Publications by authors named "Oana Moldovan"

32 Publications

Morphological and Micromorphological Description of the Larvae of Two Endemic Species of (Coleoptera, Carabidae, Trechini).

Biology (Basel) 2021 Jul 6;10(7). Epub 2021 Jul 6.

Romanian Institute of Science and Technology, Saturn 24-26, 400504 Cluj-Napoca, Romania.

The morphological and ultrastructural descriptions of the larvae of two cave species of Trechini- (L. Miller, 1868) and (J. Frivaldszkyi, 1865)-are presented in this paper. The interest in studying these larvae lays in their rarity and the limited distribution of the species. The larvae were collected from caves in the Romanian Carpathians and were examined under a stereomicroscope and scanning electron microscopy. New important taxonomical and fine morphological characteristics are discussed together with conclusions on the larvae microhabitat as part of the measures to be taken by a proper management of caves.
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http://dx.doi.org/10.3390/biology10070627DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8301078PMC
July 2021

Assessment of Lithium, Macro- and Microelements in Water, Soil and Plant Samples from Karst Areas in Romania.

Materials (Basel) 2021 Jul 17;14(14). Epub 2021 Jul 17.

Cluj Department, Emil Racovita Institute of Speleology, 5 Clinicilor, 400006 Cluj-Napoca, Romania.

Lithium is a critical element for the modern society due to its uses in various industrial sectors. Despite its unequal distribution in the environment, Li occurrence in Romania was scarcely studied. In this study a versatile measurement method using ICP-MS technique was optimized for the determination of Li from various matrixes. Water, soil, and plant samples were collected from two important karst areas in the Dobrogea and Banat regions, Romania. The Li content was analyzed together with other macro- and microelement contents to find the relationship between the concentration of elements and their effect on the plants' Li uptake. In Dobrogea region, half of the studied waters had high Li concentration, ranging between 3.00 and 12.2 μg/L in the case of water and between 0.88 and 11.1 mg/kg DW in the case of plants, while the Li content in the soil samples were slightly comparable (from 9.85 to 11.3 mg/kg DW). In the Banat region, the concentration of Li was lower than in Dobrogea (1.40-1.46 μg/L in water, 6.50-9.12 mg/kg DW in soil, and 0.19-0.45 mg/kg DW in plants). Despite the high Li contents in soil, the Li was mostly unavailable for plants uptake and bioaccumulation.
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http://dx.doi.org/10.3390/ma14144002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8306611PMC
July 2021

Simultaneous Determination of As, Bi, Sb, Se, Te, Hg, Pb and Sn by Small-Sized Electrothermal Vaporization Capacitively Coupled Plasma Microtorch Optical Emission Spectrometry Using Direct Liquid Microsampling.

Molecules 2021 Apr 30;26(9). Epub 2021 Apr 30.

Faculty of Chemistry and Chemical Engineering, Babes-Bolyai University, Arany Janos 11, 400028 Cluj-Napoca, Romania.

The simultaneous determination of chemical vapor-generating elements involving derivatization is difficult even by inductively coupled plasma optical emission spectrometry or mass spectrometry. This study proposes a new direct liquid microsampling method for the simultaneous determination of As, Bi, Se, Te, Hg, Pb, and Sn, using a fully miniaturized set-up based on electrothermal vaporization capacitively coupled plasma microtorch optical emission spectrometry. The method is cost-effective, free from non-spectral interference, and easy to run by avoiding derivatization. The method involves the vaporization of analytes from the 10 µL sample and recording of episodic spectra generated in low-power (15 W) and low-Ar consumption (150 mL min) plasma microtorch interfaced with low-resolution microspectrometers. Selective vaporization at 1300 °C ensured the avoidance of non-spectral effects and allowed the use of external calibration. Several spectral lines for each element even in the range 180-210 nm could be selected. Generally, this spectral range is examined with large-scale instrumentation. Even in the absence of derivatization, the obtained detection limits were low (0.02-0.75 mg kg) and allowed analysis of environmental samples, such as cave and river sediments. The recovery was in the range of 86-116%, and the accuracy was better than 10%. The method is of general interest and could be implemented on any miniaturized or classical laboratory spectrometric instrumentation.
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http://dx.doi.org/10.3390/molecules26092642DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8124486PMC
April 2021

Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders.

Genet Med 2021 08 19;23(8):1551-1568. Epub 2021 Apr 19.

King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Sciences, MNGHA, Riyadh, Saudi Arabia.

Purpose: Within this study, we aimed to discover novel gene-disease associations in patients with no genetic diagnosis after exome/genome sequencing (ES/GS).

Methods: We followed two approaches: (1) a patient-centered approach, which after routine diagnostic analysis systematically interrogates variants in genes not yet associated to human diseases; and (2) a gene variant centered approach. For the latter, we focused on de novo variants in patients that presented with neurodevelopmental delay (NDD) and/or intellectual disability (ID), which are the most common reasons for genetic testing referrals. Gene-disease association was assessed using our data repository that combines ES/GS data and Human Phenotype Ontology terms from over 33,000 patients.

