The Dutch Dystrophinopathy Database: A National Registry with Standardized Patient and Clinician Reported Real-World Data.

Background: Duchenne and Becker muscular dystrophy lack curative treatments. Registers can facilitate therapy development, serving as a platform to study epidemiology, assess clinical trial feasibility, identify eligible candidates, collect real-world data, perform post-market surveillance, and collaborate in (inter)national data-driven initiatives. Objective: In addressing these facets, it's crucial to gather high-quality, interchangeable, and reusable data from a representative population. We introduce the Dutch Dystrophinopathy Database (DDD), a national registry for patients with DMD or BMD, and females with pathogenic DMD variants, outlining its design, governance, and use. Methods: The design of DDD is based on a system-independent information model that ensures interoperable and reusable data adhering to international standards. To maximize enrollment, patients can provide consent online and participation is allowed on different levels with contact details and clinical diagnosis as minimal requirement. Participants can opt-in for yearly online questionnaires on disease milestones and medication and to have clinical data stored from visits to one of the national reference centers. Governance involves a general board, advisory board and database management. Results: On November 1, 2023, 742 participants were enrolled. Self-reported data were provided by 291 Duchenne, 122 Becker and 38 female participants. 96% of the participants visiting reference centers consented to store clinical data. Eligible patients were informed about clinical studies through DDD, and multiple data requests have been approved to use coded clinical data for quality control, epidemiology and natural history studies. Conclusion: The Dutch Dystrophinopathy Database captures long-term patient and high-quality standardized clinician reported healthcare data, supporting trial readiness, post-marketing surveillance, and effective data use using a multicenter design that is scalable to other neuromuscular disorders.

[Depression and intermittent hypercortisolism: a difficult differential diagnostic process]. / Differentiaaldiagnose bij depressie en intermitterend hypercortisolisme.

Both Cushing’s and pseudo-Cushing’s syndrome involve a state of hypercortisolism. Cushing’s syndrome is a progressive multisystemic disease, caused by either the administration of corticosteroids, or the overproduction of cortisol by a tumoral process. In pseudo-Cushing’s syndrome the HPA-axis is hyperactive due to a pathophysiological process, most frequently caused by depression. The existence of a cyclic variant of Cushing’s syndrome, characterised by intermittent hypercortisolism, complicates the diagnosis in a patient with for example depression. In case of remaining intermittent hypercortisolism after remission of the depression, extreme hypercortisolism and (suspicion of) a tumor, we have to consider a cyclic Cushing syndrome. Also, in patients with treatment resistant depression or depression with atypical features combined with intermittent hypercortisolism psychiatrists have to consider a cyclic Cushing syndrome.

[Skin picking disorder in clinical practice]. / Excoriatiestoornis in de klinische praktijk.

Excoriation disorder (skin picking disorder, SPD) is an illness that is included in the classification of mental disorders since DSM-5. Despite a prevalence of 1.4-5.7% in the general population, this is a not well-known condition among dermatologists and psychiatrists. We describe a case of a man who lost all upper incisors and canines as a result of a severe form of SPD. We provide an overview of the treatment options and call for increased attention for this condition.

An Outbreak Associated with Streptococcus equi Subsp. zooepidemicus in Layers: Evidence of Fecal Transmission.

Major disease outbreaks caused by Streptococcus equi subsp. zooepidemicus seldom are reported in poultry. Besides acute septicemia, infection can result in a subacute or chronic form of disease with described mortality rates of 11% to 80%. Previously, the source of infection in poultry was linked to horses in which this bacterium can be present as an opportunistic pathogen on mucus membranes. The main route of spreading and being maintained within a poultry flock, after entering the stable, however, remains unclear. This case report describes an outbreak associated with S. zooepidemicus affecting a flock of 28 500 layer hens housed in an aviary system with free range. Besides sudden deaths, clinical signs of depression were noticed. Between 44 and 61 wk of age a total mortality of 23% was observed. Egg production dropped from 92% to 83%. Bacterial titration revealed substantial numbers of S. zooepidemicus present in the ceca of a healthy chicken. This novel finding hypothesizes that transmission of the infection within the flock might occur through the fecal route.

Fatal Disseminated Toxoplasma gondii Infection in a Captive Harbour Porpoise (Phocoena phocoena).

A 7-year-old female harbour porpoise (Phocoena phocoena), born and held in captivity, suffered from reduced consciousness, imprecise and circling swimming movements and long phases of immobility over a period of 3 weeks. The animal died during treatment in a Danish open sea facility. Pathological examination revealed multifocal pyogranulomatous to necrotizing meningoencephalomyelitis, ganglioneuritis, plexus chorioiditis, myocarditis, hepatitis and adrenalitis with few intralesional protozoal tachyzoites and bradyzoites within cysts. Immunohistochemistry was positive for Toxoplasma gondii antigen within the lesions. Using polymerase chain reaction (PCR), the presence of T. gondii-specific genome fragments was confirmed. A multilocus PCR-restriction fragment length polymorphism analysis using nine unlinked marker regions (nSAG2, SAG3, BTUB, GRA6, c22-8, c29-2, L358, PK1 and Apico) resulted in the identification of T. gondii type II (variant Apico Type I), which is the T. gondii genotype dominating in Germany. This is the first description of disseminated fatal toxoplasmosis in a captive harbour porpoise that lived in an open sea basin. Surface water contaminated with toxoplasma oocysts is regarded as the most likely source of infection.