A young boy with rash, arthritis, and developmental delay: Monogenic lupus due to DNASE2 gene defect.

Monogenic causes are increasingly being recognized in patients with lupus, especially in early-onset disease. We herein report a boy with a novel mutation in the DNase 2 (DNASE2) gene presenting with monogenic lupus. A 6-year-old boy with a global developmental delay with microcephaly presented with chronic febrile illness with anemia, rash, polyarthritis, renal involvement, and hepatosplenomegaly. Laboratory investigations revealed positive antinuclear antibody, high anti-dsDNA antibody titers, hypocomplementemia, hypergammaglobulinemia, nephrotic range proteinuria, and diffuse proliferative glomerulonephritis. Magnetic resonance imaging of brain showed altered signal intensity in subcortical white matter in bilateral fronto-parieto-temporal lobes. Targeted next-generation sequencing revealed a novel pathogenic variant in DNASE2. He was treated with oral prednisolone, mycophenolate mofetil, cyclosporine, and hydroxychloroquine and is doing well on follow up. DNASE2 deficiency has been reported as a rare genetic cause of monogenic lupus. DNASE2 deficiency should be suspected in patients with early-onset lupus with polyarthritis, erythematous rash, and neurological involvement.

Transradial approach in neurointervention: Part-I: Patient selection, preparation, and access site considerations.

Transradial access (TRA) is gradually getting attention in neurointervention radiology. Neurointerventionists now understand its advantages such as lesser complications, short hospital stay, and better patient satisfaction than transfemoral access. This review aims to provide a comprehensive approach for the interventionist to get familiar with the TRA. In this first part of the review, we will focus on patient selection, preparation, and access-related issues of a standard TRA.

Adapting to transradial approach in cerebral angiography: Factors influencing successful cannulation.

BACKGROUND: To evaluate factors that influence the successful cannulation of intracranial vessels using a transradial approach. METHODS: A total of 61 transradial diagnostic angiograms were evaluated in a tertiary care center from July 2020 to December 2021. We evaluated the learning curve and aortic arch vessel factors that may influence the cannulation of intracranial major vessels using a transradial approach. RESULTS: Learning curve for the procedure was established after 21 cases. We were successful in cannulating the supra-aortic arteries except in 4 cases where we were unable to cannulate the left VA (vertebral artery). Significant positive correlation was seen between time to Sim (Simmons curve) formation and aortic arch diameter (p = .002). Significant positive correlation was also seen between left VA take-off angle and time to cannulate left VA (p = .001) and negative correlation was noted between left CCA (common carotid artery) take-off angle and time to cannulate left CCA (p = .001). CONCLUSION: Transradial approach is a feasible and safe approach for performing cerebral angiography. Multiple factors can influence the procedure time and successful cannulation of intracranial vessels. With the availability of radial specific hardware in the future, procedural success and time taken to complete the procedure may improve.

IgA Nephropathy with Posterior Reversible Encephalopathy with Spinal Cord Involvement in a Young Male: A Case Report.

Posterior reversible encephalopathy syndrome (PRES) is a clinico-radiological phenomenon commonly associated with kidney diseases, especially chronic kidney disease. A consequence of endothelial dysfunction, PRES is usually associated with uncontrolled blood pressures and can rarely have atypical radiological findings involving the brain stem and spinal cord, called posterior reversible encephalopathy with spinal cord involvement (PRES-SCI). These atypical features may be confused with other etiologies causing a delay in diagnosis and management. We describe a young male patient who presented with neurological symptoms suggestive of PRES; however, the atypical radiological findings along with concomitant rapidly progressive glomerulonephritis led to a diagnostic dilemma. Repeat neuro-imaging after appropriate blood pressure control showed disappearance of the lesions confirming the diagnosis of PRES-SCI, and kidney biopsy showed advanced IgA nephropathy. Knowledge of atypical features of PRES is crucial amongst nephrologists as it is a common association with kidney disease and prompt identification and management avoid irreversible sequelae and unnecessary investigations.

The assessment of sagittal changes with twin block appliance in patients with decelerating growth phase.

INTRODUCTION: The main reason for seeking orthodontic treatment for Class II malocclusions is aesthetic improvement. Growth modification treatment procedures offer better results for a patient with significant potential growth. AIM: The aim of this cephalometric clinical study was to distinguish skeletal and dental corrections on skeletal class II division I growing subjects with Twin Block therapy (TB) and the changes were assessed using SO-analysis by Pancherz. MATERIALS AND METHODS: Strict diagnostic protocol viz. growing individuals with horizontal growth pattern, skeletal class II due to retrognathic mandible with positive VTO, bilateral class II molar relation, minimal crowding in either arch or overjet more than 5mm was used. Out of 28 selected cases,17 patients received TB therapy and 11 patients were maintained as control group. Standard removable TB appliances with lower incisor capping were delivered to treatment group. The horizontal advancement was about 8mm and 2-3mm vertical opening between the upper and lower central incisors were maintained for all the cases. The mean time interval between the initial (T1)and post treatment (T2) cephalograms of Twin-Block group was 11 month,with a range of 8 month to 13 month. In the control group, the mean time interval between the first (C1)and second (C2) cephalometric films was 12 month,with a range of 10 month to 14 month.T1and T2 cephalograms were traced and S-O analysis was used to segregate dental and skeletal effects. STATISTICAL ANALYSIS: SPSS software was used for statistical analysis. RESULTS: Skeletal Changes: In this study, the mean movement of maxilla was 0.67mm which represents significant restriction of forward maxillary growth in contrast to control groups. Dental Changes: In this study the maxillary molars appear to move distally with a mean value of 0.13mm. Comparing this to the movement of maxillary jaw base itself, maxillary distal movement of molar is less. But still it contributes to Class II correction. CONCLUSION: The overjet reduction and molar relation correction are more skeletal in nature.