Hypogonadism in Women with Prader-Willi Syndrome—Clinical Recommendations Based on a Dutch Cohort Study, Review of the Literature and an International Expert Panel Discussion

Prader-Willi syndrome (PWS) is a rare neuroendocrine genetic syndrome. Characteristics of PWS include hyperphagia, hypotonia, and intellectual disability. Pituitary hormone deficiencies, caused by hypothalamic dysfunction, are common and hypogonadism is the most prevalent. Untreated hypogonadism can cause osteoporosis, which is already an important issue in PWS. Therefore, timely detection and treatment of hypogonadism is crucial. To increase understanding and prevent undertreatment, we (1) performed a cohort study in the Dutch PWS population, (2) thoroughly reviewed the literature on female hypogonadism in PWS and (3) provide clinical recommendations on behalf of an international expert panel. For the cohort study, we retrospectively collected results of a systematic health screening in 64 female adults with PWS, which included a medical questionnaire, medical file search, medical interview, physical examination and biochemical measurements. Our data show that hypogonadism is frequent in females with PWS (94%), but is often undiagnosed and untreated. This could be related to unfamiliarity with the syndrome, fear of behavioral changes, hygienic concerns, or drug interactions. To prevent underdiagnosis and undertreatment, we provide practical recommendations for the screening and treatment of hypogonadism in females with PWS.

Towards a Standard of Modelling Annotations in the E-Health Domain

A large number of annotation systems in e-health domain have been implemented in the literature. Several factors distinguish these systems from one another. In fact, each of these systems is based on a separate paradigm, resulting in a disorganized and unstructured vision. As part of our research, we attempted to categorize them based on the functionalities provided by each system, and we also proposed a model of annotations that integrates both the health professional and the patient in the process of annotating the medical file.

The Frequency and Causes of Unnecessary Medical Services in Urmia, Iran: Strategies and Control

Background: Unnecessary prescription, diagnosis, and medical services are increasing various health problems in the world. According to the World Health Organization (WHO), over-prescription and unnecessary services are the measures that cause significant damages rather than benefits. Objectives: The present study aimed to evaluate the perspective of Urmia medical system members regarding the frequency and causes of unnecessary medical services and their control and prevention strategies in Urmia, Iran. Methods: This descriptive-analytical, cross-sectional research was performed on 102 specialist physicians selected from the Urmia Medical Association, and the selected individuals participated in the survey online. Outcome measures included the percentage of unnecessary medical care and common causes of overtreatment. Data were collected using Johns Hopkins University Unnecessary medical services checklist. Data analysis was performed in SPSS version 22 using descriptive statistics (frequency and mean) and chi-square. Results: In total, 41% of the participants (n = 43) were family physicians, and 59% (n = 59) were specialists of other medical fields. In terms of gender, 53% were male, and the others were female. The main causes of unnecessary medical services at a national level included pressure from patients (66.7%; n = 68), fear of medical malpractice (54.9%; n = 56), pressure from colleagues (23.5%; n = 24), and achieving a high rank in a performance appraisal (40.2%; n = 41). According to the participants, the development of more guidelines and instructions (47.1%; n = 48) and training residents on the appropriate use of diagnostic criteria (50%; n = 51) could be effective approaches to preventing unnecessary medical services. In addition, significant differences were observed between the perspective of the family physicians and the specialists in terms of the fear of malpractice (P = 0.002), lack of medical history (P = 0.17), pressure from patients (P = 0.25), training of residents on the use of diagnostic criteria (P = 0.001), and easier access to medical files (P = 0.001). Conclusions: From the physicians’ perspective, overtreatment is highly common in Iran. In order to solve this problem, efforts should be dedicated to areas such as medical file availability, diminishing the fear of malpractice, and more training of residents. Moreover, it is recommended that patients’ awareness be raised regarding the damages caused by unnecessary prescriptions so that they would not request frequent visits.

Provinciale responsverschillen in het Vlaamse Bevolkingsonderzoek Dikkedarmkanker: inzichten uit gemeentelijke socio-demografische en gezondheidsgerelateerde kenmerken

Municipal characteristics associated with response rate to organised colorectal cancer screening in Flanders Introduction In Flanders (Belgium), the response rate to organised colorectal cancer (CRC) screening is still suboptimal (~ 50%). We studied the characteristics of municipalities in the Flemish provinces with the highest and lowest response rates to explore factors that might be associated with the response rate to organised CRC screening. Methods The response rates of municipalities in 5 Flemish provinces and the characteristics of municipalities in the provinces with the highest and lowest response rates were compared to the average measures of Flanders (data 2017) using an unpaired two-sample Wilcoxon test. Results The municipal response rates in Limburg and Antwerp were significantly higher, and those in West Flanders and Flemish Brabant significantly lower compared to Flanders. Further analyses of Limburg (highest response rate) and Flemish Brabant (lowest response rate) suggested that municipalities with higher response rates had more men and people aged 60-64 in the target population, more jobseekers and more people who contacted GPs/specialists frequently, but fewer people aged 70-74 in the target population and with a lower average income compared to Flanders. In contrast, municipalities with lower response rates had fewer men in the target population, fewer people having a partner, fewer jobseekers and fewer people having a global medical file, but more people with a non-Dutch or non-Belgian nationality and a higher average income (p-values < 0.01). Conclusion This exploratory study identifies certain demographic, socioeconomic and health‑related municipal characteristics that may be related to the response rate to CRC screening in Flanders. These findings can guide future research and investigations with the aim to improve the response rate to CRC screening.

