- Metabolism and Genetic Disorders
- Neurological diseases and metabolism
- Muscle Physiology and Disorders
- Orthopaedic implants and arthroplasty
- Nuclear Structure and Function
- Connective tissue disorders research
- Skin and Cellular Biology Research
- Lysosomal Storage Disorders Research
- Mitochondrial Function and Pathology
- Total Knee Arthroplasty Outcomes
- Genomics and Rare Diseases
- RNA Research and Splicing
- RNA regulation and disease
- Genetics and Neurodevelopmental Disorders
- Epigenetics and DNA Methylation
- Hereditary Neurological Disorders
- Amino Acid Enzymes and Metabolism
- Neurological disorders and treatments
- Trace Elements in Health
- Wnt/β-catenin signaling in development and cancer
- Knee injuries and reconstruction techniques
- Congenital heart defects research
- Advanced X-ray and CT Imaging
- Muscle metabolism and nutrition
- Genetic Neurodegenerative Diseases
University of Bern
1934-2024
University Hospital of Bern
2018-2022
Hirslanden Salem-Spital
2014
Max Planck Institute for Evolutionary Biology
2003
Most models of sex allocation distinguish between sequential and simultaneous hermaphrodites, although an intermediate sexual pattern, size-dependent allocation, is widespread in plants. Here we investigated a hermaphrodite animal, the tapeworm Schistocephalus solidus, which adult size highly variable. Sex was determined using stereological techniques, allow measuring somatic reproductive tissues common currency, namely volume. We relationships individual volume to different allometric...
The main goals of the standard treatment for advanced symptomatic knee osteoarthritis, total arthroplasty (TKA), are pain reduction and restoration motion. aim this study was to analyse outcome patient-based Knee Injury Osteoarthritis Outcome Score (KOOS), surgeon-based Society (KSS) its (KS) Functional (KFS) components after (TKA) using Journey prosthesis, assess correlation these scores with range motion (ROM). In a prospective case series between August 1st 2008 May 31st 2011, 99...
Muscular dystrophy due to dystrophin deficiency in humans is phenotypically divided into a severe Duchenne and milder Becker type. Dystrophin has also been described few animal species, DMD gene variants have identified animals. Here, we characterize the clinical, histopathological, molecular genetic aspects of family Maine Coon crossbred cats with clinically mild slowly progressive muscular dystrophy. Two young adult male littermate exhibited abnormal gait hypertrophy macroglossia. Serum...
Abstract Two Jack-Russell Terrier × Chihuahua mixed-breed littermates with Leigh syndrome were investigated. The dogs presented progressive ataxia, dystonia, and increased lactate levels. Brain MRI showed characteristic bilateral symmetrical T2 hyperintense lesions, histologically representing encephalomalacia. Muscle histopathology revealed accumulation of mitochondria. Whole genome sequencing identified a missense variant in gene associated human syndrome, NDUFS7 :c.535G > A or...
Neuronal ceroid lipofuscinoses (NCL) are among the most prevalent neurodegenerative disorders of early life in humans. Disease-causing variants have been described for 13 different NCL genes. In this study, a refined pathological characterization female rabbit with progressive neurological signs reminiscent was performed. Cytoplasmic pigment present neurons weakly positive Sudan black B and autofluorescent. Immunohistology revealed astrogliosis, microgliosis axonal degeneration. During...
We investigated a hereditary cerebellar ataxia in Belgian Shepherd dogs. Affected dogs developed uncoordinated movements and intention tremor at two weeks of age. The severity clinical signs was highly variable. Histopathology demonstrated atrophy the CNS, particularly cerebellum. Combined linkage homozygosity mapping family with four affected puppies delineated 52 Mb critical interval. comparison whole genome sequence data one dog to 735 control genomes revealed private homozygous...
Many hermaphroditic parasites reproduce by both cross-fertilization and self-fertilization. To understand the maintenance of such mixed mating systems it is necessary to compare fitness consequences two reproductive modes. This has, however, almost never been done in context host-parasite coevolution. Here we show outcrossing selfing an advanced life-stage cestode Schistocephalus solidus, i.e. its second intermediate host, three-spined stickleback (Gasterosteus aculeatus). Each juvenile was...
Congenital insensitivity to pain (CIP) and hereditary sensory autonomic neuropathies (HSANs) are a rare group of genetic disorders causing inability feel pain. Three different associated variants have been identified in dogs: 1 Border Collies, mixed breed dogs, Spaniels Pointers.To clinically genetically characterize CIP family dogs.Two dogs from the same litter were independently presented: for evaluation painless fractures, other chronic thermal skin injuries.Physical, neurological,...
We investigated a syndromic disease comprising blindness and neurodegeneration in 11 Saarlooswolfdogs. Clinical signs involved early adult onset retinal degeneration adult-onset neurological deficits including gait abnormalities, hind limb weakness, tremors, ataxia, cognitive decline behavioral changes such as aggression towards the owner. Histopathology one affected dog demonstrated cataract, degeneration, central peripheral axonal severe astroglial hypertrophy hyperplasia nervous system....
Abstract Case Description A 9‐month‐old intact male domestic shorthair cat was evaluated for increasing frequency of generalized tonic‐clonic seizures. Clinical Findings The reported to have had episodes circling between the Upon examination, bilateral inconsistent menace response but otherwise normal physical and neurological examinations. Diagnostics Magnetic resonance imaging (MRI) brain identified multifocal, small, rounded intra‐axial lesions within subcortical white matter containing...
