We report a case of ulcerative colitis (UC) after mitral valve replacement (MVR) surgery due to infective endocarditis (IE). A 59-year-old woman underwent MVR for mitral regurgitation due to IE. Six days after the surgery, melena was observed suddenly, and she received a blood transfusion. Ulcer and erosion were observed in the rectum 5 to 10 cm from the anal ring by endoscopy. We changed her antibiotic treatment and stopped warfarin potassium. Heparin sodium was started 2 days after melena. We diagnosed ulcerative colitis from the finding of the rectal lesion and biopsy. We gave mesalazine and betamethasone as treatment for UC. The patient's condition improved and her general condition stabilized. She was discharged 36 days after surgery.

Since 1998, as a method of operating on descending thoracic aortic disease, especially distal aortic disease, a simple circulatory support technique, which uses the axillary artery or the ascending aorta as the aortic inflow, and the inferior vena cava for total body retrograde perfusion of cold oxygenated blood during circulatory arrest for open proximal anastomosis has been applied. This technique has been used in 25 consecutive cases over 10 years. In this report, we evaluate the efficacy of this support technique. From our experience, an atherosclerotic lesion in the ascending aorta required selection of the femoral artery as an aortic inflow site in 7 patients. Prolonged ventilatory support was unnecessary postoperatively unless neurological sequelae supervened, and no heart or visceral organ complications were occurred recognized. The hospital mortality rate was 16%. These results suggest our technique will continue to play an important role in operations on descending thoracic aortic diseases.

We report a case of mitral active infectious endocarditis in a 15-year-old boy successfully managed by folding plasty without any prosthetic devices. He was admitted to our hospital because of high fever and general fatigue. Echocardiography revealed a vegetation of 15×18 mm attached to the anterior commissure area of the mitral valve with severe mitral regurgitation. Brain MRI showed acute brain infarction without symptoms, and enhanced computed tomography also showed multiple infarctions of the spleen and the left kidney. Staphylococcus aureus was identified in the venous blood culture. We diagnosed active mitral infectious endocarditis with multiple systemic embolization and disseminated intravascular coagulation. After antibiotic therapy for 9 days, mitral valve surgery was performed with cardiopulmonary bypass and cold blood cardioplegia through a median sternotomy and a left atriotomy. A giant vegetation was attached to the damaged mitral leaflet of the AC to A1 and P1. The vegetation and damaged leaflet were removed by an ultrasonic aspirator and resected. Removal of the superficial vegetation with the aspiration method enabled preservation of more than half of the A1 and half of the P1 for valve repair. The anterior commissure annulus without a leaflet was reconstructed by compression suture. Furthermore, in a procedure similar to folding plasty, leaflet A1 was folded down and sutured to annulus P1, and a simple suture technique was involved to the left cut edges of leaflet A1 and P1. The postoperative course was uneventful. Two years after surgery, the patient was well with no recurrence of infection and trivial mitral regurgitation on echocardiography.

Y-graft replacement was successfully performed in a patient aged 93 years with ruptured infrarenal abdominal aortic aneurysm. The patient was in shock on arrival and underwent an emergency operation with the administration of cathecholamines. The ruptured infrarenal abdominal aortic aneurysm with a large hematoma, which was located in the area of the left common iliac artery, was 10cm in the maximum diameter. The bilateral common iliac arteries were strongly calcified and occluded. The distal end of the graft was anastomosed to the external iliac artery. The patient's postoperative course was uneventful.

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

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