scholarly journals Detection of Morphological Abnormalities in Schizophrenia: An Important Step to Identify Associated Genetic Disorders or Etiologic Subtypes

2021 ◽  
Vol 22 (17) ◽  
pp. 9464
Author(s):  
Anne-Clémence Priol ◽  
Laure Denis ◽  
Gaella Boulanger ◽  
Mathieu Thépaut ◽  
Marie-Maude Geoffray ◽  
...  
Keyword(s):  
Current Knowledge ◽  
Genetic Disorders ◽  
Copy Number Variant ◽  
Epidemiological Studies ◽  
Extensive Literature ◽  
Genetic Associations ◽  
Genetic Syndromes ◽  
Adoption Studies ◽  
Clinical Genetic ◽  
Diagnostic Strategies

Current research suggests that alterations in neurodevelopmental processes, involving gene X environment interactions during key stages of brain development (prenatal period and adolescence), are a major risk for schizophrenia. First, epidemiological studies supporting a genetic contribution to schizophrenia are presented in this article, including family, twin, and adoption studies. Then, an extensive literature review on genetic disorders associated with schizophrenia is reviewed. These epidemiological findings and clinical observations led researchers to conduct studies on genetic associations in schizophrenia, and more specifically on genomics (CNV: copy-number variant, and SNP: single nucleotide polymorphism). The main structural (CNV) and sequence (SNP) variants found in individuals with schizophrenia are reported here. Evidence of genetic contributions to schizophrenia and current knowledge on genetic syndromes associated with this psychiatric disorder highlight the importance of a clinical genetic examination to detect minor physical anomalies in individuals with ultra-high risk of schizophrenia. Several dysmorphic features have been described in schizophrenia, especially in early onset schizophrenia, and can be viewed as neurodevelopmental markers of vulnerability. Early detection of individuals with neurodevelopmental abnormalities is a fundamental issue to develop prevention and diagnostic strategies, therapeutic intervention and follow-up, and to ascertain better the underlying mechanisms involved in the pathophysiology of schizophrenia.

scholarly journals Cancer of Unknown Primary: Challenges and Progress in Clinical Management

Cancers ◽  
2021 ◽  
Vol 13 (3) ◽  
pp. 451
Author(s):  
Noemi Laprovitera ◽  
Mattia Riefolo ◽  
Elisa Ambrosini ◽  
Christiane Klec ◽  
Martin Pichler ◽  
...  
Keyword(s):  
Current Knowledge ◽  
Distant Metastases ◽  
Cancer Of Unknown Primary ◽  
Unknown Primary ◽  
Diagnostic Strategies ◽  
Molecular Features ◽  
Tissue Of Origin ◽  
Novel Therapeutic Strategies ◽  
Aggressive Clinical Behavior

Distant metastases are the main cause of cancer-related deaths in patients with advanced tumors. A standard diagnostic workup usually contains the identification of the tissue-of-origin of metastatic tumors, although under certain circumstances, it remains elusive. This disease setting is defined as cancer of unknown primary (CUP). Accounting for approximately 3–5% of all cancer diagnoses, CUPs are characterized by an aggressive clinical behavior and represent a real therapeutic challenge. The lack of determination of a tissue of origin precludes CUP patients from specific evidence-based therapeutic options or access to clinical trial, which significantly impacts their life expectancy. In the era of precision medicine, it is essential to characterize CUP molecular features, including the expression profile of non-coding RNAs, to improve our understanding of CUP biology and identify novel therapeutic strategies. This review article sheds light on this enigmatic disease by summarizing the current knowledge on CUPs focusing on recent discoveries and emerging diagnostic strategies.

scholarly journals Molecular Subtyping of Blastocystis sp. Isolated from Farmed Animals in Southern Italy

2021 ◽  
Vol 9 (8) ◽  
pp. 1656
Author(s):  
Simona Gabrielli ◽  
Marialetizia Palomba ◽  
Federica Furzi ◽  
Emanuele Brianti ◽  
Gabriella Gaglio ◽  
...  
Keyword(s):  
Current Knowledge ◽  
Pcr Amplification ◽  
Epidemiological Studies ◽  
Fallow Deer ◽  
Small Subunit ◽  
Zoonotic Transmission ◽  
Ssu Rrna ◽  
Molecular Approaches ◽  
Wide Range ◽  
Blastocystis Sp

