Mihai Ioana
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Diagnostic and Prognostic Potential of Tetranectin in Heart Failure and Cardiovascular Disease: A Systematic Review Open
Background: Tetranectin (CLEC3B), a plasminogen-binding protein involved in fibrinolysis and tissue remodeling, has been increasingly studied as a potential diagnostic and prognostic biomarker in cardiovascular disease (CVD). This review s…
An Epidemiological Survey of Sepsis in a Tertiary Academic Hospital from Southwestern Romania Open
Background and Objectives: Sepsis is one of the major causes of death in modern society. This study is part of the FUSE (Functional Genomics in Severe Sepsis) project under the Human Functional Genomics Romania initiative. Our aim was to a…
View article: Impaired resolution of blood transcriptomes through tuberculosis treatment with diabetes comorbidity
Impaired resolution of blood transcriptomes through tuberculosis treatment with diabetes comorbidity Open
Background People with diabetes are more likely to develop tuberculosis (TB) and to have poor TB‐treatment outcomes than those without. We previously showed that blood transcriptomes in people with TB‐diabetes (TB‐DM) co‐morbidity have exc…
Genetic Testing for Familial Hypercholesterolemia in a Pediatric Group: A Romanian Showcase Open
Familial hypercholesterolemia (FH) is a genetic disease marked by high levels of LDL-cholesterol. This condition has long-term clinical implications, such as cardiovascular events, that are evident during adult life. Here, we report on a s…
PAH Pathogenic Variants and Clinical Correlations in a Group of Hyperphenylalaninemia Patients from North-Western Romania Open
Phenylketonuria (PKU) is caused by mutations in the phenylalanine hydroxylase (PAH) gene and is characterized by altered amino acid metabolism. More than 1500 known PAH variants intricately determine a spectrum of metabolic phenotypes. We …
Apolipoprotein E polymorphism in a Romanian population Open
Background: Apolipoprotein E (ApoE) is a ubiquitous protein involved in maintaining cholesterol homeostasis and lipoprotein clearance from circulation. It is coded by three alleles (ε2, ε3, ε4) with six genotypes (ε3/ε3, ε3/ε4, ε2/ε3, ε4/ε…
First Trimester Ultrasound Detection of Fetal Central Nervous System Anomalies Open
Objective: To evaluate the potential of the first-trimester ultrasound (US) features for the detection of central nervous system (CNS) anomalies. Methods/Methodology: This is a prospective one-center three-year study. Unselected singleton …
Non-Syndromic Hearing Loss in a Romanian Population: Carrier Status and Frequent Variants in the GJB2 Gene Open
The genetic causes of autosomal recessive nonsyndromic hearing loss (ARNSHL) are heterogeneous and highly ethnic-specific. We describe GJB2 (connexin 26) variants and carrier frequencies as part of our study and summarize previously report…
Pathogenic Copy Number Variations Involved in the Genetic Etiology of Syndromic and Non-Syndromic Intellectual Disability—Data from a Romanian Cohort Open
The investigation of unexplained global developmental delay (GDD)/intellectual disability (ID) is challenging. In low resource settings, patients may not follow a standardized diagnostic process that makes use of the benefits of advanced t…
Cytogenetic Analysis of Sporadic First-Trimester Miscarriage Specimens Using Karyotyping and QF-PCR: A Retrospective Romanian Cohort Study Open
It is well known that first-trimester miscarriages are associated with chromosome abnormalities, with numerical chromosome abnormalities being the ones most commonly detected. Conventional karyotyping is still considered the gold standard …
Assessing Putative Markers of Colorectal Cancer Stem Cells: From Colonoscopy to Gene Expression Profiling Open
Cancer stem cells (CSCs) are proposed to be involved in colorectal cancer (CRC) initiation, growth, and metastasis. The aim of our pilot study was to assess possible correlations between the clinicopathological characteristics of CRC patie…
Phenotypic and Genotypic Spectrum of Early-Onset Developmental and Epileptic Encephalopathies—Data from a Romanian Cohort Open
Early-onset developmental epileptic encephalopathy (DEE) refers to an age-specific, diverse group of epilepsy syndromes with electroclinical anomalies that are associated with severe cognitive, behavioral, and developmental impairments. Ge…
Impaired resolution of blood transcriptomes through tuberculosis treatment with diabetes comorbidity Open
