scholarly journals Missed Diagnoses and Health Problems in Adults With Prader-Willi Syndrome: Recommendations for Screening and Treatment

2020 ◽  
Vol 105 (12) ◽  
pp. e4671-e4687
Author(s):  
Karlijn Pellikaan ◽  
Anna G W Rosenberg ◽  
Anja A Kattentidt-Mouravieva ◽  
Rogier Kersseboom ◽  
Anja G Bos-Roubos ◽  
...  
Keyword(s):  
Medical Center ◽  
Patient Characteristics ◽  
Health Problems ◽  
Pituitary Hormone ◽  
Prader Willi Syndrome ◽  
Living Situation ◽  
Systematic Screening ◽  
Vulnerable Patient ◽  
Physical Examinations ◽  
Vulnerable Patient Group

Abstract Context Prader-Willi syndrome (PWS) is a complex hypothalamic disorder, combining hyperphagia, hypotonia, intellectual disability, and pituitary hormone deficiencies. Annual mortality of patients with PWS is high (3%). In half of the patients, the cause of death is obesity related and/or of cardiopulmonary origin. Health problems leading to this increased mortality often remain undetected due to the complexity and rareness of the syndrome. Objective To assess the prevalence of health problems in adults with PWS retrospectively. Patients, Design, and Setting We systematically screened 115 PWS adults for undiagnosed health problems. All patients visited the multidisciplinary outpatient clinic for rare endocrine syndromes at the Erasmus University Medical Center, Rotterdam, Netherlands. We collected the results of medical questionnaires, interviews, physical examinations, biochemical measurements, polygraphy, polysomnography, and radiology. Main outcome measures Presence or absence of endocrine and nonendocrine comorbidities in relation to living situation, body mass index, genotype, and demographic factors. Results Seventy patients (61%) had undiagnosed health problems, while 1 in every 4 patients had multiple undiagnosed health problems simultaneously. All males and 93% of females had hypogonadism, 74% had scoliosis, 18% had hypertension, 19% had hypercholesterolemia, 17% had type 2 diabetes mellitus, and 17% had hypothyroidism. Unfavorable lifestyles were common: 22% exercised too little (according to PWS criteria) and 37% did not see a dietitian. Conclusions Systematic screening revealed many undiagnosed health problems in PWS adults. Based on patient characteristics, we provide an algorithm for diagnostics and treatment, with the aim to prevent early complications and reduce mortality in this vulnerable patient group.

scholarly journals Effects of Childhood Multidisciplinary Care and Growth Hormone Treatment on Health Problems in Adults with Prader-Willi Syndrome

2021 ◽  
Vol 10 (15) ◽  
pp. 3250
Author(s):  
Karlijn Pellikaan ◽  
Anna G. W. Rosenberg ◽  
Kirsten Davidse ◽  
Anja A. Kattentidt-Mouravieva ◽  
Rogier Kersseboom ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Treatment ◽  
Multidisciplinary Care ◽  
Hormone Treatment ◽  
Health Problems ◽  
Pituitary Hormone ◽  
Childhood And Adolescence ◽  
Prader Willi Syndrome ◽  
Adult Age ◽  
Beneficial Effects

Prader-Willi syndrome (PWS) is a complex hypothalamic disorder. Features of PWS include hyperphagia, hypotonia, intellectual disability, and pituitary hormone deficiencies. The combination of growth hormone treatment and multidisciplinary care (GHMDc) has greatly improved the health of children with PWS. Little is known about the effects of childhood GHMDc on health outcomes in adulthood. We retrospectively collected clinical data of 109 adults with PWS. Thirty-nine had received GHMDc during childhood and adolescence (GHMDc+ group) and sixty-three had never received growth hormone treatment (GHt) nor multidisciplinary care (GHMDc− group). Our systematic screening revealed fewer undetected health problems in the GHMDc+ group (10%) than in the GHMDc− group (84%). All health problems revealed in the GHMDc+ group had developed between the last visit to the paediatric and the first visit to the adult clinic and/or did not require treatment. Mean BMI and the prevalence of diabetes mellitus type 2 were significantly lower in the GHMDc+ group compared to the GHMDc− group. As all patients who received GHt were treated in a multidisciplinary setting, it is unknown which effects are the result of GHt and which are the result of multidisciplinary care. However, our data clearly show that the combination of both has beneficial effects. Therefore, we recommend continuing GHMDc after patients with PWS have reached adult age.

