OBJECTIVE: To carry out genetic testing for a patient with 45,X/46,XY mosaicism and autism spectrum disorder (ASD). METHODS: Peripheral blood samples of the patient and his parents were collected for the extraction of genomic DNA. Trio-based whole exome sequencing and Sanger sequencing were carried out thereafter. RESULTS: The proband and his father were found to harbor a heterozygous c.4781G>A (p.Arg1594Gln) variant of the CACNA1I gene. In addition, the proband was also found to harbor a de novo c.268C>T (p.Arg90Trp) missense variant of the MTRR gene. Based on guidelines of the American College of Medical Genetics and Genomics (ACMG), the c.4781G>A (p.Arg1594Gln) variant of the CACNA1I gene was predicted to be pathogenic (PVS1, PM1, PM2, PP3), while the c.268C>T (p.Arg90Trp) variant of the MTRR gene was predicted to be of uncertain significance. CONCLUSION Variants of the CACNA1I and MTRR genes, together with the chromosomal mosaicism, may have predisposed to the susceptibility to the ASD in this patient.
Autism Spectrum Disorder/genetics* ; Genomics ; Heterozygote ; Humans ; Mosaicism ; Whole Exome Sequencing

OBJECTIVE: To analyze the pathogenic variants of the KIF1A gene and its corresponding protein structure in an autism spectrum disorder (ASD) family trio carrying harmful missense variants in the KIF1A gene. METHODS: The peripheral blood DNA of the patient and his parents was extracted and sequenced using whole exome sequencing (WES) technology and verified by Sanger sequencing. Bioinformatics software SIFT, PolyPhen-2, Mutation Taster, and CADD software were used to analyze the harmfulness and conservation of variants. The Human Brain Transcriptome (HBT) database was used to analyze the expression of the KIF1A gene in the brain. PredictProtein and SWISS-MODEL were further used to predict the secondary structure and tertiary structure of KIF1A wild-type protein and variant protein. PyMOL V2.4 was utilized to investigate the change of hydrogen bond connection after protein variant. RESULTS: The WES sequencing revealed a missense variant c.664A>C (p.Asn222His) in the child's KIF1A gene, and this variant was a de novo variant. The harmfulness prediction results suggest that this variant is harmful. By analyzing expression level of KIF1A gene in the brain. It is found that KIF1A gene widely expressed in various brain regions during embryonic development. By analyzing the variant protein structure, the missense variant of KIF1A will cause many changes in the secondary structure of protein, such as alpha-helix, beta-strand, and protein binding domain. The connection of hydrogen bond and spatial structure will also change, thereby changing the original biological function. CONCLUSION The KIF1A gene may be a risk gene for ASD.
Autism Spectrum Disorder/genetics* ; Child ; Female ; Humans ; Kinesin/genetics* ; Mutation ; Mutation, Missense ; Pregnancy ; Protein Domains ; Whole Exome Sequencing

Acute Disease ; Adolescent ; Adult ; Female ; Hexanes ; poisoning ; Humans ; Male ; Prognosis ; Young Adult

OBJECTIVETo study the sympathetic skin response (SSR) to the effects of N-hexane on autonomic nerves function in patients with chronic N-hexane poisoning.

METHODSThe subjects in present study included 30 controls and 37 cases with chronic N-hexane poisoning. Also 37 patients were divided into 3 subgroups (mild, moderate and severe poisoning) according to diagnostic criteria of occupational diseases. All subjects were examined by SSR test and nerve conduction velocity (NCV) test. All patients were reexamined by SSR and NCV every 1 ∼ 2 months. The differences in SSR parameters (latency, amplitude) among groups were observed. In the severe poisoning subgroup, the changes of SSR and NCV parameters (conduction velocity, amplitude) in different poisoning stages were observed.

RESULTSThere were significant differences in SSR latency of upper extremity among groups and the significant differences in SSR amplitude of upper and lower extremity among groups (P < 0.05). No significant differences in SSR parameters were found between the adjacent groups (P > 0.05). There were significant differences in SSR latency of upper extremity during different periods and the significant differences in SSR amplitude of upper and lower extremity during different periods among all groups (P < 0.05). The change of SSR parameters consistent with that in NCV. The longest SSR latency of upper extremity and the smallest SSR amplitudes of upper and lower extremity appears 1 - 2 months earlier than that of the smallest action potential amplitude.

CONCLUSIONThe damage of autonomic nerves induced by N-hexane increased with poisoning progresses. The damage of autonomic nerves corresponded with the damage of myelin sheath of large myelinated nerves, but which appeared 1 - 2 months earlier than the damage of axon of large myelinated nerves. SSR test may serve as a method to detect the damage of autonomic nerves function in patients with chronic N-hexane poisoning.

