63 research outputs found
Successful Treatment of Enterocutaneous Fistula in a Hemodialysis Patient with Somatostatin
Although cysticercosis is the most common parasitic disease affecting the central nervous system, spinal cysticercosis is rare. A rare form of spinal cysticercosis involving the whole spinal canal is presented. A 45-year-old Korean male had a history of intracranial cysticercosis and showed progressive paraparesis. Spinal magnetic resonance scan showed multiple cysts compressing the spinal cord from C1 to L1. Three different levels (C1-2, T1-3, and T11-L1) required operation. Histopathological examination confirmed cysticercosis. The patient improved markedly after surgery
Primary catastrophic antiphospholipid syndrome in an 8 year-old girl
Antiphospholipid syndrome (APS) is a disease characterized by
recurrent arterial and venous thromboses. Rapidly progressive
multiple thromboses leading to multiorgan failure occur in less
than 1% of patients and named as catastrophic antiphospholipid
syndrome (CAPS). We, hereby, describe an 8 year-old-girl with
erythematous skin lesions progressing into purpura fulminans. The
patient developed CAPS with the findings including proteinuria,
microangiopathic hemolytic anemia, thrombocytopenia, arterial
and venous thromboses demonstrated on skin biopsies. She was
admitted to intensive care unit and received empirical antibiotics,
anticoagulants, antiaggregants, steroids and intravenous
immunoglobulins. The diagnosis of APS was confirmed by
positive lupus anticoagulants, elevated anti beta-2 glycoprotein IgG
and antiphospholipid IgG titers. Moreover, other than MTHFRA1298C,
MTHFR-C677T, factor V H1299R, beta fibrinogen-455
G>A heterozygosity indicating low risk for thrombophilia, no
infectious, rheumatological or malignant etiologies were identified.
Family history revealed Raynaud’s phenomenon in a sister,
interstitial lung disease, proteinuria and hematuria in paternal
grandmother in addition to lupus anticoagulant positivity in father
and 2 elder sisters. Her treatment included debridement of necrotic
skin tissue, grefting and local mesenchymal stem cell application
to upper thigh and lower leg region following oral azathioprine
administration
Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients
Paired box 1 (PAX1) deficiency has been reported in a small number of patients diagnosed with otofaciocervical syndrome type 2 (OFCS2). We described six new patients who demonstrated variable clinical penetrance. Reduced transcriptional activity of pathogenic variants confirmed partial or complete PAX1 deficiency. Thymic aplasia and hypoplasia were associated with impaired T cell immunity. Corrective treatment was required in 4/6 patients. Hematopoietic stem cell transplantation resulted in poor immune reconstitution with absent naïve T cells, contrasting with the superior recovery of T cell immunity after thymus transplantation. Normal ex vivo differentiation of PAX1-deficient CD34+ cells into mature T cells demonstrated the absence of a hematopoietic cell-intrinsic defect. New overlapping features with DiGeorge syndrome included primary hypoparathyroidism (n = 5) and congenital heart defects (n = 2), in line with PAX1 expression during early embryogenesis. Our results highlight new features of PAX1 deficiency, which are relevant to improving early diagnosis and identifying patients requiring corrective treatment
Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry
Activated phosphoinositide 3-kinase (PI3K) δ Syndrome (APDS), caused by autosomal dominant mutations in PIK3CD (APDS1) or PIK3R1 (APDS2), is a heterogeneous primary immunodeficiency. While initial cohort-descriptions summarized the spectrum of clinical and immunological manifestations, questions about long-term disease evolution and response to therapy remain. The prospective European Society for Immunodeficiencies (ESID)-APDS registry aims to characterize the disease course, identify outcome predictors, and evaluate treatment responses. So far, 77 patients have been recruited (51 APDS1, 26 APDS2). Analysis of disease evolution in the first 68 patients pinpoints the early occurrence of recurrent respiratory infections followed by chronic lymphoproliferation, gastrointestinal manifestations, and cytopenias. Although most manifestations occur by age 15, adult-onset and asymptomatic courses were documented. Bronchiectasis was observed in 24/40 APDS1 patients who received a CT-scan compared with 4/15 APDS2 patients. By age 20, half of the patients had received at least one immunosuppressant, but 2–3 lines of immunosuppressive therapy were not unusual before age 10. Response to rapamycin was rated by physician visual analog scale as good in 10, moderate in 9, and poor in 7. Lymphoproliferation showed the best response (8 complete, 11 partial, 6 no remission), while bowel inflammation (3 complete, 3 partial, 9 no remission) and cytopenia (3 complete, 2 partial, 9 no remission) responded less well. Hence, non-lymphoproliferative manifestations should be a key target for novel therapies. This report from the ESID-APDS registry provides comprehensive baseline documentation for a growing cohort that will be followed prospectively to establish prognostic factors and identify patients for treatment studies
Long-term follow-up of IPEX syndrome patients after different therapeutic strategies : an international multicenter retrospective study
Background: Immunodysregulation polyendocrinopathy enteropathy x-linked(IPEX) syndrome is a monogenic autoimmune disease caused by FOXP3 mutations. Because it is a rare disease, the natural history and response to treatments, including allogeneic hematopoietic stem cell transplantation (HSCT) and immunosuppression (IS), have not been thoroughly examined.
Objective: This analysis sought to evaluate disease onset, progression, and long-term outcome of the 2 main treatments in long-term IPEX survivors.
Methods: Clinical histories of 96 patients with a genetically proven IPEX syndrome were collected from 38 institutions worldwide and retrospectively analyzed. To investigate possible factors suitable to predict the outcome, an organ involvement (OI) scoring system was developed.
Results: We confirm neonatal onset with enteropathy, type 1 diabetes, and eczema. In addition, we found less common manifestations in delayed onset patients or during disease evolution. There is no correlation between the site of mutation and the disease course or outcome, and the same genotype can present with variable phenotypes. HSCT patients (n = 58) had a median follow-up of 2.7 years (range, 1 week-15 years). Patients receiving chronic IS (n 5 34) had a median follow-up of 4 years (range, 2 months-25 years). The overall survival after HSCT was 73.2% (95% CI, 59.4-83.0) and after IS was 65.1% (95% CI, 62.8-95.8). The pretreatment OI score was the only significant predictor of overall survival after transplant (P = .035) but not under IS.
Conclusions: Patients receiving chronic IS were hampered by disease recurrence or complications, impacting long-term.disease-free survival. When performed in patients with a low OI score, HSCT resulted in disease resolution with better quality of life, independent of age, donor source, or conditioning regimen
Two episodes of anuria and acute pulmonary edema in a losartan-treated patient with solitary kidney
Novel CLPB mutation in a patient with 3-methylglutaconic aciduria causing severe neurological involvement and congenital neutropenia
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