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1.
J Adolesc Health ; 2024 Feb 09.
Artigo em Inglês | MEDLINE | ID: mdl-38340124

RESUMO

PURPOSE: Cross-sectional studies have identified a strong link between interpersonal minority stress and mental health among transgender youth. However, very little is known about how experiences of minority stress change over time and how these changes relate to mental health. Further, few quantitative studies have examined the extent to which changes in gender dysphoria drive the improvements witnessed in mental health following gender-affirming medical treatment. METHODS: Transgender youth (N = 115; age 12-18) completed measures of interpersonal minority stress (e.g., family and peer support, parent support of gender, victimization), body dissatisfaction, and mental health (e.g., depression, anxiety, psychosocial functioning) at baseline and one year after initiating medical treatment with a multidisciplinary gender-affirming program. RESULTS: Significant reductions in body dissatisfaction, victimization, depression, and anxiety were found along with improvements in parent gender-related nonaffirmation and psychosocial functioning. Higher levels of baseline family support, parent gender-related acceptance, and lower levels of baseline victimization were associated with better mental health at one-year follow-up. Reductions in body dissatisfaction were also associated with fewer symptoms of depression and better psychosocial functioning and follow-up. DISCUSSION: Results provide further confirmation of the broad, short-term benefits of gender-affirming hormone therapy and highlight the importance of monitoring youth's experience of dysphoria while receiving treatment. Results also continue to highlight the importance of family support and suggest some forms of minority stress improve over time; however, the relationship between short-term changes in minority stress and mental health may be more complex.

2.
Arch Dermatol Res ; 315(2): 291-294, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-35852624

RESUMO

Feedback is an important aspect of resident education, so understanding the challenges that attendings face in giving feedback is important. To determine dermatology attendings' different perspectives on providing feedback to trainees and what barriers may exist in this process, an online survey study was emailed to members of the Association of Professors of Dermatology (APD) via its listserv; response was voluntary. Participants were dermatologists who are members of the Association of Professors of Dermatology. The main outcome measures were responses to survey questions that indicated comfort with feedback, perceived importance of feedback, and barriers to providing feedback. Of the 68 total survey respondents, 43(63%) were female and 25(37%) male. A majority of the attendings agreed that feedback has a positive influence on residents and improves patient outcomes. Many respondents reported giving regular feedback but a majority did not feel comfortable doing so with all residents in the program. Barriers to providing feedback included sensitivity on the part of the residents, lack of time, and fear of retaliation. When asked about ways to increase comfort, 12(17.6%) dermatology faculty noted that nothing would improve their ability to provide feedback while 28(41.2%) demonstrated interest in specialized training sessions. These results suggest that a majority of dermatology faculty face challenges in providing feedback to all of their trainees. Many would attend specialized trainings and have scheduled feedback sessions as part of the residency training to make both residents and attendings more comfortable with the whole process.


Assuntos
Dermatologia , Internato e Residência , Humanos , Masculino , Feminino , Retroalimentação , Dermatologia/educação , Inquéritos e Questionários , Docentes
3.
Am J Med Genet A ; 188(10): 2908-2919, 2022 10.
Artigo em Inglês | MEDLINE | ID: mdl-35856138

