Papers by Claudio Giorlandino
Giornale italiano di ostetricia e ginecologia, 2009
L'ecografia transaddominale e transvaginale rappresentano il gold standard fra le indagini strume... more L'ecografia transaddominale e transvaginale rappresentano il gold standard fra le indagini strumentali per lo studio della pelvi femminile. In particolar modo, la sonda transvaginale è quella che offre uno studio ecografico più dettagliato delle strutture ed organi della pelvi femminile (1). Infatti, mentre la sonda transaddominale fornisce
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PubMed, Jun 1, 2003
Congenital diaphragmatic hernia (CDH) has an incidence of approximately 1:4000 live births. Most ... more Congenital diaphragmatic hernia (CDH) has an incidence of approximately 1:4000 live births. Most frequently the diaphragmatic defect is a left and posterolateral (Bochdalek) one. Prenatal diagnosis is made at ultrasonography; the relevant sonographic features will be described in the paper. Cystic adenomatoid malformation of the lung (CAML), pulmonary sequestration, bronchogenic cysts, pulmonary hypoplasia/agenesia need to be considered in differential diagnosis. In some cases, diagnosis of CDH is not possible "in utero": in such cases, herniation of abdominal viscera into the thorax takes place presumably just at delivery through a small diaphragmatic defect. CDH may be associated with intrauterine growth retardation (IUGR), chromosomal abnormalities (3%) and/or other malformations (10-50%): such as Central Nervous System, digestive, cardiac and urogenital anomalies. Therefore, search of associated malformations and amniocentesis with analysis of fetal karyotype are mandatory, whenever a CDH is diagnosed. CDH is still at present characterised by a high mortality (reportedly, about 45%). Many prognostic factors have been correlated to postnatal outcome of CDH: some of them are valuable prenatally by ultrasonography. However, the role of sonography in the prediction of neonatal outcome is still controversial: in particular, although many ultrasonographic parameters have been proposed, prenatal evaluation of pulmonary hypoplasia (a crucial factor related to postnatal survival) has not proved to be very accurate so far. Nevertheless, it is undisputable that prenatal diagnosis itself represents a crucial prognostic factor for CDH, since it allows birth of the affected fetuses in 3d level Perinatologic Centres provided with a Neonatal Intensive Care Unit and Neonatal Surgery.
Acta Obstetricia et Gynecologica Scandinavica, 1987
Over the last few years bromocriptine has been used for treatment of mastodynia and benign breast... more Over the last few years bromocriptine has been used for treatment of mastodynia and benign breast disease, but with contradictory results. This double‐blind clinical trial was performed to determine the efficacy of this prolactin inhibitor as compared with placebo. Subjective discomfort, clinical examination of the breast lesions, echomam‐mography and breast thermography were evaluated before, during and after 3 months of treatment and in a further follow‐up. Plasma levels of estradiol, progesterone and prolactin were measured over the same time. Significant reduction of mastodynia and significant improvement of the breast lesions were observed in the group given bromocriptine, though echomammography and breast thermography did not reveal any significant differences between the two groups. Plasma prolactin levels were significantly reduced by bromocriptine administration.
