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1.
Int J Mol Sci ; 25(7)2024 Apr 04.
Artigo em Inglês | MEDLINE | ID: mdl-38612849

RESUMO

Gestational diabetes mellitus (GDM) is one of the most frequent predictors of obstetric outcome among Romanian pregnant women. Thus, we aimed to investigate the role of rs7903146 (C/T) TCF7L2 gene polymorphism in the presence of GDM and to evaluate the influence on maternal-fetal outcomes in a cohort of pregnant women from Northern Transylvania. Our prospective case-control study was performed in a tertiary maternity center on 61 patients diagnosed with GDM and 55 normal pregnant patients. The patients were genotyped for rs7903146 (C/T) polymorphism of the TCF7L2 gene using the PCR-RFLP method between 24 and 28 weeks of gestation. The minor T allele was associated with a high risk of developing GDM (OR 1.71 [95% CI 0.82-3.59]) if both heterozygote and homozygote types were considered. Also, a higher risk of developing GDM was observed in homozygous carriers (OR 3.26 [95% CI 1.10-9.68]). Women with the TT genotype were more likely to require insulin therapy during pregnancy than other genotypes with a 5.67-fold increased risk ([1.61-19.97], p = 0.015). TT homozygote type was significantly associated with fetal macrosomia for birth weights greater than the 95th percentile (p = 0.034). The homozygous TT genotype is associated with an increased risk of developing GDM. Also, rs7903146 (C/T) TCF7L2 variant is accompanied by a high probability of developing insulin-dependent gestational diabetes mellitus (ID-GDM). The presence of at least one minor T allele was associated with a higher risk of fetal macrosomia.


Assuntos
Diabetes Mellitus Tipo 1 , Diabetes Gestacional , Gravidez , Feminino , Humanos , Diabetes Gestacional/genética , Macrossomia Fetal , Estudos de Casos e Controles , Romênia , Polimorfismo Genético , Insulina , Proteína 2 Semelhante ao Fator 7 de Transcrição/genética
2.
Medicina (Kaunas) ; 58(9)2022 Aug 26.
Artigo em Inglês | MEDLINE | ID: mdl-36143839

RESUMO

Backgroundand Objectives: Gestational diabetes mellitus (GDM) is a pregnancy-associated pathology commonly resulting in macrosomic fetuses, a known culprit of obstetric complications. We aimed to evaluate the potential of umbilical cord biometry and fetal abdominal skinfold assessment as screening tools for fetal macrosomia in gestational diabetes mellitus pregnant women. Materials and methods: This was a prospective case−control study conducted on pregnant patients presenting at 24−28 weeks of gestation in a tertiary-level maternity hospital in Northern Romania. Fetal biometry, fetal weight estimation, umbilical cord area and circumference, areas of the umbilical vein and arteries, Wharton jelly (WJ) area and abdominal fold thickness measurements were performed. Results: A total of 51 patients were enrolled in the study, 26 patients in the GDM group and 25 patients in the non-GDM group. There was no evidence in favor of umbilical cord area and WJ amount assessments as predictors of fetal macrosomia (p > 0.05). However, there was a statistically significant difference in the abdominal skinfold measurement during the second trimester between macrosomic and normal-weight newborns in the GDM patient group (p = 0.016). The second-trimester abdominal circumference was statistically significantly correlated with fetal macrosomia at term in the GDM patient group with a p value of 0.003, as well as when considering the global prevalence of macrosomia in the studied populations, 0.001, when considering both populations. Conclusions: The measurements of cord and WJ could not be established as predictors of fetal macrosomia in our study populations, nor differentiate between pregnancies with and without GDM. Abdominal skinfold measurement and abdominal circumference measured during the second trimester may be important markers of fetal metabolic status in pregnancies complicated by GDM.


