176 results match your criteria: "National Institute for Mother and Child Health "Alessandrescu-Rusescu"[Affiliation]"

Article Synopsis
  • Lesch-Nyhan syndrome (LNS) is a rare genetic disorder caused by a mutation in the HPRT1 gene on the X chromosome, leading to symptoms such as dystonia, developmental delay, hyperuricemia, and self-harm.
  • A case study of a 20-month-old boy with LNS revealed that his epileptic seizures were initially mistaken for sleep apnea by his parents, necessitating the use of long-term video-EEG monitoring for accurate diagnosis.
  • While treatment of seizures with Levetiracetam was successful, managing behavioral issues remains difficult, highlighting the need for careful monitoring and thorough patient history in cases of LNS, especially given the uncommon occurrence of epilepsy in these patients.
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Objectives: To determine risk factors for primary and secondary adverse neonatal outcomes in newborns with congenital SARS-CoV-2 infection.

Data Sources: PubMed/MEDLINE and Google Scholar from January 2020 to January 2022.

Study Eligibility Criteria: newborns delivered after 24 weeks of gestation with confirmed/possible congenital SARS-CoV-2 infection, according to standard classification criteria.

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Mast cells (MCs) are infamous for their role in potentially fatal anaphylaxis reactions. In the last two decades, a more complex picture has emerged, as it has become obvious that MCs are much more than just IgE effectors of anaphylaxis. MCs are defenders against a host of infectious and toxic aggressions (their interactions with other components of the immune system are not yet fully understood) and after the insult has ended, MCs continue to play a role in inflammation regulation and tissue repair.

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Background And Objectives: The premature birth of a newborn can present a complex challenge for healthcare providers, particularly in cases of extreme prematurity combined with intrauterine growth restriction and multiple metabolic deficiencies. In this report, we aim to shed light on the difficulties and considerations involved in the management of such a case. In addition, our study is aimed to raise awareness of the importance of a multidisciplinary team in managing an extreme premature case with multiple comorbidities.

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Article Synopsis
  • Familial hypercholesterolemia (FH) is a genetic disorder leading to high LDL-cholesterol, increasing risks of cardiovascular issues later in life, particularly in adults.
  • A study tested 20 Romanian children with elevated LDL-cholesterol levels at a specialized health institute, using the Illumina TruSight Cardio panel for genetic analysis.
  • Results showed that 5 out of 20 patients had identifiable pathogenic genetic variants linked to FH, indicating that early diagnosis through lipid screening could be crucial for prevention.
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Down syndrome is the most common chromosomal abnormality diagnosed in newborn babies. Infants with Down syndrome have characteristic dysmorphic features and can have neuropsychiatric disorders, cardiovascular diseases, gastrointestinal abnormalities, eye problems, hearing loss, endocrine and hematologic disorders, and many other health issues. We present the case of a newborn with Down syndrome.

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Preeclampsia (PE) is a pregnancy-related disorder that significantly increases the risk of maternal and fetal morbidity and mortality. Melatonin, a potent antioxidant, has been suggested to mitigate oxidative stress and associated damage in various pathological conditions. Placental growth factor (PlGF) plays a vital role in placental development by promoting angiogenesis.

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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.

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Puberty menorrhagia is one of the urgent problems of modern reproductive medicine. The study aimed to investigate the relationship between polymorphism of the GP IIIa (PLA1/PLA2) gene and improve the diagnosis of puberty menorrhagia in girls with thyroid gland pathology. Ninety-seven girls at puberty age were divided into three groups: group 1 (main) - girls with puberty menorrhagia and thyroid gland pathology (30 individuals), group 2 (comparison) - 40 girls with puberty menorrhagia, group 3 (control) - 27 practically healthy girls.

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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.

