[Effectiveness of a new cervicometer in evaluating the risk of preterm delivery]. / Validità di un nuovo cervicometro per la valutazione del rischio di parto pretermine.

AIM: The ultrasound measurement of the cervix is the gold standard for assessing the risk of preterm delivery. We compared the accuracy of this technique with measurements obtained by the cervicometer Cervilenz®. The purpose was to show that this device can be used as a screening tool, low cost, in the diagnosis of preterm labor. METHODS: Fifty patients were included in the study at gestational age between 21+0 and 26 +0 or weeks. The study was blinded between the two performers utilizing the cervicometer and the transvaginal ultrasound. RESULTS: The study showed 100% concordance and a correlation between the two techniques of 0.94. CONCLUSION: The cervicometer proved to be a reliable and easy to use device to detect a normal or short cervix, with contained healthcare costs.

Bailout directional atherectomy for side branch salvage following subintimal recanalization of infragenicular arteries.

A 64-year old diabetic male presenting with critical limb ischemia was treated with percutaneous angioplasty for occlusion of the infragenicular popliteal artery and crural vessels. Directional atherectomy was uncommonly used in the false lumen created by following subintimal angioplasty of the infrapopliteal vessels for re-access into the true lumen. The positive clinical and angiographic results indicate that atherectomy can be considered a useful tool for rescue interventions to reopen large side branches unintentionally occluded during subintimal angioplasty.

Oxidative stress in pathological pregnancies.

Oxidative stress (OS) plays a role in pregnancy at risk of pre-eclampsia, diabetes and premature labour. We measured three markers of OS: total antioxidant capacity (TAC), thiolyte capacity and pro-oxidant capacity in 45 women: 15 normal pregnancies, 17 pathological pregnancies (pre-eclampsia and pregestational diabetes) and 13 delivered pre-term. Plasma TAC (µmol/ml) values in patients with pathological pregnancies (235.67 ± 70.08) (p(1) = 0.0086) and pre-term labour (243.51 ± 50.52) (p(2) = 0.0479) were significantly reduced as compared with the controls (306.78 ± 70.08). Thiolyte capacity (µmol/ml) in the pathological pregnancies (326.03 ± 78.24) (p(3) = 0.0029) and in pre-term labour (335.94 ± 76.63) (p(4) = 0.0084) groups were significantly reduced compared with the control group (417.48 ± 39.76) (p < 0.05). Pro-oxidant capacity (mg/100 ml) in the pathological pregnancies (94.11 ± 26.13) (p(5) = 0.00034) and in pre-term labour (87.18 ± 20.28) (p(6) = 0.00044) groups were significantly higher compared with the controls (60.27 ± 6.33). Elevated OS values were seen in pathological pregnancies. This supports the important role of OS in diseases in pregnancy, particularly pre-eclampsia, diabetes and pre-term birth.

Prenatal diagnosis and molecular characterization of an interstitial 1q24.3-31.3 deletion: case report and review.

We describe a foetus with an interstitial deletion of 1q detected in amniotic fluid cells and we review the literature of similar pre- and postnatal cases, in order to identify prognostic factors useful for prenatal counselling. Foetal/parents karyotyping and FISH with whole chromosome 1 paint and BAC clone specific for 1q23-32 region were performed. Further 100 Kb resolution array-CGH analysis was executed after pregnancy termination on DNA extracted from foetal skin fibroblasts. Cytogenetic analyses revealed a de novo interstitial deletion involving the long arm of chromosome 1. FISH analysis confirmed that the deletion involves the intermediate 1q31.2 region. Foetal ultrasound (US), performed at 21 weeks of gestation, showed intrauterine growth restriction, shortening of the long bones, echogenic intracardiac focus and mild cerebral ventriculomegaly. Array-CGH localized the deletion in a DNA sequence of about 21 Mb in the 1q24.3-q31.3 region. Our findings, together with available data on patients with 1q deletion, suggest that the most severe phenotypes are not simply associated with larger deletion, and that the results of prenatal US assessment, rather than a fine molecular characterization of the deletion, should be taken into account for prognostic evaluation.

[Nuchal translucency and combined test: what are the implications in clinical practice?]. / La translucenza nucale e il test combinato: quali risvolti nella pratica clinica?

