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Biomedical subjects

Hugo S A Heymans

Publications and source records attributed to Hugo S A Heymans.

14 recordsLinked to original sources
PubMed2006

Comorbidity, hospitalization, and medication use and their influence on mental and motor development of young infants with Down syndrome.

OBJECTIVE: Young infants with Down syndrome have an increased occurrence of several well-known medical conditions such as congenital heart and gastrointestinal disease. The aim of this study was to establish consequences like hospitalization and medication use rates and to determine their possible influence on early neurodevelopment. PATIENTS AND METHODS: This study compared 2 years of thyroxine treatment with placebo in 196 neonates with Down syndrome who were included in a previously reported randomized clinical trial. Parents were interviewed about comorbidity, hospitalization, and medication use at random assignment and regularly thereafter. Data were cross-checked with discharge letters when available. The influence of comorbidity on neurodevelopment at 2 years old (Bayley Scales of Infant Development II) was determined by stepwise multiple linear-regression analysis. RESULTS: Before trial entry, 163 infants with Down syndrome had been admitted to hospital for an average of 14.01 days, whereas during the trial, 95 of 181 infants who completed the trial were hospitalized for an average 19.75 days. Main hospitalization reasons during the trial were lung/airway and congenital heart and gastrointestinal disease. The 48 infants operated on for heart or gastrointestinal disease accounted for 1401 of the total number of 1876 hospital admission days during the trial and for 33 of 62 admissions for lung/airway infection. During their second year of life, approximately 60% of the infants were prescribed drugs, mostly antibiotics and pulmonary. Regression analysis showed infantile spasms, "other" central nervous system disease, and gastrointestinal disease necessitating surgery to be associated with greater developmental age delays at 24 months old (mental: 6.87, 3.52, and 1.69 months; and motor: 3.59, 2.54, and 1.68 months, respectively). CONCLUSIONS: Hospital admission and medication use rates in young infants with Down syndrome are still very high, mainly because of congenital heart and gastrointestinal disease and acquired respiratory disease. Central nervous system disease and gastrointestinal disease necessitating surgery were independently associated with a worse developmental outcome.

Child Development↗
PubMed2005

The effect of thyroxine treatment started in the neonatal period on development and growth of two-year-old Down syndrome children: a randomized clinical trial.

CONTEXT: Young Down syndrome children appear to have a mild form of congenital hypothyroidism that is rarely detected by neonatal screening and usually left untreated. OBJECTIVE: To investigate the effects of thyroxine treatment on development and growth of young Down syndrome children. DESIGN, SETTING, AND PARTICIPANTS: Single-center, randomized, double-blind, 24-month trial (enrollment June 1999 to August 2001) with nationwide recruitment, comparing thyroxine administration with placebo in 196 Down syndrome neonates. INTERVENTION: Neonates were randomly assigned to treatment for 2 yr with either thyroxine (n = 99; initial dose 8 microg/kg) or placebo (n = 97). Daily thyroxine doses were adjusted at regular intervals to maintain plasma TSH in its normal and free T(4) concentrations in its high-normal range. Placebo dose adjustments mirrored those of thyroxine. MAIN OUTCOME MEASURES: The primary outcome was mental and motor development at age 24 months, assessed with the Bayley Scales of Infant Development II. RESULTS: At age 24 months, the developmental testing results of 90 thyroxine-, and 91 placebo-treated children were available for analysis. The thyroxine-treated children had a 0.7-month smaller delay in motor developmental age (95% confidence interval, -1.4 to 0), corresponding to a difference of seven motor developmental index points. The mental developmental age delay was also 0.7 month smaller in the thyroxine group (95% confidence interval, -1.5 to 0.2), but lacked statistical significance. Thyroxine-treated children had greater gains in length (1.1 cm; 95% confidence interval, 0.2 to 2.0) and weight (378 g; 95% confidence interval 55 to 701). CONCLUSIONS: The data of our study provide evidence to support the hypothesis that thyroxine treatment may improve development and growth of young Down syndrome children. Thyroxine treatment should be considered in Down syndrome neonates to maximize their early development and growth.

