Menetrier's disease in childhood is a rare form of gastropathy characterized by hypoalbuminemia, endoscopic and/or radiologic findings of hypertrophic gastric folds, and histologic findings of foveolar hyperplasia in the stomach. It tends to have a self-limited course compared to the chronic and complicated course in adult Menetrier's disease. A 7-year-old boy was referred to Incheon St. Mary's Hospital for facial edema. Physical examination on admission showed periorbital swelling, pitting edema in both legs, and epigastric tenderness. Laboratory tests on admission indicated hypoproteinemia (3.0 g/dL) with hypoalbuminemia (2.1 g/dL) and hypogammaglobulinemia. Urinalysis showed no abnormalities. The test results for anti-cytomegalovirus immunoglobulin M and cytomegalovirus PCR were negative. Stool Helicobacter pylori antigen was positive and fecal alpha1-antitrypsin clearance was 40.1 mL/day, consistent with protein-losing gastroenteropathy. Gastroduodenoscopy showed hypertrophic edematous gastric folds, erythema, and superficial erosion in the body of the stomach. The duodenum was normal. Histologic findings showed foveolar hyperplasia. His symptoms improved with conservative treatment including proton pump inhibitor from day 9 of hospitalization and resolved completely. Here we reported a case of pediatric protein-losing hypertrophic gastropathy associated with Helicobacter pylori infection.
Adult ; Agammaglobulinemia ; Child ; Cytomegalovirus ; Duodenum ; Edema ; Erythema ; Gastritis, Hypertrophic* ; Helicobacter pylori* ; Hospitalization ; Humans ; Hyperplasia ; Hypoalbuminemia ; Hypoproteinemia ; Immunoglobulin M ; Incheon ; Leg ; Male ; Physical Examination ; Polymerase Chain Reaction ; Proton Pumps ; Stomach ; Urinalysis

BACKGROUND: Autosomal-dominant brachydactyly type E is a congenital abnormality characterized by small hands and feet, which is a consequence of shortened metacarpals and metatarsals. We recently encountered a young gentleman exhibiting shortening of 4th and 5th fingers and toes. Initially, we suspected him having pseudopseudohypoparathyroidism (PPHP) because of normal biochemical parameters, including electrolyte, Ca, P, and parathyroid hormone (PTH) levels; however, his mother and maternal grandmother had the same conditions in their hands and feet. Furthermore, his mother showed normal biochemical parameters. To the best of our knowledge, PPHP is inherited via a mutated paternal allele, owing to the paternal imprinting of GNAS (guanine nucleotide binding protein, alpha stimulating) in the renal proximal tubule. Therefore, we decided to further analyze the genetic background in this family. METHODS: Whole exome sequencing was performed using genomic DNA from the affected mother, son, and the unaffected father as a negative control. RESULTS: We selected the intersection between 45,490 variants from the mother and 45,646 variants from the son and excluded 27,512 overlapping variants identified from the father. By excluding homogenous and compound heterozygous variants and removing all previously reported variants, 147 variants were identified to be shared by the mother and son. Variants that had least proximities among species were excluded and finally 23 variants remained. CONCLUSION: Among them, we identified a defect in parathyroid hormone like hormone (PTHLH), encoding the PTH-related protein, to be disease-causative. Herein, we report a family affected with brachydactyly type E2 caused by a novel PTHLH mutation, which was confused with PPHP with unclassical genetic penetrance.
Alleles ; Brachydactyly* ; Carrier Proteins ; Congenital Abnormalities ; DNA ; Exome ; Fathers ; Fingers ; Foot ; Genetic Background ; Grandparents ; Hand ; Humans ; Metacarpal Bones ; Metatarsal Bones ; Mothers ; Parathyroid Hormone ; Parathyroid Hormone-Related Protein ; Penetrance ; Pseudopseudohypoparathyroidism* ; Toes

Cancer is one of the leading causes of death worldwide and the number of cancer patients is expected to continuously increase in the future. Traditional cancer therapies focus on inhibiting cancer growth while largely ignoring the contribution of the immune system in eliminating cancer cells. Recently, better understanding of immunological mechanisms pertaining to cancer progress has led to development of several immunotherapies, which revolutionized cancer treatment. Nonetheless, only a small proportion of cancer patients respond to immunotherapy and maintain a durable response. Among multiple factors contributing to the variability of immunotherapy response rates, commensal microbiota inhabiting patients have been identified as one of the most critical factors determining the success of immunotherapy. The functional diversity of microbiota differentially affects the host immune system and controls the efficacy of immunotherapy in individual cancer patients. Moreover, clinical studies have demonstrated that changing the gut microbiota composition by fecal microbiota transplantation in patients who failed a previous immunotherapy converts them to responders of the same therapy. Consequently, both academic and industrial researchers are putting extensive efforts to identify and develop specific bacteria or bacteria mixtures for cancer immunotherapy. In this review, we will summarize the immunological roles of commensal microbiota in cancer treatment and give specific examples of bacteria that show anticancer effect when administered as a monotherapy or as an adjuvant agent for immunotherapy. We will also list ongoing clinical trials testing the anticancer effect of commensal bacteria.

