Between January 1981 and December 1996, we performed valve replacement in 281 patients using bileaflet prosthetic valves in mitral and/or tricuspid positions. Thrombosed valve were seen in 10 patients (7 in mitral, 3 in tricuspid positions). In 5 patients, coumadin had been stopped for several reasons (pacemaker implantation, melena, drug allergy), but in the other 5 patients, anticoagulation was within the therapeutic range at the time of presentation. For thrombolytic therapy urokinase or tissue plasminogen activator were used. The treatment was successful in 5 patients (4 mitral, 1 tricuspid), and unsuccessful in 5 patients (3 mitral, 2 tricuspid). Three of the 5 unsuccessful patients were treated surgically (3 with re-mitral valve replacement, 1 with thrombectomy). Prompt surgical treatment can be used as the first line of therapy for thrombosed valves. Thrombolytic therapy may be useful in some cases of bileaflet valve thrombosis without critical hemodynamic collapse. Doppler echocardiographic assessment of increasing peak velocity and pressure half time is useful for detecting thrombosed valves.

BACKGROUNDMethylmalonic aciduria (MMA) is the most frequent disease of organic aciduria in China. Various biochemical strategies are followed for the prenatal diagnosis of MMA. However, since fetuses affected by MMA have decreased excretion of methylmalonic acid, the difficulties of prenatal biochemical diagnosis are obvious. Gas chromatography mass spectrometry (GC/MS) and tandem mass spectrometry (ESI/MS/MS) have allowed us to identify the disease in affected fetuses. The aim of this study was to determine the value of analysis of organic acids and total homocysteine in amniotic fluid in prenatal diagnosis of MMA.

METHODSThe clinical diagnoses and outcomes of nine probands with MMA and the prenatal diagnoses based on biochemical analysis of nine fetuses at risk for MMA were investigated. Amniotic fluid samples from pregnancies at risk for MMA and metabolically normal pregnancies were obtained at 16 - 24 weeks of gestation. Methylmalonic acid and methylcitric acid were measured by GC/MS, propionylcarnitine was analyzed by ESI/MS/MS, and total homocysteine was determined by fluorescence polarization immunoassay.

RESULTSIn two pregnancies, high levels of methylmalonic acid, methylcitric acid, propionylcarnitine, and total homocysteine indicated combined MMA and homocysteinemia in the fetuses. One of the mothers continued pregnancy and received cobalamin supplement as prenatal treatment, and the other terminated her pregnancy. In one pregnancy, significantly elevated levels of methylmalonic acid, methylcitric acid, and propionylcarnitine, and normal level of total homocysteine was found indicating isolated MMA in the fetus; abortion was performed on this case. In the other six pregnancies, all the levels of the above mentioned metabolites were normal suggesting that the fetuses were not affected by MMA. The diagnoses were confirmed after delivery by testing urinary organic acids and plasma total homocysteine.

CONCLUSIONSThe metabolic abnormalities of MMA occur early in gestation. The level of total homocysteine in amniotic fluid may be an additional indicator of fetal combined MMA and homocysteinemia. Determination of total homocysteine level in amniotic fluid may become a convenient and reliable method for prenatal diagnosis of the disease.

Amniotic Fluid ; chemistry ; Carnitine ; analogs & derivatives ; analysis ; Citrates ; analysis ; Female ; Gas Chromatography-Mass Spectrometry ; Homocysteine ; analysis ; blood ; Humans ; Male ; Methylmalonic Acid ; urine ; Pregnancy ; Prenatal Diagnosis ; methods ; Spectrometry, Mass, Electrospray Ionization

From June 1998 to May 2007, 9566 urine samples were collected from patients with psychomotor deficits, seizures, vomiting and unconsciousness in Peking University First Hospital. Their urine organic acids profiles were analysed using gas chromatography - mass spectrometry (GCMS), GCMS solution and Inborn Errors of Metabolism Screening System software. In all patients, blood acylcarnitines were analysed using tandem mass spectrometry. One hundred and sixty-eight patients (1.76%) with organic acidurias were detected. Among them, 116 (116/ 168, 69.0%) had methylmalonic aciduria, 63 (54.3%) of these 116 patients had methylmalonic aciduria combined with homocysteinemia. Sixteen (9.5%) of those patients detected with organic acidurias had propionic aciduria, and 15 (8.9%) had multiple carboxylase deficiency. Seven (4.2%) had glutaric aciduria type 1. After dietary treatment, medicine and rehabilitation, clinical improvements were observed in more than half of the patients. Twenty-eight of the 168 patients (16.7%) recovered and led a normal life. The method of urine organic acid analysis by gas chromatography - mass spectrometry and blood acylcarnitines analysis by tandem mass spectrometry have been established and applied successfully in China, namely Beijing, Shanghai, Wuhan and Guangzhou. The prognoses of Chinese patients with organic acidurias have also improved significantly.
Child ; Child, Preschool ; China ; Humans ; Infant ; Infant, Newborn ; Metabolic Diseases ; urine ; Methylmalonic Acid ; urine ; Multiple Acyl Coenzyme A Dehydrogenase Deficiency ; urine ; Propionic Acidemia ; urine

