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1.
Pediatr Dermatol ; 41(2): 298-301, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-37807602

RESUMO

Mevalonate kinase deficiency is a group of rare metabolic autoinflammatory disorders that present with recurrent fevers, abdominal pain, arthralgias, adenopathy, and a variety of cutaneous manifestations. The skin findings may mimic cellulitis, erythema elevatum diutinum, IgA vasculitis, and Sweet syndrome, and there is often a morbilliform or urticarial rash and aphthous stomatitis. Mevalonate kinase deficiency is one of the identified monogenic variants that can cause very early onset inflammatory bowel disease (IBD). We present a rare case of a patient with mevalonate kinase deficiency, neonatal Sweet syndrome, and infantile-onset IBD, who has been successfully treated with canakinumab therapy.


Assuntos
Doenças Inflamatórias Intestinais , Deficiência de Mevalonato Quinase , Síndrome de Sweet , Vasculite Leucocitoclástica Cutânea , Recém-Nascido , Humanos , Deficiência de Mevalonato Quinase/complicações , Deficiência de Mevalonato Quinase/diagnóstico , Deficiência de Mevalonato Quinase/tratamento farmacológico , Doenças Inflamatórias Intestinais/complicações , Doenças Inflamatórias Intestinais/diagnóstico , Doenças Inflamatórias Intestinais/tratamento farmacológico
2.
Dermatol Online J ; 28(6)2022 Dec 15.
Artigo em Inglês | MEDLINE | ID: mdl-36809098

RESUMO

Ibrutinib is an oral Bruton tyrosine kinase inhibitor approved for use in patients with B-cell malignancies and has been shown to increase progression-free survival in patients with chronic lymphocytic leukemia (CLL). Ibrutinib is known to increase bleeding risk in patients with CLL. We report a patient with CLL on ibrutinib who experienced significant and prolonged bleeding after a routine superficial tangential shave biopsy for suspected squamous cell carcinoma. This prompted temporary cessation of this medication for the patient's subsequent Mohs surgery. This case demonstrates the possible severity of bleeding following routine dermatologic procedures. It is important to consider holding the medication prior to planned procedures such as dermatologic surgery.


Assuntos
Leucemia Linfocítica Crônica de Células B , Humanos , Adenina/uso terapêutico , Piperidinas/uso terapêutico , Biópsia , Inibidores de Proteínas Quinases/efeitos adversos
3.
J Assist Reprod Genet ; 37(2): 311-320, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31965419

RESUMO

PURPOSE: To determine the prevalence of allergy in couples undergoing in vitro fertilization (IVF) and the relationship between having allergy and IVF treatment outcomes. DESIGN: A retrospective cohort study of female infertility patients aged 20-49 years and their male partners undergoing IVF cycles from August 2010 to December 2016 in an academic fertility program. RESULTS: Prevalence data was collected for 493 couples (935 cycles). Over half of the female patients (54%) had at least one reported allergy versus the cited US prevalence of 10-30%. Antibiotic (54.7%) and non-antibiotic medication (39.2%) were the most common female allergy subtypes. Fewer male patients reported allergy (21.7%). Data on ß-hCG outcomes were calculated for 841 cycles from 458 couples with no significant relationship found except for number of cycles including ICSI and number of embryos transferred per cycle (1.81 for those without allergy vs 2.07 for those with allergy, p = 0.07). Female patients with allergy were marginally statistically more likely to have a negative ß-hCG (p = 0.07) and less likely to have a successful cycle (p = 0.06). When allergy subgroups were evaluated, there were no significant differences between groups except for a higher number of embryos transferred in women with environmental/other allergies (p = 0.02). CONCLUSION: The prevalence of allergy among patients seeking infertility treatment is high compared with the general population. However, allergy was not found to be associated with IVF cycle outcomes. These findings are likely primarily limited by difficulty in defining specific allergy types within a retrospective study.


Assuntos
Transferência Embrionária , Fertilização in vitro , Hipersensibilidade/epidemiologia , Infertilidade Feminina/epidemiologia , Adulto , Antibacterianos/efeitos adversos , Antibacterianos/uso terapêutico , Coeficiente de Natalidade , Feminino , Humanos , Hipersensibilidade/complicações , Hipersensibilidade/patologia , Infertilidade Feminina/complicações , Infertilidade Feminina/tratamento farmacológico , Infertilidade Feminina/patologia , Pessoa de Meia-Idade , Gravidez , Taxa de Gravidez , Injeções de Esperma Intracitoplásmicas/métodos , Adulto Jovem
4.
JEADV Clin Pract ; 2022 Dec 13.
Artigo em Inglês | MEDLINE | ID: mdl-38607911

RESUMO

The SARS-CoV-2 pandemic was announced in March 2020, with the first vaccines becoming available later that year. Although generally well tolerated, there have been reports of skin reactions occurring after receiving COVID-19 vaccines, with a rare occurrence of granuloma annulare. Granuloma annulare can occur secondarily to herpes zoster infection in a phenomenon known as Wolf's isotopic response (WIR). WIR has been described to often occur after herpes zoster virus infection, at the location of the healed shingles rash, termed 'post-herpetic isotopic response' (PHIR). We present the first reported case of PHIR with granuloma annulare after the Moderna COVID-19 vaccination series. This reported reaction should not limit receipt of the COVID-19 vaccine, but awareness of this association can minimise additional work-up and treatment.

5.
J Investig Med High Impact Case Rep ; 10: 23247096221098333, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35593429

RESUMO

Lyme disease is commonly encountered in endemic areas of the United States harboring the causal organism Borrelia burgdorferi. Lyme carditis can manifest in early disseminated infections, usually as atrioventricular nodal blockade. Timely antibiotic therapy typically suppresses myocardial inflammation and reverses cardiac conduction disturbances. We present a case of a previously healthy male who presented to the emergency department with non-prodromal syncope, multifocal annular rashes, and antecedent inflammatory knee pain and effusion, found to have positive 2-tier Lyme testing and pause-dependent polymorphic ventricular tachycardia leading to cardiac arrest. Lyme carditis occurs in early disseminated infections but rarely leads to cardiac arrest. Acute management is entrained in well-established guidelines for therapy, and together with risk stratification scoring can be considered by emergency care physicians in the workup of undifferentiated syncope with concern for Lyme disease with cardiac involvement.


Assuntos
Parada Cardíaca , Doença de Lyme , Miocardite , Taquicardia Ventricular , Parada Cardíaca/complicações , Humanos , Doença de Lyme/complicações , Doença de Lyme/diagnóstico , Doença de Lyme/tratamento farmacológico , Masculino , Miocardite/complicações , Miocardite/diagnóstico , Dor , Síncope , Taquicardia Ventricular/diagnóstico , Taquicardia Ventricular/etiologia , Estados Unidos
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