Apgar Score↗
PubMed2005

Social consequences in adult life of end-stage renal disease in childhood.

OBJECTIVE: To describe employment achievement and social independence of adults with childhood end-stage renal disease (ESRD) and to explore determining factors. STUDY DESIGN: Employment, occupational level, living arrangements, social engagements, and subjective health perception were cross-sectionally established between 1998 and 2000 in 144 of all living 187 adult Dutch patients with ESRD with an onset at age 0 to 15 years between 1972 and 1992. Potential clinical determinants were established by means of a review of all medical charts. RESULTS: Compared with age-matched Dutch citizens, patients were more often involuntarily unemployed (19.4% vs 11.1%), had a lower occupational level, more often still lived with their parents, and more often had no partner. A low occupational level was associated with a dialysis duration >8 years (OR, 9.6; 95% CI, 1.9-47.6); living at the parental home was associated with the male sex (OR, 3.4; 95% CI, 1.5-7.8) and with a dialysis duration >8 years (OR, 3.7; 95% CI, 1.3-10.2). CONCLUSION: Prolonged dialysis during childhood may decrease the ability to gain high-skilled professions and social independence. Unemployment is twice as high in adult patients with childhood ESRD than in healthy persons, but more than twice as low as compared with young ESRD patients with an adult onset of the disease, according to previous reports.

Adolescent↗
PubMed2004

Long-term follow-up of renal transplantation in children: a Dutch cohort study.

BACKGROUND: Few data exist on long-term morbidity, overall survival, and graft survival of pediatric renal transplantation. METHODS: The authors performed a long-term cohort study in all Dutch patients, born before 1979, with onset of end-stage renal disease (ESRD) between 1972 and 1992 at age 0 to 15 years. Data on graft survival and determinants of outcome were obtained by reviewing all medical charts. The health status was assessed by cross-sectional examination of surviving patients. RESULTS: Three hundred ninety-seven transplantations were performed in 231 of all 249 patients, of whom 25 died with a functioning graft. Cardiovascular disease was the most prominent cause of death. Graft survival estimates for all transplantations were 59.2%, 45.3%, 35.4%, and 30.3% at 5, 10, 15, and 20 years, respectively. In comparison with azathioprine, cyclosporine as the immunosuppressant was associated with increased graft survival in retransplantations but not in first transplantations. Cross-sectional examination was performed on 110 patients. In 44 patients, the most recent graft survival exceeded 15 years. Co-morbidity was found in 40% of all patients; motor, hearing, or visual disabilities were found in 19%. Bone disease, headaches, itching, and tremors were the most reported disabling problems. Cyclosporine use was associated with hypertension and a history of epilepsy. Compared with all age-matched Dutch inhabitants, the educational attainment was low, and unemployment and parental dependency were high. CONCLUSIONS: The authors' results emphasize the need for reducing cardiovascular disease and metabolic bone disease in pediatric ESRD, a policy toward less toxic antirejection therapy, a more strict treatment of hypertension, and more attention for schooling and social development toward independence.

Adolescent↗
PubMed2003

Severe bone disease and low bone mineral density after juvenile renal failure.

BACKGROUND: Little is known about the late effects of juvenile end-stage renal disease (ESRD) on bone integrity. To establish clinical manifestations of metabolic bone disease and bone mineral density (BMD) in young adult patients with juvenile ESRD, we performed a long-term outcome study. METHODS: A cohort was formed of all Dutch patients with onset of ESRD between 1972 and 1992 at age 0 to 14 years, born before 1979. Data were collected by review of medical charts, current history, physical examination, and performing dual energy x-ray absorptiometry (DEXA) of the lumbar spine and the femoral neck. RESULTS: Clinical information was retrieved in 247 out of 249 patients. Of all of these patients, 61.4% had severe growth retardation (<-2 SD), 36.8% had clinical symptoms of bone disease, and 17.8% were disabled by bone disease. Growth retardation and clinical bone disease were associated with a long duration of dialysis. DEXA was performed in 140 out of 187 living patients. Mean BMD +/- SD corrected for gender and age (Z score) of the lumbar spine was -2.12 +/- 1.4 and of the femoral neck was -1.77 +/- 1.4. A low lean body mass was associated with a low lumbar spine and a low femoral neck BMD; male gender, physical inactivity and aseptic bone necrosis were associated with a low lumbar spine BMD. CONCLUSION: Bone disease is a major clinical problem in young adults with pediatric ESRD. Further follow-up is needed to establish the impact of the low bone mineral densities found in these patients.

