Neuronal markers in non-neuronal tissues.

Many proteins first identified in the nervous system were also found to be expressed elsewhere in the body. The text reviews some of these 'neuronal' markers and delineates intersections between nervous and non-nervous tissues on the structural and functional level. Examples are given for nuclear antigens, cytosolic, cytoskeletal and membrane bound proteins, neurotrophic factors and developmental antigens.

Novel mutations and repeated findings of mutations in familial Alzheimer disease.

Twenty-one unrelated patients with a history of suspected familial Alzheimer disease (FAD) were screened for mutations in PSEN1, PSEN2, and APP, the known FAD genes encoding the presenilins (PS1 and PS2) and the amyloid precursor protein (APP). The mutation detection rate was 57%. Of the nine pathogenic mutations found in 12 cases, three were in APP, one in PSEN2, and five in PSEN1, including two novel Greek mutations (L113Q and N135S).

Clinical value of endometrial pinopodes detection in artificial donation cycles.

The aim of the study was to investigate the clinical value of pinopode detection in women with a history of multiple implantation failures after participation in assisted reproduction programmes. Forty-six women with primary infertility, three or more previous implantation failures in assisted reproduction programmes and indication for the use of donated oocytes underwent a mock cycle of endometrial preparation, based on a standard protocol. Endometrial samples were taken on days 6 and 8 of progesterone administration, and were examined under scanning electron microscope for detection and evaluation of pinopodes.

Histomorphologic examination of skeletal muscle preparations does not differentiate between malignant hyperthermia-susceptible and -normal patients.

Background: It has been suggested that malignant hyperthermia (MH) can be diagnosed by specific myopathologic alterations. The purpose of this study was to investigate whether there are characteristic myopathologic changes in skeletal muscles of MH-susceptible (MHS) compared with MH-normal (MHN) patients.

Methods: Four hundred forty patients with clinical suspicion of MH were classified as MHN, MH equivocal (MHE), or MHS by the in vitro contracture test with halothane and caffeine.

CD44 expression and tumour cell density correlate with response to tamoxifen/carboplatin chemotherapy in glioblastomas.

In order to identify response predictors for a post-operative glioblastoma therapy consisting of tamoxifen, carboplatin and radiotherapy, expression of 12 antigens was evaluated in 36 newly diagnosed tumours and 13 recurrences. Results were correlated with the clinical course of the disease. Antigen expression was assessed immunohistochemically for CD44s, TGF-beta2, TGF-alpha, progesterone receptor, estrogen receptor, EGFR, urokinase, urokinase inhibitor 1, CD87, p53 protein and Ki-67.

Comparison of embryo transfer on day 2, day 3, and day 6: a prospective randomized study.

A prospective randomized study of 243 embryo transfers revealed that the use of blastocysts in assisted reproductive technology is not more effective than the use of day 2 and day 3 embryos.

Sudden death in a 35-year-old man with occult malformation of the brain and aseptic meningitis.

A 35-year-old man was found dead by his wife. He was reported to have had symptoms of a common cold the week preceding his death. The medicolegal autopsy yielded signs of central dysregulation (ectasia of the urinary bladder and rectum, dystelectasis of the lungs) together with marked brain edema and fresh bite marks on the tongue.

September 2002: 24-year-old female with a 6-month history of seizures.

The September 2002 COM. A 24-year-old female presented with a history of 3 generalized seizures, the first of which had occurred 6 months before admission. Her neurological examination was normal, but upon admission her MRI showed a small cystic lesion in the left parieto-occipital region.

Sudden death resulting from epidermoid cyst of the brain.

Epidermoid cysts of the brain are rare tumor-like lesions, most often of maldevelopmental origin. They are benign in nature, causing symptoms depending on their localization. Surgical resection leads to excellent results.

Polyneuropathy in neurofibromatosis 2: clinical findings, molecular genetics and neuropathological alterations in sural nerve biopsy specimens.

Neurofibromatosis 2 (NF2) is an autosomal dominant disease characterised by development of tumours in the central and peripheral nervous system. Some NF2 patients develop acro-distal sensory motor polyneuropathy that can hardly be explained by the tumour burden alone. In the present study eight sural nerve biopsy specimens from seven NF2 patients suffering from polyneuropathy were investigated, data including clinical course of the disease, electrophysiological findings, teased fibre preparations, histopathological, morphometric, immunohistochemical, electron microscopic and molecular genetic findings.