Adolescent ; Adult ; Autonomic Pathways ; physiopathology ; Case-Control Studies ; Female ; Galvanic Skin Response ; Hexanes ; poisoning ; Humans ; Male ; Neural Conduction ; Occupational Diseases ; physiopathology ; Skin ; innervation ; physiopathology ; Sympathetic Nervous System ; physiopathology ; Young Adult

BACKGROUND AND OBJECTIVEProton magnetic resonance spectroscopy (MRS) of the liver in vivo is in experimental phase. MRS observation on liver cancer after transcatheter arterial chemoembolization (TACE) has seldom been reported. This study was to investigate the value of MRS in assessing the metabolic changes of hepatocellular carcinoma (HCC) after TACE.

METHODSTwenty-five consecutive patients with pathologically-confirmed HCC received 1H MRS of all hepatic lesions using 1.5T whole body MR scanner before TACE and at 3-10 days after TACE. Choline-to-lipid (Cho/Lip), glucogen/glucose-to-lipid (Glu/Lip), and glytamine/glutamate-to-lipid (Glx/Lip) ratios were measured and analyzed statistically.

RESULTSThe Cho/Lip, Glu/Lip, and Glx/Lip ratios were 0.21 +/- 0.08, 0.11 +/- 0.05, 0.28 +/- 0.10 before TACE, respectively, and were 0.10 +/- 0.08, 0.07 +/- 0.07, 0.18 +/- 0.12 after TACE, respectively, with significant differences (P < 0.05).

CONCLUSIONSUsing MRS can evaluate the early metabolic responses of HCC to TACE.

Adult ; Aged ; Carcinoma, Hepatocellular ; metabolism ; therapy ; Chemoembolization, Therapeutic ; Choline ; metabolism ; Female ; Glucose ; metabolism ; Glutamic Acid ; metabolism ; Glutamine ; metabolism ; Glycogen ; metabolism ; Humans ; Lipids ; analysis ; Liver Neoplasms ; metabolism ; therapy ; Magnetic Resonance Spectroscopy ; methods ; Male ; Middle Aged

OBJECTIVETo analyze the relationship between the features of preoperative contrast-enhanced ultrasound and the differentiation of symptoms and signs for syndrome classification by traditional Chinese medicine (TCM).

METHODSEighty-two patients with malignant breast tumor were examined with contrast-enhanced ultrasound before the operation. The tumor diameter was greater than 2.0 cm in 48 cases and below 2.0 cm in 34 cases. According to the curative effect standard of TCM disorder, differentiation of symptoms and signs for classification of syndrome were performed, and the ultrasonic manifestations of different syndrome types were compared.

RESULTSIn patients with maximum tumor diameter < or = 2 cm, Chong and Ren disorder type and liver Qi stagnation type were prevalent. In those with tumor diameter of <2 cm, Zeyi liver Qi stagnation type and virtual drug junction were more common. The mass peak intensity, slope of increase, enhancement intensity index and time-intensity curve of ultrasound differed significant between different syndrome types (P<0.05).

CONCLUSIONThe preoperative ultrasound features of breast cancer are associated with the syndrome types in TCM.

Adult ; Aged ; Breast Neoplasms ; classification ; diagnostic imaging ; Contrast Media ; Diagnosis, Differential ; Female ; Humans ; Medicine, Chinese Traditional ; Middle Aged ; Preoperative Period ; Ultrasonography

Background and Objective:Proton magnetic resonance spectroscopy(MRS) of the liver in vivo is in experimental phase. MRS observation on liver cancer after transcatheter arterial chemoembolization (TACE)has seldom been reported.This study was to investigate the value of MRS in assessing the metabolic changes of hepatocellular carcinoma(HCC) after TACE.Methods:Twenty-five consecutive patients with pathologically confirmed HCC received 1 H MRS of all hepatic lesions using 1.5T whole body MR scanner before TACE and at 3-10 days after TACE.Choline-to 1ipid(Cho/Lip), glycogen/gIucose-to-lipid(Glu/Lip), and glutamine/ glutamate-to-lipid(Gix/Lip)ratios were measured and analyzed statistically.Results:The Cho/Lip,Glu/Lip,and Gix/Lip ratios were 0.21±0.08.0.11± 0.05,and 0.28±0.10 before TACE,respectively,and were 0.10±0.08,0.07±0.07,0.18±0.12 after TACE, respectively, with significant differences(P<0.05).Conclusion: Using MRS can evaluate the early metabolic responses of HCC to TACE.