Blastocystis is a common intestinal protist distributed worldwide, infecting humans and a wide range of domestic and wild animals. It exhibits an extensive genetic diversity and, so far, 25 distinct small subunit ribosomal RNA (SSU rRNA) lineages termed subtypes (STs)) have been characterized; among them, 12 have thus far been reported in humans. The aims of the present study were to detect and genetically characterize Blastocystis sp. in synantropic animals to improve our current knowledge on the distribution and zoonotic transmission of Blastocystis STs in Italy. Samples were collected from N = 193 farmed animals and submitted to DNA extraction and PCR amplification of the SSU rRNA. Blastocystis was detected in 60 samples (31.08%) and successfully subtyped. Phylogenetic analysis evidenced that the isolates from fallow deer, goats, and pigs (N = 9) clustered within the ST5; those from pheasants (N = 2) in the ST6; those from chickens (N = 8) in the ST7; those from sheep (N = 6) in the ST10; and those from water buffaloes (N = 9) in the ST14 clade. The comparison between the present isolates from animals and those previously detected in humans in Italy suggested the animal-to-human spillover for ST6 and ST7. The present study represents the widest Blastocystis survey performed thus far in farmed animals in Italy. Further epidemiological studies using molecular approaches are required to determine the occurrence and distribution of Blastocystis STs in other potential animal reservoirs in Italy and to define the pathways of zoonotic transmission.

scholarly journals Exome sequencing in patients with antiepileptic drug exposure and complex phenotypes

2019 ◽  
Vol 105 (4) ◽  
pp. 384-389 ◽  
Author(s):  
Adam Jackson ◽  
Heather Ward ◽  
Rebecca Louise Bromley ◽  
Charulata Deshpande ◽  
Pradeep Vasudevan ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Copy Number ◽  
Developmental Disorders ◽  
Drug Exposure ◽  
Genetic Disorders ◽  
Copy Number Variants ◽  
Copy Number Variant ◽  
In Utero ◽  
Developmental Problems ◽  
Number Of Children

IntroductionFetal anticonvulsant syndrome (FACS) describes the pattern of physical and developmental problems seen in those children exposed to certain antiepileptic drugs (AEDs) in utero. The diagnosis of FACS is a clinical one and so excluding alternative diagnoses such as genetic disorders is essential.MethodsWe reviewed the pathogenicity of reported variants identified on exome sequencing in the Deciphering Developmental Disorders (DDD) Study in 42 children exposed to AEDs in utero, but where a diagnosis other than FACS was suspected. In addition, we analysed chromosome microarray data from 10 patients with FACS seen in a Regional Genetics Service.ResultsSeven children (17%) from the DDD Study had a copy number variant or pathogenic variant in a developmental disorder gene which was considered to explain or partially explain their phenotype. Across the AED exposure types, variants were found in 2/15 (13%) valproate exposed cases and 3/14 (21%) carbamazepine exposed cases. No pathogenic copy number variants were identified in our local sample (n=10).ConclusionsThis study is the first of its kind to analyse the exomes of children with developmental disorders who were exposed to AEDs in utero. Though we acknowledge that the results are subject to bias, a significant number of children were identified with alternate diagnoses which had an impact on counselling and management. We suggest that consideration is given to performing whole exome sequencing as part of the diagnostic work-up for children exposed to AEDs in utero.

Incest: What do we Really Know about It?

1987 ◽  
Vol 21 (4) ◽  
pp. 430-440 ◽  
Author(s):  
R. Kosky
Keyword(s):  
Adverse Effects ◽  
Sexual Activity ◽  
Sexual Intercourse ◽  
Current Knowledge ◽  
Epidemiological Studies ◽  
Scientific Basis ◽  
Long Term Effects ◽  
Clinical Series ◽  
General Populations

