Objective:To evaluate the efficacy and safety of transcatheter arterial chemoembolization (TACE) combined with tislelizumab and tyrosine kinase inhibitor (TKI) as a conversion therapy in patients with initially unresectable hepatocellular carcinoma (HCC).Methods:The clinical data of 51 initially unresectable HCC patients admitted to the Department of Hepato-Pancreato-Biliary Surgery, the Eighth Affiliated Hospital of Guangxi Medical University from March 2022 to November 2023 were prospectively collected, including 46 males and 5 females, aged (53±11) years old. All patients received TACE combined with tislelizumab and TKI. For initially unresectable HCC patients who have successfully undergone conversion therapy, surgical resection was performed sequentially. Follow-up was conducted through regular outpatient visits or hospitalization combined with telephone contact, and the surgical conversion, relapse-free survival and adverse reactions of patients were recorded.Results:Among the 51 patients with initial unresectable HCC, there were 12 cases of stage Ib, 14 cases of stage IIa, 10 cases of stage IIb, and 15 cases of stage IIIa in Chinese liver cancer staging. The 51 patients were evaluated according to the modified solid tumor response evaluation criteria, and 15 patients had complete response, 26 had partial response, 5 had stable disease, and 5 had disease progression. The objective response rate was 80.4% (41/51), and the disease control rate was 90.2% (46/51). The conversion success rate was 49.0% (25/51), 2 patients gave up surgery, and the actual conversion rate was 45.1% (23/51). Among the 23 patients who underwent surgical resection, irregular hepatectomy was performed in 11 cases, lobectomy in 8 cases, and hemihepatectomy in 4 cases. Common treatment-related adverse events were hand-foot syndrome, hypertension, gingival bleeding, etc. Most of the drug-related adverse events were grade 1 to grade 2. A total of 10 patients (19.6%, 10/51) had grade 3 drug-related adverse events, and no grade 4 or above adverse events occurred, and no treatment-related deaths occurred. The cumulative recurrence free survival rates of 23 patients with initial unresectable HCC at 6 and 12 months after sequential hepatectomy were 100% and 94.7% respectively.Conclusion:The triple combination therapy of TACE combined with tislelizumab and TKI in the treatment of initial unresectable HCC has good clinical efficacy, and the adverse reactions are safe and controllable.

Anti-seizure medications (ASMs) are the main therapy for epilepsy.There are many kinds of ASMs with complex mechanism of action, so it is difficult for pharmacists to examine prescriptions.This paper put forward some suggestions on the indications, dosage forms/routes of administration, appropriateness of usage and dosage, combined medication and drug interaction, long-term prescription review, individual differences in pathophysiology of children, and drug selection when complicated with common epilepsy, for the reference of doctors and pharmacists.

15q11-q13 Duplication syndrome is a rare genetic disease of the nervous system, characterized by developmental retardation, intellectual impairments, hypotonia, autism, epilepsy and so on. This article reports a 33-year-old male patient, with the clinical manifestation of early-onset intractable epilepsy and mental retardation. The high-throughout whole exome sequencing showed a 10.53 Mb repeat sequence in the 15q11.2-q13.3 region, further confirming the diagnosis of 15q11-q13 duplication syndrome. The literature reports of the pathogenic mechanism, classification, typical clinical manifestation, seizure features,accessory examination and therapy of the 15q11-q13 duplication syndrome are summarized and reviewed, so as to enhance the understanding of the disease, as well as to improve the diagnosis and treatment level of the clinicians.

Nucleotide repeat expansion is one of the common causes for neurodegenerative disorders. Polyglycine diseases are a newly defined neuro- and muscle- degenerative disease spectrum characterized by CGG trinucleotide repeat expansions, generation and aggregation of aberrant polyglycine protein, and formation of intranuclear inclusions. To date, the aggregation of pathogenic polyglycine protein has been proved in fragile X-associated tremor/ataxia syndrome and neuronal intranuclear inclusion disease. In recent years, the case load of these diseases grows rapidly with the increasing awareness and developing genetic testing technologies. This article aims to systematically review the recent progress in polyglycine diseases, and probe into their pathogenic mechanisms as well as clinical concerns.

Objective:To investigate the clinical application of placental growth factor (PLGF) combined with uterine artery pulsation index in predicting early-onset preeclampsia.Methods:From March 2018 to March 2019, 69 cases of early-onset preeclampsia in the Maternal and Child Health Hospital of Jiaxing were selected as observation group, including 37 cases in mild group and 32 cases in severe group.And 58 cases of normal pregnant women in our hospital from March 2018 to March 2019 were selected as control group.The changes of plasma PLGF and uterine artery index, the changes of plasma PLGF and uterine artery index in different degrees of illness, and the diagnostic sensitivity and specificity of PLGF combined with uterine artery index were compared between the two groups.Results:The level of plasma PLGF in the observation group was (1.29±0.25)μg/L, which was lower than that in the control group[(1.70±0.34)μg/L]( t=7.816, P<0.05). The PI (1.48±0.31), RI (0.83±0.12) and S/D(2.97±0.65) of the observation group were higher than those of the control group[(0.91±0.18), (0.58±0.09) and (1.71±0.53)]( t=12.357, 13.071, 11.823, all P<0.05). The level of PLGF in the severe group was (1.13±0.27)μg/L, which was lower than that in the mild group[(1.45±0.23)μg/L]( t=5.317, P<0.05). The PI(1.71±0.36), RI(0.97±0.14) and S/D(3.45±0.71) in the severe group were higher than those in the mild group[(1.16±0.24), (0.72±0.10) and (2.43±0.57)]( t=7.556, 8.618, 6.616, all P<0.05). The diagnostic sensitivity and specificity of PLGF combined with uterine pulsation index were higher than those of PLGF and uterine pulsation index alone. Conclusion:PLGF combined with uterine pulsation index can predict the condition of early-onset preeclampsia, and the combination can improve the sensitivity and specificity.

