Pachyonychia Congenita: A Spectrum of KRT6a Mutations in Australian Patients.

BACKGROUND: Pachyonychia congenita (PC) is a rare inherited disorder of keratinization characterised by hypertrophic nail dystrophy, painful palmoplantar blisters, cysts, follicular hyperkeratosis and oral leukokeratosis. It is associated with mutations in five differentiation-specific keratin genes, KRT6A, KRT6B, KRT6C, KRT16, or KRT17. OBJECTIVES: Living with Pachyonychia Congenita can be isolating. The aim of this paper is to document a single patient's experience within a national context. METHOD: We report the case of a 2 year old female with an atypical presentation of PC due to a mutation in KRT6A with severely hypertrophic follicular keratoses, skin fragility, relative sparing of nail hypertrophy on one hand and failure to thrive in early infancy. In collaboration with the International Pachyonychia Congenita Research Registry (IPCRR), a database search was performed using Australian residency and KRT6A mutation as inclusion criteria. The IPCRR database was also searched for a matching KRT6A mutation. Six Australian patients were identified in addition to one patient with an identical mutation residing in the United States. The detailed standardized patient questionnaire data was manually collated and analysed. RESULTS: Fingernail hypertrophy and oral leukokeratosis were the most common features. There was no recording of asymmetric distribution in any other Australian patient. Trouble nursing as an infant and follicular hyperkeratosis also occurred in the American patient, however they did not have asymmetric distribution and the oral leukokeratosis appeared later in life. CONCLUSION: This case has unique features. Sharing information can assist patients navigating life with this condition.

Hereditary vitamin D-resistant rickets presenting as alopecia.

Hereditary vitamin D-resistant rickets (HVDRR) is a rare autosomal recessive disorder caused by mutations in the vitamin D receptor (VDR) gene. We report the case of an infant presenting with alopecia, growth failure, and gross motor developmental delay. Serum biochemistry and skeletal survey were consistent with rickets. After a poor response to standard treatment, genetic testing confirmed a c.147-2A>T novel mutation in the VDR gene consistent with HVDRR. It is important for dermatologists and pediatricians to recognize alopecia as a presenting sign of HVDRR because appropriate treatment leads to better growth and development of the child.

Medico-legal cases associated with older physicians' cognitive ability to practice medicine.

BACKGROUND: Dementia increases as individuals age. Aging physicians represent a growing population. Studies have demonstrated there are physicians with cognitive impairments practicing medicine. The medico-legal consequences of physicians with cognitive impairments have not been investigated. METHODS: The Canadian Medical Protective Association (CMPA) is a national medical association with 108,000 members who advise and assist doctors with medico-legal matters. They maintain a national repository of legal actions and complaints to regulatory bodies and hospitals. We looked at civil-legal and regulatory college cases closed over a 10-year period associated with physicians aged ≥55. A word search of the cases was conducted using "Dementia, Alzheimer, Cognitive impairment, Cognitive decline, Memory loss, Memory issues, Fit for/to practice." RESULTS: The CMPA closed 67,566 cases between 2012 and 2021 and 16% (10,599) involved members ≥55. A mixed methodology approach identified 65 cases associated with physician's cognitive ability to practice medicine. Of these 65 cases, the average age of physician was 71.3 (56.1-88.5). The proportion of cases where concern was associated with a physician's cognitive ability to practice medicine increased, from 0.2% of cases in 55-60-year-olds, to 7.7% in physicians over 80. INTERPRETATION: As physicians age, concerns about cognitive impairment are more likely to contribute to medico-legal matters.

Underreporting Supplements: A Case of Drug-induced Liver Injury Due to a Testosterone Booster.

Acute liver injuries (ALIs) are caused by a wide range of etiologies, and determining the cause can often be challenging. Detailed history taking is essential in patients with liver injuries to promptly determine the underlying source of injury and for timely treatment and prognosis. A 27-year-old active duty man presented to the emergency department (ED) with jaundice. On medication reconciliation, he only reported taking acetaminophen for a recent upper respiratory infection. The patient had an ALI and was treated with N-acetyl cysteine for presumed acetaminophen toxicity. Initially, his liver-associated enzymes (LAEs) improved, but 2 weeks after discharge, he returned to the ED upon referral from ship medical for jaundice and worsening liver injury. Repeated query into the patient's history revealed that he was using a testosterone booster supplement for 6 months preceding initial hospitalization. After evaluation of other etiologies for liver injury returned negative, drug-induced liver injury from the testosterone booster was determined to be the underlying etiology. With discontinuation of the supplement, his liver injury improved. Hepatotoxicity is a major concern in supplement use; however, it is largely underreported. Supplements are often not recognized or reported as medications by patients, leading to failure to identify them as potential toxicants. This case highlights the importance of including supplement education and questioning in the evaluation of ALI and maintaining a high index of suspicion when other common etiologies of liver disease are negative.

