Health outcomes of 1000 children born to mothers with inflammatory bowel disease in their first 5 years of life.

Objective: The aim of this study was to describe the long-term health outcomes of children born to mothers with inflammatory bowel disease (IBD) and to assess the impact of maternal IBD medication use on these outcomes.

Design: We performed a multicentre retrospective study in The Netherlands. Women with IBD who gave birth between 1999 and 2018 were enrolled from 20 participating hospitals.

Effect of Cognitive Behavioral Therapy on Clinical Disease Course in Adolescents and Young Adults With Inflammatory Bowel Disease and Subclinical Anxiety and/or Depression: Results of a Randomized Trial.

Background: Anxiety and depressive symptoms are prevalent in patients with inflammatory bowel disease (IBD) and may negatively influence disease course. Disease activity could be affected positively by treatment of psychological symptoms. We investigated the effect of cognitive behavioral therapy (CBT) on clinical disease course in 10-25-year-old IBD patients experiencing subclinical anxiety and/or depression.

Effectiveness of Disease-Specific Cognitive Behavioral Therapy on Anxiety, Depression, and Quality of Life in Youth With Inflammatory Bowel Disease: A Randomized Controlled Trial.

Objective: To evaluate the effectiveness of a disease-specific cognitive behavioral therapy (CBT) protocol on anxiety and depressive symptoms and health-related quality of life (HRQOL) in adolescents and young adults with inflammatory bowel disease (IBD).

Method: A parallel group randomized controlled trial was conducted in 6 centers of (pediatric) gastroenterology. Included were 70 patients and young adults (10-25 years) with IBD and subclinical anxiety and/or depressive symptoms.

Clinical Course of Nodular Regenerative Hyperplasia in Thiopurine Treated Inflammatory Bowel Disease Patients.

Nodular regenerative hyperplasia (NRH) is a poorly understood liver condition, which is increasingly recognized in thiopurine-treated patients with inflammatory bowel disease (IBD). It is difficult to establish an optimal approach to NRH patients, because its manifestations are highly variable (from asymptomatic to symptoms of noncirrhotic portal hypertension [NCPH]) and the prognosis is unknown. The aim of this study was to identify NRH cases in IBD patients treated with azathioprine, mercaptopurine, and/or thioguanine, and to describe its clinical course.

Benefit of Earlier Anti-TNF Treatment on IBD Disease Complications?

Background: Anti-tumour necrosis factor [anti-TNF] treatment was demonstrated to have disease-modifying abilities in inflammatory bowel disease [IBD]. In this study, we aimed to determine the effect of anti-TNF treatment timing on IBD disease complications and mucosal healing [MH].

Methods: The following IBD-related complications were tested in relation to timing of anti-TNF therapy start in newly diagnosed IBD patients [n = 413]: fistula formation, abscess formation, extra-intestinal manifestations [EIM], surgery, referral to academic centre, and MH.

Phenotype of inflammatory bowel disease at diagnosis in the Netherlands: a population-based inception cohort study (the Delta Cohort).

Background: To describe the clinical characteristics of inflammatory bowel disease (IBD) at diagnosis in The Netherlands at the population level in the era of biologics.

Methods: All patients with newly diagnosed IBD (diagnosis made between January 1, 2006 and January 1, 2007) followed in 9 general hospitals in the southwest of the Netherlands were included in this population-based inception cohort study.

Results: A total of 413 patients were enrolled, of which 201 Crohn's disease (CD) (48.

White matter abnormalities in gene-positive myoclonus-dystonia.

Myoclonus-dystonia is an autosomal dominantly inherited movement disorder clinically characterized by myoclonic jerks and dystonic movements of the upper body. Functional imaging and structural gray matter imaging studies in M-D suggest defective sensorimotor integration and an association between putaminal volume and severity of dystonia, possibly because of neuronal plasticity. As we expect changes in the connections between the cortical and subcortical regions, we performed a combination of white matter voxel-based morphometry (wVBM) and diffusion tensor imaging (DTI) to detect macro- and microstructural white matter changes, respectively, in DYT-11 mutations carriers (M-D).

The transferrin/log(ferritin) ratio: a new tool for the diagnosis of iron deficiency anemia.

Background: Serum ferritin is the best single laboratory test to diagnose iron deficiency anemia (IDA). Ferritin levels <20 μg/L are highly specific for IDA, and ferritin levels >100 μg/L usually exclude IDA. However, ferritin concentrations between 20 and 100 μg/L are often inconclusive.

Deep Brain Stimulation of the Pallidum is Effective and Might Stabilize Striatal D(2) Receptor Binding in Myoclonus-Dystonia.

Purpose: To assess clinical efficacy of deep brain stimulation (DBS) of the pallidum in Myoclonus-Dystonia (M-D) patients, and to compare pre- and post-operative striatal dopamine D2 receptor availability.

Methods: Clinical parameters were scored using validated rating scales for myoclonus and dystonia. Dopamine D2 receptor binding of three patients was studied before surgery and approximately 2 years post-operatively using 123-I-iodobenzamide Single Photon Emission Computed Tomography.

Screening for gastrointestinal malignancy in patients with iron deficiency anemia by general practitioners: an observational study.

