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1.
Int Braz J Urol ; 46(1): 83-89, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-31851463

RESUMO

PURPOSE: Obliterative urethral stenosis is a type of urethral lesion that compromises the whole corpus spongiosum's circumference. We present our experience in resolving complex long segment urethral obliteration in a single procedure using a combination of dorsal onlay oral mucosa graft (OMG) and ventral fasciocutaneous penile skin flap. MATERIALS AND METHODS: A prospectively maintained database was reviewed, which included data of men presenting long, obliterative strictures. Patients were excluded if they were lost to follow-up before one year. Failure was defined as need for further urethral instrumentation. The surgical technique used consisted on the fixation of OMG to the tunica albuginea of the corpus cavernosum, thus creating a new urethral plate. Penile or foreskin flaps were employed to complete the ventral aspect. Postoperative follow-up was done with a voiding cystourethrography at week 3. RESULTS: A total of 21 patients were included with a median age of 49 years. Mean follow-up was 25 months. Failure was found for 3 patients (2 of them needing dilations and only one required a new urethral reconstruction). CONCLUSION: Single stage combination of dorsal OMG with ventral fasciocutaneous penile flap showed good results for selected patients affected with obliterative urethral stenosis.


Assuntos
Mucosa Bucal/transplante , Pênis/cirurgia , Procedimentos de Cirurgia Plástica/métodos , Retalhos Cirúrgicos/transplante , Estreitamento Uretral/cirurgia , Seguimentos , Humanos , Estimativa de Kaplan-Meier , Masculino , Pessoa de Meia-Idade , Duração da Cirurgia , Estudos Prospectivos , Reprodutibilidade dos Testes , Resultado do Tratamento
2.
Int Braz J Urol ; 45(2): 253-261, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30325608

RESUMO

PURPOSE: To evaluate safety, efficacy and functional outcomes after open vesicourethral re - anastomosis using different approaches based on previous urinary continence. MATERIALS AND METHODS: Retrospective study of patients treated from 2002 to 2017 due to vesicourethral anastomosis stricture (VUAS) post radical prostatectomy (RP) who failed endoscopic treatment with at least 3 months of follow-up. Continent and incontinent patients post RP were assigned to abdominal (AA) or perineal approach (PA), respectively. Demographic and perioperative variables were registered. Follow-up was completed with clinical interview, uroflowmetry and cystoscopy every 4 months. Success was defined as asymptomatic patients with urethral lumen that allows a 14 French flexible cystoscope. RESULTS: Twenty patients underwent open re-anastomosis for VUAS after RP between 2002 and 2017. Mean age was 63.7 years (standard deviation 1.4) and median follow-up was 10 months (range 3 - 112). The approach distribution was PA 10 patients (50%) and AA 10 patients (50%). The mean surgery time and median hospital time were 246.2 ± 35.8 minutes and 4 days (range 2 - 10), respectively with no differences between approaches. No significant complication rate was found. Three patients in the AA group had gait disorder with favorable evolution and no sequels. Estimated 2 years primary success rate was 80%. After primary procedures 89.9% remained stenosis - free. All PA patients remained incontinent, and 90% AA remained continent during follow-up. CONCLUSION: Open vesicourethral re - anastomosis treatment is a reasonable treatment option for recurrent VUAS after RP. All patients with perineal approach remained incontinent while incontinence rate in abdominal approach was rather low.


Assuntos
Prostatectomia/métodos , Uretra/cirurgia , Estreitamento Uretral/etiologia , Bexiga Urinária/cirurgia , Anastomose Cirúrgica , Disfunção Erétil/etiologia , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias/etiologia , Prostatectomia/efeitos adversos , Estudos Retrospectivos , Resultado do Tratamento , Estreitamento Uretral/cirurgia , Obstrução do Colo da Bexiga Urinária/cirurgia , Incontinência Urinária/etiologia
3.
Rev Chil Pediatr ; 90(1): 69-77, 2019.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-31095221

