Papers by Assimina Galli-tsinopoulou
Journal of The American College of Nutrition, Dec 28, 2015
Malnutrition is a frequent finding in pediatric health care settings in the form of undernutritio... more Malnutrition is a frequent finding in pediatric health care settings in the form of undernutrition or excess body weight. Its increasing prevalence and impact on overall health status, which is reflected in the adverse outcomes, renders imperative the application of commonly accepted and evidence-based practices and tools by health care providers. Nutrition risk screening on admission and nutrition status evaluation are key points during clinical management of hospitalized pediatric patients, in order to prevent health deterioration that can lead to serious complications and growth consequences. In addition, anthropometric data based on commonly accepted universal growth standards can give accurate results for nutrition status. Both nutrition risk screening and nutrition status assessment are techniques that should be routinely implemented, based on commonly accepted growth standards and methodology, and linked to clinical outcomes. The aim of the present review was to address the issue of hospital malnutrition in pediatric settings in terms of prevalence, outline nutrition status evaluation and nutrition screening process using different criteria and available tools, and present its relationship with outcome measures. Key teaching points • Malnutrition-underweight or excess body weight-is a frequent imbalance in pediatric settings that affects physical growth and results in undesirable clinical outcomes. • Anthropometry interpretation through growth charts and nutrition screening are cornerstones for the assessment of malnutrition.To date no commonly accepted anthropometric criteria or nutrition screening tools are used in hospitalized pediatric patients. • Commonly accepted nutrition status and screening processes based on the World Health Organization's growth standards can contribute to the overall hospital nutrition care of pediatric patients.
Metabolic Syndrome and Related Disorders, Dec 1, 2020
The concept of metabolic syndrome (MetS) as a cluster of cardiovascular risk factors (obesity, al... more The concept of metabolic syndrome (MetS) as a cluster of cardiovascular risk factors (obesity, altered glucose metabolism, dyslipidemia, and hypertension) has been around for more than 30 years. It is considered to be the result of complex interactions between centrally located fat, insulin resistance, subclinical inflammation, and other factors in genetically predisposed individuals. MetS diagnosis in adults has been linked to increased risk for cardiovascular disease (CVD) and type 2 diabetes mellitus (T2D). However, MetS in children and adolescents remains a controversial issue despite the extensive research in the field. It is still uncertain which definition should be used for its diagnosis in this age group, what is the clinical significance of such a diagnosis, and how reliably it can predict the future risk of developing CVD and T2D. Even if a child is diagnosed with MetS, management includes addressing each of the syndrome's components individually with weight loss and lifestyle modifications as the basic approach. Co-morbid conditions, such as nonalcoholic fatty liver disease, obstructive sleep apnea, and polycystic ovary syndrome should also be considered. It seems that MetS in children and adolescents should be used clinically as a conceptual framework for the identification of risk factors clustered around obesity and insulin resistance rather than a syndrome that needs to be diagnosed by measuring absolute "all-or-none" criteria.
Molecular Endocrinology, Feb 1, 2010
Diabetes Research and Clinical Practice, Aug 1, 2011
Journal of pediatrics, perinatology and child health, 2023
Objective: Peroxisome biogenesis disorder type 14B (PEX14B, OMIM #614920) is an autosomal recessi... more Objective: Peroxisome biogenesis disorder type 14B (PEX14B, OMIM #614920) is an autosomal recessive disorder characterized clinically by mild mental retardation, congenital cataract, progressive hearing loss, and polyneuropathy. We aimed to report a new mutation in a female adolescent of Greek origin with prominent clinical signs of congenital cataract and clubfoot.
Diabetes Research and Clinical Practice
Balkan Journal of Medical Genetics
Ewing sarcoma (ES), described as a diffuse endothelioma of the bone, is divided into two categori... more Ewing sarcoma (ES), described as a diffuse endothelioma of the bone, is divided into two categories: osseous and extraosseous, which mainly affects adolescents. Extraosseous Ewing Sarcomas (EES) are rare tumors originating from soft tissues. Their clinical presentation depends mainly on the primary location of the tumor and are highly chemosensitive and radiosensitive. The purpose of this study was to describe the clinical characteristics and outcomes of 3 children with EES and uncommon presentation treated in our Unit. The diagnosis of EES was confirmed by biopsy and cytogenetic analysis with fluorescence in situ hybridization (FISH). Surgical excision was planned as primary treatment, followed by adjuvant chemotherapy according to EURO-E.W.I.N.G protocol. To date, all patients are alive, 1, 3 and 4 years after completion of treatment, with no signs of recurrence or metastasis.
