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Biomedical subjects

W J Patrick

Publications and source records attributed to W J Patrick.

At least 19 recordsLinked to original sources

Infant cerebellar gray and white matter fatty acids in relation to age and diet.

There is little evidence as to the fatty acid composition of the cerebellum in infancy and it remains uncertain whether milk diet can influence its composition. We therefore examined cerebellar gray and white matter of infants less than 6 month old who had died unexpectedly. The fatty acid content of 33 gray and 21 white matter specimens from infants born at term and 6 gray and 5 white matter specimens from preterm infants was assessed by gas chromatographic/mass spectrometric analysis. Infants were grouped according to whether they had received human or manufactured formula milk. Whereas cerebellar cortex docosahexaenoic acid (DHA, 22:6n-3) concentrations were significantly lower (P<0.01) in the formula-fed than breast-fed infants, no differences existed between the term (n = 10) and preterm (n = 5) Synthetic Milk Adapted [corrected] (SMA) formula-fed infants. Cerebellar white matter DHA concentrations were similarly lower (P<0.01) in the SMA formula-fed infants (n = 8) than in an age-matched breast-fed group. Low concentrations of cerebellar white matter lignoceric (24:0) and nervonic acid (24:1n-9) in two 7-wk-old preterm infants appeared to correlate with postgestational rather than chronological age. Dietary long-chain polyunsaturated fatty acids, particularly DHA, are probably essential for normal development of the infant cerebellum.

Aging↗

Infant growth and aorta total lipid fatty acids.

Abnormal fetal and infant growth have increasingly been correlated with adult onset cardiovascular disease. To date, there is little known about the lipid fatty acid profiles in infant cardiovascular tissue. Therefore, we analysed total lipid fatty acids from thoracic and abdominal aorta intima and media from 24 normally grown sudden infant death syndrome cases. Aorta from small for gestational age (n = 2), failure to thrive from birth (n = 3), and premature (n = 1) infants were also examined. Dihomo-gamma-linolenic acid (C20:3n-6) and oleic acid (C18:1n-9) concentrations were significantly lower in the thoracic than in the abdominal aorta. Similar dietary related differences were found in the subgroup (n = 15) of infants fed on formula milks. Both abdominal and thoracic intimal arachidonic (C20:4n-6) to dihomo-gamma-linolenic acid ratios were greater in the infants with retarded growth after birth than in their normally grown counterparts. Growth restriction in infancy might disrupt the normal accretion of vascular endothelial polyunsaturated fatty acids.

8,11,14-Eicosatrienoic Acid↗

Ectomesenchymoma: one or two tumors? Case report and review of the literature.

Ectomesenchymoma has not previously been reported in a patient with the cutaneous nevus syndrome. A case of perineal ectomesenchymoma is presented with unusual cytogenetic findings. The significance of these is discussed and the world literature reviewed. This is the first such case reported.

Combined Modality Therapy↗

Batten disease in the west of Scotland 1974-1995 including five cases of the juvenile form with granular osmiophilic deposits.

We report on 12 children with neuronal ceroid lipofuscinosis (NCL) diagnosed between 1974-1995 in the West of Scotland. Diagnosis was made on the basis of clinical, electrophysiological, radiological and pathological examination including electron microscopy (EM) in all cases. Incidence was calculated on the basis of the year of diagnosis and the live birth rate. Six cases were infantile and 6 juvenile NCL derived from a total of 10 families. No cases of late infantile or early juvenile NCL were identified. All cases were typical in clinical description. Cumulative incidence was 1.61/100,000 live births (0.87 and 0.73/100,000 live births for juvenile and infantile NCL respectively). There was significant delay in diagnosis of the juvenile form of NCL. EM findings were unusual in the juvenile group in that 5 of 6 cases exhibited granular osmiophilic deposits (GROD) rather than typical fingerprint inclusion bodies. Four of these 5 cases also failed to show vacuolation of lymphocytes. Thus, in the West of Scotland, the distribution of NCL cases by type and by EM findings is unusual, and suggests a distinct genetic variant of juvenile NCL, possibly allelic to infantile NCL.

Age of Onset↗

Human parvovirus B19 infection associated with hydrops fetalis.

Human parvovirus B19 infection has been associated with fetal anaemia, hydrops and in some cases fetal demise. We report our experience with nonimmune hydrops fetalis due to human parvovirus B19 infection in 17 pregnancies which were identified sonographically over a period of 10 years. The only baby who survived received repeated intrauterine transfusions and was normal neurodevelopmentally at 2 years follow-up. Two other fetuses who also received intrauterine transfusion did not survive. All pregnancies complicated with nonimmune hydrops should be investigated by fetal blood sampling looking for the evidence of parvovirus infection. Intrauterine transfusion should be reserved for hydropic fetuses with a low haematocrit. A greater understanding of the natural history of human parvovirus infection is needed prior to deciding the optimum mode of therapy.