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Childhood obesity has been increasing at a worrisome pace and emerging as a non-infectious pandemic in the pediatric population in recent years. Raising awareness on this problem is of utmost importance, in order to take action to control body weight from an early age. We performed a retrospective study among overweight or obese children evaluated on an outpatient basis in the Department of Pediatric Endocrinology of a tertiary care hospital in Bucharest Romania in 2021 in order to identify laboratory changes occurring according to age and sex.

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Thyroid hormones are required for the physiological growth and maintenance of hair follicles. We aim to study the thyroid profile of patients with alopecia. This is a narrative review.

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We used Jones-matrix images of protein networks of blood plasma films obtained from laser autofluorescence and determined the sensitivity, specificity, accuracy, and prognostication of positive and negative results. Our study aimed (1) to develop and substantiate new approaches for the diagnosis of endometriosis by improving the methods of Jones-matrix mapping of laser-induced auto-fluorescence and (2) to develop statistical approaches for analyzing the distribution of values of the true component of Jones-matrix images of blood plasma. Biological preparations were performed for two groups: 35 samples from control group 1 (women with infertility of unknown origin) and 85 samples from group 2 with endometriosis (women with infertility and endometriosis).

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This review presents current updates of pancreatic enzyme replacement therapy in children with cystic fibrosis based on literature published in the last decade and some special considerations regarding pancreatic enzyme replacement therapy in the era of new therapies, such as cystic fibrosis transmembrane conductance regulator modulator therapies. Few articles evaluate the efficacy of pancreatic enzyme replacement therapy in the pediatric population, and most studies also included children and adults with cystic fibrosis. Approximately 85% of cystic fibrosis patients have exocrine pancreatic insufficiency and need pancreatic enzyme replacement therapy.

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Severe acute respiratory syndrome virus 2 (SARS-CoV-2), the virus that causes 2019 coronavirus disease (COVID-19), has been isolated from various tissues and body fluids, including the placenta, amniotic fluid, and umbilical cord of newborns. In the last few years, much scientific effort has been directed toward studying SARS-CoV-2, focusing on the different features of the virus, such as its structure and mechanisms of action. Moreover, much focus has been on developing accurate diagnostic tools and various drugs or vaccines to treat COVID-19.

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During the first half of 2022, the World Health Organization reported an outbreak of acute severe hepatitis of unknown aetiology (AS-Hep-UA) in children, following initial alerts from the United Kingdom (UK) where a cluster of cases was first observed in previously well children aged <6 years. Sporadic cases were then reported across Europe and worldwide, although in most countries incidence did not increase above the expected baseline. There were no consistent epidemiological links between cases, and microbiological investigations ruled out known infectious causes of hepatitis.

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Multiple sclerosis is an increasingly prevalent disease, representing the leading cause of non-traumatic neurological disease in Europe and North America. The most common symptoms include gait deficits, balance and coordination impairments, fatigue, spasticity, dysphagia and an overactive bladder. Neurorehabilitation therapeutic approaches aim to alleviate symptoms and improve the quality of life through promoting positive immunological transformations and neuroplasticity.

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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.

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This review article explores the telocytes' roles in inflammatory bowel diseases (IBD), presenting the mechanisms and hypotheses related to epithelial regeneration, progressive fibrosis, and dysmotility as a consequence of TCs' reduced or absent number. Based on the presented mechanisms and hypotheses, we aim to provide a functional model to illustrate TCs' possible roles in the normal and pathological functioning of the digestive tract. TCs are influenced by the compression of nearby blood vessels and the degree of fibrosis of the surrounding tissues and mediate these processes in response.

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Pathogenic RIPK1 variants have been described as the cause of two different inborn errors of immunity. Biallelic loss-of-function variants cause the recessively inherited RIPK1 deficiency, while monoallelic variants impairing the caspase-8-mediated RIPK1 cleavage provoke a novel autoinflammatory disease (AID) called cleavage-resistant RIPK1-induced autoinflammatory (CRIA) syndrome. The aim of this study was to characterize the pathogenicity of two novel RIPK1 variants located at the cleavage site of caspase-8 detected in patients with dominantly-inherited, early-onset undefined AID.

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