Genetic Features of Alport�s Syndrome

Background: Our laboratory recently confronted this issue while conducting research with undergraduate students at the University of Waterloo (UW). Although our main objective was to examine cognitive and genetic features of individuals with schizotypal personality disorder (SPD), the study protocol also entailed the completion of various self-report measures to identify participants deemed at increased risk for suicide. Aims and Methods: This paper seeks to review and discuss the relevant ethical guidelines and legislation that bear upon a psychologist’s obligation to further assess and intervene when research participants reveal that they are at increased risk for suicide. Results and Conclusions: In the current paper we argue that psychologists are ethically impelled to assess and appropriately intervene in cases of suicide risk, even when such risk is revealed within a research context. We also discuss how any such obligation may potentially be modulated by the research participant’s expectations of the role of a psychologist, within such a context. Although the focus of the current paper is on the ethical obligations of psychologists, specifically those practicing within Canada, the relevance of this paper extends to all regulated health professionals conducting research in nonclinical settings.

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WNT Medulloblastoma: More than just β-Catenin Mutations – Rare Genetic Features in the Focus

10.1055/s-0039-1687126 ◽

2019 ◽

Author(s):

T Goschzik ◽

E Dörner ◽

A zur Mühlen ◽

T Pietsch

Keyword(s):

Genetic Features

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PALEOLAKE BASINS OF THE GREAT CAUCASUS AND NEPALESE HIMALAIAS: DISTRIBUTION AND GENETIC FEATURES

Geomorphology RAS ◽

10.15356/0435-4281-2005-1-8-18 ◽

2015 ◽

pp. 8

Author(s):

Yu. V. Yefremov ◽

D. S. Salpagarov ◽

A. V. Zimnitsky

Keyword(s):

Genetic Features

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Comparative clinical and moleculare-genetic features adenomyose and endometrioma

HEALTH OF WOMAN ◽

10.15574/hw.2016.110.118 ◽

2016 ◽

pp. 118-120

Author(s):

P.M. Prudnikov ◽

Keyword(s):

Genetic Features

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Identification of KRAS G12V associated clonal neoantigens and immune microenvironment in long-term survival of pancreatic adenocarcinoma

Cancer Immunology Immunotherapy ◽

10.1007/s00262-021-03012-4 ◽

2021 ◽

Author(s):

Chao Wang ◽

Min Shi ◽

Lei Zhang ◽

Jun Ji ◽

Ruyan Xie ◽

...

Keyword(s):

Pancreatic Adenocarcinoma ◽

Genomic Analysis ◽

Molecular Characteristics ◽

Immune Microenvironment ◽

Term Survival ◽

Long Term Survival ◽

Tumor Immune Microenvironment ◽

Genetic Features ◽

Multiple Recurrences

Abstract Objective To investigate the molecular characteristics in tumor immune microenvironment that affect long-term survival of patients with pancreatic adenocarcinoma (PAAD). Methods The tumor related genetic features of a female PAAD patient (over 13-year survival) who suffered from multiple recurrences and metastases, and six operations over one decade were investigated deeply. Genomic features and immune microenvironment signatures of her primary lesion as well as six metastatic tumors at different time-points were characterized. Results High-frequency clonal neoantigenic mutations identified in these specimens revealed the significant associations between clonal neoantigens with her prognosis after each surgery. Meanwhile, the TCGA and ICGC databases were employed to analyse the function of KRAS G12V in pancreatic cancer. Conclusions The genomic analysis of clonal neoantigens combined with tumor immune microenvironment could promote the understandings of personalized prognostic evaluation and the stratification of resected PAAD individuals with better outcome.

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Mechanisms of Neurodegeneration in Various Forms of Parkinsonism—Similarities and Differences

Cells ◽

10.3390/cells10030656 ◽

2021 ◽

Vol 10 (3) ◽

pp. 656

Author(s):

Dariusz Koziorowski ◽

Monika Figura ◽

Łukasz M. Milanowski ◽

Stanisław Szlufik ◽

Piotr Alster ◽

...