AIM: The aim of this study was to evaluate the performance of the combined test (nuchal translucency, NT) and maternal serum free-beta human chorionic gonadotropin (free beta-hCG) and pregnancy-associated plasma protein-A (PAPP-A), compared to the NT measurement alone, in fetal aneuploidy screening in the general population and in pregnant women aged 35 years and over. In addition, the association between increased NT and presence of cardiac defects in fetuses with normal karyotype was evaluated. METHODS: Screening at 11-14 weeks of gestation by NT measurement and combined test was carried out in 1521 pregnant women. The estimated risk for trisomy 21 and trisomy 13+18 was calculated (risk cut-off 1/300 and 1/750 respectively) and the outcomes was evaluated. RESULTS: Ten cases of trisomies (21 and 18) occurred, seven of which among the older group of pregnant women. The detection rate (DR) for the combined test was 80% in the general population and 85.7% in older pregnant women, which resulted higher rate than NT measurements alone. Detection rate of cardiac defects using NT measurements was 66.6%. CONCLUSION: The combined test is an effective screening for aneuploidies and reduces at 14% the need of invasive testing in the older obstetric population, detecting all the trisomies occurred in this group. The association between increased NT and cardiac defects is confirmed but it seems too weak to consider NT as a single screening strategy for these abnormalities.

Kaposi's sarcoma misdiagnosed as a diabetic plantar foot ulcer.

In this report, the authors describe the case of a patient with Kaposi's sarcoma that was initially misdiagnosed as a plantar ulcer. The ulcer typically appeared as a neuropathic foot ulceration located on the plantar aspect of the first metatarsal head. There was hyperkeratosis on the plantar surfaces of the other metatarsal heads. However, the lesion had mushrooming granulation tissue, without undermined perilesional edges. A wound biopsy revealed the presence of Kaposi's sarcoma. The presence of cancerous lesions on the plantar aspect of the foot is an infrequent event in diabetic patients. However, given the malignant nature of some skin cancers careful clinical examination and biopsy of the wound are advisable.

Angioplasty for diabetic patients with failing bypass graft or residual critical ischemia after bypass graft.

OBJECTIVE: To evaluate the efficacy of peripheral angioplasty (PTA) in the treatment of diabetic patients with previous peripheral bypass graft and recurrent critical limb ischemia (CLI). METHODS: Between January and December 2006, 293 diabetic patients presenting with critical limb ischemia (CLI) according to the TASC 2000 criteria were admitted to our footcare centre. Among these patients, 32 of them had previously undergone bypass grafting: femoropopliteal in 26 patients, femoroposterior tibial in 3 patients, femoroperoneal in the remaining 3. All these patients underwent angiography and, whenever possible, a concomitant PTA procedure. RESULTS: Six patients presented with stenosis at the distal anastomosis, 2 with stenosis at the proximal anastomosis and in 5 patients both the distal and proximal anastomosis were stenosed. In 12 patients the graft was completely occluded. In 7 patients the graft appeared patent but all the infrapopliteal arteries were occluded. The average time interval between bypass and subsequent hospital admission because of CLI was 6.3+/-4.2 months for patients with patent grafts and 20.5+/-12.0 months for those with failing grafts (p=0.004). A successful PTA was performed in 25 patients (78.1%). In all patients with patent grafts, PTA recanalized one infrapopliteal artery. Recanalization of the graft was obtained in all 13 patients with non-occluded graft. Recanalization of superficial femoral artery occlusion by means of PTA was obtained in 5 out of the 12 patients in whom the graft was completely occluded. Five patients underwent major amputation within 30 days and 3 further patients during the follow-up period. Patients were followed up until December 31 2007, with a mean follow-up of 1.89+/-0.27 years. Restenosis occurred in 7 (28.0%) of the 25 patients in whom a successful PTA was performed. In 5 of these 7 patients, PTA was repeated successfully. In 2 patients in whom a further PTA was not feasible a major amputation was performed. At the end of the follow-up period the cumulative primary patency rate was 72%, the assisted patency rate was 92%. CONCLUSIONS: PTA is an effective method for revascularizing secondary obstructions in patients with graft failure (and no possibility of a redo graft). PTA also is effective in at least one subgenicular artery in patients with diabetes with inadequate run-off after femoropopliteal bypass grafting.

