Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.

Abnormal gut motility is a feature of several mitochondrial encephalomyopathies, and mutations in genes such as TYMP and POLG, have been linked to these rare diseases. The human genome encodes three DNA ligases, of which only one, ligase III (LIG3), has a mitochondrial splice variant and is crucial for mitochondrial health. We investigated the effect of reduced LIG3 activity and resulting mitochondrial dysfunction in seven patients from three independent families, who showed the common occurrence of gut dysmotility and neurological manifestations reminiscent of mitochondrial neurogastrointestinal encephalomyopathy.

How to learn skilled communication in primary care MUS consultations: a focus group study.

Background: Many general practitioners (GPs) experience communication problems in medically unexplained symptoms (MUS) consultations as they are insufficiently equipped with adequate communication skills or do not apply these in MUS consultations.

Objective: To define the most important learnable communication elements during MUS consultations according to MUS patients, GPs, MUS experts and teachers and to explore how these elements should be taught to GPs and GP trainees.

Methods: Five focus groups were conducted with homogeneous groups of MUS patients, GPs, MUS experts and teachers.

General practitioners' perspectives on management of early-stage chronic kidney disease: a focus group study.

Background: Guideline adherence in chronic kidney disease management is low, despite guideline implementation initiatives. Knowing general practitioners' (GPs') perspectives of management of early-stage chronic kidney disease (CKD) and the applicability of the national interdisciplinary guideline could support strategies to improve quality of care.

Method: Qualitative focus group study with 27 GPs in the Netherlands.

How family physicians address diagnosis and management of depression in palliative care patients.

Purpose: Depression is highly prevalent in palliative care patients. In clinical practice, there is concern about both insufficient and excessive diagnosis and treatment of depression. In the Netherlands, family physicians have a central role in delivering palliative care.

Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis.

Heterozygous fumarate hydratase (FH) germline mutations cause hereditary leiomyomatosis and renal cell cancer (HLRCC), an autosomal dominant syndrome characterized by multiple cutaneous piloleiomyomas, uterine leiomyomas and papillary type 2 renal cancer. The main objective of our study was to evaluate clinical and genetic data from families suspected of HLRCC on a nationwide level. All families referred for FH mutation analysis in the Netherlands were assessed.

Explanation and relations. How do general practitioners deal with patients with persistent medically unexplained symptoms: a focus group study.

Background: Persistent presentation of medically unexplained symptoms (MUS) is troublesome for general practitioners (GPs) and causes pressure on the doctor-patient relationship. As a consequence, GPs face the problem of establishing an ongoing, preferably effective relationship with these patients. This study aims at exploring GPs' perceptions about explaining MUS to patients and about how relationships with these patients evolve over time in daily practice.

Enhancing patient participation by training radiation oncologists.

Objective: Several studies have shown that patients' active participation to their medical interaction is beneficial for their information processing and their quality of life. Unfortunately, cancer patients often act rather passively in contact with their oncologists. We investigated whether cancer patients' participation in radiation therapy consultations could be enhanced by specific communicative behaviours of the radiation oncologists (ROs).

Cognitive evaluation in adult patients with Möbius syndrome.

Objective: To establish the occurrence of mental retardation in a group of patients with Möbius syndrome and subsequently, if mental retardation is absent, to screen major aspects of memory and attention, in order to assess possible pervasive dysfunction in these cognitive domains which might be responsible for the current view that mental retardation occurs frequently in Möbius syndrome.

Methods: In a group of 12 Dutch Möbius patients, intellectual performance, memory function and attention were assessed using a number of standardized neuropsychological tests.

Results: The mean general intellectual performance did not differ significantly from that of the Dutch population.

Interaction between the human hippocampus and the caudate nucleus during route recognition.

Navigation through familiar environments can rely upon distinct neural representations that are related to different memory systems with either the hippocampus or the caudate nucleus at their core. However, it is a fundamental question whether and how these systems interact during route recognition. To address this issue, we combined a functional neuroimaging approach with a naturally occurring, well-controlled human model of caudate nucleus dysfunction (i.

Central coherence and cognitive shifting in relation to social improvement in high-functioning young adults with autism.

The objective of this prospective study was to evaluate the possible role of two cognitive styles--weak central coherence and poor cognitive shifting--in predicting social improvement in patients with autistic disorder. Thirty patients, largely similar in age (young adults), intelligence (high-functioning) and living conditions (residential treatment in the same unit) were assessed at two separate time points with a 3-year interval between pretest and posttest. At pretest central coherence, cognitive shifting and several aspects of social functioning--symptom severity, social intelligence and social competence--were measured.

Cognitive styles in high-functioning adolescents with autistic disorder.

This study addressed the operationalization, the identification, and the prevalence of weak central coherence and poor cognitive shifting in 35 high-functioning adolescents with autism. Central coherence and cognitive shifting were represented by two factors in a factor analysis, each reflecting a constituent aspect of the domain in question. With regard to central coherence, these aspects were the ability of piecemeal processing and the ability to process meaning.

Relationship between memory strategies and motor symptoms in Parkinson's disease.

