Publications by authors named "Gabriela Paduraru"

Background: Despite worldwide vaccination efforts, Hepatitis B virus (HBV) infection remains a significant global health burden, particularly in regions where vertical transmission is prevalent. Given Romania's history as an endemic area for hepatitis B from the 1990s until the early 2000s and the previously high infection rates among children, it is crucial to continually evaluate HBV infection in this population to monitor current trends, assess the long-term impact of vaccination programs, and address any remaining gaps in prevention and treatment efforts. This study aims to identify childhood risk factors associated with HBV acquisition, examining the role of maternal HBV status in child HBV infection, focusing on vertical transmission among a cohort of 654 children, with maternal infection as the independent variable and child infection as the dependent variable.

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Maturity-onset diabetes of the young (MODY) is part of the heterogeneous group of monogenic diabetes (MD) characterized by the non-immune dysfunction of pancreatic β-cells. The diagnosis of MODY still remains a challenge for clinicians, with many cases being misdiagnosed as type 1 or type 2 diabetes mellitus (T1DM/T2DM), and over 80% of cases remaining undiagnosed. With the introduction of modern technologies, important progress has been made in deciphering the molecular mechanisms and heterogeneous etiology of MD, including MODY.

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Article Synopsis
  • - Congenital hyperinsulinism (CHI) is a rare disorder primarily affecting glucose metabolism, leading to severe hypoglycemia, especially in newborns and young children; it often results from mutations in genes related to ATP-sensitive potassium channels.
  • - In two case studies, distinct genetic mutations in patients with early-onset hyperinsulinemic hypoglycemia showed varying clinical presentations: one with a severe diffuse form linked to a homozygous mutation, and the other with a focal form linked to a heterozygous mutation.
  • - The importance of molecular genetic testing is highlighted for diagnosing and managing CHI, as it can guide treatment options and emphasize the need for genetic counseling for affected families.
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Viral infections have always been considered a threat to global health, with numerous outbreaks across time. Despite the relative recent experience with coronavirus-associated diseases such as severe acute respiratory syndrome (SARS) and Middle East respiratory syndrome (MERS), severe acute respiratory syndrome-2's (SARS-CoV-2) continuous evolution displays a different behavior. With a tropism for both respiratory and digestive mucosa, coronavirus disease 2019 (COVID-19) and inflammatory bowel disease (IBD) seem to share a particular common background.

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The gut microbiota is emerging as an important contributor to the homeostasis of the human body through its involvement in nutrition and metabolism, protection against pathogens, and the development and modulation of the immune system. It has therefore become an important research topic in recent decades. Although the association between intestinal dysbiosis and numerous digestive pathologies has been thoroughly researched, its involvement in pancreatic diseases constitutes a novelty in the specialized literature.

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Foreign body aspiration (FBA) is a frequent diagnosis in children. In the absence of other lung conditions, such as asthma or chronic pulmonary infections, this manifests as a sudden onset of cough, dyspnea, and wheezing. The differential diagnosis is based on a scoring system which takes into account the clinical picture as well as the radiologic aspects.

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The gastrointestinal (GI) tract is one of the most studied compartments of the human body as it hosts the largest microbial community including trillions of germs. The relationship between the human and its associated flora is complex, as the microbiome plays an important role in nutrition, metabolism and immune function. With a dynamic composition, influenced by many intrinsic and extrinsic factors, there is an equilibrium maintained in the composition of GI microbiota, translated as "eubiosis".

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Background and Objectives: The aim of this study was to investigate the association between H. pylori positivity with specific symptoms, risk factors and endoscopic patterns among the pediatric population in northeastern Romania. Materials and Methods: A prospective study was performed in 18 months on 185 children aged 6−18 years with an indication for upper digestive endoscopy.

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The presence of pancreatic cancer during childhood is extremely rare, and physicians may be tempted to overlook this diagnosis based on age criteria. However, there are primary malignant pancreatic tumors encountered in pediatric patients, such as pancreatoblastoma, and tumors considered benign in general but may present a malignant potential, such as the solid pseudo-papillary tumor, insulinoma, gastrinoma, and vasoactive intestinal peptide secreting tumor. Their early diagnosis and management are of paramount importance since the survival rates tend to differ for various types of these conditions.

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Gastroesophageal reflux (GER) is the intermittent or permanent passage of stomach content into the esophagus and gastroesophageal reflux disease (GERD) is the reflux which triggers a whole set of symptoms or complications. The study compares the 24-hours esophageal pH-metry, used for diagnosis of the GERD, with the esophagitis degree observed at the upper digestive endoscopy.72 children were included, aged over 4 years old, admitted in a pediatric gastroenterology regional center in Northeast Romania, diagnosed with GERD by 24 hours pH-metry (with a positive Boix-Ochoa score), which also underwent the upper digestive endoscopy.

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The 24-hour esophageal pH-metry is the most widely used method to diagnose the gastroesophageal reflux disease (GERD). The study compares the different scores obtained during the 24-hour esophageal pH-metry. A retrospective study over 5 years including 234 children (1 month and 18 years old) admitted in a pediatric gastroenterology regional center in Northeast Romania, with suspicion of GERD.

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Heterotopic gastric mucosa (HGM) of the esophagus is a congenital anomaly consisting of ectopic gastric mucosa. It may be connected with disorders of the upper gastrointestinal tract, exacerbated by Helicobacter pylori. The diagnosis of HGM is confirmed via endoscopy with biopsy.

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The paper presents a family with hereditary transmitted Marie-Sainton dysplasia affecting the father and his both children. This is a rare syndrome presenting an autosomal pattern of inheritance, characterized by a generalized defect in both membranous and endochondral bone formation resulting in clavicular aplasia, delayed ossification of the fontanelles and the sutures of the skull and prolonged retention of deciduous dentition with delayed eruption of the permanent teeth. The diagnosis is suggested by more or less complete clinical picture and confirmed by multiple radiological explorations (skull, thorax, spinal column, pelvis) and genetical examination.

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An unusual association between an arachnoid cyst and a decompensated pyloric stenosis in a three years-old boy is presented. The little patient was admitted into hospital with haematemesis, melena, influenced generally condition and acute posthemorrhagic anaemia following aspirin intake for hypertermia. Specific intensive care was successful and the little patient was discharged but without an upper digestive endoscopy(parents refusal, technical reasons).

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