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Background: Congenital factor VII (FVII) deficiency, a rare bleeding disorder resulting from mutations in the F7 gene with autosomal recessive inheritance, exhibits clinical heterogeneity that lacks a strong correlation with FVII:C levels. The objective of this study was to discern genetic defects and assess their associations with the clinical phenotype in a substantial cohort comprising 785 white women exhibiting FVII:C levels below the age-dependent cut-off percentage. Patients and Methods: Individuals with verified inherited factor VII deficiency underwent i) genotyping using the Sanger method and multiplex ligation-dependent probe amplification (MLPA) to identify F7 mutations, including common polymorphic variants. Additionally, they were ii) categorized based on clinical bleeding scores (BS). Thrombophilic variants and blood groups were also determined in the study participants. Results: The probands in this study encompassed both asymptomatic individuals (referred for a laboratory investigation due to recurrent prolonged prothrombin time; n = 221) and patients who manifested mild, moderate, or severe bleeding episodes (n = 564). The spectrum of bleeding symptoms included epistaxis, gum bleeding, gastrointestinal bleeding, hematuria, postoperative bleeding, and gynecologic hemorrhage. The median ISTH bleeding score (BS) recorded within a two-year period prior to the work-up was 2 (0–17). Notably, this score was significantly higher in symptomatic women compared to their asymptomatic counterparts (3 versus 0; p < 0.001). The corresponding PBAC score before hormonal treatment stood at 225 (5–1200), exhibiting a positive correlation with the ISTH BS (rho = 0.38; p = 0.001). Blood group O was more prevalent in symptomatic women compared to asymptomatic individuals (58 versus 42%; p = 0.01). Among the 329 women (42%), known and novel mutations in the F7 gene, encompassing coding regions, exon/intron boundaries, and the promoter region, were identified, while common polymorphisms were detected in 647 subjects (95%). Logistic regression analysis, adjusted for clinical and laboratory data (including blood group, FVII activity, the presence of F7 gene mutations and/or polymorphisms, thrombophilia status, and additional factor deficiencies) revealed that older age at referral (increase per year) (odds/95% CI: 1.02/1.007–1.03), the presence of blood group O (odds/95% CI: 1.9/1.2–3.3), and the coexistence of further bleeding defects (odds/95% CI: 1.8/1.03–3.1) partially account for the differences in the clinical bleeding phenotype associated with FVII deficiency. Conclusion: The clinical phenotype in individuals with FVII deficiency is impacted by factors such as age, blood group, and the concurrent presence of other bleeding defects. [ABSTRACT FROM AUTHOR]

Objectives: The present study aimed to evaluate the postoperative quality of life (QOL) after surgery for the treatment of intracranial meningioma in cats Methods: The study included 14 cases that underwent craniotomy from May 2009 to March 2021. Owners were contacted via telephone after a median time of 967 (range 227–4209) days after surgery and surveyed with a specially designed questionnaire that consisted of three domains, subdivided into different items. Physical behaviour, including general condition, food intake, mobility and overall impression, was evaluated from 0, reflecting the worst status, to 10, reflecting the best. The development of preoperative existing clinical signs, seizures and concurrent medication were evaluated individually for each patient. The time span necessary for the improvement of each item was recorded. Finally, satisfaction about the decision for surgery was ranked from 0 to 10. Results: Thirteen questionnaires were completed. Three cats were evaluated twice owing to revision surgery. Owners reported a statistically significant (P <0.001) improvement from immediately after the operation to 240 days after surgery. Preoperative clinical signs resolved in 95% of cases. All questioned owners would opt for surgery again. Conclusions and relevance: QOL after surgery for intracranial meningioma in cats seems encouraging regarding our study. Nevertheless, limitations, such as small sample size, recall bias, lack of a control group and validation of the questionnaire, need to be kept in mind when interpreting the results. [ABSTRACT FROM AUTHOR]

Abstract Background Catheter ablation of the pulmonary veins has become accepted as a standard therapeutic approach for symptomatic paroxysmal atrial fibrillation (AF). However, there is some evidence for an ablation associated (silent) stroke risk, lowering the hope to limit the stroke risk by restoration of rhythm over rate control in AF. The purpose of the prospective randomized single-center study "Mesh Ablator versus Cryoballoon Pulmonary Vein Ablation of Symptomatic Paroxysmal Atrial Fibrillation" (MACPAF) is to compare the efficacy and safety of two balloon based pulmonary vein ablation systems in patients with symptomatic paroxysmal AF. Methods/Design Patients are randomized 1:1 for the Arctic Front® or the HD Mesh Ablator® catheter for left atrial catheter ablation (LACA). The predefined endpoints will be assessed by brain magnetic resonance imaging (MRI), neuro(psycho)logical tests and a subcutaneously implanted reveal recorder for AF detection. According to statistics 108 patients will be enrolled. Discussion Findings from the MACPAF trial will help to balance the benefits and risks of LACA for symptomatic paroxysmal AF. Using serial brain MRIs might help to identify patients at risk for LACA-associated cerebral thromboembolism. Potential limitations of the study are the single-center design, the existence of a variety of LACA-catheters, the missing placebo-group and the impossibility to assess the primary endpoint in a blinded fashion. Trial registration clinicaltrials.gov NCT01061931

Case Summary: A 2-year-old cat was presented with nasopharyngeal stridor and stertor. Radiographs of the upper neck region showed a mass lesion in the nasopharynx. A nasopharyngeal polyp was suspected, but an attempt at endoscopic removal failed, owing to fragmentation of the mass and excessive haemorrhage. A sample was taken and histology confirmed a dermoid cyst. CT was performed and the lesion was described as most likely to be a dermoid cyst, consistent with the histopathological findings. Surgical exploration and subsequent complete removal of the mass led to a full recovery., Relevance and Novel Information: The nasopharyngeal location represents a previously unreported location of a dermoid cyst. This report raises awareness of dermoid cysts as a potential differential diagnosis within the nasopharyngeal region and highlights the importance of pre-interventional diagnostic imaging., Competing Interests: Conflict of interest: The authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article., (© The Author(s) 2022.)