Adult Physicians Research Articles

Cowden Syndrome and the PTEN Hamartoma Tumor Syndrome: How to Define Rare Genetic Syndromes

Cowden syndrome (OMIM No. 158350) and Bannayan-Riley-Ruvalcaba syndrome (BRRS) (OMIM No. 153480) are autosomal dominant conditions described before the genetic testing era. The early reports of Cowden syndrome were by adult physicians and dermatologists who recognized a pattern of benign and malignant tumors affecting the breast and thyroid, accompanied by characteristic acral keratosis and trichilemmomas of the skin (1,2,3). BRRS was described by pediatricians and clinical geneticists, with the principle features being macrocephaly, delayed development, lipomata, hemangiomas, and vascular malformations, along with pigmented macules of the penis (4,5). Both conditions are caused by mutations in the PTEN gene (OMIM+601728) (6,7). There is no definite association between the type or position of mutation within the PTEN gene and the clinical presentation of the patient. Both conditions have been described in different members of the same family with the same mutations, and it is clear that meticulous examination reveals features of childhood-onset BRRS in adults presenting with the features of Cowden syndrome and vice versa. It is therefore generally accepted that they are one condition, with variable expression and age-related penetrance (8,9,10,11). Genetic heterogeneity has been reported with reports of Cowden-like patients(ie, those who do not fulfill criteria for PTEN hamartoma syndrome [PHTS]) with mutations in SDHB, SDHD, AKT, and PIK3CA, as well as hypermethylation of the promoter of the KLLN gene (12,13,14,15).

Fundoplication for gastroesophageal reflux disease: regional variability and factors predicting operative approach

We have recently shown that the majority of patients undergoing fundoplication in the United States are women. Based on these findings, we hypothesized that nonbiological factors contribute to the decisions on surgical reflux therapy. Using State Inpatient Databases of the Agency for Healthcare Research and Quality, we extracted annual fundoplication rates, sex distribution, age cohorts, racial background, and insurance coverage. To account for potential differences in state populations, the results were normalized and correlated with Census data, adult obesity rates, median income, poverty rates, and physician workforce within the state. Fundoplication rates varied fivefold between states, ranging from 4.1±0.1 per 100,000 in New Jersey to 21.8±0.4 per 100,000 in Oregon. Higher poverty rates and a higher fraction of Caucasians within a state independently predicted higher fundoplication rates. While the majority of operations were performed laparoscopically, surgical approaches also differed between states with rates of laparoscopic ranging from 52.3±1.8% in Oklahoma to 87.4±1.7% in Hawaii. A lower number of pediatric and Medicaid-insured patient and a higher fraction of privately insured patients best predicted higher rates of laparoscopic surgery. Our study shows significant regional variation in surgical reflux management, which cannot be explained by differences in disease mechanisms. Insurance coverage and racial background influenced the likelihood of surgery, suggesting a role of financial incentives.

Healthcare Provision for Diabetes in Canada and Globally: Perspectives of Multiple Stakeholders in the Second Diabetes Attitudes, Wishes and Needs (DAWN2) Study

s / Can J Diabetes 37 (2013) S13eS84 S20 audio recorded, transcribed and analyzed for themes using categorization and line-by-line coding. Results: Four main themes emerged: (1) the importance of personalized medicine in transition health given the individuality of each patient experience; (2) communication barriers between the patient and healthcare team, notably regarding the execution of the transition itself and location of future health services; (3) the significance of ensuring adolescent to new adult physician compatibility prior to transition and (4) the poor management of adolescents in pediatric medicine, particularly with respect to identifying their maturity level and subsequently offering appropriate healthcare. Conclusions: We have identified tangible areas of the transition process in the TEGH community that require improvementdall of which converge on an over-arching theme of communication between the patient and their new and old healthcare providers.

