Nemaline myopathy in newly diagnosed systemic lupus erythematosus and Sjögren's overlap syndrome complicated by macrophage activation syndrome.

Background: Nemaline myopathies are congenital or acquired muscle disorders that typically present in childhood but can occasionally occur in adults with underlying malignant, infectious or autoimmune disorders. There is a great genetic heterogeneity as well as clinical variability among the disease.

Case Presentation: Here, we present a case of nemaline myopathy in a young woman who was newly diagnosed with systemic lupus erythematosus (SLE) and Sjögren's overlap syndrome complicated by macrophage activation syndrome (MAS).

An unusual presentation of primary pulmonary extranodal marginal zone lymphoma of mucosal associated lymphoid tissue: An autopsy case report.

A 40 year old female with no documented medical history presented to the Emergency Department with several days of lethargy and altered mental status. She was found to be anemic, thrombocytopenic, and hypotensive. The patient was found to be in severe metabolic acidosis, became bradycardic, and quickly deteriorated.

Non-invasive gene targeting to the fetal brain after intravenous administration and transplacental transfer of plasmid DNA using PEGylated immunoliposomes.

Research was undertaken to establish transplacental delivery of active genes to fetal brain by a non-viral vector, antibody-specific targeted therapeutic procedure. PEGylated immunoliposomes (PILs) containing firefly luciferase DNA under the influence of the SV40 promoter injected intravenously into near-term pregnant mice produced luminometric evidence of CNS tissue luciferase activity at 48-h post-injection in all newborn pups. In utero delivery of this pGL3 DNA was shown after a single i.

Intraspinal primitive neuroectodermal tumor in a man with neurofibromatosis type 1: Case report and review of the literature.

Background: The occurrence of primitive neuroectodermal tumors (PNET) in patients with neurofibromatosis type 1 (NF1) has only been reported in two other cases in English-Language literature. Owing to the rarity of intraspinal PNET and the extremely high gene mutation variability in NF1, there is currently no conclusive evidence to suggest that PNET is associated with NF1. Here, we report a case of intradural PNET in a patient with NF1.

Concurrent cerebral american trypanosomiasis and toxoplasmosis in a patient with AIDS.

We report a case of concurrent cerebral infection with Trypanosoma cruzi and Toxoplasma gondii in a patient with acquired immunodeficiency syndrome (AIDS). A 22-year-old El Salvadoran man initially improved during receipt of antitoxoplasmosis therapy, but he had rapidly progressive hemiplegia. Magnetic resonance imaging showed an abnormal finding in the left internal capsule, and cytological analysis of cerebrospinal fluid revealed T.

New systems for delivery of drugs to the brain in neurological disease.

The restricted or regulated entry of most blood-borne substances into the brain has been recognised for more than a century. The blood-brain barrier (BBB)-shielding function provided by endothelial cells is important in the treatment of neurological diseases because this exclusion of foreign substances also restricts entry of many potentially therapeutic agents into the brain. The recent identification of several neuroactive proteins of potential therapeutic value has highlighted the crucial need for effective and safe transcapillary delivery methods to the brain.

Coincident choroid plexus carcinoma and adrenocortical carcinoma with elevated p53 expression: a case report of an 18-month-old boy with no family history of cancer.

We describe a young patient with no known family history of cancer who presented at 18 months with 2 advanced primary tumors, choroid plexus carcinoma and adrenal cortical carcinoma. Immunohistochemical studies demonstrated high levels of nuclear p53 protein expression in both tumors, as well as in the adjacent normal-appearing adrenal cortical cell nuclei of the adrenal gland. The immunohistologic distribution of elevated p53 expression suggests that this individual has a de novo germline mutation affecting p53 gene expression.