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1.
Am J Transplant ; 24(7): 1267-1278, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38431077

RESUMO

Pediatric heart failure and transplantation carry associated risks for kidney failure and potential need for kidney transplant following pediatric heart transplantation (KT/pHT). This retrospective, United Network of Organ Sharing study of 10,030 pediatric heart transplants (pHTs) from 1987 to 2020 aimed to determine the incidence of waitlisting for and completion of KT/pHT, risk factors for KT/pHT, and risk factors for nonreceipt of a KT/pHT. Among pHT recipients, 3.4% were waitlisted for KT/pHT (median time of 14 years after pHT). Among those waitlisted, 70% received a KT/pHT, and 18% died on the waitlist at a median time of 0.8 years from KT/pHT waitlisting (median age of 20 years). Moderate-high sensitization at KT/pHT waitlisting (calculated panel reactive antibody, ≥ 20%) was associated with a lower likelihood of KT/pHT (adjusted hazard ratio, 0.67; 95% confidence interval, 0.47-0.95). Waitlisting for heart transplantation simultaneously with kidney transplant (adjusted hazard ratio, 3.73; 95% confidence interval, 2.01-6.92) was associated with increased risk of death on the KT/pHT waitlist. While the prevalence of KT/pHT is low, there is substantial mortality among those waitlisted for KT/pHT. These findings suggest a need to consider novel risk factors for nonreceipt of KT/pHT and death on the waitlist in prioritizing criteria/guidelines for simultaneous heart-kidney transplantation.


Assuntos
Insuficiência Cardíaca , Transplante de Coração , Transplante de Rim , Listas de Espera , Humanos , Transplante de Coração/efeitos adversos , Transplante de Coração/mortalidade , Masculino , Transplante de Rim/efeitos adversos , Feminino , Fatores de Risco , Estudos Retrospectivos , Criança , Prevalência , Adolescente , Pré-Escolar , Adulto Jovem , Seguimentos , Insuficiência Cardíaca/cirurgia , Insuficiência Cardíaca/epidemiologia , Prognóstico , Adulto , Sobrevivência de Enxerto , Lactente , Rejeição de Enxerto/etiologia , Rejeição de Enxerto/epidemiologia , Complicações Pós-Operatórias/epidemiologia , Obtenção de Tecidos e Órgãos , Taxa de Filtração Glomerular
2.
Pediatr Cardiol ; 45(3): 552-559, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38261062

RESUMO

Multisystem inflammatory syndrome in children (MIS-C) is a rare condition following COVID-19 infection. Cardiac involvement is common and includes left ventricular systolic dysfunction, cardiac marker elevation, electrocardiogram (ECG) changes, and coronary artery dilation. This single-center retrospective cohort study compares cardiovascular disease between three major SARS-CoV-2 variants and describes the evolution of findings in medium-term follow-up. Of 69 total children (mean age 9.2 years, 58% male), 60 (87%) had cardiovascular involvement with the most common features being troponin elevation in 33 (47%) and left ventricular dysfunction in 22 (32%). Based on presumed infection timing, 61 patients were sorted into variant cohorts of Alpha, Delta, and Omicron. Hospitalization was longer for the Delta group (7.7 days) vs Alpha (5.1 days, p = 0.0065) and Omicron (4.9 days, p = 0.012). Troponin elevation was more common in Delta compared to Alpha (13/20 vs 7/25, p = 0.18), and cumulative evidence of cardiac injury (echocardiographic abnormality and/or troponin elevation) was more common in Delta (17/20) compared with Alpha (12/25, p = 0.013) or Omicron (8/16, p = 0.034). Forty-nine (77%) of the original cohort (n = 69) had no cardiac symptoms or findings beyond 3 months post-hospitalization. Cardiac MRI was performed in 28 patients (between 3 and 6 months post-hospitalization) and was normal in 25 patients (89%). The differences in the variant cohorts may be due to alteration of the immune landscape with higher severity of COVID-19 infection. Despite overall reassuring cardiac outcomes, it is important to note the variability of presentation and remain vigilant with future variants.


