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1.
Postepy Dermatol Alergol ; 41(4): 378-387, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-39290901

RESUMEN

Introduction: Many studies have shown significant alterations in the gut microbiome of patients with psoriasis compared to healthy controls. Aim: The primary objective of the current research was to explore the impact of gut microbiome composition on the progression and severity of plaque psoriasis. Material and methods: A total of 20 patients with moderate-to-severe psoriasis and 20 healthy individuals were recruited and provided a stool sample to assess the gut microbiome. After the samples were prepared according to the NGS library preparation workflow, they were sequenced using the Illumina platform and the report was generated that underwent statistical analysis. Results: The microbiome profiles of psoriasis patients exhibited significant differences compared to healthy controls as evidenced by the statistical analysis of various bacterial genera, with the median abundance significantly lower in psoriasis patients compared to healthy controls (p = 0.033). The analysis of the Firmicutes-to-Bacteroidetes ratio, a commonly evaluated marker of dysbiosis, did not reach statistical significance (p = 0.239). However, there was a noticeable trend towards a higher median ratio in psoriasis patients compared to healthy controls. The ratio did not show significant associations with PASI or BSA but trends towards significance with DLQI (B = -12.11, p = 0.095). Conclusions: Overall, the above findings underscore the importance of the gut microbiome in psoriasis and suggest that modulation of specific bacterial genera, especially that with significant differences, could be a potential strategy for therapeutic intervention. Targeting these depleted genera through microbiome-based interventions, such as probiotic supplementation or faecal microbiota transplantation, could potentially help to restore gut homeostasis and alleviate the inflammatory burden in psoriasis.

2.
Rheumatology (Oxford) ; 62(6): 2048-2059, 2023 06 01.
Artículo en Inglés | MEDLINE | ID: mdl-36575983

RESUMEN

OBJECTIVES: The multibiomarker disease activity (MBDA) score is an objective tool for monitoring disease activity in RA. Here we report a systematic review and meta-analysis of the clinical value of the MBDA score in RA. METHODS: We performed a systematic literature search in five medical databases-MEDLINE (via PubMed), Cochrane Library (CENTRAL), Embase, Scopus and Web of Science-from inception to 13 October 2021. Original articles reporting on the performance of the MBDA score's correlation with conventional disease activity measures or the predictive and discriminative values of the MBDA score for radiographic progression, therapy response, remission and relapse were included. RESULTS: Our systematic search provided a total of 1190 records. After selection and citation searches, we identified 32 eligible studies. We recorded moderate correlations between MBDA score and conventional disease activity measures at baseline [correlation (COR) 0.45 (CI 0.28, 0.59), I2 = 71.0% for the 28-joint DAS with CRP (DAS28-CRP) and COR 0.55 (CI 0.19, 0.78), I2 = 0.0% for DAS28 with ESR] and at follow-up [COR 0.44 (CI 0.28, 0.57, I2 = 70.0% for DAS28-CRP) and found that the odds of radiographic progression were significantly higher for patients with a high baseline MBDA score (>44) than for patients with a low baseline MBDA score (<30) [OR 1.03 (CI 1.02-1.05), I2 = 10.0%]. CONCLUSION: The MBDA score might be used as an objective disease activity marker. In addition, it is also a reliable prognostic marker of radiographic progression.


Asunto(s)
Antirreumáticos , Artritis Reumatoide , Humanos , Antirreumáticos/uso terapéutico , Biomarcadores , Progresión de la Enfermedad , Índice de Severidad de la Enfermedad , Artritis Reumatoide/diagnóstico por imagen , Artritis Reumatoide/tratamiento farmacológico
3.
Eur Arch Otorhinolaryngol ; 280(6): 2639-2652, 2023 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-36811654

