The use of medical care and the prevalence of serious illness in an adult Prader–Willi syndrome cohort

IntroductionAdults with Prader–Willi syndrome (PWS) have an increased occurrence of several medical conditions. We report on the consequences of high morbidity rates such as prevalence rate of hospital admissions, medication use and surgery in a Dutch cohort of adults with PWS. Special attention is paid to causes and symptoms of serious illness.MethodParticipants were contacted via the Dutch Prader–Willi Parent Association and through physicians specializing in persons with ID. The persons with PWS and their main caregivers were visited at home. Information was collected through semi-structured interviews on 102 adults with PWS.ResultsThe need for medical care in the neonatal period is associated with hypotonia and feeding problems. Hospital admissions for respiratory tract infections are frequent. During childhood most hospital admissions were due to PWS syndrome specific surgery. During adolescence hospital admissions occurred for scoliosis surgery and endocrine evaluations. At adult age, hospitalization was associated with inguinal hernia surgery, diabetes mellitus, psychosis, erysipelas, water and drug intoxications. In the older group, respiratory infections were again the main reason for hospital admissions. Frequently used medications at adult age included psychotropics, laxatives, anti-diabetics and dermatologic preparations. Abnormal drinking patterns, problems with anesthesia, decreased ability to vomit, abnormal pain awareness and unpredictable fever responses were frequent and often lead to delayed diagnoses of serious conditions.DiscussionPeople with PWS are frequent users of medical-care. Reasons for hospitalization and medication use are age specific. Knowledge on the different presentation of symptoms in people with PWS is needed. In case of unexplained illness, disturbances of consciousness and behavioral changes in people with PWS, an infection should be ruled out in the first place. Information from this study may help in preventing conditions and recognizing conditions in an early stage. Adequate preventive management and treatment of PWS related morbidity, could reduce medical care use in the long term and could improve quality adjusted life years.     

The effects of video games on laparoscopic simulator skills

Background

Recently, there has been a growth in studies supporting the hypothesis that video games have positive effects on basic laparoscopic skills. This review discusses all studies directly related to these effects.

Data Sources

A search in the PubMed and EMBASE databases was performed using synonymous terms for video games and laparoscopy. All available articles concerning video games and their effects on skills on any laparoscopic simulator (box trainer, virtual reality, and animal models) were selected.

Conclusions

Video game experience has been related to higher baseline laparoscopic skills in different studies. There is currently, however, no standardized method to assess video game experience, making it difficult to compare these studies. Several controlled experiments have, nevertheless, shown that video games cannot only be used to improve laparoscopic basic skills in surgical novices, but are also used as a temporary warming-up before laparoscopic surgery.     

Large-diameter self-expanding metal stents appear to be safe and effective for malignant colonic obstruction with and without concurrent use of chemotherapy

Background  

Colonic stents are used chiefly for malignant large-bowel obstruction as a palliative measure or bridge to surgery that facilitates one-step resections. Literature on colorectal stenting demonstrates good safety and efficacy; however, a recent trial has raised concerns regarding the safety of a new large-diameter stent, especially in the setting of concurrent chemotherapy. This study evaluated our experience with colorectal stenting using mainly this stent.     

Heme and chlorophyll intake and risk of colorectal cancer in the Netherlands cohort study.

BACKGROUND: The evidence for red meat as a determinant of colorectal cancer remains equivocal, which might be explained by differences in heme content. Heme is the pro-oxidant, iron-containing porphyrin pigment of meat and its content depends on the type of meat. Chlorophyll from green vegetables might modify this association. METHODS: The Netherlands Cohort Study was initiated in 1986 when a self-administered questionnaire on risk factors for cancer was completed by 120,852 subjects ages 55 to 69 years. After 9.3 years of follow-up through the Cancer Registry, 1,535 incident colorectal cancer cases (869 men and 666 women) were available. Nineteen of the 150 items in the validated dietary questionnaire related to consumption of specific types of fresh and processed meat. Heme iron content was calculated as a type-specific percentage of the total iron content and chlorophyll content of vegetables was derived from the literature. RESULTS: Multivariate rate ratios for quintiles of heme iron intake and colon cancer were 1.00, 0.98, 1.04, 1.13, and 1.29 (P(trend) = 0.10) among men and 1.00, 1.31, 1.44, 1.18, and 1.20 (P(trend) = 0.56) among women, respectively. No consistent associations were observed for rectal cancer. Rate ratios for colon cancer increased across successive quintiles of the ratio of heme/chlorophyll among men only (1.00, 1.08, 1.01, 1.32, and 1.43; P(trend) = 0.01). No associations were observed between fresh meat and colorectal cancer. CONCLUSION: Our data suggest an elevated risk of colon cancer in men with increasing intake of heme iron and decreasing intake of chlorophyll. Further research is needed to confirm these results.     

