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3.
Ren Fail ; 42(1): 483-488, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32438839

RESUMO

The coronavirus disease-19 (COVID-19) has spread over many countries and regions since the end of 2019, becoming the most severe public health event at present. Most of the critical cases developed multiple organ dysfunction, including acute kidney injury (AKI). Cytokine storm syndrome (CSS) may complicate the process of severe COVID-19 patients. This manuscript reviews the different aspects of blood purification in critically ill patients with AKI and increased inflammatory factors, and examines its potential role in severe COVID-19 treatment. Continuous renal replacement therapy (CRRT) has been practiced in many sepsis patients with AKI. Still, the timing and dosing need further robust evidence. In addition to the traditional CRRT, the high-throughput membrane with adsorption function and cytokine adsorption column are two representatives of recently emerging novel membrane technologies. Their potential in removing inflammatory factors and other toxins prospects for the treatment of severe COVID-19.


Assuntos
Betacoronavirus , Calcinose/terapia , Infecções por Coronavirus/terapia , Citocinas , Doenças das Valvas Cardíacas/terapia , Hipotricose/terapia , Pneumonia Viral/terapia , Terapia de Substituição Renal , Dermatopatias Genéticas/terapia , Calcinose/etiologia , Infecções por Coronavirus/complicações , Estado Terminal , Doenças das Valvas Cardíacas/etiologia , Humanos , Hipotricose/etiologia , Pandemias , Pneumonia Viral/complicações , Dermatopatias Genéticas/etiologia
4.
An Bras Dermatol ; 95(3): 351-354, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32265056

RESUMO

Secondary osteoma cutis is a phenomenon that may occur in several conditions. When it occurs in a melanocytic nevus it is named osteonevus of Nanta, an event considered uncommon and characterized by the presence of bone formation adjacent or interposed with melanocytic cells. There are reports of its occurrence in various melanocytic lesions, being more frequently associated with intradermal nevus. We report a case of osteonevus of Nanta in combined nevus, possibly the first description of this association.


Assuntos
Doenças Ósseas Metabólicas/patologia , Nevo Intradérmico/patologia , Nevo Pigmentado/patologia , Ossificação Heterotópica/patologia , Dermatoses do Couro Cabeludo/patologia , Dermatopatias Genéticas/patologia , Neoplasias Cutâneas/patologia , Adulto , Doenças Ósseas Metabólicas/cirurgia , Feminino , Humanos , Imuno-Histoquímica , Melanócitos/patologia , Nevo Intradérmico/cirurgia , Nevo Pigmentado/cirurgia , Ossificação Heterotópica/cirurgia , Dermatoses do Couro Cabeludo/cirurgia , Dermatopatias Genéticas/cirurgia , Neoplasias Cutâneas/cirurgia
5.
Invest Ophthalmol Vis Sci ; 61(3): 16, 2020 03 09.
Artigo em Inglês | MEDLINE | ID: mdl-32176264

RESUMO

Purpose: In this experimental study, we quantify retinal microvasculature morphological features with depth, region, and age in immature and mature ovine eyes. These data identify morphological vulnerabilities in young eyes to inform the mechanics of retinal hemorrhage in children. Methods: Retinal specimens from the equator and posterior pole of preterm (n = 4) and adult (n = 9) sheep were imaged using confocal microscopy. Vessel segment length, diameter, angular asymmetry, tortuosity, and branch points were quantified using a custom image segmentation code. Significant differences were identified through two-way ANOVAs and correlation analyses. Results: Vessel segment lengths were significantly shorter in immature eyes compared to adults (P < 0.003) and were significantly shorter at increasing depths in the immature retina (P < 0.04). Tortuosity significantly increased with depth, regardless of age (P < 0.05). These data suggest a potential vulnerability of vasculature in the deeper retinal layers, particularly in immature eyes. Preterm retina had significantly more branch points than adult retina in both the posterior pole and equator, and the number increased significantly with depth (P < 0.001). Conclusions: The increased branch points and decreased segment lengths in immature microvasculature suggest that infants will experience greater stress and strain during traumatic loading compared to adults. The increased morphological vulnerability of the immature microvasculature in the deeper layers of the retina suggest that intraretinal hemorrhages have a greater likelihood of occurring from trauma compared to preretinal hemorrhages. The morphological features captured in this study lay the foundation to explore the mechanics of retinal hemorrhage in infants and identify vulnerabilities that explain patterns of retinal hemorrhage in infants.


