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Biomedical subjects

K Boven

Publications and source records attributed to K Boven.

12 recordsLinked to original sources
PubMed2001

[Immune deficiencies: diagnosis, management, some perspectives].

Severe primary immunodeficiencies (PID) are rare; their global incidence is comparable to that of childhood leukemia; they include more than 100 different entities. Clinical manifestations are: unusually severe or frequent infections or infections that do not respond to adequate treatment; an increased risk of certain malignancies; sometimes auto-immune manifestations. Delayed diagnosis and management of PID can lead to severe and irreversible complications or to death. PID can become manifest only in the adult; in common variable immune deficiency, the median age at diagnosis is between the 2nd and the 3rd decade of life. PID are often transmitted genetically; recent progresses in molecular biology have allowed more precise and earlier, including antenatal, diagnosis. Molecular treatment of 3 infants with a severe immunodeficiency has recently been achieved in April 2000. Those progresses were mostly based on the study of immunodeficiency databases. We present here the work of a Belgian group specialized in PID; meetings have started in June 1997. This group establishes guidelines for the diagnosis and treatment of PID, adapted to the local situation. The elaboration of a national register of PID is also underway; this has to provide all guaranties of anonymity to patients and families. Such a register already exists at the European level; it has provided the basis for new diagnostic and therapeutic possibilities. The inclusion of Belgian data in this register should allow essential progresses essential for our patients.

Adolescent↗
PubMed2000

Progressive pseudorheumatoid dysplasia.

A rare case of progressive pseudorheumatoid dysplasia (PPD) in a 9-year-old girl is presented. Clinically, chronic painless swollen joints, accompanied by progressive motion restriction and progressive walking difficulties, were found. Radiologically, there was enlargement of the epimetaphyseal portions of the large joints, metacarpal heads, and phalanges, and generalized platyspondyly with irregular delineation of the endplates of the vertebral bodies. The radioclinical features at the peripheral joints were originally misdiagnosed as juvenile rheumatoid arthritis (JRA), and the structural spinal abnormalities were neglected and interpreted as Scheuermann's disease. However, the absence of active inflammatory parameters argues against JRA, whereas the low age of onset of the irregularities at the vertebral endplates is an argument against the diagnosis of Scheuermann's disease. The combination of the dysplastic abnormalities of the spine, with platyspondyly and Scheuermann-like lesions at an unusually low age of onset, and radiological features mimicking JRA of the peripheral joints, is the clue to the diagnosis of this rare autosomal-recessive disease. This case is the first to document the MRI features of PPD of the spine.

Arthritis, Juvenile↗
PubMed1997

A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family.

A candidate gene for Branchio-Oto-Renal (BOR) syndrome was identified at chromosome 8q13.3 by positional cloning and shown to underlie the disease. This gene is a human homologue of the Drosophila eyes absent gene (eya), and was therefore called EYA1. A highly conserved 271-amino acid C-terminal region was also found in the products of two other human genes (EYA2 and EYA3), demonstrating the existence of a novel gene family. The expression pattern of the murine EYA1 orthologue, Eya1, suggests a role in the development of all components of the inner ear, from the emergence of the otic placode. In the developing kidney, the expression pattern is indicative of a role for Eya1 in the metanephric cells surrounding the 'just-divided' ureteric branches.

Adult↗
PubMed1996

Anti-glomerular basement membrane glomerulopathy in a young child.

We report the youngest patient with anti-glomerular basement membrane disease described in the literature to date. Age-dependent expression of the target antigen in this auto-immune disease explains the low incidence in young children. Despite adequate immunosuppression, renal function did not recover in our patient.

Basement Membrane↗
PubMed1996

Tubulo-interstitial nephritis-uveitis (TINU)-syndrome with posterior uveitis.

A case of TINU-syndrome with complications in the posterior segment is reported. A 15-year old boy presented, eight months after an acute tubulo-interstitial nephritis, a bilateral anterior uveitis, followed by an unilateral posterior uveitis with papillitis. The treatment with oral and topical corticosteroids was successful.

Acute Disease↗
PubMed1992

Atypical Kawasaki disease: an often missed diagnosis.

