Down syndrome and cell-free fetal DNA in archived maternal serum

OBJECTIVE: Increased levels of cell-free fetal DNA (f-DNA) in the maternal circulation are a potential noninvasive marker for fetal Down syndrome. Our objectives were to (1) determine whether f-DNA could be quantified by using archived serum and amniotic fluid, (2) examine whether serum f-DNA levels are elevated in Down syndrome pregnancies in a case-control series matched for gestational age and duration of sample storage, and (3) determine whether f-DNA levels are elevated in the amniotic fluid of Down syndrome fetuses. STUDY DESIGN: Eleven serum and six amniotic fluid samples previously collected and stored at -20 degrees C from gravid women carrying a 47,XY,+21 fetus were each paired with five matched control samples of identical specimen type from gravid women carrying a presumed euploid male fetus. f-DNA concentration was quantified blindly by real-time polymerase chain reaction amplification for a Y-chromosome sequence. Matched rank-sum analysis and analysis of variance were used for analysis. RESULTS: The mean observed rank of 5.0 in the Down syndrome group was significantly higher than expected (P 相似文献   

Randomised controlled trial of prophylactic etamsylate: follow up at 2 years of age

AIM: To assess the role of etamsylate in reducing the risk of haemorrhagic brain damage and its consequences. DESIGN: Follow up of babies recruited into a randomised controlled trial. METHODS: A total of 334 infants born before 33 weeks gestation in France and Greece were randomly allocated within the first four hours of birth either to receive etamsylate or to act as controls. The principal outcomes in the trial were death or impairment and/or disability at the age of 2 years. RESULTS: Fifty nine children were lost to follow up. A total of 115 (34%) either died or had some impairment or disability, and 88 (26%) either died or had severe impairment or disability at 2 years of age. These outcomes did not differ significantly between the two randomised groups: relative risks and 95% confidence intervals 1.14 (0.78 to 1.4) and 1.17 (0.82 to 1.68) respectively. The findings were similar for all the prespecified subgroup analyses stratified by key prognostic factors at trial entry: country of birth, gestational age < or >or= 29 weeks, inborn or outborn, age < or >or= 1 hour, and with or without cerebral scan abnormality. CONCLUSION: These findings do not support the use of etamsylate. Other strategies need to be evaluated for the prevention of mortality and morbidity in these vulnerable infants.     

Serum allopregnanolone in women with postpartum "blues"

OBJECTIVE: To relate serum allopregnanolone and progesterone levels postpartum to maternity "blues." METHODS: Forty primiparous, healthy, married women (24-39 years of age; at least 13 years of education) who delivered healthy neonates in the Department of Obstetrics at the University of Pavia entered the present study. Blood samples were drawn at 8:30 AM on postpartum day 3 for measurements of serum allopregnanolone, progesterone, cortisol, prolactin, and estradiol. On the same day, every woman was interviewed using the Hamilton Rating Scale for Depression for psychometric testing and completed a self-administered version of the Stein Questionnaire for symptoms of the "blues." RESULTS: Eighteen of 40 women (45%) experienced maternity "blues" (12 who delivered vaginally and six who delivered by cesarean). Serum allopregnanolone levels were significantly lower in those women experiencing postpartum "blues" with respect to euthymic women (1.1 +/- 0.4 versus 2.3 +/- 1.0 nmol/L; P <.001), whereas progesterone levels did not differ significantly (11.6 +/- 5.6 versus 19.1 +/- 15.6 nmol/L; P >.058). Allopregnanolone and progesterone levels correlated significantly in euthymic women (r =.648; P =.001) but not in those with postpartum "blues" (r =.317; P =.199). There was a significant negative correlation between the Hamilton score and levels of serum allopregnanolone (r = -.62; P =.001) and progesterone (r = -.36; P =.024). CONCLUSION: Serum allopregnanolone levels were detectable postpartum and were significantly decreased in women with maternity "blues."     

Repair of pulmonary artery sling by reimplantation without cardiopulmonary bypass

A 20-month-old girl successfully underwent repair of pulmonary artery sling through a median sternotomy by division of the left pulmonary artery and its reimplantation into the main pulmonary artery without cardiopulmonary bypass or tracheal reconstruction. The patient is doing well on 18 months follow-up with unobstructed pulmonary blood flow and dramatic reduction of tracheal stenosis. Simple repair of pulmonary artery sling is feasible with good results in selected cases without tracheomalacia.     

Detection of minimal residual disease by real-time PCR can be used as a surrogate marker to evaluate the graft-versus-myeloma effect after allogeneic stem cell transplantation

Allogeneic stem cell transplantation (allo-SCT) is an effective and potentially curative treatment for some cases of multiple myeloma (MM). The curative efficacy of allo-SCT may be largely attributed to its immunological activity, the graft-versus-myeloma (GVM) effect. To evaluate the kinetics of residual myeloma cells, we analyzed the follow-up bone marrow samples of three MM patients by means of a real-time molecular assay. We identified a consistent correlation between onset of graft-versus-host disease and disease response. These data suggest that real-time molecular follow-up can be used to monitor the GVM effect and that it can be employed in the clinical setting to tailor post transplant immunomodulation.     

Pneumosinus dilatans of the maxillary sinus: a case report and review of the literature

Pneumosinus dilatans (PSD) is an abnormal dilatation of one or more of the paranasal sinuses and must be included in the differential diagnosis of expansile lesions of the sinonasal tract. The frontal and sphenoid sinuses are the most frequently involved sites. Herein, we present the case of a 30-year-old woman with a 6-year history of right nasal obstruction and pain in the right maxillary region, elicited by rapid changes in atmospheric pressure. Computed tomography (CT) detailed an abnormal expansion of the right maxillary sinus resulting from a process of hyperpneumatization with no evidence of bone erosion, leading to the diagnosis of PSD. Restoration of permanent pressure equilibrium in the right maxillary sinus and improvement in the patency of the nasal fossa were achieved by a subtotal resection of the medial wall of the maxillary sinus by an endoscopic approach. Two years later, the patient was asymptomatic, and a CT scan showed no progression of the disease.     

A phantom with tissue-like optical properties in the visible and near infrared for use in photomedicine

BACKGROUND AND OBJECTIVE: Modeling of light transport in tissue requires development of theoretical models and experimental procedures, as well as tissue-simulating phantoms. Our purpose was to develop a phantom that matches the optical characteristics of human skin in the visible and near infrared spectral range. STUDY DESIGN/MATERIALS AND METHODS: The phantom consists of a transparent silicone rubber in which Al(2)O(3) particles and a cosmetic powder are embedded. Layers with thickness as thin as 0.1 mm can be made. The optical properties of Al(2)O(3) particles and cosmetic powder, i.e., total attenuation, absorption and scattering coefficients, and phase function, have been determined in the visible and near infrared spectral range, by using direct and indirect techniques. RESULTS: By varying the concentration of scattering and absorbing particles, tissue-like layers can be produced with predictable optical properties. In particular, mixing at suitable concentration Al(2)O(3) particles and cosmetic powder with the silicone rubber, the optical properties of human skin have been simulated over a range of wavelengths from 400 to 1,000 nm. The comparison between the phantom diffuse reflectance spectrum and that of human skin, averaged over a sample of 260 patients, showed a good agreement. CONCLUSION: The proposed technique allows to produce a stable and reproducible phantom, with accurately predictable optical properties, easy to make and to handle. This phantom is a useful tool for numerous applications involving light interaction with biologic tissue.