Results: We propose six novel gene-disease associations based on 38 patients with variants in the BLOC1S1, IPO8, MMP15, PLK1, RAP1GDS1, and ZNF699 genes. Furthermore, our results support causality of 31 additional candidate genes that had little published evidence and no registered OMIM phenotype (56 patients). The phenotypes included syndromic/nonsyndromic NDD/ID, oral-facial-digital syndrome, cardiomyopathies, malformation syndrome, short stature, skeletal dysplasia, and ciliary dyskinesia.

Conclusion: Our results demonstrate the value of data repositories which combine clinical and genetic data for discovering and confirming gene-disease associations. Genetic laboratories should be encouraged to pursue such analyses for the benefit of undiagnosed patients and their families.
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http://dx.doi.org/10.1038/s41436-021-01159-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8354858PMC
August 2021

Initial Upper Palaeolithic humans in Europe had recent Neanderthal ancestry.

Nature 2021 04 7;592(7853):253-257. Epub 2021 Apr 7.

Francis Crick Institute, London, UK.

Modern humans appeared in Europe by at least 45,000 years ago, but the extent of their interactions with Neanderthals, who disappeared by about 40,000 years ago, and their relationship to the broader expansion of modern humans outside Africa are poorly understood. Here we present genome-wide data from three individuals dated to between 45,930 and 42,580 years ago from Bacho Kiro Cave, Bulgaria. They are the earliest Late Pleistocene modern humans known to have been recovered in Europe so far, and were found in association with an Initial Upper Palaeolithic artefact assemblage. Unlike two previously studied individuals of similar ages from Romania and Siberia who did not contribute detectably to later populations, these individuals are more closely related to present-day and ancient populations in East Asia and the Americas than to later west Eurasian populations. This indicates that they belonged to a modern human migration into Europe that was not previously known from the genetic record, and provides evidence that there was at least some continuity between the earliest modern humans in Europe and later people in Eurasia. Moreover, we find that all three individuals had Neanderthal ancestors a few generations back in their family history, confirming that the first European modern humans mixed with Neanderthals and suggesting that such mixing could have been common.
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http://dx.doi.org/10.1038/s41586-021-03335-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8026394PMC
April 2021

Recommendations for genetic testing in cardiology: Review of major international guidelines.

Rev Port Cardiol (Engl Ed) 2020 Oct 6;39(10):597-610. Epub 2020 Oct 6.

Departamento de Medicina, Faculdade de Medicina, Universidade do Porto, Porto, Portugal; Serviço de Cardiologia, Centro Hospitalar Universitário de São João, Porto, Portugal; i3S - Instituto de Investigação e Inovação em Saúde, Porto, Portugal.

In recent years, the importance of genetic causes of cardiovascular diseases has been increasingly recognized, as the result of significant advances in molecular diagnosis techniques. This growing knowledge has enabled the identification of new phenotypes and the subclassification of clinical syndromes, impacting the therapeutic approach and genetic counseling offered to affected families. This paper describes the state of the art of genetic testing in the main cardiovascular diseases, aiming to provide a useful tool to help cardiologists and other health professionals involved in the care of individuals with hereditary heart diseases and their families.
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http://dx.doi.org/10.1016/j.repc.2020.03.016DOI Listing
October 2020

Database of Romanian cave invertebrates with a Red List of cave species and a list of hotspot/coldspot caves.

Biodivers Data J 2020 11;8:e53571. Epub 2020 Jun 11.

Emil Racovitza Institute of Speleology, Cluj-Napoca, Romania Emil Racovitza Institute of Speleology Cluj-Napoca Romania.

Background: The increasing human impact in Romanian caves raises the urgency of publishing a correct database of the strictly-adapted cave fauna. Previous attempts at indexing cave fauna and classifying caves by using their fauna opened many questions regarding the use of an incomplete list of cave species and mixed lists of troglobionts/stygobionts with troglophiles/stygophiles for ranking caves with priority for protection. It has also become obvious that there is a need to publish a list of Romanian cave species that are under threat. Cave species in Romania (and elsewhere) are endemic on small ranges, are unique and must be considered as important units for conservation. A cave must be equally protected if it has one or more rare and strictly endemic cave species. Although not exhaustive, we here provide the first checklist of Romanian troglobionts/stygobionts developed in the framework of the DARKFOOD and GROUNDWATERISK projects, coordinated by the "Emil Racovita" Institute of Speleology, Cluj-Napoca, Romania. The GIS application was used to complement the checklist of cave species with data on caves and surface environments above the caves. Until complete data on species diversity and population sizes are made available for each cave, measures of conservation can be implemented, based on the presence/absence of cave species, while classifications of caves for protection, based on the number of species, must be avoided. We also propose a list of Romanian caves with fauna that are under threat and a tentative Red List of Romanian troglobiont/stygobionts.