RESUMO

INTRODUCTION: Spirometry is the most commonly used test to evaluate lung function. Foreign refe rence standards are currently available for preschool children. OBJECTIVES: 1. To measure spirometric variables in healthy Chilean preschool children, 2. To compare these results with predictive ones according to GLI (Global Lung Initiative), Eigen (USA) and França (Brazil), and 3. If there is a sig nificant difference with these, to develop reference equations. SUBJECTS AND METHOD: Questionnaires were distributed to parents in several schools and kindergartens in Santiago. Children with a history of prematurity, asthmatic symptoms, chronic lung disease (including asthma), and chronic non respiratory disease were excluded. Spirometry was performed according to ATS/ERS 2007 guideli nes, with MedGraphics equipment, USA. Family and environmental background, weight and height were recorded, as well as values obtained in forced vital capacity (FVC), forced expiratory volume in 0.5, 0.75 and 1 second (FEV0.5, FEV0.75, and FEV1, respectively). RESULTS: 276 spirometries were performed, 202 met acceptability criteria, 112 girls, average age 5.01 ± 0.57 years, height 108.7 ± 5.6 cm. When comparing by gender, there was only a significant difference in FVC, which was higher in boys. The average values obtained in the total group were: FVC 1.22 ± 0.22 liters, FEV1 1.16 ± 0.18 liters, FEV0.75 1.07 ± 0.17 liters. These parameters were higher in percentage than the predictive ones according to GLI, Eigen, and França, except FVC with Eigen, therefore, predictive equations were de veloped. CONCLUSIONS: Spirometric values of preschoolers living in Santiago were higher than foreign reference values. We proposed these reference standards to be used in our country.


Assuntos
Espirometria/normas , Pré-Escolar , Chile , Feminino , Saúde Global , Voluntários Saudáveis , Humanos , Masculino , Padrões de Referência , Valores de Referência
4.
Dev Biol ; 429(1): 343-355, 2017 09 01.
Artigo em Inglês | MEDLINE | ID: mdl-28551284

RESUMO

Nuclear hormone receptors play a major role in the development of many tissues. This study uncovers a novel role for testicular receptor 2 (Tr2, Nr2c1) in defining the early phase of retinal development and regulating normal retinal cell patterning and topography. The mammalian retina undergoes an overlapping yet biphasic period of development to generate all seven retinal cell types. We discovered that Nr2c1 expression coincides with development of the early retinal cells. Loss of Nr2c1 causes a severe vision deficit and impacts early, but not late retina cell types. Retinal cone cell topography is disrupted with an increase in displaced amacrine cells. Additionally, genetic background significantly impacts phenotypic outcome of cone photoreceptor cells but not amacrine cells. Chromatin-IP experiments reveal NR2C1 regulates early cell transcription factors that regulate retinal progenitor cells during development, including amacrine (Satb2) and cone photoreceptor regulators thyroid and retinoic acid receptors. This study supports a role for Nr2c1 in defining the biphasic period of retinal development and specifically influencing the early phase of retinal cell fate.


Assuntos
Padronização Corporal/genética , Membro 1 do Grupo C da Subfamília 2 de Receptores Nucleares/metabolismo , Retina/embriologia , Retina/metabolismo , Células Amácrinas/citologia , Células Amácrinas/metabolismo , Animais , Proliferação de Células , Forma Celular , Regulação da Expressão Gênica no Desenvolvimento , Transdução de Sinal Luminoso/genética , Camundongos Endogâmicos C57BL , Camundongos Knockout , Mutação/genética , Membro 1 do Grupo C da Subfamília 2 de Receptores Nucleares/genética , Ligação Proteica/genética , Células Fotorreceptoras Retinianas Cones/citologia , Células Fotorreceptoras Retinianas Cones/metabolismo , Células Ganglionares da Retina/citologia , Células Ganglionares da Retina/metabolismo , Sinapses/metabolismo
5.
Am J Pathol ; 186(1): 199-209, 2016 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-26608452

RESUMO

Mucolipidosis IV is a debilitating developmental lysosomal storage disorder characterized by severe neuromotor retardation and progressive loss of vision, leading to blindness by the second decade of life. Mucolipidosis IV is caused by loss-of-function mutations in the MCOLN1 gene, which encodes the transient receptor potential channel protein mucolipin-1. Ophthalmic pathology in patients includes corneal haze and progressive retinal and optic nerve atrophy. Herein, we report ocular pathology in Mcoln1(-/-) mouse, a good phenotypic model of the disease. Early, but non-progressive, thinning of the photoreceptor layer, reduced levels of rhodopsin, disrupted rod outer segments, and widespread accumulation of the typical storage inclusion bodies were the major histological findings in the Mcoln1(-/-) retina. Electroretinograms showed significantly decreased functional response (scotopic a- and b-wave amplitudes) in the Mcoln1(-/-) mice. At the ultrastructural level, we observed formation of axonal spheroids and decreased density of axons in the optic nerve of the aged (6-month-old) Mcoln1(-/-) mice, which indicates progressive axonal degeneration. Our data suggest that mucolipin-1 plays a role in postnatal development of photoreceptors and provides a set of outcome measures that can be used for ocular therapy development for mucolipidosis IV.


