Carcinoid crisis after injection of 6-18F-fluorodihydroxyphenylalanine in a patient with metastatic carcinoid.

A carcinoid crisis is a severe complication of the carcinoid syndrome that can arise in patients with advanced metastatic neuroendocrine tumors. It can be initiated by stress, catecholamines, and tumor manipulation. In this article, we report a case in which an injection with the catecholamine tracer 6-18F-fluorodihydroxyphenylalanine, used for PET, induced a carcinoid crisis. Octreotide can be used for treatment and should be available. Tracer injection should be slow.     

Influence of oral contraceptive pills on phenotype expression in women with polycystic ovary syndrome

Polycystic ovarian syndrome (PCOS) is characterized by a heterogeneous phenotype including chronic anovulation, hyperandrogenism and polycystic ovaries. The use of oral contraceptive pills (OCP) alters features characteristic for the syndrome. In the present study, PCOS features were compared between women using or not using OCP at the time of the study. One hundred and one women diagnosed with normogonadotrophic anovulatory infertility were included. A total of 81 (80%) women were diagnosed with PCOS (revised 2003 criteria). From these women, a total of 54 did not use OCP, whereas 27 women did. Corrected for age, women taking OCP had increased serum concentrations of sex hormone-binding globulin (P < 0.001). Serum concentrations of testosterone (P = 0.04) and androstenedione (P = 0.01) were decreased. These differences resulted in a decreased free androgen index for women currently taking OCP compared with women without (P < 0.001). The mean ovarian volume/ovary and the mean follicle number/ovary were not different. Use of OCP influences phenotype expression (the observable trait) of individual women known to suffer from PCOS by reducing hyperandrogenism. Despite taking OCP, women still fulfilled the revised 2003 criteria for the syndrome, as PCO morphology was still present. Hence, OCP use does not appreciably affect the PCOS phenotype.     

Genotypic and phenotypic characterization of Noonan syndrome: new data and review of the literature

Noonan syndrome (NS) is an autosomal dominant disorder, characterized by short stature, minor facial anomalies, and congenital heart defects. In approximately 50% of cases the condition is caused by missense mutations in the PTPN11 gene on chromosome 12, resulting in a gain of function of the protein SHP-2. In this study, PTPN11 mutation analysis was performed in 170 NS patients. In 76 (45%) of them a mutation was identified. We report on the distribution of these mutations, as well as on genotype-phenotype relationships. The benefit of the NS scoring system developed by van der Burgt et al. [(1994); Am J Med Genet 53:187-191] is shown, among physicians who consequently based their diagnosis on the NS scoring system the percentage mutation positive subjects was 54%, whereas this percentage was only 39% among physicians who made less use of the scoring system. In two patients with some uncommon manifestations mutations were found in the C-SH2 domain, a region in which defects are not often identified in NS. A trend was observed in patients carrying the 922A --> G change (Asn308Asp) receiving normal education. In one patient with NS and mild juvenile myelomonocytic leukemia (JMML) the mutation 218C --> T (Thr73Ile) was found. This confirms previous findings indicating that individuals with NS with specific mutations in PTPN11 are at risk of developing JMML.     

Spouses' satisfaction with caregiver support in stroke rehabilitation

OBJECTIVE: To examine the satisfaction of spouses of stroke patients with the support given to them during clinical rehabilitation and to explore the relationships between satisfaction and characteristics of the support received. METHODS: Spouses of patients with a first-ever supratentorial stroke were included (n = 194). Satisfaction was measured on a 0-10 scale. Bivariate and multivariate relationships were studied between overall satisfaction score and characteristics of the support provided (number of full days of attendance, participation in caregiver group, discipline providing most support), the spouses (age, gender, family situation, education and employment) and the patients (activity of daily living (ADL) dependency (Functional Independence Measure), length of stay). RESULTS: The median satisfaction score was 7, and 44% of all spouses scored >or=8 (very satisfied) but 23% were dissatisfied. Spouses' and patients' characteristics and satisfaction scores were not associated. Of the support characteristics the number of full days of attendance (p = 0.02), participation in a caregiver group (p = 0.006) and support received from a team member (p = 0.000) were related to satisfaction. No differences in spouses' satisfaction scores were found between the participating rehabilitation centres. Only 39% of the spouses participated in a caregiver group. The most important reason for not participating in such a group was not being aware of the opportunity to take part in a group (49%). Spouses participating in a group showed more depressive symptoms and had a more severely disabled partner. Caregiver support was primarily given by the nurse and the social worker. One in five spouses indicated not to have been supported at all by the rehabilitation team. CONCLUSION: A large proportion of the caregivers were satisfied with the care they had received, although one in four was dissatisfied. Satisfaction was related to support characteristics.     