Long-term cognitive impairment after probable delirium in long-term care residents: A population-based retrospective cohort study.

BACKGROUND: The impact of delirium on cognition has not been well-studied in long-term care (LTC) residents. This study examined changes in cognition 1 year after a probable delirium episode among LTC residents, compared to LTC residents without probable delirium. We also evaluated whether the relationship between probable delirium and cognitive change differed according to a diagnosis of dementia. METHODS: We conducted a population-based retrospective cohort study using linked health administrative data. The study population included adults aged 65+ residing in LTC in Ontario, Canada and assessed via the Resident Assessment Instrument-Minimum Dataset between January 1, 2016 and December 31, 2018. Probable delirium was ascertained via the delirium Clinical Assessment Protocol on the index assessment. Cognition was measured quarterly using the Cognitive Performance Scale (range 0-6, higher values indicate greater impairment). Cognitive decline up to 1 year after index was evaluated using multivariable proportional odds regression models. RESULTS: Of 92,005 LTC residents, 2816 (3.1%) had probable delirium at index. Residents with probable delirium had an increased odds of cognitive decline compared to those without probable delirium, with adjusted odds ratios of 1.64 (95% confidence interval [CI] 1.35-1.99), 1.56 (95% CI 1.34-1.85), 1.57 (95% CI 1.32-1.86) and 1.50 (95% CI 1.25-1.80) after 1-3, 4-6, 7-9, and 10-12 months of follow-up. Residents with probable delirium and a comorbid dementia diagnosis had the highest adjusted odds of cognitive decline (adjusted odds ratio 5.57, 95% CI 4.79-6.48) compared to those without probable delirium or dementia. Residents with probable delirium were also more likely to die within 1 year than those without probable delirium (52.5% vs. 23.4%). CONCLUSIONS: Probable delirium is associated with increased mortality and worsened cognition in LTC residents that is sustained months after the probable delirium episode. Efforts to prevent delirium in this population may help limit these adverse effects.

Association of Disease Trajectory and Place of Care with End-of-Life Burdensome Transitions: A Retrospective Cohort Study.

OBJECTIVES: End-of-life (EOL) transitions to hospital can be burdensome for older adults and may contribute to poor outcomes. We investigated the association of disease trajectory and place of care with EOL burdensome transitions. DESIGN: Retrospective cohort study using administrative data. SETTING/PARTICIPANTS: Ontarians aged ≥65 years who died between 2015 and 2018 and received long-term care (LTC) or home care 6 months before death. METHODS: Disease trajectories were defined based on EOL functional decline: terminal illness, organ failure, frailty, sudden death, and other. Places of care included LTC, EOL home care, and non-EOL home care. Burdensome transitions were defined as early (≥3 hospitalizations for any reason or ≥2 hospitalizations due to pneumonia, urinary tract infection, sepsis, or dehydration in the last 90 days of life) or late (≥1 hospitalizations for any reason in the last 3 days of life). Multinomial logistic regression tested for effect modification between disease trajectory and places of care on burdensome transitions. RESULTS: Of 110,776 decedents, 40.7% had organ failure, 37.5% had frailty, and 12.8% had a terminal illness, with the remainder in sudden death or other categories. Most were in LTC (62.5%), and 37.5% received home care, with 6.8% receiving designated EOL home care and 30.7% non-EOL home care. There was a significant interaction (P < .001) between disease trajectory and care settings. Compared with terminal illness, organ failure was associated with increased odds of early transitions across all care settings [odds ratios (ORs) ranging 1.14-1.21]. Frailty was associated with increased odds of early transitions solely for non-EOL home care recipients (OR 1.17, 95% CI 1.06-1.28). Organ failure and frailty were associated with increased odds of late transitions across all settings, with organ failure having greater odds in LTC (organ failure OR 2.29, 95% CI 2.02-2.60, vs frailty OR 1.79, 95% CI 1.58-2.04). CONCLUSIONS AND IMPLICATIONS: Disparities exist in burdensome transitions, notably for noncancer decedents with organ failure in LTC. Enhancing palliative care may help reduce burdensome transitions and improve patient outcomes.

