Apoptosis-related proteins are potential markers of neonatal hypoxic-ischemic encephalopathy (HIE) injury.

Neonatal hypoxic-ischemic encephalopathy (HIE) causes high mortality and long-term morbidity rates. The magnitude of the neuronal damage depends on the duration and severity of the initial insult combined with the deleterious effects of reperfusion and apoptosis. Currently, a diagnosis of HIE is based largely on the neurological and histological findings.

Intermittent and recurrent episodes of subclinical hypothyroidism, central hypothyroidism and T3-toxicosis in an elderly woman.

Exogenous thyrotoxicosis is usually caused by ingestion of excessive amounts of thyroid hormone, which could be intentional or surreptitious (known as factitious thyrotoxicosis). Non-pharmacological exogenous thyrotoxicosis is an exceptional event. One example is alimentary thyrotoxicosis, which is caused by the ingestion of meat or sausage containing thyroid tissue, inadvertently mixed with traces of muscles and other tissues of the animal's neck (hamburger thyrotoxicosis).

Surgical considerations about amyloid goiter.

Amyloidosis is an uncommon syndrome consisting of a number of disorders having in common an extracellular deposit of fibrillary proteins. This results in functional and structural changes in the affected organs, depending on deposit location and severity. Amyloid infiltration of the thyroid gland may occur in 50% and up to 80% of patients with primary and secondary amyloidosis respectively.

Axonal and oligodendrocyte-localized IgM and IgG deposits in MS lesions.

Background: Recent findings support the important role of antibodies in multiple sclerosis (MS) physiopathology. Thus, local IgG synthesis is a hallmark of the disease, and intrathecal IgM synthesis associates with a poor disease outcome.

Methodology: The aim of this study was to investigate the presence of IgM and IgG in demyelinating lesions using high sensitivity immunohistochemistry techniques in necropsies from fourteen MS patients, four controls without neurological disease and four cases with non MS CNS inflammatory disease.

Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing.

Introduction: The aim of this study is to describe a new mutation in the LMNA gene diagnosed by whole exome sequencing.

Methods: A two-generation kindred with recessive limb-girdle muscular dystrophy was evaluated by exome sequencing of the proband's DNA.

Results: Exome sequencing disclosed 194,618 variants (170,196 SNPs, 8482 MNPs, 7466 insertions, 8307 deletions, and 167 mixed combinations); 71,328 were homozygotic and 123,290 were heterozygotic, with 11,753 non-synonymous, stop-gain, stop-loss, or frameshift mutations occurring in the coding region or nearby intronic region.

An off-target nucleostemin RNAi inhibits growth in human glioblastoma-derived cancer stem cells.

Glioblastomas (GBM) may contain a variable proportion of active cancer stem cells (CSCs) capable of self-renewal, of aggregating into CD133(+) neurospheres, and to develop intracranial tumors that phenocopy the original ones. We hypothesized that nucleostemin may contribute to cancer stem cell biology as these cells share characteristics with normal stem cells. Here we report that nucleostemin is expressed in GBM-CSCs isolated from patient samples, and that its expression, conversely to what it has been described for ordinary stem cells, does not disappear when cells are differentiated.

Eukaryotic initiation factors (eIF) 2alpha and 4E expression, localization, and phosphorylation in brain tumors.

Increased protein synthesis is regulated, in part, by two eukaryotic translation initiation factors (eIFs): eIF4E and eIF2alpha. One or both of these factors are often overexpressed in several types of cancer cells; however, no data are available at present regarding eIF4E and eIF2alpha levels in brain tumors. In this study, we analyzed the expression, subcellular localization and phosphorylation states of eIF4E and eIF2alpha in 64 brain tumors (26 meningiomas, 16 oligodendroglial tumors, and 22 astrocytomas) and investigated the correlation with the expression of MIB-1, p53, and cyclin D1 proteins as well.

A new antigen retrieval technique for human brain tissue.

Immunohistochemical staining of tissues is a powerful tool used to delineate the presence or absence of an antigen. During the last 30 years, antigen visualization in human brain tissue has been significantly limited by the masking effect of fixatives. In the present study, we have used a new method for antigen retrieval in formalin-fixed human brain tissue and examined the effectiveness of this protocol to reveal masked antigens in tissues with both short and long formalin fixation times.

