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Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare hematologic malignancy that can manifest with skin nodules and erythematous plaques. In most cases BPDCN progresses rapidly, causing multiple skin lesions and also affecting internal organs and bone marrow, warranting initiation of systemic therapies or hematopoietic stem cell transplantation (HCT). Although not curative, radiotherapy for isolated lesions might be indicated in case of (imminent) ulceration and large or symptomatic lesions. To this end, doses of 27.0-51.0â¯Gy have been reported. Here, we present the case of an 80-year-old male with BPDCN with multiple large, nodular, and ulcerating lesions of the thorax, abdomen, and face. Low-dose radiotherapy of 2â¯× 4.0â¯Gy was administered to several lesions, which resolved completely within 1 week with only light residual hyperpigmentation of the skin in affected areas and reliably prevented further ulceration. Radiotoxicity was not reported. Therefore, low-dose radiotherapy can be an effective and low-key treatment in selected cases of BPDCN, especially in a palliative setting, with a favorable toxicity profile.
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Atopic dermatitis (AD) is still a demanding challenge in clinical practice. Type 2 inflammation is the most common inflammatory pathway in children and adolescents with AD. Anti-inflammatory drugs, mainly corticosteroids (CS) and immunomodulant agents are the primary therapeutic approach to dampening type 2 inflammation. However, AD patients may require long-term high CS doses or drug combinations with possibly significant adverse effects to achieve and maintain disease control. In this regard, the advent of biologics constituted a breakthrough in managing this condition. Dupilumab is a monoclonal antibody directed against the IL-4 receptor α-subunit (IL-4Rα), antagonizing both IL-4 and IL-13 and is approved for pediatric severe AD. This review presents and discusses the most recent published studies on dupilumab in children and adolescents with AD. There is convincing evidence that dupilumab is safe and effective in managing AD. It can reduce skin lesions and associated itching, reduce the need for additional medications, and improve disease control and quality of life. However, a thorough diagnostic pathway is mandatory, especially considering the different AD phenotypes. The ideal eligible candidate is a child or adolescent with AD requiring systemic treatment because of severe clinical manifestations and impaired quality of life.
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Anticuerpos Monoclonales Humanizados , Dermatitis Atópica , Humanos , Dermatitis Atópica/tratamiento farmacológico , Anticuerpos Monoclonales Humanizados/uso terapéutico , Adolescente , Niño , Subunidad alfa del Receptor de Interleucina-4/antagonistas & inhibidores , Subunidad alfa del Receptor de Interleucina-4/inmunología , Índice de Severidad de la Enfermedad , Interleucina-4/antagonistas & inhibidores , Interleucina-4/inmunología , Calidad de Vida , Interleucina-13/antagonistas & inhibidores , Interleucina-13/inmunología , Resultado del TratamientoRESUMEN
OBJECTIVES: While higher infliximab (IFX) trough concentrations (TCs) are associated with better outcomes in patients with inflammatory bowel disease (IBD), they could pose a risk for adverse events (AEs), including IFX-induced skin lesions. Therefore, we studied correlations between IFX TCs and occurrence of AEs in paediatric IBD patients. METHODS: In this single-centre study, all children with Crohn's disease (CD) and ulcerative colitis (UC) receiving IFX maintenance therapy who underwent proactive drug monitoring between March 2015 and August 2022 were included. IFX doses/intervals/TCs and patient characteristics were systematically registered, as well as AEs and skin lesions appearance. RESULTS: A total of 109 patients (72 CD and 37 UC) contributed 2913 IFX TCs. During a median follow-up of 3.0 [1.5-4.5] years, we observed 684 AEs in 101 patients and 49 skin lesions in 35 patients. There was no significant difference (p = .467) in median TCs between patients with and without skin lesions. However, higher median IFX doses were associated with an increased hazard rate of skin lesions [HR 1.084 (1.024-1.148), p = .005], in addition to female sex [2.210 (1.187-5.310), p = .016] and diagnosis of CD [1.695 (1.241-1.877), p = .011]. Considering IFX therapeutic TC cut-offs of 5.0 and 9.0 µg/mL, there was no significant difference in AE rate (p = .749 and p = .833, respectively). Also, no significant association between IFX doses and AE rate (p = .159). CONCLUSIONS: Increasing the IFX dose to achieve therapeutic TCs may not increase the overall risk of AEs in paediatric IBD patients. However, concerns arise regarding the risk of skin lesions, especially in female CD patients.
