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Biomedical subjects

J Brismar

Publications and source records attributed to J Brismar.

At least 19 recordsLinked to original sources
PubMed1992

Saudi variant of multiple sulfatase deficiency.

We describe eight patients with multiple sulfatase deficiency (MSD, or Austin's disease) who differ phenotypically from classic neonatal-, childhood-, or juvenile-onset MSD. The age of onset was in childhood. The patients presented with somatic and facial features of mucopolysaccharidosis reminiscent of Maroteaux-Lamy and Morquio syndromes. They differed from classic MSD by the presence of corneal cloudiness, macrocephaly, severe dysostosis multiplex, and gibbus and the absence of ichthyosis, retinal degeneration, severe deafness, severe mental retardation, and dementia. The main neurologic presentation was cervical cord compression due to axis abnormalities. Despite neuroradiologic evidence of white-matter changes, neurologic presentation was not like metachromatic leukodystrophy. The sulfatase deficiencies were more marked than in the classic juvenile form of MSD, but less marked than in the classic childhood-onset form of MSD. Steroid sulfatase activity was spared except in one patient. This Saudi variant of MSD accounts for 5% of all lysosomal storage diseases in the Cell Repository Registry of our Inborn Errors of Metabolism Laboratory.

Child↗
PubMed1992

CT and MRI of the brain in inherited neurometabolic disorders.

The incidence of many autosomal recessive neurometabolic disorders is very high in Saudi Arabia, probably as a result of the frequency of consanguineous marriages. Because our hospital is the main referral center for the entire Kingdom, we examine a large number of patients who have a wide spectrum of neurometabolic disorders. We add our experience and review the world literature. Though a specific diagnosis is radiologically possible in a few disorders, the diagnosis must always be verified biochemically. When the patient is referred from a pediatric neurologist with the diagnosis of neurometabolic disorder, the aim of the neuroradiologist is to determine the amount of brain damage present and to follow the response to given therapy. When the patient is referred with a nonspecific diagnosis, such as delayed development, the aim is to suggest the possibility of a neurometabolic disorder and to initiate further evaluation including possible therapy and genetic counseling.

Brain↗
PubMed1991

3-Hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase deficiency in Saudi Arabia.

Deficiency of 3-hydroxy-3-methylglutaryl-CoA lyase has been studied in 11 Saudi infants. The diagnosis was established by the measurement of enzyme activity in lymphocytes, in fibroblasts and, in seven patients, by the gas chromatography/mass spectrometer pattern of excreted organic acids in the urine. In seven infants the disease caused a devastating acidotic attack within the first day of life, while in two the crisis occurred by the third day of life. In two infants from one family the disease appeared later in infancy. The clinical presentation of an acidotic attack is lethargy, hyperpnoea, tachypnoea and seizures, either at birth (two infants), following first feeding (in five infants), or following vomiting or refusal of food in later infancy. The acidotic attacks recurred later in life following minor illness or refusal to eat. The acidosis of this enzyme deficiency progresses rapidly, leading to cardiopulmonary arrest and death within hours of onset unless treated promptly. In four surviving infants diagnosed and treated early, development is normal. Magnetic resonance and computerized tomography brain scans in these infants, however, show white matter lesions and mild atrophy.

Acidosis, Lactic↗
PubMed1991

Miscellaneous adverse effects of low-versus high-osmolality contrast media: a study revised.

The authors analyzed data from two recent articles in Radiology in which the quality and results of randomized control trials (RCTs) comparing the efficacy or safety of the low-osmolality contrast media (LOM) iopamidol, iohexol, and ioxaglate with that of the high-osmolarity contrast media (HOM) diatrizoate, iodamide, iopamide, iothalamate, and metrizoate were assessed. One conclusion in the source articles was that no differences were seen between the two groups of contrast media in frequency of nausea, vomiting, and urticaria. However, the LOM group included both nonionic LOM (NIM) and the ionic contrast medium ioxaglate. The authors found that various complications associated with the use of contrast media were much less common with NIM than with HOM; statistically this lower frequency is highly significant. This difference was obscured in the previous studies by the pooling of RCTs in which the less toxic NIM were used and RCTs in which the more toxic ionic contrast medium ioxaglate was used.

