58 results match your criteria: "National Institute of Mother and Child[Affiliation]"

Introduction: Congenital heart disease (CHD) is diagnosed with high prevalence. Pulse oximetry and clinical examination are screening tools to aid in obtaining a CHD diagnosis.

Materials And Methods:  We conducted a retrospective longitudinal study over three years, screening 1188 newborns admitted to the neonatal intensive care unit (NICU) during the first 72 hours of life.

View Article and Find Full Text PDF

Background/aim: Ovarian cancer remains a major cause of death in women worldwide, mainly due to late diagnosis and the lack of a reliable screening test for early detection of the disease. In this context, attention has been focused on the identification of other prognostic factors that might allow a better identification of cases with worse long-term outcome.

Patients And Methods: Data of patients who underwent cytoreductive surgery between 2014-2019 were retrospectively reviewed and 57 patients were considered eligible for this study.

View Article and Find Full Text PDF

Endometrial cancer is a complex disease influenced by both somatic and germline mutations. While individual mutations in genes such as , and members of the DNA mismatch repair (MMR) system have been extensively studied, comprehensive analyses comparing somatic and germline mutations within the same cohort are limited. This study compares these mutations using whole exome sequencing (WES) data from tumor and blood samples in patients with endometrial cancer.

View Article and Find Full Text PDF

Lynch Syndrome-associated Genomic Variants.

J Gastrointestin Liver Dis

September 2024

Dept. of Obstetrics and Gynecology, Carol Davila University of Medicine and Pharmacy, Bucharest; Dept. of Obstetrics and Gynecology, Alessandrescu-Rusescu National Institute of Mother and Child Health, Bucharest, Romania.

Article Synopsis
  • Lynch Syndrome, linked to mutations in mismatch repair (MMR) genes, is a major factor in both colorectal and endometrial cancers, but the genetic details of these connections are not fully understood.
  • This study utilized whole exome sequencing from 13 patients with Lynch syndrome-associated endometrial cancer to compare germline and somatic mutations, identifying thousands of variants and confirming the role of specific pathogenic mutations.
  • Findings include shared mutations in MMR genes and new somatic mutations in the PIK3CA and PTEN genes, suggesting potential targeted treatment approaches for these cancers.
View Article and Find Full Text PDF

: Gallbladder cancer (GBC) is a rare entity with a poor prognosis, usually discovered late due to nonspecific symptoms; therefore, over the last years, attention has been focused on identifying the risk factors for developing this malignancy in order to provide an early diagnosis, as well as new prognostic factors in order to modulate the long-term evolution of such cases. The aim of this review is to discuss both major risk factors and prognostic factors in GBC for a better understanding and integration of relevant and currently available information. : A literature search was performed using Cochrane Library, PubMed, Google Scholar, Elsevier, and Web of Science; studies published after the year of 2000, in English, were reviewed.

View Article and Find Full Text PDF

Background: Despite improving surgical techniques and achieving more often complete debulking procedures, certain patients with advanced-stage ovarian cancer still have a very poor prognosis. The aim of the current paper is to investigate whether inflammatory and nutritional status can predict the long-term outcomes of ovarian cancer patients.

Methods: A retrospective analysis of 57 cases diagnosed with advanced-stage ovarian cancer submitted to surgery as first intent therapy was carried out.

View Article and Find Full Text PDF

Nanoparticle-Patch System for Localized, Effective, and Sustained miRNA Administration into Infarcted Myocardium to Alleviate Myocardial Ischemia-Reperfusion Injury.

ACS Nano

July 2024

Institute of Geriatrics (Shanghai University), Affiliated Nantong Hospital of Shanghai University (The Sixth People's Hospital of Nantong) and School of Life Science, Shanghai University, Nantong 226011, China.

Timely blood reperfusion after myocardial infarction (MI) paradoxically triggers ischemia-reperfusion injury (I/RI), which currently has not been conquered by clinical treatments. Among innovative repair strategies for myocardial I/RI, microRNAs (miRNAs) are expected as genetic tools to rescue damaged myocardium. Our previous study identified that miR-30d can provide protection against myocardial apoptosis and fibrosis to alleviate myocardial injury.