Assuntos
COVID-19/complicações , Aneurisma Coronário , Criança , Humanos , Masculino , Feminino , SARS-CoV-2 , Estudos Retrospectivos , Vasos Coronários , Troponina , Síndrome de Resposta Inflamatória Sistêmica/diagnóstico
3.
BMC Med Educ ; 24(1): 994, 2024 Sep 12.
Artigo em Inglês | MEDLINE | ID: mdl-39267024

RESUMO

BACKGROUND: Breaking bad news is one of the most difficult aspects of communication in medicine. The objective of this study was to assess the relevance of a novel active learning course on breaking bad news for fifth-year students. METHODS: Students were divided into two groups: Group 1, the intervention group, participated in a multidisciplinary formative discussion workshop on breaking bad news with videos, discussions with a pluri-professional team, and concluding with the development of a guide on good practice in breaking bad news through collective intelligence; Group 2, the control group, received no additional training besides conventional university course. The relevance of discussion-group-based active training was assessed in a summative objective structured clinical examination (OSCE) station particularly through the students' communication skills. RESULTS: Thirty-one students were included: 17 in Group 1 and 14 in Group 2. The mean (range) score in the OSCE was significantly higher in Group 1 than in Group 2 (10.49 out of 15 (7; 13) vs. 7.80 (4.75; 12.5), respectively; p = 0.0007). The proportion of students assessed by the evaluator to have received additional training in breaking bad news was 88.2% (15 of the 17) in Group 1 and 21.4% (3 of the 14) in Group 2 (p = 0.001). The intergroup differences in the Rosenberg Self-Esteem Scale and Jefferson Scale of Empathy scores were not significant, and both scores were not correlated with the students' self-assessed score for success in the OSCE. CONCLUSION: Compared to the conventional course, this new active learning method for breaking bad news was associated with a significantly higher score in a summative OSCE. A longer-term validation study is needed to confirm these exploratory data.


Assuntos
Relações Médico-Paciente , Aprendizagem Baseada em Problemas , Estudantes de Medicina , Revelação da Verdade , Humanos , Estudantes de Medicina/psicologia , Feminino , Masculino , Comunicação , Educação de Graduação em Medicina/métodos , Avaliação Educacional , Competência Clínica
4.
Blood ; 138(23): 2396-2407, 2021 12 09.
Artigo em Inglês | MEDLINE | ID: mdl-34424959

RESUMO

Mastocytosis is a heterogeneous disease characterized by an abnormal accumulation of mast cells (MCs) in 1 or several organs. Although a somatic KIT D816V mutation is detected in ∼85% of patients, attempts to demonstrate its oncogenic effect alone have repeatedly failed, suggesting that additional pathways are involved in MC transformation. From 3 children presenting with both Greig cephalopolysyndactyly syndrome (GCPS, Mendelian Inheritance in Man [175700]) and congenital mastocytosis, we demonstrated the involvement of the hedgehog (Hh) pathway in mastocytosis. GCPS is an extremely rare syndrome resulting from haploinsufficiency of GLI3, the major repressor of Hh family members. From these familial cases of mastocytosis, we demonstrate that the Hh pathway is barely active in normal primary MCs and is overactive in neoplastic MCs. GLI3 and KIT mutations had a synergistic, tumorigenic effect on the onset of mastocytosis in a GCPS mouse model. Finally, Hh inhibitors suppressed neoplastic MC proliferation in vitro and extend the survival time of mice with aggressive systemic mastocytosis (ASM). This work revealed, for the first time, the involvement of Hh signaling in the pathophysiology of mastocytosis and demonstrated the cooperative effects of the KIT and Hh oncogenic pathways in mice with ASM, leading to the identification of new promising therapeutic targets.


