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Biomedical subjects

C Galloway

Publications and source records attributed to C Galloway.

8 recordsLinked to original sources

Syndromes associated with trichothiodystrophy.

Sparse, brittle, sulphur-deficient hair is an excellent marker for several autosomal recessive neurocutaneous syndromes. The term 'trichothiodystrophy' is commonly used in publications on such syndromes and the best characterized trichothiodystrophy syndrome is associated with skin photosensitivity and intellectual impairment. Patients with these three cardinal signs usually have an underlying DNA repair defect. Here we describe clinical and laboratory findings in two patients with trichothiodystrophy and defective DNA repair alongside findings in three other cases who have different trichothiodystrophy syndromes without defective DNA repair. These patients' features are discussed in the light of a practical classification scheme which is based upon a check-list of clinical abnormalities associated with trichothiodystrophy syndromes (Van Neste, 1991).

Adolescent

Ear malformation and hearing loss in patients with Treacher Collins syndrome.

Although the hearing loss of patients with Treacher Collins syndrome is well documented, few studies have reported jointly on their hearing loss and ear pathology. This paper reports on the hearing loss and computerized tomography (CT) assessments of ear malformations in a large pediatric series of patients with Treacher Collins. Of the 29 subjects assessed by the Craniofacial Program between 1986 and 1990, paired audiologic and complete CT assessments were available for 23 subjects. The external ear canal abnormalities were largely symmetric, either bilaterally stenotic or atretic. In most cases, the middle ear cavity was bilaterally hypoplastic and dysmorphic, and ossicles were symmetrically dysmorphic or missing. Inner ear structures were normal in all patients. The majority of patients had a unilateral or bilateral moderate or greater degree of hearing loss and almost half had an asymmetric hearing loss. The hearing loss of all subjects was conductive, except for three whose loss was bilateral mixed. Two types of bilaterally symmetric hearing loss configurations, flat and reverse sloping, were noted. Conductive hearing loss in patients with Treacher Collins is mainly attributable to their middle ear malformations, which are similar for those of patients with malformed or missing ossicles.

Adolescent

Modification of the traditional bone conduction hearing aid.

The purpose of this technical note is to describe a modification of the traditional bone conduction hearing aid used for the treatment of hearing impairment associated with atresia, microtia, or auditory canal anomalies. This modified unit offers a viable alternative to patients wanting an alternative to the traditional model or an implantable bone conduction aid.

Bone Conduction

European versus U.S. data on the course of schizophrenia.

OBJECTIVE: The present research attempts to add to the existing body of data on the course of schizophrenia by comparing the findings of a prospective study of a group of U.S. schizophrenic patients with data from two European studies. METHOD: Seventy-four U.S. patients given the diagnosis of schizophrenia according to Research Diagnostic Criteria were longitudinally assessed at hospitalization and at three intervals up to 10 years after illness onset. The longitudinal criteria for type of onset, course of illness, and outcome were derived from the European studies of Manfred Bleuler and Luc Ciompi. The type of onset, course of illness, and outcome of the U.S. patients were compared with those of the patients in the two European studies. RESULTS: A lower rate of acute onset and of episodic illness was found in the U.S. patients, but the relative frequency of a number of major overall course patterns was similar across studies. CONCLUSIONS: Despite many potential threats to comparability, the results of the European and U.S. longitudinal studies of the course of schizophrenia were fairly congruent in terms of the relative rate with which patients fell into the categories established by Bleuler and Ciompi. These results are encouraging in that they point to the possibility of estimating the rate of occurrence of particular expressions of the overall course of schizophrenia.

Cross-Cultural Comparison

Modification of a response bias through differential amount of reinforcement.

A procedure is described for assessing response bias to either the form or color dimension of a compound standard stimulus. Responding was assessed under conditions of equal reinforcement (three tokens) for responding to either the form or color dimension. Under these conditions, the four male subjects (aged 7 to 11 yr) differentially responded to the form dimension. After a bias was assessed, the number of tokens delivered contingent upon form responses was reduced. After a reversal in differential responding, the equal-reinforcement condition was reintroduced. Two of the subjects returned to their initial response bias when equal reinforcement for either dimensional response was reintroduced, and two maintained the reversal established during the differential-reinforcement phase. For the latter two subjects, differential reinforcement was again imposed, in favor of form. This partial replication reinstated their original pattern of response bias.

Color Perception