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101.
102.
A 22-year follow-up reveals a variable disease severity in early-onset facioscapulohumeral dystrophy
Rianne J.M. Goselink Caroline R. van Kernebeek Karlien Mul Richard J.L.F. Lemmers Silvère M. van der Maarel Oebele F. Brouwer Nicol Voermans George W. Padberg Corrie E. Erasmus Baziel G.M. van Engelen 《European journal of paediatric neurology》2018,22(5):782-785
Aim
To assess the long-term natural course of early-onset facioscapulohumeral dystrophy (FSHD), which is important for patient management and trial-readiness, and is currently lacking.Methods
We had the unique opportunity to evaluate 10 patients with early-onset FSHD after 22 years follow-up. Patients underwent a semi-structured interview, physical examination and additional genotyping.Results
Nine initial study participants (median age 37 years) were included, one patient died shortly after first publication. At first examination, one patient was wheelchair dependent, one patient walked aided, and eight patients walked unaided. After 22 years, four patients were wheelchair dependent, three walked aided, and two walked unaided. Systemic features, including hearing loss (56%), intellectual disability (44%), and a decreased respiratory function (56%), were frequent. Patients participated socially and economically with most patients living in a regular house (n = 6) and/or having a paid job (n = 4).Discussion
Patients with early-onset FSHD generally had a severe phenotype compared to classical onset FSHD. However, after 22 years of follow up they showed a wide variation in severity and, despite these physical limitations, participated socially and economically. These observations are important for patient management and should be taken into account in clinical trials. 相似文献103.
van Alphen SP Engelen GJ Kuin Y Derksen JJ 《International journal of geriatric psychiatry》2006,21(3):205-209
Little is known about the course of personality disorders across the life span. A major problem is that the current DSM nosology for personality disorders does not account for age-associated changes in behaviour and interpersonal functioning. This editorial will discuss the main diagnostic bottlenecks when applying the current DSM-IV-TR Axis II criteria to older adults. Subsequently, suggestions will be given for future research and the development of a geriatric sub-classification. 相似文献
104.
van de Warrenburg BP Scheffer H van Eijk JJ Versteeg MH Kremer H Zwarts MJ Schelhaas HJ van Engelen BG 《Neuromuscular disorders : NMD》2006,16(2):122-125
Mutations in the BSCL2 gene have recently been identified in families with (SPG17-linked) Silver syndrome-type hereditary spastic paraparesis as well as in families with distal hereditary motor neuropathy (HMN). We describe the first two Dutch families with BSCL2 mutations and corroborate the phenotypic variability of this gene mutation, as features compatible with Silver syndrome, variant Silver syndrome (with predominant foot rather than hand muscle involvement), distal HMN type II, or distal HMN type V were all encountered. 相似文献
105.
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107.
Klaartje van Engelen Johannes H. M. Merks Jan Lam Leontien C. M. Kremer Manouk Backes Marieke J. H. Baars Heleen J. H. van der Pal Alex V. Postma Rogier Versteeg Huib N. Caron Barbara J. M. Mulder 《European journal of pediatrics》2009,168(9):1081-1090
Data on the prevalence of congenital heart defects (CHD) in neuroblastoma patients are inconsistent. If CHD are more common
in neuroblastoma patients than in the general population, cardiac screening might be warranted. In this study we used echocardiography
to determine the prevalence of CHD in a single centre cohort of surviving neuroblastoma patients. In addition, we performed
a systematic review of the literature. Echocardiography was performed in 119 of 133 patients (89.5%). Only two patients (1.7%)
had CHD. The prevalence of CHD was not significantly different from a previously published control group of 192 leukaemia
patients examined by echocardiography (P = 0.49). Literature search revealed 17 studies, showing prevalence rates of CHD in neuroblastoma patients ranging from 0
to 20%. Prevalence was less than 3.6% in the majority of studies. Most studies lacked information on validity. We conclude
that current evidence does not support standard cardiac screening in all patients with neuroblastoma. 相似文献
108.