Pengaruh Pemberian Kode Warna Wilayah Pada Folder Terhadap Ketepatan Penyimpanan Berkas Rekam Medis Di Puskesmas Wadaslintang 1

A Medical records are files containing notes and documents regarding the patient's identity, examination, treatment, actions and other services that have been provided to patients. So that a medical file is strictly protected so that it is not damaged or lost.Based on observations, it was found that there were several files of medical records that were interchanged or not in the normal filling rack. Medical record files can be exchanged due to the large number of regional shelf columns so that alternatives and innovations are needed to increase the accuracy of returning and retrieving medical record files correctly.Troubleshooting efforts are being made, namely by providing a regional color code in the medical record file folder so that errors in taking and returning medical record files can be minimized.Based on the results of observations made by the author, it was found that there was an effect before and after color coding the region in the medical record file folder.

Thyroid Function in Adults with Prader–Willi Syndrome; a Cohort Study and Literature Review

Prader–Willi syndrome (PWS) is a complex genetic syndrome combining hypotonia, hyperphagia, a PWS-specific neurocognitive phenotype, and pituitary hormone deficiencies, including hypothyroidism. The low muscle mass associated with PWS causes a low energy expenditure due to a low basal metabolic rate. Combined with increased energy intake due to hyperphagia, this results in a high risk of obesity and associated cardiovascular disease. To reduce the high mortality in PWS (3% yearly), exercise is extremely important. As hypothyroidism can impair exercise tolerance, early detection is crucial. We performed a literature search for articles on hypothyroidism in PWS, measured thyroid hormone (TH) levels in 122 adults with PWS, and performed a medical file search for medication use. Hypothyroidism (low free thyroxin) was present in 17%, and often central in origin (80%). Triiodothyronine levels were lower in patients who used psychotropic drugs, while other TH levels were similar. One in six patients in our cohort of adults with PWS had hypothyroidism, which is more than in non-PWS adults (3%). We recommend yearly screening of free thyroxin and thyroid-stimulating hormone levels to avoid the negative effects of untreated hypothyroidism on basal metabolic rate, body mass index, and cardiovascular risk. Additionally, we recommend measuring TH concentrations 3–4 months after the start of growth hormone treatment.

The role of comprehensive international electronic medical file in improving the quality of medical services and achieving the satisfaction of stakeholders: An exploratory study in Jeddah, Saudi Arabia

Objective: The current study investigates the possible impact of creating a comprehensive international electronic medical file that is part of a database which can be used in various areas to achieve the highest levels of satisfaction for patients and official bodies and enhance the quality of medical services at hospitals as well. One of the key purposes of this e-file is achieving the readiness and confidentiality of data so that it can be shared among hospitals whether inside the Kingdom of Saudi Arabia or even abroad. In addition, the medical e-file may contribute to reducing the costs of treatment, monitoring the performance of doctors and minimising medical errors. Moreover, the e-file may be used for even other purposes such as security or financial reasons.Methods: The study employed the quantitative research design where 171 questionnaires were distributed to patients, managers and staff in 19 small private hospitals in Jeddah city. The questionnaire 44 questions were designed after conducting a small pilot study on 15 participants. The response rate was about 82.5% in terms of the study questionnaire as only 141 questionnaires were collected. 84 male and 57 female participants took part in the study.Results: The study shows that there is a statistically significant correlation between the use of the international electronic medical file and the enhancement of the quality level of services provided at hospitals, the electronic rehabilitation, training, integrity and awareness of medical staff, and the productivity of hospital workers in line with the Kingdom’s 2030 vision. Moreover, there is a statistically significant correlation between the use of the comprehensive international electronic medical file and raising the level of patient satisfaction by working to protect their medical and financial information and speeding up the process of providing it whenever needed, whether inside the KSA or abroad, as well as reducing the costs of treatment locally and internationally and raising the rates of patient awareness of their medical rights. The results also reveal that using the comprehensive international electronic medical file helps to link patients’ data to all concerned authorities, which leads to enabling them to monitor the performance of hospitals and their staff, monitor the performance of doctors, reduce medical errors, and follow up on patients’ cases and rights to the fullest extent.Conclusions: The study recommends the necessity of selecting and training medical personnel in a professional manner, including those working in the field of the database, and the necessity of maintaining the confidentiality of personal information.

