Clinical and genetic characteristics of children with dopa-responsive dystonia caused by tyrosine hydroxylase gene variations / 中华儿科杂志

Objective: To explore the clinical and genetic characteristics of children with dopa-responsive dystonia (DRD) caused by tyrosine hydroxylase (TH) gene variations. Methods: Clinical data of 9 children with DRD caused by TH gene variations diagnosed in the Department of Children Rehabilitation, the Third Affiliated Hospital of Zhengzhou University from January 2017 to August 2022 were retrospectively collected and analyzed, including the general conditions, clinical manifestations, laboratory tests, gene variations and follow-up data. Results: Of the 9 children with DRD caused by TH gene variations, 3 were males and 6 were females. The age at diagnosis was 12.0 (8.0, 15.0) months. The initial symptoms of the 8 severe patients were motor delay or degression. Clinical symptoms of the severe patients included motor delay (8 cases), truncal hypotonia (8 cases), limb muscle hypotonia (7 cases), hypokinesia (6 cases), decreased facial expression (4 cases), tremor (3 cases), limb dystonia (3 cases), diurnal fluctuation (2 cases), ptosis (2 cases), limb muscle hypertonia (1 case) and drooling (1 case). The initial symptom of the very severe patient was motor delay. Clinical symptoms of the very severe patient included motor delay, truncal hypotonia, oculogyric crises, status dystonicus, hypokinesia, decreased facial expression, and decreased sleep. Eleven TH gene variants were found, including 5 missense variants, 3 splice site variants, 2 nonsense variants, and 1 insertion variant, as well as 2 novel variants (c.941C>A (p.T314K), c.316_317insCGT (p.F106delinsSF)). Nine patients were followed up for 40 (29, 43) months, and no one was lost to follow-up. Seven of the 8 severe patients were treated by levodopa and benserazide hydrochloride tablets and 1 severe patient was treated by levodopa tablets. All the severe patients responded well to levodopa and benserazide hydrochloride tablets or levodopa tablets. Although the weight of the patients increased and the drug dosage was not increased, the curative effect remained stable and there was no obvious adverse reaction. One severe patient developed dyskinesia in the early stage of treatment with levodopa and benserazide hydrochloride tablets and it disappeared after oral administration of benzhexol hydrochloride tablets. Until the last follow-up, motor development of 7 severe patients returned to normal and 1 severe patient still had motor delay due to receiving levodopa and benserazide hydrochloride tablets for only 2 months. The very severe patient was extremely sensitive to levodopa and benserazide hydrochloride tablets and no improvement was observed in this patient. Conclusions: Most of the DRD caused by TH gene variations are severe form. The clinical manifestations are varied and easily misdiagnosed. Patients of the severe patients responded well to levodopa and benserazide hydrochloride tablets or levodopa tablets, and it takes a long time before full effects of treatment become established. Long-term effect is stable without increasing the drug dosage, and no obvious side effect is observed.

Clinical and genetic analyses of Joubert syndrome in children / 中国当代儿科杂志

OBJECTIVES@#To study the clinical and genetic features of Joubert syndrome (JS) in children.@*METHODS@#A retrospective analysis was performed on the clinical data, genetic data, and follow-up data of 20 children who were diagnosed with JS in the Department of Children's Rehabilitation, the Third Affiliated Hospital of Zhengzhou University, from January 2017 to July 2022.@*RESULTS@#Among the 20 children with JS, there were 11 boys and 9 girls. The common clinical manifestations were developmental delay (20 children, 100%), abnormal eye movement (19 children, 95%), and hypotonia (16 children, 80%), followed by abnormal respiratory rhythm in 5 children (25%) and unusual facies (including prominent forehead, low-set ears, and triangular mouth) in 3 children (15%), and no limb deformity was observed. All 20 children (100%) had the typical "molar tooth sign" and "midline cleft syndrome" on head images, and 6 children (30%) had abnormal eye examination results. Genetic testing was performed on 7 children and revealed 6 pathogenic genes, i.e., the CPLANE1, RPGRIP1L, MKS1, CC2D2A, CEP120, and AHI1 genes.@*CONCLUSIONS@#For children with developmental delay, especially those with abnormal eye movement and hypotonia, it is recommended to perform a head imaging examination to determine the presence or absence of "molar tooth sign" and "midline cleft syndrome", so as to screen for JS to avoid missed diagnosis and misdiagnosis. There are many pathogenic genes for JS, and whole-exome sequencing can assist in the diagnosis of JS.

