Marker X chromosomes and mental retardation.
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Biomedical subjects
Publications and source records attributed to G R Sutherland.
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B-Scan ultrasonography was used to show muscle enlargement in all patients with Graves' disease and positive eye signs even when the clinical signs were minimal (lid lag and stare only). In addition, in cases of Graves' disease without clinical eye signs, 63% of orbital examinations showed ultrasonic evidence of muscle enlargement, often to a marked degree. This occurred more frequently in euthyroid patients after ablation of the thyroid by surgery or radiation, than in frankly thyrotoxic patients. The presence of subclinical ophthalmopathy in the fellow eye is a useful diagnostic aid in cases of uniocular proptosis.
Forty-two adults in deep coma due to uncomplicated overdosage with barbiturates or tricyclic antidepressants were studied to determine the effects of the drugs and the depth of coma on ventilation and acid-base balance. All the patients were breathing spontaneously. The usual acid-base disturbance was a mixed respiratory and metabolic acidosis. No differences in effects of barbiturates and tricyclic antidepressants could be demonstrated in either grade of coma studied. Patients who were completely unresponsive to painful stimuli were significantly more acidemic (arterial [H+] 51.4 nmole/liter c.f. 44.4 mole/liter) and hypoxic (PaO2 6.6 kPa c.f. 10.5 kPa) than those who showed a minimal response to pain. These findings could not be explained by differences in alveolar ventilation, and it is suggested that they are due to ventilation/perfusion imbalance.
A cytogenetic survey of all 588 patients in Strathmont Training Centre, an Australian hospital for the mentally retarded, was carried out. Abnormal karyotypes were found in 90 (15.3%) patients, of whom 73 (12.4%) had clinical Down syndrome, 12 (2.04%) other autosomal abnormalities, and 5 (0.85%) sex chromosome abnormalities.
60 patients with paracetamol poisoning have been treated with intravenous cysteamine, L-methionine, or D-penicillamine and the incidence and severity of hepatic necrosis compared with those observed in 70 patients receiving supportive therapy only. Of 31 patients with 4-hour plasma-paracetamol concentrations greater than 250 mug/ml given supportive therapy 22 sustained severe liver damage, 3 died in hepatic failure, and 4 developed acute renal failure. None of 23 similarly poisoned patients given cysteamine within 10 hours of ingestion suffered severe liver damage or renal failure and none died. Cysteamine was partially effective at 10-12 hours, but ineffective 12 hours or more after ingestion. Liver damage was absent or mild in 17 patients given L-methionine within 10-12 hours of ingestion but severe in 3 treated within 10 hours. Of 5 patients treated with D-penicillamine, 1 developed severe liver damage with acute renal failure. It is concluded that cysteamine prevents severe liver damage after paracetamol poisoning if given within 10 hours in adequate dosage.
Two infants with trisomy involving chromosome 9 are described. One had complete trisomy 9 and the other karyotype 47,XX,+der(9),t(7;9) (p22;q32)mat. A trisomy 9 syndrome is delineated, consisting of features of the trisomy 9p syndrome and various other malformations. These include abnormalities of the cardiovascular and urogenital systems, cranial suture anomalies, dislocation of the hips and knees and early death. A possible relationship of some of these findings to regions of 9q involved in cases of partial trisomy 9 is suggested.
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A comparison made between five techniques for introducing additional gas to the stomach for double contrast barium examination showed effervescent tablets to be associated with significant improvement in gastric mucosal coating with significantly less bubble formation. A proprietary effervescent health salt on the other hand was associated with significantly greater bubble formation.
An inmate of a hospital for the mentally retarded was found during a cytogenetic screening programme to have karyotype 46,XY,inv(19)(p13q13)mat. Clinical, cytogenetic and family findings are presented and it is concluded that the chromosomes abnormality was probably not the cause of the patient's retardation. The problem of genetic counseling of inversion carriers is examined in some detail and estimates of risk are given.
Total and % A hexosaminidase were similar for primary cultures and later passages of amniotic fluid cells. The culture variables-through serial passage, within a passage and replicate primary cultures-resulted in some variation in total hexosaminidase, but an insignificant change in % A hexosaminidase. They are unlikely to give rise to any problems in the antenatal diagnosis of Sandhoff's and Tay-Sachs diseases.
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To date television has not been used very much in teaching diagnostic radiology. The authors describe their method of producing educational videotape recordings suitable for teaching purposes. The adults point out that the procedure is relatively cheap in a department that possesses a videotape recorder and emphasise its value for specialised radiological teaching.
The design, construction and performance of a gamma ray densitometer are described. The instrument, which is used in the investigation of regional pulmonary function, has both digital and analogue outputs.
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The macrophage content of amniotic fluid has been measured and the upper limit of normal on an arbitrary scale is 41. Amongst 65 amniotic fluids collected for antenatal diagnostic studies before 22weeks' gestation there were eight which had macrophage counts ranging from 82 to 6226,three of these were shown to have anencephaly and two spina bifida. The reasons for three apparently false positives are as yet undetermined. Rhesus iso-immunized amniotic fluids were found to have macrophage counts of up to 276 and a possible explanation for this is considered. It is argued that an elevated aminotic fluid macrophage count may indicate a CNS defect or possibly other fetal abnormality.
Sixty patients presenting with retinal detachment have been examined using a Nuclear Enterprises Diasonograph 4102; 25 with no identifiable cause (primary), the remainder due to causes such as vitreous haemorrhage, trauma, inflammatory eye disease, aphakia and neoplasm. In the diagnosis and management of retinal detachment echography has a definite but limited application, particularly in patients who have cloudy or opaque media and in whom detachment secondary to a malignant melanoma is suspected. In patients with trauma or vitreous haemorrhage important therapeutic considerations depend upon a precise knowledge of the structure of the globe and complicating features such as vitreous fibrosis or retinal detachment. In such patients the value of echo amplitude measurements in combination with B-scan echography is described. In primary retinal detachment because of vitreous haziness, the extent, size and degree of displacement of the retinal detachment may be more precisely demonstrated echographically than by conventional ophthalmoscopy, facilitating surgical management.
A demonstration of the B-scan echographic appearances of some commonly encountered lens abnormalities is presented. Examples of intumescent, traumatic and calcified cataracts, congenital and traumatic displacements and other abnormalities are shown. The significance of these findings is discussed and the importance of pre-operative ultrasonic examination of the patient for cataract extraction to exclude vitreous or retinal pathology is stressed. The value of echographic examination in traumatic cases, where vitreous haemorrhage has occurred, in the demonstration of intraocular abnormalities, such as retinal detachment or a non-radio-opaque foreign body is also discussed.