RESUMEN

PURPOSE: Based on a systematic review and meta-analysis, our study aimed to provide information about the factors that influence the success of tympanic membrane reconstruction. METHODS: Our systematic search was conducted on November 24, 2021, using the CENTRAL, Embase, and MEDLINE databases. Observational studies with a minimum of 12 months of follow-up on type I tympanoplasty or myringoplasty were included, while non-English articles, patients with cholesteatoma or specific inflammatory diseases, and ossiculoplasty cases were excluded. The protocol was registered on PROSPERO (registration number: CRD42021289240) and PRISMA reporting guideline was used. Risk of bias was evaluated with the QUIPS tool. A random effect model was used in the analyses. Primary outcome was the rate of closed tympanic cavities. RESULTS: After duplicate removal, 9454 articles were found, of which 39 cohort studies were included. Results of four analyses showed significant effects: age (OR: 0.62, CI 0.50; 0.78, p value: 0.0002), size of the perforation (OR: 0.52, CI 0.29; 0.94, p value: 0.033), opposite ear condition (OR: 0.32, CI 0.12; 0.85, p value: 0.028), and the surgeon's experience (OR: 0.42, CI 0.26; 0.67, p value: 0.005), while prior adenoid surgery, smoking, the site of the perforation, and discharge of the ear did not. Four factors: etiology, Eustachian tube function, concomitant allergic rhinitis, and duration of the ear discharge were analyzed qualitatively. CONCLUSIONS: The age of the patient, the size of the perforation, the opposite ear status, and the surgeon's experience have a significant effect on the success of tympanic membrane reconstruction. Further comprehensive studies are needed to analyze the interactions between the factors. LEVEL OF EVIDENCE: Not applicable.


Asunto(s)
Perforación de la Membrana Timpánica , Humanos , Perforación de la Membrana Timpánica/cirugía , Perforación de la Membrana Timpánica/etiología , Resultado del Tratamiento , Miringoplastia/métodos , Timpanoplastia/métodos , Membrana Timpánica/cirugía , Estudios Retrospectivos
4.
Postepy Dermatol Alergol ; 38(2): 184-192, 2021 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-36751539

RESUMEN

Bed bug infestation rate has gone through an unforeseen increase in the past decades worldwide. Their resurgence is a consequence of numerous factors, including growing population density, increased international travel and the spread of insecticide resistance. Bed bug infestation is often revealed by skin symptoms appearing after their bite in sensitive patients. Medical professionals encountering patients with bed bug bites have responsibility for recognizing the condition and for instructing patients about the necessary measures for eradication. Setting the correct diagnosis, however, is not unequivocal as several skin diseases with autoimmune, immune-mediated aetiology or other arthropod stings and bites may present with similar symptoms. In this review we provide a differential diagnostic guide and an atlas of clinical pictures assigned to the diagnoses. We highlight those dermatological findings where the possibility of bed bug bite arises and identify key elements that help in the differentiation so as to avoid unnecessary diagnostic tests and force early start of extermination.

5.
Dermatol Ther ; 33(6): e14390, 2020 11.
Artículo en Inglés | MEDLINE | ID: mdl-33037759

RESUMEN

Dermatology is a field of medicine where urgent cases occur commonly. However, access to specialized emergency dermatology services is very limited. Following the declaration of the COVID-19 pandemic, the cessation of all elective dermatology visits was widely urged. Accordingly, in Italy, a country severely affected by the pandemic, various measures were applied and the care at university clinics was limited to urgent cases. Here we retrospectively analyzed data of patients who presented at an Italian academic outpatient clinic reserved only for emergency cases. In total, 252 patients (109 males and 143 females) with a mean age of 55.25 ± 20.99 years were cared for at our clinic during a three-month period. We classified 10 patients (4%) as real emergency cases. Pityriasis rosea was diagnosed in three patients. Many patients sought care for skin cancer screening. In 131 patients (52%) dermoscopic skin examinations were performed. In 39 patients (15%), actinic keratosis or nonmelanoma skin cancer was detected, while melanoma was diagnosed in three patients, two of which were proven later as in situ melanoma. About 111 patients (44%) visited our clinic for other, nonurgent skin diseases. Our results imply that many patients felt that their skin problems required immediate attention, even if this could not be justified. Melanoma care may be considered an emergency care for its highly malignant potential and the possibility of rapid spreading. Adequately taken photos with a dermoscope may be readily read without the presence of specialist in the emergency room to prevent unnecessary delay in diagnosing oncologic skin diseases.


