Objective To analyze mutations in the PTCH1 gene in a pedigree with nevoid basal cell carcinoma syndrome (NBCCS).Methods Blood samples were collected from a 58-year-old male proband with NBCCS (Ⅱ 5),his brothers (Ⅱ 1 and Ⅱ 3) and son (Ⅲ4),and 50 unrelated healthy human controls.DNA was extracted from these blood samples.PCR and direct DNA sequencing were performed to determine mutation sites in the PTCH1 gene.According to the mutation sites,allele-specific oligonucleotide primers were designed and used to confirm the pathogenic mutations in this pedigree through PCR.Results A nonsense mutation (c.2137C),which leads to the substitution of CAG by TAG with the generation of a premature termination codon (Q714X),was identified in exon 14 in one allele of the PTCH1 gene in the proband and his son,but in none of the healthy human controls.Conclusion The nonsense mutation (c.2137C ＞ T) in the PTCH1 gene may be a specific mutation causing the clinical symptoms in the patient with NBCCS.

Adolescent ; Adult ; Asian Continental Ancestry Group ; genetics ; Female ; Humans ; Male ; Middle Aged ; Pedigree ; Spinocerebellar Ataxias ; genetics ; Young Adult

OBJECTIVE: Rehemorrhage is the most severe complication of postoperative patients with spontaneous intracerebral hemorrhage. The aim of the present study was to assess independent predictors of rehemorrhage and find the possibility of preventing rehemorrhage in postoperative patients with spontaneous intracerebral hemorrhage (sICH).METHODS: Medical records of 263 postoperative patients with sICH from our Hospital were reviewed. The relationships between rehemorrhage and parameters were examined by univariate and multivariate analyses. The parameters include time from onset to surgery, hematologic paremeters, neuroimaging characteristics, level and variability of systolic blood pressure, medical histories, operation duration, and blood loss. In addition, relationship between rehemorrhage and clinical outcome were analyzed by using multivariate analyses.RESULTS: Thirty-five (13.31%) patients experienced rehemorrhage after operation. Multivariate analyses indicated that the following factors were independently associated with rehemorrhage : history of diabetes mellitus (odds ratio [OR], 2.717; 95% confidence interval [CI], 1.005–7.346; p=0.049), and midline shift (for every 1 mm increase, OR, 1.117; 95% CI, 1.029–1.214; p=0.009). Rehemorrhage was an independent risk factor of poor functional outcome (OR, 3.334; 95% CI, 1.094–10.155; p=0.034).CONCLUSION: Our finding revealed that history of diabetes mellitus and admission midline shift were possibly associated with rehemorrhage in postoperative patients with sICH.
Blood Pressure ; Case-Control Studies ; Cerebral Hemorrhage ; Diabetes Mellitus ; Humans ; Hypertension ; Medical Records ; Multivariate Analysis ; Neuroimaging ; Risk Factors

Objective: : Blood-blister aneurysms (BBAs) of the internal carotid artery (ICA) are challenging lesions with high morbidity and mortality rates. Although research on BBAs is well documented in different populations, the study of BBAs in the Tibetan population is extremely rare. This study aimed to evaluate the characteristics of BBAs and analyze the treatment modalities and long-term outcomes in the Tibetan population in comparison with the Han population. Methods: : The characteristics of patients with BBAs of the ICA from January 2009 to January 2021 at our institution were reviewed. The features of aneurysms, treatment modalities, complications, and follow-up outcomes were retrospectively analyzed. Results: : A total of 130 patients (41 Tibetan and 89 Han patients) with BBAs of the ICA who underwent treatment were enrolled. Compared with the Han group, the Tibetan group significantly demonstrated a high ratio of BBAs among ICAs (8.6%, 41/477 vs. 1.6%, 89/5563; p<0.05), a high ratio of vasospasm (34.1%, 14/41 vs. 6.7%, 6/89; p=0.001), a high risk of ischemic events (43.9%, 18/41 vs. 22.5%, 20/89; p<0.05), and a low ratio of good outcomes (modified Rankin scale, 0–2) at the 1-year follow-up (51.2%, 21/41 vs. 74.2%, 66/89; p<0.05). The multivariate regression model showed that ischemic events significantly contributed to the prediction of outcomes at 1 year. Further analysis revealed that microsurgery and vasospasm were associated with ischemic events. Conclusion : In comparison with Han patients, the Tibetan population had a high ratio of BBA occurrence, a high incidence of ischemic events, and a high ratio of poor outcomes. The endovascular approach showed more benefits in BBA patients.