Assuntos
Acrocefalossindactilia/complicações , Proteínas Hedgehog/metabolismo , Mastocitose/complicações , Transdução de Sinais , Acrocefalossindactilia/metabolismo , Animais , Células Cultivadas , Criança , Humanos , Mastocitose/metabolismo , Camundongos Endogâmicos C57BL , Camundongos SCID , Células Tumorais Cultivadas
5.
J Nurs Manag ; 30(7): 2945-2956, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-35560480

RESUMO

AIM: This study aims to explore nurses' perceptions of hourly rounding in Jordanian hospitals. BACKGROUND: Hourly rounding is a standardized and systematic process conducted by nurses to anticipate and address needs in hospitalized patients. The evidence on hourly rounding is mixed, and research is needed to affirm the benefits of implementing hourly rounding across different contexts. METHOD: A cross-sectional correlational design was used. A convenient sample of 1378 nurses was recruited from one military hospital, two university-affiliated hospitals, four governmental hospitals and four private hospitals in Jordan. The Hourly Rounding Questionnaire was used to collect data. Descriptive statistics, t test, one-way ANOVA and Kruskal-Wallis H test were used to analyse the data. RESULTS: The highest agreements between nurses were on the items related to the implementation of hourly rounding in terms of 'preventing patient falls' 1211 (87.9%), 'preventing hospital-acquired pressure ulcers' 1201 (87.2%) and 'addressing patients' position' 1199 (87%). The lowest agreements between nurses were on the items related to the involvement of nurses in the decision-making process and sense of ownership 268 (19.4%) and the availability of continued support and resources 239 (17.3%). Female nurses, nurses who often work on a shift rotation, nurses working in private hospitals and respiratory units had a positive perception of hourly rounding. IMPLICATIONS FOR NURSING MANAGEMENT: Findings will inform nursing leaders and policy developers about the implementation of hourly rounding from nurses' perspectives. A protocol should accompany hourly rounding for robust evaluation to measure the impact of this process change with the involvement of nurses in the decision-making process.


Assuntos
Enfermeiras e Enfermeiros , Recursos Humanos de Enfermagem Hospitalar , Humanos , Feminino , Jordânia , Estudos Transversais , Inquéritos e Questionários , Hospitais Públicos
6.
Br J Dermatol ; 184(3): 532-537, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-32479644

RESUMO

BACKGROUND: Netherton syndrome (NS) is a rare disease caused by SPINK5 mutations, featuring variable skin and hair involvement and, in many cases, allergic manifestations with a risk of lethality, particularly in infants. The clinical management of NS is challenging. OBJECTIVES: To analyse the clinical manifestations of a cohort of infants with NS managed in a reference centre and to draw up recommendations for management. METHODS: We conducted a monocentric analysis of patients with NS. The inclusion criteria were management in our reference centre, a histologically or molecularly confirmed diagnosis of NS and available epidemiological, clinical and laboratory data. RESULTS: A total of 43 patients with NS were included. Hypernatraemia was reported in 23 cases (54%) and associated with a greater likelihood of enteral and/or parenteral nutritional support (P < 0.001). Moreover, hypernatraemia was more frequent in patients with skin manifestations at birth (P = 0.026) and in patients bearing the c.153delT mutation in SPINK5 exon 3 (P = 0.014). The need for enteral and/or parenteral nutritional support was associated with a history of hypernatraemic dehydration (P < 0.001). Several unexpected extracutaneous complications were recorded, and new mutations were reported. The death rate (9% overall) was higher among the subset of patients bearing the c.153delT deletion. CONCLUSIONS: Our data emphasize that neonatal NS is a severe and sometimes lethal multisystem disorder. Patients have a high risk of variable metabolic anomalies (i.e. lethal hypernatraemia) and therefore have major nutritional needs. Cases of NS associated with c.153delT are particularly severe. Unexpected clinical manifestations broadened the phenotypic spectrum of NS. We provide recommendations on the management of the life-threatening manifestations of NS in neonates based on our multidisciplinary experience.


Assuntos
Síndrome de Netherton , Cabelo , Humanos , Lactente , Recém-Nascido , Mutação , Síndrome de Netherton/genética , Síndrome de Netherton/terapia , Proteínas Secretadas Inibidoras de Proteinases/genética , Inibidor de Serinopeptidase do Tipo Kazal 5
7.
J Eur Acad Dermatol Venereol ; 35(7): 1449-1459, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-34042219

RESUMO

Albinism is a worldwide genetic disorder caused by mutations in at least 20 genes, identified to date, that affect melanin production or transport in the skin, hair and eyes. Patients present with variable degrees of diffuse muco-cutaneous and adnexal hypopigmentation, as well as ocular features including nystagmus, misrouting of optic nerves and foveal hypoplasia. Less often, albinism is associated with blood, immunological, pulmonary, digestive and/or neurological anomalies. Clinical and molecular characterizations are essential in preventing potential complications. Disease-causing mutations remain unknown for about 25% of patients with albinism. These guidelines have been developed for the diagnosis and management of syndromic and non-syndromic forms of albinism, based on a systematic review of the scientific literature. These guidelines comprise clinical and molecular characterization, diagnosis, therapeutic approach and management.