Adult↗

Thoracic mesenchymoma of infancy.

Mesenchymoma of the chest wall is rare in infancy and can be easily mistaken for a malignant tumor. It is a distinct pathological entity that presents at birth or during infancy as self-limiting expansile intraosseous lesions involving the body of one or more ribs. Histologically, it is a benign focal overgrowth of normal skeletal elements. Two such cases are presented.

Diagnosis, Differential↗

Effect of diet on the fatty acid composition of the major phospholipids of infant cerebral cortex.

The fatty acid compositions of the major cerebral cortex phospholipids, phosphatidylcholine, phosphatidylethanolamine, and phosphatidylserine were measured in 16 term and one preterm 'cot death' infants fed exclusively either breast milk or one of two formulas. Docosahexaenoic acid (DHA; C22:6n-3) content in cerebral cortex phosphatidylethanolamine and phosphatidylserine of breast fed infants was greater than in both formula groups with significances varying between p < 0.1 and p < 0.001. Compensation for this deficiency in DHA in the formula fed infants was largely achieved by increased incorporation of docosapentaenoic acid (C22:5n-6) in the cerebral cortex of term infants and Mead (C20:3n-9) and dihomo Mead acids (C22:3n-9) in the preterm infant. As the phospholipids most affected are known to perform an important role in membrane function and are possibly integral to neurotransmission it is recommended that breast milk substitute infant formulas should contain n-3 and n-6 series polyunsaturated fatty acids in proportions similar to those of human milk.

8,11,14-Eicosatrienoic Acid↗

Age- and dietary-related distributions of hepatic arachidonic and docosahexaenoic acid in early infancy.

A dietary-related deficiency of docosahexaenoic acid [C22:6(n-3)] in infant cerebral cortex has been identified. Absence or very low rates of hepatic synthesis from the essential fatty acid precursor, alpha-linolenic acid [C18:3(n-3)], in early life may have been a contributory factor. We have analyzed liver total lipid fatty acid compositions in 27 term (37-42 wk gestation) and 4 preterm (30-33 wk gestation) infants who died within the first 6 mo of life from sudden infant death syndrome. The infants were fed exclusively either human or formula milks. Formula-fed infants were subdivided into two groups, one receiving SMA milk with an alpha-linolenic acid content at 1.5% of total fatty acids and the other a composite group fed milks with low alpha-linolenic acid concentrations (< 0.1% to 0.4%). The hepatic content of arachidonic acid [C20:4(n-6)] and docosahexaenoic acid was generally lower in both formula-fed groups than in the human milk-fed group. The age-related distributions of docosahexaenoic acid showed that coincident minimum levels were present in both formula groups in the third month of life. This may indicate that the hepatic enzymes involved in the final stage (delta 4-desaturation) conversion of alpha-linolenic acid to docosahexaenoic acid could be inactive in the first months of life. Emphasis must be on provision of preformed dietary docosahexaenoic acid and possibly arachidonic acid as well as their essential fatty acid precursors, to both term and preterm infants for at least the first 16 wk of life.

Animals↗

Renin gene expression in nephroblastoma.

Most cases of nephroblastoma have high plasma levels of prorenin which is biologically inactive. Plasma prorenin levels fall to normal following nephrectomy. In order to ascertain whether renin synthesis occurs in nephroblastomas we decided to search for renin-specific mRNA using a cDNA probe and Northern blot analyses on total RNA purified from snap-frozen human tumour tissue obtained at nephrectomy. We demonstrated renin-specific mRNA in 5/11 (45 per cent) nephroblastomas. It was 1.6 Kb in length, similar to the mRNA detected in normal kidney tissue and in kidneys with renal artery stenosis. In one of the cases of nephroblastoma, in which we could detect no normal renin mRNA at 1.6 Kb, the cDNA probe hybridized with a higher molecular weight mRNA 3 Kb in length. We conclude that some nephroblastomas synthesize renin.

Gene Expression↗

Eight year study of viral isolates from cot deaths in Glasgow.

Over an eight year period 21 different viral strains excluding polioviruses were isolated in 44 (19%) of 237 cot deaths. The percentage of viral positive cases was significantly greater in over 16 week age groups and in cultures obtained less than 24 hours after death.

Age Factors↗

Free amino acid content of the vitreous humour in cot deaths.

