PubMed Health⌕ Search

Biomedical subjects

F A Beemer

Publications and source records attributed to F A Beemer.

At least 73 records · Page 4Linked to original sources
PubMed1995

[Incidence and prevalence of hemoglobinopathies in children in The Netherlands].

OBJECTIVE: To evaluate the prevalence and incidence of thalassaemia major and sickle-cell disease in children. DESIGN: Descriptive nationwide epidemiological study. SETTING: Clinical Genetic Centre Utrecht. METHOD: Prevalence data were collected by a written survey among all 333 Dutch paediatricians (1992; response rate 99.1%). Incidence data are collected monthly by the Dutch Paediatric Surveillance Unit (1992/'93; response rate: 86%). RESULTS: In September 1992, 128 children were being treated by a paediatrician for sickle-cell disease. Two children had parents born in the Netherlands, but all children were of other ethnic origins, mainly from Surinam, the Dutch Antilles, Turkey and Africa; 50 children were born in the Netherlands. 31 children were under treatment for thalassaemia major, none of them of original Dutch descent; the most frequent ethnic backgrounds were Turkey and Morocco; 20 children were born in the Netherlands. From October 1992 till December 1993 (15 months) 18 children were newly diagnosed with sickle-cell disease, of whom 7 were born in the Netherlands, and 8 children were newly diagnosed with thalassaemia major, of whom 2 were born in the Netherlands. CONCLUSION: Sickle-cell disease and thalassaemia major are (still) rare diseases in the Netherlands. With the present migration and the increase of consanguineous marriage, they are expected to become a more important health issue.

Adolescent↗
PubMed1995

Autosomal-recessive inheritance of benign recurrent intrahepatic cholestasis.

Benign recurrent intrahepatic cholestasis (BRIC) is a rare disorder characterized by recurrent episodes of cholestasis without permanent liver damage. Familial and sporadic cases have been described. Based on existing evidence, both autosomal-recessive and autosomal-dominant inheritance have been considered. We describe a large Dutch pedigree with 4 patients, strongly suggesting autosomal-recessive inheritance.

Cholestasis, Intrahepatic↗
PubMed1995

Familial cutaneous cylindromas: investigations in five generations of a family.

BACKGROUND: Multiple cutaneous cylindromas are probably inherited in an autosomal dominant way. OBJECTIVE: Our purpose was to describe a large family with cutaneous cylindromas, trichoepitheliomas, and milia occurring in five generations and to elucidate further the mode of inheritance. METHODS: We examined 39 family members and obtained information on 31 other members from reports of relatives. RESULTS: The pedigree included 237 members, 118 male and 119 female, with 30 affected patients (11 male, 19 female). Between 33% and 100% of the children of affected family members had one or more of these skin lesions. Female-to-female, female-to-male, male-to-female, and male-to-male inheritance occurred. CONCLUSION: Multiple cutaneous cylindromas are inherited in an autosomal dominant way with variable clinical expression. Penetrance reaches 100% in adult life. This condition is associated with trichoepitheliomas and milia.

Adenoma↗
PubMed1995

Dutch variant of Bellini metaphyseal dysplasia: report of two siblings.

Two sibling girls with cone-shaped knee epiphyses and metaphyses are described. Bone dysplasia with this rare, distinctive, radiographic finding, was first reported by Bellini and Bardare with only few cases reported thereafter. Velores et al. divided bone dysplasias with cone-shaped epiphyses and metaphyses of the knee in two entities which they named trichoscyphodysplasia and metaphyseal acroscyphodysplasia. Although the authors agree that there is more than one bone dysplasia that presents with these distinctive radiographic knee appearances, they consider that two few cases have been reported to satisfactorily classify this group of disorders.

Bone Diseases, Metabolic↗
PubMed1995

Desbuquois syndrome: three further cases and review of the literature.

We report three further patients with similar clinical signs to those described by Desbuquois et al. (Desbuquois G, Grenier B, Michel J, Rossignol C (1966): Arch Fr Pédiatr 23; 573-587) Two of the patients were born to consanguineous parents, confirming autosomal recessive inheritance of this condition. The patients presented with micromelic short stature, flat midface, irregular ossification of the vertebral bodies and an advanced bone age.