scholarly journals MON-284 Systematic Screening Reveals Large Number of Undiagnosed and Untreated Cardiovascular Risk Factors in Adults with Prader-Willi Syndrome

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Karlijn Pellikaan ◽  
Anna Gerarda Wilhelmina Rosenberg ◽  
Janneke Baan ◽  
Kirsten Davidse ◽  
Aart Jan Van der Lely ◽  
...  
Keyword(s):  
Risk Factors ◽  
Cardiovascular Risk ◽  
Sleep Apnea ◽  
Energy Expenditure ◽  
Cardiovascular Risk Factors ◽  
Health Problems ◽  
Low Energy ◽  
Exercise Intolerance ◽  
Prader Willi Syndrome ◽  
Systematic Screening

Abstract Introduction: Prader-Willi syndrome (PWS) is a complex hypothalamic disorder, combining hypotonia, intellectual disability (ID), pituitary hormone deficiencies and hyperphagia. In PWS, up to 3% of patients die every year. In half of the patients, the cause of death is obesity related and / or of cardiovascular (CV) origin. Obesity is caused by hyperphagia combined with a low energy expenditure. Untreated hormone deficiencies like hypogonadism and hypothyroidism can cause low muscle mass and low basal rest metabolism (BRM) leading to this low energy expenditure. Patients with PWS should exercise one hour daily to compensate for their low BRM. However, hormone deficiencies usually cause fatigue, leading to exercise intolerance. Musculoskeletal and / or behavioral problems can also cause reduced physical activity. The subsequent sedentary lifestyle can induce CV risk factors like hypertension, hypercholesterolemia and diabetes mellitus (DM). Another risk factor often present in PWS is sleep apnea, which can be central (CSA), obstructive (OSA) or both. Both CSA and OSA can lead to pulmonary hypertension and a further increase in obesity. The above mentioned health problems often remain unnoticed and untreated, which is partly due to the behavioral phenotype of PWS (patients seldomly report pain and hardly ever complain about physical problems). However, if left untreated, these risk factors can cause CV complications leading to hospital admission or even death. To reveal yet undiagnosed health problems, we performed a systematic health screening among adults with PWS. Methods: We systematically screened 115 adults with PWS (mean age 31.4 ± 12.1 y, mean BMI 31.8 ± 9,5 kg/m2) for the presence of undiagnosed health problems and cardiovascular risk factors. Based on a medical questionnaire, medical file search, extensive interview, thorough physical examination and biochemical measurements we made an overview of the undiagnosed health problems in adults with PWS. If possible, we performed polygraphy to test for sleep apnea. Results: Undiagnosed health problems (hypertension, DM, hypercholesterolemia, sleep apnea, hypothyroidism and hypogonadism) were present in 50% of the patients. 10% had multiple undiagnosed health problems simultaneously. All males and 94% of females had hypogonadism and 15% had hypothyroidism. Hypertension and / or hypercholesterolemia were present in 20% and DM was present in 16%. One third of patients was not on a diet and 22% exercised less than 30 minutes a day. Sleep apnea was present in 17 of 26 patients tested. Conclusion: We detected a striking number of undiagnosed health problems among adults with PWS which, if left untreated, can pose a serious health threat. Systematic screening is needed to detect these problems in an early phase. This will prevent burdensome and expensive complications and might even reduce mortality in this vulnerable patient population.

Multi-Disciplinary Skull Base Conference and its Effects on Patient Management

2021 ◽  
pp. 000348942110212
Author(s):  
Nathan Kemper ◽  
Scott B. Shapiro ◽  
Allie Mains ◽  
Noga Lipschitz ◽  
Joseph Breen ◽  
...  
Keyword(s):  
Skull Base ◽  
Medical Center ◽  
Academic Medical Center ◽  
Significant Proportion ◽  
Internal Auditory Canal ◽  
Patient Characteristics ◽  
Management Plan ◽  
Case Review ◽  
Retrospective Case ◽  
Lateral Skull Base