Assuntos
Albinismo Oculocutâneo , Albinismo , Nistagmo Patológico , Albinismo/genética , Albinismo Oculocutâneo/diagnóstico , Albinismo Oculocutâneo/genética , Albinismo Oculocutâneo/terapia , Humanos , Melaninas , Guias de Prática Clínica como Assunto , Revisões Sistemáticas como Assunto , Transtornos da Visão
8.
Ann Dermatol Venereol ; 148(4): 246-250, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34217528

RESUMO

BACKGROUND: Long-term and ongoing support in accordance with the changing needs of patients and their families is one of the main components of patient care, including therapeutic patient education (TPE). OBJECTIVE: To co-construct a TPE program for albinism with all those involved in the management of albinism patients. METHODS: Eight steps have been defined for the co-construction process: 1) identify all the relevant experts and invite them to participate in the construction of a TPE program to improve care for and support of patients with albinism, 2) review and analyse all publications regarding TPE for albinism, 3) conduct semi-structured interviews with the patients' parents, 4) conduct brainstorming meetings with the participating experts for an exchange of experience and expertise, 5) elaborate the program's concrete content with the experts, 6) draw up a TPE skills checklist, 7) create TPE educational tools to facilitate learning, 8) review and summarize each step of the co-construction protocol. RESULTS: Co-construction of a TPE program for children, adolescents, and young adults with albinism, and their parents. CONCLUSION: Strengths and advantages of the co-construction process include: i) highlighting of the experiential knowledge mentioned in the repository, ii) multiplicity of points of view and perspectives, iii) rapid improvement in TPE training both for the association and the patients, iv) awareness of the shift caregivers' position with regards to TPE and recognition of the polysemy of their discourse. The TPE program for albinism has been authorized since 2018.


Assuntos
Albinismo , Educação de Pacientes como Assunto , Adolescente , Criança , Humanos , Pais
9.
Br J Dermatol ; 2020 Sep 10.
Artigo em Inglês | MEDLINE | ID: mdl-32911566

RESUMO

Inherited epidermolysis bullosa defines a heterogeneous group of genodermatoses characterized by skin and/or mucosa fragility resulting in blistering. The junctional variant (JEB) is associated with mutations affecting the genes expressing the components of the dermo-epidermal junction (DEJ) [1-2]. We report 34 JEB patients with COL17A1 genetic mutations diagnosed in our Center between 1993 and 2019. Medical and biological records were collected with a standardized questionnaire.

10.
J Eur Acad Dermatol Venereol ; 34(7): 1415-1424, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32678511

RESUMO

BACKGROUND: Incontinentia pigmenti (IP) is a rare multisystemic X-linked dominant genetic disorder characterized by highly diagnostic skin lesions. The disease can be misdiagnosed in infants, and complications affecting the eyes and/or the brain can be severe. Our objective was to highlight the urgency of an appropriate diagnosis and management strategy, as soon as the first symptoms appear, and the need for a well-codified monitoring strategy for each child. METHODS: An in-depth literature review using a large number of databases was conducted. The selection criteria for articles were literature review articles on the disease, case series and retrospective studies based on the disease, clinical studies (randomized or not) on treatment, articles discussing patient care and management (treatment, diagnosis, care pathways), and recommendations. The research period was from 2000 until 2018. A group of multidisciplinary experts in IP management was involved, issued from different healthcare providers of the European Network for Rare Skin Diseases (ERN-Skin). The final recommendations have been submitted to two patient representative associations and to a general practitioner and a neonatal specialist prior to their finalization. RESULTS AND CONCLUSION: The diagnosis of IP must be promptly performed to detect potential extracutaneous manifestations, thus allowing the timely implementation of specific therapeutic and monitoring strategies. Eye involvement can be a therapeutic urgency, and central nervous system (CNS) involvement requires a very rigorous long-term follow-up. Assessments and patient support should take into account the possible co-occurrence of various symptoms (including motor, visual and cognitive symptoms).


