A new GNPAT variant of foetal rhizomelic chondrodysplasia punctata.

Background: Rhizomelic chondrodysplasia punctata (RCDP) is a clinical entity resulting from defects of peroxisomal metabolism whose clinical phenotype is characterized by rhizomelia, calcified foci in periarticular cartilage, coronal lesions of vertebral bodies, cataracts and severe cognitive delay. Usually, survival does not exceed the first decade of life. Transmission is autosomal recessive and is related to mutations in the PEX7, GNPAT or AGPS.

Characterization of lymphocyte subsets in ascitic fluid and peripheral blood of decompensated cirrhotic patients with chronic hepatitis C and alcoholic liver disease: A pivotal study.

Hepatitis C virus and alcoholic liver disease are major causes of chronic liver diseases worldwide. Little is known about differences between chronic hepatitis C and alcoholic liver disease in terms of lymphocytes' sub-population. Aim of the present study was to compare the sub-populations of lymphocytes in both ascitic compartment and peripheral blood in patients with decompensated liver cirrhosis due to chronic hepatitis C and alcoholic liver disease.

Neurosurgical treatment of subependymal giant cell astrocytomas in tuberous sclerosis complex: a series of 44 surgical procedures in 31 patients.

Background: Subependymal giant cell astrocytomas (SEGA) are benign tumors characteristic of tuberous sclerosis complex (TSC) that may cause hydrocephalus. Various treatments are nowadays available as mTOR inhibitors or surgery. Surgery is still a valid option especially for symptomatic and larger tumors.

Reflex testing of speckled cytoplasmic patterns observed in routine ANA HEp-2 indirect immunofluorescence with a multiplex anti-synthetase dot-blot assay: a multicentric pilot study.

Immunofluorescence on HEp2-cells is the standard diagnostic assay for the detection of anti-nuclear antibodies (ANA). Cytoplasmic speckled patterns are a common finding, and are associated with various antibodies, including anti-synthetase antibodies. However, classic ENA testing generally identifies only anti-Jo-1.

Metatropic dysplasia in third trimester of pregnancy and a novel causative variant in the TRPV4 gene.

Prenatal diagnosis of skeletal dysplasias is particularly difficult for many reasons and differentiating these disorders in the prenatal period can be challenging because they are rare and many of the ultrasound findings are not necessarily pathognomonic for a specific disorder. The diagnosis is often made just after birth or exitus. The prenatal diagnosis of osteochondrodysplasias is based predominantly upon fetal ultrasound findings and it focuses substantially on the possible lethality of the disorder, without always being able to find a specific name for the disorder.

Prenatal diagnosis of X-linked adrenoleukodystrophy associated with isolated pericardial effusion.

This is the first reported case of fetal pericardial effusion in association with X-linked adrenoleukodystrophy and hypocortisolism from a nonautoimmune cause. Our hypothesis is that in experienced hands and after accurate genetic counseling, isolated pericardial effusion can constitute an indication for a severe metabolic disease.

Potential pathogenetic role of Th17, Th0, and Th2 cells in erosive and reticular oral lichen planus.

Objectives: The role of Th17 cells and associated cytokines was investigated in oral lichen planus.

Material And Methods: 14 consecutive patients with oral lichen planus were investigated. For biological studies, tissues were taken from reticular or erosive lesions and from normal oral mucosa (controls) of the same patient.

Natural killer cell deficiencies in a consecutive series of children with herpetic encephalitis.

Natural killer (NK) cells play a fundamental role in innate and early phases of adaptive immunity against viral infections, both in humans and in animal models. To date, NK cell deficiencies in patients with severe herpetic infections have been reported in single cases, and their role as predisposing factor is still controversial. Five children affected by herpetic encephalitis were consecutively admitted to the Anna Meyer Children's Hospital in Florence (Italy) between 2003 and 2005.

T cells specific for Candida albicans antigens and producing type 2 cytokines in lesional mucosa of untreated HIV-infected patients with pseudomembranous oropharyngeal candidiasis.

