16排CT用于腹主动脉及下肢动脉阻塞性病变的成像研究

目的探讨16排CT血管成像在腹主动脉及下肢阻塞性病变诊断中的价值.方法对26例临床疑有下肢动脉硬化、阻塞性病变患者行16排CT容积扫描及血管三维重建,其中15例接受人工血管或支架植入术.结果26例共494节段,血管重度狭窄97节段,闭塞83节段.95节段行DSA检查,仅2节段CTA与DSA分级不符.结论16排CT血管成像在评价腹主动脉及下肢动脉阻塞性病变方面与DSA结果基本一致,是一项高度准确的成像技术和非侵袭性检查方法.     

Antigen-matched donor blood in the transfusion management of patients with sickle cell disease

BACKGROUND: Alloimmunization to red cell antigens is a significant risk in chronically transfused patients with sickle cell disease. Antigen matching, by decreasing the likelihood of alloantibody development, may significantly facilitate long-term management while decreasing morbidity. STUDY DESIGN AND METHODS: The transfusion records of 86 patients who underwent chronic transfusion for sickle cell disease at a tertiary-care medical center were reviewed retrospectively to determine the efficacy of an antigen-matching program in the prevention of alloimmunization to clinically significant red cell antigens. Recipients were phenotyped and given units matched for the K, C, E, S, and Fya or Fyb antigens. RESULTS: None (0%) of the 40 patients who received antigen-matched transfusions showed any evidence of alloimmunization, while 16 (34.8%) of the 46 patients who received both antigen-matched and non-antigen-matched transfusions developed clinically significant alloantibodies. The cost was 1.8 to 1.5 times that for a standard transfusion protocol. CONCLUSION: On the basis of this experience, it is recommended that transfusion centers engaged in the management of chronically transfused sickle cell anemia patients consider providing antigen-matched units for such patients. This is recommended not only because it prevents alloimmunization but also because such a program provides additional clinical benefits to the patient that may outweigh the higher costs of the process.     

Use of the donor bladder trigone to facilitate pediatric en bloc kidney transplantation

We performed three cases of donor bladder trigone facilitated transplantation using pediatric en bloc kidneys into adult recipients. The donors were aged 11, 21, and 23 months; two of the donors were male, and the other was a female. In each case, the donor bladder was removed and the trigone was fashioned into a patch that contained both ureters, which was attached to the recipient anterior bladder wall. The recipients of the two male donor transplants healed and have normal voiding with no evidence of vesico-ureteral reflux. At 14 and 12 months, they have a creatinine of 1.2 and 1.0 mg/dL. The recipient of the female donor transplant developed a pelvic abscess, which necessitated reconstruction of the donor ureters and patch. She is now nine months with a creatinine of 1.2 mg/dL and voiding well. The use of the donor bladder trigone to facilitate pediatric en bloc transplantation can be carried out safely using the male donor urinary tract. However, the use of a female donor for this procedure may be a special circumstance requiring increased attention to sterilize the small donor introitus and avoiding devascularization of the bladder trigone that is adherent to the anterior vaginal wall.     

A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes

Missense mutations in the 3' end of the p63 gene are associated with either RHS (Rapp-Hodgkin syndrome) or AEC (Ankyloblepharon Ectodermal defects Cleft lip/palate) syndrome. These mutations give rise to mutant p63alpha protein isoforms with dominant effects towards their wild-type counterparts. Here we report four RHS/AEC-like patients with mutations (p.Gln9fsX23, p.Gln11X, p.Gln16X), that introduce premature termination codons in the N-terminal part of the p63 protein. These mutations appear to be incompatible with the current paradigms of dominant-negative/gain-of-function outcomes for other p63 mutations. Moreover it is difficult to envisage how the remaining small N-terminal polypeptide contributes to a dominant disease mechanism. Primary keratinocytes from a patient containing the p.Gln11X mutation revealed a normal and aberrant p63-related protein that was just slightly smaller than the wild-type p63. We show that the smaller p63 protein is produced by translation re-initiation at the next downstream methionine, causing truncation of a non-canonical transactivation domain in the DeltaN-specific isoforms. Interestingly, this new DeltaDeltaNp63 isoform is also present in the wild-type keratinocytes albeit in small amounts compared with the p.Gln11X patient. These data establish that the p.Gln11X-mutation does not represent a null-allele leading to haploinsufficiency, but instead gives rise to a truncated DeltaNp63 protein with dominant effects. Given the nature of other RHS/AEC-like syndrome mutations, we conclude that these mutations affect only the DeltaNp63alpha isoform and that this disruption is fundamental to explaining the clinical characteristics of these particular ectodermal dysplasia syndromes.     

