Breensalinas6619

In addition, patients with sialidosis may present with ocular manifestations without systemic signs early in the disease course.Background Microcephaly and chorioretinopathy (MCCRP) is a rare neuro-ophthalmologic disorder that causes microcephaly and chorioretinopathy. In a recessive inheritance pattern, there are three types MCCRP1; MCCRP2 and MCCRP3. MCCRP3 results from pathogenic variants in the tubulin-gamma complex-associated protein 4 (TUBGCP4) gene.Materials and Methods This is a case report of a patient with a molecular diagnosis defined by mutations in the TUBGCP4 gene. Segregation analyses were carried out.Results The molecular investigation found two heterozygous variants c.1380 G > A (p.Trp460*) a novel nonsense variant, and c.1746 G > T (p Leu582=) a synonymous variant in TUBGCP4. The clinical phenotype was characterized by microcephaly, microphthalmia, chorioretinopathy, a punched-out retinal appearance, dysmorphic facial features, decreased visual acuity, and learning difficulties. The clinical features were similar to those described previously in children with MCCRP3. The proband also had additional features including centripetal obesity, stretch marks, acanthosis nigricans, scoliosis, and hypercholesterolemia. selleck compound These other features could be part of a ciliopathy syndrome.Conclusions MCCRP2 caused by pathogenic variants in PLK4 is well established as a ciliopathy disease. The role of TUBGCP4 is not well established in the cilium physiology. MCCRP3 may be part of the ciliopathy spectrum.Objective This study aims to describe the eligibility for biologic therapies for severe asthma (SA) in a cohort of patients attending the Program for Control of Asthma (ProAR) in Bahia, Brazil.Methods Data from SA patients (≥18 years old) attending the ProAR, that were included in a case-control study conducted from 2013 to 2015, were used to reassess patients according to a modified ERS/ATS 2014 SA criteria. Patients were then classified according to the eligibility for SA biological therapy based on current prescription labels.Results From 544 patients in the cohort, 531 (97.6%) were included and 172 (32.4%) were identified as SA patients according to the ERS/ATS 2014 modified criteria. Of these 172 patients, 69 (40.1%) were ineligible for any of the biologicals approved for asthma (omalizumab, mepolizumab, reslizumab and benralizumab), 60 (34.9%) patients were eligible for one of the biological therapies, and 10 (5.8%) patients were eligible for all biological therapies.Conclusions More than half of patients with SA were eligible for biologic therapy in our study, but none of them received this form of treatment. Almost half of them were not eligible to any of the approved biologics, however. The variability and overlap in patients' eligibility highlight the importance of evaluating each patient individually for a more personalized treatment approach. While there is a need to increase access for some of those eligible that may really need a biologic treatment, continuous efforts are required to develop alternatives to those who are not eligible.We retrospectively analyzed treatment patterns and healthcare costs among patients diagnosed with diffuse large B-cell lymphoma (DLBCL) during each line of therapy (LOT) using data from the IBM® MarketScan® Commercial and Medicare Supplemental Databases from January 2011 to May 2017. Patients were included if they had a diagnosis of DLBCL, ≥12 months of disease-free continuous enrollment prediagnosis, and ≥1 month of postdiagnosis follow-up. Of 2066 eligible patients receiving first-line treatment, 17% (n = 340) received second-line treatment; of these, 23% (n = 77) received third-line treatment. Mean healthcare expenditures (treatment duration) for first, second, and third LOTs were $111,314 (124.5 days), $88,472 (80.8 days), and $103,365 (70.9 days), respectively. When adjusted to 30-day period costs, first, second, and third LOT healthcare expenditures increased to $26,825, $32,857, and $43,854, respectively. Patients with newly diagnosed and relapsed/refractory DLBCL incur a significant cost burden (for payers), and such costs increase as patients proceed through subsequent LOTs.Maintenance therapy after first autologous transplant (autoSCT) improves progression-free survival (PFS) and overall survival (OS) in multiple myeloma (MM). However, efficacy of maintenance therapy after second autoSCT is unknown. We retrospectively evaluated outcomes of 111 adult MM patients who underwent second autoSCT between January 2000 and December 2018. Lenalidomide up to 15 mg daily or subcutaneous bortezomib 1.3 mg/m2 every 2 weeks was considered maintenance therapy. Outcomes were compared among three groups no-maintenance (n = 73), lenalidomide (n = 23), and bortezomib maintenance (n = 15). At a median follow-up of 58 months from second autoSCT for survival, 3-year PFS and OS for no-maintenance, lenalidomide, and bortezomib maintenance were 11.2%, 29.9%, and 0%, respectively; and 58.5%, 83.3%, and 67.5% respectively. Lenalidomide maintenance was associated with improved PFS (HR 0.46, p = 0.009) and OS (HR 0.25, p = 0.009) compared to no-maintenance. Lenalidomide maintenance therapy after second autoSCT appears to prolong PFS and OS.We aimed to investigate whether proteinuria in the first trimester of pregnancy in Familial Mediterranean fever (FMF) patients has an impact on pregnancy outcome and perinatal and neonatal outcome of pregnancies. A total of 66 pregnant with FMF were compared with healthy controls at the same gestational weeks. Patients with FMF had a higher antenatal hospitalisation rate (34.8% vs. 6.1%, respectively, p  less then  .01) and higher rate of 2 or more miscarriages. FMF patients with or without obstetric complications also had a similar amount of 24-h urine proteinuria in the first trimester. Patients on colchicine therapy during pregnancy had more frequent attacks in pregnancy (59.3% vs. 18.2%, respectively, p .012). The rates of preeclampsia, preterm delivery, foetal anomalies, small for gestation age neonates and primary caesarean rate were similar between groups. In conclusion; FMF had no significant impact on pregnancy. Neither attacks in pregnancy nor basal proteinuria were associated with adverse outcomes.