Assuntos
Diabetes Gestacional , Macrossomia Fetal , Biomarcadores , Biometria , Estudos de Casos e Controles , Diabetes Gestacional/diagnóstico , Diabetes Gestacional/epidemiologia , Feminino , Macrossomia Fetal/diagnóstico , Macrossomia Fetal/epidemiologia , Macrossomia Fetal/patologia , Humanos , Recém-Nascido , Gravidez , Romênia , Cordão Umbilical/patologia
4.
Prenat Diagn ; 39(7): 505-518, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-30980413

RESUMO

OBJECTIVE: The aim of this study was to establish the diagnostic accuracy of high-field magnetic resonance imaging (MRI) at 7 Tesla (T) compared with that of stereomicroscopic autopsy for assessing first trimester fetuses. METHODS: Nine consecutive cases of first trimester fetuses resulting from spontaneous and therapeutic pregnancy termination were considered. The cases were divided into two groups according to gestational age: the Embryo Group with cases of nine to 10 gestational weeks (GWs) and the Fetus Group with cases of 13 GWs. The first group was scanned using three-dimensional fast imaging with steady state precession (3D FISP), and the second group was scanned using a two-dimensional (2D) turbo spin-echo high-resolution T2-weighted imaging (T2 WI) protocol. A radiologist and two embryologists interpreted the images. All cases were evaluated by invasive autopsy, with pathologist blinded to the imaging results. In total, the database included 270 items for evaluation (9 cases × 30 structures/case). RESULTS: The global agreement between fetal high-field virtopsy and microscopic or stereomicroscopic autopsy was evaluated using 225 evaluation items visible by both methods. Overall, using microscopic examination and stereomicroscopic autopsy as the gold standard, fetal high-field virtopsy had a sensitivity of 94.6% [95% CI, 87.2-98.3] and a specificity of 97.6% [95% CI, 95-98.8]. The positive predictive value (PPV) was 93% [95% CI, 85.7-96.6], and the negative predictive value (NPV) was 98.2% [95% CI, 95.7-99.4]. Cohen kappa coefficient of agreement was k = 0.92 [95% CI, 0.82-0.97], and the McNemar test showed p = 1.00. CONCLUSIONS: Virtual autopsy using high-field MRI at 7 T can be considered a safe alternative approach to stereomicroscopic autopsy for the assessment of fetal structural anomalies at the end of the first trimester of pregnancy.


Assuntos
Feto Abortado/patologia , Feto/patologia , Imageamento por Ressonância Magnética/métodos , Microscopia/métodos , Primeiro Trimestre da Gravidez , Feto Abortado/diagnóstico por imagem , Autopsia/métodos , Percepção de Profundidade , Feminino , Morte Fetal , Feto/diagnóstico por imagem , Idade Gestacional , Humanos , Imageamento Tridimensional/métodos , Valor Preditivo dos Testes , Gravidez , Sensibilidade e Especificidade
5.
Clin Lab ; 65(7)2019 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-31307181