A comparison of proximal radioulnar synostosis excision after trauma and distal biceps reattachment

We tested the hypothesis that the results of operative resection of a proximal radioulnar synostosis are better when the synostosis is due to a distal biceps reattachment (11 patients) than when it occurs after trauma (13 patients). Two patients in the trauma cohort had recurrence of the synostosis, and 1 had repeat resection. Two patients in the trauma cohort and 1 in the biceps cohort had substantial loss of forearm rotation due to regrowth of heterotopic ossification without synostosis, and 2 patients were addressed with subsequent surgeries. The arc of forearm rotation after the index surgery averaged 94 degrees in the trauma cohort and 131 degrees in the biceps cohort. This study confirms that operative resection of a proximal radioulnar synostosis can restore substantial motion in most patients. The results for excision of a synostosis after a distal biceps reattachment were better than those of excision of a synostosis after trauma.     

Poststroke fatigue: course and its relation to personal and stroke-related factors

OBJECTIVES: To describe the course of fatigue during the first year poststroke and to determine the relation between fatigue at 1 year poststroke and personal characteristics, stroke characteristics, and poststroke impairments. DESIGN: Inception cohort. SETTING: Rehabilitation center. PARTICIPANTS: Patients (N=167) with a first-ever supratentorial stroke admitted for inpatient rehabilitation. INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURE: The Fatigue Severity Scale measured the presence and impact of fatigue at admittance for inpatient rehabilitation, as well as at 6 months and 1 year poststroke. RESULTS: At admission, 6 months and 1 year poststroke, fatigue was present in 51.5%, 64.1%, and 69.5% of the patients, respectively. Fatigue impact 1 year poststroke was greater among patients with more depressive symptoms, higher age, women, and patients with a locus of control more directed to powerful others. CONCLUSIONS: Because fatigue impact is an increasing problem during the first year poststroke, it deserves more attention in clinical practice and scientific research. Locus of control and depression are related to poststroke fatigue and might be important foci for future interventions.     

Responsiveness of functional health status measures frequently used in stroke research

PURPOSE: To compare the responsiveness of several functional health status measures frequently used in stroke research, namely the Barthel Index (BI), Functional Independence Measure (FIM), Frenchay Activities Index (FAI) and Stroke-Adapted Sickness Impact Profile 30 (SA-SIP 30). METHOD: Patients with a first-ever supratentorial stroke admitted for inpatient rehabilitation were included. Complete datasets for 163 patients were available for analysis. Floor/ceiling effects and responsiveness, quantified by effect sizes, were studied for the periods between rehabilitation admission and six months post stroke (subacute phase) and between six and 12 months post stroke (chronic phase). RESULTS: Effect sizes in the subacute phase were similar and were classified as large for the BI, FIM total and FIM motor score. The FIM cognitive score showed a considerable ceiling effect and had the smallest effect size in the subacute phase. In the chronic phase, the FAI and SA-SIP 30 detected the most changes and had moderate effect sizes. CONCLUSIONS: BI, FIM total and FIM motor score, FAI and SA-SIP 30 were responsive measures. We recommend the use of the BI in the subacute phase and the use of the FAI and SA-SIP 30 in the chronic phase, especially for the stroke rehabilitation population.     

Germline <Emphasis Type="Italic">MUTYH</Emphasis> gene mutations are not frequently found in unselected patients with papillary breast carcinoma

MUTYH- associated polyposis (MAP) is an autosomal recessive disease, which predisposes to polyposis and colorectal cancer. There is a trend towards an increased risk of breast cancer in MAP patients, with a remarkable proportion of papillary breast cancers. To determine whether MUTYH mutations are associated with this specific and rare type of breast cancer, 53 unselected patients with papillary breast cancer were analyzed for founder mutations in the MUTYH gene. No germline mutations were identified, indicating that biallelic MUTYH mutations are not a frequent underlying cause for the development of papillary carcinomas of the breast.     

Germline MUTYH gene mutations are not frequently found in unselected patients with papillary breast carcinoma

MUTYH-associated polyposis (MAP) is an autosomal recessive disease, which predisposes to polyposis and colorectal cancer. There is a trend towards an increased risk of breast cancer in MAP patients, with a remarkable proportion of papillary breast cancers. To determine whether MUTYH mutations are associated with this specific and rare type of breast cancer, 53 unselected patients with papillary breast cancer were analyzed for founder mutations in the MUTYH gene. No germline mutations were identified, indicating that biallelic MUTYH mutations are not a frequent underlying cause for the development of papillary carcinomas of the breast.