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.

24-h Potassium Excretion Is Associated with Components of the Metabolic Syndrome: Results from a National Survey Based on Urine Collection in Adults

A balanced diet and weight loss are the first lines of treatment for the prevention of metabolic syndrome (MS). Dietary strategies may include changing the composition of macronutrients, adopting a particular dietary pattern as a Mediterranean diet. However, the role of micronutrients, particularly potassium, in the propensity for or treatment of the syndrome is unclear. The study aimed to examine the relationship between the presence of the MS and its risk factors and the 24-h potassium excretion as the most valid proxy for dietary intake. The analyses were performed as part of the national survey estimating sodium and other electrolytes excretion conducted between 2014–2016 in Israel. The survey included urine collection, anthropometric and blood pressure measurements, and a comprehensive medical questionnaire that included details on the intake of medications that may affect electrolyte secretion. A model was constructed to evaluate the probability for the MS. MS score and its probability were examined in relation to potassium excretion at different levels and in stratification to sex. A total of 581 participants were included in the analysis. The mean potassium excretion was 2818 ± 1417 mg. The prevalence of the MS was 18.5% among participants with above-average potassium excretion and about 10.4% among participants with lower-than-average excretion (p = 0.007). A dose–response relationship was observed between MS score and potassium: the higher the score, the lower was the excretion of potassium. Potassium excretion, rather than sodium excretion, correlated with all components of the MS and even predicted MS independently from other variables. This is the first study based on a national survey showing that potassium consumption, as represented by daily excretion in urine, is inversely related to the presence of MS components after adjustment for several leading variables and careful exclusion of participants taking drugs which may interfere in potassium excretion.

The usefulness of the RSTC medical questionnaire in pre-participation health risk assessment of recreational scuba divers in Hong Kong

Introduction: The current practice in Hong Kong is to have potential recreational divers complete a Recreational Scuba Training Council self-declared medical statement (RSTC form) prior to participation in diving. There are no reports in the literature on the usefulness of the Chinese version of the form. Methods: The Professional Association of Diving Instructors (PADI) RSTC form (Chinese version) was completed by 117 research participants who were then individually interviewed (without examination) to establish whether relevant information was not captured by the form. Any discrepancies or problems identified were recorded for further analysis. Results: Among participants, 15.4% expressed difficulty in completing the RSTC form. Less than one-third (28.2%) replied ‘all negative’ to the questions. Some health conditions that could impose diving risks were not elicited by the questionnaire alone. Nevertheless, there was good sensitivity, specificity, positive predictive value and negative predictive value with the exception of a few questions. However, significant discrepancies were identified when comparing the English and Chinese versions. There was also uncertainty with aspects of implementation, including attitudes of the user and provider, reliability of self-declaration answers and the handling of completed questionnaires. Conclusions: Health screening with a questionnaire for recreational divers remains practical and acceptable. Full revision of the RSTC form in Chinese is recommended in view of problems with the construct validity and translation. People should be informed about the non-prescriptive approach of health assessment for recreational divers. Further research on the implementation of the form may help to improve the screening strategy in the future.

Pac-12 CARE-Affiliated Program: structure, methods and initial results

Sport-related concussion has garnered increasing scientific attention and research over the last decade. Collegiate student-athletes represent an important cohort in this field. As such, the Pac-12 CARE-Affiliated Program (CAP) was formed in 2017 as a regional hub of the Concussion Assessment, Research and Education (CARE) consortium. CAP is multisite, prospective, longitudinal study that aims to improve student-athlete health by identifying factors associated with concussion incidence and recovery and using this knowledge to inform best clinical practices and policy decisions. CAP employed a staggered rollout across the Pac-12, with the first four institutions enrolling in fall 2018. After receiving institutional review board (IRB) approval, these institutions began consenting student-athletes to share clinical concussion and baseline data for research purposes. Athletes completed baseline testing that included a medical questionnaire, concussion history and a battery for clinical concussion assessments. Concussed student-athletes were given the same battery of assessments in addition to full injury and return to play reports. Clinicians at each university worked with a data coordinator to ensure appropriate reporting, and the Pac-12 Concussion Coordinating Unit at the University of Colorado Boulder provided oversight for quality control of the data study wide. During year 1, CAP consented 2181 student-athletes and tracked 140 concussions. All research was conducted with the appropriate IRB approval across the participating Pac-12 institutions. Data security and dissemination are managed by the Presagia Sports Athlete Electronic Health Record software (Montreal, Quebec, Canada) and QuesGen Systems (San Francisco, California, USA).