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Colitis Ulcerosa , Enfermedad de Crohn , Enfermedades Inflamatorias del Intestino , Enfermedades de la Piel , Humanos , Femenino , Niño , Inhibidores del Factor de Necrosis Tumoral/uso terapéutico , Fármacos Gastrointestinales/efectos adversos , Inducción de Remisión , Enfermedades Inflamatorias del Intestino/tratamiento farmacológico , Infliximab/efectos adversos , Enfermedad de Crohn/tratamiento farmacológico , Colitis Ulcerosa/tratamiento farmacológico , Enfermedades de la Piel/inducido químicamente , Enfermedades de la Piel/tratamiento farmacológico , Factores de RiesgoRESUMEN
Hydroxyurea is an antimetabolite that inhibits DNA synthesis and is used as a treatment option in chronic myeloproliferative disorders. Rarely, "dermatomyositis (DM)-like" skin lesions are observed after long-term therapy. In this case series, five skin biopsies of four patients were evaluated by histology, immunohistochemistry, and next-generation sequencing of the TP53 gene locus. All biopsies showed focal basal pleomorphic keratinocytes and suprabasal aberrant p53 expression as well as sparse to severe vacuolar interface dermatitis. Histopathologically, "DM-like" skin lesions can be clearly distinguished from DM by marked subepidermal fibrosis, vascular proliferation, and the absence of dermal mucin deposits. In 75% of the specimens multiple, partly inactivating and/or pathogenic point mutations of TP53 were found in low frequencies. "DM-like" skin eruptions as a long-term consequence of hydroxyurea therapy are possibly not chemotherapy-associated benign toxic changes, but rather inflammatory reactions to complex keratinocyte alterations that clinically mimic the picture of DM. Synergistic mutagenic effects of hydroxyurea and sunlight might be responsible for this unique drug side effect and could provide a pathogenic link to the known increased risk of skin cancer in these patients.
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BACKGROUND: Skin diseases are severe diseases. Identification of these severe diseases depends upon the abstraction of atypical skin regions. The segmentation of these skin diseases is essential to rheumatologists in risk impost and for valuable and vital decision-making. Skin lesion segmentation from images is a crucial step toward achieving this goal-timely exposure of malignancy in psoriasis expressively intensifies the persistence ratio. Defies occur when people presume skin diseases they have without accurately and precisely incepted. However, analyzing malignancy at runtime is a big challenge due to the truncated distinction of the visual similarity between malignance and non-malignance lesions. However, images' different shapes, contrast, and vibrations make skin lesion segmentation challenging. Recently, various researchers have explored the applicability of deep learning models to skin lesion segmentation. MATERIALS AND METHODS: This paper introduces a skin lesions segmentation model that integrates two intelligent methodologies: Bayesian inference and edge intelligence. In the segmentation model, we deal with edge intelligence to utilize the texture features for the segmentation of skin lesions. In contrast, Bayesian inference enhances skin lesion segmentation's accuracy and efficiency. RESULTS: We analyze our work along several dimensions, including input data (datasets, preprocessing, and synthetic data generation), model design (architecture, modules), and evaluation aspects (data annotation requirements and segmentation performance). We discuss these dimensions from seminal works and a systematic viewpoint and examine how these dimensions have influenced current trends. CONCLUSION: We summarize our work with previously used techniques in a comprehensive table to facilitate comparisons. Our experimental results show that Bayesian-Edge networks can boost the diagnostic performance of skin lesions by up to 87.80% without incurring additional parameters of heavy computation.