Asunto(s)
COVID-19 , Dermatología , Servicio de Urgencia en Hospital , Servicio Ambulatorio en Hospital , Enfermedades de la Piel/diagnóstico , Enfermedades de la Piel/terapia , Centros Médicos Académicos , Adulto , Anciano , Dermoscopía , Femenino , Accesibilidad a los Servicios de Salud , Humanos , Italia , Masculino , Persona de Mediana Edad , Consulta Remota , Estudios Retrospectivos , Factores de Tiempo
6.
Postepy Dermatol Alergol ; 37(4): 548-558, 2020 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-32994778

RESUMEN

INTRODUCTION: The anti-cancer properties of high-dose intravenous ascorbic acid have been demonstrated in various malignancies. In our recent study, we tested topically applied ascorbic acid to treat basal cell carcinoma (BCC), and achieved a good clinical response. AIM: Based on these results, we decided to examine the efficacy and tolerability of high-dose intravenous ascorbic acid (IVA) for locally advanced BCC. MATERIAL AND METHODS: In this pilot study, patients diagnosed with locally advanced BCC who were not amenable to radiation, surgical or local therapy (no other treatment option was available at the time) received intravenous ascorbic acid (1-1.8 g/kg), in an outpatient setting, 1-3 times per week for a mean duration of 42 ±23.6 weeks. This therapy was generally well tolerated. RESULTS: Among 4 patients who had a total of 165 (mean: 41 ±51, range: 1-114) skin lesions, 3 patients achieved stable disease and one had progressive disease. There was substantial variability in individual tumor response to therapy. With the aid of two-photon microscopy and second harmonic generation imaging techniques, alterations in collagen structure were observed between tumor nests during IVA therapy. CONCLUSIONS: Our results suggest that IVA is well tolerated in a small group of patients with extensive BCCs. However, in the era of smoothened (Smo) receptor inhibitors, it may only be considered as an adjuvant therapy in treatment-resistant cases.

7.
Dermatol Ther ; 32(3): e12872, 2019 05.
Artículo en Inglés | MEDLINE | ID: mdl-30866135

RESUMEN

Keratoacanthoma (KA) is a common epidermal tumor that originates from the hair follicle of the skin. It is generally considered as a benign neoplasm, but in rare cases, it can also transform into squamous cell carcinoma. Although surgical excision with a safety margin is considered to be the gold standard treatment for most subtypes of KA, several other treatment options are also available. Intralesional therapy is one of these options, which could be cosmetically and functionally a better alternative to surgical removal, while it provides similar outcomes. It is more effective than topical treatments, yet fewer side effects may be seen than in systemic treatments. Based on the literature, the most commonly used intralesional agent is methotrexate, followed by 5-fluorouracil and interferon alpha. Regardless of the advantages, which make intralesional therapy a desirable treatment alternative, guidelines for the intralesional treatment of KA are not yet established. A histopathological confirmation before the start of treatment is still recommended to prevent any possible misdiagnosis of KA for SCC. In our present study, we set out to review the current state of the art of the intralesional treatment of KA.


Asunto(s)
Antineoplásicos/administración & dosificación , Fármacos Dermatológicos/administración & dosificación , Queratoacantoma/tratamiento farmacológico , Carcinoma de Células Escamosas/diagnóstico , Fluorouracilo/administración & dosificación , Humanos , Inyecciones Intralesiones , Interferón-alfa/administración & dosificación , Queratoacantoma/diagnóstico , Metotrexato/administración & dosificación , Neoplasias Cutáneas/diagnóstico
8.
Exp Dermatol ; 25(7): 519-25, 2016 07.
Artículo en Inglés | MEDLINE | ID: mdl-26910301

RESUMEN

Artificial UV irradiation of murine skin is a frequently used method for testing photosensitivity, study carcinogenesis and photoprotective effects of different compounds. However, doses of UV radiation and mouse strains used in experiments vary greatly. The genetic background of mice may influence the photosensitivity as melanin content, pigmentation and hair cycle parameters are dissimilar. Doses of UV are often expressed in relation to the minimal erythema dose (MED) that was not necessarily determined for the given strain. We set out to standardize the method of measuring photosensitivity in three commonly used mouse strains, C57BL/6N, Balb/c and SKH-1. We found that MED may not be determined for some strains as erythema development in mice with diverse genotypes differs greatly. We measured the oedema response in vivo and ex vivo by using OCT. Given the strain-specific variability of erythema, we introduced Clinically Relevant Dose (CRD) as a new term to replace MED in experiments, to describe the lowest dose that triggers a perceptible skin reaction in mice. Not only the CRD but the proportion of erythema and oedema were different in strains examined. C57BL/6N mice display skin reactions at the lowest UVB dose, while SKH-1 hairless mice show changes, mostly oedema, after higher doses of UVB. The cellular composition and skin thickness were examined by histopathology. IL-1beta and IL-6 levels in skin correlated with the increasing doses of UVB. Despite the variations in the degree of erythema and oedema, no major differences in cytokine expressions were seen among various strains of mice.


