Biomedical subjects
Publications and source records attributed to L E Lim.
The autosomal recessive forms of limb-girdle muscular dystrophies are encoded by at least five distinct genes. The work performed towards the identification of two of these is summarized in this report. This success illustrates the growing importance of genetics in modern nosology.
beta-Sarcoglycan, a 43 kDa dystrophin-associated glycoprotein, is an integral component of the dystrophin-glycoprotein complex. We have cloned human beta-sarcoglycan cDNA and mapped the beta-sarcoglycan gene to chromosome 4q12. Pericentromeric markers and an intragenic polymorphic CA repeat cosegregated perfectly with autosomal recessive limb-girdle muscular dystrophy in several Amish families. A Thr-to-Arg missense mutation was identified within the beta-sarcoglycan gene that leads to a dramatically reduced expression of beta-sarcoglycan in the sarcolemma and a concomitant loss of adhalin and 35 DAG, which may represent a disruption of a functional subcomplex within the dystrophin-glycoprotein complex. Thus, the beta-sarcoglycan gene is the fifth locus identified (LGMD2E) that is involved in autosomal recessive limb-girdle muscular dystrophy.
Patients who failed to attend psychiatric outpatient follow-up were compared with a group of comprising regular attenders. There were 71 defaulters out of 1,664 appointments given during the study period. Schizophrenia was the most common diagnosis. The defaulters did not differ from the controls in terms of age, sex, ethnicity, occupational or marital status. The unemployed were not more likely to be regular, instead, the better educated, shorter intervals between appointments and those given morning appointments were. Those solely on oral medication were more likely to default. The largest proportion gave reasons of work commitments and of not being free to attend; others claimed they had forgotten their appointments or had lost their appointment cards. Patients who said they did not come because they felt well or still had medication were cause for concern because of possible lack of insight and non-compliance with their medication.
Adhalin, the 50 kDa dystrophin-associated glycoprotein, is deficient in skeletal muscle of patients having severe childhood autosomal recessive muscular dystrophy (SCARMD). In several North African families, SCARMD has been linked to chromosome 13q, but SCARMD has been excluded from linkage to this locus in other families. We have now cloned human adhalin cDNA and mapped the adhalin gene to chromosome 17q12-q21.33, excluding it from involvement in 13q-linked SCARMD. However, one allelic variant of a polymorphic microsatellite located within intron 6 of the adhalin gene cosegregated perfectly with the disease phenotype in a large family. Furthermore, missense mutations were identified within the adhalin gene that might cause SCARMD in this family. Thus, the adhalin gene is involved in at least one form of autosomal recessive muscular dystrophy.
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Pain is a symptom commonly encountered by the medical profession. After excluding organicity, the possibility of psychogenic mechanisms should be borne in mind. Diagnostic clues in the history and physical examination are outlined. An early referral to the psychiatric services minimises wastage of time and resources but requires skillful handling and sensitivity on the part of the referrer. Patients do not regard themselves as psychologically abnormal and are often resentful and angry when referred for psychiatric evaluation. Principles of management are described with emphasis on establishing an early rapport. Cognitive behavioural methods appear promising but require further evaluation in controlled studies.
Eighty-six male psychiatric patients discharged from the Criminal Procedure Code over a 5-year period were studied to determine their social, occupational and clinical outcome. The majority were young, single Chinese who had received little education and had suffered from schizophrenia. More than half had been hospitalised for up to 5 years. On discharge many were living with their relatives, 83% were working, 60% were socially isolated and about half were asymptomatic. Factors associated with their outcome were examined.
Neurotic disorders are commonly encountered in psychiatric outpatient clinics. Treatment of the commoner conditions like the anxiety states, depressive, obsessive-compulsive, hypochondrical and phobic neuroses will be described. This includes general supportive measures, pharmacological, cognitive, behavioural and psychodynamic approaches.
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Explore the source record for details and available documents.
Explore the source record for details and available documents.