New Information: This is the first database with identified troglobiont and stygobiont species of Romania, with a critical analysis of their distribution inside the country. A list of caves that need protection for their rare and unique species and a tentative Red List of Romanian cave fauna are also added. A total of 173 species were identified, of which 77 troglobionts and 96 stygobionts are currently registered in 366 caves. The database is divided into two parts, one part with a list of troglobionts, their revised systematic position, cave name, cave code and geographic region; and the second part with the same information on stygobionts. The database represents the contribution of many active researchers, who are the authors of this paper and of review publications of many other authors of the "Emil Racoviță" Institute of Speleology.
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http://dx.doi.org/10.3897/BDJ.8.e53571DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303226PMC
June 2020

Mowat-Wilson syndrome: growth charts.

Orphanet J Rare Dis 2020 06 15;15(1):151. Epub 2020 Jun 15.

ATS Bergamo, Brembana Valley district, Bergamo, Italy.

Background: Mowat-Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene. It is characterized by moderate-severe intellectual disability, epilepsy, Hirschsprung disease and multiple organ malformations of which congenital heart defects and urogenital anomalies are the most frequent ones. To date, a clear description of the physical development of MWS patients does not exist. The aim of this study is to provide up-to-date growth charts specific for infants and children with MWS. Charts for males and females aged from 0 to 16 years were generated using a total of 2865 measurements from 99 MWS patients of different ancestries. All data were collected through extensive collaborations with the Italian MWS association (AIMW) and the MWS Foundation. The GAMLSS package for the R statistical computing software was used to model the growth charts. Height, weight, body mass index (BMI) and head circumference were compared to those from standard international growth charts for healthy children.

Results: In newborns, weight and length were distributed as in the general population, while head circumference was slightly smaller, with an average below the 30th centile. Up to the age of 7 years, weight and height distribution was shifted to slightly lower values than in the general population; after that, the difference increased further, with 50% of the affected children below the 5th centile of the general population. BMI distribution was similar to that of non-affected children until the age of 7 years, at which point values in MWS children increased with a less steep slope, particularly in males. Microcephaly was sometimes present at birth, but in most cases it developed gradually during infancy; many children had a small head circumference, between the 3rd and the 10th centile, rather than being truly microcephalic (at least 2 SD below the mean). Most patients were of slender build.

Conclusions: These charts contribute to the understanding of the natural history of MWS and should assist pediatricians and other caregivers in providing optimal care to MWS individuals who show problems related to physical growth. This is the first study on growth in patients with MWS.
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http://dx.doi.org/10.1186/s13023-020-01418-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7294656PMC
June 2020

[Epileptic Encephalopathies of Childhood: The New Paradigm of Genetic Diagnosis].

Acta Med Port 2020 Jun 31;33(6):415-424. Epub 2020 May 31.

Unidade de Neuropediatria, Departamento de Pediatria. Hospital de Santa Maria. Centro Hospitalar e Universitário de Lisboa Norte. Lisboa. Portugal.

Introduction: Epileptic encephalopathies of childhood are characterized by early seizure-onset and adverse neurological outcomes. The development of new genetic techniques has allowed an exponential identification of the genes that are involved. Over the last years, we have observed a revolution in the diagnostic paradigm. However, there are no international guidelines regarding the diagnosis of genetic epileptic encephalopathies. We aim to discuss the current knowledge about the genetic architecture of epileptic encephalopathies of childhood.

Material And Methods: review of the literature about infantile epileptic encephalopathies and the genetic tests currently available. A systematic approach and a diagnostic algorithm to use in clinical practice were proposed.

Results: Initially the patient's phenotype should be determined based on the seizure type, electroencephalogram pattern and neuroimaging. Patients with unclear etiology after brain magnetic resonance imaging should undergo an appropriate metabolic investigation to promptly exclude treatable conditions. Further studies should also include other genetic causes, mainly if associated with particular phenotypic features. Chromosomal microarray analysis should be firstly considered, particularly if dysmorphic or polymalformative abnormalities are present. If this is negative and/or there are no physical features, the next step should be next-generation sequencing multigene panels or whole-exome sequencing. Single gene study should only be considered when the patient's phenotype is highly suggestive of a specific syndrome.

Conclusion: The revolution of the genetic knowledge about epileptic encephalopathies of childhood has led to a complex diagnostic approach. This new paradigm poses significant implications in genetic counselling, treatment and prognosis.
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http://dx.doi.org/10.20344/amp.12550DOI Listing
June 2020

Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients.

Front Neurosci 2019 8;13:1135. Epub 2019 Nov 8.

Genomes & Disease Group, Molecular Medicine and Chronic Diseases Research Centre (CiMUS), Santiago de Compostela University-IDIS, Santiago de Compostela, Spain.