Effect of rehabilitation treatment based on the ICF-CY Core Sets on activities of daily living in children with cerebral palsy: a prospective randomized controlled study / 中国当代儿科杂志

OBJECTIVE@#To study the effect of rehabilitation treatment based on the International Classification of Functioning, Disability and Health-Children and Youth Version (ICF-CY) Core Sets on activities of daily living in children with cerebral palsy.@*METHODS@#The children with cerebral palsy were divided into an observation group (@*RESULTS@#There was no significant difference in the scores of the WeeFIM and Social-Life Abilities scales between the two groups before treatment (@*CONCLUSIONS@#The rehabilitation treatment regimen for cerebral palsy based on the CF-CY Core Sets pays more attention to the influence of environmental factors in the process of rehabilitation and can effectively improve the activities of daily living of children with cerebral palsy.

Clinical Observation of Addition and Subtraction Therapy of Shenling Baizhu San to Antibiotic-associated Diarrhea with Spleen-stomach Deficiency and Cold Syndrome / 中国实验方剂学杂志

Objective:To discussed the clinical efficacy of addition and subtraction therapy of Shenling Baizhu San to antibiotic-associated diarrhea (AAD) with spleen-stomach deficiency and cold syndrome, and to investigate its effects on immune function and intestinal flora. Method:One hundred and fifteen patients were randomly divided into control group (57 cases) and observation group (58 cases) by random number table. Patients in control group got Shuangqi Ganjun Sanlian Huojun San, 2 bags/time, 2 times/days. Mengtuoshi San, 1 bag/time, 3 times/days, and they also got measures to prevent disturbance of water, electrolyte, acid-base balance and nutritional support. Based on the treatment in control group, patients in observation group also got addition and subtraction therapy of Shenling Baizhu San, 1 dose/day. The course of treatment was 7 days in both groups. Before and after treatment, scores of symptoms, intestinal secretory immunoglobulin (SIgA) levels, peripheral blood immunoglobulin A (IgA), G (IgG), M (IgM) and T lymphocyte subsets (CD3+, CD4+, CD8+and CD4+/CD8+). Detection of bacillus faccalis in feces before and after treatment and the bacteria were cultured to identify and count bifidobacterium, lactobacillus and enterococcus. In addition, diamine oxidase (DAO) and D-lactic acid levels were detected before and after treatment. Result:In rank sum test, clinical efficacy in observation group was better than that in control group (Z=2.268, PPP+, CD4+and CD4+/CD8+were higher than those in control group (P+was lower than that in control group (PPPPD-lactic acid were significantly lower than those in control group (PConclusion:Based on conventional treatment, addition and subtraction therapy of Shenling Baizhu San can alleviate symptoms, improve clinical efficacy, improve immune function, regulate intestinal flora and promote the repair of intestinal mucosal barrier in the treatment of antibiotic-associated diarrhea (AAD) with spleen-stomach deficiency and cold syndrome.

Prospective study of ketogenic diet in treatment of children with global developmental delay / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To study the effect of ketogenic diet (KD) on neurobehavioral development, emotional and social behaviors, and life ability in children with global developmental delay (GDD).</p><p><b>METHODS</b>A prospective case-control study was performed for hospitalized children with GDD, who were randomly divided into KD treatment group (n=40) and conventional treatment group (n=37). The children in both groups were given comprehensive rehabilitation training, and those in the KD treatment group were given modified Atkins diet in addition to the comprehensive rehabilitation training. The children in both groups were assessed with the Gesell Developmental Scale, Chinese version of Urban Infant-Toddler Social and Emotional Assessment (CITSEA)/Achenbach Child Behavior Checklist (CBCL), and Infants-Junior High School Students' Social Life Abilities Scale (S-M scale) before treatment and after 3, 6, and 9 months of treatment. The two groups were compared in terms of the improvements in neurobehavioral development, emotional and social behaviors, and social life ability.</p><p><b>RESULTS</b>After 3, 6, and 9 months of treatment, the KD treatment group had significantly greater improvements in the scores of the adaptive, fine motor, and language quotients of the Gesell Developmental Scale compared with the conventional treatment group (P<0.05); the KD treatment group had significantly greater improvements in CITSEA/CBCL scores than the conventional treatment group (P<0.05). The KD treatment group had a greater improvement in the score of the S-M scale after 9 months of treatment (P<0.05). During the KD treatment, 6 children experienced diarrhea and 1 experienced mild urinary stones.</p><p><b>CONCLUSIONS</b>KD can improve the neurobehavioral development and behavioral and emotional behaviors in children with GDD, and it has few adverse effects.</p>

Opportunity of forensic medical identification for simple traumatic subarachnoid hemorrhage / 复旦学报（医学版）