RESUMO

BACKGROUND: Neonatal sepsis represents one of the common diseases in the neonatal intensive care unit. Here we aim to evaluate the differences between a group of preterm newborns with sepsis and a control group in relation to clinical and laboratory variables. In addition, our goal is to establish potential predictors of early-onset sepsis (EOS) and late-onset sepsis (LOS). METHODS: The study included 113 preterm newborns with sepsis (EOS-63.72%/LOS-36.28%). Laboratory deter-minations included full blood count, CRP, biochemical determinations, blood culture. RESULTS: The most important univariate neonatal predictors were gestational age (p < 0.001), surfactant adminis-tration (p < 0.001), mechanical ventilation (p < 0.001), heart failure (p < 0.001), a history of hypocalcemia (p = 0.037), Apgar score at 1 minute lower than 7 (p = 0.001), birth weight < 1,500 g (p = 0.005), number of hospi-talization days (p = 0.048), and number of weight recovery days < 10 (p < 0.05). The WBC and CRP parameters remained significant univariate predictors of sepsis on day 7 (p = 0.002; OR = 2.01 per 10,000 mm3 increase of WBC, 95% CI: (1.30; 3.09) and p = 0.001; OR = 4.27, 95% CI: (1.85; 9.88), respectively). Logistic regression anal-ysis showed maternal urinary tract infection (OR = 3.05), heart failure (OR = 5.28), the number of hospitalization days (OR = 1.09) and CRP (OR = 3.26) were significant independent risk factors for neonatal sepsis in preterms. The univariate predictors of EOS were gestational age (p = 0.002), birth weight (p = 0.014), 1-minute Apgar score (p = 0.012), maternal urinary tract infection (p = 0.008), surfactant administration (p < 0.001), heart failure (p < 0.001), and CRP level (p < 0.001). Surfactant administration (OR = 6.73) and CRP level (OR = 3.51) represent predictors of EOS in preterms according to the multivariate model. The univariate predictors of LOS were gesta-tional age (p = 0.001), birth weight (p = 0.048), 1-minute Apgar score (p = 0.001), surfactant administration (p < 0.001), hypocalcemia (p = 0.03), heart failure (p = 0.003), CRP level (p < 0.001), mechanical ventilation (p < 0.001), and the number of hospitalization days (p < 0.001). In the multivariate model, the number of hospitali-zation days (OR = 1.11) and heart failure (OR = 5.98) are independent predictors for LOS in preterms. CONCLUSIONS: The study confirms the presence of maternal urinary tract infection, hospitalization days, heart fail-ure, and CRP level as predictors of neonatal sepsis in preterms with differences between EOS and LOS.


Assuntos
Doenças do Recém-Nascido/diagnóstico , Unidades de Terapia Intensiva Neonatal/estatística & dados numéricos , Sepse/diagnóstico , Centros de Atenção Terciária/estatística & dados numéricos , Idade de Início , Proteína C-Reativa/análise , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Masculino , Gravidez , Complicações Infecciosas na Gravidez , Estudos Retrospectivos , Medição de Risco/métodos , Medição de Risco/estatística & dados numéricos , Fatores de Risco , Sepse/complicações , Infecções Urinárias/complicações
6.
Z Geburtshilfe Neonatol ; 223(5): 289-296, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31100759

RESUMO

OBJECTIVE: Prediction of cut-off value for gestational week at birth for better perinatal outcomes in early- and late-onset fetal growth restriction (FGR). MATERIALS AND METHODS: This study consists of 83 singleton pregnancies with FGR that were diagnosed antenatally and confirmed postnatally between January 2017-April 2018. We used the 34th gestational week as a cut-off for early- and late-onset FGR discrimination. RESULTS: Early- and late-onset FGRs were detected in 22 (26.5%) and 61 (73.5%) of the cases, respectively. Expectant management significantly improved birth weight and Apgar scores at the 1st, 5th, and 10th minute in early-onset FGR cases (p=0.001, p=0.019, p=0.002, and p=0.001,respectively). Similar analysis revealed no significant improvements in late-onset FGR (p=0.151, p=0.727, p=0.951 and p=0.477, respectively). Umbilical cord blood gas pH was found to be similar between management modalities in both the early- and late-onset groups (p=0.186 and p=0.456, respectively). Gestational week 33.5 was found to be the threshold for better Apgar scores at the 1st, 5th, and 10th minute according to ROC curve analysis. Percentiles of 4.5, 2.5, and 4.5 were cut-off values for better Apgar scores at the 1st, 5th, and 10th minute, respectively. CONCLUSION: Expectant management must be the first choice to improve Apgar scores in early-onset FGR cases, and gestational week 33.5 must be considered as a threshold for delivery. Immediate delivery might be the choice in late-onset FGR in necessary cases. However, etiology-based management and perinatal surveillance might also be considered to improve prematurity-related neonatal complications.