Indoor Tanning Amongst Young Adults: Time to Stop Sleeping on the Banning of Sunbeds

Since the industrial revolution, “a tan” has been a status symbol of wealth and leisure in many countries. Tanning beds expose the skin to ultraviolet radiation (UVR) sufficient to cause keratinocyte DNA damage and to induce production of melanin—a pigment that absorbs ultraviolet (UV) light. Tanning salons have served as a quick, convenient and inexpensive way to attain this “healthy, wealthy look.” As such, indoor tanning has become a big business in the United States, with over 50,000 indoor tanning facilities generating annual revenues of over $5 billion USD. The association between tanning and skin cancer (both melanoma and non-melanoma) in adulthood has been well established, especially amongst individuals with early childhood and adolescent exposure. Increasingly, tanning is being outlawed for minors, with the California legislature leading the way in January 2012. Similar to smoking cessation counseling and therapy, adult medicine physicians have a unique opportunity to discourage tanning bed use, acting to prevent irreparable DNA damage to the skin prior to the development of skin cancers. In this comment, we provide an update on the epidemiology of tanning bed use and its association with skin cancers, the opioid-like effects of tanning, pending tanning-related legislation and special interests, and close with clinical pearls for addressing this issue with patients.

Using electronic surveys to gather information on physician practices during a response to a local epidemic—Rhode Island, 2011

BackgroundElectronic invitations may improve physician response rates to participate in internet surveys administered by public health agencies. MethodsFollowing an increase in reported HIV/syphilis co-infection diagnoses among men-who-have-sex-with-men in Rhode Island, we invited the state's 700 adult primary care and emergency medicine physicians via e-mail to participate in an online, multiple choice survey covering their knowledge, attitudes, and practices regarding sexually transmitted diseases and HIV testing and prevention. Survey invitations were released in three waves over 28 days, triggered by declining daily response rates. ResultsAmong 53% (n = 372) who agreed to participate, 68% (n = 252) completed all questions. Response was higher among internal medicine physicians than either family medicine or emergency medicine physicians (63% vs. 20% and 19%, respectively; P<0.0001). Daily response rates were highest in the first 48 hours after sending a reminder e-mail. ConclusionThis approach supported the Rhode Island Department of Health in rapidly gathering useful physician practice information during an outbreak. Internet-based survey tools coupled with increased prevalence of mobile communication devices and social media could greatly decrease the time and cost of shoe-leather epidemiology.

Long-Term Doctor-Patient Relationships: Patient Perspective From Online Reviews

BackgroundContinuity of patient care is one of the cornerstones of primary care.ObjectiveTo examine publicly available, Internet-based reviews of adult primary care physicians, specifically written by patients who report long-term relationships with their physicians.MethodsThis substudy was nested within a larger qualitative content analysis of online physician ratings. We focused on reviews reflecting an established patient-physician relationship, that is, those seeing their physicians for at least 1 year.ResultsOf the 712 Internet reviews of primary care physicians, 93 reviews (13.1%) were from patients that self-identified as having a long-term relationship with their physician, 11 reviews (1.5%) commented on a first-time visit to a physician, and the remainder of reviews (85.4%) did not specify the amount of time with their physician. Analysis revealed six overarching domains: (1) personality traits or descriptors of the physician, (2) technical competence, (3) communication, (4) access to physician, (5) office staff/environment, and (6) coordination of care.ConclusionsOur analysis shows that patients who have been with their physician for at least 1 year write positive reviews on public websites and focus on physician attributes.

How do we define complete remission for acute myeloid leukemia in the current era? Results of an international survey