Assuntos
Hemorragia Retiniana/patologia , Vasos Retinianos/anatomia & histologia , Envelhecimento/patologia , Envelhecimento/fisiologia , Animais , Animais Recém-Nascidos , Artérias/anormalidades , Artérias/patologia , Artérias/fisiopatologia , Fenômenos Biomecânicos , Feminino , Humanos , Instabilidade Articular/patologia , Instabilidade Articular/fisiopatologia , Microscopia Confocal , Microvasos/anatomia & histologia , Microvasos/fisiologia , Variações Dependentes do Observador , Hemorragia Retiniana/etiologia , Vasos Retinianos/fisiologia , Ovinos , Dermatopatias Genéticas/patologia , Dermatopatias Genéticas/fisiopatologia , Malformações Vasculares/patologia , Malformações Vasculares/fisiopatologia
6.
Curr Pharm Biotechnol ; 21(2): 117-130, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-31203799

RESUMO

OBJECTIVES: The Arterial Tortuosity Syndrome (ATS) is an autosomal recessive connective tissue disorder, mainly characterized by tortuosity and stenosis of the arteries with a propensity towards aneurysm formation and dissection. It is caused by mutations in the SLC2A10 gene that encodes the facilitative glucose transporter GLUT10. The molecules transported by and interacting with GLUT10 have still not been unambiguously identified. Hence, the study attempts to identify both the substrate binding site of GLUT10 and the molecules interacting with this site. METHODS: As High-resolution X-ray crystallographic structure of GLUT10 was not available, 3D homology model of GLUT10 in open conformation was constructed. Further, molecular docking and bioinformatics investigation were employed. RESULTS AND DISCUSSION: Blind docking of nine reported potential in vitro substrates with this 3D homology model revealed that substrate binding site is possibly made with PRO531, GLU507, GLU437, TRP432, ALA506, LEU519, LEU505, LEU433, GLN525, GLN510, LYS372, LYS373, SER520, SER124, SER533, SER504, SER436 amino acid residues. Virtual screening of all metabolites from the Human Serum Metabolome Database and muscle metabolites from Human Metabolite Database (HMDB) against the GLUT10 revealed possible substrates and interacting molecules for GLUT10, which were found to be involved directly or partially in ATS progression or different arterial disorders. Reported mutation screening revealed that a highly emergent point mutation (c. 1309G>A, p. Glu437Lys) is located in the predicted substrate binding site region. CONCLUSION: Virtual screening expands the possibility to explore more compounds that can interact with GLUT10 and may aid in understanding the mechanisms leading to ATS.


Assuntos
Proteínas Facilitadoras de Transporte de Glucose/química , Músculos/enzimologia , Artérias/anormalidades , Sítios de Ligação , Transporte Biológico , Cristalografia por Raios X , Bases de Dados Factuais , Proteínas Facilitadoras de Transporte de Glucose/genética , Proteínas Facilitadoras de Transporte de Glucose/metabolismo , Humanos , Instabilidade Articular/genética , Metabolômica , Simulação de Acoplamento Molecular , Mutação , Dermatopatias Genéticas/genética , Especificidade por Substrato , Malformações Vasculares/genética
7.
Curr Opin Pediatr ; 31(6): 694-701, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31693575

RESUMO

PURPOSE OF REVIEW: To review the literature and provide a summary of management of syndromic and nonsyndromic aortopathies. RECENT FINDINGS: The number of newly identified genetic causes for aortopathies have continued to increase over the past 10 years. The number of reported individuals with most hereditary aneurysm genes is small but increasing with more publications focusing describing the natural history caused by each gene. SUMMARY: Aortopathy can present as an isolated finding or present as part of a larger genetic syndrome. Advances in genetic testing technology has shed light on the increasing importance of molecular diagnostics in the evaluation and management of patients with hereditary aortic disease. Molecular diagnostics and family phenotyping can aide in the diagnosis and management of pediatric patients with aortic disease.