Assuntos
Retardo do Crescimento Fetal , Ultrassonografia Pré-Natal , Índice de Apgar , Peso ao Nascer , Feminino , Retardo do Crescimento Fetal/diagnóstico , Retardo do Crescimento Fetal/diagnóstico por imagem , Idade Gestacional , Humanos , Recém-Nascido , Parto , Gravidez , Resultado da Gravidez
7.
8.
J BUON ; 21(5): 1184-1188, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27837621

RESUMO

PURPOSE: E-cadherin is a transmembrane glycoprotein with important roles in the maintenance of cervical squamous epithelium integrity. The purpose of this study was to investigate the relationship between E-cadherin-160 C/A polymorphism and cervical intraepithelial neoplasia (CIN). METHODS: A case-control study was performed enrolling 70 CIN cases and 107 age-matched healthy controls. Each patient was examined colposcopically, having a cervical specimen. All patients and controls have been genotyped for E-cadherin-160. Data were analysed using odds ratios (OR) and chi-square test at a significance level of p<0.005. RESULTS: The presence of E-cadherin-160 C/A was significantly associated with high-grade squamous intraepithelial lesion (HSIL) (OR=2.7916, 95% CI 1.1495,6.9345, x2=6.33, p=0.0118) and carcinoma in situ (CIS) (OR=2.5617, 95% CI 1.1676,5.6705, x2=6.63, p=0.0100). The detection of either CA or AA genotype was also significantly associated with HSIL and CIS. CONCLUSION: E-cadherin-160 genotype represents a valid risk factor for HSIL and CIS.


Assuntos
Biomarcadores Tumorais/genética , Caderinas/genética , Polimorfismo Genético , Lesões Intraepiteliais Escamosas Cervicais/genética , Displasia do Colo do Útero/genética , Neoplasias do Colo do Útero/genética , Adulto , Antígenos CD , Estudos de Casos e Controles , Distribuição de Qui-Quadrado , Colposcopia , Feminino , Estudos de Associação Genética , Predisposição Genética para Doença , Heterozigoto , Homozigoto , Humanos , Pessoa de Meia-Idade , Razão de Chances , Fenótipo , Regiões Promotoras Genéticas , Fatores de Risco , Romênia , Lesões Intraepiteliais Escamosas Cervicais/patologia , Neoplasias do Colo do Útero/patologia , Displasia do Colo do Útero/patologia
9.
Diagnostics (Basel) ; 14(5)2024 Mar 02.
Artigo em Inglês | MEDLINE | ID: mdl-38473005

RESUMO

Accurate diagnosis of Müllerian duct anomalies (MDA) remains a clinical challenge even by direct surgical inspection. Although obstetrical complications are more frequent in women with MDA, some subtypes allow normal reproduction, further delaying the diagnosis. Unicornuate uterus with a rudimentary non-communicating functioning horn is a rare form of MDA, susceptible to many gynecologic and obstetric complications such as miscarriages, premature birth, hematosalpinx, endometriosis, and chronic pelvic pain. We present an entire case pictorial assay including preoperative imaging as well as the surgical correction of the uterine anomaly and the associated complication of an occult unicornuate right uterus with rudimentary non-communicating functioning left horn (Class U4aC0V0/ European Society of Human Reproduction and Embryology/European Society of Gastrointestinal Endoscopy Classification) and its natural evolution following a previous incomplete surgical treatment. The patient had an emergency left adnexectomy for hematosalpinx and ovarian endometrioma at her local county hospital. After five years, the patient presented with severe dysmenorrhea and abdominal endometriosis due to blocked retrograde menstruation from a rudimentary, non-communicating functioning horn. Surgical treatment with the resection of the rudimentary uterine horn, together with the abdominal wall endometriosis lesions, was carried out with good outcomes.

