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Biomedical subjects

T G Barrett

Publications and source records attributed to T G Barrett.

32 records · Page 2Linked to original sources
PubMed1997

Optic atrophy in Wolfram (DIDMOAD) syndrome.

Wolfram syndrome is the association of diabetes mellitus and optic atrophy, also called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy and deafness). Incomplete characterisation has caused diagnostic confusion; we therefore undertook a nation-wide cross-sectional case finding study. We identified 45 patients with Wolfram syndrome, median age 29 years. All patients fulfilled the ascertainment criteria (juvenile onset diabetes mellitus and optic atrophy). Optic atrophy presented in 38 patients with reduced visual acuity and colour vision defect (median age 11 years), progressing to visual acuity of 6/60 or less in 35 patients (median time 8 years, range 1-25 years). Visual field examinations recorded before acuity deteriorated showed central scotomas with peripheral constriction. Blind patients had absent pupillary reflexes. Horizontal nystagmus was seen in patients with other signs of cerebellar degeneration. There was no pigmentary retinal dystrophy; only 3 patients had background diabetic retinopathy, despite a median duration of diabetes of 24 years. Electroretinography was normal in 3 patients and showed reduced amplitude in 3 patients; visual evoked responses were abnormal (10/10 patients: reduced amplitude to both flash and pattern stimulation). Magnetic resonance imaging showed generalised brain atrophy with reduced signal from the optic nerves and chiasm. A postmortem brain specimen from one patient revealed atrophy of the optic nerves, chiasm, cerebellum and brainstem. We found no evidence of mitochondrial genome defects or rearrangements. This primary neurogenerative disorder presents with diabetes mellitus and progressive optic atrophy, probably due to pathology in the optic nerve.

Adolescent↗
PubMed1997

Wolfram (DIDMOAD) syndrome.

Wolfram syndrome (MIM 222300) is the association of juvenile onset diabetes mellitus and optic atrophy, also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness). Patients present with diabetes mellitus followed by optic atrophy in the first decade, cranial diabetes insipidus and sensorineural deafness in the second decade, dilated renal outflow tracts early in the third decade, and multiple neurological abnormalities early in the fourth decade. Other abnormalities include primary gonadal atrophy. Death occurs prematurely, often from respiratory failure associated with brainstem atrophy. Most patients eventually develop all complications of this progressive, neurodegenerative disorder. The pathogenesis is unknown, but the prevalence is 1 in 770000 in the UK and inheritance is autosomal recessive. A Wolfram gene has recently been mapped to chromosome 4p16.1, but there is evidence for locus heterogeneity, and it is still possible that a minority of patients may harbour a mitochondrial genome deletion. The best available diagnostic criteria are juvenile onset diabetes mellitus and optic atrophy, but there is a wide differential diagnosis which includes other causes of neurodegeneration.

Humans↗
PubMed1996

Linkage of Wolfram syndrome to chromosome 4p16.1 and evidence for heterogeneity.

Wolfram syndrome (DIDMOAD syndrome; MIM 222300) is an autosomal recessive neurodegenerative disorder characterized by juvenile-onset diabetes mellitus and bilateral optic atrophy. Previous linkage analysis of multiply affected families indicated that the gene for Wolfram syndrome is on chromosome 4p, and it produced no evidence for locus heterogeneity. We have investigated 12 U.K. families with Wolfram syndrome, and we report confirmation of linkage to chromosome 4p, with a maximum two-point LOD score of 4.6 with DRD5, assuming homogeneity, and of 5.1, assuming heterogeneity. Overlapping multipoint analysis using six markers at a time produced definite evidence for locus heterogeneity: the maximum multipoint LOD score under homogeneity was <2, whereas when heterogeneity was allowed for an admixture a LOD of 6.2 was obtained in the interval between D4S432 and D4S431, with the peak close to the marker D4S3023. One family with an atypical phenotype was definitely unlinked to the region. Haplotype inspection of the remaining 11 families, which appear linked to chromosome 4p and had typical phenotypes, revealed crossover events during meiosis, which also placed the gene in the interval D4S432 and D4S431. In these families no recombinants were detected with the marker D4S3023, which maps within the same interval.

Adolescent↗
PubMed1995

Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome.