The concentration of 27 amino acids in the vitreous humour was analysed in 120 cot deaths. Baseline data for age and postmortem interval are presented and the concentrations compared with the normal reference range for plasma. The results do not indicate that a specific aminoacidopathy is a factor in cot deaths.

Amino Acids↗

Maternal serum alpha-fetoprotein--a marker of fetal aplastic crisis during intrauterine human parvovirus infection.

In 2 cases of hydrops fetalis and intrauterine death associated with human parvovirus B19 infection that produced very few symptoms during the second trimester of pregnancy, maternal serum alpha-fetoprotein levels were raised, before the ultrasonic detection of hydropic features. Fetal blood sampling in 1 case revealed the features of aplastic crisis. A retrospective study of 3 other affected and 11 unaffected cases of B19 infection during pregnancy showed a correlation between raised maternal serum alpha-fetoprotein level and poor prognosis for the affected pregnancies, with the subsequent development of hydrops fetalis.

Adult↗

National Post-Perinatal Infant Mortality and Cot Death Study, Scotland 1981-82.

Throughout 1981 and 1982 all deaths of infants aged 8-365 days (post-perinatal infant mortality, PPIM) in Scotland were studied. During this period there were 135 250 live births and 1533 infant deaths (infant mortality rate 11.3), including 763 PPIM deaths (5.6 per 1000 live births). These 763 deaths fell into three main categories: birth-determined (329), accident or acquired disease (65), and cot deaths (369). Birth-determined deaths included 109 preterm, 199 congenital disorders, and 21 miscellaneous deaths. 61 of the cot deaths were fully explained on necropsy, in 141 an associated finding which might or might not be relevant was found, and in the remaining 167 no explanation was found. The cot death rate was 2.7 per 1000 live births overall (3.3 for boys, 2.1 for girls), and more second-born than first-born children died (approximately 3:2). Excluding "explained" cot deaths the rate was 2.3 per 1000 live births.

Accidents↗

Lethal neonatal chondrodysplasias in the West of Scotland 1970-1983 with a description of a thanatophoric, dysplasialike, autosomal recessive disorder, Glasgow variant.

Complete ascertainment of lethal neonatal short-limb chondrodysplasias was attempted in the West of Scotland for the period 1970-1983. Forty-three cases were identified, representing a minimum incidence of 1 in 8,900. The differential diagnosis included 11 well-delineated skeletal dysplasias, one case of warfarin embryopathy, and one apparently new condition with presumed autosomal recessive inheritance that has radiographic similarities to those of thanatophoric dysplasia (TD). In this series TD had an incidence of 1 in 42,221, which is consistent with new dominant mutation at a rate of 11.8 +/- 4.1 X 10(-6) mutations per gene per generation. Ultrasonic measurement of fetal long bone length was performed in eight subsequent pregnancies at risk. Five unaffected fetuses were predicted correctly and three affected fetuses were detected during the second trimester (one with rhizomelic chondrodysplasia punctata-second trimester prenatal diagnosis not previously reported; one with achondrogenesis type II; and one with the new lethal condition).

Chondrodysplasia Punctata↗

Carcinoid syndrome: an unusual cause of diarrhoea.

A 9 year old girl underwent laparotomy because of intermittent diarrhoea, present since infancy. Histology of a mass at the head of pancreas and multiple hepatic nodules suggested an apudoma. Plasma serotonin and urinary excretion of 5 hydroxy indole acetic acid were raised. The child is asymptomatic four years after diagnosis.

Antineoplastic Combined Chemotherapy Protocols↗

Alloxan therapy for nesidioblastosis.

Two patients with nesidioblastosis presented to the Royal Hospital for Sick Children in Glasgow and developed recurrent hypoglycemia after subtotal pancreatectomy. They were treated successfully with alloxan (mesoxalyl urea). Alloxan is recommended as an alternative to further radical surgery.

Alloxan↗

Post-perinatal infant mortality in Glasgow 1979-81.

Post-perinatal infant mortality (PPIM; deaths from the 8th day to the end of the 1st year of life) was studied in Glasgow over the 3-year period 1979-81. The 244 deaths were divided into three main categories--those determined at birth, those due to accidents and acquired disease, and cot deaths. 50% of deaths were determined at birth, and of these 46% were due to prematurity and 49% to congenital disorder. Cot deaths accounted for 44% of the total (88% of deaths not determined at birth) and a definite cause could be identified in only 10% of these. The PPIM rate was 6.1 per 1000 livebirths, a significant part of the infant mortality rate of 12.6. The significance of these findings is discussed in relation to the possible reduction of these figures.

Birth Injuries↗