Asunto(s)
Modelos Animales de Enfermedad , Trastornos por Fotosensibilidad/genética , Piel/efectos de la radiación , Rayos Ultravioleta/efectos adversos , Animales , Edema/etiología , Eritema/etiología , Femenino , Interleucina-1beta/metabolismo , Interleucina-6/metabolismo , Ratones Endogámicos BALB C , Ratones Endogámicos C57BL , Piel/metabolismo , Piel/patología
9.
Orv Hetil ; 156(6): 226-9, 2015 Feb 08.
Artículo en Húngaro | MEDLINE | ID: mdl-25639637

RESUMEN

INTRODUCTION: European guidelines on the treatment of Neisseria gonorrhoeae are based mostly on Western European data, although these recommendations may not be optimised for the circumstances in Hungary. AIM: The aim of the authors was to assess current antimicrobial resistance of Neisseria gonorrhoeae strains in order to enhance gonococcal antimicrobial surveillance in Hungary. Neisseria gonorrhoeae strains were isolated at the National Center of Sexually Transmitted Infections at the Department of Dermatology, Venerology and Dermatooncology of Semmelweis University in the period between January 2011 and June 2014. METHOD: Antimicrobial resistance was determined with minimum inhibitory concentration measurement. Neisseria gonorrhoeae Multiantigen Sequence typing was used as molecular typing method. RESULTS: Resistance to the currently recommended extended spectrum cephalosporins is rare in Hungary, but there is an emerging azithromycin resistance among the Neisseria gonorrhoeae strains. CONCLUSIONS: Revision of the national treatment guideline must consider that the most frequent sequence types of Neisseria gonorrhoeae strains causing infections in Hungary are mainly resistant to azithromycin.


Asunto(s)
Antibacterianos/farmacología , Azitromicina/farmacología , Cefalosporinas/farmacología , Gonorrea/tratamiento farmacológico , Neisseria gonorrhoeae/efectos de los fármacos , Farmacorresistencia Bacteriana/efectos de los fármacos , Humanos , Hungría , Pruebas de Sensibilidad Microbiana , Neisseria gonorrhoeae/aislamiento & purificación
10.
Orv Hetil ; 156(1): 36-40, 2015 Jan 04.
Artículo en Húngaro | MEDLINE | ID: mdl-25544054

RESUMEN

Lymphogranuloma venereum is a sexually transmitted infection caused by the Chlamydia trachomatis serovars L1-3. It has been found to be endemic in tropical countries. In the last decades several cases have been reported in Western Europe, particularly in men who have sex with men population infected with human immunodeficiency virus. The authors present three cases of lymphogranuloma venereum infections, observed at their department in 2013 and 2014. The three human immunodeficiency virus infected patients who belonged to men who have sex with men population had casual sexual contacts in Western Europe. The symptoms included urethral discharge, discomfort and inguinal lymphadenomegaly in two patients, and rectal pain, discharge and perianal ulceration in one patient. The diagnosis was confirmed by nucleic acid amplification test performed in samples obtained from urethral discharge and exudate of perianal ulcer; lymphogranuloma venereum 2b serovars were demonstrated in two patients and serovar 2 in one patient. Doxycyclin (daily dose of two times 100 mg for 21 days) resolved the symptoms in all cases. The authors conclude that lymphogranuloma venereum is a diagnostic challenge in Hungary, too. It is important to be aware of the altered clinical features of this disease to prevent complications and spreading.


