Background: Hemophilia requires a lifetime care for bleeding control and complications. Although patients diagnosed with hemophilia receive factor replacement, they also experience a variety of medical problems as they age. Elective surgery can be performed through appropriate factor replacement during and after surgery. However, for patients with inhibitors, this remains a problem to be overcome. Methods: Patients treated for congenital bleeding disorders between 2008 and 2021 were enrolled in this study. The patients were classified according to the type, severity, and presence of inhibitors. The patients underwent planned coagulation factor replacement depending on the type of surgery. Results: A total of 232 patients treated for congenital bleeding disorders were enrolled. Among them hemophilia A was most prevalent, followed by hemophilia B.In total, 78 of the patients underwent surgery, including 31 major and 55 minor surgeries. Orthopedic surgery was the most common surgery, and patients with inhibitors had significantly more postoperative hospitalization days. Nine patients were incidentally diagnosed. Twelve patients with hemophilia with inhibitors underwent surgery, and 6 of them experienced post-operative complications. Conclusion Proper surgical planning and monitoring with a multidisciplinary team will be required for appropriate perioperative management of patients with hemophilia, especially in patients with inhibitor and elderly hemophilia patients.

TGF-beta1 is well known to induce Ig germ-line alpha (GLalpha) transcription and subsequent IgA isotype class switching recombination (CSR). Homeodomain protein TG-interacting factor (TGIF) and E3-ubiquitin ligases TGIF interacting ubiquitin ligase 1 (Tiul1) are implicated in the negative regulation of TGF-beta signaling. In the present study, we investigated the roles of Tiul1 and TGIF in TGFbeta1-induced IgA CSR. We found that over-expression of Tiul1 decreased TGFbeta1-induced GLalpha promoter activity and strengthened the inhibitory effect of Smad7 on the promoter activity. Likewise, overexpression of TGIF also diminished GLalpha promoter activity and further strengthened the inhibitory effect of Tiul1, suggesting that Tiul1 and TGIF can down-regulate TGFbeta1-induced GLalpha expression. In parallel, overexpression of Tiul1 decreased the expression of endogenous IgA CSR-predicitive transcripts (GLT(alpha), PST(alpha), and CT(alpha)) and TGFbeta1-induced IgA secretion, but not GLT(gamma3) and IgG3 secretion. Here, over-expressed TGIF further strengthened the inhibitory effect of Tiul1. These results suggest that Tiul1 and TGIF act as negatively regulators in TGFbeta1-induced IgA isotype expression.
Down-Regulation ; Immunoglobulin A ; Immunoglobulin Class Switching ; Immunoglobulin G ; Ligases ; Recombination, Genetic ; Transforming Growth Factor beta ; Transforming Growth Factor beta1 ; Ubiquitin

We report an unusual case of adult minimal change nephrotic syndrome relapsed after 15-year of complete remission. In this case, the disease had occurred to the patient for the first time when he was 52 years old; relatively high age, and had been remitted with steroid therapy. After 15 years of complete remission, he visited our hospital with the symptoms of the generalized edema and the pitting edema of both lower extremities that occurred 15 days ago. Massive proteinuria(15, 865 mg/day) and hypoalbuminemia(1.7 g/dL) were detected. The pathologic evaluation of the biopsied specimen of the kidney showed the global sclerosis in 19% of glomeruli in light microscopic finding and the fusion of epithelial foot processes in electron microscopic finding. He was treated with pulse steroid therapy (methylprednisolone 500 mg/day iv for 3 days) and then, with oral prednisolone (60 mg/day). Generalized edema and proteinuria disappeared after 14 days of treatment, and there has been no relapse ever since. Adult-onset minimal change nephrotic syndrome relapses within 4 years after complete remission in 90 % of relapsed patients. The relapse after more than 5 years of complete remission, like this case, is very rare, especially in the case of late-onset disease. However, the possibility of relapse of the minimal change nephrotic syndrome after several years of its remission should be considered constantly and the long-term follow-up more than 10 years may be needed.
Adult ; Edema ; Follow-Up Studies ; Foot ; Humans ; Kidney ; Lower Extremity ; Middle Aged ; Nephrosis, Lipoid* ; Prednisolone ; Proteinuria ; Recurrence ; Sclerosis