We describe four patients with vasculitis of the coronary and other medium sized arteries. Three of them died as a consequence of cardiac failure and the fourth had a ruptured aneurysm of the left common iliac artery. Coronary vasculitis is pathognomonic for Kawasaki disease (KD), but our patients had few other signs of this disorder, suggesting so called atypical KD. Because the described patients lacked most of the clinical criteria, the diagnosis was delayed. We focus on other clinical features in these patients and stress the importance of early recognition and treatment.

Child, Preschool↗
PubMed1991

[Systemic juvenile chronic arthritis].

Juvenile chronic arthritis, systemic onset, is a form of juvenile chronic arthritis with severe systemic and constitutional involvement. We discuss the clinical findings, therapy and outcome of a series of forty patients we have seen in our hospital from 1979-1991.

Adolescent↗
PubMed1987

Abdominal colic due to ureteric diverticulum with stone formation.

In a 15-year-old boy right lower abdominal colicky pain was caused by intermittent obstruction of the ureter by stones which had accumulated in a ureteric diverticulum. As was shown by repeated X-rays, each of these stones had moved to the ureter and back to the diverticulum. Ureteric diverticulum mostly remains asymptomatic in children: stone formation and obstruction of the ureter by the stones is one of the instances which may cause symptoms.

Adolescent↗
PubMedDate not supplied

The Belgian-Flemish version of the Childhood Health Assessment Questionnaire (CHAQ) and the Child Health Questionnaire (CHQ).

We report herein the results of the cross-cultural adaptation and validation into the Belgian-Flemish language of the parent's version of two health related quality of life instruments. The Childhood Health Assessment Questionnaire (CHAQ) is a disease specific health instrument that measures functional ability in daily living activities in children with juvenile idiopathic arthritis (JIA). The Child Health Questionnaire (CHQ) is a generic health instrument designed to capture the physical and psychosocial well-being of children independently from the underlying disease. The Belgian-Flemish CHAQ was fully validated with 3 forward and 3 backward translations, while the Belgian-Flemish CHQ was equal to the Dutch version and revalidated in this study. The French version of both CHAQ and CHQ was exactly the same as the one used in France. A total of 199 subjects were enrolled: 53 patients with JIA (11% systemic onset, 40% polyarticular onset, 13% extended oligoarticular subtype, and 36% persistent oligoarticular subtype) and 146 healthy children. The CHAQ clinically discriminated between healthy subjects and JIA patients, with the polyarticular onset, and extended oligoarticular subtypes having a higher degree of disability, pain, and a lower overall well-being when compared to their healthy peers. Also the CHQ clinically discriminated between healthy subjects and JIA patients, with the polyarticular onset and extended oligoarticular subtypes having a lower physical and psychosocial well-being when compared to their healthy peers. In conclusion the Belgian-Flemish version of the CHAQ-CHQ is a reliable, and valid tool for the functional, physical and psychosocial assessment of children with JIA.

Adolescent↗
PubMedDate not supplied

Bronchogenic cysts in children.

Three children with symptomatic bronchogenic cysts are presented. Because of the variability in clinical presentation and the shortcomings of diagnostic procedures, bronchogenic cysts present a diagnostical problem. In view of the risk of serious complications an aggressive attitude towards all congenital cystic lung lesions is advised, even when they are asymptomatic. Surgical excision assures an excellent outcome in most cases, and is therefore the treatment of choice.

Bronchogenic Cyst↗
PubMedDate not supplied

Cerebral complications of murine monoclonal CD3 antibody (OKT3): CT and MR findings.

Treatment of acute renal allograft rejection with mouse monoclonal antibody (OKT3) is associated with systemic and neurologic side effects. We describe cerebral abnormalities in a 13-year-old boy with steroid-resistant renal allograft rejection. After treatment with OKT3, an acute neurologic syndrome developed, including seizures, lethargy, and decreased mental function. CT and MR imaging revealed confluent cerebral lesions at the corticomedullary junction. Contrast-enhanced MR images showed patchy enhancement, indicating blood-brain barrier dysfunction. The diagnosis of OKT3-induced encephalopathy with cerebral edema and capillary leak syndrome was made. Although CT and MR findings are nonspecific, neuroradiologists should be aware of this condition in transplant patients treated with OKT3.

Adolescent↗