Publications by authors named "Anna Papadopoulou"

80 Publications

The Molecular Basis of Calcium and Phosphorus Inherited Metabolic Disorders.

Genes (Basel) 2021 May 13;12(5). Epub 2021 May 13.

Third Department of Pediatrics, University General Hospital "ATTIKON", Medical School, National and Kapodistrian University of Athens, 124 62 Athens, Greece.

Calcium (Ca) and Phosphorus (P) hold a leading part in many skeletal and extra-skeletal biological processes. Their tight normal range in serum mirrors their critical role in human well-being. The signalling "voyage" starts at Calcium Sensing Receptor (CaSR) localized on the surface of the parathyroid glands, which captures the "oscillations" of extracellular ionized Ca and transfers the signal downstream. Parathyroid hormone (PTH), Vitamin D, Fibroblast Growth Factor (FGF23) and other receptors or ion-transporters, work synergistically and establish a highly regulated signalling circuit between the bone, kidneys, and intestine to ensure the maintenance of Ca and P homeostasis. Any deviation from this well-orchestrated scheme may result in mild or severe pathologies expressed by biochemical and/or clinical features. Inherited disorders of Ca and P metabolism are rare. However, delayed diagnosis or misdiagnosis may cost patient's quality of life or even life expectancy. Unravelling the thread of the molecular pathways involving Ca and P signaling, we can better understand the link between genetic alterations and biochemical and/or clinical phenotypes and help in diagnosis and early therapeutic intervention.
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http://dx.doi.org/10.3390/genes12050734DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8153134PMC
May 2021

Early human milk lactoferrin during SARS-CoV-2 infection.

J Matern Fetal Neonatal Med 2021 May 9:1-4. Epub 2021 May 9.

Third Department of Pediatrics, National and Kapodistrian University of Athens, University General Hospital "ATTIKON", Athens, Greece.

Background/aim: Early human milk provides protection against viral infections due to its high nutritional value, abundance of maternal antibodies and the specific role of lactoferrin (Lf). Lf blocks the early interaction between SARS-CoV-2 and host cells by binding to specific cell receptors and has been proposed as a preventative and adjunct treatment for COVID-19. This preliminary report aimed to investigate concentrations of Lf in early milk of SARS-CoV-2 positive mothers versus non-infected controls.

Material And Methods: In a cohort of 13 SARS-CoV-2 positive mothers and 15 controls, breast milk concentrations of Lf were determined by ELISA on day 3 postpartum. Additionally, colostrum samples of infected mothers were analyzed for SARS-CoV-2 RNA detection and anti-SARS-CoV-2 IgA and IgG determination using RT-qPCR and ELISA, respectively.

Results: No differences were found in breast milk Lf concentrations between SARS-CoV-2 positive mothers and controls. In a subgroup analysis, however, symptomatic mothers ( = 7) presented with lower breast milk Lf concentrations, as compared to asymptomatic mothers ( = .041) and healthy controls ( = .029). All milk samples tested negative for SARS-CoV-2 RNA. Early human milk of infected mothers displayed IgA and IgG SARS-CoV-2 specific reactivity.

Conclusions: Our data showed a different early breast milk Lf "profile" between COVID-19 symptomatic and asymptomatic mothers with the latter being at non-COVID levels (control group). SARS-CoV-2 RNA was not detected in any breast milk sample. Early human milk Lf levels are potentially influenced by the severity of maternal COVID-19 infection during pregnancy.
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http://dx.doi.org/10.1080/14767058.2021.1920010DOI Listing
May 2021

Study of Xbal and Pvull polymorphisms of estrogen receptor alpha (ERα) gene in girls with precocious/early puberty.

Endocrine 2021 May 4. Epub 2021 May 4.

Pediatric Endocrinology Unit, Third Department of Pediatrics, "Attikon" University Hospital, National and Kapodistrian University of Athens, Athens, Greece.

Purpose: Studies examining association of estrogen receptor alpha (ERα) polymorphisms with early puberty are scarce and results are controversial; data in Caucasian girls are lacking. Main objective was to determine association of Xbal and Pvull polymorphisms of ERα gene in Greek girls with precocious/early puberty METHODS: We studied 107 girls with idiopathic precocious/early puberty and 81 young women with pubertal maturation within normal age (controls). Pubertal stage, height SDS (HSDS), and BMI z-score were determined in patients. In controls, height was measured and menarcheal age was self-reported. All participants in the study were genotyped for XbaI and PvuII polymorphisms of the ERα gene.

Results: There was no significant difference in XbaI and PvuII polymorphisms between patients and controls. Homozygous, xx and pp, girls had an earlier onset of puberty, although non-significant, than heterozygous or with no polymorphisms p = 0.9; in girls with pubertal onset <7 years, the association tended to become significant, p = 0.09. Girls with xxpp genotype were significantly taller, HSDS 1.63, p = 0.014. In controls, homozygosity for Xbal (xx) and PvuII (pp) was associated with significantly earlier menarche than in women with no polymorphism, p = 0.013 and p = 0.026, respectively, and xxpp genotype was associated with taller adult height, p = 0.017.

Conclusion: XbaI and PvuII polymorphisms are not related to idiopathic precocious/early puberty. Early pubertal girls homozygous for both polymorphisms presented earlier onset of puberty, although statistically non-significant, and taller height than girls heterozygous or without these polymorphisms. Homozygosity for both polymorphisms is associated with earlier menarche and taller adult height.
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http://dx.doi.org/10.1007/s12020-021-02695-0DOI Listing
May 2021

Parietal aplasia and hypophosphatasia in a child harboring a novel mutation in RUNX2 and a likely pathogenic variant in TNSALP.

Bone 2021 May 27;146:115904. Epub 2021 Feb 27.

Third Department of Pediatrics, National & Kapodistrian University of Athens, University General Hospital "Attikon", Medical School, Athens, Greece.

