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"Cafes"
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McCune-Albright syndrome and the extraskeletal manifestations of fibrous dysplasia
by
Singer, Frederick R
,
Eugster, Erica
,
Collins, Michael T
in
Acromegaly - complications
,
Acromegaly - diagnosis
,
Acromegaly - drug therapy
2012
Fibrous dysplasia (FD) is sometimes accompanied by extraskeletal manifestations that can include any combination of café-au-lait macules, hyperfunctioning endocrinopathies, such as gonadotropin-independent precocious puberty, hyperthyroidism, growth hormone excess, FGF23-mediated renal phosphate wasting, and/or Cushing syndrome, as well as other less common features. The combination of any of these findings, with or without FD, is known as McCune-Albright syndrome (MAS). The broad spectrum of involved tissues and the unpredictable combination of findings owe to the fact that molecular defect is due to dominant activating mutations in the widely expressed signaling protein, G
s
α, and the fact these mutations arises sporadically, often times early in development, prior to gastrulation, and can distribute across many or few tissues.
The complexity can be mastered by a systematic screening of potentially involved tissues and cognizance that the pattern of involved tissues is established, to some degree, in utero. Thorough testing allows the clinician to establish, often times at presentation, the full extent of the disease, and importantly as well what tissues are unaffected. Treatment and follow-up can then be focused on affected systems and a meaningful prognosis can be offered to the patient and family. The authors outline screening and treatment strategies that allow for effective management of the extraskeletal manifestations of FD.
Journal Article
Characteristics of Skin Lesions Determine the Therapeutic Response of Facial Café Au Lait Macules Laser Therapy
2025
Background The efficacy of laser treatment for facial café au lait macules (CALMs) is random. Aim To compare the response of different characteristics of CALMs skin lesions to laser treatment. Patients/Methods In this single‐center retrospective case series, patients with café au lait macules who received laser treatment between 2015 and 2022 at our clinic were reviewed. A total of 319 consecutive patients were eligible and were treated with either a 755‐nm‐alexandrite picosecond laser or a quality‐switched 755‐nm‐alexandrite laser. Observers were blinded to the final patient groups. Efficacy was graded according to four levels of treatment response: poor (Grade 1, 0%–25% improvement), fair (Grade 2, 26%–50% improvement), good (Grade 3, 51%–75% improvement), and excellent (Grade 4, 76%–100% improvement). Treatment effects evaluated as Grades 2–4 were considered effective. Results Of the 319 patients, excellent and good responses were observed in 80 (25.08%) and 66 (20.69%) cases, respectively. Fifty‐two patients (16.30%) displayed an outcome of Grade 2 (26%–50% improvement), whereas 121 (37.93%) cases showed an outcome of Grade 1 (0%–25% improvement). The overall treatment effective rate (Grades 2–4) was 62.07%. Binary logistic regression analysis showed a significant association of therapeutic efficacy with lesion distribution (segmental vs. non‐segmental CALMs) and lesion border (irregular vs. regular) (p < 0.05 for both). Conclusions Segmental and irregular border CALMs tended to respond well to laser therapy. Clinicians can leverage these characteristics to predict efficacy and manage patient expectations more effectively.
Journal Article
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation
by
Baralle, Diana
,
Lázaro, Conxi
,
Merker, Vanessa L.
in
Biomedical and Life Sciences
,
Biomedicine
,
Brain cancer
2021
By incorporating major developments in genetics, ophthalmology, dermatology, and neuroimaging, to revise the diagnostic criteria for neurofibromatosis type 1 (NF1) and to establish diagnostic criteria for Legius syndrome (LGSS).
We used a multistep process, beginning with a Delphi method involving global experts and subsequently involving non-NF experts, patients, and foundations/patient advocacy groups.
We reached consensus on the minimal clinical and genetic criteria for diagnosing and differentiating NF1 and LGSS, which have phenotypic overlap in young patients with pigmentary findings. Criteria for the mosaic forms of these conditions are also recommended.
The revised criteria for NF1 incorporate new clinical features and genetic testing, whereas the criteria for LGSS were created to differentiate the two conditions. It is likely that continued refinement of these new criteria will be necessary as investigators (1) study the diagnostic properties of the revised criteria, (2) reconsider criteria not included in this process, and (3) identify new clinical and other features of these conditions. For this reason, we propose an initiative to update periodically the diagnostic criteria for NF1 and LGSS.
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Journal Article
Jaffe-Campanacci syndrome; a case series and review of the literature
by
Abolenain, Ahmed Salem
,
Sabry, Ahmed O.