RESUMO

ECHS1 gene encodes a mitochondrial enzyme, short-chain enoyl-CoA hydratase (SCEH). SCEH is involved in fatty acid oxidation ([Sharpe and McKenzie (2018); Mitochondrial fatty acid oxidation disorders associated with short-chain enoyl-CoA hydratase (ECHS1) deficiency, 7: 46]) and valine catabolism ([Fong and Schulz (1977); Purification and properties of pig heart crotonase and the presence of short chain and long chain enoyl coenzyme A hydratases in pig and guinea pig tissues, 252: 542-547]; [Wanders et al. (2012); Enzymology of the branched-chain amino acid oxidation disorders: The valine pathway, 35: 5-12]), and the dysfunction of SCEH leads to a severe Leigh or Leigh-like Syndrome phenotype in patients ([Haack et al. (2015); Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement, 2: 492-509]; [Peters et al. (2014); ECHS1 mutations in Leigh disease: A new inborn error of metabolism affecting valine metabolism, 137: 2903-2908]; [Sakai et al. (2015); ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome, 36: 232-239]; [Tetreault et al. (2015); Whole-exome sequencing identifies novel ECHS1 mutations in Leigh, 134: 981-991]). This study aims to further describe the ECHS1 deficiency phenotype using medical history questionnaires and standardized tools assessing quality of life and adaptive skills. Our findings in this largest sample of ECHS1 patients in literature to date (n = 13) illustrate a severely disabling condition causing severe developmental delays (n = 11), regression (n = 10), dystonia/hypotonia and movement disorders (n = 13), commonly with symptom onset in infancy (n = 10), classical MRI findings involving the basal ganglia (n = 11), and variability in biochemical profile. Congruent with the medical history, our patients had significantly low composite and domain scores on Vineland Adaptive Behavior Scales, Third Edition. We believe there is an increasing need for better understanding of ECHS1 deficiency with an aim to support the development of transformative genetic-based therapies, driven by the unmet need for therapies for patients with this genetic disease.


Assuntos
Doença de Leigh , Qualidade de Vida , Animais , Cardiomiopatias , Enoil-CoA Hidratase , Ácidos Graxos , Cobaias , Doença de Leigh/genética , Erros Inatos do Metabolismo Lipídico , Miopatias Mitocondriais , Proteína Mitocondrial Trifuncional/deficiência , Doenças do Sistema Nervoso , Fenótipo , Rabdomiólise , Valina/metabolismo
4.
Arch Dermatol Res ; 314(7): 705-707, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-33683445

RESUMO

Basal cell carcinoma (BCC) histopathology can differ between original biopsy and wide local excision or Mohs micrographic surgery (MMS). We aimed to analyze the rate of difference in BCC subtypes between the original biopsy and MMS frozen section to determine the rate of histopathological upgrading and also to identify risk factors for upgrading. A single institution, retrospective cohort study of patients with BCC treated with MMS was performed at the University of Texas Southwestern. Screening criteria identified 3235 BCCs. Of these, 1289 tumors were identified as having lower-grade pathology on initial biopsy. 291 (22.6%) of the lower-grade pathology tumors were upgraded to a higher-grade pathology. Tumors with an upgraded pathology had significantly greater number of stages performed [mean of 2.5 vs 2.3, p < 0.001], pre-operative size [median of 1.0 cm vs 0.8 cm, p < 0.001], and post-operative size [median of 2.0 cm vs 1.7 cm, p < 0.001]. These tumors were significantly more likely to require more advanced repairs [36.8% (107/291) vs 29.8% (297/998), p = 0.03] and be referred for post-operative radiation [1.7% (5/291) vs 0.0% (0/998), p < 0.001]. In addition, there were a significantly greater number of tumors considered recurrent (received prior surgical or non-surgical treatment) in the upgraded pathology group [8.6% (25/291) vs 3.9% (39/998), p < 0.01]. Our study highlights that a significant proportion of these patients are under-graded on initial biopsy and would benefit from more definitive intervention, such as MMS.


Assuntos
Carcinoma Basocelular , Neoplasias Cutâneas , Carcinoma Basocelular/epidemiologia , Carcinoma Basocelular/patologia , Carcinoma Basocelular/cirurgia , Humanos , Cirurgia de Mohs , Recidiva Local de Neoplasia/diagnóstico , Estudos Retrospectivos , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/cirurgia
5.
Dermatol Online J ; 27(8)2021 Aug 15.
Artigo em Inglês | MEDLINE | ID: mdl-34755966

RESUMO

Renal cell carcinoma (RCC) is the most lethal urological tumor, often because it is widely metastasized at the time of diagnosis. There are reports of cutaneous metastases, most commonly to the head and neck, presenting late after RCC is diagnosed. This case presentation explores a 45-year old female patient with a growing skin lesion on her chin, previously treated as an epidermoid cyst before presenting to dermatology clinic. We present a case of cutaneous metastatic clear cell renal cell carcinoma presenting 7 years after initial diagnosis.