Cleidocranial dysplasia is a dominantly inherited skeletal dysplasia resulting from inherited or spontaneous mutations of Runt-related transcription factor 2 gene (RUNX2). It represents a clinical continuum typically characterized by wide calvarial sutures, clavicular hypoplasia and dental abnormalities. CDD has been rarely associated with skeletal and biochemical features that mimic hypophosphatasia. We report clinical, biochemical and molecular profile of a 3-year-old female with CCD, presented in utero with large cranial defects. She displayed severe parietal dysplasia, wide cranial sutures, clavicular abnormalities and biochemical features of hypophospatasia (HHP). She was preliminary diagnosed with benign perinatal HHP, harboring a likely pathogenic heterozygous TNSALP variant (p.Ser181Leu) inherited by the mother, who also displayed low levels of ALP. Asfotase alfa was introduced for a six-month-period with rather positive impact on cranial ossification. Nevertheless, focal skeletal disease (cranium and clavicles) and absence of clinical symptoms in the mother, carrier of the same genetic variant, posed diagnosis into question and further genetic analysis detected the novel spontaneous frameshift mutation c.1191delC (p.Phe398Leufs*86) in RUNX2 gene, establishing the CCD diagnosis. Although genotype-phenotype correlations are difficult, p.Phe398Leufs*86 appears to be associated with a severe cranial phenotype and absence of parietal bones, similarly to other adjacent frameshift/splicing mutations. The TNSALP variant (p.Ser181Leu) may contributed to patient's final phenotype, as well as to maternal low ALP levels. However, since low ALP levels have been also reported in few CCD patients with no alterations in TNSALP gene, studies to elucidate RUNX2 and TNSALP interactions could shed more light on differential diagnosis between CCD and HHP, CCD appropriate therapy and genetic counselling. ACCESSION NUMBER: (SUB8185506).
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http://dx.doi.org/10.1016/j.bone.2021.115904DOI Listing
May 2021

Connecting high-throughput biodiversity inventories: Opportunities for a site-based genomic framework for global integration and synthesis.

Mol Ecol 2021 03 2;30(5):1120-1135. Epub 2021 Feb 2.

Island Ecology and Evolution Research Group, Instituto de Productos Naturales y Agrobiología (IPNA-CSIC), San Cristóbal de la Laguna, Spain.

High-throughput sequencing (HTS) is increasingly being used for the characterization and monitoring of biodiversity. If applied in a structured way, across broad geographical scales, it offers the potential for a much deeper understanding of global biodiversity through the integration of massive quantities of molecular inventory data generated independently at local, regional and global scales. The universality, reliability and efficiency of HTS data can potentially facilitate the seamless linking of data among species assemblages from different sites, at different hierarchical levels of diversity, for any taxonomic group and regardless of prior taxonomic knowledge. However, collective international efforts are required to optimally exploit the potential of site-based HTS data for global integration and synthesis, efforts that at present are limited to the microbial domain. To contribute to the development of an analogous strategy for the nonmicrobial terrestrial domain, an international symposium entitled "Next Generation Biodiversity Monitoring" was held in November 2019 in Nicosia (Cyprus). The symposium brought together evolutionary geneticists, ecologists and biodiversity scientists involved in diverse regional and global initiatives using HTS as a core tool for biodiversity assessment. In this review, we summarize the consensus that emerged from the 3-day symposium. We converged on the opinion that an effective terrestrial Genomic Observatories network for global biodiversity integration and synthesis should be spatially led and strategically united under the umbrella of the metabarcoding approach. Subsequently, we outline an HTS-based strategy to collectively build an integrative framework for site-based biodiversity data generation.
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http://dx.doi.org/10.1111/mec.15797DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7986105PMC
March 2021

Genomic footprints of an old affair: Single nucleotide polymorphism data reveal historical hybridization and the subsequent evolution of reproductive barriers in two recently diverged grasshoppers with partly overlapping distributions.

Mol Ecol 2020 06 3;29(12):2254-2268. Epub 2020 Jun 3.

Department of Integrative Ecology, Estación Biológica de Doñana (EBD-CSIC), Seville, Spain.

Secondary contact in close relatives can result in hybridization and the admixture of previously isolated gene pools. However, after an initial period of hybridization, reproductive isolation can evolve through different processes and lead to the interruption of gene flow and the completion of the speciation process. Omocestus minutissimus and O. uhagonii are two closely related grasshoppers with partially overlapping distributions in the Central System mountains of the Iberian Peninsula. To analyse spatial patterns of historical and/or contemporary hybridization between these two taxa and understand how species boundaries are maintained in the region of secondary contact, we sampled sympatric and allopatric populations of the two species and obtained genome-wide single nucleotide polymorphism data using a restriction site-associated DNA sequencing approach. We used Bayesian clustering analyses to test the hypothesis of contemporary hybridization in sympatric populations and employed a suite of phylogenomic approaches and a coalescent-based simulation framework to evaluate alternative hypothetical scenarios of interspecific gene flow. Our analyses rejected the hypothesis of contemporary hybridization but revealed past introgression in the area where the distributions of the two species overlap. Overall, these results point to a scenario of historical gene flow after secondary contact followed by the evolution of reproductive isolation that currently prevents hybridization among sympatric populations.
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http://dx.doi.org/10.1111/mec.15475DOI Listing
June 2020

β-Amyloid and mitochondrial-derived peptide-c are additive predictors of adverse outcome to high-on-treatment platelet reactivity in type 2 diabetics with revascularized coronary artery disease.

J Thromb Thrombolysis 2020 Apr;49(3):365-376

Laboratory of Haematology & Blood Bank Unit, 'Attikon University Hospital', School of Medicine, National and Kapodistrian University of Athens, Athens, Greece.

Background And Aims: Increased β-amyloid and decreased mitochondrial-derived peptide (MOTS-c), are reported in diabetes. We investigated their additive value to high on-clopidogrel platelet reactivity (HPR) for adverse outcome in type 2 diabetics after recent revascularization.

Patients And Methods: In 121 type II diabetics, treated with clopidogrel and aspirin, (93 males, mean age 67.2 years) we measured: (a) maximum platelet aggregation to adenosine diphosphate (ADP) by light transmission aggregometry (LTAmax), (b) malondialdehyde (MDA), as oxidative stress marker, (c) MOTS-c, (d) β-amyloid blood levels. Cardiac death and acute coronary syndromes (MACE) were recorded during 2 years of follow-up.

Results: Out of 121 patients, 32 showed HPR (LTAmax > 48%,). At baseline, HPR was associated with β-amyloid > 51 pg/ml (p = 0.006) after adjusting clinical variables, HbA1c, MOTS-c, MDA and medication. During follow-up, 22 patients suffered a MACE. HPR, β-amyloid > 51 pg/ml and MOTS-c < 167 ng/ml were predictors of MACE (relative risk 3.1, 3.5 and 3.8 respectively, p < 0.05) after adjusting for confounders and medication. There was significant interaction between HPR and β-amyloid or MOTS-c for the prediction of MACE (p < 0.05). Patients with HPR and β-amyloid > 51 mg/dl or HPR and MOTS-c concentration < 167 ng/ml had a fourfold higher risk for MACE than patients without these predictors (relative risk 4.694 and 4.447 respectively p < 0.01). The above results were confirmed in an external validation cohort of 90 patients with diabetes and CAD.

