Brain-derived textiloma post glioblastoma resection and application of oxidized regenerated cellulose: A pilot, bedside-to-bench, translational study.

Oxidized regenerated cellulose (ORC; marketed as Surgicel® and Tabotamp®) is routinely used as an intraoperative hemostatic agent. Rarely, residual ORC has been associated with a foreign body reaction generating cystic or granulomatous lesions (i.e.

Oncocytic Follicular Cell-Derived Thyroid Tumors With Papillary Growth Pattern: A Clinicopathologic Study of 32 Cases.

Context.—: Oncocytic thyroid tumors displaying a papillary growth pattern are rare and may cause diagnostic problems.

Objective.

Differentiation of intracranial Rosai-Dorfman histiocytosis from meningioma using MR perfusion.

Intracranial Rosai-Dorfman disease may be indistinguishable from meningioma. This distinction is essential, as they are treated very differently. We present two cases where perfusion imaging helped make this distinction, allowing one to be treated successfully without craniotomy.

Histopathology of Pituitary Lesions.

This article reviews the histopathology and classification of neoplasms that arise from the adenohypophysis (anterior pituitary), the neurohypophysis (posterior pituitary) as well as other common miscellaneous lesions that arise within or secondarily involve the pituitary gland.

Metastatic Pleomorphic Lobular Carcinoma of the Breast to the Hypothalamus Presenting as a Primary Pituitary Lesion Presenting 17 Years Later-Report of a Case and Review of the Literature.

Carcinomas metastatic to the brain are common, however, metastatic disease to the hypothalamic- pituitary region is uncommon and account for less than 3.6% of all resected malignant pituitary tumors. Most metastatic disease in that region derives from a lung or breast primary, with both ductal and lobular carcinoma reported.

Posterior mediastinal epithelioid leiomyosarcoma: Case report and literature review.

Epithelioid type leiomyosarcoma is rarely encountered outside of the abdomen or uterus. We present a case of posterior mediastinal leiomyosarcoma in a 45-year-old male with back pain and bilateral lower extremity weakness. Magnetic Resonance Imaging of the thoracic spine revealed a heterogeneous posterior mediastinal soft tissue mass infiltrating the vertebral body and epidural space with resultant spinal cord compression and edema.

Genotype phenotype analysis in a family carrying truncating mutations in the titin gene.

We report a family carrying a previously described truncating mutation, NM_001267550.2(TTN):c.107889del p.

Craniorachischisis with Exencephaly.

Neural tube defects can be as mild as spina bifida, to as severe as anencephaly, with only a fraction of these cases presenting as both craniorachischisis and exencephaly. The G3, P1011 mother was 25-years old, who at an estimated fetal gestational age of 17 weeks had a fetal diagnosis of anencephaly based on a sonogram, resulting in elective pregnancy termination. The female fetus had an open neural tube defect, consisting of craniorachischisis and exencephaly.

A Case of Reversible Infantile Respiratory Chain Deficiency Presenting With Hypotonia, Hyperammonemia, and Failure to Thrive.

Reversible infantile respiratory chain deficiency, previously termed reversible infantile cytochrome c oxidase (COX) deficiency myopathy, is a rare mitochondrial disorder that is characterized by severe hypotonia and generalized muscle weakness in infancy that is associated with lactic acidosis. Affected infants will spontaneously recover, if they survive the first months of life. Here, we present the case of a 4-week-old girl who initially presented with hyperammonemia, hypotonia, and failure to thrive, for which she was referred for genetic evaluation.

Post-Traumatic Pituitary Tumor Apoplexy After Closed Head Injury: Case Report and Review of the Literature.

Background: Head trauma is a rare inciting factor of pituitary apoplexy (PA); however, there is a clear temporal relationship between trauma and apoplexy, and this is the first reported case of PA after an assault.

Case Description: We present a rare case of a 63-year-old man who developed PA after sustaining a closed head injury from assault with a metal pole. The patient had a known pituitary tumor for which he had previously declined surgical resection.

Novel Mutation in Anoctamin 5 Gene Causing Limb-Girdle Muscular Dystrophy 2L.

We report a 49-year-old man who presented with a history of asymmetric weakness. His neurological examination and electromyogram testing suggested the presence of a myopathy. A muscle biopsy confirmed the presence of a myopathy with several lobulated, whorled and ring fibers, and it showed no evidence of inflammation.

An in vivo model of double-unit cord blood transplantation that correlates with clinical engraftment.

Double-unit cord blood transplantation (DCBT) appears to enhance engraftment despite sustained hematopoiesis usually being derived from a single unit. To investigate DCBT biology, in vitro and murine models were established using cells from 39 patient grafts. Mononuclear cells (MNCs) and CD34(+) cells from each unit alone and in DCB combination were assessed for colony-forming cell and cobblestone area-forming cell potential, and multilineage engraftment in NOD/SCID/IL2R-γ(null) mice.

Astrovirus encephalitis in boy with X-linked agammaglobulinemia.

Encephalitis is a major cause of death worldwide. Although >100 pathogens have been identified as causative agents, the pathogen is not determined for up to 75% of cases. This diagnostic failure impedes effective treatment and underscores the need for better tools and new approaches for detecting novel pathogens or determining new manifestations of known pathogens.

A third-pass genome scan in panic disorder: evidence for multiple susceptibility loci.

Background: Panic disorder (PD) is a common illness with a definite but "complex" genetic contribution and estimated heritability of 30-46%.

Methods: We report a genome scan in 120 multiplex PD pedigrees consisting of 1591 individuals of whom 992 were genotyped with 371 markers at an average spacing of 9cM. Parametric two-point, multipoint, and nonparametric analyses were performed using three PD models (Broad, Intermediate, Narrow) and allowing for homogeneity or heterogeneity.

Evidence for genetic linkage between a polymorphism in the adenosine 2A receptor and panic disorder.

Data from clinical and behavioral pharmacological studies have implicated adenosine in anxiety behaviors, while genetic studies have suggested that adenosine receptors may be associated with panic disorder. We have undertaken an analysis of several DNA sequence variations in the adenosine 2A receptor (ADORA2A) in a large sample of panic disorder pedigrees. Individuals from 70 panic disorder pedigrees, and 83 child-parent 'trios', were genotyped at five single-nucleotide polymorphisms (SNPs) in and near the ADORA2A gene and were analyzed for genetic linkage and association.

Further genetic evidence for a panic disorder syndrome mapping to chromosome 13q.

Substantial evidence supports that there is a genetic component to panic disorder (PD). Until recently, attempts at localizing genes for PD by using standard phenotypic data have not proven successful. Previous work suggests that a potential subtype of PD called the panic syndrome exists, and it is characterized by a number of medical conditions, most notably bladder/renal disorders.