Asunto(s)
Chlamydia trachomatis/aislamiento & purificación , Infecciones por VIH/complicaciones , Linfogranuloma Venéreo/diagnóstico , Adulto , Fármacos Anti-VIH/uso terapéutico , Chlamydia trachomatis/genética , Diagnóstico Diferencial , Infecciones por VIH/tratamiento farmacológico , Homosexualidad Masculina , Humanos , Hungría , Linfogranuloma Venéreo/complicaciones , Linfogranuloma Venéreo/tratamiento farmacológico , Masculino , Reacción en Cadena de la Polimerasa , Polimorfismo de Longitud del Fragmento de Restricción , Factores de Riesgo , Serogrupo , Pruebas Serológicas , Parejas Sexuales , Enfermedades de Transmisión Sexual/diagnóstico , Viaje
11.
J Clin Med ; 13(6)2024 Mar 07.
Artículo en Inglés | MEDLINE | ID: mdl-38541749

RESUMEN

The overall incidence and prevalence of skin cancer have shown a significant increase worldwide in the last several decades [...].

12.
Int J Infect Dis ; 147: 107186, 2024 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-39122208

RESUMEN

OBJECTIVES: To investigate the effects of doxycycline pre- and post-exposure prophylaxis (doxy-PrEP/PEP) on bacterial sexually transmitted infections (STIs) by conducting a systematic review and meta-analysis. METHODS: PubMed, Embase, and CENTRAL were searched for randomized controlled trials (RCTs), including ongoing studies published until November 7, 2023. Our primary endpoint was the incidence of bacterial STIs measured as the number of visits with an STI per total number of visits. Random-effects model was used to estimate pooled effect sizes. The study was registered with PROSPERO, CRD42023478486. RESULTS: We identified six eligible studies containing data from seven articles and four conference abstracts, enrolling men who have sex with men (MSM), transgender women (TGW), and cisgender women (CGW). The pooled analysis of 1,766 participants with 602 newly diagnosed STIs showed a 56% decrease in the overall STI incidence using doxy-PrEP/PEP (RR = 0.44; 95% CI: 0.30-0.65; I2 = 73%). For doxy-PEP, including MSM and TGW only, the RR observed for overall STI incidence was 0.40 (95% CI: 0.28-0.57; I² = 37%), 0.19 (95% CI: 0.08-0.44; I² = 39%) for chlamydia, 0.23 (0.14-0.36; I² = 0%) for syphilis and 0.55 (95% CI: 0.34-0.87; I² = 41%) for gonorrhea. No serious adverse events were reported in the studies. The certainty of evidence regarding the efficacy of doxy-PEP among MSM and TGW was graded as high. CONCLUSION: Doxy-PEP significantly reduces the number of new cases of chlamydia and syphilis and is potentially effective against gonorrhea, influenced by local resistance patterns. Thus, it is a promising tool in the prevention of bacterial STIs among MSM and TGW.


Asunto(s)
Antibacterianos , Doxiciclina , Enfermedades Bacterianas de Transmisión Sexual , Femenino , Humanos , Masculino , Antibacterianos/uso terapéutico , Infecciones por Chlamydia/prevención & control , Infecciones por Chlamydia/epidemiología , Doxiciclina/uso terapéutico , Gonorrea/prevención & control , Gonorrea/epidemiología , Homosexualidad Masculina , Incidencia , Profilaxis Posexposición/métodos , Profilaxis Pre-Exposición/métodos , Ensayos Clínicos Controlados Aleatorios como Asunto , Enfermedades Bacterianas de Transmisión Sexual/prevención & control , Enfermedades Bacterianas de Transmisión Sexual/epidemiología , Enfermedades Bacterianas de Transmisión Sexual/microbiología , Sífilis/prevención & control , Sífilis/epidemiología , Personas Transgénero
13.
Sci Rep ; 14(1): 7793, 2024 Apr 02.
Artículo en Inglés | MEDLINE | ID: mdl-38565898

