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1.
Skinmed ; 21(5): 366-369, 2023.
Article in English | MEDLINE | ID: mdl-37945367

ABSTRACT

A 36-year-old woman presented to the emergency department with a 1-day history of purulent perianal and vulvar discharge. She had a 25-year history of Crohn's disease (CD), and 13 years prior had received a total colectomy with end ileostomy. She had vulvar biopsies 5 years prior to presentation, demonstrating noncaseating granulomas consistent with metastatic Crohn's disease (MCD). Throughout the course of her disease, she had a failed treatment with adalimumab, certolizumab, methotrexate, and 6-mercaptopurine. She had received a radical vulvectomy 1 year prior to presenting to control recurrent vulvar abscesses and MCD while receiving monthly subcutaneous infliximab 10 mg/kg body weight. Dermatology was consulted at presentation, and the physical examination revealed tender, linear ulcerations with a granulated appearance and depigmentation on the natal cleft and vulva (Figures 1 and 2). Computerized tomography (CT) scan of the abdomen and pelvis indicated thickening of soft tissue without evidence of abscesses, fluid collection, or fistulae. Given the distribution and morphology of lesions with a history of biopsy-proven MCD, the patient was diagnosed with a flare of MCD.


Subject(s)
Crohn Disease , Neoplasms , Female , Humans , Adult , Crohn Disease/complications , Crohn Disease/diagnosis , Crohn Disease/surgery , Abscess/etiology , Infliximab , Mercaptopurine , Methotrexate , Recurrence
4.
J Child Psychol Psychiatry ; 64(3): 408-416, 2023 03.
Article in English | MEDLINE | ID: mdl-36162806

ABSTRACT

BACKGROUND: Specific pathways of intergenerational transmission of behavioral traits remain unclear. Here, we aim to investigate how parental genetics influence offspring cognition, educational attainment, and psychopathology in youth. METHODS: Participants for the discovery sample were 2,189 offspring (aged 6-14 years), 1898 mothers and 1,017 fathers who underwent genotyping, psychiatric, and cognitive assessments. We calculated polygenic scores (PGS) for cognition, educational attainment, attention-deficit hyperactivity disorder (ADHD), and schizophrenia for the trios. Phenotypes studied included educational and cognitive measures, ADHD and psychotic symptoms. We used a stepwise approach and multiple mediation models to analyze the effect of parental PGS on offspring traits via offspring PGS and parental phenotype. Significant results were replicated in a sample of 1,029 adolescents, 363 mothers, and 307 fathers. RESULTS: Maternal and paternal PGS for cognition influenced offspring general intelligence and executive function via offspring PGS (genetic pathway) and parental education (phenotypic pathway). Similar results were found for parental PGS for educational attainment and offspring reading and writing skills. These pathways fully explained associations between parental PGS and offspring phenotypes, without residual direct association. Associations with maternal, but not paternal, PGS were replicated. No associations were found between parental PGS for psychopathology and offspring specific symptoms. CONCLUSIONS: Our findings indicate that parental genetics influences offspring cognition and educational attainment by genetic and phenotypic pathways, suggesting the expression of parental phenotypes partially explain the association between parental genetic risk and offspring outcomes. Multiple mediations might represent an effective approach to disentangle distinct pathways for intergenerational transmission of behavioral traits.


Subject(s)
Attention Deficit Disorder with Hyperactivity , Parents , Female , Humans , Cognition , Educational Status , Mothers , Attention Deficit Disorder with Hyperactivity/genetics , Phenotype
5.
Skinmed ; 20(3): 197-204, 2022.
Article in English | MEDLINE | ID: mdl-35779025