In order to characterize the genetic architecture of epilepsy in a pediatric population from the Iberian Peninsula (including the Canary Islands), we conducted targeted exome sequencing of 246 patients with infantile-onset seizures with or without neurodevelopmental delay. We detected 107 variants in 48 different genes, which were implicated in neuronal excitability, neurodevelopment, synaptic transmission, and metabolic pathways. In 104 cases (42%) we detected variant(s) that we classified as pathogenic or likely pathogenic. Of the 48 mutated genes, 32 were dominant, 8 recessive and 8 X-linked. Of the patients for whom family studies could be performed and in whom pathogenic variants were identified in dominant or X-linked genes, 82% carried mutations. The involvement of small copy number variations (CNVs) is 9%. The use of progressively updated custom panels with high mean vertical coverage enabled establishment of a definitive diagnosis in a large proportion of cases (42%) and detection of CNVs (even duplications) with high fidelity. In 10.5% of patients we detected associations that are pending confirmation via functional and/or familial studies. Our findings had important consequences for the clinical management of the probands, since a large proportion of the cohort had been clinically misdiagnosed, and their families were subsequently able to avail of genetic counseling. In some cases, a more appropriate treatment was selected for the patient in question, or an inappropriate treatment discontinued. Our findings suggest the existence of modifier genes that may explain the incomplete penetrance of some epilepsy-related genes. We discuss possible reasons for non-diagnosis and future research directions. Further studies will be required to uncover the roles of structural variants, epimutations, and oligogenic inheritance in epilepsy, thereby providing a more complete molecular picture of this disease. In summary, given the broad phenotypic spectrum of most epilepsy-related genes, efficient genomic tools like the targeted exome sequencing panel described here are essential for early diagnosis and treatment, and should be implemented as first-tier diagnostic tools for children with epilepsy without a clear etiologic basis.
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http://dx.doi.org/10.3389/fnins.2019.01135DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6856296PMC
November 2019

Arrhythmogenic right ventricular cardiomyopathy presenting as myocarditis in young patients: a concealed relationship.

Rev Esp Cardiol (Engl Ed) 2020 May 18;73(5):424-426. Epub 2019 Nov 18.

Department of Pediatric Cardiology, Hospital de Santa Cruz - Centro Hospitalar Lisboa Ocidental, Lisboa, Portugal.

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http://dx.doi.org/10.1016/j.rec.2019.10.007DOI Listing
May 2020

Local- versus broad-scale environmental drivers of continental -diversity patterns in subterranean spider communities across Europe.

Proc Biol Sci 2019 11 30;286(1914):20191579. Epub 2019 Oct 30.

Department of Life Sciences and Systems Biology, University of Torino, Torino, Italy.

Macroecologists seek to identify drivers of community turnover (-diversity) through broad spatial scales. However, the influence of local habitat features in driving broad-scale -diversity patterns remains largely untested, owing to the objective challenges of associating local-scale variables to continental-framed datasets. We examined the relative contribution of local- versus broad-scale drivers of continental -diversity patterns, using a uniquely suited dataset of cave-dwelling spider communities across Europe (35-70° latitude). Generalized dissimilarity modelling showed that geographical distance, mean annual temperature and size of the karst area in which caves occurred drove most of -diversity, with differential contributions of each factor according to the level of subterranean specialization. Highly specialized communities were mostly influenced by geographical distance, while less specialized communities were mostly driven by mean annual temperature. Conversely, local-scale habitat features turned out to be meaningless predictors of community change, which emphasizes the idea of caves as the human accessible fraction of the extended network of fissures that more properly represents the elective habitat of the subterranean fauna. To the extent that the effect of local features turned to be inconspicuous, caves emerge as experimental model systems in which to study broad biological patterns without the confounding effect of local habitat features.
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http://dx.doi.org/10.1098/rspb.2019.1579DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6842848PMC
November 2019

Continental data on cave-dwelling spider communities across Europe (Arachnida: Araneae).

Biodivers Data J 2019 8;7:e38492. Epub 2019 Oct 8.

Department of Life Sciences and Systems Biology, University of Turin, Turin, Italy Department of Life Sciences and Systems Biology, University of Turin Turin Italy.

Background: Spiders (Arachnida: Araneae) are widespread in subterranean ecosystems worldwide and represent an important component of subterranean trophic webs. Yet, global-scale diversity patterns of subterranean spiders are still mostly unknown. In the frame of the CAWEB project, a European joint network of cave arachnologists, we collected data on cave-dwelling spider communities across Europe in order to explore their continental diversity patterns. Two main datasets were compiled: one listing all subterranean spider species recorded in numerous subterranean localities across Europe and another with high resolution data about the subterranean habitat in which they were collected. From these two datasets, we further generated a third dataset with individual geo-referenced occurrence records for all these species.

New Information: Data from 475 geo-referenced subterranean localities (caves, mines and other artificial subterranean sites, interstitial habitats) are herein made available. For each subterranean locality, information about the composition of the spider community is provided, along with local geomorphological and habitat features. Altogether, these communities account for > 300 unique taxonomic entities and 2,091 unique geo-referenced occurrence records, that are made available via the Global Biodiversity Information Facility (GBIF) (Mammola and Cardoso 2019). This dataset is unique in that it covers both a large geographic extent (from 35° south to 67° north) and contains high-resolution local data on geomorphological and habitat features. Given that this kind of high-resolution data are rarely associated with broad-scale datasets used in macroecology, this dataset has high potential for helping researchers in tackling a range of biogeographical and macroecological questions, not necessarily uniquely related to arachnology or subterranean biology.
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http://dx.doi.org/10.3897/BDJ.7.e38492DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6794329PMC
October 2019

Puffy feet in a female neonate.