Assuntos
Mucolipidoses/patologia , Nervo Óptico/patologia , Distrofias Retinianas/patologia , Animais , Western Blotting , Modelos Animais de Doenças , Eletrorretinografia , Imunofluorescência , Marcação In Situ das Extremidades Cortadas , Camundongos , Camundongos Endogâmicos C57BL , Camundongos Knockout , Mucolipidoses/complicações , Tomografia de Coerência Óptica , Canais de Potencial de Receptor Transitório/deficiência , Canais de Potencial de Receptor Transitório/genética
6.
Curr Diab Rep ; 17(10): 93, 2017 08 24.
Artigo em Inglês | MEDLINE | ID: mdl-28836097

RESUMO

PURPOSE OF REVIEW: Diabetic retinopathy (DR) is one of the most common complications associated with chronic hyperglycemia seen in patients with diabetes mellitus. While many facets of DR are still not fully understood, animal studies have contributed significantly to understanding the etiology and progression of human DR. This review provides a comprehensive discussion of the induced and genetic DR models in different species and the advantages and disadvantages of each model. RECENT FINDINGS: Rodents are the most commonly used models, though dogs develop the most similar morphological retinal lesions as those seen in humans, and pigs and zebrafish have similar vasculature and retinal structures to humans. Nonhuman primates can also develop diabetes mellitus spontaneously or have focal lesions induced to simulate retinal neovascular disease observed in individuals with DR. DR results in vascular changes and dysfunction of the neural, glial, and pancreatic ß cells. Currently, no model completely recapitulates the full pathophysiology of neuronal and vascular changes that occur at each stage of diabetic retinopathy; however, each model recapitulates many of the disease phenotypes.


Assuntos
Retinopatia Diabética/patologia , Modelos Animais de Doenças , Animais , Citocinas/metabolismo , Diabetes Mellitus Experimental/patologia , Retinopatia Diabética/genética , Retinopatia Diabética/fisiopatologia , Humanos , Hipóxia/patologia , Modelos Genéticos
8.
J Hazard Mater ; 445: 130625, 2023 03 05.
Artigo em Inglês | MEDLINE | ID: mdl-37056024

RESUMO

In this work, we used palladium-doped polystyrene NPLs (PS-NPLs with a primary size of 286 ± 4 nm) with an irregular surface morphology which allowed for particle tracking and evaluation of their toxicity on two primary producers (cyanobacterium, Anabaena sp. PCC7120 and green algae, Chlamydomonas reinhardtii) and one primary consumer (crustacean, Daphnia magna). the concentration range for Anabaena and C. reinhardtii was from 0.01 to 1000 mg/L and for D. magna, the range was from 7.5 to 120 mg/L.EC50 s ranged from 49 mg NPLs/L for D. magna (48hEC50 s) to 248 mg NPLs/L (72hEC50 s for C. reinhardtii). PS-NPLs induced dose-dependent reactive oxygen species overproduction, membrane damage and metabolic alterations. To shed light on the environmental fate of PS-NPLs, the short-term distribution of PS-NPLs under static (using lake water and sediments) and stirring (using river water and sediments) conditions was studied at laboratory scale. The results showed that most NPLs remained in the water column over the course of 48 h. The maximum percentage of settled particles (∼ 30 %) was found under stirring conditions in comparison with the ∼ 10 % observed under static ones. Natural organic matter increased the stability of the NPLs under colloidal state while organisms favored their settlement. This study expands the current knowledge of the biological effects and fate of NPLs in freshwater environments.


Assuntos
Organismos Aquáticos , Poluentes Químicos da Água , Animais , Microplásticos/toxicidade , Poliestirenos/metabolismo , Água Doce , Daphnia , Água/farmacologia , Poluentes Químicos da Água/metabolismo
9.
Complex Psychiatry ; 7(3-4): 60-70, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36017067

