RESUMO
Melanocytic lesions in the nail apparatus are often challenging. Both subungual melanomas (SUM) and blue naevus of the nail are very rare. Occasionally, melanomas may mimic blue naevus histologically. Benign and malignant blue melanocytic lesions are commonly associated with G protein mutations, a distinct abnormality not associated with conventional subungual melanomas. We describe the clinical, histological and immunohistochemical features of nine cases of SUM with blue naevus-like morphological features. Mutations in exon 4 and 5 of GNAQ and GNA11 were investigated in two cases, which showed no mutations. RNA-seq of one case revealed unknown mutations along with mutations in ATM, METK and ARID1A. Our study delineates a variant of SUM that mimics blue naevus. Awareness of this pitfall is important when evaluating heavily pigmented lesions around the nail in order to avoid misdiagnosis. Appropriate sampling of subungual lesions and clinicopathological correlation are paramount to reach the correct diagnosis.
Assuntos
Melanoma , Doenças da Unha , Nevo Azul , Neoplasias Cutâneas , Diagnóstico Diferencial , Humanos , Melanoma/diagnóstico , Melanoma/genética , Melanoma/patologia , Doenças da Unha/diagnóstico , Doenças da Unha/patologia , Nevo Azul/diagnóstico , Nevo Azul/genética , Estudos Retrospectivos , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/patologiaRESUMO
Having reviewed the diverse clinical subtypes of lichenoid disease and the postulated molecular basis thereof in the first article in this 2-part continuing medical education series, we discuss herein the existing and emerging treatment strategies in the most common clinical forms of lichenoid inflammation and provide an overview of their pharmacodynamics and evidence base. The scope of this review is not to exhaustively discuss treatment modalities for all lichenoid variants discussed in the previous article of this series. Instead, the focus will be on frequently encountered subtypes of lichen planus and on linking mechanisms of disease with mechanisms of drug action. Future directions and potential avenues for translational research will also be discussed.
Assuntos
Corticosteroides/administração & dosagem , Imunossupressores/administração & dosagem , Líquen Plano/diagnóstico , Líquen Plano/terapia , Administração Tópica , Inibidores de Calcineurina/administração & dosagem , Terapia Combinada , Feminino , Humanos , Líquen Plano Bucal/diagnóstico , Líquen Plano Bucal/terapia , Erupções Liquenoides/diagnóstico , Erupções Liquenoides/terapia , Masculino , Fototerapia/métodos , Prognóstico , Medição de Risco , Índice de Gravidade de Doença , Resultado do TratamentoRESUMO
Deriving from the Greek word λειχήν for "tree moss" and the Latin word planus for "planar," lichen planus is a relatively uncommon and heterogeneous cutaneous disorder that typically develops in middle-aged adults. Despite the significant clinical burden associated with the disorder, little well-conducted molecular research has been undertaken, possibly because of heterogeneity impeding consistent and confident phenotyping. The multiple variants of lichenoid disease bear overlapping clinical and pathologic features despite manifesting as distinct clinical disorders. The first article in this 2-part continuing medical education series provides a comprehensive overview of the clinical and pathologic characteristics of cutaneous lichenoid dermatoses and links these manifestations to recent advances in our understanding of the underlying pathobiology of such diseases.
Assuntos
Líquen Plano Bucal/terapia , Líquen Plano/patologia , Erupções Liquenoides/patologia , Dermatopatias/patologia , Adulto , Biópsia por Agulha , Doença Crônica , Progressão da Doença , Feminino , Humanos , Imuno-Histoquímica , Líquen Plano/diagnóstico , Líquen Plano/terapia , Líquen Plano Bucal/patologia , Líquen Escleroso e Atrófico , Erupções Liquenoides/diagnóstico , Masculino , Pessoa de Meia-Idade , Prognóstico , Fatores de Risco , Índice de Gravidade de Doença , Dermatopatias/diagnósticoAssuntos
Alopecia/genética , Alopecia/patologia , MicroRNA Circulante/genética , Regulação da Expressão Gênica , Idoso , Biópsia por Agulha , Estudos de Casos e Controles , Feminino , Fibrose , Testa , Humanos , Imuno-Histoquímica , MicroRNAs/genética , Pessoa de Meia-Idade , Pós-Menopausa/fisiologia , PrognósticoRESUMO
OBJECTIVE: To estimate the prevalence and pattern of iron deficiency (ID) in heart failure (HF) patients with or without anemia. METHODS: This is a single-center observational study, conducted at a tertiary care hospital of south Rajasthan. Patients admitted to hospital with clinical diagnosis of HF based on validated clinical criteria were included in the study. ID was diagnosed based on complete Iron profile, including serum iron, serum ferritin, total iron binding capacity, and transferrin saturation (TSAT). Anemia was defined as hemoglobin (Hb) <13g/dl for males and <12g/dl for females, based on World Health Organization definition. Absolute ID was taken as serum ferritin<100µg/L and functional ID was defined as normal serum ferritin (100-300µg/L) with low TSAT (<20%). RESULTS: A total of 150 patients of HF (68% males and 32% females) were studied. Most of the patients were of high-functional NYHA class (mean NYHA 2.89±0.95). ID was present in 76% patients with 48.7% patients having absolute and 27.3% patients having functional ID. Females were having significantly higher prevalence of ID than males (91.6% vs 68.6%; p=0.002). Nearly one-fourth of the patients were having ID but without anemia, signifying importance of workup of ID other than Hb. CONCLUSION: Our study highlights the yet underestimated and neglected burden of ID in HF patients in India. This study suggests further large-scale studies to better characterize this easily treatable condition and considering routine testing in future Indian guidelines.
