A5102816628- Genomic variations and chromosomal abnormalities
- Prenatal Screening and Diagnostics
- Malaria Research and Control
- Fetal and Pediatric Neurological Disorders
- MicroRNA in disease regulation
- Health and Medical Studies
- Neurology and Historical Studies
- Maternal Mental Health During Pregnancy and Postpartum
- Ethics and Legal Issues in Pediatric Healthcare
- Multiple Sclerosis Research Studies
- Genomics and Rare Diseases
- BRCA gene mutations in cancer
- RNA regulation and disease
- Psychosomatic Disorders and Their Treatments
- Cancer Genomics and Diagnostics
- Pregnancy and Medication Impact
- Infectious Encephalopathies and Encephalitis
- Neurogenetic and Muscular Disorders Research
- Epilepsy research and treatment
- Entomological Studies and Ecology
- Psychiatric care and mental health services
- Circadian rhythm and melatonin
- Muscle Physiology and Disorders
- Cardiomyopathy and Myosin Studies
- Hearing, Cochlea, Tinnitus, Genetics
Ljubljana University Medical Centre
2011-2023
University of Ljubljana
2015-2023
University Medical Center
2023
Inštitut Bion
2010
Heidelberg University
1990
Cossham Hospital
1950
Bristol Hospital
1948
Brentwood Hospital
1934
Thornbury Hospital
1925-1926
Intercountry comparability between studies on medication use in pregnancy is difficult due to dissimilarities study design and methodology. This aimed examine patterns factors associated with medications from a multinational perspective, emphasis type of utilised indication for use.Cross-sectional, web-based performed within the period 1 October 2011 29 February 2012. Uniform collection drug utilisation data was via an anonymous online questionnaire.Multinational Europe (Western, Northern...
PurposePhenotype information is crucial for the interpretation of genomic variants. So far it has only been accessible bioinformatics workflows after encoding into clinical terms by expert dysmorphologists.MethodsHere, we introduce an approach driven artificial intelligence that uses portrait photographs exome data. We measured value added computer-assisted image analysis to diagnostic yield on a cohort consisting 679 individuals with 105 different monogenic disorders. For each case in...
The genetic etiology and the contribution of rare variation in multiple sclerosis (MS) has not yet been elucidated. Although familial forms MS have described, no convincing penetrant variants reported to date. We aimed characterize sporadic identified a family with two sibs affected by concomitant malignant melanoma (MM). performed whole exome sequencing this primary 38 multiplex families 44 cases transcriptional immunologic assessment variants. potentially causative homozygous missense...
Background No previous studies have explored how closely women follow their psychotropic drug regimens during pregnancy. This study aimed to explore patterns of and factors associated with low adherence medication Methods Multinational web-based was performed in 18 countries Europe, North America, Australia. Uniform data collection ensured via an electronic questionnaire. Pregnant were eligible participate. Adherence measured the 8-item Morisky Medication Scale (MMAS-8). The Beliefs about...
Prevalence of multiple sclerosis varies with geographic latitude. We hypothesized that this fact might be partially associated the influence latitude on circadian rhythm and consequently genetic variability key regulators, ARNTL CLOCK genes, contribute to risk for sclerosis. Our aim was analyse selected polymorphisms CLOCK, their association A total 900 Caucasian patients 1024 healthy controls were compared signature at 8 SNPs, 4 each both genes. found a statistically significant difference...
OFD1, now recognized as a ciliopathy, is characterized by malformations of the face, oral cavity and digits, transmitted an X-linked condition with lethality in males. Mutations OFD1 also cause Joubert syndrome (JBTS10) Simpson-Golabi-Behmel type 2 (SGBS2). We have studied 55 sporadic six familial cases suspected OFD1. Comprehensive mutation analysis revealed mutations 37 female patients from 30 families; 22 not been previously described including two heterozygous deletions spanning...
The group of dystonia genes is expanding, and mutations these have been associated with various combined syndromes. Among the latter, cause some parkinsonism cases remains unknown.To report patients early-onset as a result loss-of-function in nuclear receptor subfamily 4 A member 2.Phenotypic characterization exome sequencing were carried out 2 families.The reported here both had history mild intellectual disability childhood subsequently developed early adulthood. Brain magnetic resonance...
The treatment of depression with desoxyephedrine (pervitin or methedrine) is not new. In 1943 Davidoff reported a comparison the effect this preparation amphetamine and dextroamphetamine on 8 normal depressed individuals. He found that gave most rapid results, acted longest produced greatest motor activity often.