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Teorema de Bayes , Enfermedades de la Piel , Humanos , Enfermedades de la Piel/diagnóstico por imagen , Enfermedades de la Piel/patología , Internet de las Cosas , Aprendizaje Profundo , Neoplasias Cutáneas/diagnóstico por imagen , Neoplasias Cutáneas/patología , Piel/diagnóstico por imagen , Piel/patología , Dermoscopía/métodos , AlgoritmosRESUMEN
Treatment-resistant dermatophytosis caused by the members of the Trichophyton mentagrophytes/Trichophyton interdigitale species group (TMTISG) is increasing worldwide. We aimed to determine the prevalence of TMTISG in patients with dermatophytosis in two centers from north of Iran and detect the possible mutations in the squalene epoxidase (SQLE) gene in relevant terbinafine (TRB) resistant pathogenic isolates. From November 2021 to December 2022, 1960 patients suspected to dermatophytosis and referred to two mycology referral laboratories in the north of Iran were included in the study. Identification of all dermatophyte isolates was confirmed by RFLP of rDNA internal transcribed spacer (ITS) regions. Antifungal susceptibility testing against five common antifungals using the CLSI-M38-A3 protocol was performed. The TMTISG isolates resistant to TRB, were further analyzed to determine the possible mutations in the SQLE gene. Totally, 647 cases (33%) were positive for dermatophytosis of which 280 cases (43.3%) were identified as members of TMTISG. These were more frequently isolated from tinea corporis 131 (44.56%) and tinea cruris 116 (39.46%). Of 280 TMTISG isolates, 40 (14.3%) were resistant to TRB (MIC ≥ 4 µg/mL), all found to be T. indotineae in ITS sequencing. In SQLE sequencing 34 (85%) of TRB-resistant isolates had coincident mutations of Phe397Leu and Ala448Thr whereas four and two isolates had single mutations of Phe397Leu and Leu393Ser, respectively. Overall, the resistance of Iranian TMTISG isolates to TRB greatly occurred by a mutation of Phe397Leu in the SQLE gene as alone or in combination with Ala448Thr. Nevertheless, for the occurrence of in vitro resistance, only the presence of Phe397Leu mutation seems to be decisive.
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Antifúngicos , Arthrodermataceae , Farmacorresistencia Fúngica , Pruebas de Sensibilidad Microbiana , Escualeno-Monooxigenasa , Terbinafina , Tiña , Irán/epidemiología , Farmacorresistencia Fúngica/genética , Humanos , Antifúngicos/farmacología , Terbinafina/farmacología , Estudios Transversales , Tiña/microbiología , Tiña/epidemiología , Prevalencia , Arthrodermataceae/genética , Arthrodermataceae/efectos de los fármacos , Masculino , Femenino , Escualeno-Monooxigenasa/genética , Adulto , Persona de Mediana Edad , Mutación , Anciano , Adulto Joven , Adolescente , ADN de Hongos/genética , ADN Espaciador Ribosómico/genética , NiñoRESUMEN
Orthopaedic trauma care frequently necessitates prompt and precise assessment of musculoskeletal injuries and wound depth. The potential for improved diagnostic accuracy and patient outcomes exists with the integration of sophisticated imaging modalities such as computed tomography (CT) and magnetic resonance imaging (MRI) with focused assessment with sonography for trauma (FAST). The purpose of this research was to examine the benefits and drawbacks of this integrative method in the clinical environment. From June 2022 to September 2023, 250 patients who were admitted to Ningbo University Affiliated People's Hospital, participated in this cross-sectional observational study. Following the administration of FAST, CT and MRI were utilized to evaluate orthopaedic injuries and skin wounds in patients. Analyses of data centred on the precision of diagnoses, the influence of treatment decisions and patient outcomes. Aged and gendered differently, the study participants sustained the variety of injuries and superficial wounds that were predominantly the result of traffic accidents. The FAST assay exhibited sensitivity of 65%, specificity of 80% and 72% overall accuracy. MRI demonstrated the finest diagnostic performance (85% sensitivity, 95% specificity and 89% accuracy), whereas CT scans offered improved diagnostic efficacy (80% sensitivity, 90% specificity and 84% accuracy). Treatment decisions were substantially impacted by integration of these imaging modalities, resulting in modifications in 20%-35% of cases, depending on the specific modality employed. Specifically, MRI played a pivotal role in informing treatment approaches, influencing non-surgical as well as surgical procedures. This study substantiates the significant advantages of integrating FAST with CT and MRI in orthopaedic trauma care, particularly in the accurate assessment of wound depth. The synergistic use of these imaging techniques not only enhances diagnostic precision but also positively impacts treatment strategies and patient outcomes, emphasizing the need for a comprehensive diagnostic approach in trauma care settings.