Assuntos
Anemia Ferropriva/epidemiologia , Ferritinas/sangue , Insuficiência Cardíaca/complicações , Idoso , Anemia Ferropriva/sangue , Anemia Ferropriva/etiologia , Feminino , Insuficiência Cardíaca/sangue , Insuficiência Cardíaca/epidemiologia , Humanos , Índia/epidemiologia , Masculino , Pessoa de Meia-Idade , Prevalência , Estudos Retrospectivos , Fatores de Risco , Fatores SexuaisAssuntos
Aorta Torácica/anormalidades , Aorta/anormalidades , Aortografia/métodos , Ecocardiografia Doppler em Cores , Complexo de Eisenmenger/etiologia , Artéria Pulmonar/anormalidades , Tomografia Computadorizada por Raios X , Adulto , Aorta/diagnóstico por imagem , Aorta Torácica/diagnóstico por imagem , Cianose/etiologia , Permeabilidade do Canal Arterial/complicações , Permeabilidade do Canal Arterial/diagnóstico por imagem , Complexo de Eisenmenger/diagnóstico por imagem , Feminino , Humanos , Imageamento Tridimensional , Imagem Multimodal , Osteoartropatia Hipertrófica Primária/etiologia , Artéria Pulmonar/diagnóstico por imagemRESUMO
AIMS AND OBJECTIVES: Transradial interventions are gaining popularity in recent years. However the radial artery being small, there is a limitation in using interventional devices through this route. We have measured radial and ulnar arteries size in adult patients at our tertiary care cardiology center in southern Rajasthan. METHOD: Adult patients >30 years, who came for Echocardiography at a tertiary care center were included. Radial and ulnar arteries inner diameters were measured 2-3 cm above the Styloid process in both forearms with the Ultrasonography. Patient information about weight, height, diabetes and hypertension were collected. Body mass index and Body surface area were calculated. RESULTS: We studied 204 patients, which includes 60.8% males. Mean diameter was 2.325 ± 0.4 mm mm for radial arteries and 2.358 ± 0.39 mm for ulnar arteries (p = 0.24). Hypertensive and male patients had larger mean radial artery diameter than non hypertensive (2.383 mm v/s 2.272 mm, p = 0.006) and female patients (2.37 mm v/s 2.26 mm, p = 0.008) respectively. Diabetic patients (2.305 mm) had nonsignificantly smaller radial arteries diameters than nondiabetics (2.329 mm, p = 0.6). We calculated correlations between radial arteries diameters and Body surface area, Body mass index, height and weight of patients, none of these correlations were statistically significant (r = 0.30, r = 0.28, r = 0.07, r = 0.031 respectively). CONCLUSION: Mean radial artery diameter (2.325 ± 0.4 mm) in the study was slightly smaller than ulnar artery (2.358 ± 0.39 mm). Males and hypertensives had a larger mean radial artery diameter than females and non hypertensives. Radial artery inner diameter measurement by Ultrasonography may be more helpful than Allen's test for ideal selection of cases.
Assuntos
Intervenção Coronária Percutânea , Artéria Radial/diagnóstico por imagem , Artéria Ulnar/diagnóstico por imagem , Antropometria , Estudos Transversais , Ecocardiografia , Feminino , Humanos , Índia , Masculino , Pessoa de Meia-IdadeRESUMO
Cardiac rhabdomyomas are described as sporadic as well as associated with tuberous sclerosis. Association with LVOT obstruction with anorectal malformation or imperforate anus has not been reported so far in published literature. In this case report we describe one such case.
Assuntos
Anus Imperfurado/complicações , Neoplasias Cardíacas/complicações , Rabdomioma/complicações , Obstrução do Fluxo Ventricular Externo/etiologia , Malformações Anorretais , Anus Imperfurado/diagnóstico por imagem , Anus Imperfurado/cirurgia , Ecocardiografia Doppler , Neoplasias Cardíacas/diagnóstico por imagem , Neoplasias Cardíacas/terapia , Humanos , Recém-Nascido , Masculino , Radiografia , Rabdomioma/diagnóstico por imagem , Rabdomioma/terapia , Obstrução do Fluxo Ventricular Externo/diagnóstico por imagemRESUMO
The electronic records of 398 patients with chronic spontaneous urticaria (CSU) who had had a serum basophil histamine release assay (BHRA) performed as a marker of functional autoantibodies were audited. The BHRA was positive in 105 patients (26.4%). Fifty eight were treated with ciclosporin because they were H1 anti-histamine unresponsive. CSU patients with a positive BHRA were more likely to respond clinically (P<0.001) and to have raised thyroid autoantibodies (P<0.02) than those with a negative BHRA. The BHRA offers a useful predictive biomarker for a good response of H1 antihistamine-unresponsive CSU patients to ciclosporin.