Absorptiometry, Photon↗
PubMed2003

Cardiac disease in young adult patients with end-stage renal disease since childhood: a Dutch cohort study.

BACKGROUND: Cardiovascular disease is the most important cause of death in patients with pediatric end-stage renal disease (ESRD). Yet, few data exist on cardiac function in these patients. We assessed the extent of cardiac abnormality and analyzed its association with potential determinants in young adult patients with pediatric ESRD in a long-term follow-up study. METHODS: All Dutch living adult patients with ESRD onset at age of 0 to 14 years between 1972 and 1992 were invited for echocardiography and blood pressure assessment. Special attention was paid to evidence of left ventricular hypertrophy (LVH), diastolic dysfunction, and aortic valve calcification. We collected data on determinants by review of all medical charts. RESULTS: Of all the 187 living patients, 140 participated in the study. Of those, 110 patients had received a transplant and 30 patients were on dialysis. Mean age was 29.2 (20.7 to 41.8) years. Left ventricular mass index (LVMI) exceeded 150 g/m2 in 47% of all male patients and 120 g/m2 in 39% of all female patients, both consistent with LVH. Diastolic dysfunction, defined as an early over atrial transmitral blood flow velocity (E/A ratio) <1, was found in 18 (13%) patients; 27 (19%) had aortic valve calcification. Multiple regression analysis revealed the following: a high LVMI was associated with a current high blood pressure (beta=0.46, P < 0.001) and male gender (beta=0.21, P=0.009), a low E/A ratio with aging (beta=-0.28, P < 0.001) and a glomerular filtration rate (GFR) <25 mL/min/1.73 m2 (beta=-0.29, P < 0.001), and aortic valve calcification with prolonged peritoneal dialysis (beta=0.36, P < 0.001). CONCLUSION: Young adult patients with pediatric ESRD are at risk for LVH caused by hypertension and for aortic valve calcification. Diastolic function decreases with age and is enhanced by a current low GFR. Prolonged peritoneal dialysis may enhance aortic valve calcification.

Adult↗
PubMed2003

Quality of life in adults with end-stage renal disease since childhood is only partially impaired.

BACKGROUND: Little is known about the quality of life of adults with end-stage renal disease (ESRD) since childhood. In a long-term follow-up study, we assessed quality of life in these patients and compared their outcomes with those in the general population and in dialysis patients with adult-onset of ESRD. METHODS: All Dutch adult patients with onset of ESRD at age 0-14 years between 1972 and 1992 were asked to complete the RAND-36 questionnaire. We obtained clinical information by reviewing all available medical charts, and by current history. Patient scores were compared with those of age-matched healthy controls and with those of patients with adult onset of dialysis, of whom data were derived from a national study on the adequacy of dialysis (NECOSAD-2). RESULTS: We obtained a complete RAND-36 score in 131 of 187 surviving patients. Clinical characteristics of participants and non-participants were similar. Compared with the general population, we found a higher prevalence of impaired quality of life in dialysis patients in the following domains: physical functioning, role limitations due to physical health, social functioning (SF), general health perception (GH) and physical component summary. In other domains, impaired quality of life was equally or less prevalent (mental component summary). In transplanted patients, only impaired GH and SF were more prevalent. In dialysis patients with adult ESRD onset, impaired quality of life was more prevalent than in the general population in all domains, except in emotional role limitations. CONCLUSIONS: Dialysis patients with paediatric ESRD have an impaired physical quality of life, but in contrast to dialysis patients with adult ESRD onset, they have a normal mental quality of life.