The objective of reported study was to evaluate the clinical utility prenatal microarray testing for submicroscopic genomic imbalances in routine settings and stratify findings according type fetal ultrasound anomaly.From July 2012 October 2015 chromosomal performed 218 fetuses with varying indications invasive diagnosis: abnormal karyotype, anomalies, pathogenic variant previous pregnancy or carriership a parent.The detection rate group anomalies 10,0% copy number variants (CNVs), five them...
p. 1482) questions the factual basis for my tentative conclusion (21 May, 1301) that general practice may be most appropriate setting conducting clinical trials.Two types of defaulting in respect adherence to treatment schedules must distinguished, and perhaps should have been distinguished original letter.The first group are " overt defaulters," second occult defaulters."The former fail complete trial reasons which obvious doctor-for example, volunteering they stopped tab- lets, leaving...
I> a recent stu(ly1 by one of us devoted to consideration the Argyll Robertson phenomenon in ail its aspects, special reference was ima(le occuLrence, among other non-syphilitic conditions, cases mesencephalic tunmour, and several personal obscrvsations werc cited prove that this association is not only definite if comparatively rare, but also great localizing significance.We are able, brief colllllnication fromi Neurological Clinic at King's College Hospital, record another example...
The periods under review were selected according to the availability of suitable material. Before year 1907 and during years Great War number deaths divided into age-groups are not readily obtainable. immediately following end war considered be unsuitable owing occurrence epidemics influenza.
To evaluate the impact of prenatal screening and genetic testing for trisomy 21 (T21) on prevalence T21 in Slovenia.Data about all prenatally postnatally confirmed cases Slovenia between 1981 2012 were collected retrospectively from laboratories Slovenia. The expected number babies with according to maternal age was calculated.The primary outcomes measures fetuses newborn infants diagnosed advances diagnostics newborns Slovenia.Despite a significantly increased mean 25.4 years year 30.3 0.51...
Numerous articles have appeared within the last few months in both Continental and English literature describing value of malarial treatment cases general paralysis. Thus Yorke Macfie state that out 84 paralytics treated with malaria, 23 (or 27.4 per cent.) had been, or were about to be, discharged, at time writing, from mental hospitals. Weygandt 50 obtained good remissions 48 cent. , Kirschbaum 51 58.8 Scripture states Wagner-Jauregg's clinic complete 44 cent 141 treated. This percentage...
As experience has accumulated with the extended use of malaria for thera-Ieutic purposes new and interesting observations have been made.Some these are value to malariologist, some neurologist, psychiatrist.This article is an attempt at a summary more important that made within recent years.Up year 1926, position therapeutic was summarized in earlier work, so only facts brought light since date will be recorded.Confirmatory evidence not described. INDICATIONSDementia paralytica, or general...
Several fallacies may occur in the recording of pressure cerebro-spinal fluid. These be related to (1) type apparatus used, (2) movements patient, and (3) reading pressure.
Polymorphisms in the CTLA-4 gene are known to be important several autoimmune diseases, including multiple sclerosis (MS). Previous studies on impact of +49 A/G polymorphism have given contradictory results. We investigated possible influence this MS susceptibility and disease behaviour Croatian Slovenian populations. Genotyping was performed 367 patients with 480 control subjects using PCR-RFLP method. The G allele present 216 (58.9%) vs. 282 (58.7%) healthy controls (P = 0.975, OR 1.01,...
Thiamine or aneurine has for many years been known as the anti-neuritic vitamin, although action of this substance in organic nervous trouble is not established. Less well-known its on higher cerebral processes, but results investigations appear to show that it a definite effect these. M. V. Dias (1947) found application thiamine hydrochloride solution motor cortex unanaesthetized dogs produced clonic contractions appropriate muscles, and Harrell (1946) reports striking psychological normal children.
Abstract Background C.35delG/GJB2 mutation is the most frequent genetic cause of deafness in Caucasians. Another some Caucasian populations del( GJB6 -D13S1830). Both GJB2 and genes belong to same DFNB1 locus when two mutations are found combination a hearing-impaired person, digenic pattern inheritance suggested. Methods We examined 63 Croatian subjects (25 familial 38 sporadic cases) with prelingual non-syndromic hearing impairment by polymerase chain reaction for presence c.35delG/...
X-linked recessive type chondrodysplasia punctata (CDPX1) is a congenital disorder of cartilage and bone development with typical findings stippled epyphises, nasomaxillary hypoplasia short distal phalanges in male patient. Disease caused due to the loss arylsulfatase E activity only 55 patients genetically confirmed disease have been reported so far. In 60–75 % all mutation ARSE gene detected by sequence analysis further 25 Xp deletions or rearrangements are causative may be identified...