View Article and Find Full Text PDF

Ovarian cancer remains one of the most lethal gynaecological malignancies affecting women worldwide; therefore, attention has been focused on identifying new prognostic factors which might help the clinician to select cases who could benefit most from surgery versus cases in which neoadjuvant systemic therapy followed by interval debulking surgery should be performed. The aim of the current paper is to identify whether preoperative inflammation could serve as a prognostic factor for advanced-stage ovarian cancer. Material and methods: The data of 57 patients who underwent to surgery for advanced-stage ovarian cancer between 2014 and 2020 at the Cantacuzino Clinical Hospital were retrospectively reviewed.

View Article and Find Full Text PDF

Particular aspects of treating rectal cancer: The watch and wait approach.

J Cancer Res Ther

April 2023

General Surgery Department, Bagdasar-Arseni Emergency Hospital; 10th Department of Surgery, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania.

Background: Rectal cancer is one of the most common malignant pathologies worldwide. Currently, the standard treatment of this pathology consists of radio-chemotherapy followed by low anterior resection with total mesorectal excision or abdominoperineal proctectomy for medium/low rectal cancer.

Objectives: In recent years, another treatment strategy has been proposed, stemming from the finding that up to 40% of patients receiving neoadjuvant treatment had a complete pathological response.

View Article and Find Full Text PDF

Human adenovirus causes infections with a very heterogeneous clinical picture, and children are often the most frequently affected group. Interest in adenovirus has increased with the 2022 outbreak of severe acute hepatitis of unknown etiology as human adenovirus was considered as one of the possible etiological agents. We conducted a retrospective study over a 5-year period in two major tertiary hospitals in the Romanian capital with the aim to characterize the clinical picture and the dynamics of liver function tests in children with confirmed adenovirus infection.

View Article and Find Full Text PDF

This study aimed to identify the incidence of fertilization (IVF) in late preterm infants and the presence of respiratory pathology in this premature category compared with those conceived naturally. This retrospective study was performed over 6 months, including newborns with a gestational age between 34-36 weeks and 6 days in the Department of Obstetrics, Gynecology and Neonatology, Alessandrescu-Rusescu National Institute of Mother and Child Health. The following variables were assessed: infants' gestational age, delivery mode, respiratory morbidity, and the need for respiratory support.

View Article and Find Full Text PDF

Fibular hemimelia is defined as a partial or complete absence of the fibula. Alongside fibular deformities, there is a wide spectrum of anomalies, foot deformities, and absent rays. A literature review showed only a handful of cases of prenatal diagnosis of fibular hemimelia.

View Article and Find Full Text PDF

Twin pregnancy contributes to perinatal mortality, particularly monochorionic diamniotic twin pregnancy. Placental abnormalities are much more common in twin pregnancies than in singletons. In MCDA pregnancy, vascular anastomoses are always present and are accountable for severe complications such as Twin-to-Twin transfusion syndrome (TTTS).

View Article and Find Full Text PDF

Background/aim: The aim of the study was to report the case of a 5-month-old boy with a complex prenatal and neonatal symptomatology diagnosed with a "de novo" pathogenic variant of PUF60 gene.

Case Report: Our hospital, undertook the antenatal and postnatal care of a 27-year-old pregnant lady. This was her second baby with a previously healthy boy.

View Article and Find Full Text PDF

Background/aim: Locally advanced pancreatic cancer has been considered for a long period of time as an unresectable lesion and therefore, all patients have been traditionally addressed to the oncological services for palliative purposes. However, due to the wide usage of newer oncological agents in association with improved surgical techniques, radical surgical procedures became feasible. The aim of this study was to present the different surgical procedures that were performed in locally advanced pancreatic cancer patients in order to achieve radical resections.

View Article and Find Full Text PDF

Spina bifida is a disorder characterized by failure of the neural tube to form during embryological development. The early signs in the head and spine may be detected on ultrasound from 11 weeks of gestation. Diabetes is a well-known teratogen factor that increases the chances of birth defects, such as neural tube defects.