Objective:The research analyzed the current situation and trend of health science and technology innovation in China, developed the national health and health science and technology innovation index to estimate the development of health science and technology innovation in China.Methods:The research discussed the connotation and scope of National Health Science and technology innovation, designed the national health science and technology innovation index, and developed the evaluation index system that covered various aspects including innovation resources, innovation output, innovation environment.Results:The total index and sub-index of national health science and technology innovation index from 2011 to 2017 were calculated. Suppose the base number of 2011 was 100, the value of national health science and technology innovation index in 2017 was 201.73.Conclusions:By using multi-level indicators, the indicators that reflect the basic characteristics of scientific and technological innovation can be transformed into the overall indicators that comprehensively reflect the level of scientific and technological innovation, which can be used to monitor the overall development of health scientific and technological innovation and the situation of each innovation stage.

OBJECTIVE: To explore the genetic basis for a patient with syndromic hearing loss. METHODS: Genomic DNA of the patient was extracted, for which 127 deafness-related genes were enriched with a chip. Following next generation sequencing, pathogenic loci in exonic regions were analyzed through comparison against the databases. Genotype of her fetus for the suspected site was determined by testing the amniotic fluid sample. qPCR method was applied to verify the deletion of a large fragment. RESULTS: The proband was diagnosed with Waardenburg syndrome type 2, and had harbored a novel heterozygous deletion of the exons 3 and 4 of the SOX10 gene. Her fetus was found to carry the same deletion and presented with blue eyes and deafness after birth. CONCLUSION Waardenburg syndrome type 2 due to SOX10 gene deletion may feature autosomal dominant inheritance with incomplete penetrance. The deletion of exons 3 and 4 of the SOX10 gene probably underlies the disease in this family.
Eye Color ; Female ; Hearing Loss ; Humans ; Mutation ; Pedigree ; Pregnancy ; Prenatal Diagnosis ; SOXE Transcription Factors ; genetics ; Waardenburg Syndrome

Mechanistic target of rapamycin (mTOR) pathway has been associated to various neurological diseases,including epilepsy.As a newly discovered mTOR pathway disease,DEPDC5 (dishevelled,Egl-10,and pleckstrin domain-containing protein 5) gene related epilepsy covers a range of clinical phenotypes.Mutations of DEPDC5 gene have been detected in genetic focal epilepsies,focal cortical dysplasia type Ⅱ,and sporadic focal epilepsy cases.It has been reported that hyperactivation of mTOR signaling due to the loss of function of DEPDC5 contributes to epileptogenesis,however more detailed mechanisms remain to be elucidated.DEPDC5 gene-related epilepsy together with other neurodevelopmental diseases characterized by hyperactivation of mTOR signaling has formed a disease spectrum named mTORopathies.

Objective To explore the clinical comparative value of little abdominal incision and laparoscopic treatment of large ovarian cysts.Methods A total of 31 consecutive cases of large ovarian cysts were analyzed.Two groups were made with the random number table method.Eighteen women with little abdominal incision were served as study group.The corresponding nineteen women with laparoscopic treatment were treated as control group.All the people were treated with placket suctionand helicism suture.The operation time,amount of bleeding,hospitali-zation time,cost of hospitalization and postoperative complications of the two groups were compared,and the levels of C -reactive protein and leukocyte count were also compared.Results The operation time,amount of bleeding,hospi-talization time and cost of hospitalization in the study group were (52.17 ±3.02)min,(30.09 ±1.91)mL,(5.75 ± 0.98)d and (5 272.85 ±355.21)yuan respectively,which in the control group were (72.40 ±4.45)min,(29.71 ± 0.56)mL,(5.15 ±0.31 )d and (11 825.59 ±857.71 )yuan respectively;There were no statistically significant differences in amount of bleeding and hospitalization time between the two groups(t =1.57,1.19,all P >0.05),but the operation time in the study group was less than that in the control group(t =4.51,P <0.05),and the same result of the cost of hospitalization was detected in the two groups(t =5.24,P <0.05).Conclusion In the basis of placket suctionand helicism suture,little abdominal incision surgery method is worthy of the clinical promotion with shorter operation time,more rapidly postoperative recovery and less hospitalization expense.

AIM:To investigate the pooled association between estrogen receptor α( ESRα) rs2234693 poly-morphism and prostate cancer risk .METHODS:A systematic literature search was performed to identify the related stud-ies (up to April 2014) in several online databases including PubMed , the CNKI and Wanfang online libraries .Odds ratios with 95%confidence intervals were used to calculate the strength of association in the random effect model .RESULTS:A total of 20 studies including 4 623 cases and 9 850 controls were enrolled in the final meta-analysis.The results indicated that ESRαrs2234693 polymorphism was significantly associated with prostate cancer risk (P<0.05) in a dominant genetic model.In the subgroup analysis by ethnicity , there were significant associations between ESRαrs2234693 polymorphism and prostate cancer risk in Caucasians ( P<0.05 ) , but not in Asians and Africans ( both P>0.05 ) .CONCLUSION:This meta-analysis suggests that ESRαrs2234693 polymorphism is significantly associated with prostate cancer risk , espe-cially in Caucasians .