Assuntos
Aneurisma da Aorta Torácica/genética , Testes Genéticos/métodos , Aneurisma da Aorta Torácica/diagnóstico , Aneurisma da Aorta Torácica/terapia , Artérias/anormalidades , Criança , Predisposição Genética para Doença , Humanos , Instabilidade Articular/genética , Síndrome de Marfan/genética , Dermatopatias Genéticas/genética , Síndrome , Malformações Vasculares/genética
8.
An Bras Dermatol ; 94(5): 608-611, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31777364

RESUMO

Dissecting cellulitis is an inflammatory, chronic, and recurrent disease of the hair follicles that mainly affects young Afro-descendent men. Trichoscopy is a method of great diagnostic value for disorders of the scalp. Clinical and trichoscopic findings of dissecting cellulitis are heterogeneous and may present features common to non-cicatricial and scarring alopecia. This article presents the trichoscopic findings of dissecting cellulitis that help in the diagnosis and consequent institution of the appropriate therapy and better prognosis of the disease.


Assuntos
Celulite (Flegmão)/diagnóstico por imagem , Celulite (Flegmão)/patologia , Dermoscopia/métodos , Folículo Piloso/diagnóstico por imagem , Folículo Piloso/patologia , Dermatoses do Couro Cabeludo/diagnóstico por imagem , Dermatoses do Couro Cabeludo/patologia , Dermatopatias Genéticas/diagnóstico por imagem , Dermatopatias Genéticas/patologia , Eritema/diagnóstico por imagem , Eritema/patologia , Cabelo/diagnóstico por imagem , Cabelo/patologia , Humanos
13.
J Eur Acad Dermatol Venereol ; 33 Suppl 6: 36-39, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31535756

RESUMO

The case of a 24-year-old male patient affected by follicular occlusion tetrad (acne conglobata, hidradenitis suppurativa, pilonidal cyst and dissecting cellulitis of the scalp) associated with clinical signs of pachyonychia congenita (PC)-2 (focal palmoplantar keratoderma, plantar pain, onycodystrophy and multiple cysts) is reported. The diagnosis was supported by genetic analysis that showed heterozygous mutation within the exon 1 of KRT17 gene. This case may reflect different expressions of a phenotypic spectrum induced by a common genetic alteration.


Assuntos
Acne Conglobata/diagnóstico , Celulite (Flegmão)/diagnóstico , Hidradenite Supurativa/diagnóstico , Queratina-17/genética , Paquioníquia Congênita/genética , Seio Pilonidal/diagnóstico , Dermatoses do Couro Cabeludo/diagnóstico , Dermatopatias Genéticas/diagnóstico , Hidradenite Supurativa/genética , Humanos , Masculino , Paquioníquia Congênita/diagnóstico , Síndrome , Adulto Jovem
14.
Medicine (Baltimore) ; 98(33): e16802, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31415390