Potentially Inappropriate Prescribing in Long-Term Care and its Relationship With Probable Delirium.

OBJECTIVES: This study examined potentially inappropriate prescribing (PIP) of medication and its association with probable delirium among long-term care (LTC) residents in Ontario, Canada. DESIGN: Population-based cross-sectional study using provincial health administrative data, including LTC assessment data via the Resident Assessment Instrument-Minimum Dataset version 2.0 (RAI-MDS 2.0). SETTING AND PARTICIPANTS: LTC residents in Ontario between January 1, 2016, and December 31, 2019. METHODS: We used residents' first RAI-MDS 2.0 assessment in the study period as the index assessment. Probable delirium was identified via the delirium Clinical Assessment Protocol. Medication use in the 2 weeks preceding assessment was captured using medication claims data. PIP was measured using the STOPP/START criteria and 2015 Beers criteria, with residents classified as having 0, 1, 2, or 3+ instances of PIP. Relationships between PIP and probable delirium was assessed via bivariate and multivariable logistic regression models. RESULTS: The study population included 171,190 LTC residents (mean age 84.5 years, 66.8% female, 62.9% with dementia). More than half (51.8%) of residents had 1+ instances of PIP and 21% had 3+ instances of PIP according to the STOPP/START criteria; PIP prevalence was slightly lower when assessed using Beers criteria (36.5% with 1+, 11.1% with 3+). Overall, 3.7% of residents had probable delirium. The prevalence of probable delirium increased as the number of instances of PIP increased, with residents with 3+ instances of STOPP/START PIP being 1.66 times more likely (95% CI 1.56-1.77) to have probable delirium compared to those with no instances of PIP. Similar findings were observed when PIP was measured using the Beers criteria. Central nervous system (CNS)-related PIP criteria showed a stronger association with probable delirium than non-CNS-related PIP criteria. CONCLUSIONS AND IMPLICATIONS: This population-based study highlighted that PIP was highly prevalent in long-term care residents and was associated with an increased prevalence of probable delirium.

Parotid fistula complicating postauricular basal cell carcinoma excision.

Parotid fistulas after cutaneous surgery are a rare occurrence. To our knowledge there have been no cases reported of a parotid fistula occurring in the postauricular region. We present a case complicating a postauricular basal cell carcinoma excision and further discuss this rare but important complication of cutaneous facial surgery.

Probable Delirium and Associated Patient Characteristics in Long-Term Care and Complex Continuing Care: A Population-Based Observational Study.

OBJECTIVES: To estimate the prevalence of probable delirium in long-term care (LTC) and complex continuing care (CCC) settings and to describe the resident characteristics associated with probable delirium. DESIGN: Population-based cross-sectional study using routinely collected administrative health data. SETTING AND PARTICIPANTS: All LTC and CCC residents in Ontario, Canada, assessed with the Resident Assessment Instrument-Minimum Dataset (RAI-MDS) assessment between July 1, 2016, and December 31, 2016 (LTC n=86,454, CCC n=10,217). METHODS: Probable delirium was identified via the delirium Clinical Assessment Protocol on the RAI-MDS assessment, which is triggered when individuals display at least 1 of 6 delirium symptoms that are of recent onset and different from their usual functioning. RAI-MDS assessments were linked to demographic and health services utilization databases to ascertain resident demographics and health status. Multivariable logistic regression was used to identify characteristics associated with probable delirium, with adjusted odds ratios (ORs) and 95% confidence intervals (CIs) reported. RESULTS: Delirium was probable in 3.6% of LTC residents and 16.5% of CCC patients. LTC patients displayed fewer delirium symptoms than CCC patients. The most common delirium symptom in LTC was periods of lethargy (44.6% of delirium cases); in CCC, it was mental function varying over the course of the day (63.5% of delirium cases). The odds of probable delirium varied across individual demographics and health characteristics, with increased health instability having the strongest association with the outcome in both care settings (LTC: OR 30.4, 95% CI 26.2-35.3; CCC: OR 21.0, 95% CI 16.7-26.5 for high vs low instability). CONCLUSIONS AND IMPLICATIONS: There were differences in the presentation and burden of delirium symptoms between LTC and CCC, potentially reflecting differences in delirium severity or symptom identification. Several risk factors for probable delirium in LTC and CCC were identified that may be amenable to interventions to prevent this highly distressing condition.