Referral to and enrolment in cardiac rehabilitation after open-heart surgery in the Netherlands

Aim Although referral to phase 2 cardiac rehabilitation (CR) following open-heart surgery is recommended in professional guidelines, according to the literature, participation rates are suboptimal. This study investigates the referral and enrolment rates, as well as determinants for these rates, for phase 2 CR following open-heart surgery via sternotomy. Methods A cross-sectional survey study was conducted among patients who underwent open-heart surgery via sternotomy in a university hospital. Data on referral and enrolment rates and possible factors associated with these rates (age, sex, type of surgery, educational level, living status, employment, income, ethnicity) were collected by a questionnaire or from the patient’s medical file. Univariate logistic regression analysis (odds ratio) was used to study associations of patient characteristics with referral and enrolment rates. Results Of the 717 eligible patients, 364 (51%) completed the questionnaire. Their median age was 68 years (interquartile range 61–74) and 82 (23%) were female. Rates for referral to and enrolment in phase 2 CR were 307 (84%) and 315 (87%), respectively. Female sex and older age were independently associated with both non-referral and non-enrolment. Additional factors for non-enrolment were surgery type (coronary artery bypass grafting with valve surgery and miscellaneous types of relatively rare surgery), living alone and below-average income. Conclusion Phase 2 CR referral and enrolment rates for patients following open-heart surgery were well over 80%, suggesting adequate adherence to professional guidelines. During consultation, physicians and specialised nurses should pay more attention to certain patient groups (at risk of non-enrolment females and elderly). In addition, in-depth qualitative research to identify reasons for non-referral and/or non-enrolment is needed.

Transition From Child to Adult Health Care for Patients With Lysosomal Storage Diseases in France. Current Status and Priorities: The TENALYS Study, a Patient Perspective Survey.

Background Transition from childhood to adulthood (TCA) is usually difficult in rare, progressive and multisystemic diseases. New treatments and modalities of care for many lysosomal diseases (LD) can increase life expectancy, and a successful TCA can help patient who reach adulthood to avoid disruption to health care. In France, some TCA initiatives have been taken by referral centers but in view of the problems encountered by Vaincre les Maladies Lysosomales (VML), the LD patient association, they seem to be insufficient. The aim of this study is to determine the current state of the TCA process and to identify actions to improve it through interviews with patient families and physicians in LD referral centers.The study is based upon an observational, non-interventional, cross-sectional, national survey which used two anonymous questionnaires. These questionnaires, developed by a scientific committee including representatives from VML and medical specialists in LD, were sent to patients who were receiving care in pediatric departments at age 15 years or older. Questionnaires were also sent to their referal pediatricians.ResultsFifty-four patients were included. Forty-two questionnaires were completed by patients and their corresponding physicians and 12 were completed by physicians only. The majority of the patients (80%) were informed that transferal to adult healthcare would occur, but 52 % were informed after their eighteenth birthday. Forty-eight percent indicated that they were informed that a TCA coordinator would be appointed; for 39% the time frame for the transfer was communicated, and 31% were informed of the composition of the adult medical team. Among the actions that patients rated as “important/very important”, and considered to be a priority in their comments, the most frequently cited were the provision of explanatory documents on the TCA (94%), the transmission of the medical file from the pediatric sector to the adult sector (94%) and a joint consultation with both pediatrician and adult unit physician (91%). Physicians were in agreement concerning the primary importance of the last two actions.ConclusionThis study provides a basis for the deployment, on the national level, of transition programs which include specific actions that patients view as priorities.

Myocardial infarctions, subtypes and coronary atherosclerosis in SLE: a case–control study

ObjectivePatients with SLE have increased risk of myocardial infarction (MI). Few studies have investigated the characteristics of SLE-related MIs. We compared characteristics of and risk factors for MI between SLE patients with MI (MI-SLE), MI patients without SLE (MI-non-SLE) and SLE patients without MI (non-MI-SLE) to understand underlying mechanisms.MethodsWe identified patients with a first-time MI in the Karolinska SLE cohort. These patients were individually matched for age and gender with MI-non-SLE and non-MI-SLE controls in a ratio of 1:1:1. Retrospective medical file review was performed. Paired statistics were used as appropriate.ResultsThirty-four MI-SLE patients (88% females) with a median age of 61 years were included. These patients had increased number of coronary arteries involved (p=0.04), and ≥50% coronary atherosclerosis/occlusion was numerically more common compared with MI-non-SLE controls (88% vs 66%; p=0.07). The left anterior descending artery was most commonly involved (73% vs 59%; p=0.11) and decreased (<50%) left ventricular ejection fraction occurred with similar frequency in MI-SLE and MI-non-SLE patients (45% vs 36%; p=0.79). Cardiovascular disease (44%, 5.9%, 12%; p<0.001) and coronary artery disease (32%, 2.9%, 0%; p<0.001), excluding MI, preceded MI/inclusion more commonly in MI-SLE than in MI-non-SLE and non-MI-SLE patients, respectively. MI-SLE patients had lower plasma albumin levels than non-MI-SLE patients (35 (29–37) vs 40 (37–42) g/L; p=0.002).ConclusionIn the great majority of cases, MIs in SLE are associated with coronary atherosclerosis. Furthermore, MIs in SLE are commonly preceded by symptomatic vascular disease, calling for attentive surveillance of cardiovascular disease and its risk factors and early atheroprotective treatment.