RESUMO

Impact of arterial stiffness on aortic morphology has not been well evaluated. We sought to investigate the association of brachial-ankle pulse wave velocity (baPWV) with aortic calcification and tortuosity.A total of 181 patients (65.4 ±â€Š10.4 years, males 59.7%) who underwent computed tomographic angiography and baPWV measurement within 1 month of study entry were retrospectively reviewed. Aortic calcification was quantified by the calcium scoring software system. Aortic tortuosity was defined as the length of the midline in the aorta divided by the length of linear line from the aortic root to the distal end of the thoraco-abdominal aorta. In simple correlation analyses, baPWV was correlated with aortic calcification (r = 0.36, P < .001) and tortuosity (r = 0.16, P = .030). However, these significances disappeared after controlling for confounders in multivariate analyses. Factors showing an independent association with aortic calcification were age (ß = 0.37, P < .001), hypertension (ß = 0.19, P = .003), diabetes mellitus (ß = 0.12, P = .045), smoking (ß = 0.17, P = .016), and estimated glomerular filtration rate (ß = -0.25, P = .002). Factors showing an independent association with aortic tortuosity were age (ß = 0.34, P < .001), body mass index (ß = -0.19, P = .018), and diabetes mellitus (ß = -0.21, P = .003).In conclusion, baPWV reflecting arterial stiffness was not associated with aortic calcification and tortuosity. Traditional cardiovascular risk factors were more influential to aortic geometry. Further studies with a larger sample size are needed to confirm our results.


Assuntos
Aorta/patologia , Artérias/anormalidades , Instabilidade Articular/fisiopatologia , Dermatopatias Genéticas/fisiopatologia , Calcificação Vascular/fisiopatologia , Malformações Vasculares/fisiopatologia , Rigidez Vascular/fisiologia , Idoso , Índice Tornozelo-Braço , Aorta/fisiopatologia , Artérias/patologia , Artérias/fisiopatologia , Índice de Massa Corporal , Angiografia por Tomografia Computadorizada , Feminino , Humanos , Instabilidade Articular/patologia , Masculino , Pessoa de Meia-Idade , Análise de Onda de Pulso , Estudos Retrospectivos , Dermatopatias Genéticas/patologia , Calcificação Vascular/patologia , Malformações Vasculares/patologia
17.
Genes (Basel) ; 10(9)2019 08 21.
Artigo em Inglês | MEDLINE | ID: mdl-31438591

RESUMO

The term linkeropathies (LKs) refers to a group of rare heritable connective tissue disorders, characterized by a variable degree of short stature, skeletal dysplasia, joint laxity, cutaneous anomalies, dysmorphism, heart malformation, and developmental delay. The LK genes encode for enzymes that add glycosaminoglycan chains onto proteoglycans via a common tetrasaccharide linker region. Biallelic variants in XYLT1 and XYLT2, encoding xylosyltransferases, are associated with Desbuquois dysplasia type 2 and spondylo-ocular syndrome, respectively. Defects in B4GALT7 and B3GALT6, encoding galactosyltransferases, lead to spondylodysplastic Ehlers-Danlos syndrome (spEDS). Mutations in B3GAT3, encoding a glucuronyltransferase, were described in 25 patients from 12 families with variable phenotypes resembling Larsen, Antley-Bixler, Shprintzen-Goldberg, and Geroderma osteodysplastica syndromes. Herein, we report on a 13-year-old girl with a clinical presentation suggestive of spEDS, according to the 2017 EDS nosology, in whom compound heterozygosity for two B3GAT3 likely pathogenic variants was identified. We review the spectrum of B3GAT3-related disorders and provide a comparison of all LK patients reported up to now, highlighting that LKs are a phenotypic continuum bridging EDS and skeletal disorders, hence offering future nosologic perspectives.


Assuntos
Fenótipo de Síndrome de Antley-Bixler/genética , Aracnodactilia/genética , Doenças Ósseas/congênito , Craniossinostoses/genética , Nanismo/genética , Glucuronosiltransferase/genética , Síndrome de Marfan/genética , Mutação , Osteocondrodisplasias/genética , Fenótipo , Dermatopatias Genéticas/genética , Adolescente , Fenótipo de Síndrome de Antley-Bixler/patologia , Aracnodactilia/patologia , Doenças Ósseas/genética , Doenças Ósseas/patologia , Craniossinostoses/patologia , Nanismo/patologia , Feminino , Humanos , Síndrome de Marfan/patologia , Osteocondrodisplasias/patologia , Dermatopatias Genéticas/patologia
18.
Cell Tissue Res ; 378(2): 267-277, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31392520