Objective To explore the improvement effect of SLOT Scan technology (narrow seam exposure capture technology) and the radiography techniques on the quality of the scoliosis X-ray films in teenagers. Methods The Sonialvision Satire Ⅱ equipment of Shimadzu corporation and SLOT Scan were applied to take the radiography for 60 patients taller than 1.50 metres. All the data were collected through a continual exposure, and the images were sewn up through a seamless connec-tion software. Results Cervical, thoracic, and lumbar and sacral segments could clearly present at the same time on one X-ray film by seamless splicing, and the quality of one time radiograph was as good as one film. Conclusion As a new radiology technique, SLOT Scan can wipe off splitting arti-fact effectively and make the whole spine seamless present on one X-ray film. It helps the spinal sur-geons to observe, calculate and measure accurately. It is useful to choose the operation mode and judge the curative effect.

Objective To assess metabolic alterations in the human basal ganglia area during maturation and aging by using 2D chemical shift imaging (2D CSI) of proton magnetic resonance spectroscopy (1H-MRS). Methods Seventy healthy subjects were examined by 2D CSI. 2D CSI imaging acquisition was performed in the bilateral caudate, lentiform and thalamus. 1H-MRS was processed to determine the metabolite ratios, including NAA/Cho, NAA/Cr, Cho/Cr. Seventy healthy subjects were divided into 3 groups:20 to 39 years of age group, 40 to 59 years of age group and 60 to 87 years of age group. The three groups of healthy participants were compared. Results There was a significant decrease with aging in the NAA/Cho ratio in the bilateral lcntiform, thalamus and left caudate, and a significant decrease with aging in NAA/Cr ratio in the bilateral thalamus,right lentiform and left caudate (P<0.05), whereas the Cho/Cr ratio was significantly increased in the bilateral lentiform with aging(P<0.05). Conclusions The results of 1H-MRS show significant changes in the level of metabolites during the process of aging. This technique may play an important role in clinical studies and applications for various conditions of metabolic disorders of the human brain.

OBJECTIVETo investigate the effect and mechanism of E-leng Capsule (ELC) in preventing and treating post-operation recurrence of ovarian endometriotic cysts (OEC).

METHODSA total of 60 patients enrolled were the inpatients, who underwent cystectomy of OEC in the Gynecological Department of Guangdong Provincial Hospital of Traditional Chinese Medicine from 2002 to 2004. They were randomly assigned to two groups, the treatment group and the control group. Patients in the treatment group were administered with ELC before operation and after operation (starting from the 7th day post-operation), each for 3 months, while patients in the control group were untreated before operation and administered with Danazol from the 7th day post-operation for 3 months. Specimens of eutopic and ectopic endometrium in all patients of both groups were taken during the operation for detecting expressions of matrix metalloproteinase-9 (MMP-9) and tissue inhibitor of metalloproteinase-1 (TIMP-1) mRNA by polymerase chain reaction (PCR), and the incidence of post-operation recurrence was observed 12 months later.

RESULTSThe 12-month follow-up showed that recurrence presented in 1 patient in the treatment group (3.3%), and 6 in the control group (20.0%), showing significant difference between them (P<0.05). The expressions of TIMP-1 mRNA in eutopic and ectopic endometrium were 0.85 +/- 0.36 and 0.76 +/- 0.57 in the treatment group, and 0.71 +/- 0.33 and 0.56 +/- 0.39 in the control group, while the expressions of MMP-9 mRNA were 0.36 +/- 0.40 and 0.35 +/- 0.35 vs 0.36 +/- 0.33 and 0.72 +/- 0.59, respectively. The expression of endometrial TIMP-1 mRNA, either eutopic or ectopic, was significantly higher, and the expression of ectopic endometrial MMP-9 mRNA was lower in the treatment group than that in the control group (P<0.01).

CONCLUSIONELC can reduce the invasive ability of endometrium tissue probably by regulating the balance of MMP/TIMP, namely, increase the expression of eutopic and ectopic endometrial TIMP-1 and decrease the expression of ectopic endometrial MMP-9, and thus to achieve its preventive and therapeutic effect on recurrence of OEC.

Adult ; Capsules ; pharmacology ; therapeutic use ; Endometriosis ; complications ; drug therapy ; prevention & control ; surgery ; Endometrium ; drug effects ; metabolism ; Female ; Gene Expression Regulation ; drug effects ; Humans ; Matrix Metalloproteinase 9 ; genetics ; Ovarian Cysts ; complications ; drug therapy ; prevention & control ; surgery ; Postoperative Complications ; drug therapy ; metabolism ; prevention & control ; Secondary Prevention ; Time Factors ; Tissue Inhibitor of Metalloproteinase-1 ; genetics ; Young Adult