Factors influencing the susceptibility to mucosal candidiasis in HIV-infected patients are not clearly understood. Since in animal models of candidiasis the T helper (Th)1- or Th2-responses are protective or non-protective, respectively, this study was aimed to evaluate the cytokine profile of T-cell response to Candida albicans in the blood and lesional tissues of human immunodeficiency virus (HIV)-infected individuals, suffering, or not, from pseudomembranous oropharyngeal candidiasis (POPC), of HIV-negative women suffering from recurrent vaginal candidiasis (RVC) and of healthy controls. Peripheral blood mononuclear cells from HIV-infected and RVC patients proliferated to C.

Influence of impaired T- and B-cell compartments on efficacy of IVIg in dysimmune neuropathies.

Autoimmune mechanisms are postulated to play a role in the development and progression of dysimmune neuropathies (DN). We investigated the relation between lymphocyte number and marker expression, and disease activity in 20 patients with DN under intravenous immunoglobulins (IVIg) treatment. B- and T-lymphocyte markers were studied by flow cytometry of the expression of CD5, CD25, CD23 and CD38 markers on B cells and of CD3, CD4 and CD8 markers, respectively.

Embryonic soluble HLA-G as a marker of developmental potential in embryos.

Background: In human reproduction, embryo implantation is complex and poorly understood. At present, no single markers are used in routine treatment to assay biochemical functions of the human embryo. Soluble human leukocyte antigen-G (sHLA-G) could be considered a possible marker of embryo developmental potential.

Early postnatal doppler assessment of cerebral blood flow velocity in healthy preterm and term infants.

The aim of the present study was to generate normal reference data for anterior and middle cerebral artery blood flow velocity and resistance index in preterm and term infants during the first 8 hours of life. The study population longitudinally included 120 healthy preterm and term infants (gestational age 24 to 41 weeks), all of appropriate weight for gestational age. The following parameters were studied: peak-systolic velocity, end-diastolic velocity, mean velocity, and resistance index.

Lectin histochemistry in the human placenta of pregnancies complicated by intrauterine growth retardation based on absent or reversed diastolic flow.

The oligosaccharide distribution of the glycoconjugates was investigated in placental tissue of pregnancies complicated by intrauterine growth retardation (IUGR) with absent or reversed flow in the umbilical artery (ARED), between the 29 and the 37 weeks of pregnancy. Placentae of a gestational age-matched group of normally grown pregnancies was also selected as control group. For this purpose a battery of seven HRP-conjugated lectins was used (DBA, SBA, PNA, ConA, WGA, LTA and UEA I).

Type 1 T helper cells specific for Candida albicans antigens in peripheral blood and vaginal mucosa of women with recurrent vaginal candidiasis.

The cytokine profile of circulating and vaginal T cells specific for immunodominant mannoprotein antigens of Candida albicans was analyzed in patients with recurrent vaginal candidiasis (RVC). Peripheral blood mononuclear cells (PBMC) from patients with RVC proliferated more than those from healthy subjects and expressed higher type 1:type 2 T helper cell cytokine ratios in response to C. albicans stimulation.

Umbilical cord care: the effect of eight different cord-care regimens on cord separation time and other outcomes.

In this study we evaluate the effect of eight cord-care regimens on cord separation time and other secondary outcomes: omphalitis, sepsis, death, cord bleeding, compliance, satisfaction or dissatisfaction with regard to the type of treatment, umbilical cord colonization--in 1,535 healthy term infants. The eight cord-care regimens studied were: 70% alcohol, natural drying, salicylic sugar powder, triple dye, micronized green clay powder, colloid silver-benzyl-peroxide powder, neomycin-bacitracin powder, 1% basic fuchsine. None of the newborns developed sepsis or died and we found only sporadic cases of omphalitis.

Influence of maternal magnesium sulphate and ritodrine treatment on cerebral blood flow velocity of the preterm newborn.

Background: To evaluate the effect of antenatal tocolytic administration of magnesium sulphate and ritodrine on the cerebral blood flow velocity and on the cerebral vascular resistance of preterm newborns in the first hours of life.

Methods: Cerebral blood flow velocity, resistance index and relative vascular resistance were studied in 27 preterm infants (<34 weeks gestation) with antenatal exposure to maternal magnesium sulphate treatment and in 27 preterm infants (<34 weeks gestation) with antenatal exposure to maternal ritodrine treatment. Both antenatal magnesium sulphate or ritodrine were used for tocolysis.

