Traumatic diaphragmatic hernia

Five cases of traumatic diaphragmatic hernia were reported and 495 cases reported in Japan were reviewed. Analysis of cases of hernia following blunt trauma in the present study provided a simple classification of fissure of the diaphragm, i.e., "tension type (indirect type)" and "impact type (direct type)". In the former type, the fissure occurs in the central tendon or its vicinity in the diaphragm as a result of distortion of the bony thorax without direct force on the diaphragm, while in the latter type, the fissure occurs in the diaphragm close to the struck bony thorax as a result of blunt force on the bony thorax to which the diaphragm is attached.     

A case of diffuse plane normolipemic xanthomatosis associated with pancytopenia and monoclonal gammopathy

We report a case of diffuse plane normolipemic xanthomatosis (DPNX) which showed poorly demarcated, uncommon, yellow macules symmetrically distributed on the nape, axillae and inguinal folds accompanied by severe, persistent itching. Histopathological and ultrastructural studies of skin biopsy specimens revealed the existence of some foamy cells and the deposition of neutral fat in the upper papillary dermis. Laboratory investigations and bone marrow aspirate smears showed that our patient had myelodysplastic syndrome (MDS) associated with pancytopenia and monoclonal gammopathy of undetermined significance. Because our patient had neither a malignant hematological disorder nor a severe systemic disease, monoclonal gammopathy might explain the pathogenesis of DPNX in the present case.     

Amicrobial pustulosis associated with IgA nephropathy and Sjögren's syndrome

Amicrobial pustulosis is a rare clinical entity characterized by a relapsing pustular eruption, primarily involving the skin folds. We describe a case of amicrobial pustulosis associated with autoimmune diseases (APAD). The patient suffered from IgA nephropathy and Sj?gren's syndrome. Skin symptoms were alleviated dramatically after corticosteroid pulse therapy and tonsillectomy.     

Association of aldehyde dehydrogenase with inheritance of NIDDM

Summary To investigate the influence of the mitochondrial aldehyde dehydrogenase 2 (ALDH2) genotype on the clinical features of diabetes, 212 Japanese patients with non-insulin-dependent diabetes mellitus (NIDDM) (154 males and 58 females aged 17–83 years; mean age 58.2 years) were investigated. Genotyping of ALDH2 was performed by the polymerase chain reaction — restriction fragment length polymorphism (PCR-RFLP) method. The pattern of inheritance of diabetes and various clinical parameters was compared between active and inactive ALDH2 groups. Of the 212 subjects, 120 had active ALDH2 and 92 had inactive ALDH2. The percentage of patients with a diabetic mother was higher in the inactive ALDH2 group (32.6%) than in the active ALDH2 group (19.2%) (p<0.05). The prevalence of proliferative retinopathy was lower in the inactive ALDH2 group than in the active ALDH2 group (p<0.05). However, other clinical parameters showed no difference. We conclude that maternal inheritance of diabetes was common in the inactive ALDH2 group. The finding is suggestive of a relationship between alcohol intolerance and inheritance of diabetes. We speculate that the interaction between mitochondrial DNA and ALDH2 inactivity causes an increase of mitochondrial DNA mutations or deletions, thereby inducing the maternal inheritance of diabetes. The relationship of the ALDH2 genotype with proliferative retinopathy is interesting, because it resembles that of chlorpropamide alcohol flushing with severe diabetic retinopathy. The interaction of aldehyde dehydrogenase isoenzymes might have an aetiological role, since aldehyde dehydrogenase 1 plays an important part in oxidation of retinal to retinoic acid. However, the number of affected patients with proliferative retinopathy was small, hence, our result should be considered as a preliminary finding.Abbreviations CPAF Chlorpropamide alcohol flushing - ALDH2 aldehyde dehydrogenase 2 - ALDH aldehyde dehydrogenase - mtDNA mitochondrial DNA - PCR polymerase chain reaction - RFLP restriction fragment length polymorphism     

High-dimensional and large-scale phenotyping of yeast mutants

One of the most powerful techniques for attributing functions to genes in uni- and multicellular organisms is comprehensive analysis of mutant traits. In this study, systematic and quantitative analyses of mutant traits are achieved in the budding yeast Saccharomyces cerevisiae by investigating morphological phenotypes. Analysis of fluorescent microscopic images of triple-stained cells makes it possible to treat morphological variations as quantitative traits. Deletion of nearly half of the yeast genes not essential for growth affects these morphological traits. Similar morphological phenotypes are caused by deletions of functionally related genes, enabling a functional assignment of a locus to a specific cellular pathway. The high-dimensional phenotypic analysis of defined yeast mutant strains provides another step toward attributing gene function to all of the genes in the yeast genome.     

