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Biomedical subjects

S Carpenter

Publications and source records attributed to S Carpenter.

At least 217 records · Page 12Linked to original sources
PubMed1979

Duchenne muscular dystrophy: plasma membrane loss initiates muscle cell necrosis unless it is repaired.

Study of biopsies from 30 boys with Duchenne muscular dystrophy suggests that necrosis of muscle cells is initiated by loss of plasma membrane, followed, after a short interval, by Z disc lysis and mitochondrial changes to constitute the picture of fully developed necrosis. Empty basal lamina tubes containing collagen indicated that regeneration may fail to occur. The tubes form a basis for collagen deposition. Evidence suggests that small patches of membrane loss can be repaired, though a slice of superficial cytoplasm is lost, and a piece of detached basal lamina results. The markedly hypercontracted fibres seen did not show features of necrosis.

Biopsy↗
PubMed1978

Pathological involvement of primary sensory neurons in Werdnig-Hoffmann disease.

Seven patients with the typical clinical picture and muscle biopsy findings of classical Werdnig-Hoffmann disease showed Wallerian degeneration in their biopsied sural nerves. In dorsal root ganglia of one patient there were residual nodules and several chromatolytic neurons. By electron microscopy the changes of chromatolysis were confirmed and found to be consistent with an axonal reaction. Involvement of the primary sensory neuron is probably a regular pathologic feature of Werdnig-Hoffmann disease. The type of abnormality suggests in initial failure of the axon distal to the nerve roots.

Axons↗
PubMed1978

Inclusion body myositis: a distinct variety of idiopathic inflammatory myopathy.

We report six cases of inclusion body myositis (IBM), a distinct but infrequently recognized inflammatory disease of skeletal muscle. Clinically, IBM differs from dermatomyositis and polymyositis. It lacks features of collagen-vascular disease, has a relatively benign and protracted course, frequently involves distal muscles, is found mainly in males, and does not improve with corticosteroid treatment. Electronmicroscopic demonstration of abnormal filaments in muscle cells is necessary for definite diagnosis, but IBM may be suspected by the finding on cryostat sections of numerous hematoxylinophilic granules in "lined" vacuoles in muscle cells. These correspond to whorls of cytomembranes. Although in dermatomyositis the capillary network is partly destroyed, in IBM it is usually augmented. A viral etiology of IBM has been suggested but remains unproven.

Adolescent↗
PubMed1978

Acromegaly and galactorrhea-amenorrhea with two pituitary adenomas secreting growth hormone or prolactin. A case report.

A prolactinoma was removed from a nulliparous woman who had acromegaly, galactorrhea-amenorrhea, elevated serum growth hormone and prolactin, and hypogonadotropinism. Postoperatively galactorrhea decreased and cyclic vaginal bleeding ensued; serum prolactin concentration was normal but growth hormone remained elevated and the acromegalic complex was unchanged, even after subsequently administered bromocriptine. At a second transsphenoidal operation, an adenoma of somatotropes was removed; improvement in symptoms and signs and normalisation of pituitary function, including growth hormone, followed. The possible presence of distinctly separate pituitary adenomas should be considered in patients with galactorrhea associated with acromegaly.

Acromegaly↗
PubMed1977

Identification of retinoyl complexes as the autofluorescent component of the neuronal storage material in Batten disease.

Cytosomes filled with intensely fluorescent material in the form of curvilinear bodies were isolated by density gradient centrifugation followed by pronase digestion from the cerebral cortex of a child who had died at age 7 from the late infantile form of Batten disease. Forty-three percent of the dry weight of the storage material was extracted by a mixture of chloroform and methanol, leaving a waterinsoluble amorphous fluorescent residue. Infrared spectroscopy, proton magnetic resonance spectrscopy, and mass spectrometry of this residue strongly suggested the presence of retinoyl polyenes linked to a small peptide. Base hydrolysis and methanolysis yielded retinoic acid and methyl retinoate, respectively. Ozonolysis yielded a product derived from the substituted cyclohexenyl ring of vitamin A. The results indicate that the fluorescent component of the neuronal storage material is a retinoyl complex and is not derived from peroxidized polyunsatured fatty acids as previously thought.

Brain↗
PubMed1977

The ultrastructural characteristics of the abnormal cytosomes in Batten-Kufs' disease.

Patients with Batten-Kufs' disease may be divided into three groups by electronmicroscopy of their storage deposits. In the first group, those characterized by curvilinear profiles, there is a strong correlation with a particular clinical syndrome, the late infantile form of the disease. In the second group, characterized by finger-print profiles, there is great diversity as to age and type of presentation. This is paralleled by diversity in the deposits. To the third group belongs the infantile form of the disease, as well as rare patients with later onset. Pathological diagnosis can be reliably, conveniently and consistently made from biopsy of skin by electronmicroscopy, and usually from biopsy of skeletal muscle as well.