Conclusions: Increased β-amyloid or low MOTS-c are additive predictors to high on-clopidogrel platelet reactivity for adverse outcome in diabetics with CAD during 2-years follow-up. Clinical Trial Registration-URL: https://www.clinicaltrials.gov. Unique identifier: NCT04027712.
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http://dx.doi.org/10.1007/s11239-020-02060-4DOI Listing
April 2020

Hypoprolactinemia as a Clue to Diagnosis of Mild Central Hypothyroidism due to Deficiency

J Clin Res Pediatr Endocrinol 2020 06 26;12(2):218-222. Epub 2019 Aug 26.

National and Kapodistrian University of Athens, “Attikon” University Hospital, Third Department of Pediatrics, Athens, Greece

Loss-of-function mutations of are an X-linked cause of central hypothyroidism (CeH) and hypoprolactinemia. A boy who is now 15.2 years old presented at the age of 7.69 years for evaluation of obesity. Previous thyroid function evaluation suggested CeH [FT4 0.6 ng/mL, thyroid-stimulating hormone (TSH) 2.2 mIU/L] but his physician took no action. At presentation he was clinically and biochemically euthyroid, prepubertal and obese. Serum prolactin (PRL) was undetectable. Biochemistry was normal except for mild hypercholesterolemia, total cholesterol 198 mg/dL. Subsequently FT4 and TSH levels fluctuated between 0.72-0.95 ng/dL (normal 0.8-2.0) and 1.94-5.77 mIU/L (normal 0.3-5.0), respectively. Sequencing of gene revealed a novel genetic change c.3805C>T in exon 19; substitution of amino acid Arginine at position 1269 with a premature «stop» codon resulting in an altered protein product. The patient additionally presented delayed adrenarche, low height velocity that resolved spontaneously and normal pubertal onset associated with increased FSH levels. At 14 years-of-age, while the patient was at Tanner stage 4, PRL levels became detectable, rising gradually to 2.3 ng/mL at last examination. Thyroxine replacement therapy resulted in decrease in total cholesterol 103 mg/dL. A high index of suspicion for the disorder is needed since several measurements of thyroid function may be required for CeH to be disclosed. The patient’s normal FT4 levels and normal intelligence would have resulted in a missed diagnosis if the serum PRL levels had not been measured. This case highlights the importance of measuring PRL in a boy with low normal FT4 and normal TSH levels.
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http://dx.doi.org/10.4274/jcrpe.galenos.2019.2019.0085DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7291406PMC
June 2020

Genomic data reveal deep genetic structure but no support for current taxonomic designation in a grasshopper species complex.

Mol Ecol 2019 09 29;28(17):3869-3886. Epub 2019 Aug 29.

Department of Integrative Ecology, Estación Biológica de Doñana (EBD-CSIC), Seville, Spain.

Taxonomy has traditionally relied on morphological and ecological traits to interpret and classify biological diversity. Over the last decade, technological advances and conceptual developments in the field of molecular ecology and systematics have eased the generation of genomic data and changed the paradigm of biodiversity analysis. Here we illustrate how traditional taxonomy has led to species designations that are supported neither by high throughput sequencing data nor by the quantitative integration of genomic information with other sources of evidence. Specifically, we focus on Omocestus antigai and Omocestus navasi, two montane grasshoppers from the Pyrenean region that were originally described based on quantitative phenotypic differences and distinct habitat associations (alpine vs. Mediterranean-montane habitats). To validate current taxonomic designations, test species boundaries, and understand the factors that have contributed to genetic divergence, we obtained phenotypic (geometric morphometrics) and genome-wide SNP data (ddRADSeq) from populations covering the entire known distribution of the two taxa. Coalescent-based phylogenetic reconstructions, integrative Bayesian model-based species delimitation, and landscape genetic analyses revealed that populations assigned to the two taxa show a spatial distribution of genetic variation that do not match with current taxonomic designations and is incompatible with ecological/environmental speciation. Our results support little phenotypic variation among populations and a marked genetic structure that is mostly explained by geographic distances and limited population connectivity across the abrupt landscapes characterizing the study region. Overall, this study highlights the importance of integrative approaches to identify taxonomic units and elucidate the evolutionary history of species.
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http://dx.doi.org/10.1111/mec.15189DOI Listing
September 2019

Inhibition Activity of Compounds and Bacteriophages against Flavobacterium psychrophilum Biofilms In Vitro.

J Aquat Anim Health 2019 09 19;31(3):225-238. Epub 2019 Jun 19.

Laboratory of Aquatic Pathobiology, Environmental and Marine Biology, Åbo Akademi University, Tykistokatu 6, FI-20520, Turku, Finland.

Flavobacterium psychrophilum produces biofilms under laboratory conditions, and it has been inconclusively suggested that F. psychrophilum biofilms can be a potential reservoir for transmission of the pathogen to a fish population under fish farming conditions. Therefore, there is a need for anti-biofilm compounds. The main aim of this study was to determine the anti-biofilm properties of certain compounds and bacteriophages on F. psychrophilum biofilms under static conditions using a standard 96-well microtiter plate biofilm assay in vitro. Eight compounds (A-type proanthocyanidins, D-leucine, EDTA, emodin, fucoidan, L-alliin, parthenolide, and 2-aminoimidazole) at three sub-minimum inhibitory concentrations (sub-MICs), four bacteriophages (Fpv-3, Fpv-9, Fpv-10, and Fpv-21), and a phage combination (Fpv-9 + Fpv-10) were tested for inhibition of biofilm formation and reduction of the biomass of mature biofilms formed by two smooth isolates (P7-9/10 and P1-10B/10) and two rough isolates (P7-9/2R/10 and P1-10B/2R/10) of F. psychrophilum. The crystal violet staining method was used to stain the biofilms. Most of the compounds at sub-MICs inhibited the biofilm formation of mainly smooth isolates, attaining up to 80% inhibition. Additionally, the same reduction trend was also observed for 2-aminoimidazole, emodin, parthenolide, and D-leucine on the biomass of mature biofilms in a concentration-dependent manner. The anti-biofilm properties of the compounds are believed to lie in their ability to disturb the cellular interactions during biofilm formation and probably to cause cell dispersal in already formed biofilms. Lytic bacteriophages efficiently inhibited biofilm formation of F. psychrophilum, while they partially reduced the biomass of mature biofilms. However, the phage combination (Fpv-9 + Fpv-10) showed a successful reduction in the biomass of F. psychrophilum mature biofilms. We conclude that inhibiting compounds together with bacteriophages may supplement the use of disinfectants against bacterial biofilms (e.g., F. psychrophilum biofilms), leading to a reduced occurrence of bacterial coldwater disease outbreaks at fish farms.
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http://dx.doi.org/10.1002/aah.10069DOI Listing
September 2019

Short-Term and Long-Term Effects of Levetiracetam Monotherapy on Homocysteine Metabolism in Children with Epilepsy: A Prospective Study.

