First-trimester euploid miscarriages analysed by array-CGH.

It is estimated that 10-15 % of all clinically recognised pregnancies results in a miscarriage, most of which occur during the first trimester. Large-scale chromosomal abnormalities have been found in up to 50 % of first-trimester spontaneous abortions and, for several decades, standard cytogenetic analysis has been used for their identification. Recent studies have proven that array comparative genomic hybridisation (array-CGH) is a useful tool for the detection of genome imbalances in miscarriages, showing a higher resolution, a significantly higher detection rate and overcoming problems of culture failures, maternal contamination and poor chromosome morphology. In this study, we investigated the possibility that submicroscopic chromosomal changes, not detectable by conventional cytogenetic analysis, exist in euploid miscarriages and could be causative for the spontaneous abortion. We analysed with array-CGH technology 40 foetal tissue samples derived by first-trimester miscarriages with a normal karyotype. A whole-genome microarray with a 100-Kb resolution was used for the analysis. Forty-five copy number variants (CNVs), ranging in size between 120 Kb and 4.3 Mb, were identified in 31 samples (24 gains and 21 losses). Ten samples (10/31, 32 %) have more than one CNV. Thirty-one CNVs (68 %) were defined as common CNVs and 14 were classified as unique. Six genes and five microRNAs contained within these CNVs will be discussed. This study shows that array-CGH is useful for detecting submicroscopic CNVs and identifying candidate genes which could account for euploid miscarriages.

Cryptic 1p36.3/6q25.2 translocation in three generations ascertained through a foetus with IUGR and cerebral malformations.

Here we describe a foetus with intrauterine growth retardation (IUGR), cerebral malformations and a 46,XY,der(1),t(1;6)(p36.3;q25.2) karyotype owing to a familial cryptic translocation segregating in three generations. A balanced translocation was present in the mother, the maternal uncle, the aunt and the grandmother. A female first cousin with dysmorphisms, hydrocephalus and mental retardation was a carrier of a partial trisomy 1p and a partial monosomy 6q. Multiple miscarriages were present in the family pedigree. Parents of the foetus had three other pregnancies: a male with a balanced translocation, and two foetuses with 1p36.3-pter monosomy and 6q25.2-qter trisomy.

[Latex allergy]. / Allergia al lattice.

The incidence of latex allergy has increased in the last decade in particular for medical and health care staff. The "L. Sacco" Hospital in Milan has developed an organisational model for dealing with clinical problems of patients allergic to latex who need to be admitted in hospital. Guidelines have been drawn up to handle the problem of latex allergy in hospital. An Interdisciplinary Working Group has systematically re-examined the epidemiological, etiopathogenetic, clinical diagnostic and therapeutic aspects of this important medical problem. This last topic has been particularly developed to facilitate doctors with emergency drugs. Nevertheless the most efficient method against the sensitisation is the elimination and reduction in hospital of the allergens causing the disease.

Corpus callosum agenesis, multiple cysts, skin defects, and subtle ocular abnormalities with a de novo mutation [45,XX,der(5), t(5;;14) (pter;q11.2)].

We report on a 2-year-old girl with a de novo mutation [45,XX,der(5),t(5;14) (pter;q11.2)] with corpus callosum agenesis, multiple cysts (cerebral and cardiac), subtle eye abnormalities, and at least two different skin defects, strongly indicating neuroectodermal involvement, as a neuromuscular choristoma (hamartoma) and an eccrine hamartoma. Fluorescent in situ hybridization with different single-locus probes showed that chromosome 5 has a very small deletion, confined to a region composed of repetitive sequences. By contrast, the long (q) arm of chromosome 14 seems to be much more involved in the rearrangement, with partial monosomy spanning from the centromere to the D14S72 and D14S261 loci. The extent of the deleted region of chromosome 14 is approximately 16 cM. To our knowledge, this is the smallest reported deletion involving the chromosome 14q11.2 region to be associated with a developmental disorder resulting in variable eye, skin, and brain anomalies. We suggest that a new syndrome, mimicking in some ways the MLS phenotype, is caused by a deletion in the chromosome 14q11.2 region.

[A competitive model for supply of materials for hemodynamics]. / Un modello di gara per approvvigionamento di materiale per Emodinamica.

INTRODUCTION: Cardiology and above all haemodynamics are among the specialities that have received the most emphasis in recent years and remarkable results have been achieved, thanks to technological developments in materials. In practice, therefore, the need to be able to access these required and qualitatively better materials, comes up against the need of state-run companies to prepare and finalize the tenders necessary for the purchase of any goods. METHODS: There are essentially three problems to be faced in relation to the need to keep costs down: the large number and the different kinds of medical apparatus to be used, the possibility of reusing expensive materials which enables the use of different configurations without inordinately increasing prices, and the need to hold long and complex tenders. RESULTS/CONCLUSIONS: We have decided to supply a pro-forma product description for use in public tenders in order to facilitate the methods for detailing technical characteristics and quality measurement so that medical users can attain a good price quality ratio.