Interpretation of complete remission (CR) in acute myeloid leukemia (AML) remains a topic of debate. In 2003, the International Working Group (IWG) published recommendations for standardization of response criteria in AML.[1] The combination of morphologic remission (<5% marrow blasts) and absence of a unique phenotype by flow cytometry was used. Whether practioners still use these or have begun to incorporate cytogenetic/ molecular markers into their definition of CR is not known. With increasing knowledge of cytogenetic/ molecular changes for AML that could define CR,[2, 3] this information may already be in use to classify remission for treatment decisions. To address this question, we created an electronic survey comprised of questions to identify criteria physicians use to classify CR in AML and how these influence treatment recommendations. The survey was sent to members of the Children’s Oncology Group, American Society for Blood and Marrow Transplantation, American Society of Hematology and Pediatric Blood and Marrow Transplant Consortium. Responses were compared between pediatric and adult, oncologists and bone marrow transplant (BMT) and North American (NA) and non-North American (non-NA) physicians. Survey responses for each question were summarized by frequency and percentage. Comparisons between physician characteristics were carried out by either Chi-square or Fisher’s exact tests. P-values less than 0.05 were considered statistically significant. We received 553 responses (Table 1), of which 38 did not treat AML and were excluded. The remaining 515 surveys were completed by 207 (40.2%) adult and 308 (59.8%) pediatric physicians; 175 (34.0%) who identified as hematology-oncology and 340 (66.0%) BMT (or BMT/Hem-Onc) physicians. Pediatric physicians were significantly more likely to use cytogenetic/ molecular markers to define CR than adults. Pediatric physicians were also more likely to recommend further chemotherapy over hematopoietic cell transplantation (HCT) compared to adult physicians in cases of flow cytometric, cytogenetic or molecular evidence of residual disease after 2 courses of induction therapy. Other differences included recommending additional chemotherapy over HCT by Hem-Onc physicians in patients with flow cytometric evidence of disease, as well for patients in cytogenetic remission (by G-banding). It is interesting to note that in 3 of 5 scenarios, BMT physicians were more in favor of HCT then Hem-Onc physicians but similar in the other 2 scenarios which suggests management of patients is influenced not only by objective criteria but subjective considerations as well. The response did not vary if the physician was in North America or elsewhere (not shown). Table 1 Survey Results It is interesting that many participants considered flow cytometry an important tool to asses CR, as recommended by the IWG.[1] However in general, flow cytometric evidence of leukemia after induction therapy was more often managed as CR (recommending additional consolidation) rather than persistent leukemia (proceeding with a clinical trial or salvage chemotherapy). On the other hand, for patients with no morphologic or flow cytometric evidence of leukemia, but molecular evidence, (e.g. FLT3-ITD mutation positivity), consolidation chemotherapy was recommended more often than HCT by pediatric physicians. This survey highlights the somewhat surprising differences between pediatric, adult, Hem-Onc and BMT physicians for defining CR and making decisions. How to integrate newly evolving diagnostic methods with more traditional approaches is difficult. As recently outlined,[3],[2] it may now be time for further redefinition of CR in AML by combining flow cytometric and molecular techniques, but whether this will translate to improved outcomes is yet to be shown.

Cross‐sectional observational study of 208 patients with non‐classical urea cycle disorders

Urea cycle disorders (UCDs) are inherited disorders of ammonia detoxification often regarded as mainly of relevance to pediatricians. Based on an increasing number of case studies it has become obvious that a significant number of UCD patients are affected by their disease in a non-classical way: presenting outside the newborn period, following a mild course, presenting with unusual clinical features, or asymptomatic patients with only biochemical signs of a UCD. These patients are surviving into adolescence and adulthood, rendering this group of diseases clinically relevant to adult physicians as well as pediatricians. In preparation for an international workshop we collected data on all patients with non-classical UCDs treated by the participants in 20 European metabolic centres. Information was collected on a cohort of 208 patients 50% of which were ≥ 16 years old. The largest subgroup (121 patients) had X-linked ornithine transcarbamylase deficiency (OTCD) of whom 83 were female and 29% of these were asymptomatic. In index patients, there was a mean delay from first symptoms to diagnosis of 1.6 years. Cognitive impairment was present in 36% of all patients including female OTCD patients (in 31%) and those 41 patients identified presymptomatically following positive newborn screening (in 12%). In conclusion, UCD patients with non-classical clinical presentations require the interest and care of adult physicians and have a high risk of neurological complications. To improve the outcome of UCDs, a greater awareness by health professionals of the importance of hyperammonemia and UCDs, and ultimately avoidance of the still long delay to correctly diagnose the patients, is crucial.

G209 Managing Substance Misuse in Young People – What Works?

Alcohol and Drug use in Young People is a current national topic of great curiosity which occasionally, junior doctors manage with less interest during busy A&E shifts and pressing admission...