J Clin Neurol 2019 Apr;15(2):149-151

Third Department of Pediatrics, National and Kapodistrian University of Athens, "Attikon" Hospital, Athens, Greece.

Background And Purpose: Long-term treatment with some older antiepileptic drugs may lead to hyperhomocysteinemia. Levetiracetam (LEV) is a newer broad-spectrum antiepileptic agent whose effects on homocysteine concentrations remain unclear. The purpose of this study was to prospectively determine the short-term and long-term effects of LEV monotherapy on homocysteine metabolism in children with epilepsy.

Methods: The study population consisted of 32 children [18 females, 14 males; age 5.94±4.10 years (mean±SD), age range 1-15 years] who received LEV monotherapy for new-onset epilepsy. Serum folate, serum vitamin B12, and plasma total homocysteine (p-tHcy) were measured before and at 2 months (=32), 6 months (=25), and 12 months (=18) of LEV monotherapy.

Results: p-tHcy was significantly decreased at 2 months of treatment (=0.031). Furthermore, analysis of covariance showed statistically significant decreases in p-tHcy at 2 months (=0.013) and 6 months (=0.015) of LEV treatment after controlling for age, sex, body mass index, and LEV dose. There were no significant alterations in the other parameters during the study. The drug doses were 18.1±7.1, 20.1±9.2, and 21.2±11.8 mg/kg at 2, 6, and 12 months of LEV treatment, respectively.

Conclusions: In contrast with older antiepileptic drugs, long-term LEV monotherapy in children with epilepsy does not cause adverse alterations on homocysteine metabolism. Larger prospective studies are needed to definitively clarify whether LEV may be considered a safer alternative drug for preventing antiepileptic-drug-induced cardiovascular complications in adult life.
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http://dx.doi.org/10.3988/jcn.2019.15.2.149DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6444148PMC
April 2019

Osteoporosis-pseudoglioma syndrome: clinical, genetic, and treatment-response study of 10 new cases in Greece.

Eur J Pediatr 2019 Mar 29;178(3):323-329. Epub 2018 Nov 29.

Third Department of Pediatrics, National and Kapodistrian University of Athens, "Attikon" University General Hospital, Athens, Greece.

Osteoporosis-pseudoglioma syndrome (OPPG) is a rare autosomal-recessive disorder, characterized by severe osteoporosis and early-onset blindness. Loss of function mutations in the gene encoding low-density lipoprotein receptor-related protein 5 (LRP5) have been established as the genetic defect of the disease. We report the clinical and genetic evaluation of ten OPPG cases in eight related nuclear families and their close relatives. Bone mineral density (BMD) in OPPG patients was assessed by dual-energy X-ray absorptiometry (DXA). Genotyping of LRP5 gene and targeted detection of index mutation were performed by DNA direct sequencing. Four patients were introduced to bisphosphonates. Mutational screening of LRP5 gene revealed the c.2409_2503+79del deletion in homozygous state, expected to result in a truncated protein. Among 44 members of the pedigree, 10 (22%) were identified homozygous and 34 (59%) heterozygous for this mutation. All patients had congenital blindness and 7 of them had also impaired bone mineral density. Four of them received bisphosphonates and responded with decreased bone pain and improvement in BMD; however, 3 patients presented with one fracture during treatment.Conclusion: The current study presents the molecular and clinical profiles of 10 new OPPG cases, being part of an extended pedigree. Patients who received bisphosphonate treatment responded well with increase in their BMD, though fractures occurred during therapy. What is known: • OPPG syndrome is a rare genetic disorder characterized by congenital blindness and juvenile osteoporosis. • Loss of function mutations in the gene encoding low-density lipoprotein receptor-related protein 5 (LRP5) is the genetic defect of the disease. What is new: • Genetic and clinical phenotype of 10 new OPPG patients. • The ten new OPPG patients presented with phenotypical variability in osseous manifestations.
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http://dx.doi.org/10.1007/s00431-018-3299-3DOI Listing
March 2019

Hypovitaminosis D in Healthy Pregnant Women and their Newborns in Greece.

Endocr Metab Immune Disord Drug Targets 2019 ;19(2):159-165

3rd Department of Paediatrics, National and Kapodistrian University of Athens, "Attikon" University General Hospital, Athens, Greece.

Background/objectives: The aim of this work was to evaluate the current vitamin D status in healthy pregnant women and their newborns living in Greece and assess possible associations between 25(OH)D and anthropometric features of their fetuses and newborns.

Materials & Methods: 81 healthy women were monitored during pregnancy. Biochemical markers related to bone metabolism, 25(OH)D and PTH levels were measured in serum samples of mothernewborn pairs at 1st trimester of pregnancy and at delivery in mothers, in cord blood and at the 3rd day of life of newborns.

Results: Maternal 25(OH)D levels at the 1st trimester of pregnancy (22.6±9.2ng/ml) were significantly higher than those at delivery (19.2±9.2ng/ml) (p<0.001). Furthermore, umbilical 25(OH)D levels (21.3±9.3ng/ml) were higher than maternal at delivery (p=0.005) and neonatal levels (19.4±10.4 ng/ml) (p=0.021). Only 57.3% of the mothers at the first trimester and 46.7% at delivery as well as 55.8% of the fetuses and 38.5% of the neonates had adequate vitamin D levels (25(OH)D≥30ng/ml). A significant positive correlation was found between fetal femur length at the 22nd week of gestation and maternal 25(ΟΗ)D at the 1st trimester of pregnancy (r=0.36, p=0.048) while body length was significantly higher in newborns whose mothers had sufficient 25(OH)D levels (51.5±2.1cm) compared with those whose mothers had insufficient or deficient 25(OH)D levels at delivery (50.6±2.0cm) (p=0.047).

Conclusion: The study confirms inadequate levels of vitamin D in pregnant women in Greece associated with inadequate vitamin D levels of their fetuses and newborns.
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http://dx.doi.org/10.2174/1871530318666180723103117DOI Listing
June 2019

Adherence to the Mediterranean diet and inflammatory markers in children with asthma.

Allergol Immunopathol (Madr) 2019 May - Jun;47(3):209-213. Epub 2018 Jul 3.

Children's Respiratory and Allergy Clinic, 3(rd) Dept of Paediatrics, National and Kapodistrian University of Athens, "Attikon" General University Hospital, Athens, Greece.

Introduction: There is accumulated evidence supporting a beneficial role of Mediterranean diet (MD) in the control of asthma symptoms. The aim of this study was to investigate the relationships between adherence to MD and serum levels of certain cytokines namely, interleukin (IL)-4, and IL-17 known to have a pathogenetic role in the airway changes associated with asthma.