Keyword(s):

Neurodegenerative Diseases ◽

Tau Protein ◽

Protein Gene ◽

Clinical Presentation ◽

Neuronal Loss ◽

Corticobasal Degeneration ◽

Inflammatory Factors ◽

Parkinsonian Disorders ◽

Genetic Features ◽

The Brain

Parkinson's disease (PD), dementia with Lewy body (DLB), progressive supranuclear palsy (PSP), corticobasal degeneration (CBD) and multiple system atrophy (MSA) belong to a group of neurodegenerative diseases called parkinsonian syndromes. They share several clinical, neuropathological and genetic features. Neurodegenerative diseases are characterized by the progressive dysfunction of specific populations of neurons, determining clinical presentation. Neuronal loss is associated with extra- and intracellular accumulation of misfolded proteins. The parkinsonian diseases affect distinct areas of the brain. PD and MSA belong to a group of synucleinopathies that are characterized by the presence of fibrillary aggregates of α-synuclein protein in the cytoplasm of selected populations of neurons and glial cells. PSP is a tauopathy associated with the pathological aggregation of the microtubule associated tau protein. Although PD is common in the world's aging population and has been extensively studied, the exact mechanisms of the neurodegeneration are still not fully understood. Growing evidence indicates that parkinsonian disorders to some extent share a genetic background, with two key components identified so far: the microtubule associated tau protein gene (MAPT) and the α-synuclein gene (SNCA). The main pathways of parkinsonian neurodegeneration described in the literature are the protein and mitochondrial pathways. The factors that lead to neurodegeneration are primarily environmental toxins, inflammatory factors, oxidative stress and traumatic brain injury.

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Retrospective evaluation of 85 patients with urea cycle disorders: one center experience, three new mutations

Journal of Pediatric Endocrinology and Metabolism ◽

10.1515/jpem-2019-0413 ◽

2020 ◽

Vol 33 (6) ◽

pp. 721-728

Author(s):

Özlem Saritaş Nakip ◽

Yılmaz Yıldız ◽

Ayşegül Tokatlı

Keyword(s):

Mortality Rate ◽

Urea Cycle ◽

Laboratory Data ◽

Patient Characteristics ◽

Hereditary Diseases ◽

Urea Cycle Disorders ◽

Carbamoyl Phosphate ◽

Term Survival ◽

Genetic Features ◽

Cycle Disorders

AbstractObjectivesUrea cycle disorders (UCDs) are rare hereditary diseases. This study was conducted to help identify the characteristics of UCDs in Turkey.MethodsThe primary outcome was to determine patient characteristics. Investigating the relationships between the patient outcomes and ammonia levels were the secondary outcomes. Eighty five patients from 79 families, diagnosed with UCD at a single metabolic referral center between 1979 and 2017, were included. Clinical and laboratory data were retrieved retrospectively from hospital records.ResultsClassical citrullinemia was the most common type of UCD; citrin deficiency and carbamoyl phosphate synthase 1 deficiency (CPS1D) were the rarest. One thirty one hyperammonemic episodes were recorded. The peak ammonia levels were found to be significantly associated with polycythemia and hypocalcemia at presentation. The median peak ammonia values of the patients who died were higher than those of the survivors. The highest mortality rate was in the classical citrullinemia group. The mortality rate of the first hyperammonemic crisis was 28.6%, while it was 6.7% in subsequent episodes with an odds ratio of 4.28 (95% CI: 1.67–11.0) (p=0.001). Forty-four patients underwent genetic analysis and genetic variants were detected in 42 patients (95%). Three of the detected variants have not been previously reported.ConclusionsThis is the largest UCD series in Turkey and may serve as a guide to clinical, biochemical and genetic features of UCDs in our country. Prevention of hyperammonemia may be the most influential measure to improve long term survival.

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Poorly Differentiated and Anaplastic Thyroid Cancer: Insights into Genomics, Microenvironment and New Drugs

Cancers ◽

10.3390/cancers13133200 ◽

2021 ◽

Vol 13 (13) ◽

pp. 3200

Author(s):

Alessandro Prete ◽

Antonio Matrone ◽

Carla Gambale ◽

Liborio Torregrossa ◽

Elisa Minaldi ◽

...

Keyword(s):

Overall Survival ◽

Thyroid Cancer ◽

Median Overall Survival ◽

Clinical Problem ◽

Anaplastic Thyroid Cancer ◽

New Drugs ◽

Poor Survival ◽

Tumor Microenvironments ◽

Genetic Features ◽

Poorly Differentiated

PDTC and ATC present median overall survival of 6 years and 6 months, respectively. In spite of their rarity, patients with PDTC and ATC represent a significant clinical problem, because of their poor survival and the substantial inefficacy of classical therapies. We reviewed the newest findings about genetic features of PDTC and ATC, from mutations occurring in DNA to alterations in RNA. Therefore, we describe their tumor microenvironments (both immune and not-immune) and the interactions between tumor and neighboring cells. Finally, we recapitulate how this upcoming evidence are changing the treatment of PDTC and ATC.

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