ABSTRACT

Falls in non-COVID-19-related hospital admissions during the pandemic affected the reasons for dermatology consultation and mode of consultation delivery. In order to assess the impact of the pandemic and the effects of telehealth on the inpatient dermatology service, we compared consultations completed between March 17, 2020 and October 31, 2020 with the same period of 2019. Dermatology received fewer consultations for management assistance during the pandemic, possibly due to patients with chronic dermatoses not meeting admission criteria or avoiding hospitalization. Consultations were also less likely to require laboratory work, imaging, and biopsies in 2020, potentially due to frequent consultation of benign conditions enabled by telehealth and stricter enforcement of only completing the biopsies necessary for acute inpatient management. Despite the shift toward remote consultations in 2020, the impact on diagnosis and management remained unchanged compared to 2019. Providers were less likely to document clinical improvement in 2020, potentially attributable to inferior communication regarding management recommendations or an increase in diagnoses not expected to improve. While remote consultations allowed dermatologists to provide comparable care during the pandemic, further research on clinical outcomes of remote consultations is required to maximize its benefits to patients and the healthcare system. (SKINmed. 2022;20:197-204).


Subject(s)
COVID-19 , Telemedicine , COVID-19/epidemiology , Humans , Inpatients , Referral and Consultation , Retrospective Studies
6.
Urology ; 154: e1-e2, 2021 08.
Article in English | MEDLINE | ID: mdl-34097941

ABSTRACT

A 66-year-old male presented with five days of penile pain and ulceration. The patient had a history of stage 5 chronic kidney disease and repeatedly declined hemodialysis. Wound and urine cultures were unrevealing. CT of the abdomen and pelvis did not reveal any evidence of Fournier's gangrene but identified diffuse severe calcific vasculopathy. Urology and dermatology agreed on the diagnosis of penile calciphylaxis. While diagnosis of calciphylaxis often includes histologic evidence of obstructive vasculopathy, biopsy of penile calciphylaxis is contraindicated due to increased morbidity and mortality. Management focuses wound care and correction of electrolyte abnormalities responsible for calcium deposition.


Subject(s)
Calciphylaxis/diagnosis , Penile Diseases/diagnosis , Aged , Humans , Male
7.
Skinmed ; 19(6): 438-439, 2021.
Article in English | MEDLINE | ID: mdl-35022115

ABSTRACT

Psoriasis is a chronic skin condition that can affect any part of the body, is often present in visible areas, and may occasionally be difficult to treat. Psoriasis can lead to depression and decreased quality of life. We performed a qualitative survey to examine patient perspectives on how psoriasis impacts their lives. Patients with psoriasis are vulnerable to embarrassment and stigmatization in public spaces, as well as discrimination at work, school, or in society. Further studies are needed to determine the best interventions for improving the quality of life in this patient population.


Subject(s)
Psoriasis , Quality of Life , Humans , Stereotyping , Surveys and Questionnaires
8.
Nicotine Tob Res ; 22(8): 1310-1315, 2020 07 16.
Article in English | MEDLINE | ID: mdl-31930296

ABSTRACT

INTRODUCTION: Smoking is a leading cause of death, and genetic variation contributes to smoking behaviors. Identifying genes and sets of genes that contribute to risk for addiction is necessary to prioritize targets for functional characterization and for personalized medicine. METHODS: We performed a gene set-based association and heritable enrichment study of two addiction-related gene sets, those on the Smokescreen Genotyping Array and the nicotinic acetylcholine receptors, using the largest available GWAS summary statistics. We assessed smoking initiation, cigarettes per day, smoking cessation, and age of smoking initiation. RESULTS: Individual genes within each gene set were significantly associated with smoking behaviors. Both sets of genes were significantly associated with cigarettes per day, smoking initiation, and smoking cessation. Age of initiation was only associated with the Smokescreen gene set. Although both sets of genes were enriched for trait heritability, each accounts for only a small proportion of the single nucleotide polymorphism-based heritability (2%-12%). CONCLUSIONS: These two gene sets are associated with smoking behaviors, but collectively account for a limited amount of the genetic and phenotypic variation of these complex traits, consistent with high polygenicity. IMPLICATIONS: We evaluated evidence for the association and heritable contribution of expert-curated and bioinformatically identified sets of genes related to smoking. Although they impact smoking behaviors, these specifically targeted genes do not account for much of the heritability in smoking and will be of limited use for predictive purposes. Advanced genome-wide approaches and integration of other 'omics data will be needed to fully account for the genetic variation in smoking phenotypes.