Understanding smoking cessation in rural communities.

CONTEXT: Rural communities are adversely impacted by increased rates of tobacco use. Rural residents may be exposed to unique communal norms and other factors that influence smoking cessation. PURPOSE: This study explored facilitating factors and barriers to cessation and the role of rural health care systems in the smoking-cessation process. METHODS: Focus groups were conducted with smokers (N = 63) in 7 Midwestern rural communities. Qualitative analysis and thematic coding of transcripts was conducted. FINDINGS: Three levels of pertinent themes--intrinsic, health-system resource, and community/social factors--were identified. Intrinsic factors facilitating cessation included willingness to try various cessation methods, beliefs about consequences of continuing smoking (eg, smoking-related illnesses), and benefits of quitting (eg, saving money). Intrinsic barriers included skepticism about resources, low self-efficacy and motivation for smoking cessation, concern about negative consequences of quitting (eg, weight gain), and perceived benefits of continued smoking (eg, enjoyment). Key health-system resource facilitators were pharmacotherapy use and physician visits. Resource barriers included infrequent physician visits, lack of medical/financial resources, limited local smoking-cessation programs, and lack of knowledge of existing resources. In terms of community/social factors, participants acknowledged the negative social impact/image of smoking, but also cited a lack of alternative activities, few public restrictions, stressors, and exposure to other smokers as barriers to cessation. CONCLUSIONS: Smokers in rural communities face significant challenges that must be addressed. A multilevel model centered on improving access to health care system resources while addressing intrinsic and community/social factors might enhance smoking-cessation interventions and programs in rural communities.

Long-term engagement in smoking cessation counseling among rural smokers.

INTRODUCTION: Effective smoking cessation treatment requires active patient engagement. This may be particularly important for rural smokers who have less access to smoking cessation resources than others. This study describes long-term engagement in counseling for smoking cessation and factors associated with engagement. METHODS: As part of a randomized trial, 231 rural smokers received up to 6 telephone-based counseling sessions at 6-month intervals over 24 months. Engagement in treatment was categorized according to the number of counseling calls each interval. During the final 6-month interval, more than 60% of continuing smokers remained engaged in treatment. Call completion varied over time; while levels of engagement dropped after the first interval, many continuing smokers remained engaged throughout the study. Education, age, motivation, income, diabetes, and health insurance status were predictors of treatment engagement. CONCLUSION: This study demonstrates that smokers will remain engaged in long-term counseling designed to address the chronic nature of nicotine dependence.

Prognosticating with the Hospitalized Patient 1-year Mortality Risk Score Using Information Abstracted from the Medical Record.

BACKGROUND: Predicting death risk in patients with diverse conditions is difficult. The Hospitalized-patient One-year Mortality Risk (HOMR) score accurately determines death risk in adults admitted to hospital using health administrative data unavailable to clinicians and most researchers. OBJECTIVE: Determine if HOMR is valid when calculated using data abstracted directly from the medical record. DESIGN: Medical record review linked to population-based administrative data. PARTICIPANTS: 4996 adults admitted in 2011 to a nonpsychiatric service at a tertiary hospital. MAIN MEASURES: From the chart, we abstracted information required to calculate the HOMR score and linked to population-based mortality data to determine vital status within 1 year of admission date. KEY RESULTS: Patients had a mean age of 55.6 (standard deviation [SD], 20.7) with 563 (11.3%) dying. The mean chart HOMR score was 22 (SD, 12) and significantly predicted death risk; a 1-point increase in HOMR increased death odds by 19% (odds ratio, 1.192;, 95% confidence interval [CI], 1.175-1.210;, P < 0.0001). Chart HOMR was strongly discriminative ( C statistic 0.888) and well calibrated (Hosmer-Lemeshow goodness-of-fit test, 12.9; P = 0.11). The observed death risk was strongly associated with expected death risk (calibration slope, 1.02; 95% CI, 0.89-1.16). Notation of delirium or falls on admitting notes or dependence for at least 1 activity of daily living were each associated with 1-year death risk independent of the HOMR score. CONCLUSIONS: One-year mortality risk can be accurately determined in adults admitted to hospital with the HOMR score calculated using information abstracted from the medical record. Patient functional status was independently associated with death risk. Journal of Hospital Medicine 2017;12:224-230.