RESUMO

Peeling skin syndrome is a heterogeneous group of rare disorders. Peeling skin, leukonychia, acral punctate keratoses, cheilitis and knuckle pads (PLACK syndrome, OMIM616295) is a newly described form of PSS with an autosomal recessive mode of inheritance. We report a 5.5-year-old boy with features of PLACK syndrome. Additionally, he had mild cerebral atrophy and mild muscle involvements. Whole exome sequencing was performed in genomic DNA of this individual and subsequent analysis revealed a homozygous c.544G > T (p.Glu182*) nonsense mutation in the CAST gene encoding calpastatin. Sanger sequencing confirmed this variant and demonstrated that his affected aunt was also homozygous. Real-time qRT-PCR and immunoblot analysis showed reduced calpastatin expression in skin fibroblasts derived from both affected individuals compared to heterozygous family members. In vitro calpastatin activity assays also showed decreased activity in affected individuals. This study further supports a key role for calpastatin in the tight regulation of proteolytic pathways within the skin.


Assuntos
Proteínas de Ligação ao Cálcio/genética , Códon sem Sentido/genética , Dermatite Esfoliativa/genética , Dermatopatias Genéticas/genética , Pele , Adulto , Pré-Escolar , Feminino , Homozigoto , Humanos , Masculino , Pele/metabolismo , Pele/patologia
19.
J Dermatol ; 46(11): 1014-1018, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31392773

RESUMO

Hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP) is a recently identified autosomal dominant genetic syndrome with mutations in FAM111B. Herein, we report a 14-month-old girl who presented with progressive poikiloderma on the face. Her 24-year-old mother had an identical facial poikiloderma, hyperpigmentation, mottling and Blaschko line hypopigmentation on the trunk and limbs, as well as severe tendon contractures. Next-generation sequencing based on a targeted gene capture panel revealed a missense mutation in the FAM111B gene p.Phe416Ser (c.1247T>C). Her mother had the same mutation as the proband. Moreover, this mutation was absent in the unaffected father and maternal grandparents. Based on the clinical manifestations and genetic analysis, the proband and her mother were diagnosed with POIKTMP. Protein modeling indicated that the mutation p.Phe416Ser dramatically changed the protein structure, especially its structural stability, and affected the protein function. This is the first report of POIKTMP in a Chinese family due to a novel FAM111B mutation. Furthermore, we have reviewed the genotype-phenotype correlation, differential diagnoses and management of POIKTMP.


Assuntos
Proteínas de Ciclo Celular/genética , Esclerose/genética , Anormalidades da Pele/genética , Dermatopatias Genéticas/genética , China , Contratura/genética , Feminino , Humanos , Lactente , Doenças Musculares/genética , Mutação de Sentido Incorreto , Fibrose Pulmonar/genética , Tendinopatia/genética , Adulto Jovem
20.
Dermatol Clin ; 37(4): 607-613, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31466598

RESUMO

Cutaneous findings that appear in childhood may be the first sign of a hereditary tumor syndrome. Early detection of genodermatoses allows the patient and at-risk family members to be screened for associated malignancies. This article provides a brief description of the pathogenesis and clinical manifestations of various inherited disorders with skin involvement, along with treatment updates. Advances in molecular-based therapy have spurred development of novel treatment methods for various genodermatoses such as xeroderma pigmentosum (XP) and Gorlin-Goltz syndrome. Further studies are needed to better assess the efficacy of many of these new treatment options.


Assuntos
Síndromes Neoplásicas Hereditárias/diagnóstico , Dermatopatias Genéticas/diagnóstico , Reparo do DNA/genética , Humanos , Síndromes Neoplásicas Hereditárias/genética , Síndromes Neoplásicas Hereditárias/terapia , Doenças da Imunodeficiência Primária/genética , Transdução de Sinais/genética , Dermatopatias Genéticas/genética , Dermatopatias Genéticas/terapia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/terapia
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