Biomarkers in cardiorenal syndrome, a potential use in precision medicine.

Cardiorenal syndrome refers to the interrelated dysfunction of the heart or kidney resulting in a cascade of feedback mechanisms, hemodynamic, neurohormonal, and immunological and/or biochemical feedback pathways causing damage in the other organ. Cardiorenal syndrome is categorized into five clinical subtypes depending on the perceived primary precipitant of organ injury and is associated with high morbidity and mortality. Therefore, the development of tools for the earliest identification of cardiorenal syndrome in hospitalized patients is of extremely high significance to ameliorate the prognosis and outcome of these patients.

CHD2 pathogenic nonsense variant in a three-generation family with variable phenotype and a paracentric inversion 16: Case report.

Chromosomal inversions are usually balanced structural chromosomal rearrangements that do not have an impact on the clinical phenotype of a carrier. The main clinical consequence of inversions is the risk for unbalanced gametes and offspring with severe phenotypes. Rarely though, inversions are associated with a phenotype, mainly due to submicroscopic Copy Number Variants (CNVs) or disruption at the breakpoints of a functionally important gene and/or genomic elements.

Cerebrovascular Manifestations of SARS-CoV-2: A Comprehensive Review.

Purpose Of Review: The risks of cerebrovascular manifestations due to SARS-CoV-2 infection are significantly increased within the first 6 months of the infection. Our work aims to give an update on current clinical aspects of diagnosis and treatment of cerebrovascular manifestations during acute and long-term SARS-CoV-2 infection.

Recent Findings: The incidence of acute ischemic stroke and haemorrhagic stroke during acute SARS-CoV-2 patients is estimated at 0.

Triangles and Family Engagement in Drug and Alcohol Addiction Treatment.

Despite the large number of studies that demonstrate the need for family involvement in addiction treatment, mental health professionals (MHPs) are often reluctant to collaborate with the affected family members (AFMs), while several times they enter-consciously or unconsciously-into a competitive relationship with the family of the person with addiction problems (PAPs). The present study presents the results of a thematic analysis of 42 vignettes provided by MHPs working in drug and alcohol addiction treatment. Participants' experiences were depicted by two overarching themes: the caring and the traumatizing triangle.

Nurses' Experiences of Psychiatric Care in Acute Care Units with an Open Door Policy.

Social distancing and the recent lock down due to COVID-19 has increased the feeling of disconnection, isolation, and suffering in vulnerable individuals and has brought forward questions regarding open acute care psychiatric units that cannot be answered by the literature. In Greece, there is no available research on how open ward environments are perceived and experienced by mental health professionals. The aim of the present study was to illuminate nurses' experiences of working in a public psychiatric hospital which traditionally operates with open doors.

Psychiatric Care in Acute Care Units with Locked Doors: Nursing Care Providers' Perceptions and Experiences.

Social distancing and the recent lockdown due to COVID-19 have increased the feeling of disconnection, isolation, and suffering in vulnerable individuals and have brought forward questions regarding locked acute care psychiatric units that cannot be answered by the literature. In Greece, there is no available research on how locked ward environments are perceived and experienced by mental health professionals. The aim of the present study is to illuminate nursing care providers' perceptions of psychiatric care in units with locked doors.

Reliability and Validity of the Greek Version of the Professional Quality of Life Scale (ProQOL-V).

Background: Compassion constitutes a central element of all health and social care professions. The Professional Quality of Life Questionnaire is the most widely used instrument to measure compassion fatigue worldwide.

Objective: The aim of this study was to provide evidence for the reliability and the validity of ProQOL-V for Greece.

Wounded healers during the COVID-19 syndemic: Compassion fatigue and compassion satisfaction among nursing care providers in Greece.

Purpose: The aim of this study was to investigate compassion fatigue (CF) and compassion satisfaction (CS) in nursing care providers in COVID-19 units.

Methods: A mixed-method study with 105 nurses.

Results: 23% of participants reported high CF risk while 77% expressed high to moderate potential for CS.

Low-Level Trisomy 14 Mosaicism: A Carrier of an Isochromosome 14 and a Supernumerary Marker Chromosome 14.

Trisomy 14 (T14) mosaicism is a rare chromosomal condition characterised by various clinical features, including developmental delay, growth impairment, and dysmorphism. Here, we report on a 12-year-old female referred for cytogenetic analysis due to short stature. Standard GTG-banding analysis on the patient's peripheral blood revealed mosaic Τ14 in the form of an i(14)(q10) in 3% of cells.

Complex small supernumerary marker chromosomes - an update.

Background: Complex small supernumerary marker chromosomes (sSMC) constitute one of the smallest subgroups of sSMC in general. Complex sSMC consist of chromosomal material derived from more than one chromosome; the best known representative of this group is the derivative chromosome 22 {der(22)t(11;22)} or Emanuel syndrome. In 2008 we speculated that complex sSMC could be part of an underestimated entity.

The strength of combined cytogenetic and mate-pair sequencing techniques illustrated by a germline chromothripsis rearrangement involving FOXP2.