Annals of the New York Academy of Sciences, Jun 1, 1986
Thirty normally menstruating women, aged between 19 and 42 years and affected with recurrent mast... more Thirty normally menstruating women, aged between 19 and 42 years and affected with recurrent mastodynia and monolateral or bilateral fibrocystic breast disease were treated with bromocriptine (BR) 7.5 mg/day or placebo' for 3 months. The evaluation of subjective symptoms and physical examination were performed during the luteal phase of the cycle before the initiation of treatment and then during and after treatment. Echomammography and thermography were carried out in the luteal phase of the cycle (20-22nd day) before and after treatment. Further follow-up studies of these variables were carried out 3 months after therapy was discontinued. For all variables evaluated a score from 0 to 4 was assigned to each patient by the single operators. Venous blood samples were collected in the follicular and luteal phase of the cycle at day 12 and day 22. Estradiol-17P (E2) and progesterone (P) were measured by
Prenatal Diagnosis, Nov 1, 2009
BMC Research Notes, Mar 18, 2020
Objective: Non invasive prenatal testing (NIPT) using cell-free fetal DNA (cffDNA) has been widel... more Objective: Non invasive prenatal testing (NIPT) using cell-free fetal DNA (cffDNA) has been widely accepted in recent years to detect common fetal autosomal chromosome aneuploidies and sex chromosome aneuploidies (SCAs). In this study, the clinical performance of our fetal DNA testing was investigated by analyzing the sex chromosome aneuploidy aberrations among 9985 pregnancies. The study was a retrospective analysis of collected NIPT data from the Ion S5 next-generation sequencing (NGS) platform obtained from Altamedica Medical Centre of Rome. Results: NIPT analysis of 9985 pregnancies revealed 31 cases with abnormal SCA results (0.31%). Among the 31 positive NIPT cases, 22 women agreed to undergo fetal karyotyping, whereas 9 refused further analyses. Of the 22 women verified by karyotyping analysis, 77.3% (17/22) were confirmed to be true positive SCAs, whereas 22.7% (5/22) were false positive. Among the true positive cases, 53.0% (9/17) were positive for monosomy X, 17.6% (3/17) were positive for 47, XXX aneuploidy, 23.5% (4/17) were positive for 47, XXY aneuploidy, and 5.9% (1/17) were positive for 47, XYY aneuploidy. In conclusion, the present results confirm that NIPT is a potential method for SCA screening, although this technology needs to be further investigated to improve the test performance.
Viral Immunology, May 1, 2022
Advances in Infectious Diseases, 2021
In the present study, we analysed the results from the use of serological tests for the evaluatio... more In the present study, we analysed the results from the use of serological tests for the evaluation of the antibody response to SARS-CoV-2 virus, with the aim of verifying the seroprevalence for SARS-CoV-2 virus infection in Rome. Evaluations related to the seroprevalence are important for defining the epidemiological parameters of this disease. We therefore analysed the data deriving from 1586 subjects, residing in the geographical area of Rome, subjected to a rapid test, capable of detecting the presence of specific IgM and IgG class antibodies directed against the SARS-CoV-2 virus. Among the 1586 cases, 83 had positive conversion of IgM antibody and/or IgG antibody and 1503 tested negative. Out of 83 positive cases, 48% (40/83) samples resulted positively for both IgM and IgG, while 45% (37/83) were positive for IgG only, and 7% (6/83) for IgM only. The prevalence of anti-SARS-CoV-2 antibodies in the considered geographical area was 5% (83/1586), and 54% (45/83) of our population was an asymptomatic carrier. The study was performed to better evaluate the population prevalence in the studied geographic area. To our knowledge, this is the first study carried out in the Lazio region reporting data related to the asymptomatic carriers.
Genes, Dec 2, 2022
This article is an open access article distributed under the terms and conditions of the Creative... more This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY
Journal of medicine and life, Oct 1, 2020
Prenatal testing has been moving towards non-invasive methods to determine fetal risk for genetic... more Prenatal testing has been moving towards non-invasive methods to determine fetal risk for genetic disorders. Numerous studies have focused the attention on common trisomies; although the detection rate (DR) for trisomy 21 is high (over 95%), the accuracy regarding the DR for trisomies 13 and 18 has come under scrutiny. The testing has been applied to sex chromosome aneuploidies, but many studies have shown that it is not as effective as it is for common trisomies. Although non-invasive prenatal test (NIPT) has become a standard screening procedure for all pregnant women, invasive sampling procedures remain important in confirming NIPT-positive findings. In the present study, we report discordant results of Turner syndrome (TS) mosaicism between NIPT and karyotyping. A 35-year-old pregnant woman underwent NIPT, and a probable risk for Xp deletion was indicated. Subsequently, amniocentesis was performed. The karyotype was identified as mos 45,X [28]/46,X,i(X)(q1.0)[5]. In the second case, a 33-year-old woman underwent amniocentesis after a positive NIPT that indicated a probable risk for monosomy X. The result was mos 45,X [8]/46,XY[8]. Since NIPT is a screening test, the possibility of false-positive or false-negative results should always be considered. We underline the importance of pre/post detailed counseling. Furthermore, women with abnormal NIPT results should undergo immediate amniocentesis that remains the only tool for a correct diagnosis of sex chromosome aneuploidies.