RESUMEN

An estimated 70% of critically ill patients receive antibiotics, most frequently beta-lactams. The pharmacokinetic properties of these substances in this patient population are poorly predictable. Therapeutic drug monitoring (TDM) is helpful in making personalized decisions in this field, but its overall impact as a clinical decision-supporting tool is debated. We aimed to evaluate the clinical implications of adjusting beta-lactam dosages based on TDM in the critically ill population by performing a systematic review and meta-analysis of available investigations. Randomized controlled trials and observational studies were retrieved by searching three major databases. The intervention group received TDM-guided beta-lactam treatment, that is, at least one dose reconsideration based on the result of the measurement of drug concentrations, while TDM-unadjusted dosing was employed in the comparison group. The outcomes were evaluated using forest plots with random-effects modeling and subgroup analysis. Eight eligible studies were identified, including 1044 patients in total. TDM-guided beta-lactam treatment was associated with improved clinical cure from infection [odds ratio (OR): 2.22 (95% confidence interval (CI): 1.78-2.76)] and microbiological eradication [OR: 1.72 (CI: 1.05-2.80)], as well as a lower probability of treatment failure [OR: 0.47 (CI: 0.36-0.62)], but the heterogeneity of studies was remarkably high, especially in terms of mortality (70%). The risk of bias was moderate. While the TDM-guided administration of beta-lactams to critically ill patients has a favorable impact, standardized study designs and larger sample sizes are required for developing evidence-based protocols in this field.


Asunto(s)
Antibacterianos , Enfermedad Crítica , Monitoreo de Drogas , Ensayos Clínicos Controlados Aleatorios como Asunto , beta-Lactamas , Humanos , beta-Lactamas/administración & dosificación , beta-Lactamas/farmacocinética , beta-Lactamas/uso terapéutico , Monitoreo de Drogas/métodos , Antibacterianos/administración & dosificación , Antibacterianos/farmacocinética , Antibacterianos/uso terapéutico , Estudios Observacionales como Asunto , Adulto
14.
Sci Rep ; 14(1): 24039, 2024 10 14.
Artículo en Inglés | MEDLINE | ID: mdl-39402279

RESUMEN

Darier disease (DD) is a rare autosomal dominant genodermatosis characterized by erythematous papules and plaques mainly involving sebaceous areas, such as the face, chest and back. Skin microbiome plays an essential role in maintaining skin homeostasis. A disturbed skin microbiome may contribute to the exacerbation of DD. We investigated the bacterial composition of two predilectional sites in DD patients and healthy individuals. We also measured the microbiome composition of deeper skin layers, where diversity was significantly reduced compared to the superficial layer of the skin from the same area. The microbiome of DD patients at lesional sites differed from that of non-lesional skin areas; moreover, non-lesional sites were different from those of the controls. Lesional areas were dominated by Staphylococcus species, such as S. aureus, S. epidermidis, S. hominis, S. sciuri, and S. equorum. However, levels of Cutibacterium acnes (formerly Propionibacterium acnes) and C. acnes subspecies defendens were significantly lower in lesional sites than in non-lesional sites. A significant decrease was measured in the levels of these two bacteria between non-lesional and control samples. Our findings may indicate that alterations in the skin microbiome could contribute to the inflammation of skin lesions in DD.


Asunto(s)
Enfermedad de Darier , Microbiota , Piel , Staphylococcus , Humanos , Masculino , Femenino , Staphylococcus/aislamiento & purificación , Staphylococcus/genética , Piel/microbiología , Piel/patología , Adulto , Enfermedad de Darier/microbiología , Enfermedad de Darier/patología , Persona de Mediana Edad , Propionibacterium acnes/aislamiento & purificación , Estudios de Casos y Controles
15.
Int J Dermatol ; 2024 Oct 02.
Artículo en Inglés | MEDLINE | ID: mdl-39358676

RESUMEN

Mohs micrographic surgery (MMS) is the gold standard for removing basal cell carcinomas (BCCs) due to its ability to guarantee 100% margin evaluation through frozen section histopathology, offering the highest cure rate among current treatments. However, noninvasive imaging technologies have emerged as promising alternatives to clinical assessment for defining presurgical margins. This systematic scoping review examines the efficacy of these imaging modalities, focusing on those approved for clinical use by the United States Food and Drug Administration (FDA) or the European Medicines Agency (EMA). A systematic search of EMBASE, Scopus, PubMed, and the Cochrane Public Library databases identified 11 relevant studies out of 2123 records, encompassing 644 lesions across five imaging techniques. The findings suggest that dermoscopy, high-frequency ultrasound (HFUS), optical coherence tomography (OCT), line-field optical coherence tomography (LC-OCT), and reflectance confocal microscopy (RCM) show potential in detecting BCC margins, which could enhance MMS by providing better preoperative planning, informing patients of expected defect size, aiding in reconstruction decisions, and reducing overall procedure costs. This review discusses the benefits and limitations of each technique, offering insights into how these innovations could influence the future of BCC management. Emerging imaging techniques could enhance MMS by improving BCC margin assessment and reducing costs. Their adoption will depend on price and ease of use.