View Article and Find Full Text PDF

Gestational pituitary apoplexy is an extremely rare condition. It is characterised by an unexpected headache, vomiting, nausea, and visual disturbances. Pituitary apoplexy in pregnancy and postpartum is a challenging diagnosis with symptoms overlapping multiple conditions.

View Article and Find Full Text PDF

Headache is a common complaint during pregnancy and the puerperium. The differentiation between a benign headache and a headache that has an underlying more endangering cause, such as an intracranial tumor, can be difficult and often requires diagnostic procedures and brain imaging techniques. We report the case of an 18-year-old female patient who developed clinical symptoms-persistent headache followed by neurological deficit-in the last part of her pregnancy.

View Article and Find Full Text PDF

Tracheal atresia is an extremely rare condition whereby a partial or total obstruction of the trachea is seen. It is almost always lethal, with just a handful of cases that ended with a good outcome. In this study we report on a 15-week male fetus, diagnosed with hyperechogenic lungs, midline heart position and inverted diaphragm.

View Article and Find Full Text PDF

Mirror syndrome (MS) or Ballantyne's syndrome is a rare maternal condition that can be life-threatening for both mother and fetus. The condition is characterized by maternal signs and symptoms similar to those seen in preeclampsia in the setting of fetal hydrops. Despite recent advances in the field of maternal-fetal medicine, the etiopathogenesis of MS remains elusive.

View Article and Find Full Text PDF

Peritoneal carcinomatosis, as well as the presence of liver metastases from colorectal cancer, has been long considered as the sign of a systemic disease, transforming the patient into a candidate for palliation and best supportive care. However, in recent decades, progress in the field of medical and surgical oncology has allowed scientists worldwide to produce curative therapeutic strategies for these cases such as hyperthermic intraperitoneal chemotherapy (HIPEC) or extended liver resection. In addition, the association of these two therapies has also been performed with encouraging results.

View Article and Find Full Text PDF

The use of the PARP inhibitors (PARPi) in the treatment of breast cancer (BC) with germine mutations has evolved over the years, and further research has been done in order to broaden the horizon of this treatment strategy. Therefore the aim of this paper is to review the efficiency of PARPi in the treatment of BRCA 1/2-mutated locally advanced and metastatic Her-2/net negative BC mentioning their side effects, mechanism of resistance and future directions. Inhibition of PARP transforms single-strand breaks into double-strand breaks (DBS), the accumulation of the latter causing cell death (cell apoptosis).

View Article and Find Full Text PDF

The study aimed to identify certain factors related to family history, pathological conditions, or exposure-type that are significantly correlated with recurrent wheezing and/or asthma in children. One hundred nine children with recurrent wheezing and 44 children with asthma were studied in order to identify the degree of correlation of these conditions with familial history of asthma or atopy, child's age group, gender, premature birth, perinatal asphyxia, neonatal infection, and antibiotic treatment during the neonatal period, history of atopy and obesity and histamine intolerance, nasopharyngeal bacterial colonization, pneumonia with bronchospasm. The clinical picture of these two diseases was also compared regarding the severity of exacerbations and their response to controller therapy.

View Article and Find Full Text PDF

Pancreatic head cancer is frequently associated with invasion of the surrounding vascular structures, such cases being considered for a long period of time as unresectable. Improvement of the vascular surgery techniques allowed association of extended vascular resections and reconstructions, increasing in this way the percentage of patients benefiting from radical surgery. We present the case of a 47-year-old male patient with no significant medical history diagnosed with a large pancreatic head tumor invading the common and proper hepatic artery as well as the portal vein.

View Article and Find Full Text PDF

Editorial: MicroRNA Signaling.

Front Cell Dev Biol

October 2020

Alessandrescu-Rusescu National Institute of Mother and Child Health, Fetal Medicine Excellence Research Center, Bucharest, Romania.

View Article and Find Full Text PDF