Pelger-Huët anomaly (PHA) in humans is an autosomal dominant hematological phenotype without major clinical consequences. PHA involves a characteristic hyposegmentation of granulocytes (HG). Human caused by heterozygous loss function variants the LBR gene encoding lamin receptor B. Bi-allelic and complete deficiency cause much more severe Greenberg skeletal dysplasia which lethal utero characterized massive malformation gross fetal hydrops. HG phenotypes have also been described domestic...
We investigated a hereditary syndrome in Cane Corso dogs. Affected dogs developed dental-skeletal-retinal anomaly (DSRA), clinically characterized by brittle, discolored, translucent teeth, disproportionate growth and progressive retinal degeneration resulting vision loss. Combined linkage homozygosity mapping delineated 5.8 Mb critical interval. The comparison of whole genome sequence data an affected dog to 789 control genomes revealed private homozygous splice region variant the It MIA3...
A 1-month-old, female, smooth-haired miniature Dachshund with dilute color and neurological defects was investigated. The aim of this study to characterize the clinical signs, histopathological changes underlying genetic defect. puppy had visible coat dilution unable hold its head on own or remain in a stable prone position for an extended period. Histopathological examination revealed accumulation clumped melanin deposition accumulated keratin within hair follicles, accompanied by dermal...
Background and Objectives: Even after the ‘death’ of Lewinnek’s safe zone, orientation prosthetic cup in total hip arthroplasty is crucial for success. Accurate placement can be achieved with surgical navigation systems. The literature lacks study cohorts large numbers hips because postoperative computer tomography required reproducible evaluation acetabular component position. To overcome this limitation, we used a validated software program, HipMatch, to accurately assess based on an...
Some paroxysmal movement disorders remain without an identified genetic cause.The aim was to identify the causal variant for a dystonia-ataxia syndrome in Weimaraner dogs.Clinical and diagnostic investigations were performed. Whole genome sequencing of one affected dog used private homozygous variants against 921 control genomes.Four Weimaraners presented episodes abnormal gait. Results examinations unremarkable. revealed frameshift TNR (tenascin-R) gene dog, XM_038542431.1:c.831dupC, which...
Familial cerebellar ataxia with hydrocephalus in Bullmastiffs was described almost 40 years ago as a monogenic autosomal recessive trait. We investigated two young showing similar clinical signs. They developed progressive gait and behavioural abnormalities an onset at around 6 months of age. Neurological assessment consistent multifocal brain disease. Magnetic resonance imaging the showed intra-axial bilateral symmetrical focal lesions localised to nuclei. Based on juvenile age, nature...
Different breed-specific inherited cataracts have been described in dogs. In this study, we investigated an inbred family of Wirehaired Pointing Griffon dogs which three offspring were affected by juvenile cataract. The pedigree suggested monogenic autosomal recessive inheritance the trait. Whole-genome sequencing dog revealed 12 protein-changing variants that not present 566 control genomes, two located functional candidate genes, FYCO1 and CRYGB. Targeted genotyping both excluded CRYGB...
Loss-of-function variants in the NSDHL gene have been associated with epidermal nevi humans congenital hemidysplasia, ichthyosiform nevi, and limb defects (CHILD) syndrome companion animals. The codes for NAD(P)-dependent steroid dehydrogenase-like protein, which is involved cholesterol biosynthesis. In this study, a female Chihuahua cross clinical histological phenotype consistent progressive presented. All exons of candidate were amplified by PCR analyzed Sanger sequencing. A heterozygous...
A 7-month-old, spayed female, domestic longhair cat with L-2-hydroxyglutaric aciduria (L-2-HGA) was investigated. The aim of this study to investigate the clinical signs, metabolic changes and underlying genetic defect. owner reported a 4-month history multiple paroxysmal seizure-like episodes, characterized by running around house, often in circles, abnormal behavior, bumping into obstacles, salivating urinating. episodes were followed period disorientation inappetence. Neurological...
Hereditary myopathies are well documented in dogs, whereas hereditary dyserythropoietic anemias rarely seen. The aim of this study was to further characterize the clinical and clinicopathological features identify causative genetic variant for a anemia myopathy syndrome (DAMS) English springer spaniel dogs (ESSPs). Twenty-six ESSPs, including five with DAMS two puppies that died perinatally, were studied. Progressive weakness, muscle atrophy—particularly temporal pelvic muscles—trismus,...
A 3-year-old, male neutered Cavalier King Charles Spaniel (CKCS) presented with complex focal seizures and prolonged lethargy. The aim of the study was to investigate clinical signs, metabolic changes underlying genetic defect. Blood urine organic acid analysis revealed increased medium-chain fatty acids together findings suggested a diagnosis acyl-CoA dehydrogenase (MCAD) deficiency. We sequenced genome affected dog compared data 923 control genomes different breeds. ACADM gene encoding...
A 9-month-old male Bullmastiff cross dog was presented with a history of progressive proprioceptive ataxia and behavior changes. Neuroanatomical localization multifocal forebrain vestibulo-cerebellum involvement. MRI identified moderate diffuse cerebral sulci widening, dilation the ventricular system, rounded, well-defined, bilaterally symmetrical T2W, FLAIR, T2* hyperintense intra-axial lesions affecting olivary nuclei. Histopathological examination indicative primary mitochondrial...
Abstract Primary ciliary dyskinesia (PCD) represents a group of diseases characterized by impaired movement cilia and subsequent health problems in diverse organ systems, notably the respiratory tract. Almost 50 candidate genes for PCD are known humans. In this study, we investigated an Australian Shepherd dog with history recurrent infections nasal discharge. A transmission electron microscopy investigation led to diagnosis central pair defect, which normal 9:2 arrangement was altered...