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Biomedical subjects

A N Bosschaart

Publications and source records attributed to A N Bosschaart.

10 recordsLinked to original sources
PubMed2005

[Child abuse--the approach in the hospital].

It is estimated that at least 50,000 children are victims of child abuse each year in The Netherlands. Approximately 40 of these children die. Doctors, in cooperation with other disciplines, have a role in signalling child abuse in hospitals. Education must improve and enhance the knowledge and skills in this field. Hospital directors should facilitate education to achieve and maintain this knowledge and enable it to be put into practice. Better signalling procedures will result in quicker and more adequate treatment of these children. The number of fatal cases will then decrease as well.

Child↗
PubMed2000

Prenatal diagnosis in adenylosuccinate lyase deficiency.

Adenylosuccinate lyase deficiency, an autosomal recessive inborn error of purine synthesis, provokes accumulation in body fluids of succinylaminoimidazolecarboxamide riboside and succinyladenosine, the dephosphorylated derivatives of the two substrates of the enzyme. Most patients display severe psychomotor retardation, often accompanied by epilepsy and/or autistic features, although some are only mildly retarded. About 20 mutations are known. Prenatal diagnosis was performed twice on chorion villi of the mother of a previously diagnosed patient with a C5T mutation (exon 1) on the maternal allele, and a C1185A mutation (exon 11) on the paternal allele. Both suppress a Fnu4HI restriction site. In a first fetus, incubation of PCR products generated from genomic DNA of exon 1 with Fnu4HI yielded a 113 bp fragment from a control and the father's gene, and both a 113 bp and 170 bp fragment from the mother, affected sibling and fetus. Incubation of PCR products of exons 11-12 with Fnu4HI yielded a 550 bp fragment from a control and the mother's gene, and a 550 bp and 600 bp fragment from the father, affected sibling and fetus. Assay of adenylosuccinate lyase on the aborted fetal liver confirmed the enzyme deficiency. A second fetus displayed only the maternal mutation.

Abortion, Induced↗
PubMed1999

[Syndromes 15. Robin sequence].

Robin sequence (RS) is a congenital anomaly that includes micrognathia, U-shaped cleft palate, and upper airway obstruction. More than 80% of children with RS have other malformations as a result of associated congenital anomalies. This report briefly reviews some multidisciplinary aspects, including etiopathology, diagnosis and treatment.

Airway Obstruction↗
PubMed1998

Adenylosuccinase deficiency with neonatal onset severe epileptic seizures and sudden death.

We report a male infant with adenylosuccinase deficiency who developed epileptic seizures on the second day of life. Growth was normal and seizures were well controlled with anti-epileptic drugs. Despite axial hypotonia associated with peripheral hypertonicity he presented some development until seven months of age, when he developed high fever and died within a few hours. Although clinical heterogeneity in this disorder of purine synthesis and interconversion is well-known, in 14 out of 17 cases who experienced epilepsy seizures started after the first year of life. The early presentation in our index patient followed by his sudden death at the age of 7 months has not been described before. A search for disorders of purine metabolism should be included in the screening programme for every child with severe neonatal convulsions.

Adenosine↗
PubMed1997

[Calcitonin therapy in large or recurrent central giant cell granulomas of the lower jaw].

In three patients, boys aged 4 and 3 years and a woman aged 18 years, central giant cell granuloma of the mandible was diagnosed. As an alternative to mutilating surgery all three patients were treated with calcitonin, the second one when he was 16 years old and after the tumour had recurred 5 times following extirpation. After an average therapy of 14 months, no recurrences were encountered. Mean follow-up was 8 months. In local biopsies mature bone tissue was seen during the first 3 months of therapy, slight changes of the levels of procollagen peptide type 1, parathormone and hydroxyproline in 24-hour urine were noticed, all within the normal limits. During and after termination of therapy serum calcium, phosphate and parathormone stayed within the normal range. Side effects consisted of flushes, nausea and vomiting. Calcitonin is still an experimental therapy for central giant cell granuloma, but may be a good alternative to mutilating surgery in case of large or multiple recurring tumours.

Adolescent↗
PubMed1996

Cerebro-costo-mandibular syndrome.

We describe two boys with the cerebro-costo-mandibular syndrome (CCMS). Both patients presented with Pierre Robin anomaly and respiratory insufficiency and died 12 hours and 10 months after birth. The first boy had muscular hypotonia, severe micrognathia, glossoptosis, short palate, preauricular tag, paraumbilical fibroma, and a small and narrow thorax. His chest roentgenographs showed marked hypoplasia of the first to tenth rib, multiple posterior rib-gaps in the only four ossified ribs. Tracheomalacia and stenosis of the left ureter was observed during autopsy. No structural cerebral anomalies were observed. Respiratory distress necessitated a tracheostomy in the second boy. He had severe micrognathia with glossoptosis and a cleft soft palate were noted. His chest roentgenograph showed a bell-shaped, small thorax with multiple dorsal rib-gap defects. CCMS is a rare disorder often associated with Pierre Robin anomaly. Chest roentgenographs show the typical posterior rib-gap defects, which are quite variable. CCMS usually occurs as an isolated event in a family. Of 41 reported families four reports describe horizontal and two describe vertical transmission of CCMS. This might imply genetic heterogeneity with autosomal recessive and autosomal dominant inheritance. Inter- and intrafamilial expression is variable. Careful family studies are necessary before genetic counseling is given.

Flail Chest↗
PubMed1995

[Pyridoxine-dependent epilepsy in an infant].

A newborn girl with seizures was, after repeated conventional anticonvulsive treatment, cured by pyridoxine administration. Pyridoxine-dependent seizures are an uncommon disease with autosomal-recessive heredity and a variable clinical picture. The prognosis may be favourable when diagnosis is made early. Confusion with perinatal asphyxia, and initial good response to usual anticonvulsive treatment can lead to delay in diagnosis.

Anticonvulsants↗
PubMed1993

[A fatal influenza infection in a 10-year-old boy].

A previously healthy 10-year-old boy died a few days after onset of septicaemia with non-specific clinical symptoms. Influenza B virus was isolated post mortem from pulmonary tissue. The histopathological findings did not indicate a virus disease. Specimens were taken for virus culture from other people in contact with the patient and affected with influenza-like illnesses. One other strain of influenza B virus was isolated. The strains could not be distinguished either serologically or genetically from other influenza B isolates of the season 1992/'93.

Child↗
PubMed1986

Normalization of glucose homeostasis by a long-acting somatostatin analog SMS 201-995 in a newborn with nesidioblastosis.

A female child was admitted to the hospital few days after birth with severe hypoglycemia and convulsive episodes. Plasma insulin levels were elevated and oral and intravenous administration of glucose were unable to keep blood glucose above 2 mmol/l limit. Intravenous infusion of a long acting somatostatin analog, SMS 201-995, at a dosage gradually increasing from 2 to 50 micrograms/24 hr, was accompanied by a dramatic fall in circulating insulin levels. Normality of glucose homeostasis was restored and convulsive spells ceased. Fasting blood glucose levels stabilized between 3.4 and 4.7 mmol/l. No rebound phenomenon was observed during short term interruptions of the SMS 201-995 infusion. A subtotal pancreatectomy was performed during SMS treatment, and the diagnosis of nesidioblastosis was confirmed by immunocytologic and electron-microscopic studies. It is concluded that this new potent and long acting somatostatin derivative may be useful in the management of hyperinsulinism in the neonate.

Blood Glucose↗