DNA ligase IV deficiency is a rare disorder characterized by mutations in the LIG4 gene. Mutations in this gene cause a wide array of phenotypes, many of which are fatal early in life. We present an adolescent patient with heterozygous LIG4 mutations and the T-B-NK+ DNA ligase IV phenotype. Pelvic ultrasound and magnetic resonance imaging was completed to assess the patient's amenorrhea and delayed puberty, which demonstrated an atrophic cervix, distal vagina, and uterus without direct visualization of the ovaries. Early diagnosis of DNA ligase IV deficiency is important to minimize exposure to ionizing radiation from radiologic studies and preferentially utilize imaging studies that do not require ionizing radiation, such as ultrasonography and magnetic resonance imaging.

Introduction: In 2013, the Center for Disease Control (CDC) designated methicillin-resistant Staphylococcus aureus (MRSA) as a serious threat. In addition to its intrinsic virulence, MRSA has become resistant to numerous antibacterial agents. In many instances, mupirocin is used empirically to decolonize patients harboring MRSA to decrease the possibility of progression to disease. In vitro susceptibility information is critical to identify patients who would benefit from use of mupirocin for decolonization and treatment of infections caused by MRSA. Methods: One-hundred and sixty-three recent MRSA single patient clinical isolates were collected from the Clinical Microbiology Laboratory. In-vitro susceptibility testing was performed using E-test methodology for tigecycline, ceftaroline, daptomycin, vancomycin, linezolid, and mupirocin. Results: Of the 163 MRSA isolates tested, >99% demonstrated susceptibility to tigecycline, ceftaroline, daptomycin, vancomycin, and linezolid. Seventy (43%) had vancomycin MICs ≥ 1.5 µg/ml, twenty-four isolates (15%) were resistant to mupirocin, and three appeared to express mupirocin hetero-resistance. Conclusion: While antibiotic susceptibility to mupirocin is not routinely performed in clinical microbiology laboratories, the level of resistance to mupirocin identified in this surveillance study suggests that susceptibility testing should be added to routine MRSA panels.

Objective To evaluate belimumab addition to standard of care (SoC) in patents with refractory Idiopathic Inflammatory Myopathy (IIM). Methods We conducted a 40-week multicentre randomized, double-blind, placebo-controlled trial with 1:1 IV belimumab 10 mg/kg or placebo randomization and a 24-week open-label extension. Clinical responses were measured by the Definition of Improvement (DOI) and Total Improvement Score (TIS). Flow cytometry analyses were performed on available samples before randomization, at 24 and 60–64wk. Descriptive statistics, t test, Fisher’s exact test and ANOVA tests were used. Results 17 patients were randomized, 15 received ≥ 5 doses of belimumab or placebo and were included in the intention -to-treat analysis. More belimumab patients vs placebo attained TIS ≥ 40 (55.5% vs 33.3%; p=NS) and achieved DOI (33.3% vs 16.7%; p = NS) at Wk40 and Wk64; mean TIS was similar among groups. Two patients achieved major responses (TIS= 72.5) after Wk40 in the belimumab arm, none in the placebo arm. No improvement in placebo arm after switching to the open label phase was observed. There was no steroid-sparing effect. No new safety signals were detected. Although total B-cells were not reduced, belimumab induced naïve B-cells depletion while enhancing memory B cells number and frequency. Conclusion The study did not meet the primary end point and no statistically significant differences were observed in clinical responses between arms. More patients achieved sustained TIS ≥ 40 and reached DOI. Most patients who received belimumab longer than 40 weeks had clinical improvement. Phenotypic changes in B cell populations were not associated with clinical responses. Clinical trial registration number Clinicaltrials.gov, https://clinicaltrials.gov/, NCT02347891

Background We report a case of an adult female with a history of multifocal encephalomalacia and gliosis following multiple strokes confirmed by magnetic resonance imaging, who presented with neuropsychiatric symptomatology. Encephalomalacia and gliosis of the brain are pathological changes in brain tissue associated with cerebral vascular and traumatic injury, and can present with a variety of symptoms ranging from cognitive decline to psychosis. Neurological manifestations following a stroke are well-documented, but there are few reports of adults with psychiatric symptomatology in the setting of encephalomalacia and gliosis in the caudate nucleus following stroke. Herein we discuss the psychiatric symptom profile and management associated with this lesion, while emphasizing the importance of brain imaging to gain a deeper understanding of its correlation with psychiatric manifestations. Case presentation A 64-year-old female with a history of multiple strokes and psychiatric history of generalized anxiety disorder was admitted to an inpatient psychiatry unit due to a 3-month history of worsening anxiety, depression, and functioning. Brain imaging revealed a new-onset focus of encephalomalacia and gliosis of the body of the left caudate, consistent with a transient ischemic attack diagnosed 3–4 months prior to psychiatric hospitalization. While admitted, the patient was treated with risperidone, sertraline, trazodone, gabapentin, and lorazepam with improvement in symptoms of anxiety, mood, and functioning. Conclusions Brain imaging in psychiatry is typically used to differentiate organic or structural causes of psychiatric symptoms from functional disorders, but lesions in specific areas of the brain and their clinical correlates are not well-characterized. This case in particular provides support for the involvement of the caudate nucleus in the development of neuropsychiatric symptoms, and is important for understanding the psychopathology of neuropsychiatric disorders with potential to guide treatment for these patients.