Objective To investigate the identification time and attention issue for simple traumatic subarachnoid hemorrhage (STSAH).Methods A total of 51 cases of STSAH from Center of Forensic Science,Siping Policy Security Bureau during 2014 to 2016 were analyzed retrospectively.Statistical methods used for sex,age,bleeding site,injury style and treatment outcome in forensic medical identification.Results In 46 cases of STSAH,high-density shadow in bleeding site narrowed gradually with regular change by CT scan,meanwhile clinical features disappeared gradually after longer treatment and was given the recognition in clinical identification.In addition,5 cases of STSAH had no obvious change 14 days after the injury confirmed by repeated CT,which were not given the recognition by forensic medical identification.Conclusions Early evaluation of injury degree in STSAH cases was carefully made to ensure the reliability of forensic medical identification;meantime false positive results could be avoided by follow-up CT scan.

Forensic data analysis on 34 death cases of medical disputes due to aortic dissecting aneurysm rupture / 复旦学报（医学版）

Objective To investigate the reasons for the death of patients,the relationship of medical disputes with their death by aortic dissecting (AD) aneurysm (known as AD) ruptures during diagnostic and therapeutic procedures and the judgement for contribute ratios.Methods A total of 34 sudden death cases due to AD were collected from 2001 to 2016 due to medical tangle and underwent forensic pathological analysis.Clinical data were checked according to the results of forensic pathology.The reasons for the death of patients and the relationship of medical disputes with their death and contribute ratios of medical disputes were analyzed according to literature reports.Results In the 34 cases,23 cases were from medical institutions at the country level,and 11 cases were from municipal medical institutions.All patients had other diseases,in whome 27 cases had definite hypertension,31 cases died of cardiac tamponade,and 3 cases of hemorrhagic shock.The pathological analysis showed that aorta cystic in the middle necrosis,coronary atherosclerosis and coronary artery stenosis (grade Ⅰ-Ⅳ).Fifteen cases had coronary and aortic atherosclerosis,and 1 case had pulmonary artery dissection.All cases were not given definite clinical diagnosis and effective treatment for AD.Therefore,there was cause-and-effect relationship between clinical procedures of misdiagnosis and mistreatment and the death of patients.Conclusions The pathogenesis of AD is complicated,and a lack of awareness in grass-roots doctors leads to the misdiagnosis and mistreatment easily primary care doctor.In medical disputes of sudden death induced by AD,clinical procedures of misdiagnosis and mistreatment lead to indirect causal relationship with the death of patients.

Effects of ginseng-spikenard heart-nourishing capsule on inactivation of C-type Kv1.4 potassium channel

This research is to explore the effects of traditional Chinese medicine Ginseng-spikenard heart-nourishing capsule on the inactivation of c-type Kv1.4 channels [Kv1.4[DELTA]N] in Xenopus laevis oocytes with two-electrode voltageclamp technique. Defolliculated oocytes [stage V-VI] were injected with transcribed cRNAs of ferret Kv1.4[DELTA]N channels. During recording, oocytes were continuously perfused with ND96 solution [control group] and solution prepared from Ginseng-spikenard heart-nourishing capsule [experimental group]. Results found that, at the command potential of +50 mV, the current of experimental group was reduced to 48.33+/-4.0% of that in control group. The inactivation time constants in control and experimental groups were 2962.56+/-175.35 ms and 304.13+/-36.22ms, respectively [P<0.05, n= 7]. The recovery time of fKv1.4[DELTA]N channel after inactivation in control group and experimental groups was 987+/-68.39 ms and 1734.15+/-98.45 ms, respectively [P<0.05, n=5]. Ginseng-spikenard heart-nourishing capsule can inhibit the Kv1.4[DELTA]N channel, which may be one of the mechanisms of underlying antiarrhythmia

Study for phagaquosonogram acquisition module based on DSP / 中国医疗器械杂志

In this paper, a phagaquosonogram acquisition, a module with TMS320C6713 as a core, and USB as communicating pattern is introduced based on VC++6.0. The structure of the module, hardware configuration, software design and the experiment of the real phagaquosonogram signal collection are presented. It is shown that the module can extract human phagaquosonogram signal reliably and availably.

Development of a portable dynamic state ECG based on DSP / 中国医疗器械杂志

The Portable dynamic state electrocardiogram collecting system is introduced by using TMS302VC5402, TLC320AD50C, liquid crystal display model, and so on. This dissertation describes the work principle of the system and uses the united algorithm based on wavelet to identify and locate the ECG characteristic waves. This system has as follows of advantages: big memory, low noise,high common mode rejection ratio, the low power consume,the long record time etc.