In this review, we discuss the clinical and radiologic findings of small bowel diverticulosis, which is infrequently encountered during practice and far less common than colonic diverticulosis. Small bowel diverticulosis can present with a range of emergent symptomatic complications including diverticulitis, perforation, or hemorrhage. Here, we focus on the clinical features, pathogenesis, radiologic findings, and treatment of small bowel diverticulitis. Although not routinely considered in the differential diagnosis of an acute abdomen, prospective radiologic diagnosis of small bowel diverticulitis is important and can lead to conservative treatment thus preventing unnecessary exploratory laparotomy.
Tay-Sachs Disease (TSD) is an inherited neurological disorder caused by deficiency of hexosaminidase A (HexA). Preclinical work demonstrated safety and efficacy of CNS gene therapy using AAVrh8-HEXA/HEXB. Here we describe an expanded access trial in two patients with infantile TSD (IND 18225).Case TSD-001 demonstrated neurodevelopmental regression by 8 months of age and severe seizures by 1 year was treated at 30 months. An equimolar mix of AAVrh8-HEXA and AAVrh8-HEXB (now AXO-AAV-GM2) was administered intrathecally (IT), with 75% of the dose (1x10 14 vg) delivered to the cisterna magna and 25% at the thoraco-lumbar junction. The second patient (TSD-002) was treated at 7 months of age with 4•2x10 13 vg by a combination of bilateral thalamic (0•18 mL; 1•5x10 12 vg per thalamus), and IT infusion (3•9x10 13 vg). Both patients underwent immunosuppression with sirolimus, corticosteroids, and rituximab.Injection procedures were well tolerated and have shown no vector-related adverse events to date. CSF HexA activity nearly doubled from baseline and remained stable. In TSD-002 (now 16 months of age), MRI showed stabilization of disease by 3 months post-injection; there now appeared to temporarily deviate from the natural history of infantile TSD but declined again 6 months post-treatment. TSD-001 (now 4.5 years of age remains seizure-free on the same anticonvulsant therapy as pre-therapy, but TSD-002 developed seizures between 13 and 17 months post-treatment (by 2 years of age).Administration of AXO-AAV-GM2 by IT and thalamic injections was safe, HexA activity increased in CSF and ongoing myelination was apparent in the younger patient treated at an early symptomatic stage. This study provides early safety and proof-of-concept in humans for treatment of TSD patients by AAV gene therapy.
For 38.3% of patients needing facial surgery, descriptors used in the radiologic and surgery reports differed. Speaking a common language can potentially improve communication between the radiology and surgery services and can help expedite management of cases requiring surgery.
Vascular thrombosis occurs commonly in cancer patients. Once the diagnosis of thrombosis is established, it is important to characterize the nature of thrombus, tumoural versus bland, as each have a different prognosis, clinical significance, and management. This review paper discusses the imaging spectrum of tumour thrombus and its clinical significance emphasizing the role of imaging in differentiating tumour from bland thrombus.
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