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Objective A substantial part of central nervous system (CNS) disorders remains unexplained, despite various new and minimally invasive diagnostic techniques. Within this rapidly developing diagnostic field, the precise role of brain biopsy is unknown. We aimed to study the clinical impact and safety of brain biopsies in unexplained CNS disorders. Methods In this retrospective cohort study, we included all adult patients who were referred for a diagnostic work‐up to our academic center with neuro‐inflammatory, neuro‐oncological, and neuro‐infectious expertise and underwent a brain biopsy between January 2010 and December 2023. Typical cases of CNS neoplasms and infections were not analyzed. Brain biopsies were evaluated with respect to diagnostic and therapeutic impact and complication risk. Results Brain biopsy was performed in 587 patients. Ninety‐four patients with a CNS disorder of unknown cause, with 107 biopsies, were analyzed (44% female, median age 58 years). Postoperative diagnoses included brain tumors/lymphomas (37/94, 39%), inflammatory disorders (11/94, 12%), infections (8/94, 9%), autoimmune encephalitis (8/94, 9%), and primary angiitis of the CNS (4/94, 4%). Diagnostic yield of brain biopsy was 62%, increasing up to 72% after repeat biopsies, as 10 additional patients were diagnosed with a brain tumor. In 77% of patients, brain biopsy changed the treatment strategy. Symptomatic intracranial hemorrhage occurred in 4 of 107 brain biopsies (4%). Interpretation In a selected population of patients with unexplained CNS disorders, clinical impact of brain biopsies is high, while being relatively safe. A multidisciplinary team approach is fundamental in establishing optimal indication for brain biopsy and subsequent treatment decisions.

Background Susac syndrome (SuS) is a rare disease characterized by encephalopathy, hearing impairment and visual disturbances. Immunosuppressive treatments are used based on the hypothesis that an autoimmune endotheliopathy drives the disease. However, a solid evidence-based treatment approach is lacking. The aim of this review is to provide an overview of patient characteristics, disease course and treatment patterns related to successful outcome that have been reported in literature since 2013. Methods Three reviewers conducted a systematic literature search in February 2022. The primary outcome was treatment used, derived from cases classified as probable or definite SuS, describing successful treatment outcome (i.e. no signs of disease activity for ≥ 1 month). Secondary outcomes were time-to-relapse and follow-up time. Published case reports and case series were included. Various clinical characteristics and treatment(s) were extracted and categorized into different phases of treatment. Results A total of 810 records was identified. 120 articles met inclusion criteria and 161 cases were extracted. Of these, 151 cases were classified as probable or definite SuS and included in the final analysis. Number of combinations of treatments used per treatment phase were: 6 empirically, 35 after confirmed diagnosis, 43 for maintenance treatment, 22 after relapse, 18 during maintenance post-relapse. Median follow-up time was 12.3 months (0.5; 120) and median time to relapse was 4 months (1; 120). Conclusion This scoping review summarizes treatment approaches in patients with SuS, highlighting variability. International efforts to collect clinical, imaging and treatment data from patients with SuS in registries are needed, in order to provide less biased and long-term follow-up information on treatment response, predictors of relapse and patient outcomes. This may lead to more evidence-based therapeutic approaches.

Invasive infection with Lancefield group C streptococci in humans is extremely rare, with the vast majority of clinical isolates belonging to Streptococcus dysgalactiae subsp. equisimilis. We report a case of meningoencephalitis in a 69-year-old man caused by Streptococcus equi subsp. equi, a microbe that causes strangles in Equus caballus (i.e., the horse). This is only the fourth infection with this subtype of the central nervous system (CNS) reported in humans. The invasiveness of these bacteria, known to be capable of releasing strongly immunogenic exotoxins, is illustrated by white matter lesions that are present in the acute phase. This patient initially recovered well after treatment with antibiotics and glucocorticoids. However, the patient was readmitted 5 months later with multiple intraparenchymatous cerebral haemorrhages. Cerebral angiography confirmed the presence of a suspected superficial dural arteriovenous fistula (DAVF), which is seldom reported after CNS infection. The invasiveness of these bacteria was illustrated by white matter lesions present in the acute phase and the occurrence of a de novo dural arteriovenous fistula in the follow-up period.

We present the case of a 58-year-old man who underwent urgent blowhole colostomy for toxic megacolon (TM) secondary to Clostridium difficile infection (CDI). This infection occurred under antibiotic coverage with amoxicillin-clavulanic acid, four days after laparoscopic sigmoidectomy in our hospital. Although prospective clinical research regarding the surgical management of TM is lacking, decompressive procedures like blowhole colostomy are reported to carry a high risk of postoperative morbidity and mortality and are widely regarded as obsolete. Subtotal or total colectomy with end ileostomy is currently considered the procedure of choice. After presenting our case, we discuss the literature available on the subject to argue that the scarce evidence on the optimal surgical treatment for TM is primarily based on TM associated with inflammatory bowel diseases (IBD) and that there might be a rationale for considering minimally invasive procedures like blowhole colostomy for CDI-associated TM.