Abnormalities, Multiple↗
PubMed1994

Intermittent hair loss in a child with PIBI(D)S syndrome and trichothiodystrophy with defective DNA repair-xeroderma pigmentosum group D.

We describe a girl with photosensitivity (P), ichthyosis (I), brittle hair (B), impaired intelligence (I), possibly decreased fertility (D), and short stature (S). The clinical findings fit into the PIBI(D)S syndrome and trichothiodystrophy. A remarkable and probably unique observation for this disorder was the intermittent character of the scalp hair loss during infectious periods in this patient. Easy suntanning suggested photosensitivity and prompted DNA repair studies which demonstrated reduced UV-induced DNA repair synthesis. Subsequent studies have assigned this patient to xeroderma pigmentosum group D and suggested a specific deficiency of 6-4 photoproduct repair. An unaffected child was diagnosed in the next pregnancy of the mother.

Alopecia↗
PubMed1994

Additional case of opsismodysplasia supporting autosomal recessive inheritance.

The authors describe clinical and radiological findings in a 2-year-old boy from consanguineous parents. A diagnosis of opsi(s)modysplasia (= delayed maturation) had been made (MIM 258480). The purpose of this paper is to draw attention to the striking radiological manifestations. Consanguinity in the parents of our case and occurrence in a brother and sister in a previous report support an autosomal recessive transmission.

Bone Diseases, Developmental↗
PubMed1994

Reductions in size and left-right asymmetry of teeth in human oligodontia.

Tooth size and left-right asymmetry of tooth dimensions in oligodontia were compared with those of a control group. Both early and late developing teeth were severely affected, and almost all teeth had significant reductions, compared to the control group, in mesiodistal and labiolingual dimensions. Left-right asymmetry of tooth dimensions was also found, but for the mesiodistal dimensions these were not significantly different from the control group. The occurrence of reductions in tooth size and left-right asymmetries suggests that oligodontia is not just an isolated phenomenon. The left-right asymmetry indicates a developmental instability in these individuals. More research is needed, to reveal the aetiology and pathogenesis of oligodontia.

Adolescent↗
PubMed1994

Symptomatology of patients with oligodontia.

The aims of the present study were: (i) to identify the association of patterns of congenitally missing teeth with combinations of ectodermal symptoms occurring in patients with oligodontia; and (ii) to propose a diagnostic scheme for the general practitioner. For this study 167 patients with oligodontia, both isolated and as part of a syndrome, and 135 healthy controls were interviewed and documented. Chi-square tests, logistic regression and correspondence analysis were used to evaluate and test differences between the groups and associations between the congenitally missing teeth and ectodermal symptoms. No significant differences were found between the control group and the patients with isolated oligodontia with exception of the skin. It could be concluded from the present study that there were no clear associations between congenitally missing teeth, either individually or patterns, and the ectodermal symptoms or combinations of ectodermal symptoms. However, it could be concluded that if the most stable teeth are missing, or if the number of missing teeth is large the patient should be examined carefully for symptoms of ectodermal dysplasia. Using logistic regression a patient could be classified as having isolated oligodontia or oligodontia as part of a syndrome with a specificity and sensitivity of 88.2%.

Abnormalities, Multiple↗
PubMed1994

DOOR syndrome: additional case and literature review.

We report on a patient with sensorineural deafness, onycho- and osteodystrophy and mental retardation (DOOR syndrome) and review the literature. It appears that abnormal dermatoglyphics are a frequent feature of the DOOR syndrome, as all patients with DOOR syndrome in whom dermatoglyphic investigations were done, had multiple arches on their fingertips.

Bone Diseases↗
PubMed1993

Paternal duplication of chromosome 5q11.2-5q14 in a male born with craniostenosis, ear tags, kidney dysplasia and several other anomalies.

A de novo duplication of the proximal part of the long arms of chromosome 5 was found in a male born with craniostenosis, ear tags and kidney dysplasia. The nature of the chromosomal aberration was defined by fluorescence in situ hybridization and the origin of the duplication was traced by polymorphic DNA markers. A comparison is made with the published cases showing similar duplications in the long arm of chromosome 5.