,
Mostafa, Noureldin
in
Adolescent
,
Cafe au lait spots
,
Cafe-au-Lait Spots - diagnosis
2024
Background
Jaffe-Campanacci syndrome is a rare syndrome, characterized by multiple non-ossifying fibromas (NOF) and cafe-au-lait patches. The name was coined in 1982 by Mirra after Jaffe who first described the case in 1958. Although it’s suggested there is a relation with Neurofibromatosis type 1, there is still no consensus on whether Jaffe-Campanacci syndrome is a subtype or variant of neurofibromatosis-1(NF-1).
Case presentation
In this article, we present a case series of 2 patients. The first case is a 13-year-old male with Jaffe-Campanacci syndrome who presented with a distal femur fracture. His father had positive features of both Jaffe-Campanacci syndrome and NF-1, while his sister only had features of NF-1, so we presented both.
Conclusion
Jaffe-Campanacci has a clear relationship with type 1 neurofibromatosis, which still has to be genetically established. Due to the presence of several large non-ossifying fibromas of the long bones, it is linked to a significant risk of pathological fractures. We concur with previous authors, that an osseous screening program should be performed for all patients with newly diagnosed type 1 neurofibromatosis, to identify non-ossifying fibromas and assess the potential for pathological fracture. Moreover, siblings of patients with NF-1 should be screened for multiple NOFs that may carry a high risk of pathological fractures.
Journal Article
Outdoor Terraces in Barcelona and Milan: Configuration of New Spaces for Social Interaction
by
O’Connell, Emma Maev
,
Gomez-Escoda, Eulàlia
,
Clua Uceda, Álvaro
in
Case studies
,
Cities
,
Coronaviruses
2022
This work approaches the phenomenon of the outdoor terraces of bars and restaurants, analysing the role of these privately owned collective elements whose layout has shaped the urban landscape at the pavement level for more than a century, and whose presence has become essential in the streets of many cities after a pandemic. The research highlights the interest of terraces as dynamic elements of urbanity: private domains in the public space where people eat collectively; they are apparently simple units that synthesise complex conflicts between individual behaviours and property boundary conditions. The investigation shows the increasing expansion that outdoor terraces have experienced since 2020, using the cities of Barcelona and Milan as case studies. A series of GIS maps show the image of both cities before and after the pandemic, allowing us to evaluate the amount of public space allocated to terraces, measure their increase in number and surface, establish the proportions of occupation of the street and find the patterns of concentration in the public space. Finally, the article offers some policy and planning recommendations based on the research findings.
Journal Article
162; Creating spaces to share concrete educational practices and experiences for Capacity Building in Migration and Health in Higher Education
by
Razum, Oliver
,
Diaz, Esperanza
,
Suurmond, Jeanine
in
Cafes
,
Capacity building approach
,
Capacity development
2025
WKS 3: Creating spaces to share concrete educational practices and experiences for Capacity Building in Migration and Health in Higher Education, B305 (FCSH), September 3, 2025, 14:30 - 15:30 Background and Objectives Building capacity in migration and health in higher education is key to better, sustainable, and equitable health care provision, but information on how different countries work towards this goal is not easily accessible. In a Lancet publication in 2024, the authors shared perspectives from five European countries to illustrate good examples in higher education and proposed creating further spaces to share concrete educational practices and experiences for adaptation and replication. The objective of this workshop is to?create such space to reflect upon the need to work at various levels and share good practices among several countries worldwide. Workshop Plan We will start the workshop by briefly introducing the theme and sharing some good examples of capacity building from European countries. Thereafter, we will invite the participants to work in groups sharing good national or regional examples and subsequently invite them in a world-cafés format to discuss the examples under thematic areas at four levels: conceptual evolution, policy and implementation, organization at the academic level and teaching materials and pedagogies. Each table will be led by one moderator. Finally, results will be shared in plenary and all participants invited to write a short description of the good example that will be circulated to all participants that agree to that after the workshop. This way, participants have inspiration and concrete tools to use in higher education, which is needed because building capacity on migrant and health is stagnating in many higher education institutions. Main Messages This workshop will create a possibility for learning on-site from each other’s examples, reflect upon the need to advance capacity building at several levels, and get more detailed information of the tools after the conference.
Journal Article
Exotic animal cafes are increasingly home to threatened biodiversity
2021
Exploitation of species for wildlife trade, including the demand for exotic pets (likely sourced from the wild or recent generations of captivity) is a major threat to biodiversity. Although not traditionally considered “pet keeping” countries, pet ownership is growing in Asia. Exotic animals are also appearing in cafes, which are growing in popularity and have the potential to impact wild populations by stimulating exotic pet trade. We identified 406 animal cafes across Asia, of which 27% housed exotic species, including mammals (e.g., otter, slow loris, meerkat), birds (e.g., owls, hawks, parrots), and reptiles (e.g., geckos, pythons, turtles). Of the 252 exotic species recorded, 46% were threatened either as classified by the IUCN Red List, having a decreasing population trend, and/or threatened by the pet trade. These results, alongside the alignment of cafe traits with recognized factors influencing exotic pet trade, demonstrate as yet unclear (but potentially dramatic) implications for conservation.