Age Factors↗
PubMed1977

Juvenile dystonic lipidosis: an unusual form of neurovisceral storage disease.

An unusual neurovisceral lipid storage disorder in two unrelated juvenile patients manifested itself by dystonia and involuntary movements, with facial grimacing, dysarthria, gait difficulty, and impaired manual dexterity. Supranuclear paresis of vertical gaze and splenomegaly were present. Absent were seizures, major intellectual deterioration, spasticity, or blindness. Histiocytes showed lysosomal storage of various phospholipids, cholesterol, neutral lipids, and autofluorescent material. Appendiceal neurons showed only an increse of phospholipids by histochemistry. Neuronal deposits differed ultrastructurally from these in histiocytes. Leukocyte sphingomyelinase activity was normal. The nosology of this disease and its relationship to so-called juvenile types of Niemann-Pick disease is discussed. The primary metabolic defect in these patients remains unknown.

Adolescent↗
PubMed1977

Anophthalmos. Report of two cases.

Two infants were found to have bilateral anophthalmos and other congenital anomalies. Secondary anophthalmia was diagnosed in one patient who showed malformations of the brain and an absence of ocular tissues including the optic nerves. The other patient had degenerative (consecutive) anophthalmos; fragments of ocular tissues including the optic nerves were found in the orbits.

Abnormalities, Multiple↗
PubMed1976

The childhood type of dermatomyositis.

The childhood type fo dermatomyositis, which occurs in children and young adults, shows a specific constellation of pathologic changes in muscle. Capillary necrosis leads to capillary loss, generally starting on the periphery of muscle fascicles. Electron microscopy discloses undulating tubules in endothelial cells, lymphocytes, pericytes, and pseudosatellite cells. The muscle fiber damage is coextensive with capillary damage and probably results from progressive ischemia. The muscle cells, before atrophying, show mitochondrial elongation, Z disk streaming, focal myofibrillary loss, and occassionally selective thick filament loss. Muscle cell necrosis is rare and limited to infarctlike lesions. Inflammatory infiltrates, if present, occur only in connective tissue septa. The cause of the capillary damage has not been determined.

Adult↗
PubMed1976

Cardiac myxoma: a diagnostic challenge for the neurologist.

Three patients with left atrial myxoma presented with prominent neurologic symptoms and signs (cerebrovascular disease and/or syncope) within the past year. Two patients died because antemortem diagnosis was late or missed. One patient was successfully treated. Cardiac myxoma produces protean clinical manifestations that do not always include cardiac signs and symptoms. Neurologists may be called on for diagnostic consultation in patients who will prove to have cardiac myxoma. Unexplained transient ischemic attacks, cerebral infarction, or syncope (with possible features of seizure activity) are common neurologic manifestations of this disease. Additionally, systemic symptoms, signs, and laboratory data suggestive of collagen vascular disease or vasculitis are also often present. Echocardiography is a dependable noninvasive procedure for a confirmation of diagnosis in suspected cases.

Adult↗
PubMed1975

Autonomic neuropathy and carcinoma of the lung.

A patient who died from oat-cell carcinoma of the lung had had abdominal pain and obstipation. Autopsy revealed autonomic neuropathy limited to the gastrointestinal tract, which was considered to be related to carcinoma as a remote effect. This interpretation was further supported by the presence of Wallerian degeneration of the dorsal columns. Autonomic neuropathy involving the gastrointestinal tract in association with malignant disease has not been previously described.

Abdomen↗
PubMed1975

Experimental mitochondrial myopathy produced by in vivo uncoupling of oxidative phosphorylation.

Two uncouplers of mitochondrial oxidative phosphorylation [2,4-dinitrophenol (DNP) and carbonylcyanide-m-chlorophenylhydrazone (CCCH)] were infused intra-arterially into a branch of the lower abdominal aorta of anesthetized rats over a 60-180 min period. An acute, severe, hypermetabolic state with systemic lactic acidosis and stiffness of the lower extremeities developed. In the plantaris muscles, by histochemistry, numerous "ragged red" fibers were present after the infusion. The "ragged red" areas presumably represented an absolute increase in mitochondrial mass in affected muscle fibers. By electron microscopy, linear inclusions were present in the intracristal space of many mitochondria. Simultaneous infusion of DNP and chloramphenicol, an inhibitor of mitochondrial protein synthesis, prevented the formation of ragged red fibers but not the intracristal inclusions. Infusion of relatively large amounts of oleic acid produced histochemical and electron-microscopic changes similar to those caused by the uncouplers. A possible pathogenesis of these reversible mitochondrial changes was discussed and their potential relevance to morphologic abnormalities of skeletal muscle mitochondria in human diseases was reviewed.

Animals↗