Cessation of transition-phase follicle growth in the guinea pig by follicle-regulatory protein.

The granulosa cell produces a protein inhibitor of aromatase activity (follicle-regulatory protein: FRP), which recently was purified to homogeneity. To determine the possible involvement of FRP in follicular maturation, we examined the size distribution of follicles and their morphological patterns as well as serum steroid levels after the systemic administration of FRP and/or gonadotropin to guinea pigs, which have 5-6 days between luteolysis and ovulation in a 16-day cycle. FRP was partially purified from porcine follicular fluid by ammonium sulfate precipitation (0-35%), Dye Matrex Orange A Chromatography, dialysis, and lyophylization. To investigate the effect of pregnant mare's serum (PMS) during the periovulatory period in follicular development, adult guinea pigs underwent unilateral ovariectomy on Days 10, 12, and 14 of the estrous cycle (N = 6 each). Guinea pigs were injected twice daily with vehicle or PMS (5 IU) and 2 days thereafter the remaining ovaries were removed. Another group of guinea pigs received, in addition, intraperitoneal injections of FRP (1 mg) each morning from Day 8 of estrus until they were killed. The resected ovaries were fixed, embedded in paraffin, serially sectioned (7 micron), and stained with Azan for comparative study via light microscopy. All follicles greater than 400 micron were classified by size, and the atretic pattern was determined by mural granulosa cell pyknosis and antral sloughing. The distribution of follicular size was not affected by hemicastration at Day 10, although the percentage of total atretic follicles decreased. In the PMS-treated group, there was a significant decrease in the number of viable follicles (700-899 micron) after hemicastration. Also pronounced in follicles of this size was the lack of mid-atretic follicles. After injections of FRP for 3 or 5 days, the overall number of follicles was almost doubled as compared to the number found in the normal ovary. Additionally, there was a significant increase in the percentage of follicles that were recently atretic, although the total percentage of atretic follicles was unchanged. After hemicastration at Day 10 followed by FRP treatment for 2 days, the total percentage of atretic follicles in the remaining ovary decreased to 18% compared with 35% in the normal ovary, 46% in the hemicastrated plus PMS-treated group, and 38% in the hemicastrated and PMS- and FRP-treated group (all p less than 0.01). Treating the hemicastrated animal with PMS increased the percentage of atretic follicles in all groups.(ABSTRACT TRUNCATED AT 400 WORDS)

Inhibition of FSH augmented adenylate cyclase activity in porcine granulosa cells by ovarian protein.

We sought to evaluate the effects of a fraction of porcine follicular fluid, termed follicle regulatory protein (FRP), on FSH-induced adenylate cyclase activity in porcine granulosa cell membranes using Gpp(NH)p and forskolin as pharmacological probes of adenylate cyclase activity. Without FSH treatment, the addition of 100 micrograms/ml of the FRP fraction induced a significant decrease in Gpp(NH)p stimulated cyclase activity while maximal inhibition of cAMP formation was achieved with 1 mg/ml of FRP. Granulosa cells cultured with FSH reached a maximum in adenylate cyclase activity at 20 min which returned to baseline by 45 minutes. FRP induced a reduction in adenylate cyclase activity during this same interval of time. Adenylate cyclase activity of cells treated with FRP was unchanged in the presence of methyl-isobutal-xanthine. Further, when FRP was heated (56 degrees C, 45 min) or precipitated with 10% TCA, it was unable to inhibit adenylate cyclase. The 50% inhibitory dose (ID50) for FRP inhibition of adenylate cyclase activity in cells stimulated with Gpp(NH)p was 80 micrograms/ml and 500 micrograms/ml when granulosa cells were preincubated with FSH prior to Gpp(NH)p stimulation. The ID50 for the FRP inhibition of forskolin stimulated adenylate cyclase activity was 500 micrograms/ml. Gpp(NH)p stimulated adenylate cyclase activity was more sensitive than forskolin stimulated activity to inhibition by FRP. In conclusion, the data presented here demonstrate that a partially purified fraction of porcine follicular fluid inhibited FSH responsive adenylate cyclase activity in porcine granulosa cells.

Double-blind comparison of meclofenamate sodium with codeine and placebo for the pain of episiotomy.

Meclofenamate sodium, a nonsteroidal anti-inflammatory agent, was compared at two dose levels (100 mg and 200 mg) with codeine (60 mg) and placebo in a double-blind, randomized study of 218 women after normal vaginal delivery. The purpose was to determine the analgesic efficacy and safety of meclofenamate sodium for the short-term treatment of acute episiotomy pain. Meclofenamate sodium was significantly better than placebo in most measures of pain relief and reduction of pain intensity. The 100-mg dose of meclofenamate sodium was significantly better than codeine in relieving pain. Adverse experiences with the study medications were minimal (6.4%). Patients receiving codeine reported more side effects than did those receiving either dose of meclofenamate sodium. Meclofenamate sodium is a safe, effective analgesic for acute episiotomy pain.