The Journal of Molecular Diagnostics, Jul 1, 2019
During pregnancy, a percentage of the cell-free DNA circulating in the maternal blood is represen... more During pregnancy, a percentage of the cell-free DNA circulating in the maternal blood is represented by the cell-free foetal DNA (cffDNA), constituting an accessible source for noninvasive prenatal genetic screening. The coexistence of the maternal DNA, the dominant fraction of cell-free DNA, together with the cffDNA component, and the scarcity of the cffDNA itself, make applying traditional methods of genetics and molecular biology impossible. Next-generation sequencing methods are widely used to study foetal aneuploidies. However, in monogenic disorders, there have been relatively few studies that analyzed single mutations. We present a method for the analysis of an extended group of gene variants associated with recessive and dominant autosomal disorders using next-generation sequencing. The proposed test should allow a complete analysis of common genetic disorders and pathogen-associated variants for diagnostic use. The analysis of cffDNA for single gene disorders may replace invasive prenatal diagnosis methods, associated with the risk of spontaneous abortion and psychological stress for patients. The proposed test should assess reproductive risk both for genetic family disorders and de novo occurrences of the disease. The application of this method to a case of beta thalassemia is also discussed.
American Journal of Infectious Diseases, 2021
This open access article is distributed under a Creative Commons Attribution (CC-BY) 4.0 license.
Genes, Oct 16, 2021
This article is an open access article distributed under the terms and conditions of the Creative... more This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY
Obstetrical & Gynecological Survey, Apr 1, 1994
OBJECTIVE: To evaluate the outcome of ultrasound-guided aspiration of 0 varian endometriotic cyst... more OBJECTIVE: To evaluate the outcome of ultrasound-guided aspiration of 0 varian endometriotic cysts. METHOD: Thirty-four patients with ovarian endometriomas were submitted to transvaginal (28 patients) or transabdominal (6 patients) ultrasound-guided aspiration of the cyst content, and then followed with serial ultrasonograms for a mean period of 12 months (range 6-20 months). RESULT: The procedure was successful in all cases, and no early complications occurred. The recurrence rate was 53% and it was not influenced significantly by the preoperative or postoperative administration of medical suppressive therapy. CONCLUSION: Ultrasound-guided aspiration of ovarian endometriomas yiehls a relatively high recurrence rate, and can be proposed as an alternative treatment when surgery is undesired or contraindicated.
PubMed, Jul 1, 2008
Congenital Heart Disease (CHD) is the most common severe congenital abnormality in the newborn an... more Congenital Heart Disease (CHD) is the most common severe congenital abnormality in the newborn and the cause of over half the deaths from congenital anomalies in childhood. Prenatal diagnosis, possible as early as 15 weeks of gestation, allows physicians and families the greatest number of therapeutic options, and can improve the postnatal outcome. There are several potential indications for performing such examination. Evaluation of the heart in the setting of restricted fetal growth or fetal distress is often recommended. Whenever extracardiac anomalies are detected during fetal ultrasound examination or in presence of chromosomal abnormalities detected with amniocentesis, cardiac assessment is mandatory. The test should also be performed as part of the assessment of fetal arrhythmias. Finally, whenever congenital heart disease is suspected for other reasons, such as maternal exposure to teratogenic substances or a parental history of previous children with congenital lesions, the examination should be considered. The performance of a fetal echocardiogram requires experience and a systematic approach. Guidelines for training have been formulated, and only qualified individuals should perform this highly specialized examination. A description of the techniques of heart examination is presented below.
PubMed, Oct 1, 2012
Amniotic band sequence (ABS) is the term applied to a wide range of congenital anomalies, most ty... more Amniotic band sequence (ABS) is the term applied to a wide range of congenital anomalies, most typically limb and digital amputations and constriction rings, that occur in association with fibrous bands (1). These alterations may be associated or not with cutaneous and visceral abnormalities.This work, which is a literature review, examines several studies that relate to cases of amniotic band syndrome (SBA). In particular, our attention was focused on the causes and pathogenesis of the SBA. These for the most part are still unknown, but from what we observe in different jobs, are due to a mechanism of vascular damage. Therefore in this paper we examine chemical risk factors, like smoking, drug use, maternal hyperglycemia, mechanical risk factors such as the puncture of the amniotic sac after amniocentesis. We also speak of the altitude as a risk factor related to blood pressure, of the increased incidence of disease in primigravid, in women with a low level of education, in which the pregnancy was not planned, and then we talk of a higher incidence in young fathers and of the role of familiarity.
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Papers by Claudio Giorlandino