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Traumatismos Abdominales , Servicios Médicos de Urgencia , Evaluación Enfocada con Ecografía para Trauma , Ortopedia , Heridas no Penetrantes , Humanos , Anciano , Estudios Transversales , Tomografía Computarizada por Rayos X , Imagen por Resonancia Magnética , Sensibilidad y Especificidad , UltrasonografíaRESUMEN
The care of migrant patients includes initial screening and lifelong monitoring, highlighting the importance of preventing and tracking chronic, communicable and non-communicable diseases. The prevalence of hypertension, diabetes mellitus, dyslipidemia, and obesity varies by ethnicity, influenced by genetic factors, lifestyle, and socio-economic status. Preventive measures, health promotion, and risk factor identification are crucial. Chronic communicable diseases may manifest years after transmission, underscoring the necessity of primary care screening, especially for populations from endemic or high-risk areas. Imported skin lesions are a common reason for consultation among migrant and traveller patients. Their ethiology is varied, ranging from common conditions such as scabies, mycoses, and urticaria to tropical dermatoses like filariasis and leprosy.
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Enfermedades de la Piel , Migrantes , Humanos , Enfermedad Crónica , Enfermedades de la Piel/etiología , Enfermedades no Transmisibles/epidemiología , Enfermedades Transmisibles/epidemiologíaRESUMEN
OBJECTIVES: Extra-osseous (EO) manifestations are poorly characterized in chronic recurrent multifocal osteomyelitis (CRMO). This study aimed to further define the frequency, characteristics and treatment of EO events in CRMO and whether different phenotypes can be distinguished and benefit from special management. METHODS: This multicentre retrospective study included CRMO patients followed in several paediatric rheumatology departments in France, between 2015 and 2022. EO manifestations were defined as skin lesions, gastrointestinal manifestations, arthritis, enthesitis, sacroiliitis, uveitis, vasculitis, and fever. At the last visit, the physician defined CRMO as active in the presence of clinical manifestations including both osseous and EO symptoms. RESULTS: We included 133 patients; 87 (65.4%) were girls; the median age at first symptoms was 9.0 years (interquartile range 7.0-10.0). EO manifestations were described in 90 (67.7%) patients, with a predominance of skin lesions (n = 51/90; 56.7%), followed by sacroiliitis (n = 38/90; 42.2%), enthesitis (n = 21/90; 23.3%), arthritis (n = 14/90, 15.6%) and gastrointestinal manifestations (n = 6/90, 6.7%). The use of non-steroidal anti-inflammatory drugs and bisphosphonates did not differ by presence or not of EO manifestations. Biologics were taken more frequently by patients with than without EO manifestations (p< 0.001); tumour necrosis factor inhibitors were used in 33 (36.7%) EO+ patients. Under this treatment, 18 (54.5%) patients achieved complete remission of osseous and EO manifestations. At the last visit, more EO-positive than EO-negative patients were on treatment (p= 0.009), with active disease in 58 (64.4%) patients. CONCLUSION: The analysis of EO manifestations in CRMO delineates 2 groups of patients in terms of severity and treatments used. Our study opens up new pathophysiological leads that may underlie the wide range of CRMO phenotypes.
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BACKGROUND: In the 2022 mpox (monkeypox) outbreak, 79,000 global cases have been reported. Yet, limited dermatologic data have been published regarding lesion morphology and progression. OBJECTIVE: The objective of this study was to characterize skin lesion morphology, symptomatology, and outcomes of mpox infection over time. METHODS: The American Academy of Dermatology/International League of Dermatological Societies Dermatology COVID-19, Mpox, and Emerging Infections Registry captured deidentified patient cases of mpox entered by health care professionals. RESULTS: From August 4 to November 13, 2022, 101 cases from 13 countries were entered, primarily by dermatologists (92%). Thirty-nine percent had fewer than 5 lesions. In 54% of cases, skin lesions were the first sign of infection. In the first 1-5 days of infection, papules (36%), vesicles (17%), and pustules (20%) predominated. By days 6-10, pustules (36%) were most common, followed by erosions/ulcers (27%) and crusts/scabs (24%). Crusts/scabs were the predominant morphology after day 11. Ten cases of morbilliform rash were reported. Scarring occurred in 13% of the cases. LIMITATIONS: Registry-reported data cannot address incidence. There is a potential reporting bias from the predilection to report cases with greater clinical severity. DISCUSSION: These findings highlight differences in skin findings compared to historical outbreaks, notably the presence of skin lesions prior to systemic symptoms and low overall lesion counts. Scarring emerged as a major possible sequela.