Methods: We measured serum IL-4, IL-33, and IL-17, in 44 asthmatic and 26 healthy children, 5-15 years old. Their adherence to MD was estimated with the Mediterranean Diet Quality Index for children and adolescents (KIDMED) score.

Results: KIDMED score did not differ between the two groups (P=0.59) and was not correlated with any of the three measured cytokines. However, when the analysis was restricted only to asthmatic children, the KIDMED score was correlated with IL-4, IL-33, and IL-17 (Beta: -0.56, P=0.007; Beta: 0.57, P=0.010; Beta: -0.62, P=0.017, respectively).

Conclusion: Our results indicate that MD can modulate the production of some of the main inflammatory mediators of asthma, in asthmatic children.
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http://dx.doi.org/10.1016/j.aller.2018.04.007DOI Listing
August 2019

Screening for TSC1 and TSC2 mutations using NGS in Greek children with tuberous sclerosis syndrome.

Eur J Paediatr Neurol 2018 May 9;22(3):419-426. Epub 2018 Feb 9.

1st Department of Pediatrics, « Hippokratio » General Hospital, Aristotle University, Thessaloniki, Greece. Electronic address:

Tuberous Sclerosis Complex (TSC) is a rare neurocutaneous syndrome inherited by an autosomal dominant manner. The disorder is commonly manifested by the presence of multiple benign tumors located in numerous tissues, including the brain, heart, skin and kidneys. Seizures, autism, developmental and behavioral delay, as well as non-neurological phenotypic findings, are suggestive of TSC. The identification of one pathogenic mutation in either the TSC1 or TSC2 genes is considered to be an independent diagnostic criterion. In our study, seventeen Greek patients, 2yo on average, were analyzed for the presence of pathogenic germline mutations in the aforementioned loci by Next-Generation Sequencing. A TSC1/2 gene panel was designed for the molecular diagnosis of the disease. Patients underwent initial diagnosis based on their clinical symptoms, most frequently involving the presence of skin lesions and/or epilepsy. Only one case was familial. Sixteen different genetic alterations were identified in TSC1 and TSC2 genes in fifteen patients, giving a 88% detection rate by employing NGS technology. Overall, most pathogenic mutations (11/15) identified were located in the TSC2 gene with exon 41 being the most frequent. With respect to genotype-phenotype association, no patient TSC1 (+) developed SEGA or renal cysts. No significant differences were observed between different types of TSC2 mutations and any clinical feature. Sequencing also revealed 18 different SNPs across the TSC1 and 20 across the TSC2 genes. This is the first registry of the genetic profile of TSC patients in Greece using a custom-made gene panel as molecular diagnostic tool.
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http://dx.doi.org/10.1016/j.ejpn.2018.01.026DOI Listing
May 2018

Linking micro- and macroevolutionary perspectives to evaluate the role of Quaternary sea-level oscillations in island diversification.

Evolution 2017 Dec 16;71(12):2901-2917. Epub 2017 Nov 16.

Department of Ecology and Evolutionary Biology, Museum of Zoology, University of Michigan, 1109 Geddes Avenue, Ann Arbor, MI 48109-1079.

With shifts in island area, isolation, and cycles of island fusion-fission, the role of Quaternary sea-level oscillations as drivers of diversification is complex and not well understood. Here, we conduct parallel comparisons of population and species divergence between two island areas of equivalent size that have been affected differently by sea-level oscillations, with the aim to understand the micro- and macroevolutionary dynamics associated with sea-level change. Using genome-wide datasets for a clade of seven Amphiacusta ground cricket species endemic to the Puerto Rico Bank (PRB), we found consistently deeper interspecific divergences and higher population differentiation across the unfragmented Western PRB, in comparison to the currently fragmented Eastern PRB that has experienced extreme changes in island area and connectivity during the Quaternary. We evaluate alternative hypotheses related to the microevolutionary processes (population splitting, extinction, and merging) that regulate the frequency of completed speciation across the PRB. Our results suggest that under certain combinations of archipelago characteristics and taxon traits, the repeated changes in island area and connectivity may create an opposite effect to the hypothesized "species pump" action of oscillating sea levels. Our study highlights how a microevolutionary perspective can complement current macroecological work on the Quaternary dynamics of island biodiversity.
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http://dx.doi.org/10.1111/evo.13384DOI Listing
December 2017

Prenatal Maternal Stress and the Risk of Asthma in Children.

Front Pediatr 2017 20;5:202. Epub 2017 Sep 20.

3rd Department of Pediatrics, "Attikon" University General Hospital, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece.

Emerging evidence indicate that maternal prenatal stress (MPS) can result in a range of long-term adverse effects in the offspring. The underlying mechanism of MPS is not fully understood. However, its complexity is emphasized by the number of purportedly involved pathways namely, placental deregulated metabolism of maternal steroids, impaired maturation of fetal HPA axis, imbalanced efflux of commensal bacteria across the placenta, and skewed immune development toward Th2. Fetal programming probably exerts a pivotal role in the end result of the above pathways through the modulation of gene expression. In this review, we highlight the current knowledge from epidemiological and experimental studies regarding the effects of MPS on asthma development in the offspring.
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http://dx.doi.org/10.3389/fped.2017.00202DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5611367PMC
September 2017

Wiskott-Aldrich Syndrome Misdiagnosed as Immune Thrombocytopenic Purpura: A Case Report.

J Pediatr Hematol Oncol 2018 04;40(3):240-242

Third Department of Pediatrics, National and Kapodistrian University of Athens, General University Hospital "Attikon".

Wiskott-Aldrich syndrome (WAS) is a rare X-linked immunodeficiency characterized by various clinical phenotypes. We report the case of a 3-year-old immigrant boy presenting with persistent infant-onset thrombocytopenia treated for refractory immune thrombocytopenic purpura. Sequence analysis confirmed the diagnosis of WAS. The patient responded neither to IV infusions of immunoglobulin (Ig) nor a thrombopoietin receptor agonist and is currently planned for stem cell transplantation. Raised awareness is thus vital of this potentially misdiagnosed and lethal disorder. The diagnosis of WAS should be considered in all males with infant-onset immune thrombocytopenic purpura-like features, especially, if mean platelet volume is decreased (<7 fL) and good increment to platelet transfusions are evident.
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http://dx.doi.org/10.1097/MPH.0000000000000949DOI Listing
April 2018

Clinical characterization of a novel calcium sensing receptor genetic alteration in a Greek patient with autosomal dominant hypocalcemia type 1.

Hormones (Athens) 2017 Apr;16(2):200-204

Third Department of Pediatrics, National and Kapodistrian University of Athens, Athens University Medical School, University General Hospital "Attikon", Athens, Athens, Greece.

