Clinical Characteristics of Paroxysmal Kinesigenic Choreoathetosis: Diagnosis, Treatment and Prognosis

The clinical characters, diagnosis and differential diagnosis of paroxysmal kinesigenic choreoathetosis （PKC）, and efficacy of the anti-epileptic drugs （AEDs） were investigated. Thirty-one patients with PKC were collected, and the clinical characters and change of EEG were analyzed. The average age of the first attack was 16.8 years old and the pinnacle was 10 to 20 years old. There were definite causes for every attack and the sudden the whole attack was always less than 1 min. movement was the most common one （92%）. Time for The attack presented with muscle tension disturbance （83.9%）, movement like dancing （16.1%）, abnormal movement of mouth and face and other symptoms （16.2%）. The attack tended to be very frequent and 71% patients were beyond once per day. The EEG examination and image scan of primary PKC were normal in most patients. Low dosage of AEDs could control the attack of 50%-77.3% patients. It was concluded that PKC was a common disease of movement disorder. The therapy by AEDs was very effective. PKC should be differentiated from epilepsy and the relationship between PKC and epilepsy needs further research.

Clinical characterization and follow-up analysis of twenty-one cases with neonatal diabetes mellitus

Objective: We summarize the clinical and follow-up data of twenty-one children with neonatal diabetes mellitus (NDM) to strengthen the understanding of NDM and provide reference for clinical diagnosis and follow-up. Methods The clinical characteristics, growth and development of twenty-one children with NDM who were diagnosed and treated in the Children's Hospital of Nanjing Medical University from January 2011 to August 2018 were retrospectively analyzed. Results The median age of diagnosis was 97 days and the follow-up period was 0.96 to 47.6 months years. At the time of new diagnosis, 7 cases were complicated with diabetic ketoacidosis and 3 cases with diabetic ketoacidosis. Seven patients had diabetic ketoacidosis (DKA) and three patients had diabetic ketosis (DK). Three cases were unclassified because of short follow-up time. Two patients are Transient neonatal diabetes mellitus (TNDM). Sixteen cases are Permanent neonatal diabetes mellitus (PNDM). Thirteen patients underwent drug-experiential treatment with a success rate of 53.8%. Twelve patients had growth and development disorders or language and motor retardation. Eleven cases were improved by genetic testing and the positive rate of gene mutation was 81.8%. There was no significant difference in treatment regimen, complications, genotype and other factors among different growth and development conditions (P > 0.05). Fisher exact probability analysis of growth and development in different treatment schemes showed that there was no significant difference (P>0.05). Conclusions Patients with KCNJ11 and ABCC8 gene mutations often have developmental disorders and sulfonylurea drugs are effective, which can improve the outcome of developmental disorders. There was no correlation between age, complications, genotype and the outcome of growth. When conditions permit, we should perfect gene detection as soon as possible to identify the type of mutation, guiding treatment and judging prognosis.

Characterization of Class 1 Integron Gene Cassettes among Clinical Bacteria Isolated from One Large Hospital in Northern China

The class 1 integron and complex gene cassettes among different species of clinical isolates in northern China were characterized in this study. 383 clinical isolates were obtained from northern China, and class 1 integrons containing gene cassettes widely distributed among gram negative clinical isolates was observed. We find that the class 1 integron showed positive correlation with multidrug resistance phenotype of gram negative bacteria. In addition, we find that isolates belonged to one species harbored different types of gene cassette arrays, while same types of gene cassette arrays were observed in different species of isolates. The diversity of gene cassette arrays among the isolates indicated the complexity of multidrug resistance in clinical isolates in northern China.

Small nucleolar RNA host gene 3 functions as a novel biomarker in liver cancer and other tumour progression

Cancer has become the most life-threatening disease in the world.Mutations in and aberrant expression of genes encoding proteins and mutations in noncoding RNAs,especially long noncoding RNAs(lncRNAs),have significant effects in human cancers.LncRNAs have no protein-coding ability but function extensively in numerous physiological and pathological processes.Small nucleolar RNA host gene 3(SNHG3)is a novel lncRNA and has been reported to be differentially expressed in various tumors,such as liver cancer,gastric cancer,and glioma.However,the interaction mechanisms for the regulation between SNHG3 and tumor progression are poorly understood.In this review,we summarize the results of SNHG3 studies in humans,animal models,and cells to underline the expression and role of SNHG3 in cancer.SNHG3 expression is upregulated in most tumors and is detrimental to patient prognosis.SNHG3 expression in lung adenocarcinoma remains controversial.Concurrently,SNHG3 affects oncogenes and tumor suppressor genes through various mechanisms,including competing endogenous RNA effects.A deeper understanding of the contribution of SNHG3 in clinical applications and tumor development may provide a new target for cancer diagnosis and treatment.

Novel mutation of the cyclin-dependent kinase 4 gene in a Chinese patient with intimal sarcoma of the pulmonary artery

The long arm of human chromosome 12 contains a region that has been found to be amplified in a number of different tumors, including osteosarcomas and soft tissue sarcomas. There are more than 5 genes located in this area such as CDK2, CDK4, WNT1, MDM2 and WNTIOb. CDK4 gene consists of eight exons, of which the start codon is located in the beginning of exon 2 and the stop codon in the a member of the Ser-Thr catalytic domain extends beginning of exon 8. CDK4 is protein kinase family and its from amino acid 6 to 295.