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COVID-19 , Mpox , Enfermedades de la Piel , Humanos , Cicatriz , COVID-19/epidemiología , Brotes de Enfermedades , Vesícula , Progresión de la EnfermedadRESUMEN
BACKGROUND: The study aimed to evaluate the influence of wheat straw and different coffee husk (CHs) levels in pellet bedding on its quality, broiler chickens' performance, meat quality, and welfare indicators. In total, 200 Ross 308 chickens were divided into 4 groups: C - control with wheat straw pellet; CH10 - pellet with 10% CHs, CH25 - pellet with 25% CHs, and CH50 - pellet with 50% CHs. During 42 days of rearing, each bedding's physicochemical features were analyzed. The production results were controlled, and the footpad dermatitis, hock burns, and feather quality were assessed. From chosen birds, carcass composition was analyzed, as well as the qualitative features (color, water-holding capacity, drip loss) and breaking bone strength. RESULTS: The bedding material and rearing days influenced the content of dry matter, crude fiber, nitrogen, phosphorus, potassium, NDF, ADF, and pH. The results were inconclusive. The increasing trends in nitrogen, phosphorus, and potassium content were noticed at the end of rearing. Strong coefficient determination in bedding features was found (0.580 - 0.986). The pellet with CHs had no adverse effect on the growth performance of broilers. In the CH50 group, a lower fat percentage was found. A beneficial effect on water-holding capacity was noticed in leg muscles from CH10 and pectoral muscles from CH25. A significant decrease was found in footpad dermatitis incidence in groups CH25 and CH50. CONCLUSIONS: It can be concluded that CHs reuse in broilers as the pellet bedding material is possible due to the beneficial effect on some meat quality features and no adverse effect on the performance of broiler chickens. The positive impact on lower foot pad dermatitis incidence indicated the possibility of using CHs in pellet bedding.
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Coffea , Dermatitis , Enfermedades de las Aves de Corral , Animales , Pollos , Enfermedades de las Aves de Corral/epidemiología , Vivienda para Animales , Crianza de Animales Domésticos/métodos , Dermatitis/prevención & control , Dermatitis/veterinaria , Nitrógeno , Agua , CarneRESUMEN
Fusarium, a common fungus, emerges as a pathogen in severely immunocompromised patients. We present a series of patients who developed invasive fusariosis (IF) during admission to an acute leukaemia ward: an outbreak of 12 cases in June and July 2018, followed by four sporadic cases until 2021. No case was reported earlier. All patients were clustered in the same location with indoor air and water installations found to be contaminated with Fusarium spp. thus a nosocomial outbreak was assumed. Following the water installation replacement, the number of Fusarium cases dramatically dropped to one or two isolated instances per year in the same location. All 16 patients had acute leukaemia and developed IF during severe neutropenia following induction therapy. IF diagnosis was based on positive blood cultures (14 patients) and/or on tissue biopsies (3 patients). The median time from admission to the IF onset was 20 days, and from the first day of severe neutropenia (≤500/mm3) was 11.5 days. All patients were febrile, eight had moderate-to-severe myalgias, eight had respiratory involvements: lung lesions and/or sinusitis and seven had characteristic skin lesions. Follow-up: 12 out of 16 (75%) were alive on Day 90; nine out of 15 (60%) were alive on Month 6. All with intractable neutropenia died. In severely neutropenic febrile patients, the triad of respiratory involvement/skin lesions/severe myalgia may suggest Fusarium aetiology. The ability to recover from neutropenia is critical to surmount IF. The indoor environment in immunocompromised dedicated settings must be constantly controlled.
