Castanedamccartney1125

It is possible that the findings of SD-OCT and adaptive optics retinal camera are early changes associated with the accumulation of autophagosomes and/or phagosomes due to LAMP-2 dysfunction in the photoreceptors, eventually followed by outer retinal degeneration, such as thinning of both the photoreceptor and RPE layers at the fovea.

Danon disease is caused by a primary deficiency in lysosomal associated membrane protein 2 (LAMP-2), an important constituent of the lysosomal membrane that plays a crucial role in the process of autophagy. It is possible that the findings of SD-OCT and adaptive optics retinal camera are early changes associated with the accumulation of autophagosomes and/or phagosomes due to LAMP-2 dysfunction in the photoreceptors, eventually followed by outer retinal degeneration, such as thinning of both the photoreceptor and RPE layers at the fovea.

To report a surgical approach of combined vitrectomy, gas endotamponade and transscleral diode laser cyclopexy treatment for hypotony maculopathy induced by traumatic cyclodialysis.

A case of a 37-year-old male patient with decreased vision in his right eye due to hypotony maculopathy and 360° traumatic cyclodialysis is reported. Patient was initially treated conservatively with topical steroid + cycloplegic eye drops and repeated periocular corticosteroid injections with no improvement in the intraocular pressure and the anatomical defect. The patient underwent 23G pars plana vitrectomy with 20% SF6 gas endotamponade and supine position. Transscleral 810 nm laser burns were applied at 1.5 mm from the scleral limbus around the cornea in 2 confluent rows avoiding the horizontal meridians. Parameters employed were 700 - 1000 mW of power with a 2 seconds exposure in continuous-wave mode and postoperative supine positioning of the head was indicated.

Preoperative intraocular pressure improved from 2 mmHg torove the visual and anatomical outcomes in patients with hypotony maculopathy and 360° traumatic cyclodialysis.The possible impact of "late" alemtuzumab (administered on days -10 to -8) versus "early" alemtuzumab (-19 to -17) with respect to engraftment and acute/chronic graft-versus-host disease (GvHD) in a group of 25 pediatric patients with sickle cell disease undergoing bone marrow transplantation following conditioning with alemtuzumab, fludarabine, and melphalan is reported. The first 9 patients received "late" alemtuzumab followed by bone marrow transplantation from HLA-matched sibling donors. The next 16 patients undergoing matched sibling transplants received "early" alemtuzumab. In the "late" group, 1 patient (11%) developed acute GvHD. click here Six patients (67%) achieved sustained engraftment. Three patients (33%) experienced graft rejection, leading to termination of enrollment of patients on this regimen. In the "early" alemtuzumab group, acute and chronic GvHD developed in 43% and 25% patients, respectively. None of the patients experienced graft rejection in this group of patients. Three patients developed stable mixed chimerism and 13 patients demonstrated 100% donor chimerism at 1 year post-transplant and beyond. These results suggest a benefit with respect to engraftment of administering "early" versus "late" alemtuzumab in this reduced-intensity conditioning regimen, however, with the possible cost of an increase in acute, and possibly chronic GvHD.Wiskott-Aldrich syndrome (WAS) is a rare X-linked primary immunodeficiency disorder that is characterized by a triad of microthrombocytopenia, severe immunodeficiency, and eczema. We report the case of a 7-year-old male patient with chronic thrombocytopenia that was diagnosed as WAS after dilatation of the ascending aorta was noticed. WAS is rare, and it is a disease that requires high suspicion for diagnosis. We recommend periodic echocardiography and magnetic resonance imaging examinations to evaluate aortic aneurysms in children with WAS and that surgical intervention should not be delayed when aneurysm is detected.Mucormycosis is an invasive, life-threatening fungal infection that mainly affects immunocompromised hosts. We collected data of pediatric mucormycosis cases from all 7 Greek Hematology-Oncology Departments for the years 2008-2017. Six cases of invasive mucormycosis diagnosed during treatment for malignancies were included in the study. In 4 children (66%) mucormycosis occurred within the first 20 days after diagnosis of the underlying disease. Two cases were classified as proven mucormycosis and 4 as probable. The most frequently recorded species was Rhizopus arrhizus (2 patients), followed by Mucor spp (1), and Lichtheimia spp (1). All patients received liposomal amphotericin B. Combined antifungal treatment was used in 5 cases. Surgical excision was performed in 4 cases (66%). Two patients died at 6 and 12 months after the diagnosis, respectively, 1 (17%) because of mucormycosis. Our data suggest that mucormycosis may occur early after the initiation of intensive chemotherapy in children with malignancies.

To describe the perioperative opioid demand in a large population of patients undergoing lower extremity fracture fixation and to evaluate mental disorders such as substance abuse as risk factors for increased use.

Retrospective, observational SETTING National insurance claims databasePATIENTS/PARTICIPANTS 23,441 patients grouped by mental disorders such as depression, psychoses, alcohol abuse, tobacco abuse, drug abuse, pre-operative opioid filling undergoing operative treatment of lower extremity fractures (femoral shaft through ankle) between 2007 and 2017.

Operative treatment of lower extremity fractures.

The primary outcome was filled opioid prescription volume converted to oxycodone 5-mg pill equivalents. Secondary outcomes included the number of filled prescriptions and the risk of obtaining 2 or more opioid prescriptions.

Out of 23,441 patients, 16,618 (70.9%), 8,862 (37.8%), and 18,084 (77.1%) filled opioid prescriptions within 1-month pre-op to 90-days post-op, 3-months post-op to 1-year pon of levels of evidence.

To determine the usefulness of a validated trauma triage score to stratify post-discharge complications, secondary procedures, and functional outcomes after ankle fracture.

Retrospective cohort SETTING Level 1 trauma center PATIENTS Four hundred and fifteen patients ≥55 years old with 431 ankle fractures INTERVENTION Closed or open reduction MAIN OUTCOME MEASUREMENTS Score for Trauma Triage in Geriatric and Middle-Aged Patients (STTGMA), post-discharge complications, secondary operations, Foot Function Index (FFI, n=167) and Short Musculoskeletal Function Assessment (SMFA, n=165).

Mean age was 66 years, 38% were male, and 68% of fractures were secondary to ground level falls. Forty patients (9.6%) required an additional procedure, with implant removal most common (n=21, 5.1%), and 102 (25%) experienced a post-discharge complication. On multiple linear regression, STTGMA was not a significant independent predictor of complications or secondary procedures. Patients completed FFI and SMFA surveys a median 62 months (5.