Extrapulmonary tuberculosis can present with a large variety of mimics of other, treatable, disorders. We present a young man with advanced cranial disease responding to tuberculostatic treatment but posing significant diagnostic and therapeutic challenges.

Initially, he received three cycles of platinum-based palliative chemotherapy but because of further progression of the metastatic process (largest lesion: 9 × 5.8 cm) and reduced tolerance for this treatment he was offered partial hepatectomy of segments V-VI.

The genomes of thousands of individuals are profiled within Dutch healthcare and research each year. However, this valuable genomic data, associated clinical data and consent are captured in different ways and stored across many systems and organizations. This makes it difficult to discover rare disease patients, reuse data for personalized medicine and establish research cohorts based on specific parameters. FAIR Genomes aims to enable NGS data reuse by developing metadata standards for the data descriptions needed to FAIRify genomic data while also addressing ELSI issues. We developed a semantic schema of essential data elements harmonized with international FAIR initiatives. The FAIR Genomes schema v1.1 contains 110 elements in 9 modules. It reuses common ontologies such as NCIT, DUO and EDAM, only introducing new terms when necessary. The schema is represented by a YAML file that can be transformed into templates for data entry software (EDC) and programmatic interfaces (JSON, RDF) to ease genomic data sharing in research and healthcare. The schema, documentation and MOLGENIS reference implementation are available at https://fairgenomes.org .

Background In Turkey, nursing care in hospitals has gradually included more older patients, resulting in a need for knowledgeable geriatric nurses. It is unknown, however, whether the nursing workforce is ready for this increase. Therefore, the aim of this study is to validate the Knowledge about Older Patients Quiz (KOPQ) in the Turkish language and culture, to describe Turkish hospital nurses’ knowledge about older patients, and to compare levels of knowledge between Turkish and Dutch hospital nurses. Method First, the KOPQ was translated, resulting in the KOPQ-TR. Then, content validity was assessed by 10 geriatric experts using the Lynn method, a pilot test among 10 nurses was conducted, and a Rasch analysis was performed using data from 135 nurses working in two Turkish hospitals. Finally, a comparison between Turkish and Dutch nurses’ levels of knowledge was performed. Results The results of the qualitative validation (i.e., content validity by experts and nurses), model fit, item reliability and the item separation index of the KOPQ-TR proved excellent, indicating good content and construct validity. However, the Person Separation Index and Person Reliability of the Rash analysis did not meet the criteria for adequate scale and psychometric validation. The levels of knowledge among Turkish nurses were significantly lower than those of Dutch nurses. Conclusions The KOPQ-TR is promising for use in Turkey, although psychometric validation should be repeated using a better targeted sample with a larger ability variance to adequately assess the Person Separation Index and Person Reliability. Currently, education regarding care for older patients is not sufficiently represented in Turkish nursing curricula. However, the need to do so is evident, as the results demonstrate that knowledge deficits and an increase in older patients admitted to the hospital will eventually occur. International comparison and cooperation provides an opportunity to learn from other countries that currently face the challenge of an aging (hospital) population.

Germline mutations in succinate dehydrogenase subunit B and D (SDHB and SDHD) are predisposed to hereditary paraganglioma (PGL) and pheochromocytoma (PHEO). The phenotype of pathogenic variants varies according to the causative gene. In this retrospective study, we estimate the mortality of a nationwide cohort of SDHB variant carriers and that of a large cohort of SDHD variant carriers and compare it to the mortality of a matched cohort of the general Dutch population. A total of 192 SDHB variant carriers and 232 SDHD variant carriers were included in this study. The Standard Mortality Ratio (SMR) for SDHB mutation carriers was 1.89, increasing to 2.88 in carriers affected by PGL. For SDHD variant carriers the SMR was 0.93 and 1.06 in affected carriers. Compared to the general population, mortality seems to be increased in SDHB variant carriers, especially in those affected by PGL. In SDHD variant carriers, the mortality is comparable to that of the general Dutch population, even if they are affected by PGL. This insight emphasizes the significance of DNA-testing in all PGL and PHEO patients, since different clinical risks may warrant gene-specific management strategies.

SARS-CoV-2 B.1.1.529, designated omicron, was recently identified as a new variant of concern by WHO and is rapidly replacing SARS-CoV-2 delta as the most dominant variant in many countries. Unfortunately, because of the high number of mutations present in the spike of SARS-CoV-2 omicron, most monoclonal antibodies (mAbs) currently approved for treatment of COVID-19 lose their in vitro neutralizing activity against this variant. We recently described a panel of human anti-SARS-CoV-2 mAbs that potently neutralize SARS-CoV-2 Wuhan, D614G and variants alpha, beta, gamma and delta. In this work, we evaluated our mAb panel for potential in vitro activity against SARS-CoV-2 delta and omicron. Three mAbs from our panel retain neutralizing activity against both delta and omicron, with mAb 3B8 still resulting in complete neutralization at a concentration as low as 0.02 ug/ml for both variants. Overall, our data indicate that mAb 3B8 may have the potential to become a game-changer in the fight against the continuously evolving SARS-CoV-2. Competing Interest Statement The authors have declared no competing interest.