Assuntos
Incontinência Pigmentar , Encéfalo , Criança , Consenso , Humanos , Incontinência Pigmentar/diagnóstico , Incontinência Pigmentar/genética , Incontinência Pigmentar/terapia , Lactente , Recém-Nascido , Estudos Retrospectivos , Pele
11.
Ann Dermatol Venereol ; 147(6-7): 429-438, 2020.
Artigo em Francês | MEDLINE | ID: mdl-32299624

RESUMO

INTRODUCTION: Psoriasis affects 0.5% of children in Europe, with moderate to severe clinical forms in 15-35% of cases warranting the use of systemic treatments. Few treatments are licensed for childhood psoriasis. In this study, we analyzed the frequency of such prescriptions. MATERIALS AND METHODS: Our study was based on 3 retrospective cohort trials conducted in France between 2012 and 2018: χ-Psocar (313 children with psoriasis seen in hospitals), PsoLib (207 children seen in a private practice), and BiPe (134 children on biotherapies). Our evaluation was centered on off-label use. To avoid duplicates between cohorts, analysis focused on each cohort independently. RESULTS: In the χ-Psocar study, in 34.8% of cases, use of at least one off-label treatment, mainly topical vitamin D (36.0%), and systemic treatments (methotrexate and cyclosporine) was noted, on account of either the clinical type of psoriasis (13.7%) or patient age (24.6%). In the PsoLib study, in 41.5% of cases, at least one off-label treatment was noted, mainly combined calcipotriol-betamethasone (24.2%), ciclopirox shampoo (7.2%) and systemic treatments (n=20). The main reason was patient age (41.5%). In the BiPe study, in 97.0% of cases, at least one off-label treatment was noted. These prescriptions mainly concerned a combination of calcipotriol-betamethasone (68.7%) and tacrolimus (11.2%) along with systemic treatment comprising methotrexate, cyclosporin, methoxsalen or apremilast (n=125), but also biotherapies (n=85). The biotherapies were used off-label since at that time they had not yet been granted marketing authorisation. DISCUSSION: This study focused on 3 cohorts of children with psoriasis seen either in private practice or in a hospital setting, and it involved all types of treatment. Off-label prescriptions ranged from one-third to almost 100% of the children, depending on the individual cohorts. The prescribed drugs were topical treatments, conventional systemic drugs and biotherapies. Off-label prescription is not strictly prohibited in France provided it is within a well-defined regulatory framework. Where there is a rich bibliography, confident recommendations may be made. Unfortunately, in childhood psoriasis, the literature and recommendations are very limited, leaving prescribers with considerable individual responsibilities. Review of the license concerning children with psoriasis, a push to conduct therapeutic studies and the drafting of recommendations all appear necessary.


Assuntos
Uso Off-Label/estatística & dados numéricos , Psoríase/tratamento farmacológico , Adolescente , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Humanos , Masculino , Estudos Retrospectivos
12.
J Contemp Dent Pract ; 21(1): 78-82, 2020 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-32381806

RESUMO

AIM: This study was aimed to evaluate the oral health status and knowledge of diabetic and nondiabetic patients attending dental clinic at College of Dentistry, Hail, the Kingdom of Saudi Arabia. MATERIALS AND METHODS: It was an observational cross-sectional study. Using nonprobability convenient sampling technique, data were collected from 202 respondents. A total of 202 diabetic and nondiabetic patients were screened for the study. Data were collected by interview using the structured, self-administered questionnaire, and assessment of oral health status was done by clinical examination. The collected data were analyzed using IBM SPSS software. The data were displayed as numbers and percentages and association among the variable of interests was measured using Pearson Chi-square. RESULTS: Of the 202 patients, 102 (50.6%) were males and 100 (49.4%) were females. Majority of the patients, 71 (35.2%) were in the age-group of 30-40 years. In all, 128 (63.4%) participants knew the effect of diabetes mellitus (DM) on oral health, 167 (82.7%) knew that diabetic patients needed special healthcare, 152 (75.25%) had never spoken to their doctors about oral health, and 164 (81.19%) had never spoken to their dentists regarding diabetes. CONCLUSION: The complications associated with oral health are more common in diabetic patients when compared to the nondiabetic patients. This is the case in both male and female patients visiting the College of Dentistry in the Hail region. CLINICAL SIGNIFICANCE: Diabetes mellitus is associated with increased susceptibility to oral infections especially periodontal disease. Role of a general dentist in diagnosis and raising patient awareness toward DM and its effects on oral health need to be emphasized.


