Healthcare costs and productivity costs of hand and wrist injuries by external cause: A population-based study in working-age adults in the period 2008-2012.

BACKGROUND: Hand and wrist injuries are very common at the Emergency Departments (ED), and among the most costly injury types in the working population. The purpose of this study was to explore the causes of non-trivial hand and wrist injuries (i.e., hand fractures, wrist fractures and complex soft-tissue injuries) in working-age adults in order to identify target areas for prevention. METHODS: Data were extracted from the Dutch Injury Surveillance System, from the National Hospital Discharge Registry and from a patient follow-up survey in working-age adults (aged 20-64 years) in the period 2008-2012. An incidence-based cost model was used to estimate healthcare costs, and an absenteeism model for estimating the productivity costs. Total costs were calculated by external cause, subdivided in their main categories (home, sports, work, traffic and violence) and their most important subclasses. RESULTS: Total costs of these injuries in The Netherlands were US $410 million per year, of which 75% (US $307 million) productivity costs. Males represented 66% (US $271 million) of the total costs. Within the male group, the group 35-49 years had the highest contribution to total costs (US $112 million), as well as the highest costs per case (US $10,675). Work-related injuries showed the highest costs per case (US $11,797), however, only 25% of the total costs were work-related. The top five causes in terms of total costs were: accidents at home (falls 23%, contact with an object 17%), traffic (cycling 9%) and work (industrial work 4%, and construction work 4%). CONCLUSION: Hand and wrist injuries are a major cause of healthcare and productivity costs in working-age adults. To reduce the costs to society, prevention initiatives should be targeted at major contributing causes, that are mainly related to activities at home (falls, contact with an object) and accidents at the road (cycling).

Increase in upper extremity fractures in young male soccer players in the Netherlands, 1998-2009.

Young male soccer players have been identified as a target group for injury prevention, but studies addressing trends and determinants of injuries within this group are scarce. The goal of this study was to analyze age-specific trends in hospital-treated upper extremity fractures (UEF) among boys playing soccer in the Netherlands and to explore associated soccer-related factors. Data were obtained from a national database for the period 1998-2009. Rates were expressed as the annual number of UEF per 1000 soccer players. Poisson's regression was used to explore the association of UEF with the number of artificial turf fields and the number of injuries by physical contact. UEF rates increased significantly by 19.4% in boys 5-10 years, 73.2% in boys 11-14 years, and 38.8% in boys 15-18 years old. The number of injuries by physical contact showed a significant univariate association with UEF in boys 15-18 years old. The number of artificial turf fields showed a significant univariate association with UEF in all age groups, and remained significant for boys aged 15-18 years in a multivariate model. This study showed an increase of UEF rates in boys playing soccer, and an independent association between artificial turf fields and UEF in the oldest boys.

Assessment of the oral health condition of nursing home residents by primary care nurses.

We interviewed 36 primary care nurses in three Dutch nursing homes regarding the functional oral health and dental treatment needs of 331 care-dependent residents (average age 77.8 years). The nurses assessed the residents' oral health condition as good (8.3 on a scale of 0 to 10). Edentulous residents wearing dentures were considered to have better functional oral health than dentate residents wearing partial dentures and edentulous residents not wearing dentures. According to the nurses, only 9% of the residents required dental treatment. This finding is in contrast with an intraoral study of the same population, in which dentists determined that 73% of the residents needed dental treatment.

Health-related quality of life after upper extremity injuries and predictors for suboptimal outcome.

PURPOSE: The purpose of this study was to examine the impact of upper extremity injuries (UEIs) on health-related quality of life (HRQoL) in adult patients compared with victims of other types of injuries and with the general population, in order to establish recovery patterns of different types of UEIs and determine predictors for suboptimal outcome in the long term. METHODS: Data were obtained from the Dutch Injury Surveillance System, from the National Hospital Discharge Registry, and from a patient follow-up survey. A total of 608 patients (aged ≥18 years) with an UEI were included. The main outcome measure was HRQoL measured at 2.5, 5, 9 and 24 months after UEI according to the EuroQol-5D (EQ-5D). The predictors for the suboptimal outcome were examined by multivariate linear regression analyses. RESULTS: For non-hospitalized UEI patients, a substantial loss in HRQoL was observed after 2.5 months which improved to the level of the general population norms by 24 months. For hospitalized UEI patients, HRQoL improved from 2.5 to 24 months but remained far below population norms. The more proximal UEI had a lower HRQoL and a slower recovery of HRQoL than distal injuries. At all time points, the proportion of UEI patients with limitations on the health domains self-care, usual activities and complaints of pain and/or discomfort was higher than in the group of all injuries. Female gender, higher age, low educational level, co-morbidity, shoulder or upper arm injury, multiple injuries and hospitalization are independent predictors for long-term loss in HRQoL. CONCLUSIONS: The impact of UEI exceeds the health consequences of the group with all injuries, for both non-hospitalized and hospitalized patients. The presence of UEI substantially reduces HRQoL in the short and long term, mainly due to limitations on the health domains self-care, usual activities and complaints of pain and/or discomfort. CLINICAL RELEVANCE: The impact of UEIs on HRQoL exceeds the health consequences of the group with all injuries. Proximal UEIs had a lower HRQoL and slower recovery than distal injuries. The predictors for the outcome on specific UEIs need to be further investigated in clinical studies, to understand how these differences affect patient-reported outcome measures. These data provide additional insight into treatment outcome and are needed to improve quality of care.