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Fusariosis , Fusarium , Hematología , Leucemia Mieloide Aguda , Neutropenia , Humanos , Fusariosis/microbiología , Leucemia Mieloide Aguda/complicaciones , Leucemia Mieloide Aguda/tratamiento farmacológico , Neutropenia/complicaciones , Neutropenia/tratamiento farmacológico , Brotes de Enfermedades , Huésped Inmunocomprometido , Antifúngicos/uso terapéuticoRESUMEN
Subclinical mastitis can be common among freshly calved heifers (FCH), but the prevalence differs between herds, possibly due to variation in risk factors. The aims of this observational study were to identify differences in occurrence of intramammary infection (IMI) in FCH between herds with documented good or poorer first-parity udder health based on cow somatic cell count (CSCC) in early lactation, and to study herd differences in animal factors important for udder health, such as udder and hock skin lesions and animal cleanliness. Three groups of herds were included: those with high proportions of FCH with low CSCC (≤75,000 cells/mL) at the first 2 milk recordings after calving (LL), herds with high proportions of FCH with high CSCC (>100,000 cells/mL) at the first and low CSCC at the second recording (HL), and herds with high proportions of FCH with high CSCC at both recordings (HH). Thirty-nine herds (13 LL, 11 HL, 15 HH) were visited 3 times during a 12-mo period for observation of cleanliness and hock lesions, and sampling of udder and teat skin using swab cloths of milk-fed calves, early-pregnant heifers, and late-pregnant heifers. In 25 (9 LL, 9 HL, 7 HH) udder quarter samples from colostrum and milk on d 3 to 4 after calving were taken by the farmers from FCH during one year. The farmers also provided information on calving (individual or group), use of restraint and oxytocin at milking, and presence of teat and udder skin lesions. Bacterial growth in swab samples and quarter samples was investigated by culturing, and a selection of isolates was genotyped using whole-genome sequencing. Cleanliness, hock and udder skin lesions other than udder-thigh dermatitis, and growth of bacteria in swab samples did not differ between herd groups. It was more common that FCH from LL herds, compared with FCH in HH and HL herds, calved in a group of animals. Use of restraint at milking was more common in LL herds than in HH herds, whereas presence of udder-thigh dermatitis was lowest in LL herds. Specific infection was found in 14% of 5,593 quarter samples from 722 FCH. The most common IMI was Staphylococcus chromogenes. Growth of Staphylococcus simulans was more common in HH than in LL and HL herds. In colostrum samples, Staphylococcus haemolyticus was more common in HL and HH than in LL herds. The proportion of quarters with the same specific infection at both samplings was higher in HH than in LL herds and tended to be higher in HH than in HL herds. The proportion of quarters with Staph. chromogenes IMI at both samplings tended to differ between herd groups and was highest in HH herds. Whole-genome sequencing found the same sequence type of Staph. chromogenes and Staphylococcus aureus in both samples in almost all quarters with the same infection at both samplings. The differences in IMI between herd groups were in line with the higher somatic cell count in HH herds. The reasons for the predominance of Staph. chromogenes IMI in FCH need further studies.
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Aesthetic medicine is a dynamically developing field of medicine. It has an impact not only on the improvement of the external appearance, but also on health and quality of life. Currently, vascular changes affect many patients and significantly diminish the condition of the skin. The development of modern laser therapy has contributed to the successful management of multiple skin conditions, among them vascular lesions. The aim of our study was to show the efficacy of repetitive 532 nm laser therapy in reducing vascular skin lesions located on the facial area. Observations were possible due to the implementation of System of Skin Analysis. We retrospectively analyzed the records of 120 patients (100 women and 20 men) using "VISIA" Skin Analysis System after 532 nm laser therapy. Treatment with the use of the 532 nm vascular laser turned out to be effective in reducing vascular changes in both women and men. The skin phototypes did not significantly affect the therapy efficacy. Neither the age of patients nor number of laser sessions affect therapy efficacy. 532 nm laser therapy is effective in reducing vascular skin lesions located in the face area.
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Calidad de Vida , Enfermedades de la Piel , Masculino , Humanos , Femenino , Resultado del Tratamiento , Estudios Retrospectivos , Piel , Rayos LáserRESUMEN
We have previously reported that pathogenic variants in a key metabolite repair enzyme NAXD cause a lethal neurodegenerative condition triggered by episodes of fever in young children. However, the clinical and genetic spectrum of NAXD deficiency is broadening as our understanding of the disease expands and as more cases are identified. Here, we report the oldest known individual succumbing to NAXD-related neurometabolic crisis, at 32 years of age. The clinical deterioration and demise of this individual were likely triggered by mild head trauma. This patient had a novel homozygous NAXD variant [NM_001242882.1:c.441+3A>G:p.?] that induces the mis-splicing of the majority of NAXD transcripts, leaving only trace levels of canonically spliced NAXD mRNA, and protein levels below the detection threshold by proteomic analysis. Accumulation of damaged NADH, the substrate of NAXD, could be detected in the fibroblasts of the patient. In agreement with prior anecdotal reports in paediatric patients, niacin-based treatment also partly alleviated some clinical symptoms in this adult patient. The present study extends our understanding of NAXD deficiency by uncovering shared mitochondrial proteomic signatures between the adult and our previously reported paediatric NAXD cases, with reduced levels of respiratory complexes I and IV as well as the mitoribosome, and the upregulation of mitochondrial apoptotic pathways. Importantly, we highlight that head trauma in adults, in addition to paediatric fever or illness, may precipitate neurometabolic crises associated with pathogenic NAXD variants.