Assuntos
Clínicas Odontológicas , Diabetes Mellitus , Estudos Transversais , Odontologia , Feminino , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Masculino , Saúde Bucal , Arábia Saudita
13.
Br J Dermatol ; 180(3): 484-495, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-29897631

RESUMO

These guidelines for the management of congenital ichthyoses have been developed by a multidisciplinary group of European experts following a systematic review of the current literature, an expert conference held in Toulouse in 2016, and a consensus on the discussions. These guidelines summarize evidence and expert-based recommendations and intend to help clinicians with the management of these rare and often complex diseases. These guidelines comprise two sections. This is part two, covering the management of complications and the particularities of some forms of congenital ichthyosis.


Assuntos
Consenso , Dermatologia/normas , Eritrodermia Ictiosiforme Congênita/terapia , Ictiose/terapia , Doenças do Prematuro/terapia , Dermatologia/métodos , Europa (Continente) , Humanos , Eritrodermia Ictiosiforme Congênita/complicações , Ictiose/complicações
14.
Br J Dermatol ; 180(2): 272-281, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30216406

RESUMO

These guidelines for the management of congenital ichthyoses have been developed by a multidisciplinary group of European experts following a systematic review of the current literature, an expert conference held in Toulouse in 2016 and a consensus on the discussions. They summarize evidence and expert-based recommendations and are intended to help clinicians with the management of these rare and often complex diseases. These guidelines comprise two sections. This is part one, covering topical therapies, systemic therapies, psychosocial management, communicating the diagnosis and genetic counselling.


Assuntos
Terapia Comportamental/normas , Consenso , Fármacos Dermatológicos/uso terapêutico , Dermatologia/normas , Eritrodermia Ictiosiforme Congênita/terapia , Administração Oral , Administração Tópica , Terapia Comportamental/métodos , Dermatologia/métodos , Europa (Continente) , Aconselhamento Genético/normas , Humanos , Eritrodermia Ictiosiforme Congênita/diagnóstico , Eritrodermia Ictiosiforme Congênita/psicologia , Qualidade de Vida , Apoio Social , Revisões Sistemáticas como Assunto
15.
Br J Dermatol ; 180(1): 172-180, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30141192

RESUMO

BACKGROUND: Data on dermatological manifestations of cardiofaciocutaneous syndrome (CFCS) remain heterogeneous and almost without expert dermatological classification. OBJECTIVES: To describe the dermatological manifestations of CFCS; to compare them with the literature findings; to assess those discriminating CFCS from other RASopathies, including Noonan syndrome (NS) and Costello syndrome (CS); and to test for dermatological phenotype-genotype correlations. METHODS: We performed a 4-year, large, prospective, multicentric, collaborative dermatological and genetic study. RESULTS: Forty-five patients were enrolled. Hair abnormalities were ubiquitous, including scarcity or absence of eyebrows and wavy or curly hair in 73% and 69% of patients, respectively. Keratosis pilaris (KP), ulerythema ophryogenes (UO), palmoplantar hyperkeratosis (PPHK) and multiple melanocytic naevi (MMN; over 50 naevi) were noted in 82%, 44%, 27% and 29% of patients, respectively. Scarcity or absence of eyebrows, association of UO and PPHK, diffuse KP and MMN best differentiated CFCS from NS and CS. Oral acitretin may be highly beneficial for therapeutic management of PPHK, whereas treatment of UO by topical sirolimus 1% failed. No significant dermatological phenotype-genotype correlation was determined. CONCLUSIONS: A thorough knowledge of CFCS skin manifestations would help in making a positive diagnosis and differentiating CFCS from CS and NS.