Activities of Daily Living↗
PubMed2003

Autoantibodies and histogenesis of celiac disease.

OBJECTIVE: Autoantibodies are used as markers for celiac disease (CD) identifying patients with mucosal lesions. The purpose of this study was to evaluate the sensitivity and role of the autoantibodies such as IgA antiendomysium (EMA), IgA antigliadin (AGA) and the IgA antitissue transglutaminase (tTGA) in histogenesis of celiac disease. METHODS: Seventy-nine cases including 30 untreated celiacs, 5 celiacs on gluten-free diet (GFD), 41 first degree relatives and 3 non-relatives suspected for CD were investigated. Three untreated celiacs with IgA deficiency were excluded from this study group. IgA antibodies to tTGA were determined by ELISA, as described before. Twelve of 41 relatives and 2 cases of non relatives suspected with positive serology underwent a small intestinal biopsy. Results were correlated with the degrees of abnormality of the intestinal mucosa in patients with CD. Intestinal biopsies obtained from study population were evaluated for histological quantification. RESULTS: Celiacs and suspected cases with positive EMA/AGA and or tTGA showed shorter villi (p < 0.007) and/or a higher number of intraepithelial lymphocytes (IEL) (p < 0.035). The sensitivity of serology (EMA, AGA, tTGA) in patients with Marsh IIIc was 100%. However, in patients with Marsh IIIa the sensitivity for EMA, AGA, and tTGA was 40%, 50% and 20% respectively. CONCLUSIONS: The appearance of antibodies is related to the degree of mucosal infiltration by IELs. Although tTGA, like EMA provide a highly sensitive parameter for the detection of celiacs with severe mucosal damage, it appears to be less sensitive (even less than AGA) in celiac patients with milder histopathological abnormalities. However, it should be recognized that the substantial part of the celiac population present with these milder forms of mucosal abnormalities. Using tTGA as a single test in screening may result in missing up to 60-70% of celiacs with mild mucosal abnormalities. Combination with other screening tests (at least with AGA) is essential and strongly recommended

Adolescent↗
PubMed2002

Mortality and causes of death of end-stage renal disease in children: a Dutch cohort study.

BACKGROUND: To establish mortality rates, causes of death, and determinants of mortality in children with end-stage renal disease (ESRD), we performed a national long-term follow up study. METHODS: Mortality rate was determined in all Dutch patients with onset of ESRD at ages 0 to 14 years in the period between 1972 and 1992. Causes of death and mortality determinants were investigated in all patients of this cohort who were born before 1979. Data were derived from the Dutch Registry for patients on renal replacement therapy (RRT), medical charts and National Health Database. RESULTS: Of all 381 patients 85 had died. The overall mortality rate (MR) was 1.57/100 patient-years, and the standardized mortality rate (SMR) was 31.0. The MR for patients 0 to 5 and 6 to 10 years old at onset of ESRD decreased from, respectively, 7.0 (range 0-14.9) to 3.9 (1.2-6.7) and 4.3 (1.1-7.5) to 1.6 (0.3-2.8) between the periods 1972-1981 and 1982-1992. The mortality hazard ratio of relatively long standing dialysis and of long standing hypertension were, respectively, 7.2 (4.4-11.8) and 3.1 (2.1-4.6), of cyclosporine-introduction in transplanted patients 0.3 (0.1-0.4). Overall cerebrovascular accidents (24%) and infections (21%) were the most common causes of death; after 10 years of RRT cardiac death (7/21) was most prevalent. Cardiovascular death was most prominent in dialysis as well as transplanted patients. CONCLUSION: Survival in children with ESRD has increased over the last 20 years, but the SMR remains high. Early transplantation and a more vigorous approach toward hypertension and infection may be mandatory in order to further reduce mortality.

Adolescent↗
PubMed2002

The pharmacokinetics of nelfinavir in HIV-1-infected children.