Subject(s)
Behavior, Addictive/genetics , Genetic Markers , Genome-Wide Association Study , Polymorphism, Single Nucleotide , Receptors, Nicotinic/genetics , Smoking/genetics , Age of Onset , Behavior, Addictive/epidemiology , Behavior, Addictive/psychology , Colorado/epidemiology , Humans , Phenotype , Smoking/epidemiology , Smoking/psychology
9.
Skinmed ; 17(3): 211-214, 2019.
Article in English | MEDLINE | ID: mdl-31496481

ABSTRACT

A 68-year-old Indian man presented with a pruritic eruption on his neck, back, elbows, knees, and the dorsum of his hands. He was initially treated for possible Lyme's disease by his primary care physician, but without improvement. Then he developed daily chills and fevers up to 101 °F, as well as shortness of breath. A chest radiograph showed patchy airspace opacities suggestive of atypical pneumonia, and the patient was treated with levofloxacin and prednisone. Although prednisone diminished the eruption, the patient continued to experience fever, malaise, and generalized weakness, at which point he was hospitalized. Blood cultures and an antinuclear antibodies (ANA) were negative and extensive lab workup was only notable for an elevated erythrocyte sedimentation rate (ESR) (63 mm/hr, Reference Range 0-22), mild transaminitis (AST 77 U/L, Reference Range 10-40), hyponatremia (131 mEq/L, Reference Range 135-145) and elevated ferritin (440, Reference Range 20-500). The patient was discharged on 20 mg of prednisone, with referral to rheumatology and dermatology for possible autoimmune diseases.


Subject(s)
Autoantibodies/blood , Dermatomyositis/complications , Dermatomyositis/immunology , Interferon-Induced Helicase, IFIH1/immunology , Lung Diseases, Interstitial/complications , Aged , Biopsy , Dermatomyositis/pathology , Humans , Male , Skin/pathology
10.
Skinmed ; 17(6): 367-368, 2019.
Article in English | MEDLINE | ID: mdl-31904324

ABSTRACT

The concept of unconscious bias has recently emerged as a possible contributor to current health disparities. A pilot study was performed to evaluate the presence of unconscious bias in dermatology, which has not yet been thoroughly examined. Our results show that some degree of unconscious bias may be present during clinical decision-making for patients of different skin tones and sex. Additional studies are needed to further characterize the role of unconscious bias in health disparities in dermatology.


Subject(s)
Dermatology/standards , Healthcare Disparities , Prejudice/psychology , Skin Diseases/therapy , Adolescent , Attitude of Health Personnel , Female , Health Status Disparities , Humans , Male , Middle Aged , Pilot Projects , Sex Factors , Skin Pigmentation
12.
Skinmed ; 16(2): 129-131, 2018.
Article in English | MEDLINE | ID: mdl-29911534

ABSTRACT

Dermatology was consulted in the care of a 58-year-old man with a history of paranoid schizophrenia, neuroleptic malignant syndrome, a positive purified protein derivative test, and a lack of bathing for approximately 4 years who had been admitted to the hospital because of thick, crusted lesions over an increasing portion of his body. Admitted involuntarily, he was disinterested in the history, physical examination, and diagnostic testing. Comorbid schizophrenia presented a unique challenge because he was unable to participate in his care effectively. His story was told through caregivers. Although mostly compliant, the patient was reserved and indifferent, and had little to add even with direct questions.