Contrast Media↗
PubMed1991

Biopterin-dependent hyperphenylalaninemia due to deficiency of 6-pyruvoyl tetrahydropterin synthase.

We describe the clinical, neurologic, and biochemical findings in 10 patients with 6-pyruvoyl tetrahydropterin synthase (6-PTS) deficiency from seven families, all of whom originate from one large tribe in Saudi Arabia. This deficiency presents with severe, early onset of failure to thrive, neurologic deterioration, and morbidity and mortality secondary to repeated episodes of bronchopneumonia or cardiorespiratory abnormalities. The urinary pterin excretion pattern indicates deficient activity of 6-PTS, which has been confirmed by direct enzyme assay in red blood cells of three patients. We treated our patients with combined use of tetrahydrobiopterin 20 mg/kg/d, L-dihydroxyphenylalanine 15 mg/kg/d, carbidopa 3.75 mg/kg/d, and L-5-hydroxytryptophan 5 mg/kg/d. Neurologic findings improved significantly in all after 5 to 24 months. Although head circumference and weight returned to the lower limit of normal in four, height normalized only in one of seven patients. Despite an unrestricted diet during combined therapy, blood phenylalanine and urinary excretion of neopterin and biopterin returned to normal.

Alcohol Oxidoreductases↗
PubMed1990

Infantile CNS spongy degeneration--14 cases: clinical update.

We studied 14 Arab infants with infantile spongy degeneration, 13 of whom were products of consanguineous marriages. They presented in infancy with macrocephaly, poor visual behavior or blindness, and axial hypotonia with appendicular spasticity. Brain CT and MRI showed diffuse symmetric leukoencephalopathy, even before neurologic symptoms. There were relatively normal EEGs. The visual evoked responses (P100) were either absent or delayed early in the course. The brainstem auditory evoked responses showed milder abnormalities, with loss of later components before the earlier ones. Deficient aspartoacylase activity in cultured fibroblasts or brain biopsy confirmed the diagnosis in all patients.

Amidohydrolases↗
PubMed1990

The significance of 'no significant difference'.

It is generally accepted that patients experience less discomfort with low osmolality contrast media (LOM) than with high osmolar media (HOM). Hard statistical facts from so called 'high quality' controlled trials, proving that more significant reactions such as vomiting, hives, urticaria or anaphylactic complications also are less common with LOM are, however, not readily available (3). One reason for this may be that most of the well designed controlled studies performed may have been tailored by the drug manufacturer for a specific purpose: to fulfil the format requirements for registration by the licensing governmental authorities. For this the sponsor, to save time, usually engages several medical centres, each only performing 15 to 60 studies (4). Materials of such a size are of course much too small to reveal any change in the frequency of a complication occurring with an incidence of only a few per cent or less. The absence of a statistically significant difference in such low incidences of complications does not justify any conclusion. The question then arises: how big a material would be needed to obtain a fair chance to statistically verify a clinically highly important decrease in the incidence of a complication from, for instance, 10 to 5 per cent? This paper deals with such questions.

Clinical Trials as Topic↗
PubMed1989

Stable pubic fractures in the elderly. The association with sacro-iliac injuries.

A consecutive series of 17 elderly patients with radiological or clinical suspicion of pubic fractures were investigated with bone scintigraphy using 99mTc-methylene diphosphonate. All had an increased isotope uptake over the pubic bone and also over the sacro-iliac region, except in one patient where the sacro-iliac uptake could not be assessed. The isotope uptake was slightly increased in nine patients and markedly so in seven. Computed tomography was performed in three cases. In two who showed a marked increased isotope uptake, fractures adjacent to the sacro-iliac joint could be demonstrated, and in one with only slightly increased uptake, no fracture was found.

