Miroslav Mayer
A5032586105- Systemic Lupus Erythematosus Research
- Systemic Sclerosis and Related Diseases
- Rheumatoid Arthritis Research and Therapies
- Genetics and Neurodevelopmental Disorders
- Inflammatory Myopathies and Dermatomyositis
- Autoimmune and Inflammatory Disorders Research
- Salivary Gland Disorders and Functions
- Genomic variations and chromosomal abnormalities
- Osteomyelitis and Bone Disorders Research
- Sarcoidosis and Beryllium Toxicity Research
- Adolescent and Pediatric Healthcare
- Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
- Spondyloarthritis Studies and Treatments
- Skin Diseases and Diabetes
- Education, Psychology, and Social Research
- Musculoskeletal Disorders and Rehabilitation
- Dermatologic Treatments and Research
- Monoclonal and Polyclonal Antibodies Research
- Psoriasis: Treatment and Pathogenesis
- Atherosclerosis and Cardiovascular Diseases
- Chromosomal and Genetic Variations
- Vasculitis and related conditions
- Peripheral Neuropathies and Disorders
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Microbial infections and disease research
University Hospital Centre Zagreb
2014-2024
Hospital Británico de Buenos Aires
2014-2024
Universität Ulm
2015-2024
University of Zagreb
2011-2023
Nelson Mandela Academic Hospital
2022
Walter Sisulu University
2022
Kafkas University
2022
Atatürk University
2022
Bursa Uludağ Üni̇versi̇tesi̇
2022
University of Veterinary Medicine
2022
Seven families with X-linked mental retardation (MR) have been studied clinically and cytogenetically. All affected males in six of the were found to a fragile site on Xq number their peripheral lymphocytes. The was not seen any seventh family. X had syndrome characterized by variable degree MR, macro-orchidism, characteristic repetitive, jocular speech, normal body proportions, large jaws ears. chromosome could only be detected proportion female carriers its frequency females correlated...
A cytogenetic survey of 475 patients in an institution for the mentally retarded is reported. The chromosomes all were studied using both a non‐banding and G‐banding technique order to estimate relative efficiency two techniques detecting structural rearrangements chromosomes. total 57 was found have chromosome abnormality, including five with balanced rearrangement. contribution aberrations etiology mental retardation discussed special emphasis on rearrangements.
To evaluate the use of hydroxychloroquine (HCQ) and its impact on Health Assessment Questionnaire disability index(HAQ-DI) Cochin Hand Function Status(CHFS) in a large Systemic Sclerosis (SSc) cohort. SSc patients from European Scleroderma Trials Research (EUSTAR) database treated with HCQ for at least 6 months were evaluated compared to matched group not using HCQ. Demographic clinical data, concomitant drugs, HAQ-DI CHFS (at 2 evaluations) recorded outcome variables interest. Statistical...
It has been known for some time that there is an association between chronological aging and X-chromosome aneuploidy in peripheral blood lymphocyte cultures from females. In attempt to elucidate the mechanism of females, we used a BrdU late-labeling technique determine X-inactivation pattern 45, X 47, XXX lymphocytes older women. 50 58 X-aneuploid cells inactive chromosome was missing or extra. This implies either special propensity mitotic errors occur at random but subsequent selection...
We report an oriental family with sex-linked mental retardation, macroorchidism, and a marker or fragile site on the X chromosome--mar(X)(q28). The three affected males resemble clinically most previously reported Caucasians. was present in four female 40-70 years old, including one normal intelligence. Transmission of disorder appears to have taken place through male his grandson.
Systemic sclerosis (SSc) sine scleroderma (ssSSc) is a subset of SSc defined by the absence skin fibrosis. Little known about natural history and manifestations among patients with ssSSc.
SUMMARY The origin of the additional chromosome was studied in 45 trisomic‐21 Down‐syndrome patients. In 17 patients maternal, 2 it paternal and remaining 26 parental could not be determined. Acrocentric association parents offspring spontaneous abortions that were trisomic for an acrocentric chromosome. Parents 16 abortuses triploid chromosomally normal used as controls. No increased index found specific involved trisomy, either liveborn or aborted trisomies. However, overall parent whom...
During retroviral infection, viral capsids are subject to restriction by the cellular factor TRIM5α. Here, we show that dendritic cells (DCs) derived from human and non-human primate species lack efficient TRIM5α-mediated restriction. In DCs, endogenous TRIM5α accumulates in nuclear bodies (NB) partly co-localize with Cajal a SUMOylation-dependent manner. Nuclear sequestration of allowed potent induction type I interferon (IFN) responses during mediated sensing reverse transcribed DNA cGAS....
Systemic sclerosis (SSc) is a chronic, autoimmune connective tissue disease associated with high morbidity and mortality, especially in diffuse cutaneous SSc (dcSSc). Currently, there are several treatments available early dcSSc that aim to change the course, including immunosuppressive agents autologous haematopoietic stem cell transplantation (HSCT). HSCT has been adopted international guidelines offered current clinical care. However, optimal timing patient selection for still unclear. In...
Abstract Objectives The prevalence and characteristics of SSc-associated interstitial lung disease (SSc-ILD) vary between geographical regions worldwide. objectives this study were to explore the differences in terms prevalence, phenotype, treatment prognosis patients with SSc-ILD from predetermined EUSTAR database. Material methods Patients clustered into seven regions. Clinical survival compared among these pre-determined Results For baseline analyses, 9260 SSc included, 6732 for analyses....
Abstract Objective Interstitial lung disease (ILD) is the leading cause of morbidity and mortality in systemic sclerosis (SSc) patients. We aimed to investigate impact sex on SSc-ILD. Methods EUSTAR SSc patients with radiologically confirmed ILD available percentage predicted forced vital capacity (%pFVC) were included. Demographics features recorded. A change %pFVC over 12 months (s.d. 6) (cohort 1) was classified into stable (≤4%), mild (5–9%) large progression (≥10%). In those 2-year...
The International Consensus on Antinuclear Antibody (ANA) Patterns (ICAP) has recently proposed nomenclature in order to harmonize ANA indirect immunofluorescence (IIF) pattern reporting. ICAP distinguishes competent-level from expert-level patterns. A survey was organized evaluate reporting, familiarity, and considered clinical value of IIF patterns.Two surveys were distributed by European Autoimmunity Standardization Initiative (EASI) working groups, the UK NEQAS laboratory professionals...