Genome-wide analysis of rare copy number variations reveals PARK2 as a candidate gene for attention-deficit/hyperactivity disorder.

Attention-deficit/hyperactivity disorder (ADHD) is a common, highly heritable neurodevelopmental disorder. Genetic loci have not yet been identified by genome-wide association studies. Rare copy number variations (CNVs), such as chromosomal deletions or duplications, have been implicated in ADHD and other neurodevelopmental disorders. To identify rare (frequency ≤1%) CNVs that increase the risk of ADHD, we performed a whole-genome CNV analysis based on 489 young ADHD patients and 1285 adult population-based controls and identified one significantly associated CNV region. In tests for a global burden of large (>500 kb) rare CNVs, we observed a nonsignificant (P=0.271) 1.126-fold enriched rate of subjects carrying at least one such CNV in the group of ADHD cases. Locus-specific tests of association were used to assess if there were more rare CNVs in cases compared with controls. Detected CNVs, which were significantly enriched in the ADHD group, were validated by quantitative (q)PCR. Findings were replicated in an independent sample of 386 young patients with ADHD and 781 young population-based healthy controls. We identified rare CNVs within the parkinson protein 2 gene (PARK2) with a significantly higher prevalence in ADHD patients than in controls (P=2.8 × 10(-4) after empirical correction for genome-wide testing). In total, the PARK2 locus (chr 6: 162 659 756-162 767 019) harboured three deletions and nine duplications in the ADHD patients and two deletions and two duplications in the controls. By qPCR analysis, we validated 11 of the 12 CNVs in ADHD patients (P=1.2 × 10(-3) after empirical correction for genome-wide testing). In the replication sample, CNVs at the PARK2 locus were found in four additional ADHD patients and one additional control (P=4.3 × 10(-2)). Our results suggest that copy number variants at the PARK2 locus contribute to the genetic susceptibility of ADHD. Mutations and CNVs in PARK2 are known to be associated with Parkinson disease.

Integrated versus incidental dental care in nursing homes.

PURPOSE/AIM: In most of the 334 Dutch nursing homes, incidental dental care is provided upon indication by the medical and nursing staff. However, more and more nursing homes offer integrated dental care, where a dentist works on a structural basis in facilities within the home. METHODS: To evaluate the costs and effects of integrated versus incidental care, we studied the oral status and treatment needs in two nursing homes in the same city with 175 and 120 residents an average age of 81.7 and 79.3 years, respectively. RESULTS: In the integrated care home, the dentist spent an average 2.2 hours/year per resident at a cost of €229 for the dentist's work and €143 for laboratory costs. In the incidental care home, these values were 0.1 hours/year per resident at a cost of €15 for the dentist's work and €20 for laboratory costs. CONCLUSIONS: With integrated care, 55.6% of the residents had no oral treatment need versus 13.1% for incidental care, more edentulous residents wore dentures, and residents had less soft tissue pathology.

Augmented mandibular bone structurally adapts to functional loading.

Long-term changes in trabecular bone structure during the 10 years following onlay grafting with simultaneous mandibular implant placement were studied. Extraoral radiographs of both mandibular sides in eight patients were taken regularly. Bone structure was analysed using a custom-written image analysis program. Parameters studied were trabecular area and perimeter and marrow cavity area and perimeter. After skeletonisation of the trabecular network, the number of end points and branching points, skeleton length, and branch angle were determined. The observed structural changes agree with the development of a more complex and more delicate or fine osseous structure. The bone shows more trabecular branching. All changes are most pronounced in the graft spongiosa, but are also found in the graft cortex and in the original mandible. The mean trabecular branch angle becomes more horizontal. The applied technique can be used to analyse long-term changes in the architecture of bone grafts. Changes found in the graft architecture correspond to changes expected after functional adaptation to loading.

