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Biomedical subjects

R R Skoglund

Publications and source records attributed to R R Skoglund.

17 recordsLinked to original sources

Interactions with grandparents and great-grandparents: a comparison of activities, influences, and relationships.

This study explored the relationships between young adults and their grandparents and great-grandparents. A convenience sample of fifty-two college students, who had at least one living grandparent and great-grandparent, completed a questionnaire that assessed their interactions with their grandparents and great-grandparents. The respondents engaged in more frequent contact and activities with their grandparents than with their great-grandparents. They also perceived their grandparents as having a more defined role and being more influential in their lives than great-grandparents. Discussion centers on potential personal and demographic factors that may have influenced the respondents' perceptions of and interactions with their great-grandparents.

Adolescent

Infantile neurodegenerative disease with neuronal accumulation of phosphorylated neurofilaments.

A caucasian male with a history of mental retardation and intractable epilepsy since birth, developed progressive wasting and weakness of skeletal muscles, leading to death at 4 years of age. A biopsy of gastrocnemius muscle at 2 years of age revealed severe neurogenic atrophy. Sural nerve biopsies at 2 and 3 years showed progressive atrophy and loss of large myelinated nerve fibers with a paucity of neurofilaments in remaining nerve fibers. Postmortem immunohistochemical and ultrastructural examination showed that neurons were markedly distended by phosphorylated neurofilaments. Whereas large lower motor neurons were most severely involved, dorsal root ganglia and neurons in the cerebral cortex and deep gray nuclei were also affected. It is suggested that this disease is caused by a disorder of neurofilament phosphorylation and transport.

Amyotrophic Lateral Sclerosis

The false cortical thumb.

Two cases of thumb-in-palm deformity are presented that are postulated to be complications of repeated radial artery puncture and cannulation with secondary damage to the thumb extensor tendon sheath and its extensor pollicis brevis and abductor pollicis longus tendons. Nonfixed adduction-flexion posturing of the thumb is to be differentiated from "the cortical thumbs" often associated with adduction, flexion contracture of upper motor neuron injury, and other disorders with thumb-in-palm deformities. The risks of complication of radial artery puncture are multiple. An added risk is the potential for impaired extensor tendon function as a complication of a radial puncture.

Arm

Duchenne muscular dystrophy in a 46 XY female.

The most common muscular dystrophy, Duchenne muscular dystrophy (DMD), is an X-linked disorder that ordinarily has full clinical expression only in males. Reports of typical clinical features in females are rare but have occurred with a phenotypically identical autosomal recessive muscular dystrophy as well as in females with X-chromosome abnormalities such as the Turner syndrome. A girl with full expression of DMD due to a 46 XY karyotype is reported, and other clinical conditions in which expression of the DMD gene occurs in females are reviewed.

Child

Reversible alexia, mitochondrial myopathy, and lactic acidemia.

A 11-year-old boy of short stature had recurrent right temporal pounding headaches of 7 months' duration, and progressive visual loss for 3 days. There was a left hemianopia, alexia without agraphia, and diffuse muscle weakness. Investigation established the presence of a mitochondrial myopathy with pyruvate and lactic acidemia and increased serum content of sarcoplasmic enzymes. On treatment with prednisone, the patient's strength and reading skill improved, symptoms resolved, and muscle enzymes returned to normal. Three attempts to reduce steroids resulted in accentuation of symptoms, seizures, weakness, regression of reading skills, and elevation of serum enzymes. The alexia was also reversible.

Child

Hypertension associated with the Guillain-Barré syndrome.

Guillain-Barré syndrome (GBS) is frequently complicated by hypertension, which has been ascribed to sympathetic nervous system hyperactivity. We report the case of a child with GBS and hypertension that appeared to be related to increased renin-angiotensin activity. Urinary catecholamine excretion was normal. Propranolol therapy successfully controlled the hypertension. Evaluation of the renin-angiotensin system and catecholamine excretion is indicated in patients with GBS and hypertension.

Catecholamines

The role of anti-acetylcholine receptor antibody in neonatal myasthenia gravis.

An opportunity to investigate the role of anti-acetylcholine receptor antibody (anti-AcH R-antibody) in neonatal myasthenia gravis was presented when an infant was born to a symptomatic myasthenic mother who elected to breast feed the child. Pyridostigmine bromide determinations in plasma and breast milk were made by quantitative gas liquid chromatography. Anti-AcH R-antibody was assayed by an immunoprecipitation method. Simultaneous maternal blood and milk samples did not suggest concentration of pyridostigmine bromide in milk or significant transfer of medication through demand breast feeding. Weakness was not noted in the neonate in spite of high levels of anti-AcH R-antibody demonstrated in her blood. Presence of a markedly elevated anti-AcH R-antibody in a pregnant patient symptomatic with myasthenia gravis does not necessarily predict a clinically affected offspring, nor does the elevated antibody in the infant, presumably acquired transplacentally, necessarily result in clinical symptomatology in the newborn period.

Acetylcholine