P Brouwers M van Engelen F Lalonde L Perez E de Haan P Wolters A Martin 《Journal of the International Neuropsychological Society》2001,7(4):491-501
Language deficits are a major characteristic of neurobehavioral dysfunction in pediatric HIV disease. An object decision task, which assessed reaction time facilitation following a semantic or identical prime in comparison to an unrelated prime, was used to investigate whether semantic processing abnormalities could be responsible, in part, for these deficits. Thirty children with vertically acquired HIV infection (M age 9.0 years; range 6-13) participated. Either a picture of the same object (repetition prime), a semantically related object (semantic prime), a semantically unrelated object, or a nonsense object preceded a target picture, which in 50% of the cases was a real object. Brain scans of children were rated and used together with neurobehavioral functioning to classify children as having HIV-related CNS abnormalities (n = 13) or not (n = 17). Increased semantic priming but not repetition priming was associated with a greater degree of cortical atrophy. Furthermore, CNS compromised children had significantly faster reaction times following a semantic prime compared to an unrelated prime than non-compromised patients. This facilitation following semantic priming for the CNS compromised patients (13.3%) almost equaled the facilitation following repetition priming (15.3%) while for the non-compromised patients facilitation following semantic priming (7.9%) was clearly smaller than following repetition priming (14.6%). These data suggest that HIV infection in children may result in a reduced neural network leading to impoverished semantic representations characterized by poor differentiation between closely related objects. 相似文献
109.
Margje Sinnema Kees E P van Roozendaal Marian A Maaskant Hubert J M Smeets John J M Engelen Nieke Jonker-Houben Constance T R M Schrander-Stumpel Leopold M G Curfs 《European journal of human genetics : EJHG》2010,18(9):993-998
The Prader–Willi syndrome (PWS) is a genetic disorder caused by the absent expression of the paternal copy of maternally imprinted genes in chromosome region 15q11–13. The frequencies of different subtypes in PWS are usually given in literature as 70% deletion, 25–30% maternal uniparental disomy (mUPD) and 3–5% others (imprinting centre (IC) defects and translocations). Little is known about factors that influence the frequency of genetic subtypes in PWS. The study sample comprised 102 adults with clinically and genetically confirmed PWS, contacted through the Dutch Prader–Willi Parent Association and through physicians specialized in treating persons with intellectual disabilities. Genetic testing showed 55 persons (54%) with a paternal deletion, 44 persons (43%) with an mUPD and 3 persons (3%) with a defect of the IC. The observed distribution in our study differed from that in literature (70% deletion, 30% mUPD), which was statistically significant (z-score: P<0.05). This was mainly caused by a higher proportion of mUPD in the advanced age groups. Differences in maternal age and BMI of persons with PWS could not explain the differences in distribution across the age groups. Our study population had a much broader age range, compared with other studies, because of a predominance of elderly people (40+ years) with PWS. In other studies, these elderly persons might have been undiagnosed and/or underreported because of a lack of genetic diagnosis. The results underline both the need for correct genetic diagnosis in all persons with PWS and adjustment of the guidelines for preventive management in adulthood. 相似文献
110.
Pouwels MJ Span PN Tack CJ Olthaar AJ Sweep CG van Engelen BG de Jong JG Lutterman JA Hermus AR 《The Journal of clinical endocrinology and metabolism》2002,87(11):5179-5184
Animal studies suggest that overactivity of the hexosamine pathway, resulting in increased UDP-hexosamines [UDP-N-acetylglucosamine (UDP-GlcNAc) and UDP-N-acetylgalactosamine (UDP-GalNAc)] is an important mechanism by which hyperglycemia causes insulin resistance. This study was performed to test this hypothesis in patients with type 2 diabetes mellitus (DM). Eight obese patients with uncontrolled DM type 2 and severe insulin resistance were treated with iv insulin for 28 +/- 6 d aimed at euglycemia. Before and after iv insulin treatment, insulin sensitivity was measured using a hyperinsulinemic euglycemic clamp, and a muscle biopsy was taken for measurement of UDP-GlcNAc, UDP-GalNAc, UDP-glucose, and UDP-galactose levels. Also, isoelectric focusing patterns of serum transferrin and the urinary excretion of glycosaminoglycans as measures of final products of the hexosamine pathway were examined. After euglycemia, insulin resistance improved, as demonstrated by an increase in the glucose infusion rate during the clamp from 12.7 +/- 5.6 to 22.4 +/- 8.8 micro mol/kg.min (P < 0.0005) and a decrease in insulin requirement from 1.7 +/- 0.9 to 1.1 +/- 0.6 U/kg.d (P < 0.005), whereas metabolic control improved. Surprisingly, both UDP-GlcNAc, from 8.81 +/- 1.21 to 12.31 +/- 2.52 nmol/g tissue (P < 0.005), and UDP-GalNAc concentrations, from 4.49 +/- 0.85 to 5.89 +/- 1.55 nmol/g tissue (P < 0.05) increased. Isoelectric focusing patterns of serum transferrin and excretion of glycosaminoglycans were similar before and after euglycemia. In conclusion, after amelioration of hyperglycemia- induced insulin resistance, UDP-hexosamines increased in skeletal muscle of patients with type 2 DM. These results do not support the hypothesis that accumulation of products of the hexosamine pathway plays a major role in hyperglycemia-induced insulin resistance. 相似文献