Objective: Examine the effects of a multi-disciplinary skull base conference (MDSBC) on the management of patients seen for skull base pathology in a neurotology clinic. Methods: Retrospective case review of patients who were seen in a neurotology clinic at a tertiary academic medical center for pathology of the lateral skull base and were discussed at an MDSBC between July 2019 and February 2020. Patient characteristics, nature of the skull base pathology, and pre- and post-MDSBC plan of care was categorized. Results: A total of 82 patients with pathology of the lateral skull base were discussed at a MDSBC during an 8-month study period. About 54 (65.9%) had a mass in the internal auditory canal and/or cerebellopontine angle while 28 (34.1%) had other pathology of the lateral skull base. Forty-nine (59.8%) were new patients and 33 (40.2%) were established. The management plan changed in 11 (13.4%, 7.4-22.6 95% CI) patients as a result of the skull base conference discussion. The planned management changed from some form of treatment to observation in 4 patients, and changed from observation to some form of treatment in 4 patients. For 3 patients who underwent surgery, the planned approach was altered. Conclusions: For a significant proportion of patients with pathology of the lateral skull base, the management plan changed as a result of discussion at an MDSBC. Although participants of a MDSBC would agree of its importance, it is unclear how an MDSBC affects patient outcomes.

Impact of rapid infliximab infusions on access at a large academic tertiary medical center

2021 ◽  
Author(s):  
Antoinette Pusateri ◽  
Ashley Hatcher ◽  
Nisha Patel ◽  
Joy Lehman ◽  
Alice Hinton ◽  
...  
Keyword(s):  
Medical Center ◽  
Private Insurance ◽  
Clinical Information ◽  
Patient Characteristics ◽  
Infusion Time ◽  
Rheumatologic Disease ◽  
Future Directions ◽  
Patient Surveys ◽  
Inflammatory Bowel ◽  
To Receive

Abstract Purpose Infliximab promotes remission in patients with inflammatory bowel disease (IBD) and rheumatologic disease (RD). Rapid infliximab infusions (RI) reduce infusion time from 2 hours to 1 hour and can enhance access to care, as defined by capacity, safety, and patient characteristics. Our hypothesis for the study described here was that use of RI can enhance access for patients. Methods Data on all patients receiving infliximab for IBD or RD at our outpatient infusion center from February 2016 to August 2017 were retrospectively analyzed. Demographic and clinical information were collected. Results Of 348 patients who received infliximab, 205 had IBD and 143 had RD. In terms of capacity, 40% of patients received RI, resulting in a 16.1% decrease in average daily infusion time and a 9.8% increase in average daily available scheduled infusion chair time (P = 0.720). In terms of safety, 4 patients switched back to standard infusions after RI, after 3 specifically had reactions to RI. In terms of patient characteristics, more patients with RD versus IBD received RI (P = 0.020). Among the patients with RD, a lower proportion receiving RI were female (P = 0.043). For the patients with IBD, a higher proportion receiving RI were white (P = 0.048). Among both patients with RD and patients with IBD, a higher proportion receiving RI had private insurance (P = 0.016 and P = 0.018, respectively). Conclusion RI were safe and increased available chair time. Females with RD, patients of non-White race with IBD, and patients with public insurance were less likely to receive RI. Future directions include patient surveys and evaluation of implicit bias against patient factors that may impact access to RI.

From Medical Student to Medical Resident

2017 ◽  
pp. 145-169 ◽  
Author(s):  
Warren G. McDonald ◽  
Matt Martin ◽  
Lenard D. Salzberg
Keyword(s):  
Mental Health ◽  
At Risk ◽  
Mental Health Problems ◽  
Medical Profession ◽  
Health Problems ◽  
Medical Residents ◽  
First Year ◽  
Practical Training ◽  
Systematic Screening ◽  
Health Distress

The transition from medical school to board-certified medical practice includes a period of intense, practical training known as medical residency. Medical residents are at risk for greater mental health distress than the general population. Interns, which are first year residents, are most at risk for, at worst, depression and suicidal ideation, and, at best, negative outlooks on the medical profession. Risk factors include role transition, decreased sleep, relocation, isolation, stigma toward mental health problems and treatment, and health care industry changes. Untreated mental health problems can lead to burnout later during a physician's career. Residents thrive on social and organisational support which can include systematic screening and treatment of mental health problems. Although research regarding best practices for addressing mental health problems during residency is limited, we offer four core strategies for preventing and addressing mental health problems in medical residents: education, screening, treatment, and support.

