Search results for "POF"

Neuronal ceroid-lipofuscinosis--late-infantile or Jansky-Bielschowsky type--revisited.

1996

Among the now eight genetic types of neuronal ceroid-lipofuscinoses (NCL), CLN1 to CLN8, CLN2 is considered classic late-infantile NCL. It was originally described by Janský in a family of eight children with four of them affected [Janský J (1908) Sborn Lek 13:165-196] and, subsequently, by Bielschowsky in a family of three children each of whom was affected, and, hence, termed Janský-Bielschowsky type of NCL. Earlier, archival studies of Bielschowsky's original post-mortem tissue blocks had documented accumulation of autofluorescent lipopigments with a curvilinear ultrastructure. In a subsequent study, described here, immunohistochemical absence of the CLN2-related lysosomal enzyme tripept…

Electron microscopic studies on skin and lymphocytes in early juvenile neuronal ceroid-lipofuscinosis.

1987

Skin and lymphocytes of three patients with early juvenile neuronal ceroid-lipofuscinosis (NCL) were ultras trueturally investigated. Fingerprint profiles (FPP), isolated and I or mixed with curvilinear profiles (CLP), in various dermal cells and large, usually single lipopigments delineated by a trilaminar membrane and filled with a granular matrix, FPP and occasionally lipid droplets in lymphocytes were observed in all three patients. Characteristic lipopigments in lymphocytes are an important feature to differentiate between early juvenile NCL and late infantile and juvenile NCL.

An ultrastructural study on retinal neural and pigment epithelial cells in ovine neuronal ceroid-lipofuscinosis.

1990

Ovine neuronal ceroid-lipofuscinosis represents another well studied model for human neuronal ceroid-lipofuscinosis (NCL). Accumulation of abnormal lipopigments in various retinal neurons, and loss of photoreceptors are similar to the lesions in human juvenile NCL and indicate that the sheep is a suitable model in which to study the pathogenesis of both NCL lipopigment formation and retinopathia pigmentosa. However, this latter process is not as advanced in NCL-diseased sheep as in human patients but far more obvious than in canine NCL in which retinopathy cannot be unequivocally documented. Ovine NCL shares with canine NCL peculiar lamellar inclusions in retinal pigment epithelial cells wh…

Silver Impregnation of Alzheimer's Neurofibrillary Changes Counterstained for Basophilic Material and Lipofuscin Pigment

1988

A method is described in which selective silver staining of Alzheimer's neurofibrillary changes is combined with staining of cell nuclei, Nissl material, and lipofuscin granules. Formalin fixed, paraffin embedded sections of human autopsy tissue are silver stained according to a method proposed by Gallyas. Lipofuscin is stained by crotonaldehyde fuchsin following performic acid oxidation. Nissl substance is visualized by either Darrow red or gallocyanin-chrome alum staining. Architectonic units showing the specific pathology and the neuronal types prone to develop the neurofibrillary changes can be recognized using this technique.

Workshop on the genetic and molecular basis of the neuronal ceroid lipofuscinoses London, UK, 13–16 November 1997

1998

Incidence of neuronal ceroid-lipofuscinoses in West Germany: Variation of a method for studying autosomal recessive disorders

1992

The incidence of neuronal ceroid-lipofuscinoses (NCL) in West Germany was determined using a novel method which is applicable to other autosomal recessively inherited diseases. Questionnaires were sent to all pediatric departments (answer rate 189/276, 68%), schools for the blind (39/46, 85%), and neuropathological institutes (15/22, 68%). Diagnoses were accepted only when based on firm clinical and/or electron microscopic criteria; 207 such identified patients were sorted according to year of birth. Plotting the cumulative number of new cases per year against the year of birth resulted in a slightly S-shaped curve. Before the year 1962, the curve is relatively flat, probably due to ineffic…

Late infantile neuronal ceroid lipofuscinosis: Quantitative description of the clinical course in patients withCLN2 mutations

2002

We examined 26 individuals with clinical and electron microscopic signs of late infantile neuronal ceroid lipofuscinosis (LINCL). In 22 cases, we found both pathogenic alleles. Sixteen patients exclusively carried either one or a combination of the two common mutations R208X and IVS5-1G > C. In the remaining cases, four missense mutations could be detected, of which R127Q, N286S, and T353P represent novel, previously not described alleles. A clinical performance score was developed by rating motor, visual, and verbal functions and the incidence of cerebral seizures in 3-month intervals during the course of the disease. A Total Disability Score was derived by summing up the single scores for…

ALTERED RATIO BETWEEN AXON CALIBER AND MYELIN THICKNESS IN SURAL NERVES OF CHILDREN

1978

ABSTRACT Maturation of myelin sheaths in normal sural nerves of children proceeds more slowly than axon growth. This asynchronous development of axons and myelin sheaths results in a statistically significant change of the ratio between axon caliber and myelin thickness during normal development. Therefore, myelin thickness of individual nerve fibers must be related to the size of the axons as well as to the age of the individuals studied. Abnormalities of the relationship between myelin thickness and axon diameter (primary hypomyelination of large, or small, or all fibers) were clearly identified in cases with metachromatic leukodystrophy, KRABBE's, DEJERINE-SOTTAS’, COCKAYNE'S and SANFILI…

Posaconazole concentrations in the central nervous system

2008

more susceptible to the killing activity of caspofungin. This study is the first comparing caspofungin killing activity against the closely related species C. parapsilosis, C. orthopsilosis and C. metapsilosis. Killing curves, regardless of the medium used, showed a decreasing order of susceptibility to caspofungin: C. metapsilosis . C. orthopsilosis . C. parapsilosis. Based on high echinocandin MICs for C. parapsilosis sensu stricto, in the case of isolates identified as C. parapsilosis sensu lato low MICs of echinocandins may be regarded as an indicator that an isolate is in fact C. orthopsilosis or C. metapsilosis; in the case of isolates with low echinocandin MICs, DNA-based identificat…

Inhaled isoflurane via the anaesthetic conserving device versus propofol for sedation of invasively ventilated patients in intensive care units in Ge…

2021

Summary Background Previous studies indicate that isoflurane could be useful for the sedation of patients in the intensive care unit (ICU), but prospective studies evaluating isoflurane's efficacy have been small. The aim of this study was to test whether the sedation with isoflurane was non-inferior to sedation with propofol. Methods This phase 3, randomised, controlled, open-label non-inferiority trial evaluated the efficacy and safety of up to 54 h of isoflurane compared with propofol in adults (aged ≥18 years) who were invasively ventilated in ICUs in Germany (21 sites) and Slovenia (three sites). Patients were randomly assigned (1:1) to isoflurane inhalation via the Sedaconda anaesthet…