Botulinum toxin A injection for chronic anal fissures and anal sphincter spasm improves quality of life in recessive dystrophic epidermolysis bullosa.

We report a 20-year-old female with generalized, severe, recessive dystrophic epidermolysis bullosa who developed secondary chronic anal fissures. This resulted in anal sphincter spasm and severe, disabling pain. She was treated with five botulinum toxin A injections into the internal anal sphincter over a period of 2 years and gained marked improvement in her symptoms. This case demonstrates the successful use of botulinum toxin A injections to relieve anal sphincter spasm and fissuring, with long-term improvement.

Cognitive impairment, physical disability and depressive symptoms in older diabetic patients: the Fremantle Cognition in Diabetes Study.

OBJECTIVE: To determine whether the prevalence of dementia, depression and/or disability in older diabetic subjects warrants an active screening approach by diabetes health care workers. PATIENTS AND METHODS: The initial 223 members of a cohort of 529 eligible diabetic subjects, aged 70 years or over, were screened for cognitive impairment (using the Mini-Mental State Examination (MMSE) and Informant Questionnaire for Cognitive Decline in the Elderly (IQCODE)), physical impairments and depressive symptoms. RESULTS: Virtually all subjects were community-dwelling (99%) and mobile (86%) and relatively few had moderate or severe deficits in activities of daily living (ADL) (17.5%). The prevalences of cognitive impairment and probable dementia estimated from the screening tests were high (range 10.8-17.5%) compared with population studies. Any deficit with ADL was reported by 53% of the subjects and common problems included urinary and faecal incontinence. Scores consistent with clinical depression were reported by 14.2% of the sample but 50.2% of the remainder reported one or more depressive symptoms below the cut-off point for clinical depression. Only 36% of the study subjects were free of deficits in any domain. CONCLUSIONS: Community-living older diabetic subjects have high rates of cognitive impairment, deficits in physical function and depressive symptomatology suggesting that screening programs for functional impairments and depression may be beneficial in health care systems that manage older diabetic patients.

Evaluation of a hospital-based tobacco treatment service: outcomes and lessons learned.

BACKGROUND: The efficacy of smoking cessation interventions for hospital patients has been well described, but we know little regarding implementation and outcomes of real-world programs. OBJECTIVE: To describe the services provided and outcomes of an academic medical center-based tobacco treatment service (UKanQuit) located in the Midwestern United States. METHOD: This is a descriptive observational study. Both quantitative and qualitative data of all patients treated by UKanQuit over a 1-year period were analyzed. RESULTS: Among 513 patients served, average interest in quitting was 7.9, standard deviation (SD) 2.9 on a scale of 0 to 10. More than 1 in 4 had been given an in-hospital medication to ameliorate withdrawal prior to seeing a counselor. Counselors recommended medication changes for 1 in 3 patients, helped 73% set a goal for quitting or reducing tobacco use, and fax referred 56% to quitlines. Six-month follow-up (response rate, 46%) found a 7-day abstinence rate of 32% among respondents for an intent-to-treat abstinence rate of 15%. Post-discharge, 74% made at least one serious quit attempt, 34% had used a quit smoking medication, but only 5% of those referred to the quitline reported using it. CONCLUSIONS: In a hospital setting, interest in quitting is high among smokers who requested to see a tobacco counselor but administration of inpatient medications remains low. Many smokers are making unassisted quit attempts post-discharge because utilization of cessation medications and quitline counseling were low. Fax-referral to quitline may not, on its own, fulfill guideline recommendations for post-discharge follow-up.

PYODERMA VEGETANS WITH lg A DEFICIENCY.

A 41-year-old male with known congenital IgA deficiency developed pyoderma vegetans during a subtropical holiday. He responded well to topical treatment with aluminium subacetate.