Patients with Parkinson's disease(PD) show a serious decrease in performance on tasks which lack explicit guidelines and which necessitate the subject to develop his or her own strategy. Using the California Verbal Learning Task(CVLT) we have found evidence that this phenomenon becomes also manifest in learning and memory. The goal of the present study on PD was to investigate whether or not there is an intrinsic relationship between PD-specific deviant learning characteristics and the severity of motor symptomatology.

The Symptom Checklist-90 Revised questionnaire: no psychological profiles in complex regional pain syndrome-dystonia.

Complex regional pain syndrome (CRPS) is a syndrome usually localized in the extremities, mostly occurring after a preceding trauma or operation. Dystonia is present in a minority of CRPS patients, but, when present, leads to severe disability. Various pathological factors have been postulated to present in CRPS-dystonia, such as involvement of the sympathetic system, reorganization of the central nervous system, and psychological distress.

Cognitive deficits following stroke in the basal ganglia.

Objective: To examine the effect of a stroke in the basal ganglia on cognitive functioning.

Design: As part of a larger prospective study on the neuropsychological and psychosocial consequences of stroke, 12 patients with a stroke confined to the basal ganglia were examined.

Setting: The patients were assessed in one of the three participating hospitals.

[Cognitive deficits in Parkinson's disease].

In neuropsychological studies of Parkinson's disease, cognitive deficits are frequently reported, but the nature of these deficits is not clear. As far as cognitive deficits are manifest in parkinsonian patients at an early stage of the disease, many studies tend to describe them as fitting a frontal syndrome. As a consequence of dysfunction of the striatum, the (pre)frontal cortex receives deficient input from the striatum, which might explain the similarity of the cognitive deficits of parkinsonian patients with those of patients with frontal dysfunction.

Memory performance under varying cueing conditions in patients with Parkinson's disease.

The present study is a continuation of a previous study in memory performance which showed that Parkinson's disease (PD) patients increasingly relied on explicit cues which prompt the external strategy of serial clustering, in comparison to control subjects (CS), who profited increasingly from implicit cues which prompt the internal and more effective strategy of semantic clustering. In this study, we investigated whether the recall of PD patients can be affected by adding or removing explicit cues. We manipulated the California Verbal Learning Test in two ways.

Executive functions and disease characteristics in Parkinson's disease.

In the present study, we investigated the association of two executive functions with disease characteristics in Parkinson's disease (PD), especially with severity of motor symptoms. We operationalized two executive functions, viz. fluency and cognitive shifting, each in a number of tests with heterogeneous materials, but with an identical format.

Card sorting performance in Parkinson's Disease: a comparison between acquisition and shifting performance.

In the present study we tested the hypothesis that learned irrelevance underlies the frequently observed poor performance of Parkinson's disease (PD) patients on card sorting tests. If learned irrelevance accounts for the poor performance of PD patients on card sorting tests, PD patients and control subjects (CS) will not differ in the acquisition phase, during which basic concept formation is assessed, but they will differ in the subsequent shifting phases. We presented three distinct card sorting tests with an identical format to 51 PD patients and 24 normal controls.

Cognitive function in early adult and adult onset myotonic dystrophy.

Introduction: Most studies revealing intellectual deficits in myotonic dystrophy (MyD) involved heterogeneous groups of patients with respect to intelligence and onset of disease. The present study was undertaken to investigate whether patients with early adult and adult MyD show subtle cognitive deficits despite a normal intelligence.

Materials And Methods: We compared 26 MyD patients of normal intelligence with mild symptoms and early adult and adult onset to 25 matched control subjects (CS) on a range of neuropsychological tests and a number of motor tasks of increasing complexity, which required increasing cognitive control.

Memory and learning strategies in patients with Parkinson's disease.

Parkinson's disease patients (PD) do not differ from control subjects (CS) when they have to execute a problem solving task in which external cues for solving the problem are given. However, when PD have to solve a problem by means of an internally generated strategy, they show a serious decrease in performance. We hypothesised that this distinction may also apply to the way PD and CS organize recall.

Cognitive shifting as a predictor of progress in social understanding in high-functioning adolescents with autism: a prospective study.

Although striking and pervasive failure of social understanding is commonly viewed as a major defining characteristic of people with autism, few follow-up reports were published that have focused on improvement of social intelligence. In this prospective study in which 17 high-functioning adolescents with autism were involved, cognitive shifting as measured by card sorting tests, unlike overall intelligence, was shown to be the only significant factor in predicting progress in social understanding as assessed by social comprehension tests. A pretest-posttest design was used.

Impaired cognitive shifting in parkinsonian patients on anticholinergic therapy.

In this study we established that cognitive shifting, an ability that is known to be affected in PD, is more impaired in PD patients, treated with anticholinergics, than in de novo patients. Eleven PD patients on anticholinergic monotherapy were compared with 30 de novo patients. The groups did not differ with respect to age, duration and severity of PD, and depression, nor with respect to general intelligence or attention.

Bimanual simultaneous motor performance and impaired ability to shift attention in Parkinson's disease.

The ability to share time and to shift attention between bimanual simultaneous motor tasks were studied in 18 patients with Parkinson's disease (PD) and 19 age- and intelligence-matched controls. The task consisted of drawing triangles with the dominant hand and squeezing a rubber bulb with the nondominant hand. Motor performance was measured using the variables: amplitude of squeezing, frequency of squeezing and velocity of drawing triangles.