An 80-year-old man felt a loss of strength and sharp pain in both lower limbs while playing gate-ball, consulted a nearby doctor, and was followed up. Because the sharp pains in both lower limbs became aggravated the next day, he was given a previously prescribed medication. Both femoral pulses were absent and acute arterial obstruction of the lower limbs was suspected. A contrast-enhanced CT scan showed a thrombosed infrarenal abdominal aortic aneurysm with a maximum transverse diameter of 37 mm, and both external iliac arteries were contrast imaged by collateral circulation pathways. We diagnosed acute thrombosis of an abdominal aortic aneurysm, and was urgently transported to our hospital. We classified his lower limbs as Balas grade III and TASC classification grade IIb and Rutherford classification grade IIb. He exhibited no abdominal symptoms and since we confirmed the blood flow of his lower limbs, we decided to perform revascularization. An extra-anatomical bypass (axillo-bifemoral bypass) was conducted because he had dementia, and was old. After the operation, myonephropathic metabolic syndrome (MNMS) did not develop, and the patient was discharged on foot on the 16th postoperative day. Acute thrombosis of an abdominal aortic aneurysm is a rare disease. Because the ischemic area widens, often causing serious MNMS after the revascularization, it has a poor prognosis. Here, we report a case in which one such patient was rescued.

A study was conducted to clarify training ability in the recovery phase after coronary artery bypass graft surgery (CABG) . Thirty-one patients who underwent CABG were divided into four groups according to the degree of revascularization and graft patency: complete revascularization with graft patency (group A), complete revascularization without graft patency (group B), incomplete revascularization with graft patency (group C) and incomplete revascularization without graft patency (group D) . In all patients, exercise training was started one month after CABG and continued for one month. Treadmill exercise testing was performed at three points during the clinical course (one month before CABG, one month after CABG and at the end of exercise training) . Functional aerobic impairment (FAT), myocardial aerobic impairment (MAT), peripheral circulatory impairment (PCI) and electrocardiogram were measured at these points. The results obtained were as follows:
1) FAI was improved significantly after CABG as compared with before CABG in groups A and C, and was also improved significantly after exercise training as compared with before training in groups A and C. The degree of improvement in FAI in group A was larger than in group C.
2) Althought MAT was improved significantly after CABG as compared with before CABG in groups A and C, it was improved significantly after exercise training as compared with before training only in group A.
3) PCI remained unchanged before and after CABG in all groups. However, it was improved significantly after training as compared with before training in groups A and C.
4) The number of patients with a positive finding in the exercise test was reduced by CABG in all groups, and was decreased by training only in group A. However, CABG produced a significant decrease in groups A, B and C.
In conclusion, the present findings suggest that while graft patency is probably a major factor, the degree of revascularization may play only a subsidiary role in determining trainability soon after CABG.

A study was conducted to clarify the effect of hyperoxia (HO) on exercise tolerance andhemodynamics in patients with ischemic heart disease (IHD) . The subjects were 10 patients with serious IHD who showed ischemic ST depression during low-intensity exercise testing. In all subjects, cardiopulmonary exercise testing (CPX) was performed using two types of inhalation : normoxia (NO) and HO (O₂: 60%, N₂: 40%) . Heart rate (HR), blood pressure (BP), rating of perceived exertion (RPE), elapsed exercise duration and pressure rate product (PRP) were measured, and ECG was recorded during CPX according to the Bruce protocol. The peak oxygen uptake (VO₂peak) was calculated using the appropriate formula. These data were compared between the NO and HO groups, and the following results were obtained.
ST depressions on ECG, BP, HR and PRP after 20 min of rest showed no changes under NO. The other hand, only ST depression was improved after 20 min of rest under HO. The exercise duration in HO group was longer than in the NO group, and the VO₂peak in the HO group was higher than in the NO group. However, peak RPE showed no significant difference between the HO and NO groups. The incidence of ST depression as an endpoint of CPX showed no significant difference between the two groups. BP, HR and PRP at the CPX endpoint showed no significant differences between the HO and NO groups. In patients whose exercise duration was prolonged beyond the mean value by HO, peak HR and PRP were increased significantly. However, this tendency was not seen in patients whose exercise was prolonged for less than the mean value.
In conclusion, these results suggest that an increase in the oxygen supply to peripheral working muscles may play an important role in increasing exercise tolerance under HO in IHD patients.

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