Effect of menstrual cycle and gender on ventilatory and heart rate responses at the onset of exercise

To clarify the luteal-follicular and male–female differences in ventilatory and heart rate responses at the onset of exercise, seven women and seven men performed voluntary exercise and passive movement for 20 s (brief voluntary exercise and brief passive movement) and voluntary exercise for 3 min (long voluntary exercise) in a sitting position. Voluntary exercise consisted of alternate flexion-extensions of both lower legs with a weight corresponding to about 2.5% of the subjects' body mass attached to each ankle, at a frequency of about 60 times min^–1. Passive movement was carried out without weights by experimenters pulling ropes attached to both of the subjects' ankles, in the same way as voluntary exercise. During these exercises and movements, minute inspiratory ventilation (_I) and heart rate (HR) were continuously measured by breath-by-breath and beat-to-beat techniques. We calculated relative changes of _I and HR (_I and HR). Additionally, we averaged _I and HR obtained during the exercise and movement for each subject, and performed a correlation analysis between the averaged _I and HR. It was clarified that: (1) _I and HR in the follicular phase were almost equal to those in the luteal phase; (2) there were no significant male–female differences in these parameters; (3) significant positive correlations were found in both genders only during brief voluntary exercise. We conclude that ventilatory and HR responses at the onset of voluntary exercise and passive movement are not affected by the menstrual cycle or gender.     

Nicotine induces human neutrophils to produce IL-8 through the generation of peroxynitrite and subsequent activation of NF-kappaB

Leukocytosis in tobacco smokers has been well recognized; however, the exact cause has not been elucidated. To test the hypothesis that tobacco nicotine stimulates neutrophils in the respiratory tract to produce IL-8, which causes neutrophilia in vivo, we examined whether nicotine induces neutrophil-IL-8 production in vitro; the causative role of NF-kappaB in its production, in association with the possible production of reactive oxygen intermediates that activate NF-kappaB; and the nicotinic acetylcholine receptors (nAChRs) involved in IL-8 production. Nicotine stimulated neutrophils to produce IL-8 in both time- and concentration-dependent manners with a 50% effective concentration of 1.89 mM. A degradation of IkappaB-alpha/beta proteins and an activity of NF-kappaB p65 and p50 were enhanced following nicotine treatment. The synthesis of superoxide and the oxidation of dihydrorhodamine 123 (DHR) were also enhanced. The NOS inhibitor, nomega-Nitro-l-arginine methyl ester, prevented nicotine-induced IL-8 production, with an entire abrogation of DHR oxidation, IkappaB degradation, and NF-kappaB activity. Neutrophils spontaneously produced NO whose production was not increased, but rather decreased by nicotine stimulation, suggesting that superoxide, produced by nicotine, generates peroxynitrite by reacting with preformed NO, which enhances the NF-kappaB activity, thereby producing IL-8. The nAChRs seemed to be involved in IL-8 production. In smokers, blood IL-8 levels were significantly higher than those in nonsmokers. In conclusion, nicotine stimulates neutrophil-IL-8 production via nAChR by generating peroxynitrite and subsequent NF-kappaB activation, and the IL-8 appears to contribute to leukocytosis in tobacco smokers.     

Pancreatic-type mixed acinar-endocrine carcinoma with alpha-fetoprotein production arising from the stomach: a report of an extremely rare case

An extremely rare case of mixed acinar-endocrine carcinoma (MAEC) arising from the stomach in a 56-year-old Japanese woman is herein presented. An endoscopic examination and computed tomography showed a protruding gastric tumor and a large extragastric mass, respectively. Macroscopic observation on the surgical specimen revealed the extragastric cystic mass was continued to the intragastric tumor. Histologically, the intragastric tumor consisted of large or small solid nests with acinar appearance. The cancer cells had an ovoid nuclei and polygonal cytoplasm, which was frequently amphophilic. Immunohistochemical examination showed that the cancer cells were positive for chromogranin-A, synaptophysin, alpha-amylase, lipase, and alpha-fetoprotein (AFP) but were negative for CD56, insulin, and other hormones. Ultrastructurally, the cancer cells contained 500-nm electron-lucent zymogen granules and 230-nm electron-dense neuroendocrine granules. This tumor was finally diagnosed to be MAEC with AFP production of the stomach. Although no ectopic pancreas was found in the stomach, this tumor may originate from ectopic pancreas. As another theory, it is possible for this tumor to originate from the pluripotent stem cells in the stomach. A gastric MAEC with AFP production has not been reported previously.     

Wiskott-Aldrich syndrome is an important differential diagnosis in male infants with juvenile myelomonocytic leukemialike features

A newborn presented with thrombocytopenia at birth and subsequently developed leukocytosis, monocytosis, and mild hepatomegaly. The bone marrow was normocellular with dysplasia and spontaneous granulocyte-monocyte colony formation was demonstrated. These findings fulfilled the diagnostic criteria of juvenile myelomonocytic leukemia. Then he developed atopic dermatitislike eczema, which led to the consideration of Wiskott-Aldrich syndrome (WAS). Lack of intracellular WASP expression and WASP gene mutation confirmed the diagnosis of WAS. After stem cell transplantation, he is alive in good condition with normal WASP expression. WAS should be considered as a differential diagnosis in male infants with juvenile myelomonocytic leukemialike features.