Bipolar disorder risk alleles in children with ADHD.

Bipolar disorder (BD) and attention deficit/hyperactivity disorder (ADHD) may share common genetic risk factors as indicated by the high co-morbidity of BD and ADHD, their phenotypic overlap especially in pediatric populations, the high heritability of both disorders, and the co-occurrence in families. We therefore examined whether known polygenic BD risk alleles are associated with ADHD. We chose the eight best SNPs of the recent genome-wide association study (GWAS) of BD patients of German ancestry and the nine SNPs from international GWAS meeting a 'genome-wide significance' level of α = 5 × 10(-8). A GWAS was performed in 495 ADHD children and 1,300 population-based controls using HumanHap550v3 and Human660 W-Quadv1 BeadArrays. We found no significant association of childhood ADHD with single BD risk alleles surviving adjustment for multiple testing. Yet, risk alleles for BD and ADHD were directionally consistent at eight of nine loci with the strongest support for three SNPs in or near NCAN, BRE, and LMAN2L. The polygene analysis for the BP risk alleles at all 14 loci indicated a higher probability of being a BD risk allele carrier in the ADHD cases as compared to the controls. At a moderate power to detect association with ADHD, if true effects were close to estimates from GWAS for BD, our results suggest that the possible contribution of BD risk variants to childhood ADHD risk is considerably lower than for BD. Yet, our findings should encourage researchers to search for common genetic risk factors in BD and childhood ADHD in future studies.

Analyses of non-synonymous obesity risk alleles in SH2B1 (rs7498665) and APOB48R (rs180743) in obese children and adolescents undergoing a 1-year lifestyle intervention.

Association of obesity risk alleles of single nucleotide polymorphisms (SNPs) near or in the SH2B adaptor protein 1 gene (SH2B1) and increased body mass index (BMI) has been often described. A gene in close proximity, apolipoprotein B48 receptor gene (APOB48R), is tagged by the same SNP(s).We analyzed 454 overweight and obese children and adolescents (10.8±2.6 years, BMI-SDS 2.4±0.5; 55% girls) who completed a 1-year lifestyle intervention ('Obeldicks' program). Carriers of obesity risk alleles of non-synonymous SNPs in SH2B1 (rs7498665, Thr484Ala) or APOB48R (rs180743, Pro419Ala), as genotyped by TaqMan, were analysed for changes in anthropometrics (body-mass index (BMI), and standardized BMI (BMI-SDS)), blood pressure (systolic and diastolic) and plasma parameters (total cholesterol, LDL-cholesterol, HDL-cholesterol, triacylglycerides, glucose, insulin, and HOMA).We observed no evidence for an association of the obesity risk alleles to alterations in any of the analyzed phenotypes. Both mean BMI and BMI-SDS improved during the intervention independent of genotype. The mean systolic blood pressure was lowered and concentrations of HDL-cholesterol increased significantly.The obesity risk alleles of non-synonymous SNPs at SH2B1 and APOB48R have no strong effect on weight loss-related phenotypes in overweight children after a 1-year lifestyle intervention.

Epidemiology and health-care utilisation of wrist fractures in older adults in The Netherlands, 1997-2009.

INTRODUCTION: Wrist fractures are common in older adults and are expected to increase because of ageing populations worldwide. The introduction of plate and screw fixation has changed the management of this trauma in many patients. For policymaking it is essential to gain insight into trends in epidemiology and healthcare utilisation. The purpose of this study was to determine trends in incidence, hospitalisation and operative treatment of wrist fractures. METHODS: A population-based study of patients aged 50 years and older using the Dutch National Injury Surveillance System and the National Hospital Discharge Registry. Data on emergency department visits, hospitalisations and operative treatment for wrist fractures within the period 1997-2009 were analysed. RESULTS: In women, the age-standardised incidence rate of wrist fractures decreased from 497.2 per 100,000 persons (95% confidence interval, 472.3-522.1) in 1997 to 445.1 (422.8-467.4) in 2009 (P for trend < 0.001). In men, no significant trends were observed in the same time period. Hospitalisation rates increased from 30.1 (28.3-31.9) in 1997 to 78.9 (75.1-82.8) in 2009 in women (P < 0.001), and from 6.4 (6.0-6.8) to 18.4 (17.3-19.5) in men (P < 0.001). There was a strong increase in operative treatment of distal radius fractures, especially due to plate fixation techniques in all age groups. CONCLUSION: Incidence rates of wrist fractures decreased in women and remained stable in men, but hospitalisation rates strongly increased due to a steep rise in operative treatments. The use of plate and screw fixation techniques for distal radius fractures increased in all age groups.