Journal Article
The absence that makes the difference: choroidal abnormalities in Legius syndrome
2017
Neurofibromatosis type 1 (NF1) is an hereditary disorder characterized by abnormal proliferation of multiple tissues of neural crest origin, and presents mainly with multiple café-au-lait macules, axillary freckling and neurofibromas. Choroidal involvement in NF1 patients has been studied, thanks to the development of non-invasive tools such as infrared monochromatic light during fundus examination, which showed bright patchy lesions consistent with choroidal nodules. Choroidal abnormalities identified with near-infrared reflectance have reported with a frequency of up to 100% in NF1, and have been recently been proposed as a novel diagnostic criterion for NF1. Legius syndrome can be clinically indistinguishable from NF1 and results in a small percentage of individuals being misdiagnosed. We investigated the presence of choroidal abnormalities in Legius syndrome to determine their specificity to NF1 and their potential usefulness as a novel diagnostic criterion for NF1. We examined the fundus of 16 eyes by confocal scanning laser ophthalmoscopy with infrared monochromatic light in eight patients with molecularly confirmed Legius syndrome. No abnormalities were observed, confirming the diagnostic value of choroidal abnormalities for the diagnosis of NF1.
Journal Article
Human–AI Collaboration for Automated Classification of Online Information Sources on Cervical Cancer
2025
Background The landscape of cancer information has expanded across diverse online platforms. However, traditional methods such as manual coding are limited in their ability to efficiently identify information sources in large-scale datasets. This study introduces a novel approach that employs prompt engineering to automatically and thematically classify sources of online information on cervical cancer. Methods We identified 1,877 Korean online communities-referred to as “cafés\"-that provide cervical cancer information. An initial codebook was developed using a zero-shot approach with GPT-4o. Two human coders then reviewed a sample of 500 cafés and iteratively added categories until reaching theoretical saturation, thereby refining the initial codebook. To validate the finalized version, which consisted of twelve categories, a separate sample of 200 cafés was independently coded by two coders (Cohen's kappa = 0.82; 95% CI [0.76-0.88]). We then structured a prompt for the automated classification of the full dataset. Results The prompts followed a step-by-step structure consisting of (1) main keywords for classification and (2) specific instructions. An initial prompt was applied to GPT-4o and demonstrated acceptable agreement with human coders (Krippendorff's α = 0.84, 95% CI [0.82-0.86] for the full dataset). The finalized prompt that contained additional detailed instructions was applied to GPT-4o and Gemini 1.5 Pro. The results demonstrated a substantial agreement among human coders, GPT-4o, and Gemini 1.5 Pro (Krippendorff's α = 0.81; 95% CI [0.80-0.83]). Conclusions This study highlights the potential of human-AI collaboration in large-scale thematic classification. By integrating the efficiency of AI with human oversight, the proposed approach enhances both methodological validity and interpretive reliability. It offers a scalable pathway for future research in public health, infodemiology, and health communication. Key messages • Generative AI models (GPT-4o and Gemini 1.5 Pro) can reliably replicate human coding judgments in multi-category classification tasks when guided by a structured prompt. • Human–AI collaboration effectively supports the identification of key information sources in cancer infodemiology by combining AI efficiency with human oversight.
Journal Article
Making It
2025,2024
The restaurant industry is one of the few places in America where workers from lower-class backgrounds can rise to positions of power and prestige. Yet with over four million cooks and food-preparation workers employed in America’s restaurants, not everyone makes it to the high-status position of chef. What factors determine who rises the ranks in this fiercely competitive pressure-cooker environment?
Making It explores how the career path of restaurant workers depends on their accumulation of kitchen capital , a cultural asset based not only on their ability to cook but also on how well they can fit into the workplace culture and negotiate its hierarchical structures. After spending 120 hours working in a restaurant kitchen and interviewing fifty chefs and cooks from fine-dining establishments and greasy-spoon diners across the country, sociologist Ellen Meiser discovers many strategies for accumulating kitchen capital. For some, it involves education and the performance of expertise; others climb the ranks by controlling their own emotions or exerting control over coworkers. Making It offers a close and personal look at how knowledge, power, and interpersonal skills come together to determine who succeeds and who fails in the high-pressure world of the restaurant kitchen.