10.
Res Pract Thromb Haemost ; 8(1): 102339, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38426027

RESUMO

Background: Early reports have demonstrated an association of COVID-19 infection during pregnancy and postpartum period with coagulopathy and bleeding complications and indicated that pregnant people with COVID-19 are more likely to experience coagulopathy and venous thromboembolism. A recent report concerning such complications during the first wave of the pandemic was reassuring; however, no publications have evaluated these issues in the context of increased illness severity with the emergence of SARS-CoV-2 variants of concern. Objectives: We performed a retrospective, multinational cohort study in Canada, Romania, and the United Kingdom, aiming to provide a comprehensive analysis of the hematologic test characteristics of pregnancies affected by COVID-19 after the first wave of the pandemic. Results: Three-hundred-seventy patients were evaluated. Markers of inflammation and endothelial dysfunction were significantly elevated, in keeping with observations in the nonpregnant population. Reassuringly, despite more severe disease noted in succeeding waves of the pandemic, there was no significant evidence of COVID-19-associated coagulopathy, and overall, no association was demonstrated between isolated coagulation abnormalities and bleeding risk. Notably, fibrinogen below 2g/L was again linked with the risk of postpartum hemorrhage. Finally, venous thromboembolism risk was low but noted more frequently in those with severe illness despite thromboprophylaxis. Conclusion: Our findings add valuable insights into the nature of hematologic test characteristics, bleeding, and thrombotic complications for those affected with COVID-19 in pregnancy, reassuring readers of the low incidence of bleeding and thrombotic complications but inviting further debate as to the degree of thromboprophylaxis that may benefit the subgroup with severe disease.

11.
Int J Womens Health ; 16: 1041-1047, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38855357

RESUMO

Placental development is a complex process which sets the stage for normal fetal development. Any variation/disruption occurring during the initial stages of placental formation leads to placental malfunction causing increased maternal-fetal morbidity and mortality. The succenturiate lobe is a structural variation of the placenta that usually appears as a distinct lobe from the main placental mass. Succenturiate lobe is a rare placental anomaly, with high risk of fetal distress, hemorrhage, abruptio placentae and even fetal death because the vessels of this succenturiate lobe are vulnerable to both compression and laceration. Prenatal imaging diagnosis of this pathology improves the fetal prognosis through more careful surveillance and, in case of complications such as abruptio placentae, by shortening the time-to-decision making in favor of cesarean delivery. We present the case of a 27-year-old patient, without risk factors for placental abnormalities, diagnosed antenatally with succenturiate placenta, who presented at 34 weeks of pregnancy for abruptio placentae.

12.
Diagnostics (Basel) ; 13(2)2023 Jan 08.
Artigo em Inglês | MEDLINE | ID: mdl-36673040

RESUMO

It is rare to detect echogenic content in the fetal gallbladder. The etiology, natural course, and prognosis of this condition remain unclear. In addition to providing a systematic review of this topic, we suggest a plan for patient follow-up. From a total of 100 database entries identified in PubMed, EMBASE, and ICTRP reviews, we selected 34 studies in which we investigated the ultrasound features and outcome of this condition. There were 226 fetuses with gallbladder echogenic content identified. Seventy-two fetuses were found to have biliary sludge; thirty cases had a single hyperechogenic focus, and one hundred fetuses had multiple foci in the gallbladder. There were 16 cases of distal shadowing, 37 fetuses with comet tail and twinkling, and 26 cases with no acoustic artifacts. Nine cases of spontaneous resolution before birth have been documented; nine fetuses exhibited no echogenic content at birth, and 138 cases of resolution of echogenic content within the first year of life have been described. Typically, the condition resolves spontaneously during the postnatal period. After adequately reassuring the parents, the patients should be monitored for spontaneous resolution; medical or surgical intervention is not indicated. Asymptomatic patients can be managed with a wait-and-see strategy.

