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Biomedical subjects

A Ohlsson

Publications and source records attributed to A Ohlsson.

At least 163 records · Page 9Linked to original sources
PubMed1986

Carbonic anhydrase II deficiency syndrome: recessive osteopetrosis with renal tubular acidosis and cerebral calcification.

Four new Saudi Arabian cases of the carbonic anhydrase II deficiency syndrome from two families are described. This autosomal recessive syndrome includes osteopetrosis with renal tubular acidosis and cerebral calcification. Additional features are mental retardation, growth failure, typical facial appearance, and abnormal teeth. Two patients showed evidence of restrictive lung disease, a finding not previously described. One of the patients reported represents the first neonate reported to be affected with this syndrome. Intrauterine growth was normal, but metabolic acidosis was already evident in the neonatal period. Radiographic evidence of osteopetrosis was probably absent at birth but appeared during the late neonatal period. Carbonic anhydrase II deficiency was demonstrated in erythrocyte hemolysates from the older two siblings of this neonate, and a 50% normal level of carbonic anhydrase II was demonstrated in the erythrocyte hemolysate from their father.

Acidosis, Renal Tubular↗
PubMed1985

Neonatal aspiration syndrome due to vernix caseosa.

Fetal aspiration of meconium in amniotic fluid is a well-known cause of respiratory distress in newborn infants. It causes an irregular, coarse, nodular pattern on chest radiographs. Less known is that aspiration of vernix caseosa causes a similar syndrome. We present a post-mature infant in whom aspiration of vernix caseosa caused respiratory distress, ventilatory difficulty, and radiographic changes essentially the same as in aspiration of meconium.

Humans↗
PubMed1985

Intracranial calcification in children with osteopetrosis caused by carbonic anhydrase II deficiency.

Radiographs of 18 children thought to have carbonic anhydrase II deficiency were reviewed to assess intracranial calcification. These children have an autosomal recessive syndrome consisting of osteopetrosis, renal tubular acidosis, intracranial calcification, and developmental retardation. This calcification is in the gray matter of cortex and basal ganglia and is similar, if not identical, to that seen in hypoparathyroidism and pseudohypoparathyroidism. It is not present at birth but appears at approximately 2-5 years of age and increases in density and extent through childhood.

Acidosis, Renal Tubular↗
PubMed1985

Neonatal pneumonia caused by Branhamella catarrhalis.

A 15-day-old, prematurely born male infant with bronchopneumonia caused by Branhamella catarrhalis is reported. One case of ophthalmia neonatorum was the only report found of B. catarrhalis infections in neonates when the literature was reviewed.

Bacterial Infections↗
PubMed1984

Nephrocalcinosis in Bartter's syndrome. Demonstration by ultrasonography.

Nephrocalcinosis in Bartter's syndrome has been recognized since 1962, but has not previously been shown in an infant with the syndrome. Ultrasonography shows striking echogenicity of the renal pyramids which appears to be a specific finding in medullary nephrocalcinosis. We suspect nephrocalcinosis will be found in many infants with Bartter's syndrome if ultrasonography is used to examine their kidneys.

Bartter Syndrome↗
PubMed1984

A variant of Bartter's syndrome. Bartter's syndrome associated with hydramnios, prematurity, hypercalciuria and nephrocalcinosis.

A case of early onset Bartter's syndrome associated with hydramnios, prematurity, hypercalciuria and nephrocalcinosis is reported. A literature review of Bartter's syndrome supports the hypothesis that the findings in this infant constitute a specific variant of Bartter's syndrome inherited in an autosomal recessive mode. Fetal polyuria in Bartter's syndrome leads to hydramnios, and the excess fluid causes premature birth. This variant of Bartter's syndrome should be included in the differential diagnosis of hydramnios, especially if the woman has had previous hydramnios resulting in a perinatal death. The disorder responds to treatment with indomethacin.

Bartter Syndrome↗
PubMed1984

Fetal polyuria and hydramnios associated with Bartter's syndrome.

The case of a woman with recurrent hydramnios in three pregnancies, from which the only surviving infant was later found to have Bartter's syndrome, is described. Analysis of electrolytes, renin activity, and aldosterone levels in amniotic fluid from this pregnancy are presented. The finding of maternal hydramnios in the present and 12 other reported cases of Bartter's syndrome suggests that increased fetal voiding is the most likely causative factor in the development of increased amniotic fluid volume. Early onset hydramnios might signify Bartter's syndrome in the offspring in families with an index case. In cases of hydramnios of unknown etiology, appropriate investigations might lead to early diagnosis and treatment of Bartter's syndrome.

Adult↗
PubMed1983

Reproductive medical care in Sweden and the Province of Ontario, Canada. A comparative study.

