Prevalence and development of orthopaedic symptoms in the dutch hurler patient population after haematopoietic stem cell transplantation.

Hurler syndrome (MPS-IH) is a rare autosomal recessive lysosomal storage disease. Besides a variety of other features, Hurler syndrome is characterized by a range of skeletal abnormalities known as dysostosis multiplex. Despite the successful effect of haematopoietic stem cell transplantation on the other features, dysostosis remains a disabling symptom of the disease. This study analyzed the status and development of the orthopaedic manifestations of 14 Dutch Hurler patients after stem cell transplantation.Data were obtained retrospectively by reviewing patients' charts, radiographs and MRIs. Existing methods to measure the deficiencies were modified to optimally address the dysostosis. These measurements were done by two of the authors independently. The odontoïd/body ratio, kyphotic angle, scoliotic angle and parameters for hip dysplasia and genu valgum were measured and plotted against age. The degree of progression was determined. The intraclass correlation coefficient (ICC) was calculated to determine the reliability of the measurements.All patients showed hypoplasia of the odontoïd, which significantly improved during growth. Kyphosis in the thoracolumbar area was present in 13 patients and proved to be progressive. Scoliosis was observed in eight patients. Hip dysplasia was present in all patients and showed no tendency of improvement. In all but one patient, knee valgus remained more than two standard deviations above normal.Dysostosis remains a major problem after haematopoietic stem cell transplantation in Hurler patients. Moreover, except for dens hypoplasia, it appears to be progressive and therefore surgical interventions may be necessary in the majority of these patients.

Coping with parental cancer: web-based peer support in children.

OBJECTIVE: To investigate the use and content of web-based peer support in children coping with parental cancer. METHODS: In children aged above 12 years, 158 forum discussions on the Dutch website www.kankerspoken.nl in a time-period of 3 months were investigated. Age, gender, number of discussions, participation and main activities on the website were quantitatively assessed. Contents of the discussions were qualitatively analyzed. RESULTS: In total, 129 children and 8 adults participated on the website with an average age of 15.3 years. The majority was female (80%). On average, a child was on-line for 3 days and participated in 4 to 5 forum discussions. Main activities on the website were sharing personal experience, providing encouragement/support, providing and seeking information or advice and seeking contact outside of the website. Qualitative content analysis revealed that children regularly faced emotional problems and experienced a lack of understanding and communication in their direct environment. CONCLUSIONS: In dealing with parental cancer, children experience a variety of difficulties. This study offers a window into the use of web-based peer support by children dealing with parental cancer.

Evaluation of a face-to-face psychosocial screening intervention for cancer patients: acceptance and effects on quality of life.

OBJECTIVE: This study evaluated a psychosocial screening intervention that offers cancer patients counselling. The assumption underlying the intervention was that barriers are often present that hamper patients' awareness of and active request for psychosocial care. An active yet unobtrusive approach was hypothesized to improve accessibility to psychosocial services. METHODS: In a sequential cohort design, patients newly admitted to the oncology department of an academic hospital were assigned to a usual care group (n=50) or a screening group (n=79). A retrospective, medical records group (n=89) was also included. At baseline and 4 weeks following discharge, the usual care and screening groups completed mental health and quality of life questionnaires. RESULTS: Half the screening group actually wanted and received counselling. At follow-up, the screening group reported significantly less pain, better mental health and better physical and role functioning than the usual care group. CONCLUSION: The face-to-face screening intervention appears an effective means of identifying patients interested in obtaining formal psychosocial counselling, and may result in improvements in physical and mental health outcomes. PRACTICE IMPLICATIONS: This screening intervention may be particularly useful for hospitals that prefer a personal approach to psychosocial screening, but do not have sufficient resources to interview every new patient.

Influence of cataract on optical coherence tomography image quality and retinal thickness.

BACKGROUND: As optical coherence tomography (OCT) is widely used for diagnosis and monitoring of ocular pathology, especially in the elderly people, the influence of cataract on image quality and macular retinal thickness was studied. METHODS: In 29 patients scheduled for cataract surgery, preoperative and postoperative OCT scans were obtained. Cataracts were categorised as nuclear, posterior or cortical. Parameters for image quality (signal-to-noise ratio (SNR)) and signal strength and macular thickness were compared. A three-level expert grading scale was used to evaluate the discriminative abilities of SNR and signal strength. RESULTS: Nuclear cataracts (n = 12) provided better preoperative scans (higher SNR/signal strength) than posterior (n = 7) and cortical (n = 10) cataracts (p<0.004). Postoperatively SNR and signal strength increased significantly in all patients (p<0.001). The SNR was better at discriminating poor from acceptable and good scans than signal strength (area under the receiver operating curve: 0.879 and 0.810, respectively). Postoperative macular thickness overall showed a significant increase (p = 0.005), most evident in patients with posterior cataracts (p = 0.028). CONCLUSIONS: OCT imaging is influenced by cataract; image quality is reduced preoperatively and macular thickness measurements are slightly increased postoperatively. In individual patients, OCT scans remain reliable for gross clinical interpretation, even in the presence of cataract.

[Psychosocial counseling after diagnosis for non-carriers of hereditary breast cancer or ovarian cancer; is it needed?]. / Psychosociale begeleiding bij vastgesteld niet-dragerschap van erfelijke borstkanker of eierstokkanker; noodzaak of luxe?

In 4 women, aged 29, 44, 51 and 63 years, from families with hereditary breast and ovarian cancer (BRCA1 and BRCA2), DNA testing had shown that they were non-carriers of a genetic mutation. They were invited for a study of what this finding meant to them. Two of them had no problems and 2 experienced psychological problems such as guilt feelings and distress from changed future perspectives. Psychosocial care was offered. One woman first accepted the psychosocial care, but later refused, because talking provoked painful memories. One woman got psychosocial care in the region where she lived. To select women with distress who need psychosocial care after being identified as non-carriers, the counsellor could ask after deaths in the family, the kind of contact in the family, complaints of gloominess or worrying, and previous psychosocial therapy.