BACKGROUND/AIMS:: While the occurrence of multiple whitish flat elevated lesions (MWFL) was first reported in 2007, no studies on MWFL have been published to date. The present retrospective observational study aimed to clarify the endoscopic findings and clinicopathological features of MWFL. METHODS:: Subjects were consecutive patients who underwent upper gastrointestinal endoscopy as part of routine screening between April 2014 and March 2015. The conventional white-light, non-magnifying and magnifying narrow-band images were reviewed. Clinical features were compared between patients with and without MWFL. RESULTS:: The conventional endoscopic findings of MWFL include multiple whitish, flat, and slightly elevated lesions of various sizes, mainly located in the gastric body and fundus. Narrow-band imaging enhanced the contrast of MWFL and background mucosa, and magnifying narrow-band imaging depicted a uniformly long, narrow, and elliptical marginal crypt epithelium with an unclear microvascular pattern. Histopathological findings revealed hyperplastic changes of the foveolar epithelium, and parietal cell protrusions and oxyntic gland dilatations were observed in the fundic glands, without any intestinal metaplasia. The rate of acid-reducing drug use was significantly higher in patients with MWFL than in those without (100% [13/13] vs. 53.7% [88/164], p < 0.001). CONCLUSIONS:: The present study indicated a relationship between the presence and endoscopic features of MWFL and history of acidreducing drug use.
Dilatation ; Endoscopy, Gastrointestinal ; Epithelium ; Humans ; Mass Screening ; Metaplasia ; Mucous Membrane ; Observational Study ; Polyps* ; Rabeprazole ; Retrospective Studies ; Stomach*

Background/Aims: The objective of this study was to elucidate the histological structure of the absent microsurface patterns (MSPs) that were visualized by magnifying endoscopy with narrow-band imaging (M-NBI). Methods: The study included consecutive gastric epithelial neoplasias for which M-NBI findings and histological findings could be compared on a one-to-one basis. The lesions were classified as absent MSPs and present MSPs based on the findings obtained using M-NBI. Of the histopathological findings for each lesion that corresponded to M-NBI findings, crypt opening densities, crypt lengths, crypt opening diameters, intercrypt distances, and crypt angles were measured and compared. Results: Thirty-six lesions were included in the analysis; of these, 17 lesions exhibited absent MSP and 19 lesions exhibited present MSP. Comparing the histological measurements for absent MSPs vs. present MSPs, median crypt opening density was 0.9 crypt openings/mm vs. 4.8 crypt openings/mm (p<0.001), respectively. The median crypt length, median crypt opening diameter, median intercrypt distance, and median crypt angle were 80.0 μm vs. 160 μm (p<0.001), 40.0 μm vs. 44.2 μm (p=0.09), 572.5 μm vs. 166.7 μm (p<0.001), and 21.6 degrees vs. 15.5 degrees (p<0.001), respectively. Conclusions Histological findings showed that lesions exhibiting absent MSPs had lower crypt opening density, shorter crypt length, greater intercrypt distance, and larger crypt angle.

Background/Aims: The objective of this study was to elucidate the histological structure of the absent microsurface patterns (MSPs) that were visualized by magnifying endoscopy with narrow-band imaging (M-NBI). Methods: The study included consecutive gastric epithelial neoplasias for which M-NBI findings and histological findings could be compared on a one-to-one basis. The lesions were classified as absent MSPs and present MSPs based on the findings obtained using M-NBI. Of the histopathological findings for each lesion that corresponded to M-NBI findings, crypt opening densities, crypt lengths, crypt opening diameters, intercrypt distances, and crypt angles were measured and compared. Results: Thirty-six lesions were included in the analysis; of these, 17 lesions exhibited absent MSP and 19 lesions exhibited present MSP. Comparing the histological measurements for absent MSPs vs. present MSPs, median crypt opening density was 0.9 crypt openings/mm vs. 4.8 crypt openings/mm (p<0.001), respectively. The median crypt length, median crypt opening diameter, median intercrypt distance, and median crypt angle were 80.0 μm vs. 160 μm (p<0.001), 40.0 μm vs. 44.2 μm (p=0.09), 572.5 μm vs. 166.7 μm (p<0.001), and 21.6 degrees vs. 15.5 degrees (p<0.001), respectively. Conclusions Histological findings showed that lesions exhibiting absent MSPs had lower crypt opening density, shorter crypt length, greater intercrypt distance, and larger crypt angle.