Background People with diabetes are more likely to develop tuberculosis (TB) and to have poor TB treatment outcomes than those without. We previously showed that blood transcriptomes in people with TB-diabetes (TB-DM) co-morbidity have exc…
Greig Cephalopolysyndactyly Contiguous Gene Syndrome: Case Report and Literature Review Open
Greig cephalopolysyndactyly syndrome (GCPS) is a rare genetic disorder (about 200 cases reported), characterized by macrocephaly, hypertelorism, and polysyndactyly. Most of the reported GCPS cases are the results of heterozygous loss of fu…
Heart function assessment during aging in apolipoprotein E knock-out mice Open
BACKGROUND: Apolipoprotein (apo) E isoforms have strong correlations with metabolic and cardiovascular diseases. However, it is not clear if apoE has a role in development of non-ischemic cardiomyopathy. Our study aims to analyze the invol…
Apolipoprotein E4 Is Associated with Right Ventricular Dysfunction in Dilated Cardiomyopathy—An Animal and In-Human Comparative Study Open
ApoE abnormality represents a well-known risk factor for cardiovascular diseases. Beyond its role in lipid metabolism, novel studies demonstrate a complex involvement of apoE in membrane homeostasis and signaling as well as in nuclear tran…
The Phenotypic Spectrum of 15q13.3 Region Duplications: Report of 5 Patients Open
Chromosome 15q13.3 microduplications are associated with a wide spectrum of clinical presentations ranging from normal to different neuropsychiatric conditions, such as developmental delay (DD), intellectual disability (ID), epilepsy, hypo…
Prenatal findings and pregnancy outcome in fetuses with right and double aortic arch. A 10-year experience at a tertiary center Open
Objective: Our objective was to evaluate the accuracy of the prenatal diagnosis and the relation between the type of right aortic arch (RAA) with other intra- or extracardiac (EC) and chromosomal anomalies. Methods: A retrospective, observ…
The psychiatric phenotype of 15q11.2-q13.3 duplications Open
Introduction 15q11.2-q13.3 region is prone to genomic rearrangements leading to both deletions and duplications. A wide spectrum of neuropsychiatric conditions, such as developmental delay/intellectual disability (DD/ID), autism, attention…
Prenatal diagnosis of a pure 15q distal trisomy derived from a maternal pericentric inversion: A case report Open
Distal trisomy or duplication of 15q is a very rare chromosomal disorder; most of the previously reported cases were derived from unbalanced translocations involving chromosome 15 and another chromosome, whereas other mechanisms (e.g. dupl…
The shaping of immunological responses through natural selection after the Roma Diaspora Open
The Roma people are the largest transnational ethnic minority in Europe and can be considered the last human migration of South Asian origin into the continent. They left Northwest India approximately 1,000 years ago, reaching the Balkan P…
Biallelic variants in <i>BRCA1</i> gene cause a recognisable phenotype within chromosomal instability syndromes reframed as BRCA1 deficiency Open
Pathogenic variants in BRCA1 gene in heterozygous state are known to be associated with breast-ovarian cancer susceptibility; however, biallelic variants cause a phenotype recognised as Fanconi anaemia complementation group S. Due to its r…
View article: Impact of Intermediate Hyperglycemia and Diabetes on Immune Dysfunction in Tuberculosis
Impact of Intermediate Hyperglycemia and Diabetes on Immune Dysfunction in Tuberculosis Open
Background People with diabetes have an increased risk of developing active tuberculosis (TB) and are more likely to have poor TB-treatment outcomes, which may impact on control of TB as the prevalence of diabetes is increasing worldwide. …
A 14q31.1-q32.11 deletion case: Genotype – Neurological Phenotype Correlations in 14q interstitial deletion syndrome Open
Interstitial deletions involving the long arm of chromosome 14 are rare conditions that associate facial dysmorphism, neurological features such as seizures, motor and cognitive delay with speech problems and autistic traits.We report on a…
TSH and T4 Levels in a Cohort of Depressive Patients. Open
Depression is a significant contributor to the overall burden of disease on a global scale. Thyroid hormones thyroxine (T4) and triiodothyronine (T3) have been shown to play a critical role in the development and normal function of the bra…
Circulating Cortisol in a Cohort of Depressive Patients. Open
It has long been suspected that the hypothalamic pituitary adrenal (HPA) axis plays a role in the pathophysiology of depression. Whether this association exists or not, and if it does, the degree of its significance, remain highly disputed…