total treatment).Results: Twelve infants and 8 children enrolled in the core studies, and 2 infants and 7 children in the extension study. After 24 weeks of treatment, parenteral support (PS) requirements reduced by =20% from baseline for 4 infants (57.1%) and 4 children (66.7%) receiving teduglutide and for 2 infants receiving SoC (50.0%). One infant (50.0%) and 4 children (80.0%) receiving teduglutide maintained the =20% reduction in PS at 48 weeks of treatment. Two children receiving teduglutide achieved enteral autonomy, after 12 weeks and 28 weeks of treatment, respectively. All adverse events (AEs) were in line with known impacts of SBS-IF and adverse reactions to teduglutide. Only one serious AE (abdominal pain) was considered related to teduglutide.Conclusions: Short-and long-term treatment with teduglutide resulted in clinically meaningful reductions in PS requirements for infants and children with SBS-IF. Teduglutide was well tolerated, and efficacy improved with longer-term treatment.Peer reviewe

Ubiquitin ligase RNF8 suppresses Notch signaling to regulate mammary development and tumorigenesis

Storage and consumption of neutral lipids in lipid droplets (LDs) are essential for energy homeostasis and tightly coupled to cellular metabolism. However, how metabolic cues are integrated in the life cycle of LDs is unclear. In this study, we characterize the function of Ldo16 and Ldo45, two splicing isoforms of the same protein in budding yeast. We show that Ldo proteins interact with the seipin complex, which regulates contacts between LDs and the endoplasmic reticulum (ER). Moreover, we show that the levels of Ldo16 and Ldo45 depend on the growth stage of cells and that deregulation of their relative abundance alters LD morphology, protein localization, and triglyceride content. Finally, we show that absence of Ldo proteins results in defects in LD morphology and consumption by lipophagy. Our findings support a model in which Ldo proteins modulate the activity of the seipin complex, thereby affecting LD properties. Moreover, we identify ER-LD contacts as regulatory targets coupling energy storage to cellular metabolism

A genome-wide association study for allergen component sensitizations identifies allergen component–specific and allergen protein group–specific associations

Background: Allergic diseases are some of the most common diseases worldwide. Genome-wide association studies (GWASs) have been conducted to elucidate the genetic factors of allergic diseases. However, no GWASs for allergen component sensitization have been performed. Objective: We sought to detect genetic variants associated with differences in immune responsiveness against allergen components. Methods: The participants of the present study were recruited from the Tokyo Children’s Health, Illness, and Development study, and allergen component–specific IgE level at age 9 years was measured by means of allergen microarray immunoassays. We performed GWASs for allergen component sensitization against each allergen (single allergen component sensitization, number of allergen components analyzed, n = 31), as well as against allergen protein families (allergen protein group sensitization, number of protein groups analyzed, n = 16). Results: We performed GWAS on 564 participants of the Tokyo Children’s Health, Illness, and Development study and found associations between Amb a 1 sensitization and the immunoglobulin heavy-chain variable gene on chromosome 14 and between Phl p 1 sensitization and the HLA class II region on chromosome 6 (P < 5.0 × 10−8). A GWAS-significant association was also observed between the HLA class II region and profilin sensitization (P < 5.0 × 10−8). Conclusions: Our data provide the first demonstration of genetic risk for allergen component sensitization and show that this genetic risk is related to immune response genes including immunoglobulin heavy-chain variable gene and HLA