Objective: Autosomal dominant hypocalcemia (ADH) is a rare familial or sporadic syndrome associated with activating mutations in the calcium sensing receptor (CaSR) gene. The aim of this study was to assess the functional significance of a novel CaSR mutation and, moreover, to present the clinical characteristics and the bone mineral density (BMD) progression from early childhood to late puberty in a patient with ADH.

Design: Genetic analysis of the CaSR gene was performed in a patient who presented in the neonatal period with hypocalcemic seizures and biochemical features of ADH. The functional impact of the novel mutation identified was assessed in cultured HEK 293T cells, transfected with either the wild type (WT) or mutant CaSR, by evaluating intracellular calcium ([Ca2+]i) influx after stimulation with extracellular calcium (Ca2+). Several BMD measurements were performed during the patient's follow-up until late puberty.

Results: A novel CaSR mutation (p.L123S) was identified, which, as demonstrated by functional analysis, renders CaSR more sensitive to extracellular changes of Ca2+ compared with the WT, although the difference is not statistically significant. BMD measurements, from early childhood to late puberty, revealed high normal to elevated BMD.

Conclusion: We present the first Greek patient, to our knowledge, with sporadic ADH due to a novel gain-of-function mutation of the CaSR gene.
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http://dx.doi.org/10.14310/horm.2002.1734DOI Listing
April 2017

Can Getting Enough Vitamin D during Pregnancy Reduce the Risk of Getting Asthma in Childhood?

Front Pediatr 2017 26;5:87. Epub 2017 Apr 26.

Third Department of Pediatrics, Athens University Medical School, University General Hospital "Attikon", Athens, Greece.

The worldwide increase in asthma prevalence during the last decades and the re-emergence of vitamin D deficiency in many populations hinted toward an underlying association between these two conditions. Since asthma is presented with high incidence in childhood and neonatal vitamin D stores depend on maternal vitamin levels, a possible programming effect of maternal vitamin D status during gestation was suggested. Observational and longitudinal studies on this subject led to inconclusive results with glimmer of positivity. In the randomized controlled clinical trials (RCTs) that followed, increased doses of vitamin D were tested in pregnant women being at high risk of having an asthmatic child. Although, the results of RCTs showed a potential association with asthma-related phenotypes rather than asthma , the low toxicity of vitamin D supplements make it tempting to speculate that pregnant women at a high risk of obtaining a child with asthma may be benefited, especially if they are vitamin D deficient.
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http://dx.doi.org/10.3389/fped.2017.00087DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5405075PMC
April 2017

Novel NPC1 mutations with different segregation in two related Greek patients with Niemann-Pick type C disease: molecular study in the extended pedigree and clinical correlations.

BMC Med Genet 2017 05 4;18(1):51. Epub 2017 May 4.

Third Department of Pediatrics, Athens University Medical School, University General Hospital "Attikon", 1 Rimini Str, 12464 -Haidari, Athens, Greece.

Background: Niemann-Pick type C disease (NPC) is an autosomal recessive, neurovisceral, lysosomal storage disorder with protean and progressive clinical manifestations, resulting from mutations in either of the two genes, NPC1 (~95% of families) and NPC2. Contrary to other populations, published evidence regarding NPC disease in Greece is sparse.

Methods: The study population consisted of two Greek NPC patients and their extended pedigree. Patients' clinical, biochemical, molecular profiles and the possible correlations are presented. Genotyping was performed by direct sequencing. Mutations' origin was investigated through selected exonic NPC1 polymorphisms encountered more frequently in a group of 37 Greek patients with clinical suspicion of NPC disease and in a group of 90 healthy Greek individuals, by the use of Haplore software.

Results: Two novel NPC1 mutations, [IVS23 + 3insT (c.3591 + 3insT) and p. K1057R (c.3170A > C)] were identified and each mutation was associated with a specific haplotype. One of the patients was entered to early treatment with miglustat and has presented no overt neurological impairment after 11.5 years.

Conclusions: The splicing mutation IVS23 + 3insT was associated in homozygocity with a severe biochemical and clinical phenotype. A possible founder effect for this mutation was demonstrated in the Greek Island, as well as a different origin for each novel mutation. Longitudinal follow-up may contribute to clarify the possible effect of early miglustat therapy on the patient compound heterozygous for the two novel mutations.
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http://dx.doi.org/10.1186/s12881-017-0409-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5415950PMC
May 2017

Genome-wide Regulatory Roles of the C2H2-type Zinc Finger Protein ZNF764 on the Glucocorticoid Receptor.

Sci Rep 2017 01 31;7:41598. Epub 2017 Jan 31.

Division of Translational Medicine, Sidra Medical and Research Center, Doha 26999, Qatar.

The C2H2-type zinc finger protein ZNF764 acts as an enhancer for several steroid hormone receptors, and haploinsufficiency of this gene may be responsible for tissue resistance to multiple steroid hormones including glucocorticoids observed in a patient with 16p11.2 microdeletion. We examined genome-wide regulatory actions of ZNF764 on the glucocorticoid receptor (GR) in HeLa cells as a model system. ZNF764- and GR-binding sites demonstrated similar distribution in various genomic features. They positioned predominantly around 50-500 kbs from the transcription start sites of their nearby genes, and were closely localized with each other, overlapping in ~37% of them. ZNF764 demonstrated differential on/off effects on GR-binding and subsequent mRNA expression: some genes were highly dependent on the presence/absence of ZNF764, but others were not. Pathway analysis revealed that these 3 gene groups were involved in distinct cellular activities. ZNF764 physically interacted with GR at ligand-binding domain through its KRAB domain, and both its physical interaction to GR and zinc finger domain appear to be required for ZNF764 to regulate GR transcriptional activity. Thus, ZNF764 is a cofactor directing GR transcriptional activity toward specific biologic pathways by changing GR binding and transcriptional activity on the glucocorticoid-responsive genes.
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http://dx.doi.org/10.1038/srep41598DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5282477PMC
January 2017

Toward a paradigm shift in comparative phylogeography driven by trait-based hypotheses.