一侧大脑中动脉高密度征对脑梗塞早期诊断价值的探讨

目的提高对一侧大脑中动脉高密度征的认识,探讨其在早期脑梗死诊断中的价值.方法9例患者均做了发病早期(1～6 h)CT扫描及发病后24小时CT扫描,其中男性7例,女性2例,年龄46～68岁,平均58岁,所有病例均经临床诊断.结果9例一侧大脑中动脉梗死患者回顾性CT资料分析,发现发病早期(1～6 h)CT检查均见一侧大脑中动脉高密度征,发病后24 h复查,该侧大脑中动脉血供区均呈大片状低密度灶.结论一侧大脑中动脉高密度征,结合典型的临床表现,在早期脑动脉梗死诊断中具有重要意义.     

Nocturnal Lifestyle Behaviours and Risk of Poor Sleep during Pregnancy

The extent to which lifestyle practices at night influence sleep quality in pregnant women remains unknown. This study aimed to examine whether nocturnal behaviours were associated with poor sleep during pregnancy. We performed a cross-sectional analysis of a prospective cohort of pregnant women at 18–24 gestation weeks recruited from KK Women’s and Children’s Hospital, Singapore, between 2019 and 2021. Nocturnal behaviours were assessed with questionnaires, and sleep quality was measured using the Pittsburgh Sleep Quality Index (PSQI) with a global score ≥5 indicative of poor sleep quality. Modified Poisson regression and linear regression were used to examine the association between nocturnal behaviour and sleep quality. Of 299 women, 117 (39.1%) experienced poor sleep. In the covariate-adjusted analysis, poor sleep was observed in women with nocturnal eating (risk ratio 1.51; 95% confidence interval [CI] 1.12, 2.04) and nocturnal artificial light exposure (1.63; 1.24, 2.13). Similarly, nocturnal eating (β 0.68; 95% CI 0.03, 1.32) and light exposure (1.99; 1.04, 2.94) were associated with higher PSQI score. Nocturnal physical activity and screen viewing before bedtime were not associated with sleep quality. In conclusion, reducing nocturnal eating and light exposure at night could potentially improve sleep in pregnancy.     

CT与MRI对成人型环状胰腺诊断的对比分析

目的：探讨成人型环状胰腺的计算机体层成像（computed tomography,CT）及磁共振成像（magnetic resonance imaging,MRI）表现,以提高对该病的认识。方法：回顾性分析我院6例成人型环状胰腺病例,其中3例行CT腹部平扫及增强扫描;另外3例行MRI腹部平扫及增强扫描,1例结合磁共振胰胆管成像（magnetic resonance cholangiopancreatography,MRCP）检查。详细分析每例影像学图像表现,最终诊断由2位高年资医师盲法观察,得出共同结果。结果：CT及MRI能显示环状胰腺直接征象和间接征象,6例均能显示直接征象,即胰头增大,呈环形包绕十二指肠,2例能清楚显示环状部胰管走行。间接征象包括肝内胆管扩张（2例）、胆总管扩张（3例）、胰管扩张（4例）、胰腺炎（1例）、胆囊炎（1例）。结论：CT平扫及增强检查显示成人型环状胰腺图像清晰。     

CT引导经皮穿刺治疗腰椎间盘突出症所致坐骨神经痛的疗效分析

目的 探讨CT引导下经皮穿刺治疗腰椎间盘突出症引起坐骨神经痛的疗效。方法 CT检查发现有腰椎间突出症伴明确临床体征75例,CT引导下经皮穿刺至相应椎间孔神经根处注射由得宝松、维生素B12和利我卡因组成混合药液,使药液分面到椎管内硬膜外。结果 CT引导穿刺注药成改善,9.3%治疗无效,症状无明显改善。结论 CT引导治疗腰椎间盘突出症所臻坐骨神经痛的方法是一种安全、可靠、有效且无并发症的新疗法,其无期疗效有待进一步观察。     

Pituicytoma with pleomorphism: A case report with cytological findings

Pituicytoma is a rare neoplasm, arising in the posterior pituitary or in the hypophyseal stalk, and its cytological findings have not yet been well-described. We have experienced a case of pituicytoma, which was difficult to diagnose intraoperatively, because of its cellular pleomorphism. A tumor measuring 18 mm in maximum diameter was found at the sella turcica in a Japanese woman in her forties. Both intraoperative crush cytology and histology of the resected tumor showed pleomorphic spindle or round cells, including multinucleated cells. Tumor cells were positive for TTF-1, S-100 protein, and vimentin, partially positive for glial fibrillary acidic protein and epithelial membrane antigen, and negative for synaptophysin, hormones of the anterior pituitary gland, CD34, Olig2, PAX8, and napsin A. Ki-67 labeling index was 2.0%. Tumors included in the differential diagnosis in general are pituitary adenoma, craniopharyngioma, germinoma, and metastatic tumor on the radiological standpoint, and pilocytic astrocytoma and meningioma on the cytological standpoint. However, our case was difficult to differentiate especially from high-grade glioma only by morphology, and immunohistochemistry including TTF-1 was helpful.