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Objective To explore the clinical and genetic features of McLeod syndrome caused by XK gene mutation.Methods The clinical data of a patient who came from the Affiliated Brain Hospital of Nanjing Medical University in May 2017 and diagnosed as McLeod syndrome by gene detection were analyzed.Gene analysis was also carried out in his family to confirm the result.Results Acanthocytes in peripheral blood,systemic chorea symptom,and increased serum levels of creatine kinase were observed in this patient and his brother.The proband and his brother showed half mutations.One of the proband's sister was homozygous normal.The proband's mother,one of the proband's sister and the proband's daughter showed heterozygous mutations.The family analysis accorded with X-linked recessive inheritance trait.Genetic testing for mutations in the XK gene revealed a previously unreported hemizygous single base-pair frame shift deletion at exon 3 (c.1004G＞A).Conclusions A rare phenotype of a patient with McLeod syndrome is first described in mainland of China which was discovered coincidentally during routine blood group testing and consecutively genetically con fi rmed.One novel mutation in XK gene was found in the patient.For old male patient with multiple system disorders including dyskinetic movement disorders,cardiopathy,acanthocytes and elevated serum creatine kinase,a genetic test for XK gene mutation is highly suggested to confirm the McLeod syndrome.
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Objective To investigate the function and necessity of ICU to supervise and cure the patients after comprehensive correction of facial skeletal contouring. Methods 178 patients were examined carefully and perfectly before operation to obviate taboo. After comprehensive correction of facial skeletal contouring operation, all the patients were transferred into ICU in order to be supervised and cured comprehensively. Results 26 (14. 61 %) patients had hypoxemia ( SPO2 ≤90 %),11(6. 18 %)kaliopenia (K+≤3. 5 mmol/L) and 18 (10. 11 %) hypertension. 21 patients appeared arhythmia. Among these 21 arhythmia patients, 15 (8.43 %) patients had pyknocardia (HR≥100/min), 3 (1. 69 %) atrial premature beat, 1 (0.56 %) fibrillation atrial, 2 (1. 12 %) premature ventricular contraction, 1 (0. 56 %) Ⅱ degree atrioventricular block. 8 patients had respiratory tract obstruction. 2 (1. 12 %) had hemorrhea of mandible and 1 transfused 600 ml blood. 17 (9. 55 %) patients had restlessness. 65 patients had nausea and vomitting. All patients in ICU having postoperative complications had been deal with corresponding management. There were no respiratory failure,hemorrhagic shock, cardiac arrest after operation in 178 patients. Conclusions ICU can offer timely, continuous, and systemic supervision and cure to patients after comprehensive correction of facial skeletal contouring,and reduce the postoperative emergency rate.
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ObjectiveTo identify the early predictors of refractory epilepsy (RE). MethodsAll 173 epileptic patients with correct diagnosis and reasonable treatment were enrolled. The 106 patients were classified as drug non-responsive epilepsy (DNR-EP). The remaining 63 patients were classified as drugresponsive epilepsy (DR-EP). With multiple logistic regression, the clinical characteristics between the two groups were compared to identify the early predictors of RE. ResultsMultiple logistic regression analysis demonstrated that more than 10 seizures before treatment (OR =4. 46, 95％ CI 1.60-12. 40, P =0. 004),mental retardation at early time ( OR =19. 87, 95％ CI 3. 60-109. 78, P =0. 001 ) and abnormal electroencephalogram(EEG) with epileptiform wave after treatment ( OR =7.57, 95％ CI 2. 54-22. 56,P ＜0. 01 ) were independent predictors of RE.Response to initial therapy was a protective factor of RE (OR=0.05, 95％ CI 0.018-0. 139, P＜0.01). ConclusionPatients who have many seizures before treatment, mental retardation at the early time, epileptiform abnormality in EEG after treatment and who are resistant to initial therapy are likely to develop into refractory epilepsy.
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Objective To investigate the expression of endothelin converting enzyme (ECE) mRNA in patients with acute cerebral infarction (ACI) and its clinical significance.Methods Blood samples from 40 patients with ACI (patient group) within 72 hours after the onset of ACI and 28 gender and age-matched healthy subjects (control group) were collected on admission. Plasma concentrations of endothelin-1 (ET-1) as well as the serum levels of cholesterol, triglyceride, low density lipoprotein,high density lipoprotein, apoA1, apoB, lipoprotein a and fasting plasma glucose in each sample were measured and analyzed. Additionally, semi-quantitative RT-PCR was performed to check the ECE mRNA level in the blood cells. European stroke scale (ESS) was used to evaluate ACI patients' neurological deficit on admission.Results (1) ECE mRNA could be detected in every blood sample from either patient group or control group. However, the ECE mRNA level increased significantly in the patient group compared with that in the control group (0.31?0.092 versus 0.25?0.10, t=2.46, P=0.016). (2) The plasma ET-1 concentration in patient group was also significantly higher than that of control subjects (183.27?56.63pg/ml versus 156.47?34.24 pg/ml, t=2.23, P=0.029). (3) Plasma ET-1 concentration was negatively correlated with ECE mRNA level in the control group (r=-0.452, P=0.021). However, the result in the patient group was not the same as the control group. (4) The ET-1 concentration and ECE mRNA level in the patients had histories of hypertension, diabetes mellitus and stroke were not significantly different from those in the patients without these histories. (5) No significant correlation existed between plasma ET-1 concentration and ECE mRNA level and age of the patient, ESS score, fasting plasma glucose and serum lipid. Conclusions ECE mRNA level is significantly increased in the early stage of ACI, which may be associated with the acute-phase reaction of cerebral infarction and may have deleterious effects on the development of neuronal injury. Our results suggest the protective reflection in the endothelin system of normal human body may be disturbed by the onset of ACI. The relationship between ECE mRNA level and neurological deficit degree, stroke risk factors is worthy for further study.