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Biomedical subjects

F A Beemer

Publications and source records attributed to F A Beemer.

At least 109 records · Page 6Linked to original sources
PubMed1988

Esterase D: evaluation of a potential derived gene marker for hereditary retinoblastoma.

The gene locus of esterase D is closely linked to that coding for retinoblastoma. When the occurrence of retinoblastoma is based on a chromosome deletion, red cell esterase D might be a potential tumor marker for diagnosing retinoblastoma. This diagnostic utility was tested by measuring total esterase D and differentiating esterase D to its different phenotypes in red cells of patients with bilateral retinoblastoma, unilateral retinoblastoma having a positive family history and unilateral sporadic retinoblastoma. These results are compared with the findings within a group of first degree relatives of these patients and of a reference group of apparently healthy controls. A poor sensitivity and a low positive predictive value were found. So, the conclusion might be drawn that screening of all retinoblastoma patients for esterase D in order to get insight in the weighting of risk of retinoblastoma is very much open to question and due to high cost efficiency ratio might not be recommended.

Carboxylesterase↗
PubMed1988

The diagnostic management of newborns with congenital contractures: a nosologic study of 75 cases.

A prospective clinical study is presented of 75 patients with multiple congenital contractures. With the data from medical history, child neurologic examinations, laboratory tests including chromosome and dermatoglyphic analysis, and neuropathology in 23 cases with perinatal death, a nosological or syndromal diagnosis was made in 61 cases. These cases were classified by localization of causal pathology in the categories "cerebral dysgenesis", spinal cord defects, neuromuscular disorders and miscellaneous disorders without muscle weakness. Following this concept, the various modes of inheritance of specific disorders presenting with congenital contractures, as well as possibilities for prenatal diagnosis by ultrasonography are discussed. A guideline for the child neurologic evaluation of infants with congenital contractures is proposed. It is concluded that: 1) specification of the causal lesion and proper classification of disorders with congenital contractures is crucial for genetic counseling, (prenatal) diagnosis and management; 2) the analysis of dermatoglyphics in differential diagnosis of congenital contractures should be restudied; and 3) more study and experience is required in the observation of abnormal or decreased fetal movements by ultrasonography.

Brain↗
PubMed1988

Fibroblasts from a leprechaun patient have defects in insulin binding and insulin receptor autophosphorylation.

Leprechaunism is an inherited human disorder associated with an extreme resistance of the target cells towards the action of insulin. We have examined the properties of the insulin receptor in fibroblasts from a leprechaun patient (Geldermalsen, the Netherlands). In vitro, severe insulin resistance is reflected by a low level of insulin stimulated uptake of 2-deoxyglucose by these fibroblasts. This defect seems to be caused by a combination of two factors: a low level of insulin binding to intact cells and a strong decrease of insulin stimulated autophosphorylation of the receptor. The stimulation of autophosphorylation by insulin was approximately six-fold in control subjects and less than two-fold in the patient. No abnormalities were observed in the total number of insulin receptors in these cells and the molecular weights of the receptor subunits. In addition, the insulin concentration required for half maximal autophosphorylation is similar for the solubilised receptor from control and patient fibroblasts.

Cells, Cultured↗
PubMed1988

3-Methylglutaconic aciduria: a phenotype in which activity of 3-methylglutaconyl-coenzyme A hydratase is normal.

3-Methylglutaconic aciduria has been found in two distinct syndromes. In one there is deficient activity of 3-methylglutaconyl coenzyme A hydratase, and the only clinical manifestation observed has been retardation of speech development. In the other, which includes a majority of the patients studied, we document that the activity of this enzyme in fibroblast extracts is normal. The phenotype of this disorder is one of profound neurological impairment with retarded psychomotor development, hypotonicity and/or spasticity, convulsions or EEG abnormalities, and sensorineural changes in the eye and ear.

Chemical Phenomena↗
PubMed1988

Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis.

Clinical and biochemical data are presented on eight children with adenylosuccinase deficiency. This newly discovered inborn error of purine metabolism is characterized by an accumulation in body fluids of succinyladenosine (S-Ado) and succinylaminoimidazole carboxamide riboside (SAICA riboside), the dephosphorylated derivatives of the two substrates of adenylosuccinase. Six living children (three boys and three girls) and one deceased sibling displayed severe psychomotor retardation. Epilepsy was documented in five cases, autistic features in three, and growth retardation associated with muscular wasting in a brother and sister. In the cerebrospinal fluid, plasma and urine of these patients, the S-Ado/SAICA riboside ratio was between 1 and 2. In striking contrast, the eighth patient (a girl) was markedly less mentally retarded. Most noteworthy, the S-Ado/SAICA riboside ratio in her body fluids was around 5, suggesting that her milder psychomotor retardation was causally linked to this higher ratio. Adenylosuccinase deficiency was demonstrated in the liver of all seven living children, in the kidney of three patients in whom the enzymatic activity was measured, and in the muscle of three patients, including the two with muscular wasting. In fibroblasts of the six severely retarded patients, adenylosuccinase activity was reduced to approximately 40% of normal; in the patient with the higher S-Ado/SAICA riboside ratio, it reached only 6% of normal. The clinical heterogeneity of adenylosuccinase deficiency justifies systematic screening for the enzyme defect in unexplained neurological disease.