Wolfram syndrome is the association of diabetes mellitus and optic atrophy, and is sometimes called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). Incomplete characterisation of this autosomal recessive syndrome has relied on case-reports, and there is confusion with mitochondrial genome disorders. We therefore undertook a UK nationwide cross-sectional case-finding study to describe the natural history, complications, prevalence, and inheritance of the syndrome. We identified 45 patients with Wolfram syndrome--a prevalence of one per 770,000. Non-autoimmune, insulin-deficient diabetes mellitus presented at a median age of 6 years, followed by optic atrophy (11 years). Cranial diabetes insipidus occurred in 33 patients (73%) with sensorineural deafness (28, 62%) in the second decade; renal-tract abnormalities (26, 58%) presented in the third decade followed by neurological complications (cerebellar ataxia, myoclonus [28, 62%]) in the fourth decade. Other abnormalities included gastrointestinal dysmotility in 11 (24%), and primary gonadal atrophy in seven of ten males investigated. Median age at death (commonly central respiratory failure with brain-stem atrophy) was 30 years (range 25-49). The natural history of Wolfram syndrome suggests that most patients will eventually develop most complications of this progressive, neurodegenerative disorder. Family studies indicate autosomal recessive inheritance with a carrier frequency of one in 354, an absence of a maternal history of diabetes or deafness, and an absence of the mitochondrial tRNA Leu (3243) mutation. Juvenile-onset diabetes mellitus and optic atrophy are the best available diagnostic criteria for Wolfram syndrome, the differential diagnosis of which includes other causes of neurodegeneration.

Adolescent↗
PubMed1995

Characteristic phenotype in congenital nephrotic syndrome.

We present three children with congenital nephrotic syndrome and previously undescribed facial features. These include: (1) small mouth (intercommissural distance < 3rd percentile); (2) tented upper lip; (3) small nose (interalar distance -2 SD below mean); (4) fullness of cheeks giving a 'jowly' appearance; (5) overhanging outer thirds of upper eyelids. These features may reflect prolonged tissue oedema and protein malnutrition in utero and early life. CONCLUSION Characteristic facial features in congenital nephrotic syndrome may reflect intra-uterine malnutrition.

Facial Expression↗
PubMed1995

Near-fatal aspiration of a child's dummy: design fault or deliberate injury?

A case is described of near fatal aspiration of a child's dummy. This caused extensive injuries to the mouth and pharynx and acute respiratory embarrassment necessitating admission to a paediatric intensive care unit, and multi-disciplinary assessment. A design fault in the dummy is discussed, and it is recommended that the British Standards specification for dummies be changed. Finally, the issue of non-accidental injury is discussed, with the suggestion that injuries to the soft tissues of the mouth and pharynx be treated with the same degree of suspicion as any other childhood injury.

Airway Obstruction↗
PubMed1994

Systems integration in space flight environmental risk management.

This paper reviews the issues that must be addressed to define and integrate technologies, countermeasures, and medical care systems into space systems which will be developed for long duration space flight. This paper considers combined and cumulative effects, the broad range of space environmental health issues, including some examples, and a discussion of a management approach to these risks. While the primary emphasis is on space environmental health issues, other aspects of the space environment are also considered. Allocation of finite resources for optimal risk management is also considered.

Aerospace Medicine↗
PubMed1989

Use of a questionnaire to obtain an alcohol history from those attending an inner city accident and emergency department.

A screening questionnaire designed to take an alcohol history was used on 996 patients attending the London Hospital Accident and Emergency Department. Questions concerned with 'binge' drinking detected many problem drinkers who were not identified by questions on weekly alcohol intake or 'CAGE' questions. The relative increase in detection was particularly marked in women.

Adolescent↗
PubMedDate not supplied

Sartorial eloquence: does it exist in the paediatrician-patient relationship?

OBJECTIVE: To evaluate children's and parents' perceptions of hospital doctors' attire. DESIGN: Questionnaire study asking children and parents to assign positive and negative attributes to five photographs of a male or female doctor dressed formally and informally. SETTING: Outpatient department, Children's Hospital, Birmingham. SUBJECTS: 203 consecutive child-parent pairs attending outpatient clinics over three months. MAIN OUTCOME MEASURES: Children's and parents' preferences, assessed by comparing proportions. RESULTS: 70% (286/406) of children and parents rated doctors' dress as important; more children rated it "very important" (27% (54/203) v 14% (29/203), P < 0.01, 95% confidence interval for difference 5% to 21%). Of the 99 children responding, 44 regarded the man in white coat as most competent (44% v 20% expected by chance, P < 0.01, 34% to 54%) and most concerned (32% v 20%, P < 0.01, 23% to 41%). Children also regarded the woman in white coat as most competent; however, male and female doctors in white coats rated lower for friendliness. Asians and regular surgical attenders preferred doctors in white coats. The man in polo shirt and trousers was rated as most friendly (40% v 20% expected by chance, P < 0.01, 30% to 50%) and most gentle (37% v 20%, P < 0.01, 27% to 46%). The woman in tee shirt and slacks also rated most friendly and gentle; however, both casually dressed doctors rated lower for competence. Parents preferred more casual dress but expressed preferences less strongly, and they poorly predicted which outfits their children preferred. CONCLUSIONS: Children regard formally dressed doctors as competent but not friendly; they regard casual dress as friendly but not competent.

Ambulatory Care↗