Blunt chest trauma in the elderly: an expert practice review

2019 ◽  
Vol 37 (2) ◽  
pp. 73-78
Author(s):  
Fraser Birse ◽  
Helen Williams ◽  
David Shipway ◽  
Edward Carlton
Keyword(s):  
Chest Trauma ◽  
The Elderly ◽  
Evidence Base ◽  
Spinal Fracture ◽  
Thoracic Injury ◽  
Common Mechanism ◽  
Vulnerable Patient ◽  
Practice Review ◽  
Vulnerable Patient Group ◽  
Expert Practice

Trauma in the elderly (>65 years) is an increasingly common presentation to the ED. A fall from standing height is the most common mechanism after which such patients present, and rib fracture is the most common non-spinal fracture. Thoracic injury in patients aged over 65 is associated with significant morbidity and mortality. There are currently no universally applied guidelines for assessment, investigation and management of such patients. In this expert practice review, we discuss the evidence base and options for clinical management in this vulnerable patient group.

scholarly journals Food and Non-Food-Related Behavior across Settings in Children with Prader–Willi Syndrome

Genes ◽  
2020 ◽  
Vol 11 (2) ◽  
pp. 204 ◽  
Author(s):  
Marie G. Gantz ◽  
Sara M. Andrews ◽  
Anne C. Wheeler
Keyword(s):  
Behavior Problem ◽  
Global Assessment ◽  
College Education ◽  
Patient Characteristics ◽  
Daily Activities ◽  
Prader Willi Syndrome ◽  
Compulsive Behavior ◽  
School Settings ◽  
Teacher Reports ◽  
Home And School

This study sought to describe food- and non-food-related behaviors of children aged 3 to 18 years with Prader–Willi syndrome (PWS) in home and school settings, as assessed by 86 parents and 63 teachers using 7 subscales of the Global Assessment of Individual’s Behavior (GAIB). General Behavior Problem, Non-Food-Related Behavior Problem, and Non-Food-Related Obsessive Speech and Compulsive Behavior (OS/CB) scores did not differ significantly between parent and teacher reports. Food-Related Behavior Problem scores were higher in parent versus teacher reports when the mother had less than a college education (difference of 13.6 points, 95% Confidence Interval (CI) 5.1 to 22). Parents assigned higher Food-Related OS/CB scores than teachers (difference of 5.7 points, 95% CI 2.4 to 9.0). Although teachers reported fewer Food-Related OS/CB, they scored overall OS/CB higher for interfering with daily activities compared with parents (difference of 0.9 points, 95% CI 0.4 to 1.4). Understanding how behaviors manifest in home and school settings, and how they vary with socio-demographic and patient characteristics can help inform strategies to reduce behavior problems and improve outcomes.

scholarly journals Demographic Factors Associated with Anterior Tibial Tendon Pathology

2019 ◽  
Vol 4 (4) ◽  
pp. 2473011419S0027
Author(s):  
Matt Levitsky ◽  
Justin Greisberg ◽  
J. Turner Vosseller
Keyword(s):  
Tibialis Anterior ◽  
Specific Activity ◽  
Medical Center ◽  
Academic Medical Center ◽  
Patient Characteristics ◽  
Tensile Failure ◽  
Traumatic Rupture ◽  
Single Institution ◽  
Ankle Motion ◽  
Tendon Ruptures

Category: Sports, tendon Introduction/Purpose: The tibialis anterior serves an important role in ankle motion as it provides the majority of strength with dorsiflexion. Despite the importance of this muscle, there is a relative dearth of information regarding risk factors and demographic information that might predispose people to tendinopathy or rupture. The goal of this study is to further investigate the features of patients in a single institution who presented with either tibialis anterior tendinopathy or rupture. We also examined the ways in which these patient characteristics might differ in traumatic (patient remembers feeling a pop after a specific activity) versus atraumatic tendon ruptures (happened spontaneously without patient realizing). Methods: We used ICD-9 and ICD-10 codes to find patients who presented with tibialis anterior pathology to two foot and ankle surgeons at one academic medical center from 2007-2018. We made note of patient characteristics such as age, gender, BMI, and medical comorbidities. Physical examination findings, such as gastrocnemius equinus, were noted as well. Characteristics of patients with traumatic and atraumatic tibialis anterior ruptures were compared using Student’s T-tests and chi-squared tests. Results: The characteristics of 93 consecutive patients between 2007 and 2018 were analyzed. There were 80 cases of tendinopathy, and 13 cases of tibialis anterior rupture. The average age of our patient group was 56 years, and the ratio of female to male was 73:20 (3.67:1). The average BMI was 27.2 kg/m2. 15 patients had a gastrocnemius equinus (16%). 75 patients had a neutral arch (81%), 16 patients had pes planus (17%), and two patients had pes cavus (2%). With regards to those who ruptured, there were two traumatic ruptures and 11 atraumatic ruptures. Average age for traumatic rupture was 39 years compared to 73 for atraumatic rupture (p<.05). Average BMI for traumatic rupture was 21 compared to 27 kg/m2 (p>.05). Conclusion: Our study investigates the features of patients in a single institution who presented with tibialis anterior pathology. This pathology was much more common in women and generally occurred in an older cohort. With regards to tendon ruptures, though, younger patients tend to suffer traumatic ruptures, while older patients are more likely to suffer more degenerative ruptures that required less energy for tensile failure of the tendon.