The literature on incest is reviewed. Current knowledge rests on a very insecure scientific basis and has been mainly derived from small, highly selected clinical series. Recently, some important epidemiological studies of general populations have been reported, but the results of prevalence are inconsistent. Overall, however, it appears that incest, when defined in terms of sexual intercourse, occurs in less than 1% of the population, but other forms of intrafamilial sexual activity may affect 10% of females before they are 16 years of age. Some children are more at risk than others. Because information has generally been derived from court or treatment samples, we are unclear about the long-term effects of incest experiences but, overall, the impression is that incest has markedly adverse effects, especially if it is accompanied by violence and threats and is directed, as it usually is, at the young pre-pubescent child.

scholarly journals Environment, arbovirus transmission and control of epidemics

1992 ◽  
Vol 8 (3) ◽  
pp. 249-253 ◽  
Author(s):  
Roger Cordellier ◽  
Nicolas Degallier
Keyword(s):  
Yellow Fever Virus ◽  
Current Knowledge ◽  
Ground Level ◽  
Epidemiological Studies ◽  
Transmission Cycle ◽  
The People ◽  
Natural Foci ◽  
Effective Role ◽  
Control Of Epidemics ◽  
And Control

In order to illustrate the relationships between the biotopes (or phytogeographical zones), arbovirus vectors and vertebrate hosts (including man), and epidemiology, current knowledge on the transmission of Yellow Fever virus in West Africa is reported. A dynamic scheme has been devised to integrate the observed geographical distribution of cases and the timing of their occurrence. Two principal areas, endemicity and epidetnicity, were defined according to the presence or absence of sylvatic monkey-mosquito transmission. The intensity and potential of contacts between humans and vectors depends on the degree of man-made changes in the environment, often increasing the extension of ecotone areas where the mosquitoes are easily biting at the ground level. Prevention and/or control of arbovirus diseases require detailed eco-epidemiological studies to determine: (1) the effective role of each potential vector in each phytogeographical region; (2) the risk factors for the people living in or near areas with a sylvatic transmission cycle; (3) the priorities - vaccination and/or control - for preventing the expansion of natural foci.

scholarly journals Summary of Utah Project on Exfoliation Syndrome (UPEXS): using a large database to identify systemic comorbidities

2021 ◽  
Vol 6 (1) ◽  
pp. e000803
Author(s):  
Christian James Pompoco ◽  
Karen Curtin ◽  
Samuel Taylor ◽  
Chase Paulson ◽  
Caleb Shumway ◽  
...  
Keyword(s):  
Extracellular Matrix ◽  
Lysyl Oxidase ◽  
Genetic Disorders ◽  
Epidemiological Studies ◽  
Pelvic Organ ◽  
Chronic Obstructive ◽  
Exfoliation Syndrome ◽  
Population Database ◽  
Obstructive Sleep ◽  
Increased Risk

The purpose of the Utah Project on Exfoliation Syndrome (UPEXS) is to identify associations between exfoliation syndrome (XFS) and other diseases that share the commonality of abnormalities in elastin and Lysyl Oxidase-Like 1 gene regulation. The UPEXS is unique because it uses the Utah Population Database, which is linked to the Utah genealogy, that contains a compilation of large pedigrees of most families in the state of Utah that go back multiple generations (3 to ≥11). The health and medical records of these family members are linked to vital records and can be used effectively in studies focused on genetic disorders like XFS, where familial clustering of a disorder is a trend. There is increasing evidence that patients with XFS have a higher risk of certain systemic disorders that reflect the systemic tissue abnormalities of XFS. Epidemiological studies focused on patients with XFS have shown that there is an increased risk of these individuals developing other pathologies that have abnormalities in extracellular matrix metabolism and repair. UPEXS has focused on suspected comorbidities that involve abnormalities in elastin maintenance, a protein that plays a role in the makeup of the extracellular matrix. In this paper, the results from the analysis of chronic obstructive pulmonary disease, inguinal hernias, pelvic organ prolapse, obstructive sleep apnoea and atrial fibrillation are summarised along with the utility of using such a large dataset.

scholarly journals Copy number variant detection with low-coverage whole-genome sequencing is a viable replacement for the traditional array-CGH

2020 ◽  
Author(s):  
Marcel Kucharik ◽  
Jaroslav Budis ◽  
Michaela Hyblova ◽  
Gabriel Minarik ◽  
Tomas Szemes
Keyword(s):  
In Silico ◽  
Copy Number ◽  
Normal Population ◽  
Genetic Disorders ◽  
Prenatal Testing ◽  
In Silico Analysis ◽  
Copy Number Variant ◽  
Detection Algorithm ◽  
Copy Number Variations ◽  
Cnv Detection