Reproductive medical care in Ontario, Canada and in Sweden are compared. Accurate statistical information is more readily available for Sweden. The perinatal mortality is significantly higher in Ontario. The populations are comparable in size. Except for a higher percentage of first generation immigrants in Ontario, the composition of the childbearing population is very similar. The percentage of low birth weight infants is higher in Ontario. Swedish governmental authorities realized in the 1930's that social reforms and preventive antenatal care could reduce perinatal mortality and morbidity and regionalization of perinatal care started several decades ago. A difference in attitude towards pregnant women is reflected in the fact that in Sweden, the maternal benefit is paid under the Health and Social Insurance system, whereas in Ontario it is paid by the Department of Employment and Immigration. The highly specialized neonatal and perinatal units in Ontario have outstanding results, and could serve as models to improve the care of the very low birth-weight infants in Sweden, as could the transport system for high-risk mothers and infants in Ontario. If the advantages of each of the two systems for perinatal care in Ontario and Sweden were combined excellent perinatal statistics would be expected, including a decreased incidence of handicap.

Child, Preschool↗
PubMed1982

Single dose kinetics of deuterium labelled delta 1-tetrahydrocannabinol in heavy and light cannabis users.

Deuterium labelled delta 1-tetrahydrocannabinol was administered intravenously (5.0 mg) and by smoking (10.0 mg) to five heavy and four light marihuana users. All subjects smoked an estimated amount of 8.6-9.9 mg delta 1-tetrahydrocannabinol. The plasma levels of delta 1-tetrahydrocannabinol were followed for 48 hours and in two subjects fof 72 hours after administration. The systemic availability after inhalation calculated from the area under curve values was in the range of 27 +/- 10% for the heavy users and 14 +/- 1% for the light users. There was little difference between the groups with regard to the amount of smoked delta 1-tetrahydrocannabinol or plasma levels and area under curve values obtained after i.v. administration. Thus, it seems likely that the statistically significant difference in systemic availability of smoked delta 1-tetrahydrocannabinol was due to a more efficient smoking by the heavy users. It is also indicated that heavy users prefer slightly higher delta 1-tetrahydrocannabinol plasma levels than light users. Based on the area under curve values after i.v. administration, a plasma clearance of 760-1190 ml min-1 was calculated. The elimination half-life of delta 1-tetrahydrocannabinol is more than 20 hours. The present results do not suggest that tolerance or sensitivity to delta 1-tetrahydrocannabinol in heavy users is readily achieved.

Adolescent↗
PubMed1982

Organic aciduria in neonatal multiple carboxylase deficiency.

A Samoan patient and a Saudi-Arabian patient were found to have abnormalities in the pattern of organic acid metabolites characteristic of 3-methylcrotonylglycinuria, propionic acidaemia and lactic acidosis. Both patients died early in life. The metabolic pattern is diagnostic of multiple carboxylase deficiency and an enzymatic diagnosis was made in a subsequent affected sibling of the first patient. Deficiency of the three carboxylases suggests a primary defect in the metabolism of biotin which is required for their activity. The importance of the recognition of the clinical picture is highlighted by the fact that this lethal disease is readily treated with biotin. These patients have prominent skin lesions which can serve as alerting signs for the diagnosis.

Carboxylic Acids↗
PubMed1981

Clinical effects and plasma levels of delta 9-tetrahydrocannabinol (delta 9-THC) in heavy and light users of cannabis.

delta 9-Tetrahydrocannabinol (delta 9-THC) was administered in a crossover design by smoking and IV injection to groups of heavy and light users of marihuana. Plasma concentrations of delta 9-THC were similar for the groups after IV injection of 5.0 mg delta 9-THC, but the AUC0-240 min showed a trend towards lower values for the heavy user group. To achieve a maximum desired "high", both groups smoked similar amounts (about 13 mg) of delta 9-THC. Heavy users tended to have higher plasma levels than light users. The systemic availability of smoked delta 9-THC was significantly higher for the heavy users (heavy users 23 +/- 16% vs 10 +/- 7% for light users). These results also indicate that heavy cannabis users smoke more efficiently than casual smokers. Both light and heavy users showed more clinical effect following IV administration than after smoking. The response of the heavy users, both with respect to effect on heart and "high", was quite comparable to that of light users. The present study does not suggest that tolerance readily develops in heavy users.

Adult↗
PubMed1981

Acrodermatitis enteropathica Reversibility of cerebral atrophy with zinc therapy.

A six-month-old Saudi boy with acrodermatitis enteropathica confirmed by low serum zinc and alkaline phosphatase levels is described. Both the patient and a sibling developed acrodermatitis enteropathica while entirely breastfed. The mother had low serum zinc levels. Cranial computed tomography initially showed marked central and cortical "atrophy" that improved on treatment with zinc sulphate. The importance of zinc for normal brain growth and function is well known and the improvement on cranial computed tomography could be explained by improved myelination.

Acrodermatitis↗
PubMed1981

Neonatal septicemia in Riyadh, Saudi Arabia.

Twenty-nine cases of neonatal septicemia from Saudi Arabia are described. A high incidence of prematurity (45%) and congenital malformations (45%) were found as predisposing factors. The mortality was 45%, mainly due to severe malformations and late referrals. Thirty-one percent of the cases grew Salmonella enteritidis species and one case of Bacteroides fragilis septicemia and meningitis is reported. Only two of the organisms isolated were sensitive to ampicillin. The importance of doing studies on neonatal septicemia on a local basis is stressed.

Bacteroides fragilis↗