Assuntos
Displasia Ectodérmica/diagnóstico , Insuficiência de Crescimento/diagnóstico , Cardiopatias Congênitas/diagnóstico , Acitretina/administração & dosagem , Administração Cutânea , Administração Oral , Adolescente , Criança , Pré-Escolar , Síndrome de Costello/diagnóstico , Diagnóstico Diferencial , Displasia Ectodérmica/tratamento farmacológico , Displasia Ectodérmica/genética , Fácies , Insuficiência de Crescimento/tratamento farmacológico , Insuficiência de Crescimento/genética , Feminino , França , Estudos de Associação Genética , Cardiopatias Congênitas/tratamento farmacológico , Cardiopatias Congênitas/genética , Humanos , MAP Quinase Quinase 1/genética , MAP Quinase Quinase 2/genética , Masculino , Mutação , Síndrome de Noonan/diagnóstico , Estudos Prospectivos , Proteínas Proto-Oncogênicas B-raf/genética , Sirolimo/administração & dosagem , Resultado do Tratamento , Adulto Jovem
16.
Br J Dermatol ; 180(6): 1438-1448, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-30417923

RESUMO

BACKGROUND: Data on dermatological manifestations of Noonan syndrome (NS) remain heterogeneous and are based on limited dermatological expertise. OBJECTIVES: To describe the dermatological manifestations of NS, compare them with the literature findings, and test for dermatological phenotype-genotype correlations with or without the presence of PTPN11 mutations. METHODS: We performed a large 4-year, prospective, multicentric, collaborative dermatological and genetic study. RESULTS: Overall, 129 patients with NS were enrolled, including 65 patients with PTPN11-NS, 34 patients with PTPN11-NS with multiple lentigines (NSML), and 30 patients with NS who had a mutation other than PTPN11. Easy bruising was the most frequent dermatological finding in PTPN11-NS, present in 53·8% of patients. Multiple lentigines and café-au-lait macules (n ≥ 3) were present in 94% and 80% of cases of NSML linked to specific mutations of PTPN11, respectively. Atypical forms of NSML could be associated with NS with RAF1 or NRAS mutations. In univariate analysis, patients without a PTPN11 mutation showed (i) a significantly higher frequency of keratinization disorders (P = 0·001), including keratosis pilaris (P = 0·005), ulerythema ophryogenes (P = 0·0001) and palmar and/or plantar hyperkeratosis (P = 0·06, trend association), and (ii) a significantly higher frequency of scarce scalp hair (P = 0·035) and scarce or absent eyelashes (P = 0·06, trend association) than those with PTPN11 mutations. CONCLUSIONS: The cutaneous phenotype of NS with a PTPN11 mutation is generally mild and nonspecific, whereas the absence of a PTPN11 mutation is associated with a high frequency of keratinization disorders and hair abnormalities.


Assuntos
Estudos de Associação Genética , Síndrome de Noonan/complicações , Proteína Tirosina Fosfatase não Receptora Tipo 11/genética , Dermatopatias/genética , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Análise Mutacional de DNA , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Mutação , Síndrome de Noonan/genética , Fenótipo , Estudos Prospectivos , Adulto Jovem
19.
J Eur Acad Dermatol Venereol ; 33(6): 1158-1163, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30702174

