Search PubMed⌕ Search

Biomedical subjects

F B Axelrod

Publications and source records attributed to F B Axelrod.

At least 73 records · Page 4Linked to original sources
PubMed1984

Congenital sensory neuropathies. Diagnostic distinction from familial dysautonomia.

Among congenital sensory neuropathies there are several variants that share features of diminished pain sensitivity and/or autonomic dysfunction with familial dysautonomia but can be shown to be distinct from this entity by clinical and pathologic criteria. Recognition of the unique nature of each disease type is an essential prerequisite for genetic and causative studies. We reviewed the diagnostic tests that can be used in the clinical evaluation of sensory and autonomic function. Based on this process of evaluation, we studied 13 patients who were initially considered to have familial dysautonomia but who were later shown to have five distinct syndromes that were confirmed by neuropathologic studies.

Bone and Bones↗
PubMed1983

Congenital autonomic dysfunction with universal pain loss.

Three patients who appear to have a previously undescribed congenital neuropathy are described. None is of Ashkenazi Jewish extraction, but each seems to fulfill the clinical diagnostic criteria for familial dysautonomia. All lack overflow tears, fungiform papillae, and deep-tendon reflexes; intradermal administration of histamine did not produce an axon flare. Intraocular instillation of dilute mecholyl produced miosis in the one patient tested. In contrast to patients with familial dysautonomia, the three patients had universal loss of pain sensation, profound hypotonia, and unusual facies. Pathologic examination of the sural nerve in one patient was not consistent with the usual findings in familial dysautonomia. These patients are believed to have a previously undescribed congenital neuropathy.

Child, Preschool↗
PubMed1983

Physical therapy management of familial dysautonomia.

This paper describes physical therapy programs to assist physical therapists in the rehabilitation of patients with familial dysautonomia. There have been no reports in the literature about a physical therapy program for patients with this disease. A retrospective analysis of the clinical manifestations in 80 patients in a dysautonomia clinic was performed. Scoliosis and kyphosis were found in 92 percent of the patients, 93 percent had ataxia, 74 percent had feeding difficulties, 69 percent had frequent pneumonias, and 63 percent exhibited delayed developmental milestones. Cardiovascular, gastrointestinal, pulmonary, musculoskeletal, and neurological symptoms and treatments are discussed.

Adolescent↗
PubMed1982

Gastroesophageal fundoplication and gastrostomy in familial dysautonomia.

Gastric and esophageal dysfunction are components of familial dysautonomia. The limited success of various medical management programs, has led to two types of surgical intervention. Experience with nine patients who had gastrostomy alone and 12 patients who had gastroesophageal fundoplication is reviewed. Both surgical procedures decreased frequency of vomiting and pneumonias and had positive effects on weight gain. Although "dysautonomic crises" are not eliminated, sufficient modification in character occurs so that associated risks are lessened. It is suggested that if medical management cannot control recurrent pneumonia, postprandial vomiting, esophageal bleeding, and/or inadequate weight gain, then the patient should be evaluated for fundoplication and/or gastrostomy.

Adolescent↗
PubMed1981

The pupil in familial dysautonomia.

We performed infrared pupillography on 10 patients with familial dysautonomia. Pupillary constriction to light and accommodation was normal. There was no evidence for light-near dissociation, and tonic responses were not observed. Dilatation in darkness was normal. Ocular application of dilute pilocarpine produced miosis in all patients. Supersensitivity of the pupil to muscarinic agents in familial dysautonomia is unlikely to be explained by parasympathetic denervation. Possible explanations for this phenomenon include diminished lacrimation and corneal ulcerations.

Adolescent↗
PubMed1981

Progressive sensory loss in familial dysautonomia.

Clinical variability in sensory impairment was demonstrated among 75 patients with familial dysautonomia. Older patients had a greater tendency toward increased dysfunction in pain sensation, joint position and Romberg's sign, and vibratory sense. Significant worsening with increased age was supported by retesting of 53 patients after a five-year interval. Sensory and motor axon loss were indicated by electrodiagnostic testing of peripheral nerves and abnormal cortical somatosensory evoked potentials. Familial dysautonomia is a hereditary disease with variable penetrance which involves both failure of intrauterine development of neurons and their postnatal maintenance.

Adolescent↗
PubMed1980

Personality development and familial dysautonomia.

The study sought to establish baselines for personality and frequency of psychopathology in familial dysautonomia (FD). Fifty FD patients, aged 6 to 28 years, served as subjects. FD subjects in all age ranges manifest neurotic patterns, but show no greater incidence of more severe pathology than is found in the general population. the arrested psychologic development seen in FD is described, together with the phenomenon of periodic lapses in judgment. The organic impairment of cognitive functions is discussed. Recommendations for treatment are proposed.

Adolescent↗
PubMed1979

Intellectual development and familial dysautonomia.

The study examined adaptive trends in cognitive development among individuals with familial dysautonomia and sought to establish new base rates of intelligence for the dysautonomic population. Fifty-two subjects, aged 6 to 28 years, were administered the Wechsler scales of intelligence. The results indicate that there is less cognitive impairment than previous research would suggest, and that more dysautonomic children are capable of adjusting to standard school programs than was heretofore thought possible. Specific deficits seen in this population are discussed along with a rationale for deleting the term retarded where most of these individuals are concerned.

Adolescent↗
PubMed1978

Pregnancy in familial dysautonomia.

This report describes the first two known instances of viable pregnancies in two patients with familial dysautonomia (Riley-Day syndrome). The offspring were apparently normal. Several conditions, specifically related to autonomic and sensory dysfunction in pregnancy, are discussed.

Adult↗
PubMed1975

Serum dopamine-beta-hydroxylase in familial dysautonomia.

The mean value of serum dopamine-beta-hydroxylase (D beta H) in patients with familial dysautonomia, 1 to 5 years of age, does not differ significantly from control children of the same age (24.0 plus or minus 21.06 S.D. as compared to 34.0 plus or minus 33.12). Among patients 6 years of age and over, the mean value was slightly but significantly lower than in control subjects (62.7 plus or minus 49.61, as compared to control values of 86.1 plus or minus 54.31 p less than 0.025). However, the determination of serum D beta H does not contribute to the diagnosis of familial dysautonomia because well over half the children have levels within 1 S.D. of the mean levels of the control subjects. There is no correlation with clinical symptomatology. The disease process may tend to depress the level of serum D beta H but the effect is neither consistent nor decisive.

Adolescent↗