Adenylosuccinate Lyase↗
PubMed1988

"New syndromes," Part II: "European" syndromes.

This report surveys literature on four syndromes with major manifestations in the craniofacial region, i.e., Laband syndrome, de Barsy syndrome, Wiedemann-Rautenstrauch syndrome, and LADD syndrome. In general, these four syndromes are better described in the European than in the North American literature. In addition, we report on a newly diagnosed woman having the Laband syndrome and normal intelligence. Finally, we describe a possibly "new" craniofacial syndrome in a mother and her son.

Disease↗
PubMed1987

Gingival fibrinoid deposits in Ehlers-Danlos syndrome.

A 7-year-old girl is described with Ehlers-Danlos syndrome Type VIII. Symptoms mainly consisted of rapid breakdown of the periodontal tissues. The gingiva exhibited the presence of peculiar previously unidentified cell-poor masses resembling fibrin by their staining properties. Possibly, this histologic feature may be a diagnostic aid in Ehlers-Danlos syndrome Type VIII.

Child↗
PubMed1987

D-glyceric acidemia: an inborn error associated with fructose metabolism.

A mentally retarded girl with epileptic seizures is described. Urinary organic acid screening revealed a massive excretion of glyceric acid, a normally barely detectable metabolite. Hyperglycinemia was not observed. Capillary gas chromatography of the O-acetylated (-)-menthyl ester of urinary glyceric acid showed the substance to have the D-configuration. The urinary D-glycerate excretion remained unaltered after an oral load with 200 mg/kg L-serine, but oral loading with fructose (1 g/kg) or dihydroxyacetone (1 g/kg) caused a sharp increase of the D-glycerate excretion. Treatment with a diet moderately restricted in fructose led to some clinical improvement as judged by subjective criteria. The metabolic lesion is thought to be located at some step of the fructose catabolic pathway, possibly at the level of hepatic triokinase deficiency.

Carbohydrate Metabolism, Inborn Errors↗
PubMed1987

Non-ocular cancer in hereditary retinoblastoma survivors and relatives.

An epidemiological survey has been carried out to establish the incidence of second malignant neoplasms in hereditary retinoblastoma survivors in The Netherlands and the relative risk of cancer in non-affected relatives. The cumulative incidence of second neoplasms was 19% at the age of 35 years. Fathers, unaffected by retinoblastoma, were at risk for pancreatic cancer, the relative risk being 8.3.

Eye Neoplasms↗
PubMed1986

Congenital hypothalamic hamartoma associated with severe midline defect: a developmental field defect. Report of a case.

We describe a median "cleft" face anomaly (MCFA) with congenital hypothalamic hamartoma in a newborn girl. The MCFA was associated with a frontal midline skull lipoma and a complex congenital heart defect. Possible pathogenetic mechanisms are discussed, and a review of the pertinent literature is given. It is concluded that probably all malformations in our patient are disturbances of a single developmental field defect, ie, the midline.

Brain↗
PubMed1986

The Aase syndrome. Case report and review of the literature.

A 5-month-old boy with congenital hypoplastic anaemia and triphalangeal thumbs, known as the Aase syndrome, is described. In addition he had unilateral cleft lip and palate and abnormal dermatoglyphics. Only ten cases have been reported previously; these are reviewed. This case is the third patient reported to have the Aase syndrome who also has a cleft lip. Bone marrow cultures failed to stimulate production of erythropoietic precursors.

Anemia, Dyserythropoietic, Congenital↗
PubMed1986

The velo-cardio-facial (Shprintzen) syndrome. Clinical variability in eight patients.

Eight patients (three sporadic, five from two families) with the velo-cardio-facial syndrome (VCFS) or Shprintzen syndrome are reported. Major clinical findings of this syndrome include a characteristic pattern of facial dysmorphisms, cleft palate, cardio-vascular malformations, and (mostly mild-to-moderate) mental retardation or learning difficulties. The syndrome probably is caused by a dominant gene with very variable expression. From previous reports mostly ascertained from cardio-vascular or cleft palate clinics, the incidence of cleft palate and heart defects was calculated to be 98% and 82%, respectively. Out of eight patients of this study who were diagnosed mainly through their pattern of facial dysmorphisms, only two and four had clefts and heart defects, respectively, further demonstrating the variability in the expression of this gene. Similarly, mental retardation, noted in 100% of previous publications, was not present in all of our patients. In two instances, examination of the mother revealed that she probably carried the mutant gene, but that she showed a milder clinical expression than the index patient. It is suggested that careful family investigations should be performed following detection of an index patient, and that the rate of fresh mutations might be not as high as previously assumed.

Abnormalities, Multiple↗