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1.
Arch Dermatol Res ; 316(7): 471, 2024 Jul 13.
Article in English | MEDLINE | ID: mdl-39001899

ABSTRACT

Congenital epidermodysplasia verruciformis (CEV) is a Genodermatosis linked to different inheritance patterns and mutations of the EVER1/TMC6 and EVER2/TMC8 genes. There is an acquired form (AEV) associated with immunodeficiency states, including human immunodeficiency virus (HIV) infection; however, the literature about AEV is limited and imprecise, so a systematic review was performed. A search of the main databases from 1975 to 2021 identified 126 studies, of which 80 met the inclusion criteria. The diagnosis of AEV is complex due to atypical manifestations and locations, it requires a mean follow-up of 7 years, and the lesions do not change with ART therapy, CD4 count, or viral load. Histopathological findings are variable depending on the location of the lesions. HPV 5 remains the serotype most frequently associated with AEV and CEV, although HPV 20 is more frequent than HPV 8 in AEV. Most treatments have low efficacy, the most described are glycolic acid 15%, 5-fluorouracil 5%, imiquimod 5%, and topical retinoids all of them in monotherapy or combined with cryotherapy. Other alternatives include topical cidofovir and systemic retinoids with variable results. The oncologic prognosis is still inconclusive; however, the development of squamous cell carcinoma and melanoma are frankly lower concerning CEV. This review opens new opportunities for future research. Additionally, we provide clear and useful key points for the practice of dermatologists and all professionals treating HIV patients around the world.


Subject(s)
Epidermodysplasia Verruciformis , HIV Infections , Humans , Epidermodysplasia Verruciformis/diagnosis , HIV Infections/complications , Imiquimod/therapeutic use , Imiquimod/administration & dosage , Papillomavirus Infections/complications , Papillomavirus Infections/virology , Retinoids/therapeutic use , Cryotherapy , Membrane Proteins
2.
Arch Dermatol Res ; 316(7): 438, 2024 Jun 28.
Article in English | MEDLINE | ID: mdl-38940945

ABSTRACT

Dyskeratosis congenita (DC) is a telomeropathy presenting diagnostic and therapeutic challenges across multiple specialties; yet, subtle dermatological signs enable early detection, altering patient prognosis. A specific DC genetic sequencing was performed according to the clinical criteria of our patient in study. Subsequently, cross-checked information in the main genetic databases was carried out. Additionally, an extensive review of the literature was made to organize the main dermatological aspects in DC. We report a novel variant of DC. Additionally, we share 10 useful and practical messages for dermatologists and any specialist caring for this group of patients.


Subject(s)
Dyskeratosis Congenita , Mutation, Missense , Telomerase , Humans , Dermatologists , Dyskeratosis Congenita/genetics , Dyskeratosis Congenita/diagnosis , Skin/pathology , Telomerase/genetics
3.
J Environ Manage ; 357: 120677, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38565033

ABSTRACT

Attention on the use of transboundary aquifers (TBAs) and their cross-border impacts is growing as countries become increasingly concerned about their long-term water security. Cross-border impacts, in groundwater quality and quantity, tend to concentrate in specific parts of TBAs, as they largely depend on the transboundary flow dynamics where anthropogenic actions operate. Thus, there is a growing consensus that strategies intended to prevent or mitigate such impacts should be implemented in strategic zones rather than in the whole TBA. These transboundary groundwater management zones (TGMZs) are relatively recent but have become a prominent topic in TBA management. However, until now, limited effort has been put into exploring the concept of TGMZs and the methods for their delineation. This research aims to fill these gaps and provide a basis for the delineation of TGMZs, thus helping neighbouring countries meet international responsibilities regarding the right to use and enjoy groundwater in TBAs. By reviewing academic and grey literature accessible from public sources, we present an overview of the concept and terminology of TGMZs, the approaches proposed for their delineation, and current operating examples. Additionally, we build a conceptual framework for assessing cross-border groundwater impacts by identifying their typologies and causal factors. We then apply our framework to evaluate and compare three reported methods which identify and delineate TGMZs from distinct perspectives, thereby gaining insights into their principles, performances, and limitations. Finally, we provide recommendations for further research towards optimising methods for delineating TGMZs.


