We report a case of primary sclerosing encapsulating peritonitis (SEP) in a 70-year-old male, initially presenting as recurrent incomplete intestinal obstruction. Concomitant cryptorchidism was consistent with an underlying developmental cause. The patient also had subclinical type A atrophic gastritis and hypothyroidism. The diagnosis of primary SEP requires the exclusion of secondary causes and relies on a synthesis of imaging, surgical, and pathological findings. The patient underwent successful surgical intervention, including adhesion lysis and partial ileocecal resection, resulting in symptomatic relief and a favorable recovery. Primary SEP is a rare condition with non-specific symptoms, predominantly intestinal obstruction, making preoperative diagnosis difficult and misdiagnosis common. Heightened awareness and meticulous imaging analysis are essential for timely and accurate diagnosis.
Naturally occurring hereditary diseases in dogs and cats can overcome major barriers in developing therapies for rare human genetic disorders, including limited natural history data, poor genotype-phenotype resolution, inadequate biomarkers, and weak translation from rodent models. By focusing on Niemann-Pick disease type C1 (NPC disease) in cats as a representative lysosomal disorder, the relevance of translating findings from large animal models to both pediatric medicine and veterinary neurology is discussed. The feline model of NPC disease closely mirrors the human disease genetically, biochemically, pathologically, and clinically, showing progressive cerebellar ataxia, Purkinje neuron loss, neuroaxonal dystrophy, hepatic disease, and abnormal cholesterol and sphingolipid storage. Studies in affected cats established the disease’s natural history, identified plasma 24(S)-hydroxycholesterol and spinal fluid calbindin D as biomarkers of disease progression, and enabled rigorous testing of therapies. Oral miglustat modestly delayed neurological decline, while intrathecal 2-hydroxypropyl-beta-cyclodextrin produced marked preservation of neurological function, prolonged survival, and reduced neuropathology, although ototoxicity emerged as an important adverse effect. These feline preclinical studies directly informed human clinical trial design, dosing, safety monitoring, and biomarker development, thereby accelerating therapeutic translation for children with NPC disease. Experimental Adeno-associated viral (AAV)-mediated gene therapy in cats is ongoing although current technical limitations of gene delivery for diffuse neurodegenerative disorders may limit efficacy. For veterinary clinical practice, the work supports improved and early diagnosis, breeding management, and the development of future treatment of feline NPC disease and other hereditary ataxias.
Aim: Chiari malformation and syringomyelia are disorders of cerebrospinal fluid (CSF) dynamics, yet translation of mechanistic insights into patient care is limited by the low prevalence and heterogeneity of human disease, and by methodological constraints of
Methods: Retrospective MRI data from nine clinically normal CKCS were used to construct subject-specific craniospinal CSF geometries. CFD simulations yielded cardiac-driven oscillatory CSF motion under physiologically plausible boundary conditions, incorporating spinal compliance and zero net flow per cardiac cycle to characterize velocities and pressures.
Results: Simulations revealed pulsatile, laminar CSF flow with pronounced regional heterogeneity, dominant subarachnoid space (SAS) transport, complex flow patterns within the cerebral aqueduct, and a cycle-dependent pressure difference between the central canal and SAS with marked sensitivity to anatomical location and downstream spinal geometry.
Conclusion: These findings demonstrate that local anatomy strongly influences measured CSF velocities, limiting the translational reliability of isolated in vivo measurements while supporting CFD as a more robust framework for clinically meaningful interpretation. Establishing these baseline craniospinal flow characteristics provides a necessary reference for interpreting clinical CSF measurements and for extending computational analyses to dogs with Chiari-like malformation and syringomyelia.
Osteosarcoma is an aggressive bone malignancy that affects approximately 15,000 older, large breed dogs and 800 adolescent and young adult (AYA) humans annually in the US. Pet dogs with osteosarcoma are recognized as a highly relevant, immune-competent patient population which shares clinical, genomic, transcriptomic and immunologic tumor profiles with human osteosarcoma patients. Standard of care has not changed in over five decades and in both species consists of radical surgery and chemotherapy, which in the AYA population causes significant morbidity. Metastases to the lungs occurs in both species and carries a guarded prognosis. There is a clear need for more effective and less toxic treatments. Clinical observations and the survival advantage seen with tumors that are infiltrated with cytotoxic immune cells suggest that the immune system can control osteosarcoma, providing a sound rationale for immunotherapies that boost anti-tumor immunity and generate memory responses, to prevent relapse. The high incidence of osteosarcoma in dogs facilitates collection of tumor tissue for research and performance of clinical trials to advance our understanding of the disease and develop novel therapies, relevant to both species. This review summarizes the exploratory studies that have been performed, often in small cohorts of dogs with osteosarcoma, using tumor vaccines, adoptive cellular therapies, checkpoint inhibitors, and tumor microenvironment modifying strategies. The review also includes the early efforts that are being made to identify correlative biomarkers of response that may inform human clinical trial design.
Diagnosis and management of rare lung diseases remain challenging owing to their low incidence, heterogeneous manifestations, and limited therapeutic options. High-resolution computed tomography (CT) is central to imaging assessment, yet conventional visual interpretation is subjective and lacks good reproducibility. Recent advances in artificial intelligence, especially deep learning, provide new approaches for automated, quantitative and objective chest computed tomography image analysis. This review summarizes deep learning applications across core stages of CT imaging analysis for rare respiratory diseases: image reconstruction and generation, lesion segmentation and detection, disease classification and diagnosis, and treatment response and prognosis prediction. With typical cases of rare lung diseases, we illustrate that deep learning models enable accurate quantification of imaging biomarkers, elevated diagnostic accuracy and optimized outcome stratification. Despite notable progress, key challenges remain in model generalization, interpretability, and clinical validation.
Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive neuroendocrine disorder caused by mutations in DCAF17. We report the case of a non-consanguineous Chinese family with two affected siblings who presented with triangular facies, sparse hair, progressive gonadal dysfunction, hypothyroidism, and diabetes mellitus. Genetic testing identified a previously reported homozygous frameshift variant in DCAF17, NM_025000.4:c.1488_1489del (NP_079276.2:p.Arg496fs) (rs778488574), which was verified by Sanger sequencing. The patients received stratified, individualized, multidisciplinary interventions, including hormone replacement and metabolic therapy as part of a 5-year standardized post-diagnosis surveillance program initiated in 2021. This report expands the phenotypic spectrum of this DCAF17 variant, highlights the necessity of early DCAF17 genetic sequencing in patients with unexplained multiple endocrine dysfunctions and characteristic ectodermal/facial features, and provides practical stratified long-term monitoring strategies that combine endocrinological and neurological surveillance for clinical reference.