The main clinical features of tyrosinemia type 1 usually appear in the first months of life, including fever, diarrhea, vomiting, liver involvement, growth failure, and renal proximal tubulopathy with subsequent hypophosphatemic rickets. An early diagnosis is crucial in order to provide specific management and to prevent complications. Here, we report on two cases referred primarily to pediatric nephrologists for the diagnosis of “neonatal tubulopathy” and management of “X-linked hypophosphatemia (XLH),” respectively. Our aim is to emphasize that (1) even a mixed tubulopathy can reveal tyrosinemia, and (2) tyrosinemia is a classic differential diagnosis of XLH that should not be forgotten, especially in the era of the anti-FGF23 burosumab. 相似文献
Human butyrylcholinesterase is the enzyme responsible of mivacurium and succinylcholine metabolism, which may be significantly impaired when mutation Asp70Gly is found in patients. We describe a simple PCR method for the detection of this variant. Thirteen out of sixteen patients tested after prolonged apnea were positive for the presence of this mutation (50.0% homozygotes and 31.3% heterozygotes), suggesting that this test contributes to the explanation of some clinical events and to their prevention in relatives of these patients. 相似文献
The involvement of excitatory amino acid (EAA) receptors in mediation of the toxic effects of cocaine was studied in male ICR mice. Cocaine HCl (90 mg/kg, IP) induced seizures in 95% and death within 24 h in 68% (n = 135) of the animals. There was a significant correlation (r = .54) between the time to onset of convulsions and the time to death in mice which died within 30 min of injection (n = 84). Pretreatment with selected EAA receptor antagonists 15 min prior to cocaine differentially blocked cocaine toxicity. Selective N-methyl-D-aspartic acid (NMDA) receptor antagonists (MK-801, dextrorphan, CPP) decreased both the incidence of seizures and mortality. A nonselective EAA antagonist, kynurenic acid, decreased lethality in doses which did not reduce convulsions. A similar action was observed following pretreatment with the selective kainic acid/AMPA receptor antagonist, GDEE. Antagonists at EAA receptors can provide significant protection against cocaine-induced toxicity. Moreover, the data provide evidence for the involvement of both NMDA and non-NMDA receptor subtypes in aspects of cocaine toxicity. 相似文献
BACKGROUND CONTEXT: Osteoporosis is a major cause of morbidity in worldwide elderly populations. Patients may become susceptible to vertebral compression fractures (VCFs) from low-impact situations. For patients who have failed conventional, palliative medical therapy, kyphoplasty not only reduces pain associated with vertebral fractures, but also offers a minimally invasive procedure with the potential to address fracture reduction and spinal sagittal alignment. Kyphoplasty involves expanding an inflatable balloon tamp to create a cavity within a vertebral body before cement deposition. PURPOSE: To evaluate the safety and efficacy of kyphoplasty to reduce and fix painful osteoporotic VCFs. STUDY DESIGN/SETTING: A retrospective, single-arm cohort study of consecutive kyphoplasty patients treated at a single center. PATIENT SAMPLE: Three hundred sixty VCFs were treated during 254 kyphoplasty procedures on 222 osteoporotic patients (mean age, 76 years [range, 28-98]; 28% male and 72% female). OUTCOME MEASURES: Patient-reported pain ratings were examined. Cement extravasation was monitored by intraoperative fluoroscopy and on postoperative radiographs. Anterior and midline vertebral height were assessed from standing, lateral radiographs obtained preoperatively and postoperatively. The number of patients who returned with symptomatic, new fractures was monitored. Perioperative complications were recorded. Mean follow-up occurred 21 months after kyphoplasty (range, 6 months through 36 months). RESULTS: Immediate pain relief was reported by 89% of patients by the first follow-up visit. One patient experienced postoperative pain as a result of radiculopathy related to bone filler leakage into the foramen. The remaining patients had persistent pain and were diagnosed with either a new fracture or underlying degenerative disc disease. Greater than or equal to 20% restoration of lost vertebral height (anterior) was observed in 63% of fractures with an overall mean restoration of 30%, and > or = 20% restoration of lost vertebral height (midline) was detected in 69% of fractures with an overall mean restoration of 50%. In this cohort, 12% (30/254) of the patients required additional kyphoplasty procedures to treat 36 symptomatic, new adjacent and remote fractures. No device-related complications occurred. CONCLUSIONS: Kyphoplasty is a safe and effective, minimally invasive procedure for relief of pain associated with VCF. In our series we also demonstrated some restoration of vertebral height and partial correction of sagittal alignment. 相似文献
OBJECTIVES: We sought to modify the Serodia HIV-1/HIV-2 particle agglutination assay (PA), a simple and cost-effective HIV assay that is used globally for the detection of HIV antibodies, as a sensitive/less sensitive test (S/LS) to identify recently infected individuals and to estimate HIV incidence. METHODS: The Serodia PA test was modified as an S/LS test (PA-LS) by using HIV antigen-coated gelatin particles at a dilution of 1:68 and a specific diluent, and calibrated using 37 HIV clade B seroconversion panels (309 samples) from Trinidad and from a commercial source that were tested at dilution intervals from 1:10 to 1:80,000. The greatest sensitivity for correctly classifying samples from recent and established infections was determined by receiver operator curve (ROC) analysis. RESULTS: At a 1:40,000 sample dilution and a days post-seroconversion cutoff of 190 days, the PA-LS test yielded a 97% sensitivity for classifying recent and established infection samples. Furthermore, at a 1:20,000 dilution, the positive predictive value for correctly identifying recently infected individuals was 99%. The PA-LS test offers a 30-44-fold cost saving over currently available S/LS tests. CONCLUSION: A modified, low cost and simple-to-perform PA test is appropriate for use in resource-limited countries, and has exhibited excellence in distinguishing recent from established HIV infection. 相似文献
Background: Long-acting local anesthetics cause muscle damage. Moreover, long-acting local anesthetics act as uncoupler of oxidative phosphorylation in isolated mitochondria and enhance sarcoplasmic reticulum Ca2+ release. The aim of the study was to evaluate effects of perineural injections of local anesthetics on mitochondrial energetic metabolism and intracellular calcium homeostasis in vivo.
Methods: Femoral nerve block catheters were inserted in adult male Wistar rats. Rats were randomized and received seven injections (1 ml/kg) of bupivacaine, levobupivacaine, ropivacaine, or isotonic saline at 8-h intervals. Rats were killed 8 h after the last injection. Psoas muscle was quickly dissected from next to the femoral nerve. Local anesthetic concentrations in muscle were determined. Oxidative capacity was measured in saponin-skinned fibers. Oxygen consumption rates were measured, and mitochondrial adenosine triphosphate synthesis rate was determined. Enzymatic activities of mitochondrial respiratory chain complexes were evaluated. Local calcium release events (calcium sparks) were analyzed as well as sarcoplasmic reticulum calcium content in saponin-skinned fibers.
Results: Eight hours after the last injection, psoas muscle concentration of local anesthetics was less than 0.3 [mu]g/g tissue. Adenosine triphosphate synthesis and adenosine triphosphate-to-oxygen ratio were significantly decreased in the muscle of rats treated with local anesthetics. A global decrease (around 50%) in all of the enzyme activities of the respiratory chain was observed. Levobupivacaine increased the amplitude and frequency of the calcium sparks, whereas lower sarcoplasmic reticulum calcium content was shown. 相似文献