13.
Med Ultrason ; 25(4): 403-408, 2023 Dec 27.
Artigo em Inglês | MEDLINE | ID: mdl-37931011

RESUMO

BACKGROUND: Echogenic content in the fetal gallbladder is rather an incidental finding during third-trimester ultrasonography. The etiology, clinical course, and prognosis of this condition are still unclear. We highlight the demographic, clinical and ultrasound characteristics of our patients with echogenic content in the fetal gallbladder. METHODS: This is a retrospective single-center study conducted at the University of Medicine and Pharmacy Cluj-Napoca, Romania, between March 2022 and April 2023. All pregnant patients who were admitted to the hospital and had echogenic content in the fetal gallbladder detected by ultrasound were identified. The clinical and ultrasonography parameters were obtained from the databases of the ultrasound units and the medical records of the patients. RESULTS: Four patients were found to have echogenic content in the fetal gallbladder. The mean maternal age at diagnosis was 27.5 years (range 25-31). All patients had singleton pregnancies. The mean gestational age at diagnosis was 36.5 weeks (range 35-40). In all cases, the predominant aspect of echogenic content on ultrasound was multiple hyperechogenic foci; additionally, in one case, sludge was also observed. The mean maximal length of the hyperechogenic foci was 3.375 mm (range 1.6-5.4). All fetuses were delivered at full term, either vaginally or by cesarean section. The mean weight at birth was 3082.5 g (range 2800-3450). In all four cases, the EC disappeared spontaneously at birth. Neither of the four newborns displayed digestive symptoms or complications during the follow-up. CONCLUSION: The EC is still a medical mystery since little is known about its etiology and long-term outcome. Many cases are likely to be undetected until after birth; therefore, fetal gallbladder examination should be included in the US routine. The condition appears to be benign, and usually, it improves naturally after birth. Consecutively, asymptomatic newborns with EC can be managed through a wait-and-see approach.


Assuntos
Cálculos Biliares , Gravidez , Humanos , Recém-Nascido , Feminino , Adulto , Lactente , Estudos Retrospectivos , Cesárea , Ultrassonografia Pré-Natal/métodos , Feto , Idade Gestacional
14.
J Clin Med ; 12(7)2023 Apr 03.
Artigo em Inglês | MEDLINE | ID: mdl-37048762

RESUMO

Neonatal hemochromatosis (NH) is an uncommon, severe disorder that results in fetal loss or neonatal death due to liver failure. NH is currently regarded as the phenotypic expression of gestational alloimmune liver disease (GALD). The diagnosis of NH-GALD is rarely prenatally established. In addition to providing a systematic review of the prenatal features that are identifiable using ultrasound (US) and MRI, we suggest a prenatal diagnosis algorithm for use in suspected NH during the first affected pregnancy. From a total of 586 database entries identified in PubMed, Google Scholar, and ResearchGate, we selected 18 studies published from 1993 to 2021 that reported maternal medical and obstetric history, prenatal ultrasound findings, and postpartum outcomes. We investigated the ultrasound and MRI features of these studies, along with the outcome due to this condition. A total of 74 cases were identified. The main reported prenatal US finding was fetal growth restriction (FGR) (33%), followed by oligohydramnios (13%) and hydrops fetalis (13%), with 13% cases described as uneventful. Other rare prenatal findings were fetal anemia, ascites, and abnormal fetal liver and spleen. Most pregnancies ended with fetal/perinatal death or therapeutic interruption of pregnancy. Favorable evolution with treatment (ensanguine transfusion and intravenous immunoglobulin (IVIG)) was reported for only 7% of fetuses. Using T2-weighted MRI, fetal extrahepatic siderosis confirmed prenatally in two cases and postnatally in 11 cases. IVIG treatment throughout subsequent pregnancies was found to significantly improve fetal prognosis. MRI should be indicated in selected cases of oligohydramnios, fetal hydrops, fetal hepatomegaly, ascites, or unexplained FGR or anemia after ruling out all other more frequently encountered conditions. MRI can be used to detect iron overload in the liver and extrahepatic siderosis.