Subject(s)
Neuroleptic Malignant Syndrome/diagnosis , Pemphigus/drug therapy , Pemphigus/pathology , Rituximab/administration & dosage , Schizophrenia, Paranoid/diagnosis , Follow-Up Studies , Humans , Male , Middle Aged , Neglected Diseases , Neuroleptic Malignant Syndrome/complications , Pemphigus/diagnosis , Philadelphia , Risk Assessment , Schizophrenia, Paranoid/complications
13.
Dermatol Online J ; 23(6)2017 Jun 15.
Article in English | MEDLINE | ID: mdl-28633750

ABSTRACT

Cultural competency continues to gain increased attention in medicine. Not only does it play a significant role in the delivery of health care and patient outcomes, but it also remains a major determinant of patient satisfaction. This study investigated how patients in an urban dermatology clinic rated their satisfaction with cultural competency. Compared to White patients, satisfaction scores were greater for Hispanic or Latino patients and less for Asian patients, while there was no significant difference for Black or African American patients. There were clear differences in patient satisfaction rates of various dimensions of cultural competency. A follow-up study with a larger sample size is needed for closer examination into the conclusions.


Subject(s)
Cultural Competency , Dermatology , Patient Satisfaction/ethnology , Ambulatory Care Facilities , Analysis of Variance , Asian , Health Care Surveys , Humans , Philadelphia , Racial Groups , Urban Health Services
15.
Am J Dermatopathol ; 38(1): e1-10, 2016 Jan.
Article in English | MEDLINE | ID: mdl-26730698

ABSTRACT

Lymphomatoid papulosis (LyP) is an uncommon CD30 lymphoproliferative disorder with a relatively excellent prognosis. Ten to twenty percent of cases, however, are associated with a lymphoma, typically systemic or cutaneous anaplastic large cell lymphoma, mycosis fungoides, or Hodgkin lymphoma. Subtypes divide LyP into infiltrate-descriptive categories along a spectrum of histological manifestation. Classically, LyP shows a patchy, wedge-shaped, perivascular dermal infiltrate of small- to intermediate-sized lymphoid cells, larger lymphoid, with one, 2, or multiple prominent nucleoli, and a variable admixture of neutrophils, eosinophils, and histiocytes. Follicular LyP shares these characteristics, although its infiltrate is folliculocentric. Variable folliculotropism, follicular dilation, rupture, and mucinosis can occur. This entity is commonly misdiagnosed and underreporting likely because its histopathologic features can masquerade as more common follicular-based entities. The authors present 2 cases of this rare variant to underscore the importance of clinicopathologic correlation in diagnosis. To the best of the authors' knowledge, this is the first report of the follicular LyP variant with concurrent mycosis fungoides. In the context of a literature review, diagnostic pitfalls and classification of this variant are discussed.


Subject(s)
Folliculitis/diagnosis , Hair Follicle/pathology , Lymphomatoid Papulosis/pathology , Skin Neoplasms/pathology , Child, Preschool , Diagnosis, Differential , Humans , Ki-1 Antigen/analysis , Lymphomatoid Papulosis/metabolism , Male , Skin Neoplasms/chemistry
16.
J Am Board Fam Med ; 26(6): 787-801, 2013.
Article in English | MEDLINE | ID: mdl-24204077

ABSTRACT

Psoriasis vulgaris is a chronic, sometimes debilitating, inflammatory disorder with multiple pathways of pathogenesis that can be associated with metabolic and cardiovascular disease. This article aims to be a comprehensive, literature-based review of the epidemiology, genetic factors, clinical diagnosis, treatments, and pharmacology for psoriasis as derived from articles published in PubMed. Levels of evidence and recommendations were made according to the strength of recommendation taxonomy. This article is divided into 2 sections: the first is clinical and diagnostic, the second is therapeutic. This review serves as a practical, evidence-based, and unbiased guide for primary care practitioners.


Subject(s)
Evidence-Based Medicine/methods , Practice Guidelines as Topic , Primary Health Care/standards , Psoriasis/therapy , Humans
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