Effects of psychotherapy on hippocampal volume in out-patients with post-traumatic stress disorder: a MRI investigation

BACKGROUND: Magnetic resonance imaging (MRI) studies have especially reported smaller hippocampal volume in patients with post-traumatic stress disorder (PTSD), most of them war or sexual abuse victims. The present study compares the hippocampal volumes of out-patients with PTSD who had low co-morbidity rates to those of trauma-exposed control subjects without PTSD, and measures hippocampal volume changes in these patients after brief eclectic psychotherapy. We hypothesized that smaller hippocampal volumes are specific to PTSD and that hippocampal volume changes after effective psychotherapy would be measurable. METHOD: Eighteen patients with PTSD and 14 traumatized control subjects were examined with MRI. In a randomized clinical trial, the PTSD patients were assigned to treatment (n = 9) or waiting-list group (n = 9). After the former received psychotherapy for 4 months, the MRI was repeated on both PTSD groups. Three temporal lobe structures were manually segmented: hippocampus, amygdala, and parahippocampal gyrus. Volumetric analysis was used to measure grey matter, white matter, and cerebrospinal fluid. RESULTS: PTSD patients had significantly smaller hippocampal volumes at baseline (total 13.8%, right 13.5%, left 14.1%) compared to the control subjects. After effective psychotherapy, however, no volume changes were found in the smaller hippocampi. CONCLUSIONS: We confirmed previous findings of smaller hippocampal volume in PTSD in a new population made up of out-patients who experienced different types of traumas, reducing co-morbidity to a minimum. Smaller hippocampal volumes did not change after effective psychotherapy, even while symptoms resolved.     

Different distribution of the genetic subtypes of the Prader�CWilli syndrome in the elderly

The Prader–Willi syndrome (PWS) is a genetic disorder caused by the absent expression of the paternal copy of maternally imprinted genes in chromosome region 15q11–13. The frequencies of different subtypes in PWS are usually given in literature as 70% deletion, 25–30% maternal uniparental disomy (mUPD) and 3–5% others (imprinting centre (IC) defects and translocations). Little is known about factors that influence the frequency of genetic subtypes in PWS. The study sample comprised 102 adults with clinically and genetically confirmed PWS, contacted through the Dutch Prader–Willi Parent Association and through physicians specialized in treating persons with intellectual disabilities. Genetic testing showed 55 persons (54%) with a paternal deletion, 44 persons (43%) with an mUPD and 3 persons (3%) with a defect of the IC. The observed distribution in our study differed from that in literature (70% deletion, 30% mUPD), which was statistically significant (z-score: P<0.05). This was mainly caused by a higher proportion of mUPD in the advanced age groups. Differences in maternal age and BMI of persons with PWS could not explain the differences in distribution across the age groups. Our study population had a much broader age range, compared with other studies, because of a predominance of elderly people (40+ years) with PWS. In other studies, these elderly persons might have been undiagnosed and/or underreported because of a lack of genetic diagnosis. The results underline both the need for correct genetic diagnosis in all persons with PWS and adjustment of the guidelines for preventive management in adulthood.     

Design characteristics of food frequency questionnaires in relation to their validity

The authors investigated the role of food frequency questionnaire (FFQ) design, including length, use of portion-size questions, and FFQ origin, in ranking subjects according to their nutrient intake. They also studied the ability of the FFQ to detect differences in energy intake between subgroups and to assess energy and protein intake. In a meta-analysis of 40 validation studies, FFQs with longer food lists (200 items) were better than shorter FFQs at ranking subjects for most nutrients; results were statistically significant for protein, energy-adjusted total fat, and energy-adjusted vitamin C. The authors found that FFQs that included standard portions had higher correlation coefficients for energy-adjusted vitamin C (0.80 vs. 0.60, p < 0.0001) and protein (0.69 vs. 0.61, p = 0.03) than FFQs with portion-size questions. However, it remained difficult from this review to analyze the effects of using portion-size questions. FFQs slightly underestimated gender differences in energy intake, although level of energy intake was underreported by 23% and level of protein intake by 17%. The authors concluded that FFQs with more items are better able to rank people according to their intake and that they are able to distinguish between subpopulations, even though they underestimated the magnitude of these differences.     

GPs’ suspicion of child abuse: how does it arise and what is the follow-up?

Background: Child abuse is widespread, occurs in all cultures and communities, remains undiscovered in 90% of cases and has serious long-term effects. Physicians generally underidentify and underreport child abuse. To understand this low reporting rate and how the suspicion of child abuse arises, we examined GPs’ experiences.Research questions: How does the suspicion of child abuse arise in GPs’ diagnostic reasoning? How do they act upon their suspicion and which barriers do they encounter in their management?Methods: Twenty-six GPs participated in four focus groups. We used purposive sampling to include GPs with different levels of experience. We performed a thematic content analysis.Results: Suspicion of child abuse arose from common triggers and a gut feeling that ‘something is wrong here’. GPs acted upon their suspicion by gathering more data, through history taking and physical examination. They often found it difficult to decide whether a child was abused, because parents, despite good intentions, may simply lack parenting skills and have different values. Clear signs of sexual abuse and physical violence were institutionally reported by GPs, whereas in less clear-cut cases they followed them up and built a supporting network of professionals around the family.Conclusions: A low child abuse reporting rate by GPs to CACRC does not mean a low detection rate. In trying to improve a child’s situation, GPs make use of patients’ trust in their doctor by involving other professionals. Awareness of the role of gut feelings in developing a suspicion may increase early detection and preventive actions.

Key points

• Physicians generally underidentify and underreport child abuse.
• Suspicion of child abuse arose from common triggers and a gut feeling that ‘something is wrong here’.
• GPs acted upon their suspicion by gathering more data, through history taking and physical examination.
• GPs found it difficult to decide whether a child was abused, because parents, despite good intentions, may lack parenting skills.