RESUMO

No large-scale genome-wide association studies (GWASs) of psychosis have been conducted in Mexico or Latin America to date. Schizophrenia and bipolar disorder in particular have been found to be highly heritable and genetically influenced. However, understanding of the biological basis of psychosis in Latin American populations is limited as previous genomic studies have almost exclusively relied on participants of Northern European ancestry. With the goal of expanding knowledge on the genomic basis of psychotic disorders within the Mexican population, the National Institute of Psychiatry Ramón de la Fuente Muñiz (INPRFM), the Harvard T.H. Chan School of Public Health, and the Broad Institute's Stanley Center for Psychiatric Research launched the Neuropsychiatric Genetics Research of Psychosis in Mexican Populations (NeuroMex) project to collect and analyze case-control psychosis samples from 5 states across Mexico. This article describes the planned sample collection and GWAS protocol for the NeuroMex study. The 4-year study will span from April 2018 to 2022 and aims to recruit 9,208 participants: 4,604 cases and 4,604 controls. Study sites across Mexico were selected to ensure collected samples capture the genomic diversity within the Mexican population. Blood samples and phenotypic data will be collected during the participant interview process and will contribute to the development of a local biobank in Mexico. DNA extraction will be done locally and genetic analysis will take place at the Broad Institute in Cambridge, MA. We will collect extensive phenotypic information using several clinical scales. All study materials including phenotypic instruments utilized are openly available in Spanish and English. The described study represents a long-term collaboration of a number of institutions from across Mexico and the Boston area, including clinical psychiatrists, clinical researchers, computational biologists, and managers at the 3 collaborating institutions. The development of relevant data management, quality assurance, and analysis plans are the primary considerations in this protocol article. Extensive management and analysis processes were developed for both the phenotypic and genetic data collected. Capacity building, partnerships, and training between and among the collaborating institutions are intrinsic components to this study and its long-term success.

10.
Surg Endosc ; 24(7): 1701-6, 2010 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-20044765

RESUMO

BACKGROUND: We wanted to evaluate the safety of outpatient endoscopic retrograde cholangiopancreatography (ERCP). The follow-up of an ERCP outpatient during a short observation period could be a feasible and safe approach. METHODS: To evaluate the safety of outpatient ERCP, we assessed the rate of post-ERCP complications found and missed during a 6-h observation period after therapeutic ERCP. RESULTS: We performed 236 ERCPs on an outpatient basis, with a failure rate of 3.7% but with an overall completion rate for the intended treatment of 90.7%. Seventy-eight percent of the ERCPs were primarily therapeutic. The age of the patients was 63.9 years and 61.9% were females. One hundred seventy-seven (74.5%) patients were discharged from the hospital after the observation period. Thirty-three (14.1%) patients were admitted without further delay due to unexpected ERCP findings or for early detection of complications. Twenty-seven (11.4%) patients had a prolonged hospital stay because of complications during the observation period. Just two patients previously discharged developed later complications: cholangitis and pancreatitis (0.84% of the ERCPs and 7.4% of the overall complications). There were 27 ERCP complications (12.1%). Of the overall complications, 29.6% were diagnosed very early after the procedure and 62.9% were diagnosed during the observation period. 8.9% out of the 12.1% of the ERCP complications were mild to moderate. There was no mortality. CONCLUSION: Twenty-five (92.6%) of ERCP complications occurred during the first 6 h, making the use of this short observation period safe for an early discharge. The evolution of the patients who developed delayed complications was unremarkable. Whenever outpatient ERCP is feasible, it should be done to help cut costs.


Assuntos
Assistência Ambulatorial , Colangiopancreatografia Retrógrada Endoscópica/métodos , Doenças do Sistema Digestório/diagnóstico , Doenças do Sistema Digestório/terapia , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos de Viabilidade , Feminino , Seguimentos , Hospitais Comunitários , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Espanha , Resultado do Tratamento , Adulto Jovem
11.
Int J Food Sci Nutr ; 60(8): 694-708, 2009 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-19919517

RESUMO

Bioactive compounds and their relationship with antioxidant activity were determined in three tomato cultivars (Ronaldo, Siena and Copo) during vine ripening. The lycopene, chlorophyll (total, a and b), total phenolic, flavonoid, vitamin C and folate contents, and the antioxidant activity, by the ferric reducing/antioxidant power assay and the beta-carotene lineolate system, were determined in the samples. Tomato ripening involved the breakdown of chlorophylls, accompanied by a continuous increase in the lycopene content. Total phenolics, flavonoids and vitamin C increased significantly during ripening, whereas the folate content fell markedly as tomatoes turned from green to red. The lycopene and flavonoid content was highest in the Copo cultivar, vitamin C and folate highest in Ronaldo, and total phenolics highest in Siena. The antioxidant activity, as measured with the ferric reducing/antioxidant power assay, increased significantly during ripening in all extracts, and showed a positive correlation with the total phenolic and flavonoid contents. However, when measured with the beta-carotene lineolate system, the antioxidant activity decreased significantly during ripening; perhaps due to the antioxidant activity of chlorophylls and the peroxidation activity of vitamin C.