Immature brain in adolescence

Immature brain in adolescence

Diana Bilton: a pioneer in cystic fibrosis

Diana Bilton: a pioneer in cystic fibrosis

Availability of Child Passenger Safety Resources to Emergency Physicians Practicing in Emergency Departments Within Pediatric, Adult, and Nontrauma Centers

More can be done to eliminate preventable motor vehicle collision (MVC)-related injuries through correct and consistent use of child passenger restraints. This study sought to determine emergency physician awareness of and referral patterns to child passenger safety resources and to compare awareness and referrals by practice setting. This was a cross-sectional mailed survey of a national random sample of 1200 emergency physicians drawn from the American Medical Association Physician Masterfile. Responses were returned by 638 (64%) of 1000 of physicians with a valid mailing address. Fifty-two percent reported working in an emergency department (ED) within a pediatric trauma center, 23% in an adult trauma center, and 25% in a nontrauma center. Police or fire department car seat installation programs were most frequently available (65% pediatric, 56% adult, 48% nontrauma center), and free/reduced-price booster seat programs least frequently available (46% pediatric, 30% adult, 23% nontrauma center) (P < 0.001). Half of pediatric trauma center physicians would always recommend replacement of a 3-year-old's car seat following a roll-over MVC compared with one third of adult and nontrauma center physicians (P < 0.001). There were no significant differences by practice setting for distribution of discharge instructions containing child passenger safety information or referrals to available resources. Availability of child passenger safety resources for children discharged from EDs following an MVC varies by practice setting. Pediatric injury prevention outreach to general EDs is needed to increase the number of children who are benefiting from existing community child passenger resources.

A Pilot Study Exploring the Role of Physical Therapists and Transition in Care of Pediatric Patients with Cystic Fibrosis to the Adult Setting

Cystic fibrosis (CF) is a disease that requires intensive multidisciplinary care, including care by physical therapists (PTs). People with CF are now living well into adulthood, necessitating a transfer of care from the pediatric setting to an adult one. Physical therapists play a large role in the care of the person with CF; however, there is little known about the PT role in transition of care. To explore transition issues for people with CF from the perspective of PTs. An 18-question online survey was sent to PTs via an electronic CF listserv. Questions were derived from an analysis of transition literature in CF and other chronic childhood conditions. Physical therapists who reported treating people with CF gave their opinions on issues impacting transition from their perspective as well as their perception of patient and parent concerns. Descriptive statistics were used for data analysis. A total of 26 PTs completed the survey. A majority, 61.5%, reported that there was a transition program at their facility, with 42.3% involving physical therapy. Common themes for patients and parents included feeling uncertain about: knowledge of the adult physician, acquiring pulmonary infections in the adult setting, and pace of the adult clinic. Physical therapists were concerned about adherence with airway clearance and exercise following transfer to the adult clinic. The role of PT in transition programs is quite varied. Physical therapists should address common concerns of their patients and families to improve the transition process and possibly impact adherence to the PT plan of care.

Characterizing the transition from paediatric to adult care among emerging adults with Type 1 diabetes

The goals of the study were to describe the transition of youth with Type 1 diabetes from paediatric to adult healthcare services, examine the link of this transition with self care and glycaemic control, and distinguish youth who received medical treatment from different physicians in terms of demographic and parent relationship variables. Youth with Type 1 diabetes (n = 118) were enrolled in a prospective study that examined the transition from the paediatric to adult healthcare systems and were evaluated during their senior year of high school (time 1) and 1 year later (time 2). Data on self care, glycaemic control and parent relationship were collected. The majority of youth saw a paediatric endocrinologist at both assessments (n = 64); others saw an adult care physician at both assessments (n = 26) or transitioned from a paediatric endocrinologist to an adult care physician (n = 19). Nine youth saw no physician between time 1 and time 2. There were group differences in demographic and parent relationship variables and self-care behaviour and glycaemic control related to the transition of care. Youth who remained in the paediatric healthcare system had the best self care and did not experience declines in glycaemic control over time. Early transition from the paediatric healthcare system to the adult healthcare system is associated with psychosocial variables and worse glycaemic control. Future research should identify factors that determine optimal timing and strategies to avoid deterioration of care and control during this transition.