Subject(s)
Groundwater , Water Pollutants, Chemical , Water Supply , Water Pollutants, Chemical/analysis , Water , Environmental Monitoring/methods
4.
Cytometry B Clin Cytom ; 106(1): 64-73, 2024 01.
Article in English | MEDLINE | ID: mdl-38010106

ABSTRACT

BACKGROUND: The diagnosis of T-cell non-Hodgkin lymphomas (NHL) is challenging. The development of a monoclonal antibody specific for T-cell receptor ß constant region 1 (TRBC1) provides an alternative to discriminate clonal T cells. The aim of this study was to evaluate the diagnostic potential of an anti-TRBC1 mAb for the identification of T-NHL. METHODS: We performed a cross-sectional diagnostic analytic study of samples tested for lymphoma. All samples sent for lymphoma screening were first evaluated using the standard Euroflow LST, to which a second additional custom-designed T-cell clonality assessment tube was added CD45/TRBC1/CD2/CD7/CD4/TCRγδ/CD3. Flow cytometry reports were compared with morphological and molecular tests. RESULTS: Fifty-nine patient samples were evaluated. Within the T-cell population, cut-off percentages in the CD4+ cells were from 29.4 to 54.6% and from 23.9 to 52.1% in CD8+ cells. Cut-off ratios in CD4+ T cells were from 0.33 to 1.1, and in CD8+ cells between 0.22 and 1.0. Using predefined normal cut-off values, 18 of 59 (30.5%) samples showed a restricted expression of TRBC1. A final diagnosis of a T-NHL was confirmed clinically and/or by histopathological studies in 15 of the 18 cases (83.3%). There were no cases of T-NHL by morphology/IHC with normal TRBC1 expression. Non-neoplastic patient samples behaved between predefined TRBC1 cut-off values. CONCLUSIONS: Expression of TRBC1 provides a robust method for T-cell clonality assessment, with very high sensitivity and good correlation with complementary methods. TRBC1 can be integrated into routine lymphoma screening strategies via flow cytometry.


Subject(s)
Lymphoma , Humans , Flow Cytometry/methods , Cross-Sectional Studies , CD4-Positive T-Lymphocytes , Receptors, Antigen, T-Cell, gamma-delta
5.
Cad. Bras. Ter. Ocup ; 32: e3614, 2024.
Article in Spanish | LILACS-Express | LILACS, Index Psychology - journals | ID: biblio-1550159

ABSTRACT

Resumen El presente artículo consta de una revisión bibliográfica que tiene por objetivo describir los distintos factores que influyen en el desarrollo de la sexualidad infantil para comprenderla desde la terapia ocupacional. La problemática planteada aborda la invisibilidad de los componentes naturales y normativos de la sexualidad en la primera y segunda infancia y cómo la terapia ocupacional se aproxima a estos factores en su intervención. Para llevar a cabo esta búsqueda bibliográfica, se utilizaron variadas bases de datos y revistas de terapia ocupacional, con el fin de encontrar textos que tuvieran relación con el objetivo y problemática propuesta, los cuales fueron filtrados de acuerdo a criterios de exclusión e inclusión. De los resultados se obtiene que existe escasa información académica respecto a cómo se relacionan directamente los componentes de la sexualidad infantil con las áreas de trabajo de la terapia ocupacional. Por lo anterior se concluye que la disciplina está recientemente en la incorporación del abordaje de esta temática y se plantea la necesidad urgente de reconstruir la conceptualización de la sexualidad infantil, desde una base de derechos de la niñez y alejándose de la hegemonía de una cultura heteronormada y adultocéntrica. Se consideran los distintos factores que influyen al desarrollo de la sexualidad infantil y entendiéndola no solo como ocupación sino como parte fundamental de la identidad ocupacional, que tiene como componentes la autonomía corporal, el desarrollo socio afectivo, el placer y el disfrute, el género y las elecciones ocupacionales, los cuales guiarían el abordaje de terapia ocupacional.


Resumo O presente artigo consiste em uma revisão bibliográfica que tem como objetivo descrever os diferentes fatores que influenciam o desenvolvimento da sexualidade infantil para compreendê-la a partir da terapia ocupacional. A problemática levantada aborda a invisibilidade dos componentes naturais e normativos da sexualidade na primeira e segunda infâncias e como o terapeuta ocupacional aborda esses fatores em sua intervenção. Para realizar esta busca bibliográfica, foram utilizadas diversas bases de dados e periódicos da área de terapia ocupacional, a fim de encontrar textos que estivessem relacionados ao objetivo e problemática propostos, os quais foram filtrados segundo critérios de exclusão e inclusão. Dos resultados obtém-se que há escassa informação acadêmica a respeito de como os componentes da sexualidade infantil estão diretamente relacionados às áreas de atuação do terapeuta ocupacional. Portanto, conclui-se que a disciplina está incorporando recentemente a abordagem dessa temática e se levanta a urgente necessidade de reconstruir a conceituação da sexualidade infantil, a partir de uma base de direitos da criança e afastando-se da hegemonia de uma cultura heteronormativa adultocêntrica. São considerados os diferentes fatores que influenciam o desenvolvimento da sexualidade infantil, entendendo-a não apenas como uma ocupação, mas também como parte fundamental da identidade ocupacional, cujos componentes são autonomia corporal, desenvolvimento socioafetivo, prazer e gozo, gênero e escolhas ocupacionais, os quais orientariam a abordagem da terapia ocupacional.