Abnormalities, Multiple↗
PubMed1993

Familial elastosis perforans serpiginosa.

BACKGROUND: Elastosis perforans serpiginosa (EPS) is an uncommon skin disease characterized by transepidermal elimination of abnormal elastic fibers. The disease is frequently associated with congenital connective tissue disorders or Down's syndrome. The pathogenesis of EPS is still unclear. There are a few reports in the literature about a familial occurrence of EPS in which different modes of inheritance are suggested. To support the hypothesis of a congenital origin of the disease, we have studied another family with EPS. OBSERVATIONS: In this study, we describe a family in which two sisters and a brother were affected by EPS. The father and three paternal uncles were most probably affected by the same disease. There were no signs of other congenital connective tissue disease in the family members. CONCLUSION: An autosomal dominant mode of inheritance with variable expression of EPS is suggested.

Adult↗
PubMed1992

Prenatal diagnosis of Niemann-Pick disease type C.

Niemann-Pick disease type C (NPC) was demonstrated in two successive pregnancies by strongly reduced activity of sphingomyelinase in amniotic fluid cells. By contrast, chorionic villi from the first pregnancy had shown normal sphingomyelinase activity. The prenatal diagnosis of NPC in the two fetuses was confirmed, after termination of the pregnancies, by (phospho)lipid analyses of the fetal livers, by the assay of sphingomyelinase in the fetal fibroblasts and by the demonstration of a defective esterification of exogenous cholesterol and of cholesterol accumulation by filipin staining. Retrospective analysis of cultured amniocytes for cholesterol esterification and filipin staining confirmed the feasibility of these methods for prenatal diagnosis. In a recent pregnancy in the same mother the three available methods were applied to amniotic fluid cells and an unaffected child was correctly predicted. Lipid analysis of liver tissue from the patient with NPC and the two fetuses showed a 3-5 times increased level of cholesterol, a 2-3 times increased level of sphingomyelin and a remarkable increase of bis (monoacylglyceryl) phosphate.

Amniotic Fluid↗
PubMed1992

[Support following pregnancy termination for genetic indications: experiences of involved women and their partners].

By means of semistructured interviews with 40 women and their partners data were collected concerning on the one hand the care and support and on the other the grieving after termination of pregnancy performed because the child appeared to be genetically affected. Crucial in the grieving process is having to choose personally for or against termination of the pregnancy. This grieving process can be complicated by factors such as uncertainty concerning either the evidence of the disease or its prognosis, high recurrence risk, negative self-esteem, feelings of failure and pre-existent relational or personal problems. Clear and complete counselling, combined with structural support during the hospital stay, proves to be the basis of adequate care. Follow-up interviews after the hospital stay play a supporting part, both for the hospital workers and for the couple involved.

Abortion, Induced↗
PubMed1992

Salla disease variant in a Dutch patient. Potential value of polymorphonuclear leucocytes for heterozygote detection.

A Dutch child with psychomotor retardation, impaired speech, ataxia, sialic acid storage and vacuolized skin fibroblasts and lymphocytes was diagnosed as having free sialic acid storage disease. Slight corneal opacities, pale optic disks at the fundus oculi and vertebral abnormalities, not earlier reported in Salla disease, were peculiar to this case. Free sialic acid was about tenfold increased in urine and cultured fibroblasts, without changes in the glycoconjugate-bound sialic acid pool. A subsequent pregnancy of the patient's mother was monitored by assay of sialic acid in chorionic villi and amniotic fluid. An unaffected foetus was predicted. Sialic acid was also assayed in peripheral blood total leucocytes, and in mononuclear and polymorphonuclear (PMN) leucocyte subpopulations. Each of these leucocyte fractions from the patient showed 10- to 30-fold increase in sialic acid content. The PMN subpopulation provided the most restricted range of control values and showed slightly increased values for the patient's parents. These results suggest that the assay of sialic acid in PMN might be useful for the identification of heterozygotes in sialic acid storage disease. Studies on a larger number of obligate heterozygotes are needed to confirm this observation.

Ataxia↗