16.
J Clin Med ; 12(24)2023 Dec 17.
Artículo en Inglés | MEDLINE | ID: mdl-38137810

RESUMEN

(1) Background: Calcinosis of the skin mainly appears in connective tissue disorders (dystrophic subtype). It may cause inflammation, ulceration, pain, and restricted joint mobility. Management is difficult; sodium thiosulfate is one potential therapeutic agent with promising data on intralesional and topical formulation for smaller calcified lesions. There are very limited data on systemic administration. (2) Methods: A retrospective study was conducted at our department to assess the efficacy of oral and intravenous sodium thiosulfate in dystrophic calcinosis between 2003 and 2023. (3) Results: Seven patients were identified, who received systemic sodium thiosulfate (intravenous or oral). The mean duration of calcinosis at the time of administration was 3.8 ± 4 years (range 0-11). Intravenous sodium thiosulfate was administered in doses of 12.5-25 g two or three times during one week of the month for 4.5 ± 3.9 months on average. Orally, 1-8 g was administered daily for 29.1 ± 40.9 months on average. Four of seven patients had a partial response (57.1%). Despite no complete response, pain, ulceration and inflammation frequency decreased, and sodium thiosulfate prevented further progression in responsive patients. (4) Conclusions: Based on our experience and literature data, systemic sodium thiosulfate may be a potential adjunct therapy in calcinosis, especially if inflamed or ulcerating.

17.
Sci Rep ; 13(1): 14658, 2023 09 05.
Artículo en Inglés | MEDLINE | ID: mdl-37670105

RESUMEN

Carney complex (CNC) is an ultrarare disorder causing cutaneous and cardiac myxomas, primary pigmented nodular adrenocortical disease, hypophyseal adenoma, and gonadal tumours. Genetic alterations are often missed under routine genetic testing. Pathogenic variants in PRKAR1A are identified in most cases, while large exonic or chromosomal deletions have only been reported in a few cases. Our aim was to identify the causal genetic alteration in our kindred with a clinical diagnosis of CNC and prove its pathogenic role by functional investigation. Targeted testing of PRKAR1A gene, whole exome and whole genome sequencing (WGS) were performed in the proband, one clinically affected and one unaffected relative. WGS identified a novel, large, 10,662 bp (10.6 kbp; LRG_514t1:c.-10403_-7 + 265del; hg19, chr17:g.66498293_66508954del) deletion in the promoter of PRKAR1A in heterozygous form in the affected family members. The exact breakpoints and the increased enzyme activity in deletion carriers compared to wild type carrier were proved. Segregation analysis and functional evaluation of PKA activity confirmed the pathogenic role of this alteration. A novel deletion upstream of the PRKAR1A gene was proved to be the cause of CNC. Our study underlines the need for WGS in molecular genetic testing of patients with monogenic disorders where conventional genetic analysis fails.


Asunto(s)
Complejo de Carney , Subunidad RIalfa de la Proteína Quinasa Dependiente de AMP Cíclico , Complejo de Carney/diagnóstico , Complejo de Carney/genética , Mixoma/genética , Humanos , Eliminación de Gen , Linaje , Regiones Promotoras Genéticas , Masculino , Femenino , Secuenciación Completa del Genoma , Subunidad RIalfa de la Proteína Quinasa Dependiente de AMP Cíclico/genética
18.
Biomedicines ; 11(10)2023 Oct 06.
Artículo en Inglés | MEDLINE | ID: mdl-37893091

