Autoimmune Enteropathy with Severe Atrophic Gastritis and Colitis in an Adult: Proposal of a Generalized Autoimmune Disorder of the Alimentary Tract

Background: We describe the case of an adult with autoimmune enteropathy consistent with both severe atrophic gastritis accompanying antral stenosis and colitis. Methods and Results: The patient, positive for anti-intrinsic factor antibody, had intractable diarrhea and protein-losing enteropathy. In the ileum inflammatory cells were observed infiltrating the lamina propria along with villus atrophy, and similar inflammation was also found in the lamina propria of the colon and stomach, with complete loss of specialized glands. The myenteric ganglion cells of the hypertrophied muscularis propria in the stenosed antrum showed degeneration with surrounding T-lymphocyte infiltration. There were more CD8⁺ than CD4⁺ lymphocytes in the lamina propria of the stomach and colon. Conclusions: The CD8⁺ (suppressor-cytotoxic) T lymphocytes may have played an important role in the production of lesions in the stomach, small intestine, and colon, so we propose this case as an example of a generalized autoimmune disorder of the alimentary tract.     

Oral contraceptive-dependent growth of focal nodular hyperplasia

Abstract A 22 year old woman was incidentally found to have a hepatic small haemangioma-like mass, measuring 1.4 cm in diameter, by an ultrasonographic examination. The mass demonstrated no change in size or appearance for 6 months until the patient began to take oral contraceptives. Eventually, the mass increased to 2.0 cm in diameter after using oral contraceptives for 6 months. A histological examination suggested the mass to be typical focal nodular hyperplasia, and not hepatic adenoma. There was no further change in either size or appearance in the ensuing 1 year after the discontinuation of oral contraceptives.     

Ultrasonic Diagnosis of Early Breast Cancer: Clinical Significance of Gray Scale Expanded Echography

Differential diagnosis of early breast cancer was performedby various echographic display techniques such as a sensitivitygraded method, gray scale echography and the expanded echographyof two dimensional (B-scan) ultrasonography on 541 cases. Theclinical significance of gray scale expanded echography fortarget enlargement was evaluated for early breast cancer on37 cases histologically verified. Differential criteria forthis technique is reported and bio-acoustic mechanisms for theappearance of such differential points are discussed. Diagnosticaccuracy rate improved for early breast cancer below 2.0 cmin size, while the false positive rate remained the same.     

High-dose dexamethasone therapy for a 14-month-old boy with refractory idiopathic thrombocytopenic purpura

A 14-month-old boy with refractory idiopathic thrombocytopenic purpura (ITP), who was successfully treated with pulsed high-dose oral dexamethasone therapy is reported. The platelet count increased after six scheduled courses of treatment (10 mg/day × 4 days, six courses). Twenty-four months later, the platelet count remained over 10.0 × 10⁴/μL. No obvious side effects were observed during or after the therapy. This treatment could be taken into consideration not only for adults but also for young children with refractory ITP. It is effective, safe, easy to administer, patient comfort is taken into consideration, and hospitalization duration and costs are minimized.     

Stem cell transplantation in primary immunodeficiency disease patients

BACKGROUND: Primary immunodeficiency diseases (PID) are rare but have a high associated risk of death from overwhelming infection in early childhood. Stem cell transplantation (SCT) can be curative for PID, but standardized protocols for each disease have not yet been established. METHODS: Between May 1995 and May 2005, nine patients diagnosed with a PID received SCT at the Department of Pediatrics, Hokkaido University Hospital. The median age of the patients (eight boys and one girl) was 1.0 year (range: 6 months-4 years). Five patients had Wiskott-Aldrich syndrome (WAS), three had severe combined immunodeficiency (SCID), and one had X-linked hyper-IgM syndrome (X-HIGM). Four patients received bone marrow transplantation (BMT), and five received cord blood stem cell transplantation (CBSCT). All patients, including those with SCID, received a conditioning regimen: six (WAS and X-HIGM) received a myeloablative conditioning regimen, and three (SCID) received a reduced-intensity conditioning regimen. RESULTS: All the patients are alive and have stable, complete chimerism, based on a median follow-up period of 4 years. Moreover, all patients have good immune reconstitution, and none required immunoglobulin replacement therapy. Two patients had significant acute graft-versus-host disease (GVHD), and three patients had chronic GVHD. Four of the nine patients developed cytomegalovirus (CMV) infection after SCT. CONCLUSION: The transplantation procedures appear to have provided a permanent cure in nine PID patients. Early diagnosis and prompt performance of SCT with an optimal donor and conditioning regimen contributed to the favorable outcomes.     

A sex reversal infant with XX karyotype and complete male external genitalia

The unusual case of a Japanese newborn XX male is presented. Examination of chromosomes in amniotic fluid cells had shown a normal female karyotype (46,XX), but ultrasonography revealed a penis and a scrotum. The neonate had normal male external genitalia, and serum levels of luteinizing hormone follicle stimulating hormone, and testosterone were all within the normal range. High resonance chromosome analysis revealed an excess portion on the short arm of one of the X chromosoms. We examined his genomic DNA by polymerase chain reaction (PCR) and detected two Y specific regions in his genomic DNA, the sex-determining region Y (SRY) and pseudoautosomal boundary Y. Nucleotide sequencing of the PCR products of SRY indicated no mutation. These findings suggested that the translocation or insertion of an SRY region on the X chromosome led to the development of testicles and a male phenotype.