Copy number variations (CNVs) are a type of structural variant involving alterations in the number of copies of specific regions of DNA, which can either be deleted or duplicated. CNVs contribute substantially to normal population variability; however, abnormal CNVs cause numerous genetic disorders. Nowadays, several methods for CNV detection are used, from the conventional cytogenetic analysis through microarray-based methods (aCGH) to next-generation sequencing (NGS). We present GenomeScreen - NGS based CNV detection method based on a previously described CNV detection algorithm used for non-invasive prenatal testing (NIPT). We determined theoretical limits of its accuracy and confirmed it with extensive in-silico study and already genotyped samples. Theoretically, at least 6M uniquely mapped reads are required to detect CNV with a length of 100 kilobases (kb) or more with high confidence (Z-score > 7). In practice, the in-silico analysis showed the requirement at least 8M to obtain >99% accuracy (for 100 kb deviations). We compared GenomeScreen with one of the currently used aCGH methods in diagnostic laboratories, which has a 200 kb mean resolution. GenomeScreen and aCGH both detected 59 deviations, GenomeScreen furthermore detected 134 other (usually) smaller variations. Furthermore, the overall cost per sample is about 2-3x lower in the case of GenomeScreen.

scholarly journals Etiology and Risk Factors for Rheumatoid Arthritis: A State-of-the-Art Review

2021 ◽  
Vol 8 ◽  
Author(s):  
Vasco C. Romão ◽  
João Eurico Fonseca
Keyword(s):  
Rheumatoid Arthritis ◽  
Risk Factors ◽  
Disease Risk ◽  
State Of The Art ◽  
Current Knowledge ◽  
Epidemiological Studies ◽  
Complex Interactions ◽  
Significant Burden ◽  
Risk Of Disease ◽  
Societal Level

Rheumatoid arthritis (RA) is the most common systemic inflammatory rheumatic disease. It is associated with significant burden at the patient and societal level. Extensive efforts have been devoted to identifying a potential cause for the development of RA. Epidemiological studies have thoroughly investigated the association of several factors with the risk and course of RA. Although a precise etiology remains elusive, the current understanding is that RA is a multifactorial disease, wherein complex interactions between host and environmental factors determine the overall risk of disease susceptibility, persistence and severity. Risk factors related to the host that have been associated with RA development may be divided into genetic; epigenetic; hormonal, reproductive and neuroendocrine; and comorbid host factors. In turn, environmental risk factors include smoking and other airborne exposures; microbiota and infectious agents; diet; and socioeconomic factors. In the present narrative review, aimed at clinicians and researchers in the field of RA, we provide a state-of-the-art overview of the current knowledge on this topic, focusing on recent progresses that have improved our comprehension of disease risk and development.

scholarly journals Early Airway Pathological Changes in Children: New Insights into the Natural History of Wheezing

2019 ◽  
Vol 8 (8) ◽  
pp. 1180 ◽  
Author(s):  
Matteo Bonato ◽  
Mariaenrica Tiné ◽  
Erica Bazzan ◽  
Davide Biondini ◽  
Marina Saetta ◽  
...  
Keyword(s):  
Natural History ◽  
Genetic Background ◽  
Current Knowledge ◽  
Persistent Asthma ◽  
Epidemiological Studies ◽  
Airflow Limitation ◽  
Clinical Expression ◽  
Heterogeneous Condition ◽  
History Of ◽  
Insight Into

Asthma is a heterogeneous condition characterized by reversible airflow limitation, with different phenotypes and clinical expressions. Although it is known that asthma is influenced by age, gender, genetic background, and environmental exposure, the natural history of the disease is still incompletely understood. Our current knowledge of the factors determining the evolution from wheezing in early childhood to persistent asthma later in life originates mainly from epidemiological studies. The underlying pathophysiological mechanisms are still poorly understood. The aim of this review is to converge epidemiological and pathological evidence early in the natural history of asthma to gain insight into the mechanisms of disease and their clinical expression.

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