Protein-losing enteropathy due to secondary amyloidosis of the gastrointestinal tract

A case of a 71 year old woman who experienced weight loss, diarrhea and edema due to protein-losing enteropathy caused by amyloidosis secondary to rheumatoid arthritis is described. Amyloid deposits were found in the systemic organs, specifically in the bowel. The arterioles were massively involved within the laminae propriae and many were narrowed considerably due to amyloid deposits. Ulcerative lesions, which were accompanied with the ruptured arterioles, were also found. Lymphangiectasia was present in the submucosa, subserosa and mesenterium. The mesenteric lymphatic vessels were deposited markedly with amyloid. The principal cause of the protein loss might be related to the increased capillary permeability to plasma proteins and the exudation through an inflamed mucosa. Functional disruption of the lymphatic flow in the bowel and mesenterium might also participate in the mechanisms of the protein loss. Evidence in this study supports the theory that lymphatic disorders in some patients with gastrointestinal amyloidosis are one of the important factors in the pathogenesis of protein-losing enteropathy.     

A case of incomplete DiGeorge syndrome associated with partial monosomy 22q11.1 due to maternal 14;22 translocation

We report a boy with some clinical symptoms compatible with a diagnosis of incomplete DiGeorge syndrome. He had a dismorphic face, micrognathia, cleft palate, and heart anomalies similar to DiGeorge syndrome, but lacked aplasia of the thymus or hypoparathyroidism typical of the syndrome. High-resolution banding analysis revealed that his karyotype was 45,XY,–14,–22,+der(14)(14pter14q32.32::22q11.2122qter), the consequence of a maternal reciprocal translocation between chromosomes 14 and 22. Precise localization of the gene responsible for the present DiGeorge syndrome was assigned to subband 22q11.1.     

Association of habitual smoking and drinking with single nucleotide polymorphism (SNP) in 40 candidate genes: data from random population-based Japanese samples

Basic information on the association between lifestyle factors and candidate genes is valuable for genetic–environmental study. We screened the association of habitual smoking or drinking with polymorphism in 40 candidate genes for a total of 153 single nucleotide polymorphisms (SNPs) using a sample of 339 middle-aged, randomly selected Japanese men. Smoking and drinking statuses were elicited during questionnaire-based interviews. Genes were selected based on their possible involvement in genetic–environmental, life-style interactions and constitute the genes expressing xenobiotic metabolism enzymes, DNA repair enzymes, and other stress-related proteins. The P values of odds ratios to habitual smoking for CYP17A1, ESR1, EPHX1, GSTT2, ALDH2, NOS2A, OGG1, and SLC6A4 and those of odds ratios to habitual drinking for CYP1B1, ESR1, HSD17B3, GSTM3, COMT, ADH1C, ALDH2, NOS3, and NUDT1 were under 0.05. These variables were included in a stepwise logistic analysis in order to develop a predictive model for smoking or drinking behavior. In the final model, the only significant variables selected for smoking were OGG1, SLC6A4, EPHX1, ESR1, and CYP17A1, and for drinking, ALDH2 and NUDT1. The findings of the present study suggest that polymorphism in associated candidate genes plays a role in the habitual use of tobacco and alcohol among Japanese men.     

Serum n-3 Fatty Acids, Fish Consumption and Cancer Mortality in Six Japanese Populations in Japan and Brazil

Japanese people consume significant amounts of long chain n -3 polyunsaturated fatty acids (PUFAs) derived from fish, but the association of PUFAs with cancer mortality has not been fully investigated. To study geographic differences in n -3 PUFAs intake, we compared serum fatty acid and dietary fish intake among various Japanese populations having different rates of cancer mortality. The subjects were 50 men from each of five regions in Japan and 47 Japanese men from Sao Paulo, Brazil. All were randomly selected and aged 40 to 49 years. Serum fatty acids were measured by gas chromatography and the frequency of fish intake was obtained by a food frequency questionnaire. Significant geographic differences in serum fatty acid levels (% of total fatty acids) and fish intake (days/4 weeks) were observed. The percentages of serum total PUFA were similar in the six regions, though there was an almost three-fold difference in n -3 PUFAs content between Brazil (3.9%) and Akita (10.9%). The frequency of total fish intake corresponded to serum n -3 PUFAs composition. The relationship between cancer mortality and serum n -3 PUFAs levels was not clear, though an inverse association between prostate cancer and serum n -3 PUFAs levels appeared to exist. The results suggest that although serum n -3 PUFAs varied significantly, the observed geographic difference did not account for the different cancer risks at the population level.     

