Atypical Prenatal Ultrasound Presentation and Neuropathological Findings in a Neonate With Alpha Thalassemia Major: A Case Report.

Alpha thalassemia major is a hemoglobinopathy caused by the inactivation or deletion of all 4 α-globin alleles. We describe a case of α-thalassemia major with atypical ultrasound and neuropathological findings. The mother had her first prenatal visit at 27 4/7 gestational weeks.

Identification of PD-L2, B7-H3 and CTLA-4 immune checkpoint proteins in genetic subtypes of meningioma.

Meningioma is the most common brain tumor in adults. Surgical resection remains the primary treatment. No chemotherapy exists.

GNE Myopathy With Novel Mutations and Pronounced Paraspinal Muscle Atrophy.

GNE myopathy is characterized by distal muscle weakness, and caused by recessive mutations in . Its onset is characteristically in young adulthood, although a broad spectrum of onset age is known to exist. A large number of mutations in are pathogenic and this clinical phenotype can be difficult to differentiate clinically from other late-onset myopathies.

Reduced antiretroviral drug efficacy and concentration in HIV-infected microglia contributes to viral persistence in brain.

Background: In patients with HIV/AIDS receiving antiretroviral therapy (ART), HIV-1 persistence in brain tissue is a vital and unanswered question. HIV-1 infects and replicates in resident microglia and trafficking macrophages within the brain although the impact of individual ART drugs on viral infection within these brain myeloid cells is unknown. Herein, the effects of contemporary ART drugs were investigated using in vitro and in vivo models of HIV-1 brain infection.

Precocious synapses in 13.5-week fetal holoprosencephalic cortex and cyclopean retina.

Background: Genetic programming of cerebral development involves tissue morphogenesis and also timing of developmental processes. Precocious synaptogenesis in the neocortical plate was previously demonstrated in 5 of 6 fetuses of 20-31 weeks gestation.

Materials And Methods: Neuropathological examination was performed of a 13-week-5-day fetus with trisomy-13, a lobar holoprosencephaly, hydrocephalus, cyclopia and absence of ears.

Multiple sclerosis: validation of MR imaging for quantification and detection of iron.

Purpose: To investigate the relationship between iron staining and magnetic resonance (MR) imaging measurements in postmortem subjects with multiple sclerosis (MS).

Materials And Methods: Institutional ethical approval was obtained, and informed consent was obtained from the subjects and/or their families. Four MR imaging methods based on transverse relaxation (T2 weighting, R2 mapping, and R2* mapping) and phase imaging were performed by using a 4.

Metagenomic and metabolomic characterization of rabies encephalitis: new insights into the treatment of an ancient disease.

Rabies virus (RV) infection is a fatal nervous system disorder. We describe a patient who died of rabies despite a neuroprotective intervention. Neuropathology showed neuronal loss with abundant RV antigen, genome, and Negri bodies, accompanied by intense neuroinflammation, including by CD8(+) T lymphocyte infiltrates.

Anti-NMDA receptor encephalitis. The disorder, the diagnosis and the immunobiology.

Anti-NMDAR encephalitis is a newly characterized syndrome with a progressive, predictable clinical course and the possibility of effective treatment. Accurate and timely diagnosis is critical to selection and implementation of treatments, and optimal patient outcomes. Outcomes are improved with early diagnosis via indirect immunofluorescence or cell-based assays, and the rapid and appropriate administration of immunosuppressant and anti-psychotic therapies.

Syphilitic myositis: a case-based review.

To present the clinical and pathological findings in patients presenting with myositis caused by syphilis. The literature is reviewed, and pathophysiologic factors discussed. A 49-year-old Caucasian heterosexual male with a known history of stable human immunodeficiency virus (HIV) and hepatitis C (HCV) co-infection, developed progressive muscle weakness over 10 weeks.

Oligodendroglial neoplasms with ganglioglioma-like maturation: a diagnostic pitfall.

Although oligodendroglial neoplasms are traditionally considered purely glial, increasing evidence suggests that they are capable of neuronal or neurocytic differentiation. Nevertheless, ganglioglioma-like foci (GGLF) have not been previously described. Herein, we report seven examples where the primary differential diagnosis was a ganglioglioma with an oligodendroglial component.

Fourier transform infrared spectromicroscopy and hierarchical cluster analysis of human meningiomas.

Limitations of conventional light microscopy in pathological diagnosis of brain tumors include subjective bias in interpretation and discordance of nomenclature. A study using mid-infrared (IR) spectromicroscopy was undertaken to determine whether meningiomas, a group of brain tumors prone to recurrence, could be identified by the unique spectral 'fingerprints' of their chemical composition. Paired, thin (5-microm) cryosections of snap-frozen human meningioma tumor samples removed at elective surgery were mounted on glass (hematoxylin and eosin-stained tissue section) and infrared (unstained tissue section) reflectance slides, respectively.

Temporal artery biopsy for giant cell arteritis.

Objective: To evaluate the influence of temporal artery biopsy (TAB) techniques on establishing a diagnosis of giant cell arteritis (GCA).

Methods: A retrospective review of 141 TAB pathology records from 1996 to 2002 was conducted. Histopathology slides on 136 TAB were reviewed by a single, independent, blinded pathologist.

Expression of N-myristoyltransferase in human brain tumors.

N-myristoylation is a process of covalent irreversible protein modification that promotes association of proteins with membranes. Based on our previous findings of elevated N-myristoyltransferase (NMT) activity in colonic epithelial neoplasms that appears at an early stage in colonic carcinogenesis, together with elevated NMT expression in human colorectal and gallbladder carcinomas, we investigated NMT activity and protein expression of NMT1 and NMT2 in human brain tumors and documented elevated NMT activity and higher protein expressions. For the first time, we have demonstrated that NMT has the potential to be used as a marker of human brain tumors.

Coxiella burnetii seropositivity in parturient women is associated with adverse pregnancy outcomes.

Objective: We conducted a cohort study of parturient women in an area with endemic Q fever infection to determine whether those seropositive for Coxiella burnetii had evidence of adverse birth outcomes.

Study Design: From June 1997 to November 1998, the cord blood of all women delivered at our health center was tested for antibodies to C burnetii by indirect immunofluorescence antibody test by using purified whole cell strain Nine Mile antigens. A titer of 1:8 or greater to either phase I or phase II antigens was considered seropositive.

T-cell/periodic acid-Schiff stain: a useful tool in the evaluation of tubulointerstitial infiltrates as a component of renal allograft rejection.

Distinguishing between tubulitis and tubulointerstitial mononuclear cell infiltrates and determining the severity of tubulitis are critical components of diagnosing and grading renal allograft rejection using the 1993 Banff schema, the revised 1997 Banff schema, or the Cooperative Clinical Trials in Transplantation grading system. We describe a novel staining method, the T-PAS stain (CD3 and periodic acid-Schiff), which removes some of the subjectivity in the evaluation of tubulointerstitial infiltrates in renal allograft biopsies. The method simply combines two routine stains, immunoperoxidase staining for T cells (CD3) and periodic acid-Schiff (PAS) staining for tubular basement membrane, on the same section.

Hypothalamic neurocytoma with vasopressin immunoreactivity: Immunohistochemical and ultrastructural observations.

Hypothalamic tumors of neuronal derivation are rare. We describe the case of a 55-year-old woman with visual disturbances who was found by magnetic resonance imaging (MRI) to have a sellar and suprasellar tumor. She underwent subtotal surgical resection by a transsphe-noidal approach.