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Conmoción Encefálica , Encefalopatías Metabólicas , Hidroliasas , Adulto , Niño , Preescolar , Humanos , Hidroliasas/metabolismo , Mitocondrias/metabolismo , NAD/metabolismo , Enfermedades Neurodegenerativas/genética , Enfermedades Neurodegenerativas/metabolismo , Proteómica , Conmoción Encefálica/complicaciones , Conmoción Encefálica/genética , Encefalopatías Metabólicas/etiología , Encefalopatías Metabólicas/genéticaRESUMEN
Cinnamaldehyde (CNM) is an essential-oil component with reported anti-infective, anti-inflammatory, and healing effects, making it an interesting compound for the treatment of wound infection. Herein, we evaluated the effects of topical administration of CNM in experimental wounds infected by Staphylococcus aureus. Swiss mice (n = 12/group) were randomly allocated into three groups (CON: animals with uninfected lesions; Sa: animals with untreated infected lesions; Sa + CNM: animals with infected wounds and treated with CNM). Excisional lesions (64 mm2) were induced at the dorsal area followed by the addition of S. aureus (80 µL of a 1.5 × 108 CFU/mL bacterial suspension). The wounds were treated with CNM (200 µg/wound/day) or vehicle (2% DMSO) for 10 days. Skin samples were taken on the 3rd or 10th treatment day for quantification of inflammatory mediators, bacterial load, immunophenotyping, and histological analysis. The treatment with CNM improved the healing process and attenuated the severity of skin lesions infected by S. aureus. These effects were associated with significant decreases in bacterial loads in CNM-treated wounds. The levels of neutrophils, TNF-α, IL-6, NO, and VEGF were decreased in the lesions treated with CNM. Taken together, these data provide further evidence of the effectiveness of CNM for the treatment of skin infections.
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Infecciones Estafilocócicas , Infección de Heridas , Ratones , Animales , Staphylococcus aureus , Cicatrización de Heridas , Infecciones Estafilocócicas/tratamiento farmacológico , Infecciones Estafilocócicas/patología , Infección de Heridas/tratamiento farmacológicoRESUMEN
Reports of paedoptera dermatitis are commonly found in tropical and subtropical regions, while reports in China are rare. In September 2022, an outbreak of paedoptera dermatitis occurred in a minority autonomous county in southwestern China. Here, we report 134 patients with paedoptera dermatitis who were treated at the People's Hospital of Sandu Shui Autonomous County. The skin lesions of these patients were mostly located on the face, neck, trunk, or multiple sites. The skin lesions were mainly distributed in patches and were characterized by vesicular linear or "kissing" lesions. Most patients felt burning pain, and few patients felt pruritus. The treatments with oral antihistamines, calamine lotion, steroids, and antibiotics were effective. For patients with ocular involvement, treatments with oral prednisone and bufexamac cream were effective. All patients recovered within 2 wk. There is a possibility of another outbreak of paedoptera dermatitis in the region. Awareness of the condition and its clinical features will prevent misdiagnosis. Early diagnosis and timely treatment lead to a better prognosis for paederus dermatitis. Simple preventive measures can be undertaken based on the behavioral pattern of this nocturnal beetle.
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Escarabajos , Dermatitis , Animales , Humanos , Brotes de Enfermedades , Hospitales , China/epidemiología , Dermatitis/tratamiento farmacológico , Dermatitis/epidemiología , Dermatitis/etiologíaRESUMEN
Mycobacterium haemophilum is a rare pathogen belonging to the group of slowly growing nontuberculous mycobacteria (NTM) that can cause infections, especially in immunocompromised patients. Detection by culturing is difficult because M. haemophilum only grows under special cultivation conditions. Therefore, it is believed that the pathogen is too rarely identified as a cause of disease overall. In addition to patients with severe immunodeficiency, e.g. due to acquired immunodeficiency syndrome (AIDS), chemotherapy or immunosuppression after transplantation, patients with underlying rheumatic diseases are increasingly described in the literature, who are at risk due to the immunosuppressive treatment regimen. Clinically, ulcerative skin alterations, lymphadenopathy and arthropathy are in the foreground. In immunosuppressed patients with unclear skin lesions, infections due to M. haemophilum should be considered and specific microbiological diagnostics should be initiated.