Economic impact of hand and wrist injuries: health-care costs and productivity costs in a population-based study.

BACKGROUND: Injuries to the hand and wrist account for approximately 20% of patient visits to emergency departments and may impose a large economic burden. The purpose of this study was to estimate the total health-care costs and productivity costs of injuries to the hand and wrist and to compare them with other important injury groups in a nationwide study. METHODS: Data were retrieved from the Dutch Injury Surveillance System, from the National Hospital Discharge Registry, and from a patient follow-up survey conducted between 2007 and 2008. Injury incidence, health-care costs, and productivity costs (due to absenteeism) were calculated by age group, sex, and different subgroups of injuries. An incidence-based cost model was used to estimate the health-care costs of injuries. Follow-up data on return to work rates were incorporated into the absenteeism model for estimating the productivity costs. RESULTS: Hand and wrist injuries annually account for $740 million (in U.S. dollars) and rank first in the order of most expensive injury types, before knee and lower limb fractures ($562 million), hip fractures ($532 million), and skull-brain injury ($355 million). Productivity costs contributed more to the total costs of hand and wrist injuries (56%) than did direct health-care costs. Within the overall group of hand and wrist injuries, hand and finger fractures are the most expensive group ($278 million), largely due to high productivity costs in the age group of twenty to sixty-four years ($192 million). CONCLUSIONS: Hand and wrist injuries not only constitute a substantial part of all treated injuries but also represent a considerable economic burden, with both high health-care and productivity costs. Hand and wrist injuries should be a priority area for research in trauma care, and further research could help to reduce the cost of these injuries, both to the health-care system and to society.

Prognostic significance of chromosome 3 alterations determined by microsatellite analysis in uveal melanoma: a long-term follow-up study.

BACKGROUND: In uveal melanoma (UM), the most frequent primary intraocular tumour in adults, loss of one entire chromosome 3 (monosomy 3 (M3)) is observed in ~50% of tumours and is significantly associated with metastatic disease. The strong association of metastatic disease with M3 offers the opportunity for molecular prognostic testing of UM patients. METHODS: To re-evaluate M3 as prognostic marker in our clinical and laboratory setting and to determine the metastatic potential of rare tumours with partial M3, we performed a comprehensive study on 374 UM patients treated by enucleation in our clinic within 10 consecutive years, starting in 1998. Genotyping of all tumours was performed by microsatellite analysis. RESULTS: Median follow-up time was 5.2 years. The disease-specific mortality rates (death by UM metastases) for tumours with disomy 3 (D3) and M3 were 13.2% and 75.1%, respectively. The disease-specific survival was worse when M3 was observed together with chromosome 8 alterations (P=0.020). Death of UM metastases was also observed in 12 patients (9%) with D3 tumours. The metastasising D3 tumours showed a larger basal tumour diameter (P=0.007), and were more frequently of mixed or epitheloid cell type (P<0.0001) than D3 tumours that did not metastasise. Mortality rate of tumours showing partial M3 (8.3%) was as low as that for tumours with D3. CONCLUSION: This shows that large tumours with disomy 3 have an increased risk to develop metastases. On the basis of these results, our clinic offers routine prognostic testing of UM patients by chromosome 3 typing.

The fatty acid amide hydrolase (FAAH) gene variant rs324420 AA/AC is not associated with weight loss in a 1-year lifestyle intervention for obese children and adolescents.