BMJ Case Rep 2016 Aug 10;2016. Epub 2016 Aug 10.

Department of Pediatrics, Service of Neonatology, Hospital Santa Maria-CHLN, Academic Medical Center of Lisbon, Lisboa, Portugal.

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http://dx.doi.org/10.1136/bcr-2016-215872DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4986134PMC
August 2016

The genetic history of Ice Age Europe.

Nature 2016 06 2;534(7606):200-5. Epub 2016 May 2.

Instituto Internacional de Investigaciones Prehistóricas, Universidad de Cantabria, 39005 Santander, Spain.

Modern humans arrived in Europe ~45,000 years ago, but little is known about their genetic composition before the start of farming ~8,500 years ago. Here we analyse genome-wide data from 51 Eurasians from ~45,000-7,000 years ago. Over this time, the proportion of Neanderthal DNA decreased from 3-6% to around 2%, consistent with natural selection against Neanderthal variants in modern humans. Whereas there is no evidence of the earliest modern humans in Europe contributing to the genetic composition of present-day Europeans, all individuals between ~37,000 and ~14,000 years ago descended from a single founder population which forms part of the ancestry of present-day Europeans. An ~35,000-year-old individual from northwest Europe represents an early branch of this founder population which was then displaced across a broad region, before reappearing in southwest Europe at the height of the last Ice Age ~19,000 years ago. During the major warming period after ~14,000 years ago, a genetic component related to present-day Near Easterners became widespread in Europe. These results document how population turnover and migration have been recurring themes of European prehistory.
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http://dx.doi.org/10.1038/nature17993DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4943878PMC
June 2016

Macrodactyly in tuberous sclerosis complex: Case report and review of the literature.

Am J Med Genet A 2016 07 26;170(7):1903-7. Epub 2016 Apr 26.

Serviço de Genética Médica, Departamento de Pediatria, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Centro Académico de Medicina de Lisboa, Lisbon, Portugal.

Macrodactyly in the context of tuberous sclerosis complex (TSC) is a known but rare manifestation. We report the case of a boy diagnosed with TSC at 2 years and 4 months of age, presenting with bilateral macrodactyly of the first three fingers of both hands, with underlying radiographic changes, in whom molecular analysis identified a frameshift mutation on the TSC1 gene (encoding hamartin), leading to a premature stop codon. We reviewed the literature for reported cases of TSC patients with the same manifestation. In four of 14 patients, including ours, macrodactyly caused some type of joint limitation or flexion deformity, thus contradicting the established idea that this is a finding without clinical significance. Our patient is, to our knowledge, the first reported to have clear bilateral involvement. We briefly discuss the underlying mechanism for this phenomenon, which has yet to be fully elucidated, although somatic mosaicism for loss of heterozygosity at TSC loci is a plausible explanation. © 2016 Wiley Periodicals, Inc.
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http://dx.doi.org/10.1002/ajmg.a.37675DOI Listing
July 2016

Erratum to: Response of invertebrates from the hyporheic zone of chalk rivers to eutrophication and land use.

Environ Sci Pollut Res Int 2016 Mar;23(5):4741

Centre for Research in Ecology, Department of Life Sciences, University of Roehampton, Holybourne Avenue, London, SW15 4JD, UK.

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http://dx.doi.org/10.1007/s11356-016-6067-9DOI Listing
March 2016

Response of invertebrates from the hyporheic zone of chalk rivers to eutrophication and land use.

Environ Sci Pollut Res Int 2016 Mar 4;23(5):4729-40. Epub 2015 Nov 4.

"Emil Racovita" Institute of Speleology, Clinicilor 5, 400006, Cluj-Napoca, Romania.

Whereas the response of lotic benthic macroinvertebrates to different environmental stressors is a widespread practice nowadays in assessing the water and habitat quality, the use of hyporheic zone invertebrates is still in its infancy. In this study, classification and regression trees analysis were employed in order to assess the ecological requirements and the potential as bioindicators for the hyporheic zone invertebrates inhabiting four lowland chalk rivers (south England) with contrasting eutrophication levels (based on surface nitrate concentrations) and magnitude of land use (based on percentage of fine sediments load and median interstitial space). Samples of fauna, water and sediment were sampled twice, during low (summer) and high (winter) groundwater level, at depths of 20 and 35 cm. Certain groups of invertebrates (Glossosomatidae and Psychomyiidae caddisflies, and riffle beetles) proved to be good indicators of rural catchments, moderately eutrophic and with high fine sediment load. A diverse community dominated by microcrustaceans (copepods and ostracods) were found as good indicators of highly eutrophic urban streams, with moderate-high fine sediment load. However, the use of other taxonomic groups (e.g. chironomids, oligochaetes, nematodes, water mites and the amphipod Gammarus pulex), very widespread in the hyporheic zone of all sampled rivers, is of limited use because of their high tolerance to the analysed stressors. We recommend the use of certain taxonomic groups (comprising both meiofauna and macroinvertebrates) dwelling in the chalk hyporheic zone as indicators of eutrophication and colmation and, along with routine benthic sampling protocols, for a more comprehensive water and habitat quality assessment of chalk rivers.
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http://dx.doi.org/10.1007/s11356-015-5703-0DOI Listing
March 2016

An early modern human from Romania with a recent Neanderthal ancestor.