Proc Natl Acad Sci U S A 2016 07;113(29):8018-24

Department of Ecology and Evolutionary Biology, Museum of Zoology, University of Michigan, Ann Arbor, MI 48109;

For three decades, comparative phylogeography has conceptually and methodologically relied on the concordance criterion for providing insights into the historical/biogeographic processes driving population genetic structure and divergence. Here we discuss how this emphasis, and the corresponding lack of methods for extracting information about biotic/intrinsic contributions to patterns of genetic variation, may bias our general understanding of the factors driving genetic structure. Specifically, this emphasis has promoted a tendency to attribute discordant phylogeographic patterns to the idiosyncracies of history, as well as an adherence to generic null expectations of concordance with reduced predictive power. We advocate that it is time for a paradigm shift in comparative phylogeography, especially given the limited utility of the concordance criterion as genomic data provide ever-increasing levels of resolution. Instead of adhering to the concordance-discordance dichotomy, comparative phylogeography needs to emphasize the contribution of taxon-specific traits that will determine whether concordance is a meaningful criterion for evaluating hypotheses or may predict discordant phylogeographic structure. Through reference to some case studies we illustrate how refined hypotheses based on taxon-specific traits can provide improved predictive frameworks to forecast species responses to climatic change or biogeographic barriers while gaining unique insights about the taxa themselves and their interactions with their environment. We outline a potential avenue toward a synthetic comparative phylogeographic paradigm that includes addressing some important conceptual and methodological challenges related to study design and application of model-based approaches for evaluating support of trait-based hypotheses under the proposed paradigm.
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http://dx.doi.org/10.1073/pnas.1601069113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4961141PMC
July 2016

High-throughput biodiversity analysis: Rapid assessment of species richness and ecological interactions of Chrysomelidae (Coleoptera) in the tropics.

Zookeys 2016 9(597):3-26. Epub 2016 Jun 9.

Animal Biodiversity and Evolution, Institute of Evolutionary Biology (CSIC-Universitat Pompeu Fabra), 08003 Barcelona, Spain; Conservation and Evolutionary Genetics, Estación Biológica de Doñana (CSIC), 41092 Sevilla, Spain.

Biodiversity assessment has been the focus of intense debate and conceptual and methodological advances in recent years. The cultural, academic and aesthetic impulses to recognise and catalogue the diversity in our surroundings, in this case of living objects, is furthermore propelled by the urgency of understanding that we may be responsible for a dramatic reduction of biodiversity, comparable in magnitude to geological mass extinctions. One of the most important advances in this attempt to characterise biodiversity has been incorporating DNA-based characters and molecular taxonomy tools to achieve faster and more efficient species delimitation and identification, even in hyperdiverse tropical biomes. In this assay we advocate for a broad understanding of Biodiversity as the inventory of species in a given environment, but also the diversity of their interactions, with both aspects being attainable using molecular markers and phylogenetic approaches. We exemplify the suitability and utility of this framework for large-scale biodiversity assessment with the results of our ongoing projects trying to characterise the communities of leaf beetles and their host plants in several tropical setups. Moreover, we propose that approaches similar to ours, establishing the inventories of two ecologically inter-related and species-rich groups of organisms, such as insect herbivores and their angiosperm host-plants, can serve as the foundational stone to anchor a comprehensive assessment of diversity, also in tropical environments, by subsequent addition of trophic levels.
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http://dx.doi.org/10.3897/zookeys.597.7065DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4926618PMC
July 2016

MTP Gene Variants and Response to Lomitapide in Patients with Homozygous Familial Hypercholesterolemia.

J Atheroscler Thromb 2016 Jul 10;23(7):878-83. Epub 2016 May 10.

Cardiology Department, Onassis Cardiac Surgery Center Athens.

Homozygous familial hypercholesterolemia (HoFH) is a rare genetic disorder, which leads to premature cardiovascular diseases. Microsomal triglyceride transport protein (MTP) inhibitors, such as lomitapide, offer a new therapeutic approach for treating these patients. We evaluated the lipid lowering (LL) efficacy of lomitapide according to several gene variants in MTP. Four clinically and/or molecularly defined HoFH patients were treated with lomitapide in addition to conventional high intensity LL therapy and regular lipoprotein apheresis. Two patients responded to the therapy, with a significant reduction of LDL cholesterol (LDL-C>50%, hyper-responders). Sequencing of all exonic and intronic flanking regions of the MTP gene in all patients revealed 36 different variants. The hyper-responders to lomitapide shared six common variants: rs17533489, rs79194015, rs745075, rs41275715, rs1491246, and rs17533517, which were not seen in hypo-responders (reduction in LDL-C<50%). We suggest that in HoFH variants in the MTP gene may impact on the therapeutic response to lomitapide, but this requires further investigation.
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http://dx.doi.org/10.5551/jat.34777DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7399272PMC
July 2016

Identification and Functional Characterization of a Calcium-Sensing Receptor Mutation in an Infant with Familial Hypocalciuric Hypercalcemia.

J Clin Res Pediatr Endocrinol 2016 Sep 18;8(3):341-6. Epub 2016 Apr 18.

Athens University Medical School, University General Hospital "Attikon", Third Department of Pediatrics, Athens, Greece, Phone: +30 2105832228 E-mail:

Familial hypocalciuric hypercalcemia (FHH) is an autosomal dominant disorder, associated with inactivating mutations of the calcium-sensing receptor (CaSR). To evaluate the functional significance of a CaSR mutation, identified in a young infant who presented with hypercalcemia and hypocalciuria. The CaSR gene coding sequences were analyzed by polymerase chain reaction amplification and direct sequencing analysis. The mutation identified was introduced by site-directed mutagenesis into a wild-type (WT) CaSR plasmid, and human embryonic kidney 293 T cells were transfected with either the WT or mutant CaSR. The function of the mutated CaSR protein was analyzed by evaluating the free intracellular calcium [(Ca2+)i] response after challenge with extracellular calcium (Ca2+). We identified a heterozygous mutation c.772_773delGTinsA in exon 4 resulting in the substitution of amino acid valine (Val) with amino acid arginine (Arg) and the premature pause of the translation 46 amino acids later (Val258ArgfsTer47). Functional assay showed that cells transfected with the mutant CaSR had a significantly poorer response to extracellular Ca2+ stimulation compared with the WT. We have shown that the c.772_773delGTinsA mutation causes a significant alteration of CaSR function leading to features of FHH in an affected young infant since the first months of life.
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http://dx.doi.org/10.4274/jcrpe.2800DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5096500PMC
September 2016

Glacial refugia, recolonization patterns and diversification forces in Alpine-endemic Megabunus harvestmen.

Mol Ecol 2016 Jun 18;25(12):2904-19. Epub 2016 May 18.

Molecular Ecology Group, Institute of Ecology, University of Innsbruck, Technikerstraße 25, 6020 Innsbruck, Austria.