15.
Diagnostics (Basel) ; 13(6)2023 Mar 22.
Artigo em Inglês | MEDLINE | ID: mdl-36980508

RESUMO

Introduction: This research aims to describe a progressive pattern of ultrasound placental remodeling in patients with a history of SARS-CoV-2 infection during pregnancy. Materials and Methods: This was a longitudinal, cohort study which enrolled 23 pregnant women with a history of former mild SARS-CoV-2 infection during the current pregnancy. Four obstetricians analyzed placental ultrasound images from different gestational ages following COVID infection and identified the presence and degree of remodeling. We assessed the inter-rater agreement and the interclass correlation coefficients. Pathology workup included placental biometry, macroscopic and microscopic examination. Results: Serial ultrasound evaluation of the placental morphology revealed a progressive pattern of placental remodeling starting from 30-32 weeks of gestation towards term, occurring approximately 8-10 weeks after the SARS-CoV-2 infection. Placental changes-the "starry sky" appearance and the "white line" along the basal plate-were identified in all cases. Most placentas presented normal subchorionic perivillous fibrin depositions and focal stem villi perivillous fibrin deposits. Focal calcifications were described in only 13% of the cases. Conclusions: We identified two ultrasound signs of placental remodeling as potential markers of placental viral shedding following mild SARS-CoV-2. The most likely pathology correspondence for the imaging aspect is perivillous and, respectively, massive subchorionic fibrin deposits identified in most cases.

16.
Cancers (Basel) ; 15(6)2023 Mar 22.
Artigo em Inglês | MEDLINE | ID: mdl-36980780

RESUMO

(1) Background: Multigene panel testing for Hereditary Breast and Ovarian Cancer (HBOC) using next generation sequencing (NGS) is becoming a standard in medical care. There are insufficient genetic studies reported on breast cancer (BC) patients from Romania and most of them are focused only on BRCA 1/2 genes (Breast cancer 1/2). (2) Methods: NGS was performed in 255 consecutive cases of BC referred for management in our clinic between 2015-2019. (3) Results: From the 171 mutations identified, 85 were in the high-penetrance BC susceptibility genes category, 72 were pathogenic genes, and 13 genes were in the (variants of uncertain significance) VUS genes category. Almost half of the mutations were in the BRCA 1 gene. The most frequent BRCA1 variant was c.3607C>T (14 cases), followed by c.5266dupC (11 cases). Regarding BRCA-2 mutations we identified c.9371A>T (nine cases), followed by c.8755-1G>A in three cases, and we diagnosed VUS mutations in three cases. We also identified six pathogenic variants in the PALB2 gene and two pathogenic variants in (tumor protein P 53) TP53. (4) Conclusions: The majority of pathogenic mutations in the Romanian population with BC were in the BRCA 1/ 2 genes, followed by PALB2 (partner and localizer of BRCA2) and TP53, while in the CDH1 (cadherin 1) and STK11 (Serine/Threonine-Protein Kinase) genes we only identified VUS mutations.

17.
Diagnostics (Basel) ; 13(19)2023 Sep 25.
Artigo em Inglês | MEDLINE | ID: mdl-37835791

RESUMO

A growing body of evidence suggests that endometrial immune disorders may be responsible for endometrial dysfunctions that can lead to gynecological and obstetrical pathology. The aim of this study was to explore the potential relationship between different killer cell immunoglobulin-like receptor (KIR) genotypes and reproductive outcomes. We conducted a prospective cohort study that included 104 infertile patients undergoing an in vitro fertilization procedure. All participants underwent clinical and ultrasound examination, genetic evaluation (KIR genotyping), endometrial washing fluid sampling for cytokine determination, endometrial tissue sampling for histologic assessment and hysteroscopic evaluation. Our analysis showed statistically significant lower levels of uterine cytokines TNF-α (p = 0.001) and IL-1beta (p = 0.000) in the KIR AA genotype group as compared to KIR AB and BB among study participants with chronic endometritis. The study results suggest that the KIR AA genotype population subgroups may be more susceptible to developing endometrial disorders such as chronic endometritis. The changes in the behavior of NK cells seem to be subtle and expressed as an altered regulatory pattern.

