Living with a Hereditary Form of Cancer: Experiences and Needs of MEN 2 Patients and Their Families

Unlike the purely medical research done in multiple endocrine neoplasia type 2 (MEN 2) families, little work has been done on the psychosocial aspects of the disease. To assess the severely stressful influences and the consequences of that stress on the family network, a small-scale survey was carried out during a national meeting. The goal of the study was to obtain more information about the experiences and needs of MEN 2 patients and their relatives. Of the 59 respondents, 85% were satisfied with the medical information provided, 81% were satisfied with the medical knowledge of the specialist, but only 12% were satisfied with the medical knowledge of the general practitioner regarding MEN 2. Furthermore, 63% of the parents had difficulties in talking about the disease with their children. The need expressed for contact with fellow sufferers and their families is expected to lead to the establishment of an interest group for MEN 2 families

Osteopetrosis

Osteopetrosis ("marble bone disease") is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs. The overall incidence of these conditions is difficult to estimate but autosomal recessive osteopetrosis (ARO) has an incidence of 1 in 250,000 births, and autosomal dominant osteopetrosis (ADO) has an incidence of 1 in 20,000 births. Osteopetrotic conditions vary greatly in their presentation and severity, ranging from neonatal onset with life-threatening complications such as bone marrow failure (e.g. classic or "malignant" ARO), to the incidental finding of osteopetrosis on radiographs (e.g. osteopoikilosis). Classic ARO is characterised by fractures, short stature, compressive neuropathies, hypocalcaemia with attendant tetanic seizures, and life-threatening pancytopaenia. The presence of primary neurodegeneration, mental retardation, skin and immune system involvement, or renal tubular acidosis may point to rarer osteopetrosis variants, whereas onset of primarily skeletal manifestations such as fractures and osteomyelitis in late childhood or adolescence is typical of ADO. Osteopetrosis is caused by failure of osteoclast development or function and mutations in at least 10 genes have been identified as causative in humans, accounting for 70% of all cases. These conditions can be inherited as autosomal recessive, dominant or X-linked traits with the most severe forms being autosomal recessive. Diagnosis is largely based on clinical and radiographic evaluation, confirmed by gene testing where applicable, and paves the way to understanding natural history, specific treatment where available, counselling regarding recurrence risks, and prenatal diagnosis in severe forms. Treatment of osteopetrotic conditions is largely symptomatic, although haematopoietic stem cell transplantation is employed for the most severe forms associated with bone marrow failure and currently offers the best chance of longer-term survival in this group. The severe infantile forms of osteopetrosis are associated with diminished life expectancy, with most untreated children dying in the first decade as a complication of bone marrow suppression. Life expectancy in the adult onset forms is normal. It is anticipated that further understanding of the molecular pathogenesis of these conditions will reveal new targets for pharmacotherapy

Preferred and actual mode of delivery in relation to fear of childbirth

Purpose: This prospective cohort study aimed to investigate the interrelation between preferred/actual mode of delivery and pre- and postpartum fear of childbirth (FOC). Material and methods: Participants from 13 midwifery practices and four hospitals in Southwest Netherlands filled out questionnaires at 30 weeks gestation (n = 561) and two months postpartum (n = 463), including questions on preferred mode of delivery, the Wijma Delivery Expectancy/Experience Questionnaire (W-DEQ) and Hospital Anxiety Depression Scale (HADS). Results were related to obstetric data. Results: Both severe FOC (OR 7.0, p amp;lt; .001) and previous Cesarean section (CS) (OR 16.6, p amp;lt; .001) predicted preference for CS. Severe prepartum FOC also predicted actual CS. Preferring a vaginal delivery (VD) and actually having a CS predicted higher postpartum W-DEQ scores (partial r = 0.107, p amp;lt; .05). Other significant predictors for high postpartum W-DEQ scores were high prepartum W-DEQ (partial r = 0.357) and HADS anxiety scores (partial r = 0.143) and the newborn in need of medical assistance (partial r = -0.169). Conclusions: Women preferring a VD but ending up with a CS are at risk for severe FOC postpartum, while the same risk was not demonstrated for women who preferred a CS but had a VD. Prepartum FOC is strongly associated with postpartum FOC, regardless of congruence between preferred and actual mode of delivery.Funding Agencies|Koninklijke Nederlandse Organisatie voor Verloskundigen, KNOV (Dutch royal organisation of midwives) [GR/173029/3]</p

Is fear of childbirth related to the womans preferred location for giving birth? A Dutch low-risk cohort study

Background In The Netherlands, women with low-risk pregnancy are routinely given the option of home birth, providing a unique opportunity to study the relationship between fear of childbirth (FOC) and preference for childbirth location, and whether women experience higher FOC when the actual location differs from their preference. Methods In this prospective cohort study, 331 nulliparous and parous women completed a questionnaire at gestational week 30 (T1) and two months postpartum (T2). FOC was assessed using versions A (T1) and B (T2) of the Wijma Delivery Expectancy/Experience Questionnaire (W-DEQ). Results At T1, women who preferred home birth had significantly lower FOC compared with women who preferred a hospital birth (mean +/- SD W-DEQ scores: 55 +/- 19.8 and 64 +/- 18.3, respectively, P amp;lt; .01). About 28% of women who responded at T2 gave birth at home. Congruence between the preferred and actual childbirth location was not predictive of FOC assessed at T2 when adjusted for obstetric and psychological variables. In an extended analysis, we found that except for prepartum FOC, the following variables also correlated with postpartum FOC: being referred because of complications and poor neonatal condition. Conclusions Compared to women who prefer hospital birth, women who prefer home birth have lower prepartum and postpartum FOC. Giving birth at a location other than the preferred location does not appear to affect postpartum FOC. Whether giving birth at home or in the hospital, caregivers should pay extra attention to women with high FOC because they are vulnerable to postpartum FOC, especially after a complicated birth and referral.Funding Agencies|Koninklijke Nederlandse Organisatie voor Verloskundigen (KNOV; Royal Dutch organisation of midwives) [GR/173029]</p

The impact of miscarriage on women's pregnancy-specific anxiety and feelings of prenatal maternal-fetal attachment during the course of a subsequent pregnancy: an exploratory follow-up study

This study assesses the implications a miscarriage history has on women's pregnancy-specific anxiety and feelings of prenatal maternal-fetal attachment during the 1st and 3rd trimesters of a subsequent pregnancy. Thirty-five pregnant women (N = 10 with a history of miscarriage) volunteered participation completing the Pregnancy Outcome Questionnaire (POQ) 1, the Maternal Antenatal Attachment Scale (MAAS) 2 and a demographic/reproductive history questionnaire during the first trimester of pregnancy. Of these, 24 participants completed the measures again during the third trimester of pregnancy. Women with a miscarriage history reported significantly higher pregnancy-specific anxiety at trimester 1 than women with no miscarriage history; even when the effects of parity were controlled. All expectant mothers, irrespective of miscarriage history, scored similarly at trimester 1 on the MAAS scales. By the 3rd trimester, pregnancy-specific anxiety had significantly decreased for women with a miscarriage history whose mean scores on the POQ were now similar to women with no history of miscarriage. Maternal-fetal attachment had significantly risen by the 3rd trimester for all women. These findings suggest that having a miscarriage history may not have a long-lasting adverse effect on woman's psychological adaptation during the course of a subsequent pregnancy