RESUMEN

(1) Background: Genodermatoses are a clinically and genetically heterogenous group of inherited skin disorders. Diagnosing inherited skin diseases is a challenging task due to their rarity and diversity. Dermoscopy is a non-invasive, easily accessible, and rapid tool used in dermatology not only for diagnostic processes but also for monitoring therapeutic responses. Standardized terminologies have been published for its proper use, reproducibility, and comparability of dermoscopic terms. (2) Methods: Here, we aimed to investigate dermoscopic features in various genodermatoses by conducting a systematic review and comparing its results to our own findings, data of patients diagnosed with genodermatoses at the Department of Dermatology, Venereology and Dermatooncology, Semmelweis University. (3) Results: Our systematic search provided a total of 471 articles, of which 83 reported both descriptive and metaphoric dermoscopic terminologies of 14 genodermatoses. The literature data were then compared to the data of 119 patients with 14 genodermatoses diagnosed in our department. (4) Conclusion: Dermoscopy is a valuable tool in the diagnosis of genodermatoses, especially when symptoms are mild. To enable the use of dermoscopy as an auxiliary diagnostic method, existing standardized terminologies should be extended to more genodermatoses.

19.
J Clin Tuberc Other Mycobact Dis ; 31: 100370, 2023 May.
Artículo en Inglés | MEDLINE | ID: mdl-37122612

RESUMEN

Tuberculosis remains a global health concern, as the increasing levels of urban poverty, higher number of immunodeficient patients and the development of drug resistance threaten the overall efforts made to induce a downward trend for the disease. Scrofuloderma, also known as tuberculosis cutis colliquativa is a subtype of cutaneous tuberculosis. Here we detail a case of a 70-year-old female patient presented with unilateral, left-sided, multiple palpable, painful, ulcerated and purulent cervical nodules, accompanied by persistent generalized erythematous popular granuloma annulare-like skin lesions on the upper extremities. Based on the result of the PCR assay, culture, imaging and histopathological findings, the diagnosis of scrofuloderma was established. To achieve prompt diagnosis and early treatment, it is crucial to include scrofuloderma in the differential diagnosis of ulcerated lesions in developed countries as well, and also be aware of the additional clinical symptoms, such as granuloma annulare-like lesions, possibly accompanying cutaneous tuberculosis.

20.
Laryngoscope ; 133(6): 1297-1305, 2023 06.
Artículo en Inglés | MEDLINE | ID: mdl-36169349

RESUMEN

OBJECTIVE: Our study aims to evaluate the effectiveness of mastoid obliteration compared to the canal wall up (CWU) technique in cholesteatoma surgery based on the systematic review of the literature and the meta-analysis of the data. METHODS: The systematic search was performed in four major databases (MEDLINE, Web of Science, Embase, and CENTRAL) on October 14, 2021. Studies comparing the CWU technique and mastoid obliteration were included. The exclusion criteria were less than 12 months follow-up, congenital cholesteatoma, indefinite description of the surgical method, and animal studies. The protocol was registered on Prospero (registration number: CRD42021282485). The risk of bias was evaluated with the ROBINS-I tool. Residual and recurrent disease proportions as primary outcomes, quality of life, ear discharge, infection rates, hearing results, and operation time as secondary outcomes were analyzed. In the quantitative synthesis, the random effect model was used, and heterogeneity was identified. RESULTS: A total of 11 articles with 2077 operations' data were found eligible. All the identified studies were retrospective cohorts. The odds of pooled residual and recurrent disease proportion were significantly lower in the obliteration group compared to CWU (OR = 0.45, CI:0.28;0.80, p = 0.014). However, when separated, the proportion of ears with recurrent (OR = 0.41, CI:0.11;1.57, p = 0.140) or residual (OR = 0.59, CI:0.23, 1.50, p = 0.207) disease did not show a significant difference, even though the odds were quite similar. The qualitative synthesis identified no significant difference in the secondary outcomes, but obliteration elongated the operation time. CONCLUSION: Mastoid obliteration significantly decreased the proportion of residual and recurrent cholesteatoma in pooled analyses compared to the CWU technique with low-quality of data. LEVEL OF EVIDENCE: NA Laryngoscope, 133:1297-1305, 2023.


Asunto(s)
Colesteatoma del Oído Medio , Apófisis Mastoides , Humanos , Estudios Retrospectivos , Apófisis Mastoides/cirugía , Colesteatoma del Oído Medio/cirugía , Calidad de Vida , Timpanoplastia/métodos , Neoplasia Residual/cirugía , Resultado del Tratamiento
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