Fanconi anemia (FA) is a rare inherited genetic condition that may lead to bone marrow failure, leukemia, and/or solid tumors. It is caused by the loss of function of at least 1 gene of the FA/BRCA ...pathway, which is necessary for DNA repair. Patients with FA have a 200‐fold to 1000‐fold risk of developing head and neck cancer, mainly oral squamous cell carcinoma (OSCC), and of doing so at a much younger age than individuals within the general population. Also, patients who have FA with OSCC have poor overall survival rates, reinforcing the necessity to detect OSCC early. The scope of the current review is to provide an update on OSCC in patients with FA.
In this update on oral squamous cell carcinoma in patients with Fanconi anemia, there is a special focus on the need to detect oral cancer early because these patients have poor overall survival rates, reinforcing the necessity for early detection. The use of novel molecular biology techniques seems promising for identifying oral squamous cell carcinoma biomarkers and generating new protocols for oral cancer screening.
Vascular skin symptoms in COVID‐19: a French observational study Bouaziz, J.D.; Duong, T.A.; Jachiet, M. ...
JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology,
September 2020, Volume:
34, Issue:
9
Journal Article
Summary
Background
The outbreak of chilblain‐like lesions (CLL) during the COVID‐19 pandemic has been reported extensively, potentially related to SARS‐CoV‐2 infection, yet its underlying ...pathophysiology is unclear.
Objectives
To study skin and blood endothelial and immune system activation in CLL in comparison with healthy controls and seasonal chilblains (SC), defined as cold‐induced sporadic chilblains occurring during 2015 and 2019 with exclusion of chilblain lupus.
Methods
This observational study was conducted during 9–16 April 2020 at Saint‐Louis Hospital, Paris, France. All patients referred with CLL seen during this period of the COVID‐19 pandemic were included in this study. We excluded patients with a history of chilblains or chilblain lupus. Fifty patients were included.
Results
Histological patterns were similar and transcriptomic signatures overlapped in both the CLL and SC groups, with type I interferon polarization and a cytotoxic–natural killer gene signature. CLL were characterized by higher IgA tissue deposition and more significant transcriptomic activation of complement and angiogenesis factors compared with SC. We observed in CLL a systemic immune response associated with IgA antineutrophil cytoplasmic antibodies in 73% of patients, and elevated type I interferon blood signature in comparison with healthy controls. Finally, using blood biomarkers related to endothelial dysfunction and activation, and to angiogenesis or endothelial progenitor cell mobilization, we confirmed endothelial dysfunction in CLL.
Conclusions
Our findings support an activation loop in the skin in CLL associated with endothelial alteration and immune infiltration of cytotoxic and type I IFN‐polarized cells leading to clinical manifestations.
What is already known about this topic?
Chilblain‐like lesions have been reported during the COVID‐19 pandemic.
They are associated with systemic type I interferon polarization, but the precise pathophysiology is still unclear.
What does this study add?
We demonstrate cutaneous and systemic immune activation and vascular alteration.
Histological patterns were similar and transcriptomic signatures overlapped in chilblain‐like lesions and a comparator group with seasonal chilblains.
A systemic immune response was associated with high prevalence of IgA antineutrophil cytoplasmic antibodies and an elevated type I interferon signature.
We confirmed endothelial dysfunction in chilblain‐like lesions.
What is the translational message?
Chilblain‐like lesions and seasonal chilblains seem to share a common pathophysiology.
The strong type I interferon response can be explained by a viral trigger.
Similar endothelial dysfunctions have been described during mild COVID‐19.
Local or systemic anti‐inflammatory treatment could reverse cutaneous manifestations.
Linked Comment: S.M. Pilkington and R.E.B. Watson. Br J Dermatol 2021; 185:1090–1091.
Plain language summary available online
Teledermatology for COVID‐19 cutaneous lesions: substitute or supplement? Skayem, C.; Cassius, C.; Ben Kahla, M. ...
JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology,
October 2020, Volume:
34, Issue:
10
Journal Article
Background
While some information on psoriasis impact on pregnancy is available, very little is known on the preoccupations of women afflicted by the disease or on the dermatologists’ (D) positioning ...as to psoriasis and pregnancy. The ‘Objectifs Peau’ project demonstrated a 4.7% prevalence of psoriasis in women aged 18–45 years in France.
Objective
This project sought to further address these issues in view of a targeted action plan.
Methods
A questionnaire was made available to 361 D of different types.
Results
Overall, 152 D answered the questionnaire, 50.7% working in private or mixed practice and 49.3% in hospitals, with 63% females (DF) and 37% males (DM). Over the last 3 months, the mean percentage of women of child‐bearing age seen by these D was 28.6%. The main issue addressed by D upon psoriasis diagnosis was the patient's wish to become pregnant in the short‐term (84%), while the compatibility of drug treatment with pregnancy was the issue prioritized by patients (64%). Among DM and DF, 46% and 29% reported having been confronted with an unplanned pregnancy, with their reaction mainly dependent on the treatment taken in 66%. Regarding follow‐up, 26% D declared having shared their decision‐making with gynaecologists, while 56% considered the first pregnancy trimester to be the highest‐risk period. Only 28% D were familiar with existing recommendations, with only 21% of them considering them appropriate.
Conclusion
Overall, 26.2% of French psoriasis women are of child‐bearing potential, in line with our dataset (28.6%). Only 56% D considered the 1st pregnancy trimester to be the highest‐risk period, with only one‐third familiar with existing recommendations. The gap between recommendations and actual practices must be addressed through policies that take women's preoccupations better into account.
Teledermatology (TD) was previously described as an efficient substitute to in-person visits for COVID-19 associated lesions.
During the first COVID-19 wave, chilblain-like lesions (CLL) were the ...most reported dermatological manifestation.
Although COVID-19 polymerase reactive chain (PCR) or serology were negative for most cases, this unexpected outbreak of chilblains remained remarkable.
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Access to education is a fundamental human right. However, children with disabilities in most African countries (including Zimbabwe) are often excluded and marginalized. They persistently face ...barriers to the enjoyment of their basic human rights and inclusion in education. This paper sought to examine some interventions being employed by stakeholders to enhance the inclusion of children with disabilities in schools. The study covered five districts in Zimbabwe using a mixed-methods design. Study findings revealed that in most communities, definitions and interpretations of disability reflected various myths, fears, suspicions and misconceptions. Consequently, negative attitudes and stereotypes towards people with disabilities hinder their access to quality education. Children with disabilities were supported by central government and non-governmental organisations in accessing education. Current support mechanisms included construction of infrastructure, provision of assistive devices, provision of innovative boarding facilities, payment of school fees, psychosocial and medical related support. We assessed the effectiveness of some of these interventions and we recommended a nationwide replication of some of the support mechanisms being currently implemented, and an improvement of some of the support interventions to enhance effectiveness.
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