The authors investigated the steady-state plasma pharmacokinetics of nelfinavir in HIV-1-infected children in a dosage of 30 mg/kg every 8 hours and 45 mg/kg every 12 hours in 12 HIV-1-infected children (aged 2.1 to 10.8 years) participating in an open-label study of nelfinavir in combination with stavudine and lamivudine. Median values of the primary pharmacokinetic parameters of nelfinavir 30 mg/kg every-8-hours (n = 8) and 45 mg/kg every 12 hours (n = 10) were, respectively, for the area under the plasma concentration-time curve over 24 hours, 90.5 and 71.9 h x microg/mL, for the trough concentration 1.9 and 1.0 microg/mL, and for the maximal concentration 6.3 and 5.2 microg/mL. Overall, a 7-fold interpatient variability was observed for the exposure to nelfinavir. Nelfinavir 30 mg/kg every-8-hours or 45 mg/kg every 12 hours in HIV-1-infected children generally resulted in plasma concentrations higher than those obtained in adults. However, due to a large interpatient variability in the exposure, individual dosage adjustments based on plasma concentrations may be necessary for both dosing regimens to ensure optimal treatment.

Administration, Oral↗
PubMed2002

Are parents able to rate the symptoms and quality of life of their offspring with IBD?

The aim of this study was to investigate the degree of agreement between parents and their offspring with inflammatory bowel disease for the presence of symptoms and the assessment of health-related quality of life (HRQOL). Factors influencing parent-child agreement were studied. Eighty-three Children and 81 parents separately filled out a five-item symptom card and a validated generic HRQOL instrument, which assesses seven domains of HRQOL, using the child and parent form. The parent also filled out the GHQ-30, an instrument assessing nonpsychotic psychiatric disorder in the parent, and an item on marital status. Intraclass correlation coefficients and paired student t-test were used to assess the level of agreement between raters. On one domain, parents reported their children as having a worse QOL than did the children themselves (social functioning). The parents were adequate raters of objective components of their child's HRQOL (overall correlation coefficient: 0.88). However, on more subjective components, the coefficient dropped to 0.62. In 82% of the cases did parents correctly classify their child into the disease activity category the child classified him- or herself. In conclusion, agreement between parents and offspring is good for the child's symptoms, but for HRQOL assessment only when it concerns objective states.

Adolescent↗
PubMed2002

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients.

OBJECTIVES: To assess the mode of presentation, biochemical abnormalities, clinical course, and effects of therapy in patients of long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. BACKGROUND: LCHAD deficiency is a rare, autosomal recessive inborn error of fatty acid oxidation. Although case reports and small series of patients have been published, these may not give a true picture of the clinical and biochemical spectrum associated with this disorder. To improve the early recognition and management of this potentially lethal disorder, we have reviewed a large cohort of LCHAD-deficient patients. METHODS: A questionnaire was sent to the referring physicians of 61 unselected patients with LCHAD deficiency diagnosed in our center. The standardized questionnaire requested information about the clinical signs and symptoms at presentation, the clinical history, family history, pregnancy, biochemical parameters at presentation, treatment, and clinical outcome. RESULTS: Questionnaires on 50 patients (82%) were returned and included in this study. The mean age of clinical presentation was 5.8 months (range: 1 day-26 months). Seven (15%) of the patients presented in the neonatal period. Thirty-nine patients (78%) presented with hypoketotic hypoglycemia, the classical features of a fatty acid oxidation disorder. Eleven patients (22%) presented with chronic problems, consisting of failure to thrive, feeding difficulties, cholestatic liver disease, and/or hypotonia. In retrospect, most (82%) of the patients presenting with an acute metabolic derangement also suffered from a combination of chronic nonspecific symptoms before the metabolic crises. Mortality in this series was high (38%), all dying before or within 3 months after diagnosis. Morbidity in the surviving patients is also high, with recurrent metabolic crises and muscle problems despite therapy. CONCLUSIONS: LCHAD deficiency often presents with a combination of chronic nonspecific symptoms. Early diagnosis is difficult in the absence of the classical metabolic derangement. Survival can be improved by prompt diagnosis, but morbidity remains alarmingly high despite current therapeutic regimes.

3-Hydroxyacyl CoA Dehydrogenases↗