肝脏铁超负荷是铜蓝蛋白缺乏症新的临床类型

Background &Aims: Aceruloplasminemia is a novel hereditary iron overload disease caused by a mutation in the ceruloplasmin gene and characterized by a complete deficiency of serum ceruloplasmin and iron accumulation in the liver and brain. Methods: We herein studied a novel clinical type of aceruloplasminemia in which a low amount of ceruloplasmin was detected in the serum of a patient. The patient presented with an asymptomatic hepatic iron overload, retinal degeneration, and diabetes mellitus. Magnetic resonance imaging of the liver and basal ganglia showed T2-hypointensity signals associated with parenchy-mal iron accumulation because of an absence of the ferroxidase activity in ceruloplasmin. Results: A gene analysis showed a novel G969S mutation in the ceruloplasmin gene. A biochemical analysis of the patients’serum and a biogenesis study of G969S mutant ceruloplasmin using mammalian cell culture system resulted in the synthesis and secretion of only apoceruloplasmin without any ferroxidase activity. Conclusions: This novel clinical type of aceruloplasminemia should therefore be considered in the differential diagnosis of unexplained hemochromatosis, which is associated with a decrease in the serum ceruloplasmin level.

正常妊娠脉波速率的变化及其在预测妊娠期高血压疾病中的价值:一项纵向研究

Objective:We longitudinally examined the changes of brachial to ankle distensibility using pulse wave velocity (PWV)-throughout pregnancy and its difference between normal pregnancy and pregnancy-induced hypertension (PIH) groups. Study design:One hundred and eighty-three pregnant women were included in this study. The PWV examinations were performed in a longitudinal way during the first,second,and third trimesters of pregnancy,and immediately and 1 month after delivery. Results:In normal pregnancies,the PWV significantly decreased at the second trimester,increased from the third trimester through immediately after delivery,and decreased again at 1 month after delivery. In PIH patients,it increased in proportion to the progression of gestation. Conclusion:We monitored the longitudinal changes in PWV and constructed a PWV normogram during pregnancy. The predictive value of PWV and blood pressure for PIH was higher than that of blood pressure alone,suggesting the usefulness of measuring PWV to predict PIH.

在吸取卵泡时测量卵巢内动脉的搏动指数和阻力指数评价卵子质量的有用性

Objective: To examine the correlation between the pulsatility and resistance indices (PI and RI) of the intraovarian artery on the day of follicle aspiration and the oocyte quality, intrafollicular oxidative stress, and luteinization. Pulsatility index and RI on the day of hCG administration also were measured. Design: Prospective study. Setting: Obstetrics and gynecology department of a university medical school in Japan. Patient(s): Thirty- five patients in an IVF- ET program. Intervention(s): The PI and RI of the intraovarian artery were measured by transvaginal color ultrasonographic pulsed wave Doppler on the day of hCG administration and the day of follicle aspiration. Follicular fluids and the granulosa cells were collected at follicle aspiration. Main Outcome Measure(s): The PI and RI of the intraovarian artery blood flowon the day of hCG administration and of follicle aspiration, as well as the rate of development of mature oocytes, follicular fluid steroid levels, and the incidence of apoptosis in the granulosa cells. Result(s): The PI and RI on the day of follicle aspiration were correlated positively with the rate of mature oocytes retrieved (PI: r = 0.429; RI: r = 0.348), were correlated negatively with the incidence of apoptotic mural (PI: r =- 0.383; RI: r =- 0.459) and cumulus (PI: r = - 0.378; RI: r =- 0.469) granulosa cells, and were negatively correlated with the concentration of P in the follicular fluid (PI: r =- 0.429; RI: r =- 0.359). The PI and RI on the day of hCG administration were negatively correlated only with the total number of retrieved oocytes (PI: r =- 0.393; RI: r =- 0.374). Conclusion(s): The PI and RI of the intraovarian artery blood flow measured on the day of follicle aspiration may be good indicators of the follicle luteinization and oxidation as well as of oocyte quality.

卵巢囊肿切除术对残余卵巢组织排卵功能的影响

Background: Whether the surgery for benign ovarian disease affect ovulatory function on residual ovarian tissue has not yet been established. Methods: We investigated the post-operative function of residual ovaries in 62 patients who underwent laparoscopic ovarian cystectomy or abdominal ovarian cystectomy. Results: The results based on an average of 7.9 monitored ovulatory cycles after surgery showed that 53% of patients did not have natural ovulation from the diseased ovary. The number of developing follicles after ovulation-induction treatments was significantly less in the diseased ovary than in the healthy ovary. However, in 13 of 24 women who became pregnant after surgery, ovulation occurred in the diseased ovary. Although a reduction in maturation of follicles was suggested after cystectomy, some women became pregnant after ovulation from the diseased ovary. Conclusion: Our results suggest that careful attention should be given to preventing post-operative adhesion in the diseased and surgically managed ovary in cases that undergo cystectomy.

努南综合征和急性进行性肥厚性心肌病患儿PTPN11基因中一个新的突变

A male infant with clinical features of Noonan syndrome and rapidly progressiv e hypertrophic cardiomyopathy is reported. He manifested severe heart failure an d failure to thrive. Administration of propranolol and cibenzoline improved vent ricular outflow tract obstruction, leading to catch-up growth. Genetic analysis of the patient revealed a novel missense mutation in the PTPN11 gene. Conclusio n:This is the first description of a patient with a Gln510Glu mutation in the pr otein-tyrosine phosphatase, non-receptor type 11 gene. This specific mutation may be associated with a rapidly progressive hypertrophic cardiomyopathy.

利用超声内镜引导的细针抽吸法对胰腺癌和局灶性胰腺炎进行鉴别诊断

Despite advances in diagnostic imaging techniques, the differentiation between pancreatic cancer and focal pancreatitis remains difficult. This study evaluated the effectiveness of EUS-guided FNA in the differential diagnosis between pancreatic cancer and focal pancreatitis, with particular reference to detection of the K-ras point mutation. The study included 62 consecutive patients with pancreatic ductal cancer and 15 patients with focal pancreatitis demonstrated as a pancreatic mass lesion by EUS. Sensitivity, specificity, overall accuracy, positive predictive value, and negative predictive value of cytopathologic diagnosis were 82%, 100%, 86%, 100%, and 58%, respectively. Sensitivity, specificity, overall accuracy, positive predictive value, and negative predictive value of histopathologic diagnosis were 44%, 100%, 55%, 100%, and 32%, respectively. The K-ras point mutation was found in 74%of pancreatic cancers and 0%of focal pancreatitis lesions. No complication of EUS-guided FNA was observed. EUS-guided FNA is useful for the differential diagnosis of pancreatic mass lesions caused by pancreatic cancer and focal pancreatitis. Analysis for the K-ras point mutation in specimens obtained by EUS-guided FNA may enhance diagnostic accuracy in indeterminate cases.