Early life influences on the development of chronic obstructive pulmonary disease.

There is increasing evidence that chronic obstructive pulmonary disease (COPD) is not simply a disease of old age that is largely restricted to heavy smokers, but may be associated with insults to the developing lung during foetal life and the first few years of postnatal life, when lung growth and development are rapid. A better understanding of the long-term effects of early life factors, such as intrauterine growth restriction, prenatal and postnatal exposure to tobacco smoke and other pollutants, preterm delivery and childhood respiratory illnesses, on the subsequent development of chronic respiratory disease is imperative if appropriate preventive and management strategies to reduce the burden of COPD are to be developed. The extent to which insults to the developing lung are associated with increased risk of COPD in later life depends on the underlying cause, timing and severity of such derangements. Suboptimal conditions in utero result in aberrations of lung development such that affected individuals are born with reduced lung function, which tends to remain diminished throughout life, thereby increasing the risk both of wheezing disorders during childhood and subsequent COPD in genetically susceptible individuals. If the current trend towards the ever-increasing incidence of COPD is to be reversed, it is essential to minimize risks to the developing lung by improvements in antenatal and neonatal care, and to reduce prenatal and postnatal exposures to environmental pollutants, including passive tobacco smoke. Furthermore, adult physicians need to recognize that lung disease is potentially associated with early life insults and provide better education regarding diet, exercise and avoidance of smoking to preserve precious reserves of lung function in susceptible adults. This review focuses on factors that adversely influence lung development in utero and during the first 5 years of life, thereby predisposing to subsequent COPD.

Unmet needs in asthma treatment in a resource-limited setting: findings from the survey of adult asthma patients and their physician in Nigeria

IntroductionThe prevalence of asthma in our society is rising and there is need for better understanding of the asthma patients’ perception and treatment practice of physicians. The study was aimed at determining asthma attitudes and treatment practices among adult physicians and patients in Nigeria, with the goal of identifying barriers to optimal management.MethodsTo assess asthma attitudes, treatment practices and limitations among adult physicians and patients in Nigeria, a questionnaire survey was conducted among 150 patients and 70 physicians.ResultsMajority (66.7%) of the patients reported their asthma as moderate to severe, 42.7% had emergency room visit and 32% had admission due to asthma in the previous 12 months. Physicians and patients perceptions significantly differed in the time devoted to educational issues (31.4% vs.18.7%) and its contents: individual management plan (64.3% vs.33.3%), correct inhaler technique (84.0% vs.71.0%), medication side effects (80.0% vs.60.0%) and compliance 100% of time (5.7% vs. 18.7%). Patients reported that non-compliance with medication causes increased symptoms (67.0%), exacerbations (60.0%), bronchodilator use (56.0%), urgent physician visit (52.0%) and hospitalizations /ER visits (38.7%). Asthma medication in patients caused short term (10.7%) and long term side effects (20.0%). Due to side effects, 28.0% skipped and stopped their medications. Most physicians (85.7%) and patients (56.0%) agreed on the need for new medication options. The need for new medication in patients was strongly related to asthma severity, limitation of activities, side effects, cost and lack of satisfaction with current medication. With the exception of pulmonologists, physicians did not readily prescribe ICS and their prescriptions were not in line with treatment guidelines.ConclusionThis study has highlighted the gaps and barriers to asthma treatment which need to be addressed to improve the quality of care in Nigeria.

The past half century of Indian Academy of Pediatrics (IAP)

Pediatrics as a specialty of medicine has come a long way indeed, from the time when children were treated by adult physicians, to the current times when super specialties exist within the field of pediatrics. Indian Academy of Pediatrics, the singular body connecting pediatricians from all parts of the country in a common ideological thread, has also grown in size and stature, from the time when it was launched by 159 pediatricians, to the present time when it boasts of membership strength of 20,300. Indian Academy of Pediatrics will become a 50 years old ‘mature’, at the dawn of the year 2013. This is a juncture to take stock of IAP’s youthful years of growth, development and expansion, and to confidently march into its golden middle age with a greater vigour, and to develop a larger sphere of influence in matters related to child health in India.