Nature 2015 Aug 22;524(7564):216-9. Epub 2015 Jun 22.

Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Leipzig 04103, Germany.

Neanderthals are thought to have disappeared in Europe approximately 39,000-41,000 years ago but they have contributed 1-3% of the DNA of present-day people in Eurasia. Here we analyse DNA from a 37,000-42,000-year-old modern human from Peştera cu Oase, Romania. Although the specimen contains small amounts of human DNA, we use an enrichment strategy to isolate sites that are informative about its relationship to Neanderthals and present-day humans. We find that on the order of 6-9% of the genome of the Oase individual is derived from Neanderthals, more than any other modern human sequenced to date. Three chromosomal segments of Neanderthal ancestry are over 50 centimorgans in size, indicating that this individual had a Neanderthal ancestor as recently as four to six generations back. However, the Oase individual does not share more alleles with later Europeans than with East Asians, suggesting that the Oase population did not contribute substantially to later humans in Europe.
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http://dx.doi.org/10.1038/nature14558DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4537386PMC
August 2015

Ancient human footprints in Ciur-Izbuc Cave, Romania.

Am J Phys Anthropol 2014 Sep 7;155(1):128-35. Epub 2014 Jul 7.

Department of Anthropology, Kutztown University, Kutztown, PA.

In 1965, Ciur-Izbuc Cave in the Carpathian Mountains of Romania was discovered to contain about 400 ancient human footprints. At that time, researchers interpreted the footprints to be those of a man, woman and child who entered the cave by an opening which is now blocked but which was usable in antiquity. The age of the prints (≈10-15 ka BP) was based partly on their association with cave bear (Ursus spelaeus) footprints and bones, and the belief that cave bears became extinct near the end of the last ice age. Since their discovery, the human and bear evidence and the cave itself have attracted spelunkers and other tourists, with the result that the ancient footprints are in danger of destruction by modern humans. In an effort to conserve the footprints and information about them and to reanalyze them with modern techiques, Ciur-Izbuc Cave was restudied in summer of 2012. Modern results are based on fewer than 25% of the originally described human footprints, the rest having been destroyed. It is impossible to confirm some of the original conclusions. The footprints do not cluster about three different sizes, and the number of individuals is estimated to be six or seven. Two cases of bears apparently overprinting humans help establish antiquity, and C-14 dates suggest a much greater age than originally thought. Unfortunately, insufficient footprints remain to measure movement variables such as stride length. However, detailed three-dimensional mapping of the footprints does allow a more precise description of human movements within the cave.
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http://dx.doi.org/10.1002/ajpa.22561DOI Listing
September 2014

Cardiac Anderson-Fabry disease: lessons from a 25-year-follow up.

Rev Port Cardiol 2014 Apr 13;33(4):247.e1-7. Epub 2014 May 13.

Lisbon Academic Medical Centre/Cardiovascular Centre of the University of Lisbon, Portugal.

Sarcomeric hypertrophic cardiomyopathy (HCM) is the most common genetic cause of unexplained left ventricular hypertrophy and has no specific treatment. Anderson-Fabry disease (AFD) is rare and usually multisystemic, but occasionally expresses clinically as a predominantly cardiac phenotype mimicking HCM. We describe an illustrative case of a patient followed regularly for 25 years with a diagnosis of familial HCM and no identified sarcomeric mutations. Next-generation sequencing analysis identified a novel pathogenic mutation in the GLA gene, leading to a diagnosis of previously unknown multisystemic AFD, with consequent implications for the patient's treatment and prognosis and familial screening.
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http://dx.doi.org/10.1016/j.repc.2013.10.014DOI Listing
April 2014

Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations.

Eur J Hum Genet 2014 Jul 27;22(7):881-7. Epub 2013 Nov 27.

South West Thames Regional Genetics Service, St George's Healthcare NHS Trust, London, UK.

Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR) (MIM No.152950) is a rare autosomal dominant condition for which a causative gene has recently been identified. Mutations in the kinesin family member 11 (KIF11) gene have now been described in 16 families worldwide. This is a review of the condition based on the clinical features of 37 individuals from 22 families. This report includes nine previously unreported families and additional information for some of those reported previously. The condition arose de novo in 8/20 families (40%). The parental results were not available for two probands. The mutations were varied and include missense, nonsense, frameshift, and splice site and are distributed evenly throughout the KIF11 gene. In our cohort, 86% had microcephaly, 78% had an ocular abnormality consistent with the diagnosis, 46% had lymphoedema, 73% had mild-moderate learning difficulties, 8% had epilepsy, and 8% had a cardiac anomaly. We identified three individuals with KIF11 mutations but no clinical features of MCLMR demonstrating reduced penetrance. The variable expression of the phenotype and the presence of mildly affected individuals indicates that the prevalence may be higher than expected, and we would therefore recommend a low threshold for genetic testing.
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http://dx.doi.org/10.1038/ejhg.2013.263DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3938398PMC
July 2014

Can environment predict cryptic diversity? The case of Niphargus inhabiting Western Carpathian groundwater.