Multiple true umbilical knots: a silent risk for intrauterine growth restriction with anomalous hemodynamic pattern.

True knots of the umbilical cord can represent a serious complication for the fetus due to the possible alteration in the fetal circulation with consequent intrauterine growth restriction or fetal death. We report a case of 5 true umbilical cord knots associated with severe fetal growth restriction and an abnormal hemodynamic pattern. The Doppler examination showed a hemodynamic pattern characterized by an early alteration in the waveform profile in the fetal venous districts with normal impedance to flow values in both uterine and umbilical arteries. This normal profile of the umbilical arteries remained unchanged until the last stage of hemodynamic decompensation, while the profiles of the uterine arteries remained normal until delivery. This case report suggests that it is important to pay close attention to the evaluation of the fetal cord in situations in which the above described hemodynamic pattern is noted. Although the ultrasound diagnosis of true knots is extremely difficult, the presence of a true knot should always be suspected in the presence of an intrauterine growth restriction fetus when the venous district is altered before the fetal arterial districts after exclusion of other detectable reasons for growth restriction.

Alpha-melanocyte-stimulating hormone peptides inhibit HIV-1 expression in chronically infected promonocytic U1 cells and in acutely infected monocytes.

The purpose of the present research was to determine if alpha-melanocyte-stimulating hormone (alpha-MSH) and its C-terminal tripeptide [alpha-MSH (11-13), KPV] alter HIV expression in infected cells. The results indicate that chronically HIV-1-infected promonocytic U1 cells produce alpha-MSH and that immunoneutralization of the endogenous peptide enhances HIV expression. Because U1 cells express the alpha-MSH receptor 1 (MC1R), an autocrine-inhibitory circuit based on the peptide and its receptor likely occurs in these cells. To determine effects of pharmacological concentrations of alpha-MSH peptides on HIV expression, we measured p24 antigen release by TNF-alpha-stimulated U1 cells exposed to a wide range of concentrations of synthetic alpha-MSH and KPV. Viral expression was reduced by both peptides. KPV also effectively reduced HIV replication in acutely infected monocyte-derived macrophages (MDM). The basis of the peptide influence on viral replication is at the transcriptional level; KPV inhibited activation of NF-kappaB that is known to enhance viral expression. Endogenous alpha-MSH likely contributes to natural defense against HIV. However, greater concentrations of synthetic peptide are much more effective in reducing HIV expression in infected cells.

Prenatal diagnosis in Italy.

In Italy, there are about 560,000 births per year. The number of prenatal diagnoses (PND) performed is estimated at 80,000 examinations per year, but no official data are available regarding the distribution of the different procedures. There are no official registers, either at a national or at a regional level, concerning PND and particularly the invasive procedures (as amniocentesis, chorionic villus sampling, chordocentesis). Thanks to the direct interest of some scientific societies, such as the Italian Association of Medical Cytogenetics, the Italian Association of Medical Genetics, the Italian Society for the Study of Metabolic Hereditary Diseases and the Italian Society of Gynaecology and Obstetrics, it has been possible to identify the number and distribution of public and private structures interested in genetic counselling and prenatal diagnosis during the last decades. As to the congenital malformations, there is a regional epidemiological system of surveys (started in 1982) co-ordinated by the Epidemiological and Biostatistical Laboratory of the 'Istituto Superiore di Sanità' (National Board of Health). This institution has published data for the period between 1986 and 1990 concerning the trend of incidence for the most important malformations at birth. Cytogenetic PND in public services is allowed for the following indications: maternal age 35 and over, previous child with a chromosomal anomaly, parent with a constitutional chromosomal abnormality and abnormal findings at the ultrasound examinations. Current methods in use consist in echography, amniocentesis, chorionic villus sampling, fetal blood sampling and maternal serum screening. At the moment, new approaches to the fetal tissue sampling are, as follows: amniotic fluid filtration, transcervical cell sampling and isolation of fetal cells from maternal blood. Furthermore, areas under development are 3D sonography and first-trimester anatomic survey sonography. PND is financed by regional laws, the National Health Service and private funds. There is a current legislation on termination of pregnancy (Law 194/1978). This law permits voluntary interruption of pregnancy within the first 90 days, while it is permitted between 90 and 180 days only in cases of severe fetal anomalies and over 180 days for serious risks for the woman's life: but it is necessary to do everything to save the fetal life. No law has been issued yet on pre-implantation diagnosis. Presently, the major problems are: the unbalanced distribution of financial resources among the different regions, the irrational number and distribution of centres for PND, inadequate prenatal counselling, especially in central/southern Italy, where counselling is somehow lacking. Therefore, guidelines for appropriate prenatal counselling should be established. For the future, we believe that the best results in this field are probably related to the advances of research (there is a target programme of the Italian National Research Council called 'Genetic Engineering', which is in its fourth year of financing). This programme will hopefully be cost-effective and improve the quality of PND so that more congenital anomalies can be detected at lower expenses in the future.