Aged↗
PubMed1987

Cerebrovascular and metabolic changes during the delayed vasospasm following experimental subarachnoid hemorrhage in baboons, and treatment with a calcium antagonist.

A model has been designed in baboons for simulating the clinical situation during the late phase of vasospasm in patients with subarachnoid hemorrhage (SAH). A total amount of 14-33 ml autologous blood was injected into the cisternal system on 3 occasions in the course of 4 days. Neurological symptoms were seen, and the mortality rate was 29%. Angiography 3 days after the last injection showed arterial vasoconstriction amounting to 23% in the vertebro-basilar system, and 11% (right) and 18% (left) in the carotid system. Cerebral blood flow (CBF) measured by the intra-arterial 133Xe technique and the cerebral metabolic rate of oxygen (CMRO2) were reduced by 18% and 11%, respectively. The hypercapnic CBF response was significantly impaired, from a mean of 3.90 ml/100 g/min to 1.72 ml/100 g/min of flow increase for each mm Hg elevation of paCO2. Autoregulation, tested by administration of angiotensin II, was also significantly affected as evidenced by a pressure-dependent increment of CBF during hypertension in 5 out of 7 animals tested. The impaired autoregulation was reflected in the autoregulatory index, which in the whole group increased from 0.06 ml/100 g/min for each mm Hg increase in MABP in the pre-SAH animals to 0.29 ml/100 g/min per mm Hg post-SAH. Treatment with the calcium antagonist, nimodipine (0.5 microgram/kg/min i.v. during 45 min), enhanced CBF significantly by 17% before experimental SAH, whereas after SAH the effect was slight and did not reach statistical significance; CMRO2 was not significantly affected in either group. Intravenous nimodipine combined with hypertension resulted in a marked increase in the autoregulatory index to 1.58 ml/100 g/min per mm Hg in pre-SAH animals and a less pronounced increment to 0.58 ml/100 g/min per mm Hg following experimental SAH. The beneficial effect of nimodipine reported in SAH patients is therefore, in view of our findings, more likely due primarily to a protective mechanism at the cellular level than to an influence on the vascular bed.

Animals↗
PubMed1987

Esophageal dysfunction and radionuclide transit in progressive systemic sclerosis.

Sixty patients with progressive systemic sclerosis (PSS) were studied by radionuclide esophageal transit (RT) and esophageal cineradiography. Fifty-two patients (87%) had abnormal RT with prolonged transit time and 28 (47%) had stagnation of radionuclide. RT was positively correlated to duration of disease (p less than 0.01). A positive correlation between transit time and the presence of dysphagia was observed. Reduced esophageal motility evaluated by cineradiography was observed in 44 patients (73%). In patients with moderate-severe esophageal dysfunction there was a positive association between prolonged RT and hypomotility at the radiological examination (p = 0.001). RT is a safe and non-invasive method which is more sensitive than cineradiography and might be used as a screening test to evaluate esophageal involvement in patients with PSS.

Adult↗
PubMed1986

Intra-arterial mitomycin C and intravenous bleomycin as induction chemotherapy in advanced head and neck cancer--a phase II study.

Fifty-six patients with previously untreated, unresectable squamous cell carcinomas of the head and neck region were treated with repeated intra-arterial chemotherapy with mitomycin C using a selective or super-selective angiographic technique, and bleomycin given i.v., followed by radical radiotherapy. In addition, restricted tumour-reductive surgery was done in 18 of these patients. The response rate (CR + PR) after completion of the integrated treatment was 89%, with 63% of the patients showing CR. The toxicity of this regimen was, however, far from negligible. The median survival for this series of patients with advanced head and neck cancers is 19 months, and 17 are still alive after 16 + -66 + months.