Background: The prevalence of iron deficiency anemia (IDA) is 2-5% in men and postmenopausal women in the developed world. IDA is commonly caused by chronic gastrointestinal blood loss, and a thorough examination of the gastrointestinal tract must be standard practice.

Objective: To retrospectively study endoscopic evaluations of patients from general practitioners diagnosed with IDA in a peripheral hospital laboratory in order to determine the cause of IDA and the number of gastrointestinal malignancies.

Functional magnetic resonance imaging evidence of incomplete maternal imprinting in myoclonus-dystonia.

Background: Myoclonus-dystonia is an autosomal dominantly inherited movement disorder, clinically characterized by myoclonic jerks and dystonic postures or movements. A previous functional magnetic resonance imaging study showed altered cortical activation patterns in clinically affected SGCE mutation carriers when compared with controls consistent with defective sensorimotor integration. Genetically, the disorder is characterized by the maternal imprinting mechanism; ie, patients who inherit the mutation from their fathers will develop symptoms.

Severity of dystonia is correlated with putaminal gray matter changes in myoclonus-dystonia.

Background: Myoclonus-dystonia (M-D) is an autosomal dominantly inherited movement disorder characterized by myoclonic jerks and dystonic postures or movements. Morphometric studies have been performed in other, mainly heterogenous, types of dystonia producing conflicting results. However, all these studies agree on abnormalities in sensorimotor structures, mainly in the basal ganglia.

The risk of inflammatory bowel disease-related colorectal carcinoma is limited: results from a nationwide nested case-control study.

Objectives: The risk for inflammatory bowel disease (IBD)-related colorectal cancer (CRC) remains a matter of debate. Initial reports mainly originate from tertiary referral centers, and conflict with more recent studies. Overall, epidemiology of IBD-related CRC is relevant to strengthen the basis of surveillance guidelines.

Disorganized sensorimotor integration in mutation-positive myoclonus-dystonia: a functional magnetic resonance imaging study.

Background: Myoclonus-dystonia is an autosomal dominantly inherited movement disorder clinically characterized by myoclonic jerks and dystonic postures or movements of the upper body. Functional imaging studies in other, mainly heterogeneous groups of dystonia do agree on dysfunction of the striato-pallido-thalamo-cortical circuit.

Objective: To study cerebral activation patterns with functional magnetic resonance imaging in a genetically defined homogeneous group of patients with dystonia.

Acute motor and sensory axonal neuropathy in LEOPARD syndrome.

A case of acute predominantly axonal motor and sensory neuropathy (AMSAN) is reported in a 16-year-old boy with LEOPARD syndrome (the acronym represents lentigines, ECG conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness). The presentation was atypical for acute motor and sensory axonal neuropathy, in that this patient had progression of symptoms of more than 4 weeks and there were signs of reinnervation in the acute phase. Treatment response to intravenous immunoglobulins was excellent.

Myoclonus-dystonia and spinocerebellar ataxia type 14 presenting with similar phenotypes: trunk tremor, myoclonus, and dystonia.

We describe three genetically confirmed myoclonus dystonia (M-D) patients and one spinocerebellar ataxia type 14 (SCA14) patient, presenting with a combination of trunk tremor, multifocal myoclonus and axial dystonia as predominant clinical features. We suggest that in patients with this M-D phenotype, without a mutation in the DYT11 gene, SCA14 should be considered.

Pontine capillary telangiectasia as visualized on MR imaging causing a clinical picture resembling basilar-type migraine: a case report.

A case of presumed pontine capillary telangiectasia in an 18-year-old woman with a clinical diagnosis of basilar-type migraine is reported. Since both are very rare diagnoses, this case provides some evidence to suggest that pontine capillary telangiectasia might cause a clinical picture resembling basilar-type migraine.

Reduced striatal D2 receptor binding in myoclonus-dystonia.

Purpose: To study striatal dopamine D(2) receptor availability in DYT11 mutation carriers of the autosomal dominantly inherited disorder myoclonus-dystonia (M-D).

Methods: Fifteen DYT11 mutation carriers (11 clinically affected) and 15 age- and sex-matched controls were studied using (123)I-IBZM SPECT. Specific striatal binding ratios were calculated using standard templates for striatum and occipital areas.

50 years thymine dimer.

Fifty years ago thymine dimer was discovered in the Biochemical and Biophysical Laboratory of Delft Technological University, The Netherlands, by one of the authors of this review (Beukers) as the first environmentally induced DNA lesion. It is one of the photoproducts formed between adjacent pyrimidine bases in DNA by UV irradiation, currently known as cyclobutane pyrimidine dimers (CPDs) and (6-4) photoproducts. Major lesions found in DNA after in vitro or in vivo UV irradiation are the cis-syn cyclobutane thymine dimer and the thymine-cytosine (6-4) photoproduct.

[Small-bowel obstruction as the expression of hereditary non-polyposis colorectal carcinoma].

A 25-year-old man underwent periodic coloscopy due to the occurrence of colon carcinoma in the family. At the age of 41, a mutation in the MSH2-gene was detected. More than a year after resection of the sigmoid for recurrent diverticulitis, he developed ileus in the small intestine; in the resected specimen of a non-viable portion of small intestine an adenocarcinoma was found.