18.
Med Ultrason ; 24(2): 245-247, 2022 May 25.
Artigo em Inglês | MEDLINE | ID: mdl-34113935

RESUMO

We present the first trimester prenatal ultrasonography and pathological assessment of a case diagnosed with limb-body wall complex (LBWC) presenting both exenchephaly and a complex thoraco-abdominal wall defect. Ectopia cordis is demonstrated with a movie showing the heart beating outside the body of the fetus after its expulsion. Also, we discuss the pathogenesis and possible etiology of LBWC and associated malformations and we provide an update of the literature of this very rare anomaly.


Assuntos
Anormalidades Múltiplas , Ectopia Cordis , Deformidades Congênitas dos Membros , Anormalidades Múltiplas/diagnóstico por imagem , Ectopia Cordis/complicações , Ectopia Cordis/diagnóstico por imagem , Ectopia Cordis/patologia , Feminino , Humanos , Deformidades Congênitas dos Membros/etiologia , Gravidez , Primeiro Trimestre da Gravidez , Ultrassonografia Pré-Natal
19.
Exp Ther Med ; 23(1): 102, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34976144

RESUMO

Severe acute respiratory distress syndrome with coronavirus 2 (SARS-CoV-2) infection affected pregnant women during the pandemic. Immunological particularity of this population and the increased need for medical assistance placed this population in a high-risk category for SARS-Cov-2 infection. Owing to high contamination risk and limited studies regarding vertical transmission, the labor and delivery of positive women required particular conditions. Cesarean section probably proved to be the optimal option for delivery of infants to reduce the risk of infection during birth. The aim of the present study was to present the management and outcome of infants born to mothers confirmed with coronavirus disease 2019 (COVID 19) prior to delivery. This is a longitudinal, retrospective study, analyzing demographics, laboratory data and management of neonates born to mothers with diagnosis of SARS-Cov-2 infection. The results showed that 5 neonates were born to SARS-Cov-2-positive mothers, all by Cesarean section and had a negative reverse transcription-quantitative polymerase chain reaction (RT-qPCR) test. None of the women breastfed during the hospital stay. The negative RT-qPCR test allowed us to reduce the hospital stay of infants and care in non-isolated areas. In summary, in the present study, vertical or perinatal transmission of the infection was not present. The testing of the pregnant women, their isolation and delivery in safe conditions for the medical staff were possible, with the latter using adequate protection equipment to limit their infection and the risk for the newborns.

20.
Med Ultrason ; 24(3): 364-368, 2022 Aug 31.
Artigo em Inglês | MEDLINE | ID: mdl-35045142

RESUMO

Fetal cardiac rhabdomyomas should trigger the awareness of a potential coexisting tuberous sclerosis complex that can lead to a poor neurological outcome. This condition is not only uncommon but can be easily unrecognized prenatally in the absence of a meticulous neurosonogram and MRI. We emphasize that careful consideration of all prenatal facilities is required to confirm the diagnosis of tuberous sclerosis complex as early as possible during pregnancy.


Assuntos
Neoplasias Cardíacas , Rabdomioma , Esclerose Tuberosa , Feminino , Neoplasias Cardíacas/complicações , Neoplasias Cardíacas/diagnóstico por imagem , Humanos , Gravidez , Diagnóstico Pré-Natal , Rabdomioma/complicações , Rabdomioma/diagnóstico por imagem , Esclerose Tuberosa/complicações , Esclerose Tuberosa/diagnóstico por imagem , Ultrassonografia Pré-Natal
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