RESOLUTION OF CALVARIAL HYPEROSTOSIS IN AFRICAN LION CUBS () AFTER VITAMIN A SUPPLEMENTATION.

Two female (FL 1, FL 2) and one male (ML) 11-wk-old, intact, captive African lion cubs () were presented with a history of mild vestibular signs. Initial serum vitamin A concentrations were low (140 nmol/L) for ML. Calvarial hyperostosis was confirmed using computed tomography (CT) of the head and cervical vertebrae in each cub.

The improvement of motor symptoms in Huntington's disease during cariprazine treatment.

Background: Huntington's disease (HD) is a progressive neurodegenerative disease, characterised by motor disturbances and non-motor (i.e., psychiatric) symptoms.

[Sharing sensitive research data in the practice of personalised medicine].

Fragmentation of health data and biomedical research data is a major obstacle for precision medicine based on data-driven decisions. The development of personalized medicine requires the efficient exploitation of health data resources that are extraordinary in size and complexity, but highly fragmented, as well as technologies that enable data sharing across institutions and even borders. Biobanks are both sample archives and data integration centers.

First Report of Skunk Amdoparvovirus (Species ) in Europe in a Captive Striped Skunk ().

Skunk amdoparvovirus (, SKAV) is closely related to Aleutian mink disease virus (AMDV) and circulates primarily in striped skunks () in North America. SKAV poses a threat to mustelid species due to reported isolated infections of captive American mink () in British Columbia, Canada. We detected SKAV in a captive striped skunk in a German zoo by metagenomic sequencing.

Case Report: Unable to Jump Like a Kangaroo Due to Myositis Ossificans Circumscripta.

A male 10-year-old captive red kangaroo () was presented with a chronic progressive pelvic limb lameness and reluctance to jump. The general examination revealed a palpable induration of the lumbar epaxial muscles. Magnetic resonance imaging performed under general anesthesia revealed bilateral almost symmetric, well-circumscribed mass lesions in superficial erector spinae muscles.

Genetic landscape of early-onset dementia in Hungary.

Introduction: Early-onset dementias (EOD) are predominantly genetically determined, but the underlying disease-causing alterations are often unknown. The most frequent forms of EODs are early-onset Alzheimer's disease (EOAD) and frontotemporal dementia (FTD).

Patients: This study included 120 Hungarian patients with EOD (48 familial and 72 sporadic) which had a diagnosis of EOAD (n = 49), FTD (n = 49), or atypical dementia (n = 22).

Tribological Properties and 3D Topographic Parameters of Hard Turned and Ground Surfaces.

Precision machining of automotive industrial parts is a highlighted topic in mechanical engineering due to the increased need for efficient and high-quality machining processes. This study is aimed to contribute to the field of surface topography evaluation by analyzing tribology-related topography parameters parallelly and finding connections between them. Hard machining experiments were carried out for the widely applied case-hardened material 16MnCr5 and the 3D topography of the machined surfaces was measured and analyzed.

Improving Mood and Cognitive Symptoms in Huntington's Disease With Cariprazine Treatment.

In Huntington's disease (HD), the main clinical symptoms include depression, apathy, cognitive deficits, motor deficiencies and involuntary movements. Cognitive, mood and behavioral changes may precede motor symptoms by up to 15 years. The treatment of these diverse symptoms is challenging.

[Hungarian Genomic Data Warehouse supporting the healthy ageing research].

Összefoglaló. A fejlett társadalmak egészségügyi rendszereinek legnagyobb kihívását az öregedéssel összefüggő, korfüggő betegségek jelentik. Annak megértéséhez, hogy az egyes genetikai variánsoknak mi a szerepük egy korfüggő betegség kialakulásában, meg kell ismerkednünk magával az öregedési folyamattal, az egészséges hosszú élettel asszociált, valamint az adott populációra jellegzetes variánsokkal is.

[The importance of patient reported outcome measures in Pompe disease].

Background And Purpose: In recent decades it has become increasingly important to involve patients in their diagnostic and treatment process to improve treatment outcomes and optimize compliance. By their involvement, patients can become active participants in therapeutic developments and their observations can be utilized in determining the unmet needs and priorities in clinical research. This is especially true in rare diseases such as Pompe disease.

The plate body: 3D ultrastructure of a facultative organelle of alveolar epithelial type II cells involved in SP-A trafficking.

Plate bodies are facultative organelles occasionally described in the adult lungs of various species, including sheep and goat. They consist of multiple layers of plate-like cisterns with an electron dense middle bar. The present study was performed to elucidate the three-dimensional (3D) characteristics of this organelle and its presumed function in surfactant protein A (SP-A) biology.

Corrigendum: Investigation of the Possible Role of Tie2 Pathway and Gene in Asthma and Allergic Conjunctivitis.

[This corrects the article DOI: 10.3389/fgene.2020.

[Hereditary Parkinson’s disease as a new clinical manifestation of the damaged POLG gene].

The protein product of the nuclear-encoded POLG gene plays a key role in the maintenance of mitochondrial DNA replication, and its failure causes multi-system diseases with varying severity. The clinical spectrum is extremely wide, and the most common symptoms include ptosis, myoclonus, epilepsy, myopathy, sensory ataxia, parkinsonism, cognitive decline and infertility. Now, it is known that mitochondrial dysfunction in Parkinson's disease plays a key role in the loss of dopaminergic neurons in the substantia nigra.

Melanoma-associated fibroblasts impair CD8+ T cell function and modify expression of immune checkpoint regulators via increased arginase activity.