Assuntos
Antioxidantes/análise , Frutas/química , Frutas/crescimento & desenvolvimento , Solanum lycopersicum/química , Tetra-Hidrofolatos/análise , Antioxidantes/química , Ácido Ascórbico/análise , Carotenoides/análise , Clorofila/análise , Flavonoides/análise , Licopeno , Solanum lycopersicum/crescimento & desenvolvimento , Solanum lycopersicum/metabolismo , Oxirredução , Fenóis/análise , Pigmentação , Extratos Vegetais/química , Especificidade da Espécie
12.
Biomicrofluidics ; 13(2): 024111, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31065310

RESUMO

Microfluidic devices provide a platform for analyzing both natural and synthetic multicellular systems. Currently, substantial capital investment and expertise are required for creating microfluidic devices using standard soft-lithography. These requirements present barriers to entry for many nontraditional users of microfluidics, including developmental biology laboratories. Therefore, fabrication methodologies that enable rapid device iteration and work "out-of-the-box" can accelerate the integration of microfluidics with developmental biology. Here, we have created and characterized low-cost hybrid polyethylene terephthalate laminate (PETL) microfluidic devices that are suitable for cell and micro-organ culture assays. These devices were validated with mammalian cell lines and the Drosophila wing imaginal disc as a model micro-organ. First, we developed and tested PETLs that are compatible with both long-term cultures and high-resolution imaging of cells and organs. Further, we achieved spatiotemporal control of chemical gradients across the wing discs with a multilayered microfluidic device. Finally, we created a multilayered device that enables controllable mechanical loading of micro-organs. This mechanical actuation assay was used to characterize the response of larval wing discs at different developmental stages. Interestingly, increased deformation of the older wing discs for the same mechanical loading suggests that the compliance of the organ is increased in preparation for subsequent morphogenesis. Together, these results demonstrate the applicability of hybrid PETL devices for biochemical and mechanobiology studies on micro-organs and provide new insights into the mechanics of organ development.

14.
J Exp Neurosci ; 9(Suppl 2): 93-121, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-27168725

RESUMO

The nuclear hormone receptor (NHR) superfamily is composed of a wide range of receptors involved in a myriad of important biological processes, including development, growth, metabolism, and maintenance. Regulation of such wide variety of functions requires a complex system of gene regulation that includes interaction with transcription factors, chromatin-modifying complex, and the proper recognition of ligands. NHRs are able to coordinate the expression of genes in numerous pathways simultaneously. This review focuses on the role of nuclear receptors in the central nervous system and, in particular, their role in regulating the proper development and function of the brain and the eye. In addition, the review highlights the impact of mutations in NHRs on a spectrum of human diseases from autism to retinal degeneration.

15.
Rev. cuba. pediatr ; 92(2): e832, abr.-jun. 2020. graf
Artigo em Espanhol | LILACS, CUMED | ID: biblio-1126752

RESUMO

Introducción: El carcinoma verrugoso es una variante inusual bien diferenciada del carcinoma epidermoide que tiende a aparecer en adultos de mediana edad o mayores. Se considera una neoplasia maligna de grado bajo con cuatro subtipos principales. Objetivo: Referir la infrecuente presentación del carcinoma verrugoso en un adolescente. Presentación de caso: Escolar masculino de 12 años de edad, de raza mestiza, que acude a Consulta Especializada de Dermatología en el Hospital Clínico Quirúrgico Docente Celia Sánchez Manduley con lesión vegetante localizada en planta de pie derecho; se realizan complementarios, biopsia excisional más injerto y se concluye el caso como epitelioma curriculatum. Conclusiones: A nivel clínico, los carcinomas verrugosos se presentan en forma de tumores exofíticos con una superficie papilomatosa o verrugosa. Se asocian con frecuencia a la infección por el virus del papiloma humano, y puede ser difícil distinguir entre un carcinoma verrugoso y una verruga. Es importante el reconocimiento temprano para guiar un diagnóstico preciso y tratamiento oportuno(AU)