RESUMO

BACKGROUND: Autoimmune bullous dermatoses (AIBDs) in children are uncommon, and their long-term evolution remains unknown. OBJECTIVE: The aim of this retrospective study was to characterize the long-term prognosis of AIBDs that started during childhood. METHODS: We conducted a monocentric retrospective study, in the French dermatology centre, by including all children affected by AIBDs. The long-term outcome was obtained through a phone call questionnaire. RESULTS: Sixty-three patients were included from January 1993 to December 2015, 34 female and 29 males: 27 Linear immunoglobulin A disease (LAD), 12 bullous pemphigoid (BP), 12 pemphigus, 8 herpetiform dermatitis (DH) and 4 epidermolysis bullosa aquisita (EBA). The mean age was 4.7 years old. Twenty-five patients were lost during the follow-up. For the 38 remaining patients, the mean follow-up duration for all pathologies was 6.6 years. Twenty-nine of them had at least one relapse. Late relapses were observed in two cases of DH and six cases of pemphigus (7-34 months). The mean treatment duration was 30.6 months with variability according to the AIBDs. Topical corticosteroids were used alone, effectively, for seven patients and in association with other treatment in 19 patients in complete remission. Complete remission was noted in 34/38 children with a follow-up of 4.4 years (0.08-19.5). The mean duration to complete remission was 30.5 months (6-114 months). Late nasal synechiae were reported in one EBA only. There was no significant associated comorbidity, but an association with a primary immune deficiency (PID) was observed in two cases. CONCLUSION: Childhood AIBDs appear to be of good overall prognosis but a long-term follow-up is mandatory, as relapses can be late, except for BP. The use of topical corticosteroids is frequently effective alone or in association. The association with PID leads to think about the possibility of a possible underlying dysimmunity in the child.


Assuntos
Doenças Autoimunes/patologia , Dermatopatias Vesiculobolhosas/patologia , Adolescente , Idade de Início , Doenças Autoimunes/tratamento farmacológico , Criança , Pré-Escolar , Fármacos Dermatológicos/uso terapêutico , Feminino , Humanos , Imunossupressores/uso terapêutico , Lactente , Recém-Nascido , Masculino , Prognóstico , Estudos Retrospectivos , Dermatopatias Vesiculobolhosas/tratamento farmacológico
20.
J Eur Acad Dermatol Venereol ; 33(10): 1984-1992, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-30883928

RESUMO

BACKGROUND: Three biotherapies - etanercept, adalimumab and ustekinumab - are licensed in childhood psoriasis. The few data available on their efficacy and tolerance are mainly derived from industry trials. However, biological drug survival impacts long-term performance in real-life settings. OBJECTIVE: The objective of this study was to evaluate the survival rates of biological therapies in children with psoriasis in real-life conditions. Secondary objectives were to evaluate the factors associated with the choice of the biological therapy and to report severe adverse events. MATERIALS AND METHODS: This study was an observational retrospective study. Data were extracted from the clinical records of 134 children. Kaplan-Meier estimates were used to analyse drug survival overall and in subgroups of plaque psoriasis, bio-naïve and non-naïve patients. RESULTS: We analysed 184 treatment courses: 70 with etanercept, 68 with adalimumab and 46 with ustekinumab. Factors associated with the choice of first-line biological agent were age at initiation (younger for adalimumab, P < 0.0001), age at onset of psoriasis (younger for adalimumab and etanercept, P = 0.03) and baseline Psoriasis Assessment Severity Index and Physician global assessment (both higher for adalimumab, P < 0.001). Drug survival rates were higher for ustekinumab than for adalimumab and etanercept (P < 0.0001) for all treatment and all psoriasis types, plaque-type psoriasis (P = 0.0003), patients naïve for biological agents (P = 0.0007) and non-naïve patients (P = 0.007). We reported eight serious adverse events (SAEs): severe infections (n = 3), significant weight gain (n = 2), psoriasis flare (n = 1) and malaise (n = 1). Biological therapy was discontinued in three children (one with psoriasis flare and two with weight gain). Only the two cases of weight gain resulted in an unfavourable outcome. CONCLUSIONS: Our real-life comparative study found that ustekinumab had the best drug survival outcome. The profile of SAEs in children was comparable to that in adults. These results will assist dermatologists in the decision-making process when choosing treatment options for children with psoriasis in daily practice.


Assuntos
Adalimumab/uso terapêutico , Fármacos Dermatológicos/uso terapêutico , Etanercepte/uso terapêutico , Psoríase/tratamento farmacológico , Ustekinumab/uso terapêutico , Adalimumab/efeitos adversos , Adolescente , Fatores Etários , Produtos Biológicos/uso terapêutico , Criança , Tomada de Decisão Clínica , Fármacos Dermatológicos/efeitos adversos , Etanercepte/efeitos adversos , Feminino , Humanos , Estimativa de Kaplan-Meier , Masculino , Adesão à Medicação , Estudos Retrospectivos , Índice de Gravidade de Doença , Ustekinumab/efeitos adversos
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