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Objective:To report the clinical manifestation and genetic characteristics of a case of de novo Huntington′s disease due to paternal intermediate alleles. Methods:Clinical data and imaging features of a middle-aged female, who complained of unstable walking without positive family history and was admitted to Xuanwu Hospital, Capital Medical University on September 20, 2022, were retrospectively analyzed. The serum samples of the patient and her parents were used to screen HTT gene dynamic mutation in accordance with the principle of informed consent and voluntary. And the relevant literatures were reviewed. Results:This is a 38-year-old female with progressive course, who presented as ataxia, involuntary movement at the end of extremities, dystonia, and cognitive impairment. Imaging results showed atrophy of bilateral caudate nuclei, as well as decreased glucose metabolism of bilateral caudate nuclei, putamen and partial cortex. Genetic testing showed the abnormal expansion of polymorphic trinucleotide (CAG) repeats in HTT gene and confirmed the diagnosis of Huntington′s disease. The CAG repeat length of the patient was 17/47 (pathopoiesis), of the father was 17/35 (intermediate alleles), and of the mother was 17/17 (normal). Conclusions:Paternal intermediate alleles may cause the first case of Huntington′s disease in a family. Importantly, HTT gene screening should be performed for the patient and parents when the diagnosis of Huntington′s disease is clinically possible despite negative family history, to prevent the misdiagnosis.
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Objective:To investigate the prediction value of observed to expected lung area to head circumference ratio (o/e LHR), measured at different gestational age with various methods, on indication for extracorporeal membrane oxygenation (ECMO) in fetuses with isolated left-sided congenital diaphragmatic hernia (CDH).Methods:Clinical data of 40 neonates who were diagnosed with left-sided CDH and treated in Guangzhou Women and Children's Medical Center were retrospectively collected from January 2017 to May 2021. The o/e LHRs were prenatally calculated using maximum diameter and tracing method at 22-24 and 31-33 weeks of gestation. According to whether the neonates had indications for ECMO after birth or not, they were divided into ECMO ( n=12) or non-ECMO group ( n=28). Differences in the o/e LHR and general situations between the two groups were analyzed using C hi-square test, independent sample t-test, and non-parametric Mann-Whitney U test. Binary logistic regression was used to analyze the influencing factors for ECMO requirement and receiver operating characteristic (ROC) curve was used to evaluate the value of o/e LHR in predicting the indication for ECMO. Results:Both maximum diameter and tracing method suggested that the o/e LHR at 31-33 gestational weeks was lower than that at 22-24 gestational weeks [maximun diameter method: 40.4 (32.9-51.5) vs 45.1 (36.3-53.4), Z=－2.48, P=0.013; tracing method: 38.6 (33.2-47.6) vs 44.1 (35.9-51.7), Z=－3.29, P=0.001]. There was no statistical difference in o/e LHR detected at the same gestational weeks between the two methods (both P>0.05). Binary logistic regression showed that o/e LHR measured at 31-33 gestational weeks using maximum diameter method was an independent protective factor for ECMO requirement ( OR=0.873, 95% CI: 0.790-0.965, P=0.008). ROC curve analysis showed that the area under the curve for evaluating the predictive value of o/e LHR for ECMO requirement was 0.830 with the sensitivity of 83.3% and the specificity of 71.4% when the cut-off value of o/e LHR at 31-33 gestational weeks was 38.195 measured by maximum diameter method. Conclusions:The o/e LHR measured at 31-33 weeks is lower than that at 22-24 weeks of gestation by both methods. The o/e LHR measured by maximum diameter method at 31-33 weeks of gestation may be useful for predicting the ECMO indication after birth but requiring comprehensive evaluation of clinical conditions due to its insufficient predicting power.
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Parkinson′s disease (PD) is the second most common neurodegenerative disease following Alzheimer′s disease. The non-motor symptoms of PD have attracted increasing attention. The occurrence of abnormal blood pressure is related to many factors, including aging, PD related autonomic nerve dysfunction, and drugs for PD treatment,including levodopa, dopamine receptor agonists. Abnormal blood pressure severely limits the clinical use of anti-PD drugs. In order to better understand the relationship between anti-PD drugs and blood pressure in patients with PD. This article summarizes the manifestations of abnormal blood pressure, and analyzes the correlation between anti-PD drugs and blood pressure, summarizes the possible mechanisms of how anti-PD drugs affects the blood pressure in PD.
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Objective To study the effect of multi-disciplinary team (MDT) management on the outcome in neonates with omphalocele.Method A retrospective non-randomized controlled clinical study was conducted.Neonates who were diagnosed as omphalocele and admitted to the surgical neonatal intensive care unit of the Guangzhou Women and Children Medical Center from December 2010 to December 2017 were collected.Because MDT was established in December 2014,infants were assigned into non-MDT group and MDT group according to their dates of admission.The characteristics and outcomes between non-MDT group and MDT group were compared using x2,t-test or rank-sum test.Multivariate analysis was performed by Logistic regression.Result A total of 91 neonates were included in the study,50 were in non-MDT group and 41 were in MDT group.The mortality in MDT group (2.4％,1/41) was lower than that in non-MDT group (18.0％,9/50),the difference was statistically significant (P ＜ 0.05).The median time of mechanical ventilation of giant omphalocele in non-MDT group (18.3 hours) was longer than that in MDT group (41.7 hours),the difference was also statistically significant (P ＜ 0.05).After adjusting for the associated confounding risk factors,the risk of death in non-MDT group was 54 times higher than that in MDTgroup (OR=54.19,95％CI2.64 ～1 113.49,P＜0.05).Conclusion There was significant association between the MDT management and the decreased risk of death of omphalocele.