‘Everybody’s business’: transition and the role of adult physicians

The outcome of transition from paediatric to adult care is often judged by what happens after transfer. Young people at the point of transfer are reported to have low levels of knowledge and independence. These observations could be interpreted in one of two ways: either that the transition process before transfer is inadequate or that the transition process needs to continue into young adulthood and therefore adult care. The second interpretation is further supported by brain development continuing into the third decade. There is also growing evidence for the effectiveness of young adult clinics in the process of transition. To optimise transition, adult physicians need not only to work with paediatricians to achieve continuity during transfer, but also to look critically at their service as to how it can be changed to meet the needs of young people. In addition, they need to develop knowledge, skills and attitudes to communicate effectively and address a young person's developmental and health needs.

Excellence in diabetes and endocrinology 2012; September 6-8, 2012, Rocco Forte Hotel, Abu Dhabi, UAE

This conference is the second of the series of “Excellence in Diabetes and Endocrinology” organized jointly by the adult and pediatric departments of endocrinology at Sheikh Khalifa Medical City and Mafraq Hospitals in Abu Dhai, United Arab Emirates. The organizers are building on the great success of the first meeting held in 2010. The importance of adult and pediatric endocrine physicians is particularly relevant in this part of the world where the transfer of care from pediatrics to adults clinic may occur as early 13 years of age. Practicing adult physicians may find themselves faced by situations they may not have met during their formal training. Several international, regional and national speakers participated in the conference to address most topical issues in diabetes and endocrinology covering global and regional epidemiology, diagnostic strategies, and the latest good clinical care guidelines. The abstracts are grouped under the sub-headings of their respective sessions. We hope by publishing these abstracts we extend the education cause of the conference.

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Case Reports: Patients with Acquired Immunodeficiency Disease Syndrome (AIDS) present diagnostic and therapeutic dilemmas to the intensive care physician. In this rare case, we describe a patient presenting with profound meningitis with cerebral sinus thrombosis secondary to Group A streptococcus mastoiditis. A 30 year-old HIV-infected man was brought to the ED because of acute-onset altered mental status. In the emergency department, the patient was stuporous, mumbling words, and combative. Temperature was 103.4 degrees, blood pressure 138/94, respiratory rate 18, and heart rate 145. Physical exam was positive for purulent discharge from left ear, with erythema on posterior wall of the left ear, and nuchal rigidity. The patient was admitted to the intensive care unit after being intubated for airway protection. He received intravenous dexamethasone, vancomycin, ceftriaxone, and acyclovir. A CT of the head without contrast demonstrated under-pneumatized left mastoid air cells, with no evidence of any mass effect. Lumbar puncture showed a cloudy CSF with an opening pressure of >60 cm/H20, with elevated protein, low glucose, high PMNs, and gram stain was negative. The CD4 count was 53. A brain MRI showed extensive left mastoiditis, left cerebellar cerebritis, multiple small acute infarcts in the supratentorial brain, and occlusion of the left transverse and sagital sinus, which was later confirmed by an MRA. He was started on anticoagulation with unfractioned heparin, later bridged to warfarin. The blood and ear drainage cultures grew penicillin-sensitive S. pyogenes, and antibiotics were appropriately managed. Inicidentally, Strongyloides larvae were noted on a stool exam after developing diarrhea, sand the patient was given 2 doses of ivermectin. On Day 6 with appropriate therapy, the patient’s mental status slowly improved and he was extubated. After the initial presentation, HAART was started and a total of six months anticoagulation with warfarin was recommended. The patient completed a total antibiotic course of 6 weeks, with a moderate neurologic recovery requiring aggressive physical therapy and a feeding tube for improved nutrition. Patients with AIDS present with complicated infectious courses. Although the intensivist is concerned with prototypic diseases such as toxoplasmosis, pneumocystis, and mycobacteria; common bacterial illness with sequelae such as group A streptococcus must be ascertained. Although cerebral sinus thrombosis and meningitis is more commonly seen in pediatrics as sequelae from mastoiditis, adult intensive care physicians must be aware of rare presentations in adults among immunocompromised patients.