OBJECTIVETo investigate the clinical and neurodevelopmental profiles of patients with biotinidase deficiency and to determine the efficacy of current therapy with respect to outcome.

METHODSSix patients aged from 3 months to 14 years with biotinidase deficiency were confirmed by urinary organic acid analysis with gas chromatography/mass spectrometry (GC/MS) and biotinidase assay on dried blood spots. Biotin was supplemented individually (10-40 mg/d). Their clinical features, laboratory findings, and treatment regimen were reviewed.

RESULTSAll the 6 patients presented with some extent of neurological abnormalities and dermatological lesions. Cases 1 - 3 had poor feeding, vomiting, seizures, mental retardation, and lethargy onset from their early infancy, with varied degree of anemia, ketosis, acidosis, and hypoglycemia. Case 2 exhibited eczema and dermatitis from his age of 7 months. Case 4 displayed motor deficit and ataxia after 6 months of age, and generalized pustular psoriasis when he was 8 months old. Cases 5 and 6 gradually showed muscle weakness and paraplegia at the age of 7 years and 5 years, respectively. Inflammatory demyelination changes of cervical cord were evident on magnetic resonance imaging in these two patients. Case 6 had progressive optic atrophy, eczema and alopecia. Remarkable elevations of urinary lactate, pyruvate, 3-OH-propionate, methylcitrate, propionylglycine, 3-OH-isovalerate, 3-methylcrontonylglycine were confirmed in cases 1, 2, 3 and 5. Slight increase of urinary lactate, pyruvate, and 3-methylcrontonylglycine was observed in cases 4 and 6. Biotinidase activities assayed on dried blood spots from all the patients were below 0.1 pmol/(min.3 mm) Biotin supplementation for all the patients, except for case 3 who was not treated, resulted in pronounced and rapid clinical and biochemical improvement. Cases 4 and 6 had residual neurological damage comprising ataxia and motor handicap of legs, due to prolonged disease course.

CONCLUSIONSBiotinidase deficiency intensively impairs nervous system and skin in the affected patients. Urinary organic acid analysis and blood biotinidase assay are crucial to the diagnosis. Early diagnosis and biotin supplementation can contribute significantly to the improvement of prognosis.

Adolescent ; Biotin ; administration & dosage ; therapeutic use ; Biotinidase Deficiency ; diagnosis ; drug therapy ; urine ; Child ; Child, Preschool ; Gas Chromatography-Mass Spectrometry ; Humans ; Infant ; Male ; Treatment Outcome

The prevalence of joint diseases in Japan is increasing yearly and it causes the need of nursing care and reduces quality of life. Therefore, there is an urgent need for the development of approaches to prevent and treat the diseases. In the present study, we investigated the effective, healthy food material focusing on the metabolism of joint cartilage. Ampelopsis glandulosa (A. g. ) extract improved exacerbation of hyaluronic acid metabolism and NFκB nuclear translocation caused by inflammatory cytokines, and it suppressed the onset of collagen-induced arthritis in mice. Moreover, intake of the drink containing A. g. extract for three months improved discomfort, pain, and bending angle of knee joint in activities of daily living. These results suggest that A. g. extract improves hyaluronic acid metabolism of joint cartilage, and it is expected to prevent and improve joint disease by long-term intake of the drink containing A. g. extract.

Mouthwash is used to support brushing because it is distributed throughout the oral cavity. In this study, we examined the efficacy of a mixture of three hot water extracts (from Hordeum vulgare L, Apocynum venetum L, and Brasenia schreberi J. F. Gmel) for the purpose of developing an effective mouthwash. The mixture suppressed enhanced tumor necrosis factor α and matrix metalloproteinase 3 gene expression by Porphyromonas gingivalis lipopolysaccharide stimulation in human gingival fibroblasts. Furthermore, human studies using a mouthwash containing the plant extracts (MW) improved gingival index and bleeding on probing in the gum, and reduced the concentration of methyl mercaptan, which causes bad breath, in the mouth. These findings suggest that continued use of MW has positive effects on gingival inflammation and halitosis, and is useful for maintaining oral health.