The European Journal of Contraception & Reproductive Health Care
Blood, 2021
Background: Complement dysregulation has been documented in the molecular pathophysiology of COVI... more Background: Complement dysregulation has been documented in the molecular pathophysiology of COVID-19 and recently implicated in the relevant pediatric patient inflammatory responses. Aims: Based on our previous data in adults, we hypothesized that signatures of complement genetic variants would also be detectable in pediatric patients exhibiting COVID-19 signs and symptoms. Methods: We prospectively studied consecutive pediatric patients from our COVID-19 Units (November 2020-March 2021). COVID-19 was confirmed by reverse-transcriptase polymerase chain reaction (RT-PCR). Patient data were recorded by treating physicians that followed patients up to discharge. DNA was obtained from peripheral blood samples. Probes were designed using the Design studio (Illumina). Amplicons cover exons of complement-associated genes (C3, C5, CFB, CFD, CFH, CFHR1, CFI, CD46, CD55, MBL2, MASP1, MASP2, COLEC11, FCN1, FCN3 as well as ADAMTS13 and ΤHBD) spanning 15 bases into introns. We used 10ng of ini...
Cytogenetic and Genome Research, 2019
This report describes a newborn girl presenting with some of the common features of DiGeorge synd... more This report describes a newborn girl presenting with some of the common features of DiGeorge syndrome/velocardiofacial syndrome (DGS/VCFS), including hypocalcemia, atrial septal defect, and aortic stenosis. Several genetic tests were carried out to determine the origin of the clinical phenotype. MLPA was initially performed followed by aCGH, cytogenetic analysis, and FISH. Cytogenetic analysis of the proband's parents was also done. MLPA revealed a deletion in 22q11.1q11.2 spanning from the cat eye syndrome region to the most commonly deleted region in DGS/VCFS patients. The size of the deletion as defined by aCGH was 3.2 Mb. The karyotype of the proband was 45,XX,der(1)t(1;22)(p36.3;q11.2)dn,-22, the karyotypes of the parents were normal. FISH analysis showed that the 22q11 deletion occurred in the der(1). No loss or gain of chromosomal material was evident for chromosome 1, as confirmed by MLPA, aCGH, and FISH. Unbalanced translocations resulting in DGS are relatively rare, wi...
Journal of Diabetes, 2019
Osteoporosis International, 2015
Case Reports in Pediatrics, 2015
Pediatric endocrinology reviews : PER, 2014
Supernumerary nipples (or polythelia) usually appear along the embryonic milk lines or in other s... more Supernumerary nipples (or polythelia) usually appear along the embryonic milk lines or in other sites including the back, thigh, vulva, neck etc. The frequency of polythelia ranges from 0.2% to 5.6%. Despite the plethora of published cases concerning its association with other congenital malformations or syndromes with different patterns of inheritance, polythelia still remains a controversial and theoretical issue. Although most reports describe a link between supernumerary nipples and kidney/urinary tract anomalies, a potential relationship with other congenital anomalies or malignancies has also been speculated. Additionally, polythelia has been associated with genodermatoses, thus being related with an increased malignant potential, as well as with an increased risk for solid tumors such as renal adenocarcinoma, testicular cancer, prostate cancer, and urinary bladder carcinoma. The fact that the Scaramanga (ska) mutant mice presented with ectopic breast tissue imply that misregu...
Drugs of today (Barcelona, Spain : 1998), 2012
Since insulin is the unique and life-long therapy in type 1 diabetes and classical insulin prepar... more Since insulin is the unique and life-long therapy in type 1 diabetes and classical insulin preparations have certain limitations due to their pharmacokinetic and pharmacodynamic properties, the new insulin analogues aim to eliminate these limitations. Five insulin analogues are commercially available and approved for individuals with type 1 diabetes: three rapid-acting (insulin lispro, insulin aspart and insulin glulisine) and two long-acting insulin analogues (insulin glargine and insulin detemir). According to several studies conducted in children with type 1 diabetes, insulin analogues, due to their structural alterations, offer flexibility, reduction of nocturnal hypoglycemic episodes and decrease in postprandial hyperglycemic events, resulting in improved quality of life for diabetic children and their families. However, diabetes control measured with glycosylated hemoglobin A1c has been reported to be similar to conventional insulin preparations. Evidence-based medical reports...
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Papers by Assimina Galli-tsinopoulou