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Infecciones por Mycobacterium no Tuberculosas , Mycobacterium haemophilum , Úlcera Cutánea , Humanos , Infecciones por Mycobacterium no Tuberculosas/diagnóstico , Infecciones por Mycobacterium no Tuberculosas/tratamiento farmacológico , Micobacterias no Tuberculosas , Huésped InmunocomprometidoRESUMEN
Snake fungal disease, caused by Ophidiomyces ophidiicola, is recognized as a potential concern for North American snakes. We tested skin swabs from Northern Pine Snakes (Pituophis melanoleucus melanoleucus) in the New Jersey pinelands for the presence of O. ophidiicola before emergence from hibernation. We used qPCR to test the collected swabs for the presence of O. ophidiicola, then determined pathogen prevalence as a function of sampling year, sampling location (skin lesion, healthy ventral skin, healthy head skin) sex, and age. There were no temporal trends in O. ophidiicola detection percentages on snakes, which varied from 58 to 83% in different years. Ophidiomyces ophidiicola detection on snakes was highest in swabs of skin lesions (71%) and lowest in head swabs (29%). Males had higher prevalence than females (82% versus 62%). The fungus was not detected in hatchling snakes (age 0) in the fall, but 75% of juveniles tested positive at the end of hibernation (age 1 year). We also screened hibernacula soil samples for the presence of O. ophidiicola. Where snakes hibernated, 69% of soil samples were positive for O. ophidiicola, and 85% of snakes lying on positive soil samples also tested positive for the pathogen. Although a high proportion of snakes (73%) tested positive for O. ophidiicola during our 4-year study, the snakes appeared healthy except for small skin lesions. We conclude that O. ophidiicola prevalence is high on hibernating Northern Pine Snakes and in the hibernacula soil, with a strong association between snakes and positive adjacent soil. This is the first demonstration that snakes likely become infected during hibernation.
Asunto(s)
Monitoreo del Ambiente , Micosis , Masculino , Animales , Femenino , New Jersey/epidemiología , Prevalencia , Serpientes/microbiología , Micosis/microbiología , Micosis/patologíaRESUMEN
Herpes simplex virus 1 (HSV-1) enters its human host via the skin and mucosa. The open question is how the virus invades this highly protective tissue in vivo to approach its receptors in the epidermis and initiate infection. Here, we performed ex vivo infection studies in human skin to investigate how susceptible the epidermis and dermis are to HSV-1 and whether wounding facilitates viral invasion. Upon ex vivo infection of complete skin, only sample edges with integrity loss demonstrated infected cells. After removal of the dermis, HSV-1 efficiently invaded the basal layer of the epidermis and, from there, gained access to suprabasal layers. This finding supports a high susceptibility of all epidermal layers which correlated with the surface expression of the receptors nectin-1 and herpesvirus entry mediator (HVEM). In contrast, only single infected cells were detected in the separated dermis, where minor expression of the receptors was found. Interestingly, after wounding, nearly no infection of the epidermis was observed via the skin surface. However, if the wounding of the skin samples led to breaks through the dermis, HSV-1 infected mainly keratinocytes via the damaged dermal layer. The application of latex beads revealed only occasional entry via the wounded dermis; however, it facilitated penetration via the wounded skin surface. Thus, we suggest that although the wounded human skin surface allows particle penetration, the skin still provides barriers that prevent HSV-1 from reaching its receptors. IMPORTANCE The human pathogen herpes simplex virus 1 (HSV-1) invades its host via the skin and mucosa, which leads to primary infection of the epithelium. As the various epithelial barriers effectively protect the tissue against viral invasion, successful infection most likely depends on tissue damage. We addressed the initial invasion process in human skin by ex vivo infection to understand how HSV-1 overcomes physical skin barriers and reaches its receptors to enter skin cells. Our results demonstrate that intact skin samples allow viral access only from the edges, while the epidermis is highly susceptible once the basal epidermal layer serves as an initial entry portal. Surprisingly, mechanical wounding did not facilitate HSV-1 entry via the skin surface, although latex beads still penetrated via the lesions. Our results imply that successful invasion of HSV-1 depends on how well the virus can reach its receptors, which was not accomplished by skin lesions under ex vivo conditions.