Abstract This article consists of a bibliographical review that aims to describe the different factors that influence the development of child sexuality to understand it from Occupational Therapy (OT). The problem raised addresses the invisibility of the natural and normative components of sexuality in early and second childhood and how OT approaches these factors in its intervention. To carry out this bibliographic search, various databases and journals of Occupational Therapy were used, in order to find texts that were related to the objective and proposed problem, which were filtered according to exclusion and inclusion criteria. From the results it is obtained that there is limited academic information regarding how the components of child sexuality are directly related to the areas of work of the OT. From the foregoing, it is concluded that the discipline is recently incorporating the approach to this issue and the urgent need to reconstruct the conceptualization of child sexuality is raised, from a base of children's rights, moving away from the hegemony of a heteronormative culture, and adult centric. The different factors that influence the development of child sexuality are considered, understanding it not only as an occupation but also as a fundamental part of occupational identity, whose components are bodily autonomy, socio-affective development, pleasure and enjoyment, gender and occupational choices, which would guide the occupational therapy approach.

7.
Plast Reconstr Surg Glob Open ; 11(4): e4924, 2023 Apr.
Article in English | MEDLINE | ID: mdl-37063507

ABSTRACT

Radiofrequency is frequently used for skin rejuvenation, localized fat elimination and cellulite treatment. It prompts the expression of thermal shock proteins that lead to dermal thickening as a result of collagen synthesis. The authors report a histological and clinical analysis of the arm subdermal changes before and after bipolar radiofrequency treatment plus liposuction to determine their benefits for arm contouring. Methods: Inclusion criteria included patients with stage 1, 2a, and 2b brachial ptosis (Duncan classification) and upper limb fat deposits who were considered candidates for third-generation ultrasound-assisted liposculpture plus radiofrequency-assisted lipolysis/skin tightening. Arm subdermal tissue samples (5 mm³) were analyzed before and after the intervention. We used 10% formaldehyde for tissue fixation and stained each sample with hematoxylin/eosin, Masson trichrome, and antibody markers against the cell cycle Ki-67 protein. Results: We analyzed a total of 12 biopsies from six patients who meet the inclusion/exclusion criteria. Histological findings with hematoxylin/eosin revealed hyperplastic and metaplastic changes with focal distribution within the papillary and reticular dermis. Masson trichrome staining showed an increase of the characteristic basophilia of thin type-I and type-III collagen fibers. In contrast, molecular analysis reported an increase in fibroblast activity mediated by the activation of the heat shock protein HSP47. Conclusion: Radiofrequency may be a great alternative to improve skin retraction in patients with mild to moderate brachial dermatochalasis through the activation of HSP47 heat shock protein and the production of type-I and type-III collagen.

8.
Cureus ; 15(1): e33864, 2023 Jan.
Article in English | MEDLINE | ID: mdl-36819366

ABSTRACT

Osteogenesis imperfecta (OI) is a hereditary disease of connective tissue characterized by the loss of bone density and mass, which increases the fragility of the bones, thus presenting multiple fractures throughout the years followed by bone deformity and articular instability. This condition has various clinical presentations. We present four cases of OI, one case with type I, two cases with type II, and one case with type III. The clinical diagnosis in most of the cases was clinical; only one of them was confirmed with genomic sequence. The treatment of these cases was based on medication, orthopedic surgery, and recovery and physical therapy. The evolution was torpid in these cases but with prolonged life expectancy despite the severity and type of OI. It is important to highlight that the patients did not have a neurocognitive compromise. Early diagnosis and multidisciplinary medical management are crucial in obtaining better outcomes for this disease, improving the quality of life, and avoiding complications.

9.
J Craniofac Surg ; 31(8): e800-e802, 2020.
Article in English | MEDLINE | ID: mdl-33136916

ABSTRACT

Condylar hyperplasia is an alteration in mandibular growth that can cause facial asymmetry and occlusal changes that usually affect the aesthetics and function of patients. To date, condylectomy for its part remains a key part of the treatment. Although there are still controversies regarding the amount of bone to remove and the surgical approach, there are still other concerns, such as finding the benefit in terms of intraoperative safety and postoperative results with different cutting devices, including the use of piezoelectric, which is increasing its use in the maxillofacial field. This is why the main objective of this study is to compare the results found in medical records and databases of condylectomy procedures performed between 2017 and 2019 with different cutting devices.


Subject(s)
Mandibular Condyle/surgery , Mandibular Osteotomy/instrumentation , Temporomandibular Joint Disorders/surgery , Temporomandibular Joint/surgery , Adolescent , Adult , Child , Facial Asymmetry , Female , Humans , Middle Aged , Young Adult
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