Search PubMed⌕ Search

Biomedical subjects

L Cartier

Publications and source records attributed to L Cartier.

81 records · Page 5Linked to original sources
PubMed1982

Prevention of mental retardation in offspring of hyperphenylalaninemic mothers.

Maternal hyperphenylalaninemia constitutes a potential hazard to the fetus for whom the risks of postnatal mental retardation, microcephaly, and congenital malformations are elevated. Preconception and intragestational dietary treatment can apparently improve the outcome of such pregnancies. In the absence of predictive mechanisms for pregnancies at risk and preventive measures involving reproductive counseling and treatment, there could be a rebound in the population frequency of mental retardation related to disorders of phenylalanine metabolism in subsequent generations. We describe a program serving a population of six million that includes screening, diagnosis, treatment, and counseling of the hyperphenylalaninemias. The program has recently added a simple dedicated register for males and females with hyperphenylalaninemia to supplement traditional methods for continuous surveillance of probands. We registered 153 patients: 43 females and 56 males with phenylketonuria, 23 females and 31 males with benign hyperphenylalaninemia, of which 22, 7, 27 and 5, respectively, had reached their 12th birthday in an 1981. Regional centers in the program provided counseling about the consequences of maternal hyperphenylalaninemia and the options to prevent them. No family has rejected the principle or fact of the Register and its goals.

Adolescent↗
PubMed1980

Subacute spongiform encephalopathy (Creutzfeldt-Jakob disease) associated with normal-pressure hydrocephalus Anatomoclinical report of one case.

The occurrence of two different dementing diseases, Creutzfeldt-Jakob disease and normal-pressure hydrocephalus in a single patient is described. The inefficacy of a shunt procedure in this particular case, and the need of a brain biopsy in patients with normal-pressure hydrocephalus before undergoing cerebrospinal fluid shunting are stressed. A purely coincidental occurrence, or a possible aetiopathogenic relationship between both diseases are postulated.

Adult↗
PubMed1975

[Clinical, anatomical and biophysical data on a case of encephalopathy with aluminum deposits].

A man presented at 27 years of age, the first signs of a progressive neurological and mental deterioration which eventually lead to his death at 37, from an intercurrent pulmonary infection. He was a severe alcoholic. The pathological examination of the brain revealed patchy demyelination and deposits of crystalline material, resembling so called calcifications. The biophysical examination showed the presence in the brain and other organs, of aluminum and phosphorus in all deposits, sometimes associated with iron, sulfur and calcium. Nothing in his past history suggests any contact with aluminum. Presumably this is a case of "generalized aluminosis", with the main clinical and pathological features manifesting in the central nervous system.

Adult↗
PubMedDate not supplied

Ultrastructural pathology of a Chilean case of tropical spastic paraparesis/human T-cell lymphotropic type I-associated myelopathy (TSP/HAM).

Human T-cell lymphotropic virus type I (HTLV-I), is the cause of endemic tropical spastic paraparesis (TSP) or HTLV-I-associated myelopathy (HAM). Because TSP/HAM is not a fatal disease, the neuropathology of this disease, albeit relatively well understood, is based on the examination of just a few incidental cases. Previously, we demonstrated peculiar lamellated structures, called "multilamellar bodies" (MLB). In this report, we present the ultrastructural neuropathology of a TSP/HAM case from Chile, with further detailed descriptions of MLB. It is tempting to suggest that MLB may represent specific ultrastructural markers of TSP/HAM. The pathology of the anterior and posterior horns was similar and was comprised of axonal degeneration, accompanied by extensive astrocytic gliosis. Lymphocytic infiltration, particularly observed as "cuffs" around blood vessels, was scattered among other cellular elements. Ultrastructurally, myelin sheaths were relatively well preserved, and some demyelinated but not remyelinated fibers were observed. Moreover, axons with abnormal accumulations of neurofilaments, suggestive of axonal degeneration, were detected. Several axons contained Hirano bodies. In many samples, glial processes replaced most of the remaining neuropil. In a few specimens of the anterior and posterior horns of the spinal cord, MLB were observed. These structures consisted of stacks of 30 to 40 electron-dense lamellae, which were interrupted by narrow electron-lucent spaces. All of the lamellae were immersed within an amorphous substance of intermediate density. Neurons of the dorsal root ganglia were basically normal except for increased lipofuscin accumulation. As in the spinal cord, myelinated axons were well preserved, but a few were demyelinated and surrounded by concentric arrays of Schwann cell membranes. Also, axons of the dorsal roots accumulated increased number of neurofilaments. Mast cells and Schwann cells were increased in number, the latter containing abundant pi granules and myelin fragments.

Astrocytes↗
PubMedDate not supplied

Large hepatic mesenchymal hamartoma leading to mid-trimester fetal demise.

This report describes a fetus with a large multiloculated cystic liver mass. Two small abdominal cysts were seen on ultrasound at 19 weeks of gestation but the patient was referred to us at 23 weeks, after the mass had grown to 8.0 x 5.6 x 7.0 cm, displacing intra-abdominal organs, heart and diaphragm. There was a small amount of ascites but no hydrops. There was polyhydramnios and a thick hyperechoic placenta. After detailed sonograms and MRI suggested the diagnosis of cystic mesenchymal hamartoma of the liver, cyst decompression was favored and consent was obtained. Unfortunately, absence of fetal cardiac activity was noted on the day of the planned intervention. Autopsy confirmed the diagnosis and demonstrated placental changes consistent with mesenchymal stem villous hyperplasia of the placenta. Large fetal cystic abdominal masses that compress the heart, lungs and other organs may benefit from prenatal decompression. This is the first report of cystic hamartoma of the liver apparent on second-trimester sonography, and the fourth time such a lesion is associated with fetal or neonatal death out of 11 cases diagnosed prenatally.

Adult↗