PLoS One 2013 21;8(10):e76760. Epub 2013 Oct 21.

Emil Racoviţă Institute of Speleology, Romanian Academy, Cluj-Napoca, Romania.

In the last decade, several studies have shown that subterranean aquatic habitats harbor cryptic species with restricted geographic ranges, frequently occurring as isolated populations. Previous studies on aquatic subterranean species have implied that habitat heterogeneity can promote speciation and that speciation events can be predicted from species' distributions. We tested the prediction that species distributed across different drainage systems and karst sectors comprise sets of distinct species. Amphipods from the genus Niphargus from 11 caves distributed along the Western Carpathians (Romania) were investigated using three independent molecular markers (COI, H3 and 28S). The results showed that: 1) the studied populations belong to eight different species that derive from two phylogenetically unrelated Niphargus clades; 2) narrow endemic species in fact comprise complexes of morphologically similar species that are indistinguishable without using a molecular approach. The concept of monophyly, concordance between mitochondrial and nuclear DNA, and the value of patristic distances were used as species delimitation criteria. The concept of cryptic species is discussed within the framework of the present work and the contribution of these species to regional biodiversity is also addressed.
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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0076760PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3804523PMC
August 2014

Oribatid mite fossils from pre-Quaternary sediments in Slovenian caves II. Amiracarus pliocennatus n.gen., n.sp. (Microzetidae) from Pliocene, with comments on the other species of the genus.

Zootaxa 2013 ;3670:557-78

Institute for Environmental Studies, Charles University in Prague, Faculty of Science, Benátská 2, 128 01 Prague 2, Czech Republic.

Amiracarus pliocennatus n. gen., n. sp. is described based on fossils found in Pliocene and Pleistocene clastic sediments in caves of the Slovenian Classical Karst (Kras). Diagnosis and relationships of the new genus are given and relationships within the extant species of the genus are discussed as well as variability and reliability of some characters, used for species differentiation. Amiracarus senensis (Bernini 1975) n. comb. is proposed as a type species of the new genus, and other four extant species are newly placed in Amiracarus n. gen.: A. abeloosi (Lions 1978) n. comb., A. discrepans (Mahunka 1966) n. comb., A. grootaerti (Wauthy &Ducarme 2011) n. comb. and A. similis (Subìas & Iturrondobeitia 1978) n. comb. Finding of a fossil individual of M. senensis Bernini 1975 in Ponicova Cave of South-West Carpathians in Romania is reported and a description of this individual is given. Relationships with the genus Miracarus Kunst 1959 are discussed and a new diagnosis of this genus is also given, along with the redescription of its type species, M. hurkai Kunst 1959.
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http://dx.doi.org/10.11646/zootaxa.3670.4.8DOI Listing
October 2015

Caffey disease in neonatal period: the importance of the family!

BMJ Case Rep 2012 Oct 9;2012. Epub 2012 Oct 9.

Department of Paediatrics, Hospital Santa Maria, Centro Hospitalar Lisboa Norte, Lisbon, Portugal.

A male newborn was apparently well until his second day of life, when increased irritability and a swelling in his right leg were noted. He was rooming-in with his mother since birth. On examination, a mass on the anterior surface of the right leg was noticed. The mass was firm, elongated, ill-defined, unmovable and painful at palpation. No overlying skin changes were seen. The newborn had a family history of neonatal bone swelling with resolution before the age of 2. Subsequent images showed hyperostosis in the diaphysis of the right tibia. After exclusion of other conditions such as trauma, osteomyelitis and congenital syphilis, the involvement of the tibial diaphysis, sparing the epiphyses and the benign course of the disease in family history, were indicative of Caffey disease. The genetic study confirmed this diagnosis. Caffey disease, although rare, should not be overlooked in the diagnostic approach to childhood bone swelling.
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http://dx.doi.org/10.1136/bcr-2012-006996DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4543740PMC
October 2012

Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum.

Hum Mutat 2012 Jan 23;33(1):64-72. Epub 2011 Nov 23.

AP-HP, Groupe Hospitalier Pitié Salpêtrière, Unité Fonctionnelle de Génétique Clinique, Département de Génétique et Cytogénétique, Centre de Référence Maladies Rares, Déficiences Intellectuelles de Causes Rares, Paris, France.