Adult obese carriers of the A allele of SNP rs324420 in the fatty acid amide hydrolase (FAAH) gene lose more weight and improve associated phenotypes better than non-carriers during an intervention. We aimed to replicate this finding in obese children and adolescents undergoing a one year lifestyle intervention (Obeldicks program). A total of 453 overweight and obese children and adolescents (10.8±2.6 years, BMI-SDS 2.4±0.5; 55% girls) were genotyped for rs324420 (C/A) by restriction fragment length polymorphism (RFLP) analysis. Participants were prescribed a balanced diet, containing 55 En% carbohydrates, 30 En% fat, and 15 En% proteins. Moreover, they took part in an exercise therapy once a week. Blood was taken at baseline and after 1 year of intervention. Anthropometric (height, weight, BMI, and BMI-SDS) and plasma parameters (total cholesterol, LDL-cholesterol, HDL-cholesterol, triacylglycerides, glucose, insulin, and HOMA) as well as blood pressure were measured. Both mean BMI and BMI-SDS improved significantly. The mean systolic blood pressure was also lowered and concentrations of HDL-cholesterol increased significantly. However, none of the measured changes were associated with FAAH rs324420 AA/AC genotype. We did not detect evidence for an association of FAAH genotypes with weight reduction in overweight and obese children and adolescents. Hence, the previous finding in adults could not be confirmed. As the length (1 year as compared to 3 months) and mode of treatment (hypocaloric diet in adults vs. physical activity plus balanced meals) of the interventions varied, these parameters might have influenced the inconsistent results.

Trends in wrist fractures in children and adolescents, 1997-2009.

PURPOSE: Distal radius and carpal fractures in children and adolescents represent approximately 25% of all pediatric fractures. Incidence rates and causes of these fractures change over time owing to changes in activities and risk factors. The purpose of this study was to examine recent population-based trends in incidence and causes of wrist fractures in children and adolescents. METHODS: We obtained data from the Dutch Injury Surveillance System of emergency department visits of 15 geographically distributed hospitals, and from the National Hospital Discharge Registry. This included a representative sample of outpatients and inpatients, respectively. We calculated incidence rates of wrist fractures per 100,000 person-years for each year between 1997 and 2009. Using Poisson's regression, we analyzed trends for children and adolescents 5 to 9, 10 to 14, and 15 to 19 years of age separately for boys and girls. RESULTS: During the study period, incidence rates increased significantly in boys and girls 5 to 9 and 10 to 14 years of age, with the strongest increase in the age group 10 to 14 years. The observed increases were mainly due to increased incidence rates during soccer and gymnastics at school. CONCLUSIONS: This population-based study revealed a substantial sports-related increase in the incidence rate of wrist fractures in boys and girls aged 5 to 9 and 10 to 14 years in the period 1997 to 2009. CLINICAL RELEVANCE: With knowledge of the epidemiology of wrist fractures, prevention programs can be improved. From this study, we know that the incidence rate of wrist fractures in childhood is increasing, mainly as a result of soccer and gymnastics at school. Future sport injury research and surveillance data are necessary to develop new prevention programs based on identifying and addressing specific risk factors, especially in young athletes.

In vitro assessment of apheresis and pooled buffy coat platelet components suspended in plasma and SSP+ photochemically treated with amotosalen and UVA for pathogen inactivation (INTERCEPT Blood System™).

BACKGROUND AND OBJECTIVES: INTERCEPT Blood System™ is a pathogen inactivation system for blood components. The initial approval required a platelet component to be suspended in a combination of plasma and Platelet additive Solution/PAS-III. Improved platelet storage has been reported with Mg++ and K+ supplementation (PAS-IIIM). This study validated the use of INTERCEPT™/PAS-IIIM for apheresis and pooled buffy-coat platelet components. MATERIALS AND METHODS: The platelet dose and pH throughout 5 days of storage met the European and French requirements for quality standards. RESULTS AND CONCLUSION: Additional metabolic and activation assessments of the treated platelets confirmed the previously reported superiority of PAS-IIIM over PAS-III, but extended it to the INTERCEPT™ process.

Impact of immunosuppressive therapy on hepatitis C infection after renal transplantation.

BACKGROUND: Among patients after renal transplantation (NTx), hepatitis C virus (HCV) infection is a risk factor for graft loss and patient death caused by hepatic decompensation. Also, HCV has been implicated in the pathogenesis of glomerular diseases in native and transplanted kidneys. Therefore, the aim of this retrospective cohort study was to determine the effects of the widely used calcineurin inhibitors (CNI) cyclosporine A (CsA) and tacrolimus (Tac) on hepatitis C virus replication, inflammatory activity, development of liver fibrosis, and long-term renal graft function. SUBJECTS AND METHODS: A cohort of 71 patients with HCV infection after kidney transplantation under immunosuppression with either CsA or Tac were analyzed for viral kinetics and serum transaminases. In addition, presence of liver fibrosis was detected by non-invasive measurements using the FibroScan. Graft function was determined biochemically. Patients with interferon therapy prior to transplantation were excluded from the study in order to avoid any impact of the antiviral therapy on outcomes. RESULTS: In the early period after transplantation, hepatitis C viral load was lower in patients treated with Tac as compared to CsA. This effect became negligible 3 months after transplantation. However, hepatic inflammatory activity was reduced in the CsA-treated group. Extent of liver fibrosis was similar in both groups of HCV-infected patients as well as in a control group of non-HCV-infected patients after renal transplantation (NTx), respectively. Renal function and glomerular filtration rate, as calculated by the modification of diet in renal disease (MDRD) formula, were significantly better in patients treated with Tac. CONCLUSIONS: During long-term immunosuppression, the CNIs cyclosporine A versus tacrolimus showed no significant differences in HCV-infected patients after renal transplantation with respect to viral replication and development of liver fibrosis. However, function of the renal graft is significantly better preserved in patients receiving tacrolimus.