Assuntos
Carcinoma de Células Renais/secundário , Neoplasias Renais/patologia , Neoplasias Cutâneas/secundário , Carcinoma de Células Renais/patologia , Carcinoma de Células Renais/cirurgia , Feminino , Humanos , Margens de Excisão , Pessoa de Meia-Idade , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/cirurgia
6.
Postgrad Med J ; 96(1141): 655-659, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32595112

RESUMO

OBJECTIVES: An increasing percentage of the US population is obese. Cardiometabolic risk in the population increases with body mass index (BMI), but whether this correlation changes over time is unknown. We analysed the National Health and Nutrition Examination Survey (NHANES) database from 1999 to 2016 to determine if the prevalence of cardiometabolic disease and cardiovascular events within each BMI category is changing over time as the BMI of the population is increasing. STUDY DESIGN: For each of the nine survey cycles covering this period, we divided the population by BMI category (normal, overweight, class 1 obesity, class ≥2 obesity) and subsequently by the presence of cardiovascular events or cardiometabolic disease. NHANES participants are a group of 5000 individuals/cycle selected to be representative of the US population. We used the weighted data sets to perform trend analyses for each risk/BMI group adjusted for relevant confounders. RESULTS: The distribution of the highest risk category (cardiovascular event) has not changed over time within any BMI category. The distribution of the lowest risk category (cardiometabolically healthy) increased significantly over time in all BMI categories. This was noted in the 18- to 45-year subgroup but not in the group aged >45 years. CONCLUSIONS: The increase in the prevalence of overweight and obese individuals might be associated with a 'healthy obesity' phenotype in those <45 years; however, individuals >45 years showed a proportional increase in associated cardiometabolic risk.


Assuntos
Doenças Cardiovasculares , Obesidade , Adulto , Distribuição por Idade , Índice de Massa Corporal , Fatores de Risco Cardiometabólico , Doenças Cardiovasculares/diagnóstico , Doenças Cardiovasculares/epidemiologia , Diabetes Mellitus/epidemiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Inquéritos Nutricionais/estatística & dados numéricos , Obesidade/diagnóstico , Obesidade/epidemiologia , Sobrepeso/diagnóstico , Sobrepeso/epidemiologia , Prevalência , Medição de Risco/métodos , Medição de Risco/tendências , Índice de Gravidade de Doença
7.
Int J Womens Dermatol ; 6(5): 365-367, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33898699

RESUMO

In 1982, oral isotretinoin was first licensed as a treatment option for severe recalcitrant cystic acne in the United States. Since its introduction into the pharmaceutical market, several instances of amenorrhea in women of child-bearing age taking isotretinoin have been reported. In each documented instance, amenorrhea spontaneously resolved once the medication was discontinued. The Patient Introductory Brochure for iPLEDGE, the risk management distribution program mandated by the U.S. Food and Drug Administration for isotretinoin, does not currently include menstrual irregularities as a side effect of treatment; thus, patients who experience this side effect may also experience the unnecessary stress of a possible pregnancy, or, if a minor, explaining a lack of menses to their parent/guardian. This review synthesizes the limited literature available on this subject to advocate for more widespread acknowledgment of menstrual irregularities as a side effect of isotretinoin therapy. To perform the literature review, the search was conducted on June 13, 2020 on PubMed using the following search terms: (((isotretinoin) AND (oligomenorrhea))) OR ((isotretinoin) AND (amenorrhea)) OR ((isotretinoin) AND (PCOS)) OR ((isotretinoin) AND (menstrual irregularities)) OR ((isotretinoin) AND (polycystic ovary syndrome)). All years available were included. Articles were excluded if they were not published in English or did not address the topic of menstrual irregularities in the setting of isotretinoin, with or without the presence of polycystic ovary syndrome. A total of six articles met our criteria and are described.

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