The Pleistocene climatic fluctuations had a huge impact on all life forms, and various hypotheses regarding the survival of organisms during glacial periods have been postulated. In the European Alps, evidence has been found in support of refugia outside the ice shield (massifs de refuge) acting as sources for postglacial recolonization of inner-Alpine areas. In contrast, evidence for survival on nunataks, ice-free areas above the glacier, remains scarce. Here, we combine multivariate genetic analyses with ecological niche models (ENMs) through multiple timescales to elucidate the history of Alpine Megabunus harvestmen throughout the ice ages, a genus that comprises eight high-altitude endemics. ENMs suggest two types of refugia throughout the last glacial maximum, inner-Alpine survival on nunataks for four species and peripheral refugia for further four species. In some geographic regions, the patterns of genetic variation are consistent with long-distance dispersal out of massifs de refuge, repeatedly coupled with geographic parthenogenesis. In other regions, long-term persistence in nunataks may dominate the patterns of genetic divergence. Overall, our results suggest that glacial cycles contributed to allopatric diversification in Alpine Megabunus, both within and at the margins of the ice shield. These findings exemplify the power of ENM projections coupled with genetic analyses to identify hypotheses about the position and the number of glacial refugia and thus to evaluate the role of Pleistocene glaciations in driving species-specific responses of recolonization or persistence that may have contributed to observed patterns of biodiversity.
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http://dx.doi.org/10.1111/mec.13634DOI Listing
June 2016

Evaluation of bias on the assessment of diet breadth of herbivorous insects using molecular methods.

Insect Sci 2017 Apr 7;24(2):194-209. Epub 2016 Apr 7.

Animal Biodiversity and Evolution, Institut de Biologia Evolutiva (CSIC-Univ. Pompeu Fabra), Barcelona, Spain.

The interactions between herbivores and their host plants play a key role in ecological processes. Understanding the width and nature of these interactions is fundamental to ecology and conservation. Recent research on DNA-based inference of trophic associations suggests that the host range of phytophagous insects in the tropics may be wider than previously thought based on traditional observation. However, the reliability of molecular inference of ecological associations, still strongly dependent on PCR and thus exposed to the risk of contamination with environmental DNA, is under debate. Here, we explored alternative procedures to reduce the chance of amplification of external, nondiet DNA, including surface decontamination and analysis of mid/hind guts, comparing the results with those obtained using the standard protocol. We studied 261 specimens in eight species of Neotropical Chrysomelidae that yielded 316 psbA-trnH intergenic spacer sequences (cpDNA marker of putative diets) from unique and multiple-band PCR results. The taxonomic identity of these sequences was inferred using the automated pipeline BAGpipe, yielding results consistent with 31 plant families. Regardless of the protocol used, a wide taxonomic spectrum of food was inferred for all chrysomelid species. Canonical Correspondence Analysis using these data revealed significant differences attributed mainly to species (expectedly, since they represent different ecologies), but also to treatment (untreated vs. cleaned/gut samples) and PCR results (single vs. multiple bands). Molecular identification of diets is not straightforward and, regardless of the species' niche breadth, combining approaches that reduce external contamination and studying multiple individuals per species may help increasing confidence in results.
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http://dx.doi.org/10.1111/1744-7917.12303DOI Listing
April 2017

A Greek girl with 11β-hydroxylase deficiency due to compound heterozygosity for two novel mutations in CYP11B1 gene.

Endocrinol Diabetes Metab Case Rep 2015 7;2015:150074. Epub 2015 Aug 7.

Third Department of Pediatrics , Attikon University Hospital , Rimini 1 Haidari, Athens, 12462 , Greece.

Unlabelled: 11β-hydroxylase deficiency (11β-OHD), an autosomal recessive inherited disorder, accounts for 5-8% of congenital adrenal hyperplasia. In Greece, no cases of 11β-OHD have been described so far. The patient presented at the age of 13 months with mild virilization of external genitalia and pubic hair development since the age of 3 months. Hormonal profile showed elevated 11-deoxycortisol, adrenal androgens and ACTH levels. ACTH stimulation test was compatible with 11β-OHD. DNA of the proband and her parents was isolated and genotyped for CYP11B1 gene coding cytochrome P450c11. The girl was found to be compound heterozygous for two CYP11B1 novel mutations, p.Ala386Glu (exon 7), inherited from the father and p.Leu471Argin (exon 9) from the mother. Hydrocortisone supplementation therapy was initiated. Four years after presentation she remains normotensive, her growth pattern is normal and the bone age remains advanced despite adequate suppression of adrenal androgens.

Learning Points: 11β-hydroxylase (CYP11B1) deficiency (11OHD; OMIM +202010) is the second most common cause of CAH accounting for approximately 5-8% of cases with an incidence of 1:100 000-1:200 000 live births in non-consanguineous populations.Two CYP11B1 inactivating novel mutations, p.Ala386Glu and p.Leu471Arg are reportedRegarding newborn females, in utero androgen excess results in ambiguous genitalia, whereas in the male newborn diagnosis may go undetected. In infancy and childhood adrenal androgen overproduction results in peripheral precocious puberty in boys and various degrees of virilization in girls.Accumulation of 11-deoxycorticosterone and its metabolites causes hypertension in about two thirds of patients.Diagnosis lies upon elevated 11-deoxycortisol and DOC plus upstream precursors, such as 17α-hydroxyprogesterone and Δ4-androstenedione.The established treatment of steroid 11β-OHD is similar to that of steroid 21-hydroxylase deficiency and consists of glucocorticoid administration in order to reduce ACTH-driven DOC overproduction resulting in hypertension remission and improvement of the virilization symptoms.
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http://dx.doi.org/10.1530/EDM-15-0074DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4626658PMC
November 2015

Inhibition of Flavobacterium psychrophilum adhesion in vitro.

FEMS Microbiol Lett 2015 Dec 22;362(24):fnv203. Epub 2015 Oct 22.

Laboratory of Aquatic Pathobiology, Environmental and Marine Biology, Faculty of Science and Engineering, Åbo Akademi University, Biocity, Tykistökatu 6, FIN-20520, Turku, Finland.

Flavobacterium psychrophilum, a bacterium known for its adhesion ability to surfaces, has recently been shown to express phenotypic variation, as smooth and rough colony types in vitro. The aim of this study was to assess the effect of different compounds on adhesion of both phenotypes of F. psychrophilum to polystyrene surfaces of 96-well microtiter plates. Cells of F. psychrophilum of both phenotypes (10(8) CFU ml(-1)) were treated with different compounds for 1 h at 15°C and were subsequently allowed to adhere to polystyrene surfaces. The adhered cells were stained with crystal violet and optical density measured at 595 nm. The compounds were classified as non, weak, moderate or strong inhibitors of the F. psychrophilum adhesion. The results showed that a combination of selected carbohydrates, D- and L-amino acids, phytochemicals, an ion chelating agent (EDTA) and proteinase K strongly inhibited the adhesion of mainly smooth cells. We suggest that the compounds inhibit the cell adhesion by presumably disrupting the protein-protein interactions that hold smooth cells together and by negatively affecting the surface hydrophobicity of smooth cells. In contrast, rough cells exhibit resistance to most inhibitor compounds.
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http://dx.doi.org/10.1093/femsle/fnv203DOI Listing
December 2015