A Pilot Study for a Randomized Controlled Trial to Prevent Gastric Cancer in High-risk Japanese Population: Study Design and Feasibility Evaluation

Observational epidemiological studies suggest that some nutrients reduce the risk of gastric cancer and that individuals with atrophic gastritis are at high risk of developing gastric cancer. One possible measure for gastric cancer prevention is therefore nutritional supplementation for the high risk group. Before recommending this strategy for the general public, however, a randomized controlled trial (RCT) is necessary. To evaluate the feasibility of an RCT, the authors conducted a pilot study using recipients of a health check-up program in a general hospital in Japan. The subjects who were asked to participate in the trial had been diagnosed as having atrophic gastritis on the basis of serum pepsinogen I <70 ng/ml and the ratio of pepsinogen I to II <3.0. They were requested to ingest double-blinded capsules containing different levels of vitamin C and β-carotene every day. Out of the 219 subjects (118 males, 101 females) who were eligible for the study and had the required pepsinogen measurement, 90 (41%) met the criteria for atrophic gastritis. Among them, 55 (61%) (35 males, 20 females) gave their informed consent to participate in the RCT. Fifty-four participants completed a 3-month course of supplementation, and all of them agreed to a 5-year supplementation period. The authors concluded that an RCT using double-blinded nutritional supplements and targeting apparently healthy individuals is feasible in an intervention study for cancer prevention in Japan.     

Optic Neuropathy Mimicking Normal Tension Glaucoma Associated with Internal Carotid Artery Hypoplasia

Enlargement (excavation) of the right optic disc was discovered in a 41-year-old woman during an examination to fit her for contact lenses. She was initially diagnosed with normal tension glaucoma (NTG) in that eye and subsequently treated with topical medication. However, Goldmann perimetry results indicated there were changes in the temporal visual field that were not typical for glaucoma. In addition, magnetic resonance angiography (MRA), three-dimensional computed tomographic angiography (3D-CT) and orbital color Doppler imaging (CDI) results revealed the presence of segmental hypoplasia and stenosis of the right cervical internal carotid artery (ICA). The patient therefore had ipsilateral coexisting ICA hypoplasia and optic neuropathy. We postulate that the visual field change in this patient was due to an ischaemic event in the optic nerve that was related to a congenital anomaly of the right cervical ICA.     

Self-reported stroke and myocardial infarction had adequate sensitivity in a population-based prospective study JPHC (Japan Public Health Center)–based Prospective Study

ObjectiveWe sought to clarify the validity of self-reported stroke and myocardial infarction (MI) among Japanese population, because information on the validity, particularly on the sensitivity, of self-reported cardiovascular disease is limited and may differ among countries.Study Design and SettingUsing the 10-year follow-up questionnaire and a stroke and MI registry in the Japan Public Health Center–based prospective Study (JPHC Study) cohort (n = 91,186), we calculated sensitivity and positive predictive values of self-reported stroke and MI incidence over 10 years.ResultsSensitivity of self-reported incident stroke was 73%, and that for MI was 82%. Positive predictive values were 57% for stroke and 43% for MI. The supplemental inclusion of self-reported angina pectoris increased the sensitivity of MI to 89%, but attenuated the positive predictive value to 18%. Sensitivity of self-reported stroke was highest for subarachnoid hemorrhage (88%), but did not differ greatly among other stroke subtypes, affected sites or size.ConclusionSelf-reported stroke and MI seem sensitive enough to use for exclusion of stroke and MI at baseline in Japanese cohort studies. However, self-report has too many false positives to be used as the only criterion for incident stroke and MI.