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5. Genetic factors associated with hidradenitis suppurativa, a literature review

Author

Shannon M. Eble, MS, Oliver J. Wisco, DO, FAAD, FACMS, Luigi Boccuto, MD, Brian Laffin, PhD, Veronica G. Parker, PhD, Nicole J. Davis, PhD, APRN, AGPCNP-BC, GNP-BC, and Heide S. Temples, PhD, APRN, PPCNP-BC, IBCLC

Subjects
Dermatology, RL1-803
Abstract

Background:. Hidradenitis suppurativa (HS) is a chronic inflammatory disease characterized by deep-seated, painful lesions most frequently occurring in intertriginous areas of the skin. HS leads to poor quality of life in affected individuals and is difficult to diagnose and treat. Objective:. Understanding the genetics associated with familial inheritance may lead to a better understanding of the pathogenesis of this debilitating disease. Methods:. Articles published until March 9, 2023, were identified in PubMed using the following search terms: hidradenitis suppurativa and gene* or acne inversa and gene*. Results:. The rate of monogenic mutations associated with HS is less than 7%, with the most common genetic mutations reported in sporadic and familial HS cases being in NCSTN and less frequently in PSENEN. Individuals with mutations in the gamma-secretase complex tended to have more severe HS and an early age of onset. Limitations:. This study was limited to the case studies available in PubMed, the majority of which used targeted gene panels to detect genetic mutations. Conclusion:. Approximately 30% of individuals diagnosed with HS report having a positive family history; however, very few studies demonstrate monogenic familial transmission of HS. The case studies of syndromic HS reported a variety of genetic mutations associated with HS, some of which were familial, while others were sporadic, suggesting that other pathways may be involved in the pathogenesis of HS and other potential mutations that have yet to be evaluated. More research is needed to understand the genetic mutations in HS.

Published
2024
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6. ARID1B-related disorder in 87 adults: Natural history and self-sustainability

Author

van der Sluijs, P.J., Gösgens, M., Dingemans, A.J.M., Striano, P., Riva, A., Mignot, C., Faudet, A., Vasileiou, G., Walther, M., Schrier Vergano, S.A., Alders, M., Alkuraya, F.S., Alorainy, I., Alsaif, H.S., Anderlid, B., Bache, I., van Beek, I., Blanluet, M., van Bon, B.W., Brunet, T., Brunner, H., Carriero, M.L., Charles, P., Chatron, N., Coccia, E., Dubourg, C., Earl, R.K., Eichler, E.E., Faivre, L., Foulds, N., Graziano, C., Guerrot, A.M., Hashem, M.O., Heide, S., Heron, D., Hickey, S.E., Hopman, S.M.J., Kattentidt-Mouravieva, A., Kerkhof, J., Klein Wassink-Ruiter, J.S., Kurtz-Nelson, E.C., Kušíková, K., Kvarnung, M., Lecoquierre, F., Leszinski, G.S., Loberti, L., Magoulas, P.L., Mari, F., Maystadt, I., Merla, G., Milunsky, J.M., Moortgat, S., Nicolas, G., Leary, M.O.’, Odent, S., Ozmore, J.R., Parbhoo, K., Pfundt, R., Piccione, M., Pinto, A.M., Popp, B., Putoux, A., Rehm, H.L., Reis, A., Renieri, A., Rosenfeld, J.A., Rossi, M., Salzano, E., Saugier-Veber, P., Seri, M., Severi, G., Sonmez, F.M., Strobl-Wildemann, G., Stuurman, K.E., Uctepe, E., Van Esch, H., Vitetta, G., de Vries, B.B.A., Wahl, D., Wang, T., Zacher, P., Heitink, K.R., Ropers, F.G., Steenbeek, D., Rybak, T., and Santen, G.W.E.

Published
2024
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14. Early Education Suspension and Expulsion: Newly Released AAP Policy Guidelines.

Author

Handley, Erika and Temples, Heide S.

Abstract

• Identification of risk factors for behavioral problems in children is discussed. • Identification of risk factors for expulsion are discussed. • Legislation and policy changes are necessary to prevent expulsion from early education centers. • Plans of care should be distributed to family, caregivers, and educators. • Understanding children's needs, preferences, capabilities, and routines is necessary. • Mental health support for children, families, and educators is important to the success of children. Childcare and early educational programs provide children with the opportunities to learn and develop social skills prior to being introduced into the academic system. Suspension and expulsion from childcare and early education programs occur in high numbers and can cause life-long detrimental effects for children. Federal and state legislation has made advances over the years, but further development and implementation of universal policies are needed in order to reduce the number of young children being suspended and expelled. Pediatric nurse practitioners have a unique role in screening, identifying, and intervening when children are at risk or have experienced exclusionary discipline tracts. [ABSTRACT FROM AUTHOR]

Published
2025
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23. Secondhand Smoke Exposure in Pediatric Patients: What Is the Nurse Practitioner's Role?

Author

Vevon, Bailey and Temples, Heide S.

Abstract

• Secondhand smoke exposure (SHSe) has harmful effects on the human body. • It is recommended that parent(s) be screened for secondhand smoke exposure at every office visit. • Screening for environmental smoke is recommended at every office visit. • Tobacco cessation resources are provided for parent(s) who are tobacco-dependent. [ABSTRACT FROM AUTHOR]

Published
2024
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28. Adult Education Literacy Instruction: A Review of the Research

Author

National Institute for Literacy, Kruidenier, John R., MacArthur, Charles A., and Wrigley, Heide S.