Psammomatoid ossifying fibromas: immunohistochemical analysis and differential diagnosis with psammomatous meningiomas of craniofacial bones.

Objective: To clarify the role of immunohistochemistry in the diagnosis of psammomatoid ossifying fibroma (PSOF), conventional cemento-ossifying fibroma (COF), and psammomatous meningioma (PM) of the craniofacial skeleton.

Study Design: The histology and immunohistochemistry of 4 PSOFs, 6 COFs, and 7 PMs was studied. Antibodies included EMA, cytokeratins, smooth muscle actin (SMA), desmin, vimentin, CD34, CD10, S-100 protein, and glial fibrillary acidic protein (GFAP).

Type 2 diabetes mellitus, its treatment and risk for lymphoma.

In this study, we have investigated a potential association between Type 2 diabetes mellitus and its treatment with the risk of lymphoma. Here, we report on 565 incident lymphoma (non-Hodgkin and Hodgkin), multiple myeloma, and chronic lymphocytic leukemia cases and 601 hospital controls in a Spanish multicentric case-control study. Information on diabetes mellitus diagnosis and treatment was obtained through personal interview together with information on other known or putative risk factors for lymphoma.

Occupational exposure to immunologically active agents and risk for lymphoma.

Objectives: We evaluated whether occupational exposure to high molecular weight agents that are associated with asthma and that act predominantly through an immunoglobulin E (IgE)-dependent hypersensitivity mechanism is also associated with risk for specific lymphoma types.

Methods: The Spanish lymphoma case-control study includes 519 newly diagnosed cases of lymphoid neoplasms and 554 hospital controls ages 20 to 80 years. Lymphomas were histologically or cytologically confirmed and classified according to the WHO classification.

CpG island hypermethylation of the DNA repair enzyme methyltransferase predicts response to temozolomide in primary gliomas.

Purpose: The DNA repair enzyme O(6)-methylguanine DNA methyltransferase (MGMT) inhibits the killing of tumor cells by alkylating agents, and its loss in cancer cells is associated with hypermethylation of the MGMT CpG island. Thus, methylation of MGMT has been correlated with the clinical response to 1,3-bis(2-chloroethyl)-1-nitrosourea (BCNU) in primary gliomas. Here, we investigate whether the presence of MGMT methylation in gliomas is also a good predictor of response to another emergent alkylating agent, temozolomide.

Focal monophasic demyelinating leukoencephalopathy in advanced HIV infection.

A multiple sclerosis (MS)-like illness has been reported in human immunodeficiency virus (HIV)-infected patients, usually in the early stages of HIV infection. We report 3 patients with advanced HIV infection (CD4 lymphocyte count under 200/mm(3)) presenting with monophasic focal leukoencephalopathy, in whom biopsy demonstrated demyelinating lesions compatible with acute MS lesions. In 1 patient, recently started on highly active antiretroviral therapy, MS-like disease could represent an immune reconstitution syndrome.

Helicobacter pylori and malignant lymphoma in Spain.

Unlabelled: Helicobacter pylori has been associated with gastric adenocarcinoma and gastric lymphoma. We report on the systematic evaluation of serologic detection of H. pylori in a lymphoma case-control study.

Celiac disease and lymphoma risk: a multicentric case--control study in Spain.

Celiac disease is a highly prevalent condition frequently misdiagnosed because of heterogeneity of the clinical symptoms. It is well recognized that enteropathy-associated T-cell lymphoma is an uncommon lymphoma type linked to celiac disease; it has also been suggested that other types of lymphomas may be associated with celiac disease. Our aim was to estimate the risk of all lymphoma associated with celiac disease.

Lack of serological evidence for an association between simian virus 40 and lymphoma.

Recent studies have implicated simian virus 40 (SV40) in non-Hodgkin's lymphomas based on detection of SV40 DNA sequences. We employed a virus-like-particle (VLP)-based enzyme immunoassay for antibodies to SV40 to test sera from 520 lymphoma cases and 587 controls in Spain. The SV40 seroprevalence was 9.