Publications by authors named "Ioan Gherghina"
Birth asphyxia is a severe condition that includes a number of potential pathways of occurrence both and during childbirth. The present study aimed to identify and describe specific macroscopic and microscopic placental injuries in birth asphyxia to serve as an effective tool to stratify the potential further evolution of a newborn, as hypoxic ischemic encephalopathy can be responsible for neonatal death or severe neurological sequelae further, compromising the quality of life of the affected individual. For this purpose, an observational prospective study was conducted over a period of 3 years.
View Article and Find Full Text PDFArticle Synopsis
- Familial hypercholesterolemia (FH) is an underdiagnosed genetic condition that increases the risk of early cardiovascular issues, highlighting the need for early interventions in children.
- An interventional study with 10 patients showed that those without FH achieved significant lipid level improvements through lifestyle changes alone, while genetically confirmed FH patients did not see similar benefits without medication.
- The study emphasizes the critical role of genetic testing for FH in guiding treatment decisions, as it may not be routinely included in current screening practices.
There is an increasing interest in dyslipidemia in adult patients since it is known to contribute to early cardiovascular disease. Often, dyslipidemia starts in childhood, and it is associated with aggravating lifestyle choices concerning eating habits, such as the tendency to consume processed food and fast food, as well as the tendency to be more and more sedentary. We conducted a retrospective cross-sectional study describing the prevalence of dyslipidemia in a single medical center in Romania and the associated pathology.
View Article and Find Full Text PDFArticle 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.
Background And Aims: The aim of this study is to assess the lipid profile pattern of pediatric overweight and/or obese patients with Non-Alcoholic Fatty Liver Disease (NAFLD) in relation to IDF Consensus Criteria for Metabolic Syndrome (MetS).
Material And Methods: We conducted a cross-sectional preliminary study on 45 consecutive pediatric patients. Overweight or obese children aged from 3 to 18 years were included.
Bruton's agammaglobulinemia is a rare X-linked humoral immunodeficiency manifesting with recurrent bacterial infections early in life. Klinefelter's syndrome caused by an additional X chromosome is the most common sex chromosome disorder. A previously unreported association of these two conditions is described here.
View Article and Find Full Text PDFPrimary immunodeficiency disorders are a recognized public health problem worldwide. The prototype of these conditions is X-linked agammaglobulinemia (XLA) or Bruton's disease. XLA is caused by mutations in Bruton's tyrosine kinase gene (BTK), preventing B cell development and resulting in the almost total absence of serum immunoglobulins.
View Article and Find Full Text PDF