Close Association between Awareness of Teeth-Alignment Disorder and Systemic Disorders in Late Adolescence

Background: Oral diseases are associated with various systemic disorders. Our previous research revealed new insights into the close relationship between occlusal disorder (functional disorder) and systemic disorders (allergic rhinitis, asthma, and arrhythmia) in late adolescence. Here, we investigated whether there was an association between the awareness of teeth-alignment disorder (morphological disorder) and common systemic disorders. Subjects and Methods: We retrospectively reviewed the data of the mandatory medical questionnaire that is required for the freshman medical checkup in Japan. We collected the data of all students who completed the questionnaire between April 2017 and April 2019. The data were analyzed using the χ2 test, and a multivariate analysis was performed with a binomial logistic regression model. Results: The subjects were 8903 students aged 17–19 who had no awareness of occlusal disorder. The rate of awareness of teeth-alignment disorder was 20.43% (1819 of 8903 eligible subjects), and the aware students had significantly greater rates of gum bleeding (p < 0.001), pollinosis (n = 0.007), and atopic dermatitis (n = 0.042). The multivariate analysis revealed significant rates of gum bleeding (odds ratio (OR) 1.540, 95% confidence interval (CI): 1.386–1.711, p < 0.001), pollinosis (OR 1.197, 95% CI: 1.040–1.378, p = 0.012), and female gender (OR 1.141, 95% CI: 1.002–1.299, p = 0.046) among the students with awareness of teeth-alignment disorder. Conclusion: We identified close associations between the awareness of teeth-alignment disorder and both gum bleeding and pollinosis in a late-adolescent population. The systemic disorders that are targeted by teeth-alignment disorder were found to be different from those targeted by occlusal disorder.

Preliminary development of a deep learning-based automated primary headache diagnosis model using Japanese natural language processing of medical questionnaire

Background: Primary headaches are widespread and costly public health problems. However, there are insufficient medical resources for their treatment in Japan due to two reasons. First, the numbers of headache specialists and clinics remain insufficient. Second, neurologists and neurosurgeons mainly treat headaches in Japan. However, they mainly work as general stroke neurologists, so they cannot focus on primary headache treatment. To solve these problems, we preliminarily developed a deep learning (DL)-based automated diagnosis model from patients’ Japanese unstructured sentences in the medical questionnaire using a DL framework. We hypothesized that the model would reduce the time and burden on both doctors and patients and improve their quality of life. Methods: We retrospectively investigated our primary headache database and developed a diagnosis model using the DL framework (Prediction One, Sony Network Communications Inc., Japan). We used age, sex, date, and embedding layer made by the medical questionnaire’s natural language processing (NLP). Results: Eight hundred and forty-eight primary headache patients (495 women and 353 men) are included. The median (interquartile range) age was 59 (40–74). Migraine accounted for 46%, tension-type headache for 47%, trigeminal autonomic cephalalgias for 5%, and other primary headache disorders for 2%. The accuracy, mean precision, mean recall, and mean F value of the developed diagnosis model were 0.7759, 0.8537, 0.6086, and 0.6353, which were satisfactory. Conclusion: The DL-based diagnosis model for primary headaches using the raw medical questionnaire’s Japanese NLP would be useful in performing efficient medical practice after ruling out the secondary headaches.

The Prevalence of Undiagnosed Age-Related Sight-Threatening Diseases in Self-Proclaimed Healthy Individuals

Background. Age-related conditions such as glaucoma, age-related macular degeneration, diabetic retinopathy, and cataract have become the major cause of visual impairment and blindness in high-income countries. The aim of the current study is to investigate the prevalence of these eye diseases in a cohort of self-proclaimed healthy elderly and thus get a rough estimation of the prevalence of undiagnosed age-related eye conditions in the Belgian population. Methods. Individuals aged 55 and older without ophthalmological complaints were asked to fill in a general medical questionnaire and underwent an ophthalmological examination, which included a biomicroscopic examination, intraocular pressure measurement, axial length measurement, and acquisition of fundus pictures and optical coherence tomography scans. Information regarding follow-up was collected in those who received the advice of referral to an ophthalmologist or the advice to have more frequent follow-up visits, based on their study evaluation. Results. The cohort included 102 people and comprised 46% men (median age 70 years, range 57–85 years). Referral for additional examinations was made in 26 participants (25%). The advice to have more regular follow-up ophthalmologist visits was given to nine additional participants (9%). No significant correlations between baseline characteristics and the need for referral could be identified. Follow-up information was available for 25 out of 26 referred volunteers. Out of these, four underwent a therapeutic intervention based on study referral, up until 18 months after study participation. All four interventions took place in the age group 65–74 years. Conclusions. This study shows that, even in an elderly population with self-proclaimed healthy eyes and good general health, a significant proportion of subjects showed ocular findings that need regular follow-up and/or intervention. The frequency of prior ophthalmological examinations does not seem to be relevant to this proportion, meaning that everyone above 55 years old needs a routine ophthalmological evaluation.