Effects of low day 3 luteinizing hormone levels on in vitro fertilization treatment outcome.

In a previous study we demonstrated that women with day 3 luteinizing hormone (LH) values < 3 IU/l subjected to controlled ovarian hyperstimulation without pituitary desensitization responded with a lower number of follicles > 15 mm compared to women with a higher basal LH level. The aim of this study was to determine whether in patients with day 3 LH levels < 3 IU/l a further reduction of serum LH concentration by gonadotropin-releasing hormone (GnRH) analog impairs follicular response to follicle stimulating hormone (FSH) and treatment outcome in in vitro fertilization (IVF) cycles. For this purpose we retrospectively studied 249 consecutive women subjected to standard IVF treatment employing pituitary desensitization with buserelin and follicular stimulation with urinary highly purified FSH.

Functional and ultrastructural features of DNA-fragmented human sperm.

The functional significance of deoxyribonucleic acid (DNA) fragmentation in ejaculated human sperm is unclear. In this study the extent of DNA strand breakage in swim-up selected spermatozoa was evaluated by terminal deoxynucleotidyl transferase-mediated fluorescein-dUTP nick end labeling (TUNEL)-coupled flow cytometry and correlated with several functional and morphological sperm parameters. The extent of DNA fragmentation (mean = 11.

Placental morphometry in pregnancies complicated by intrauterine growth retardation with absent or reversed end diastolic flow in the umbilical artery.

The aim of this study was to assess any possible correlation between villous tree architecture and its vascularization, and absent or reversed end-diastolic flow velocity (ARED) in the umbilical artery. The study group included seven pregnancies complicated by IUGR (estimated fetal weight < 10th percentile) and absent end-diastolic flow velocity in the umbilical artery. A gestational-age matched group of seven normally grown pregnancies was selected as control group.

Changes in mesenteric blood flow response to feeding: conventional versus fiber-optic phototherapy.

Objective: To evaluate whether fiberoptic phototherapy influences the postprandial increase in mesenteric blood flow velocity similarly to conventional phototherapy in preterm infants.

Patients And Methods: With the use of Doppler color ultrasonography, blood flow velocity in the superior mesenteric artery was measured both preprandially and postprandially in 19 preterm infants during and after conventional phototherapy, and in 20 preterm infants during and after fiber-optic phototherapy. The mean arterial blood pressure/mean flow velocity ratio was calculated as an estimate of relative vascular resistance of the superior mesenteric artery.

Effects of indomethacin and ibuprofen on mesenteric and renal blood flow in preterm infants with patent ductus arteriosus.

Objective: To evaluate the effect of intravenous ibuprofen and indomethacin for treatment of patent ductus arteriosus (PDA) on mesenteric and renal blood flow velocity in preterm infants.

Study Design: Seventeen mechanically ventilated preterm infants (<33 weeks' gestation) with PDA received either 0.2 mg/kg indomethacin (n = 8) or 10 mg/kg ibuprofen (n = 9), infused over 15 minutes.

Serum CA-125 values on the day of oocyte retrieval are not predictive of subsequent pregnancy with in-vitro fertilization.

In the clinical management of in-vitro fertilization (IVF) patients it would be very useful to know, before the embryo transfer, whether or not there is a significant chance of pregnancy in that cycle. If low, it would be better to freeze the embryos and postpone the embryo transfer to a subsequent cycle. For this reason, a retrospective study was carried out to investigate the correlations between the serum CA-125 values before embryo transfer and the clinical outcome of that IVF cycle.

Predicting ovarian malignancy: application of artificial neural networks to transvaginal and color Doppler flow US.

Purpose: To compare the performance of artificial neural networks (ANNs) with that of multiple logistic regression (MLR) models for predicting ovarian malignancy in patients with adnexal masses by using transvaginal B-mode and color Doppler flow ultrasonography (US).

Materials And Methods: A total of 226 adnexal masses were examined before surgery: Fifty-one were malignant and 175 were benign. The data were divided into training and testing subsets by using a "leave n out method.