The metabolic implications of long term cannabis use in patients with psychosis

2008 ◽  
Vol 17 (3) ◽  
pp. 221-226 ◽  
Author(s):  
Farrah Mushtaq ◽  
Valeria Mondelli ◽  
Carmine M. Pariante
Keyword(s):  
Body Weight ◽  
General Population ◽  
Endocannabinoid System ◽  
Cannabis Use ◽  
Long Term Effects ◽  
Glucose Levels ◽  
High Prevalence ◽  
Vulnerable Patient ◽  
Vulnerable Patient Group

SummaryAimsThe aim of this paper is to summarise the effects of cannabis use on appetite and energy balance, and to subsequently investigate the possible implications this may have in patients with psychosis, in whom a high prevalence of cannabis use has been reported.Methods– A narrative review based on the recent literature regarding cannabis use in the gen-eral population and patients with psychosis.Results– The short-term abilities of cannabis to increase appetite and body weight, through actions on the endogenous endocannabinoid system, have been well characterised throughout the literature. The long term effects of cannabis use are however unclear and only a minority of studies have been conducted in the general population with overall conflicting results. In terms of the effects of cannabis in patients with psychosis, there has only been one study to date that has investigated this and interestingly found cannabis use to be associated with increased body weight and blood glucose levels, thus providing evidence that cannabis use may be an important contributing factor to the reduced life expectancy, as is currently observed in this vulnerable patient group.Conclusions– It is clear from the literature that patients with psychosis are at a high risk of metabolic and cardiovascular disease in comparison to the general population. However the contribution of cannabis use to this risk is as of yet undetermined and further long term studies are need to confirm current findings and evaluate hypothesised mechanisms.Declaration of Interest: None.

Peripherally Inserted Central Venous Catheters: First Results after the Introduction in a Dutch University Medical Center

2008 ◽  
Vol 13 (3) ◽  
pp. 128-133 ◽  
Author(s):  
Anton J.H. van Boxtel ◽  
Monica C. Fliedner ◽  
Dirk M. Borst ◽  
Saskia C.C.M. Teunissen
Keyword(s):  
Dwell Time ◽  
Medical Center ◽  
Controlled Trial ◽  
Bloodstream Infections ◽  
Patient Characteristics ◽  
Positive Outcome ◽  
Seldinger Technique ◽  
First Results ◽  
Subclavian Catheter ◽  
Meta Analyses

Abstract Purpose: To analyze patient outcomes and processes of insertion after the introduction of the peripherally inserted central catheter (PICC) in the University Medical Center Utrecht (UMC Utrecht) in the Netherlands. Patients and method: A prospective analysis of PICC inserted in the UMC Utrecht looking at patient characteristics, dwell time and infections. Results: A total number of 510 PICCs in 439 patients with 17655 catheter days were analyzed using ultrasound (US) and modified Seldinger technique (MST). Overall there were 2.35 catheter-related bloodstream infections (CRBSI) per 100 devices and 0.68 infections per 1000 catheter days. When used specifically for home infusion, the CRBSI rates were 1.09 per 100 devices and 0.23 per 1000 catheter days. One advanced nurse practitioner (ANP) inserted all PICCs. Although a full sterile barrier (no hat and gown) was not used during insertion, the infection rate in our study was lower compared to the 1.1 infection per 1000 catheter days reported in a meta-analyses on CRBSI (Maki, Kluger, & Crnich, 2006). Conclusion: Through the use of modern techniques like US and MST and upper arm insertion of PICCs, the complication rate is lower compared to older techniques as shown in most prospective studies. Extended dwell time, as a positive outcome of using PICCs made more doctors decide to choose a PICC. Age of the patient did not influence dwell time or complications. Further research, preferably a randomized controlled trial, is needed to compare the subclavian catheter with the PICC as well as exploration of the effects of anticipatory choice for PICCs, specifically in immune compromised patients.

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