1.A multicenter prospective clinical study on the effectiveness and safety of terazosin in the treatment of Chinese benign prostatic hyperplasia patients
Guanghui DU ; Jun QI ; Jian SONG ; Qiang DING ; Xinghuan WANG ; Chuize KONG ; Fengshuo JIN ; Songliang CAI ; Wei ZHANG ; Zhangqun YE ; Yanqun NA
Chinese Journal of Urology 2010;31(5):343-346
Objective To evaluate the effectiveness and safety of terazosin in the treatment of Chinese benign prostatic hyperplasia (BPH) patients. Methods A multicenter prospective postmarketing observational study was conducted from June 2007 to March 2008 in 32 urologic centers.Patients were given terazosin for 4 weeks according to the routine medical care procedures following instructions. Effectiveness evaluation included the primary endpoint focusing on the changes in IPSS total score at the end of 2nd and 4th week compared with the baseline. The secondary endpoints were the changes in Qmax and QOL at the end of 4th week, diastolic and systolic blood pressures at the end of 2nd and 4th week compared with the baseline and the discontinuation rate of terazosin within the four weeks. Safety was assessed by adverse events. Results There were 1006 patients included in this study (FAS) and 992 patients (PP) completed the study. Among them, there were 344 patients having hypertension. The total IPSS score reduced from 22.32±6. 13 at baseline to 16. 98±5.92 at the end of the 2nd week and to 14.00±5. 52 at the end of the 4th week in FAS population (P<0. 01).The total IPSS score changed from 22.32±6.15 at baseline to 16. 96±5.93 at the end of the 2nd week and to 13. 95±5.52 at the end of the 4th week in the PP population (P<0.01). The efficacy rate was 26.54% at the 2-week treatment and 60.64% at the 4-week treatment, which was defined as obtaining improvement by 30% compared with the baseline. Patient's IPSS in different age groups with different prostatic hyperplasia levels and patients combined with or without 5-α reductase inhibitors were all decreased significantly(P<0.01). With 4-week treatment of terazosin, Qmax and QOL were improved significantly by 32% and 45% (P<0.01). Terazosin decreased BPH patient blood pressure with untreated or uncontrolled hypertension (P<0.05), but had little influence on normal blood pressure of those under control. The incidence of adverse reactions was low. The most common adverse event was dizziness (3.68%). At the end of the study, 960 subjects (95%) were taking drug continuously.Conclasions Terazosin can significantly improve the symptoms and quality of life in Chinese BPH patients with good safety and compliance.
2.Clinical features and genetic analysis of a patient with type 2 neurofibromatosis manifested as oculomotor nerve palsy.
Xinghuan DING ; Bo LIANG ; Tingyu LIANG ; Jingjing LI ; Fang WANG ; Enshan FENG
Chinese Journal of Medical Genetics 2023;40(7):851-855
OBJECTIVE:
To report on a rare case of Neurofibromatosis type 2 (NF2) manifesting as oculomotor nerve palsy and explore its genetic basis.
METHODS:
A patient with NF2 who had presented at Beijing Ditan Hospital Affiliated to Capital Medical University on July 10, 2021 was selected as the study subject. Cranial and spinal cord magnetic resonance imaging (MRI) was carried out on the patient and his parents. Peripheral blood samples were collected and subjected to whole exome sequencing. Candidate variant was verified by Sanger sequencing.
RESULTS:
MRI revealed bilateral vestibular Schwannomas, bilateral cavernous sinus meningiomas, popliteal neurogenic tumors, and multiple subcutaneous nodules in the patient. DNA sequencing revealed that he has harbored a de novo nonsense variant of the NF2 gene, namely c.757A>T, which has replaced a codon (AAG) encoding lysine (K) at position 253 with a stop codon (TAG). This has resulted in removal of the Merlin protein encoded by the NF2 gene from position 253 onwards. The variant was not found in public databases. Bioinformatic analysis suggested that the corresponding amino acid is highly conserved. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was rated as pathogenic (PVS1+PS2+PM2_Supporting+PP3+PP4).
CONCLUSION
The heterozygous nonsense variant c.757A>T (p.K253*) of the NF2 gene probably underlay the disease in this patient with an early onset, atypical but severe phenotype.
Male
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Humans
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Neurofibromatosis 2/genetics*
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Genes, Neurofibromatosis 2
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Oculomotor Nerve Diseases/genetics*
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Computational Biology
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Genomics
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Mutation