[Maintenance for implant-retained overdentures. An inventory of long-term costs]. / Nazorg aan overkappingsprothesen op implantaten. Een inventarisatie van de kosten op de lange termijn.

The maintenance costs for implant-retained overdentures are the subject of this study. A Pubmed Medline search was performed on the basis of the combination of the mesh terms 'maintenance', 'implant' and 'overdenture'. Eventually 85 publications were identified that met the initial selection criteria. For a subsequent selection, maintenance had to be the primary outcome measure, an observation period of 5 year or more was required and it had to be possible to capitalise the maintenance costs. Four articles remained as a result of this filtering procedure, 2 of which came from Dutch institutes. The findings were reasonably consistent. The structural costs for maintenance of implant-retained overdentures during the first 10 years was estimated at 1,400 Euro. It is expected that an overdenture on implants in the mandible will be replaced after a mean period of 12 years. For both outcome measures considerable individual variance applies.

[A description of a population with severe oligodontia]. / Beschrijving van een populatie met ernstige oligodontie.

The dentition of 116 patients with a non-syndromic form of oligodontia was characterized. For this purpose use was made of the so-called Tooth Agenesis Code (TAC), with which the various patterns of missing teeth can be indicated with a unique number. Oligodontia can present itself in very diverse ways. Only 3 patterns were seen (2 times) among these 116 patients. Considered per quadrant, in the upper jaw, on the one hand, agenesis of both premolars and the lateral incisor was most common and, on the other, the absence of all teeth except the central incisor and the first molar. In the lower jaw, agenesis of the second or of both premolars was most common. Evaluating treatments and formulating standards of restoration in the treatment of patients with severe oligodontia are methodological challenges. Homogeneous, comparable sub-groups of patients of any size are difficult to construct due to the low prevalence of severe oligodontia and the diversity of patterns of agenesis when the whole mouth is taken into consideration.

[Prosthetic dilemmas. Connecting natural teeth and implants]. / Prothetische dilemma's. Het verbinden van natuurlijke gebitselementen en implantaten.

In clinical practice, the prognosis seems, with some reservations, to be comparable for tooth-implant and implant-implant supported bridges in the middle-long term.This conclusion seems particularly valid for tooth-implant bridges in free-end situations, where a single implant is connected with a tooth. Prerequisites are a healthy tooth abutment, a pontic length not exceeding the width of a bicuspid, a rigid connection between implant and tooth and the use of strong cement.

Mosaic maternal uniparental isodisomy for chromosome 7q21-qter.

Uniparental disomy (UPD) for several human chromosomes is associated with clinical abnormalities. We report the case of a 2-year-old boy with severe intrauterine and post-natal growth retardation (IUGR/PNGR) and highly variable sweat chloride concentrations. The patient was identified as heterozygous for the F508del mutation of the CFTR (cystic fibrosis transmembrane conductance regulator) gene. Unexpectedly, the signal corresponding to the maternally inherited F508del allele appeared much more intense than the paternally derived wild allele. Molecular analysis including polymorphic marker studies, microsatellites and single-nucleotide polymorphisms subsequently showed that the boy was a carrier of a de novo mosaic maternal isodisomy of a chromosome 7 segment while there was a biparental inheritance of the rest of the chromosome. This is the first report of a mosaic partial UPD7. The matUPD7 segment at 7q21-qter extends for 72.7 Mb. The karyotype (550 bands) of our patient was normal, and fluorescence in situ hybridization with probes mapping around the CFTR gene allowed us to rule out a partial duplication. The detection of this chromosomal rearrangement confirms the hypothesis that the 7q31-qter segment is a candidate for the localization of human imprinted genes involved in the control of IUGR and PNGR. It also emphasizes the importance of searching for UPD7 in severe, isolated and unexplained IUGR and PNGR.