Delayed interval delivery of a second twin.

We report a case of diamniotic dichorionic pregnancy at 21 weeks and 5 days of gestation with threatened preterm labor with cervical modification and protrusion into vagina of the amniotic sac of twin one. After 4 days there was a rupture of membrane of the protruding sac and delivery of the first twin. We decided to retain the other one to allow improvement in the outcome for the second twin. The patient was treated with tocolytics, antibiotics and continuously monitored. After 18 days there was increasing uterine contractility and we decided to perform the cesarean section and delivered the second twin.

Nitinol stents with polymer-free paclitaxel coating for stenosis of failing infrainguinal bypass grafts.

AIM: This study was designed to investigate the immediate and one-year outcomes of polymer-free paclitaxel coated drug-eluting stent (DES) implantation in a consecutive series of patients presenting with stenosis of infrainguinal bypass grafts. METHODS: Between January 2011 and January 2012, 11 patients with failing infrainguinal bypass grafts were treated in two institutions. Clinical status and Duplex scan parameters were recorded at baseline and over a follow-up period of one year. RESULTS: DES implantation was successfully performed in all patients. Ten patients received a single stent and one patient received two stents. At one year, one patient showed total bypass graft occlusion (9%). In all the remaining patients, Duplex scan examination documented patency of the treated grafts. CONCLUSION: DES implantation in failing infrainguinal bypass grafts can be safely performed and provides satisfactory clinical outcomes. The patency rate of 91% favourably compares with those obtained with other endovascular treatments such as plain balloon or cutting balloon angioplasty.

[Cardiac sinus node dysfunction due to a new mutation of the SCN5A gene]. / Une dysfonction sinusale en rapport avec une nouvelle mutation faux-sens du gène SCN5A.

A 10-year-old child was hospitalized for bradycardia during a viral infection with chikungunya. His history showed unexplored episodes of bradycardia. Cardiologic explorations revealed cardiac sinus node dysfunction (SD). Mutational screening of the SCN5A gene showed that this case was a compound heterozygote for p.Ala735Val and p.Asp1792Asn missense mutants. Five years later, the child underwent a pacemaker insertion after an electrophysiological study performed during an atrial flutter access.

[Interest of coronary flow reserve of the LAD during dobutamine stress echocardiography]. / Faisabilité et intérêt de la mesure de la réserve coronaire de l'IVA lors de l'échographie dobutamine.

AIM OF THE STUDY: To assess the value of the coronary flow reserve (CFR) in the left anterior descending artery (LAD) during dobutamine stress echocardiography in the diagnosis of significant LAD stenosis (more than 70%). METHOD: Retrospective study of 81 patients with a positive stress echocardiography who underwent a coronarography. RESULTS: Measurement of coronary flow reserve was able in half echocardiographic exams. Medium Pic diastolic velocity was 0.33 m/s (SD 0.20), medium maximal diastolic velocity during stress was 0.62 m/s (SD 0.20), medium CFR was 2.25 (SD 0.65). In 50 patients LAD was not seen; in five of them LAD was occluded. The predictive positive value (PPV) of a low coronary flow reserve to detect LAD stenosis is 66.7% and the negative predictive value (NPV) is 65.4%. An abnormal anterior contraction during stress echo with a low reserve has a PPV of 75% for the diagnosis of significant IVA stenosis and a normal contraction during stress with normal coronary flow reserve means a NPV of 65%. We did not show a significant correlation between low coronary flow and abnormal contraction during stress echocardiography (kappa 0.51). CONCLUSION: Coronary flow reserve of LAD during stress echo is feasible but does not really improve exam performance to detect significant IVA stenosis. This measurement remains to be clear in coronary patients management.