This study shows that melanoma-associated fibroblasts (MAFs) suppress cytotoxic T lymphocyte (CTL) activity and reveals a pivotal role played by arginase in this phenomenon. MAFs and normal dermal fibroblasts (DFs) were isolated from surgically resected melanomas and identified as Melan-A-/gp100-/FAP+ cells. CTLs of healthy blood donors were activated in the presence of MAF- and DF-conditioned media (CM).

Investigation of the Possible Role of Tie2 Pathway and Gene in Asthma and Allergic Conjunctivitis.

Tie2, coded by the gene, is a tyrosine kinase receptor and plays a central role in vascular stability. It was suggested that variations in the gene might influence the susceptibility to asthma and allergic conjunctivitis. The aim of this study was to further investigate these suggestions, involving different populations and to study the Tie2 related pathway on a mouse model of asthma.

The Role of Genetic Testing in the Clinical Practice and Research of Early-Onset Parkinsonian Disorders in a Hungarian Cohort: Increasing Challenge in Genetic Counselling, Improving Chances in Stratification for Clinical Trials.

The genetic analysis of early-onset Parkinsonian disorder (EOPD) is part of the clinical diagnostics. Several genes have been implicated in the genetic background of Parkinsonism, which is clinically indistinguishable from idiopathic Parkinson's disease. The identification of patient's genotype could support clinical decision-making process and also track and analyse outcomes in a comprehensive fashion.

Dynamic interaction of genetic risk factors and cocaine abuse in the background of Parkinsonism - a case report.

Background: Parkinsonism is a complex multifactorial neurodegenerative disorder, in which genetic and environmental risk factors may both play a role. Among environmental risk factors cocaine was earlier ambiguously linked to Parkinsonism. Former single case reports described Parkinsonism in chronic cocaine users, but an epidemiological study did not confirm an increased risk of Parkinson's disease.

Comprehensive Analysis of Rare Variants of 101 Autism-Linked Genes in a Hungarian Cohort of Autism Spectrum Disorder Patients.

Background: Autism spectrum disorder (ASD) is genetically and phenotypically heterogeneous. Former genetic studies suggested that both common and rare genetic variants play a role in the etiology. In this study, we aimed to analyze rare variants detected by next generation sequencing (NGS) in an autism cohort from Hungary.

Intervertebral disc herniation in two coatis (Nasua nasua) and postoperative laminectomy membrane formation.

Magnetic resonance imaging revealed spinal cord compression due to intervertebral disc herniation of Hansen type I and II in the thoracolumbar vertebral column in two middle-aged coatis () with chronic progressive paraparesis. Surgical treatment included hemilaminectomy and partial corpectomy in one and dorsal laminectomy in the other coati. Both coatis recovered well after surgery.

NKX2-1 New Mutation Associated With Myoclonus, Dystonia, and Pituitary Involvement.

related disorders (also known as brain-lung-thyroid syndrome or benign hereditary chorea 1) are associated with a wide spectrum of symptoms. The core features are various movement disorders, characteristically chorea, less frequently myoclonus, dystonia, ataxia; thyroid disease; and lung involvement. The full triad is present in 50% of affected individuals.

Orthologous proteins of experimental de- and remyelination are differentially regulated in the CSF proteome of multiple sclerosis subtypes.

Objective: Here, we applied a multi-omics approach (i) to examine molecular pathways related to de- and remyelination in multiple sclerosis (MS) lesions; and (ii) to translate these findings to the CSF proteome in order to identify molecules that are differentially expressed among MS subtypes.

Methods: To relate differentially expressed genes in MS lesions to de- and remyelination, we compared transcriptome of MS lesions to transcriptome of cuprizone (CPZ)-induced de- and remyelination. Protein products of the overlapping orthologous genes were measured within the CSF by quantitative proteomics, parallel reaction monitoring (PRM).

Experimental Demyelination and Axonal Loss Are Reduced in MicroRNA-146a Deficient Mice.

Background: The cuprizone (CPZ) model of multiple sclerosis (MS) was used to identify microRNAs (miRNAs) related to de- and remyelination. We further investigated the role of miR-146a in miR-146a-deficient (KO) mice: this miRNA is differentially expressed in MS lesions and promotes differentiation of oligodendrocyte precursor cells (OPCs) during remyelination, but its role has not been examined during demyelination.

Methods: MicroRNAs were examined by Agilent Mouse miRNA Microarray in the corpus callosum during CPZ-induced demyelination and remyelination.

DNA of free-living bodonids (Euglenozoa: Kinetoplastea) in bat ectoparasites: potential relevance to the evolution of parasitic trypanosomatids.

Kinetoplastids are flagellated protozoa, including principally free-living bodonids and exclusively parasitic trypanosomatids. In the most species-rich genus, Trypanosoma, more than thirty species were found to infect bats worldwide. Bat trypanosomes are also known to have played a significant role in the evolution of T.

From genomes to diaries: a 3-year prospective, real-life study of ragweed-specific sublingual immunotherapy.

During the last decades, the prevalence of allergy has dramatically increased. Allergen-specific immunotherapy is the only currently available medical intervention that has the potential to affect the natural course of the disease, but there are still many questions and unmet needs hindering its widespread use to fulfill its treatment potential and maximize its benefits for the society. To provide a comprehensive phenome-wide overview in sublingual immunotherapy, using ragweed allergy as a target, we planned and carried out a longitudinal, prospective, observational, open-label study (DesensIT).