Next-generation mate-pair sequencing (MPS) has revealed that many constitutional complex chromosomal rearrangements (CCRs) are associated with local shattering of chromosomal regions (chromothripsis). Although MPS promises to identify the molecular basis of the abnormal phenotypes associated with many CCRs, none of the reported mate-pair sequenced complex rearrangements have been simultaneously studied with state-of-the art molecular cytogenetic techniques. Here, we studied chromothripsis-associated CCR involving chromosomes 2, 5 and 7, associated with global developmental and psychomotor delay and severe speech disorder.

45,X/46,XY mosaicism: a cause of short stature in males.

45,X/46,XY mosaicism is associated with a broad spectrum of phenotypes ranging from apparently normal male development to individuals with incomplete sexual differentiation and clinical signs of Turner syndrome in both males and females. The most common presentation among individuals with a 45,X/46,XY karyotype is sexual ambiguity, accounting for approximately 60% of cases, while the least common category of 45,X/46,XY patients consists of those with bilaterally descended testes, found in 11-12%. We report on two patients with an apparently normal male phenotype and 45,X/46,XY mosaicism who were diagnosed postnatally because of short stature.

Prokaryotic community structure and diversity in the sediments of an active submarine mud volcano (Kazan mud volcano, East Mediterranean Sea).

We investigated 16S rRNA gene diversity at a high sediment depth resolution (every 5 cm, top 30 cm) in an active site of the Kazan mud volcano, East Mediterranean Sea. A total of 242 archaeal and 374 bacterial clones were analysed, which were attributed to 38 and 205 unique phylotypes, respectively (> or = 98% similarity). Most of the archaeal phylotypes were related to ANME-1, -2 and -3 members originating from habitats where anaerobic oxidation of methane (AOM) occurs, although they occurred in sediment layers with no apparent AOM (below the sulphate depletion depth).

Mixed gonadal dysgenesis in a 45,X neonate with chromosome Y material in the dysgenetic gonad.

We report on a neonate with a disorder of sex development, Prader 3-4 external genitalia and a palpable structure in the right inguinal canal suggestive of gonadal tissue. Chromosome studies on blood lymphocytes showed monosomy of chromosome X. Laparoscopy identified a streak-like gonad on the left side, unicorn uterus and a dysgenetic testis on the right, attached to a Fallopian tube.

Atypical antipsychotics in the treatment of delirium.

Delirium is common in all medical settings. Atypical antipsychotics are increasingly used for the management of delirium symptomatology but their effectiveness has not been systematically studied. The aim of the present study was therefore to provide an up-to-date review on the use of atypical antipsychotics in the treatment of delirium.

Admission rates of patients with borderline personality disorder in a psychiatric unit in a General Hospital.

This study examined the admission rates of patients with borderline personality disorder in a psychiatric unit within a General Hospital. The medical records of patients with DSM-IV borderline personality disorder who were admitted to the unit during the years 2004 and 2005 were retrospectively reviewed. The number of admissions of patients with borderline personality disorder was 78, involving 48 patients.

Cryptic mosaicism for monosomy 20 identified in renal tract cells.

We report a post-natal case of mosaic aneuploidy for chromosome 20 in a 4 months old male baby with an abnormal phenotype including dysmorphic features (asymmetric facial growth), ventricular septal defect, hypotonia and bilateral vesicoureteric reflux. Conventional cytogenetics on peripheral blood showed 1 cell of 200 with 47,XY,+20. Further investigations using fluorescent in situ hybridization (FISH) on a urine sample, with a centromere probe for chromosome 20, revealed 39 of 50 cells giving one signal indicative of monosomy 20.

A chromosome 21-derived minute marker in a mosaic trisomy 21 background: implications for risk assessments in marker chromosome cases.

We report a prenatal case of a chromosome 21-derived minute supernumerary marker, found as a mosaic along with a trisomy 21 cell line at amniocentesis. Follow-up analysis of other fetal tissues confirmed the mosaicism and also disclosed a normal cell line. It is likely that the marker reflects a mutation event that resulted in trisomy rescue early in embryonic development.

Prenatal diagnosis of cri du chat (5p-) syndrome in association with isolated moderate bilateral ventriculomegaly.

A case of prenatally detected cri du chat syndrome (5p-) is reported. Amniocentesis was performed following an abnormal ultrasound finding of isolated moderate bilateral ventriculomegaly. The karyotype showed a terminal deletion of the short arm of chromosome 5 including the critical region 5p15 for cri du chat syndrome.

Quick regiospecific analysis of fatty acids in triacylglycerols with GC using 1,3-specific lipase in butanol.

A new micro-procedure for the quick regiospecific analysis of triacylglycerols (TAG) with a 1,3-specific lipase, Lipozyme IM 20 (produced from strains of Muccor miehei) is described. After dissolution of triacylglycerols in butan-1-ol or butan-2-ol 250 mg of Lipozyme IM 20 were added and the whole mixture was agitated. This operation was repeated 5-10 times and the esterified fatty acids in the form of butyl esters (FABE) were dissolved in pentane and washed with water.