Abstract

The Adult Literacy Research Working Group (ALRWG), a panel of experts on adult reading research and practice, was established by the National Institute for Literacy (NIFL) in collaboration with the National Center for the Study of Adult Learning and Literacy (NCSALL). It was part of the Institute's efforts to provide educators, parents and others with access to scientifically based reading research, including research-based tools for improving literacy programs and policies for children, youth and adults, through the Partnership for Reading. The purpose of the ALRWG was to identify and evaluate existing research related to adult literacy reading instruction in order to provide the field with research-based products including principles and practices for practitioners. This document is a follow-up to the original review of Adult Education (AE) reading instruction research, "Research-Based Principles for Adult Basic Education Reading Instruction Research." It presents findings from an analysis of the AE reading instruction research base and is designed as a resource for practitioners and reading researchers. It focuses on "findings" that can be derived from the research and their application in AE settings. (Contains 2 tables.) [For the appendix to this report, "Adult Education Literacy Instruction: Appendix--Tables of Studies Included in the Review," see ED521236. For the original review, "Research-Based Principles for Adult Basic Education Reading Instruction," see ED472427.]

Published
2010

34. Obésités rares

Author

Mosbah, H., primary, Faucher, P., additional, Heide, S., additional, Dubern, B., additional, Clément, K., additional, and Poitou, C., additional

Published
2021
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38. Electron conduction within Landau level tails of medium-mobility GaAs / AlGaAs heterostructures

Author

Svoboda, P., Nachtwei, G., Breitlow, C., Heide, S., and Cukr, M.

Subjects
Condensed Matter - Mesoscale and Nanoscale Physics
Abstract

The temperature dependence of both components of the resistivity tensor $\varrho_{xx}(T)$ and $\varrho_{xy}(T)$ has been studied at T $\geq$ 4.2 K within IQHE plateaux around filling factors \nu=2 and \nu=4 of medium- -mobility GaAs/AlGaAs heterostructures. In the middle of the mobility gap standard activated conductivity has been found with activation energies $\Delta $ scaling well with $\hbar\omega_{c} / 2$ . At filling factors slightly below $\nu$=2 another contribution adds to the activated conductivity at T $\leq$ 12 K. This additional contribution can be further enhanced at higher mesuring d.c. currents.We suggest, that it arises due to enhanced electric field assisted tunneling across potential barriers separating localized states within the bulk of the sample.This effect contributes to the backscattering across the sample leading to an enhanced longitudinal conductivity. The additional contribution to $\sigma_{xx}(T)$ can be reasonably well fitted to the formula for the variable range hopping in strong magnetic fields indicating that the hopping can persist even at temperatures well above 4.2K., Comment: 15 pages, LaTeX, 9 postscript figures; accepted for publication in Semiconductor Science & Technology

Published
1996
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48. Pregnant and Parenting Women's Experiences with Substance Use Disorder

Author

Olivia Chafe, Carla Lautenschlager, Emily Shores, Mary Ellen Wright, Rebekkah Lannamann, and Heide S. Temples

Subjects
Substance-Related Disorders, Health Personnel, Mothers, Stigma (botany), Pharmacology (nursing), Interviews as Topic, Social support, Qualitative analysis, Pregnancy, Maternity and Midwifery, Health care, medicine, Humans, Child, Qualitative Research, Parenting, business.industry, Social Support, medicine.disease, Substance abuse, Female, Pregnant Women, Thematic analysis, Substance use, Psychology, business, Inclusion (education), Clinical psychology
Abstract

PURPOSE The purpose of the study was to describe and analyze the experience of women with substance use disorder during pregnancy and parenting to inform health care services that promote recovery. STUDY DESIGN Interviews of pregnant or parenting women with substance use disorder were used in this qualitative descriptive study. METHODS Participants were recruited from two recovery centers serving pregnant or parenting women with substance use disorder. Participants called a study cellphone to speak with the researchers about their substance use and recovery. Four independent reviewers conducted thematic analysis and were facilitated by Atlas.ti qualitative analysis program. RESULTS N = 15 women called the study cellphone; 10 met inclusion criteria and were interviewed. Researchers coded 81 themes with the common occurrence of prior trauma, multiple substances used, stigma and judgment from others, and having children as a motivation to seeking recovery. Co-occurrence of themes of positive social support and the pursuit of recovery was identified. CLINICAL IMPLICATIONS Positive social support co-occurring with recovery supports the need for strengthened social support structures. Health care professionals should intentionally address the culture of caring for pregnant and parenting women with substance use disorder through education, practice, advocacy, and research.

Published
2021
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49. Obesity in Adolescents: Prevention and Treatment to Change Their Future

Author

Kayla McManus and Heide S. Temples

Subjects
Advanced and Specialized Nursing, Gerontology, business.industry, Physical activity, 030204 cardiovascular system & hematology, Overweight, medicine.disease, Obesity, 03 medical and health sciences, 0302 clinical medicine, medicine, 030212 general & internal medicine, medicine.symptom, business
Abstract

The rates of adolescents with obesity continue to climb at alarming rates, contributing to current and future metabolic, physiological, and psychological problems. Careful screening and assessment by providers using growth charts is crucial to prevent obesity in adolescence. Consistent education on nutrition and physical activity, as well as expected changes, helps to prevent obesity from occurring. Once an adolescent is diagnosed with obesity, providers seek assistance from multiple disciplines to develop a team approach to achieve specific and individualized goals for each patient and family. Tools for screening, prevention, diagnosing, and treating obesity in adolescents ensure optimal results.

Published
2021
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