While phosphodiesterase type 5 inhibitors have been used for erectile dysfunction with acceptable safety profile, they can induce orthostatic hypotension in patients taking antihypertensive drugs with blood pressure lowering effect. This study evaluated the hemodynamic effects of 100 mg mirodenafil in hypertensive patients taking an amlodipine. Thirteen hypertensive patients who were taking 5 or 10 mg of amlodipine once daily participated in a randomized, double-blind, placebo-controlled, crossover study. A single oral dose of mirodenafil 100 mg or placebo was administered at 4.5 hour after administration of amlodipine. The maximal change in systolic and diastolic blood pressure (ΔmaxSBP and ΔmaxDBP) and pulse rate (ΔmaxPR) were compared between mirodenafil and placebo periods. Twelve patients completed this study and were included analysis. The values of ΔmaxPR in standing and supine position were significantly greater in the mirodenafil period (13.25±7.12 and 11.17±4.86 beats/minute) when compared to the placebo (8.50±4.72 and 6.58±3.90 beats/minute). The ΔmaxSBP and ΔmaxDBP in standing position appeared to be lower in the mirodenafil period, but they were not statistically different from those in the placebo period (ΔmaxSBP = -7.42±5.6 vs -4.42±5.37 mmHg and ΔmaxDBP = -7.17±5.72 vs -3.50±3.37 mmHg). Both ΔmaxSBP and ΔmaxDBP in standing and supine position were not significantly different between mirodenafil and placebo. This study demonstrated that mirodenafil exerted minimal hemodynamic effects in the patients taking amlodipine, that is unlikely associated with a clinically significant hypotensive event.
Amlodipine* ; Antihypertensive Agents ; Blood Pressure ; Cross-Over Studies ; Erectile Dysfunction ; Heart Rate ; Hemodynamics* ; Humans ; Hypotension, Orthostatic ; Male ; Phosphodiesterase 5 Inhibitors ; Posture ; Supine Position

BACKGROUND: Specific immunoglobulin E (IgE) sensitization to staphylococcal enterotoxin (SE) has been recently considered to be related to allergic disease, including asthma. Despite studies on specific IgE (sIgE) to SE and its relationship to asthma diagnosis and severity, the association of sIgE to SE with airway hyperresponsiveness (AHR) remains unclear. METHODS: We enrolled 81 asthma patients admitted to the Severance Hospital in Korea from March 1, 2013, to February 28, 2015 and retrospectively reviewed the electronic medical records of the enrolled subjects. The serum levels of sIgE to SE (A/B) of all subjects was measured using the ImmunoCAP 250 (Phadia) system with SE-sIgE positive defined as >0.10 kU/mL. RESULTS: The SE-sIgE level was not significantly correlated with asthma severity (forced expiratory volume in 1 second [FEV₁], FEV₁/forced vital capacity, sputum eosinophils, and serum eosinophils), whereas the SE-sIgE level in patients with positive AHR (mean±standard error of the mean, 0.606±0.273 kU/mL) was significantly higher than that in patients with negative AHR (0.062±0.015 kU/mL, p=0.034). In regression analysis, SE sensitization (sIgE to SE ≥0.010 kU/mL) was a significant risk factor for AHR, after adjustment for age, sex, FEV₁, and sputum eosinophils (odds ratio, 7.090; 95% confidence interval, 1.180–42.600; p=0.032). Prevalence of SE sensitization was higher in patients with allergic rhinitis and non-atopic asthma patients, as compared to patients without allergic rhinitis and atopic asthma patients, respectively, but without statistical significance. CONCLUSION: SE sensitization is significantly associated with AHR.
Asthma* ; Diagnosis ; Electronic Health Records ; Enterotoxins* ; Eosinophils ; Humans ; Immunoglobulin E* ; Immunoglobulins* ; Korea ; Prevalence ; Retrospective Studies ; Rhinitis, Allergic ; Risk Factors ; Sputum ; Staphylococcus ; Vital Capacity