Pitt-Hopkins syndrome (PTHS), characterized by severe intellectual disability and typical facial gestalt, is part of the clinical spectrum of Rett-like syndromes. TCF4, encoding a basic helix-loop-helix (bHLH) transcription factor, was identified as the disease-causing gene with de novo molecular defects. While PTHS appears to be a recognizable clinical entity, it seems to remain underdiagnosed, especially when facial gestalt is less typical. With the aim to facilitate the diagnosis of PTHS and to increase its rate and specificity, we have investigated 33 novel patients and defined a Clinical Diagnosis Score. Analysis of 112 individuals (79 previously reported and 33 novel patients) allowed us to delineate the TCF4 mutational spectrum, with 40% point mutations, 30% small deletions/insertions, and 30% deletions. Most of these were private mutations and generated premature stop codons. Missense mutations were localized in the bHLH domain, which is a mutational hotspot. No obvious difference was observed between patients harboring truncating, missense mutations, or deletions, further supporting TCF4 haploinsufficiency as the molecular mechanism underlying PTHS. In this study, we have summarized the current knowledge of TCF4 molecular pathology, reported all the mutations in the TCF4 database (http://www.LOVD.nl/TCF4), and present a novel and comprehensive diagnostic strategy for PTHS.
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http://dx.doi.org/10.1002/humu.21639DOI Listing
January 2012

Genetic diagnosis of X-linked dominant Hypophosphatemic Rickets in a cohort study: tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type.

BMC Med Genet 2011 Sep 8;12:116. Epub 2011 Sep 8.

Fundación Pública Galega de Medicina Xenómica, Santiago de Compostela, Spain.

Background: Genetic Hypophosphatemic Rickets (HR) is a group of diseases characterized by renal phosphate wasting with inappropriately low or normal 1,25-dihydroxyvitamin D3 (1,25(OH)2D) serum levels. The most common form of HR is X-linked dominant HR (XLHR) which is caused by inactivating mutations in the PHEX gene. The purpose of this study was to perform genetic diagnosis in a cohort of patients with clinical diagnosis of HR, to perform genotype-phenotype correlations of those patients and to compare our data with other HR cohort studies.

Methods: Forty three affected individuals from 36 non related families were analyzed. For the genetic analysis, the PHEX gene was sequenced in all of the patients and in 13 cases the study was complemented by mRNA sequencing and Multiple Ligation Probe Assay. For the genotype-phenotype correlation study, the clinical and biochemical phenotype of the patients was compared with the type of mutation, which was grouped into clearly deleterious or likely causative, using the Mann-Whitney and Fisher's exact test.

Results: Mutations in the PHEX gene were identified in all the patients thus confirming an XLHR. Thirty four different mutations were found distributed throughout the gene with higher density at the 3' end. The majority of the mutations were novel (69.4%), most of them resulted in a truncated PHEX protein (83.3%) and were family specific (88.9%). Tubular reabsorption of phosphate (TRP) and 1,25(OH)2D serum levels were significantly lower in patients carrying clearly deleterious mutations than in patients carrying likely causative ones (61.39 ± 19.76 vs. 80.14 ± 8.80%, p = 0.028 and 40.93 ± 30.73 vs. 78.46 ± 36.27 pg/ml, p = 0.013).

Conclusions: PHEX gene mutations were found in all the HR cases analyzed, which was in contrast with other cohort studies. Patients with clearly deleterious PHEX mutations had lower TRP and 1,25(OH)2D levels suggesting that the PHEX type of mutation might predict the XLHR phenotype severity.
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http://dx.doi.org/10.1186/1471-2350-12-116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3189111PMC
September 2011

Peştera cu Oase 2 and the cranial morphology of early modern Europeans.

Proc Natl Acad Sci U S A 2007 Jan 16;104(4):1165-70. Epub 2007 Jan 16.

Department of Anthropology, Campus Box 1114, Washington University, St. Louis, MO 63130, USA.

Between 2003 and 2005, the Peştera cu Oase, Romania yielded a largely complete early modern human cranium, Oase 2, scattered on the surface of a Late Pleistocene hydraulically displaced bone bed containing principally the remains of Ursus spelaeus. Multiple lines of evidence indicate an age of approximately 40.5 thousand calendar years before the present (approximately 35 ka 14C B.P.). Morphological comparison of the adolescent Oase 2 cranium to relevant Late Pleistocene human samples documents a suite of derived modern human and/or non-Neandertal features, including absence of a supraorbital torus, subrectangular orbits, prominent canine fossae, narrow nasal aperture, level nasal floor, angled and anteriorly oriented zygomatic bones, a high neurocranium with prominent parietal bosses and marked sagittal parietal curvature, superiorly positioned temporal zygomatic root, vertical auditory porous, laterally bulbous mastoid processes, superiorly positioned posterior semicircular canal, absence of a nuchal torus and a suprainiac fossa, and a small occipital bun. However, these features are associated with an exceptionally flat frontal arc, a moderately large juxtamastoid eminence, extremely large molars that become progressively larger distally, complex occlusal morphology of the upper third molar, and relatively anteriorly positioned zygomatic arches. Moreover, the featureless occipital region and small mastoid process are at variance with the large facial skeleton and dentition. This unusual mosaic in Oase 2, some of which is paralleled in the Oase 1 mandible, indicates both complex population dynamics as modern humans dispersed into Europe and significant ongoing human evolution once modern humans were established within Europe.
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http://dx.doi.org/10.1073/pnas.0610538104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1783092PMC
January 2007
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