Spinal muscular atrophy type 0 is the most severe phenotype of the disease, with patients presenting with contractures, weakness, and respiratory failure at birth, and is typically fatal within weeks. We describe the case of a patient with spinal muscular atrophy type 0 who was treated with both nusinersen and onasemnogene abeparvovec. She has made modest motor improvements since treatment initiation with a 30-point improvement in CHOP-INTEND score, and continues to make motor gains at age 13 months without regression of function, although she remains profoundly weak. Although she has had motor improvements, she has also had continued systemic complications from her spinal muscular atrophy, including chronic respiratory failure, dysphagia, congenital heart malformation, digit necrosis, and diffuse macular rash. This case highlights the challenges in treating those with more severe disease phenotypes and raises questions of how some systemic complications may respond to current SMN replacement therapies.

No abstract

Objective: To quantify adherence to recommended follow-up care among women in the Paracentral region of El Salvador who were diagnosed by cytology with high-grade squamous intraepithelial lesions (HSIL) of the cervix. Materials and methods: A retrospective chart review was conducted to determine follow-up in the first year after cytological diagnosis of high-grade cervical dysplasia (HSIL). A small sample of these women were also interviewed to determine barriers to care. Results: Patient charts were available for 99 study-eligible patients with HSIL. Only 44% (44/99) of women completed recommended follow-up. Among the 55 women who did not complete follow-up (56% of 99 reviewed), loss to follow-up occurred when women did not schedule a colposcopy appointment (61.8%), did not receive their cytology results (20%), did not return to the clinic to receive their biopsy results, (9.1%), or did not attend their scheduled colposcopy (1.8%). No other factors had a significant effect on adherence to recommended follow-up. An additional 7.3% did not complete their treatment within the one-year time frame designated by the study to represent completion of follow-up. Failure to follow-up among the 13 non-compliant women interviewed was due to lack of money (38%), appropriate referral (28%), and fear (15%). Conclusions: The likelihood of non-adherence increased with longer wait times for follow-up appointments. The data supports the need for systemic interventions to decrease wait time for colposcopy. Changes in both systems and infrastructure have been initiated in El Salvador in order to establish more reliable methods for efficient follow-up care. Further investigation of barriers to care at every point in the process of cervical cancer screening and treatment will highlight which steps require modification.