Aged↗
PubMed1986

Drug-induced arterial spasm relieved by lidocaine. Case report.

Following major intracranial surgery in a 35-year-old man, sodium pentothal was intravenously infused to minimize cerebral ischaemia. Intense vasospasm with threatened gangrene arose in the arm used for the infusion. Since the cranial condition precluded use of more usual methods, lidocaine was given intra-arterially, with careful cardiovascular monitoring, to counteract the vasospasm. The treatment was rapidly successful.

Adult↗
PubMed1985

The effect on the development of cerebral vasospasm in the rat of lesioning of the peripheral and central catecholamine systems.

An experimental SAH was produced in the rat by the intracisternal injection of blood. The animals were examined with bilateral vertebral angiography or autoradiographic CBF- and CMRgI-studies. A biphasic vasospasm was seen with a maximal acute spasm at ten minutes and a maximal late spasm at two days post SAH. On day two post SAH, CBF studies demonstrated focal low flow areas in the cortex and caudate-putamen. The CMRgI examinations revealed focal areas with deoxyglucose accumulation corresponding to the low flow areas, suggesting an anaerobic glycolysis. Adrenal demedullation did not change the degree of spasm. Cranial sympathectomy reduced the degree of late spasm by about 50%. Lesioning of the ascending CA pathways in the mesencephalon prior to the SAH, prevented the development of both the acute and the late spasm. It also prevented the development of the focal CBF and CMRgI changes.

Adrenal Medulla↗
PubMed1985

Transient ischaemia of the proximal femoral epiphysis in the child. Interpretation of bone scintimetry for diagnosis in hip pain.

99mTc-MDP-scintimetry was performed in 25 consecutive cases of radiographically silent transient synovitis of the hip in children. Fourteen cases had normal scintimetry; seven cases had an increased uptake in the epiphysis; four cases had markedly defective uptake in the epiphysis, indicating interrupted vascular supply. At repeat scintimetry 6 weeks later, the uptake was normal or increased in three of these four cases; the one case with a persistent defect was the only case in this series who later developed radiographic evidence of Legg-Calvé-Perthes' disease. In some cases presenting with clinical symptoms of synovitis of the hip, there is a transient, spontaneously recovering ischaemia of the proximal femoral epiphysis, not followed by radiographic evidence of necrosis. This should be considered in attempts to make a pre-radiographic diagnosis of Legg-Calvé-Perthes' disease by radionuclide methods.

Child↗
PubMed1979

Benign brainstem hematoma.

Brainstem hematoma is generally considered a very rare condition with a grave prognosis. This report presents two patients with extensive brainstem hematomas who both recovered without major sequele. A brainstem hematoma is often impossible to differentiate from an infarction despite angiographic and cerebrospinal fluid examinations, but is readily disclosed by computerized tomography. It is suggested that the seriousness of the prognosis in brainstem hematoma may earlier have been exaggerated as there may have been a tendency to classify cases exhibiting a good recovery as infarcts, while the diagnosis hematoma was reserved for cases verified at autopsy.

Adult↗
PubMed1979

Computer tomography as the primary radiologic procedure in acute subarachnoid hemorrhage.

CT was performed in 149 patients with acute subarachnoid hemorrhage and clinical findings consistent with an aneurysm rupture, and was found informative in most cases when performed within one week after the hemorrhage. CT disclosed in 29 per cent of cases other causes for the hemorrhage than a ruptured aneurysm (intracerebral hemorrhage, tumor, trauma, infarct) and an extensive angiographic evaluation could be omitted. In those patients where the hemorrhage was caused by an aneurysm rupture, the distribution of extravasated blood in the subarachnoid space and the brain parenchyma usually indicated the aneurysm location--angiography could thus be restricted to the proper vessel. These capabilities of CT are sufficient to economically motivate its routine use as the primary investigation in cases with an acute subarachnoid hemorrhage.

Acute Disease↗