Integrated genomic, proteomic and cognitive assessment in Duchenne Muscular Dystrophy suggest astrocyte centric pathology.

Introduction: Documented Duchenne Muscular Dystrophy (DMD) biomarkers are confined to Caucasians and are poor indicators of cognitive difficulties and neuropsychological alterations.

Materials And Methods: This study correlates serum protein signatures with cognitive performance in DMD patients of South Asian origin. Study included 25 DMD patients aged 6-16 years.

Anterior clinoid mucocoele presenting as progressive fluctuating visual loss mimicking inflammatory optic neuropathy.

Optic nerve lesions usually produce monocular visual loss, and in compressive optic neuropathies, gradual vision loss is the more usual presentation. Mucocele in the anterior clinoid process is a rare cause of compressive optic neuropathy that can lead to monocular visual loss. A 19-year-old Sri Lankan girl presented with progressive, painless fluctuating right-sided monocular visual loss over 1-year duration.

Evidence of selected nephrotoxic elements in Sri Lankan human autopsy bone samples of patients with CKDu and controls.

Background: This article describes the analysis and interpretation of data relating to the presence of cadmium, lead, mercury and fluoride in human bone samples obtained from cadavers of patients dying of Chronic Kidney Disease of uncertain aetiology (CKDu) in a case-control study, which the authors believe to be the first in Sri Lanka.

Methods: This is a case-control study comparing selected nephrotoxins levels in autopsy samples of bones from persons confirmed to have died of CKDu, and who had lived in a CKDu hotspot and controls with no history of abnormal kidney functions who had lived in areas having a low prevalence of CKDu.

Results: The average age at death of the cases was 59.

Cold type autoimmune hemolytic anemia- a rare manifestation of infectious mononucleosis; serum ferritin as an important biomarker.

Background: Infectious mononucleosis is one of the main manifestations of Epstein - Barr virus, which is characterized by fever, tonsillar-pharyngitis, lymphadenopathy and atypical lymphocytes. Although 60% of patients with IMN develop cold type antibodies, clinically significant hemolytic anemia with a high ferritin level is very rare and validity of serum ferritin as an important biomarker has not been used frequently.

Case Presentation: 18-year-old girl presented with fever, malaise and sore throat with asymptomatic anemia, generalized lymphadenopathy, splenomegaly and mild hepatitis.