Introduction: Verrucous carcinoma is a well differentiated unusual variant of squamous cell carcinoma that tends to occur in middle-aged or older adults. It is considered a low-grade malignant tumour with four main subtypes. Objective: To explain the uncommon presentation of the verrucous carcinoma in a teenager and the importance of early recognition to guide an accurate diagnosis and a timely treatment. Case presentation: 12 years old, school age male, mixed race who attends to specialized consultation of Dermatology in Celia Sánchez Manduley Surgical Clinical Hospital presenting a vegetating lesion located in the right foot´s sole; there were made complementary blood tests, an excisional biopsy plus graft and the case was finally diagnoses as curriculatum epithelioma. Conclusions: At the clinical level, the verrucous carcinomas are presented in the form of exophytic tumors with a papillomatous or verrucous surface. They are often associated with the human papilloma virus infection, and it may be difficult to distinguish between a verrucous carcinoma and a wart(AU)


Assuntos
Humanos , Masculino , Criança , Carcinoma de Células Escamosas/diagnóstico , Carcinoma Verrucoso/patologia , Carcinoma Verrucoso/epidemiologia
16.
Rev. cuba. pediatr ; 92(2): e923, abr.-jun. 2020. graf
Artigo em Espanhol | LILACS, CUMED | ID: biblio-1126753

RESUMO

Introducción: La acrodermatitis enteropática es una dermatosis nutricional heredada o adquirida por deficiencia de zinc que clínicamente se caracteriza por eritema, escamocostras y erosiones, especialmente en la región perioral, en zonas acras y en la región anogenital. Además de una ingesta oral inadecuada, hay causas secundarias de esta deficiencia nutricional. Objetivo: Referir una dermatosis nutricional secundaria infrecuente en lactante femenina. Presentación de caso: Pequeñita de 6 meses de edad, fototipo III, alimentada con lactancia materna exclusiva, que acude a consulta especializada de dermatología en el hospital William Soler por cuadro clínico de 3 meses de evolución caracterizado por lesiones eritematocostrosas en regiónes acrales y periorificiales. Los padres refirieron lactancia materna exclusiva. Se realizaron complementarios Conclusiones: Las deficiencias de vitaminas y oligoelementos pueden ocasionar un amplio rango de hallazgos mucocutaneos. En el caso presentado diagnosticado como acrodermatitis enteropática adquirida, hay un aporte inadecuado de zinc en la leche materna(AU)


Introduction: Acrodermatitis enteropathica is an inherited or acquired nutritional dermatosis by zinc deficiency that is clinically characterized by erythema, squamous crusts and erosions, especially in the perioral region, in acral areas and in the anogenital region. In addition to inadequate oral intake, there are secondary causes of this nutritional deficiency. Objective: To refer a nutritional dermatosis uncommon in female infants. Case presentation: 6-months-old baby girl, skin phototype III, fed with exclusive breastfeeding whom was attended in the specialized consultation in Dermatology of William Soler Pediatric Hospital due to clinical framework of 3 months of evolution characterized by eritemato crusty lesions in acral and periorifices´ regions. Parents commented on exclusive breastfeeding. There were made complementary blood tests. Conclusions: The deficiencies of vitamins and trace elements may cause a wide range of mucocutaneous findings. In the presented case diagnosed as adquired acrodermatitis enteropathica, there is an inadequate intake of zinc in breast milk(AU)


Assuntos
Humanos , Feminino , Lactente , Acrodermatite/diagnóstico , Acrodermatite/epidemiologia
17.
Int. braz. j. urol ; 46(1): 83-89, Jan.-Feb. 2020. tab, graf
Artigo em Inglês | LILACS | ID: biblio-1056362

RESUMO

ABSTRACT Purpose: Obliterative urethral stenosis is a type of urethral lesion that compromises the whole corpus spongiosum's circumference. We present our experience in resolving complex long segment urethral obliteration in a single procedure using a combination of dorsal onlay oral mucosa graft (OMG) and ventral fasciocutaneous penile skin flap. Materials and methods: A prospectively maintained database was reviewed, which included data of men presenting long, obliterative strictures. Patients were excluded if they were lost to follow-up before one year. Failure was defined as need for further urethral instrumentation. The surgical technique used consisted on the fixation of OMG to the tunica albuginea of the corpus cavernosum, thus creating a new urethral plate. Penile or foreskin flaps were employed to complete the ventral aspect. Postoperative follow-up was done with a voiding cystourethrography at week 3. Results: A total of 21 patients were included with a median age of 49 years. Mean follow-up was 25 months. Failure was found for 3 patients (2 of them needing dilations and only one required a new urethral reconstruction). Conclusion: Single stage combination of dorsal OMG with ventral fasciocutaneous penile flap showed good results for selected patients affected with obliterative urethral stenosis.


Assuntos
Humanos , Masculino , Pênis/cirurgia , Retalhos Cirúrgicos/transplante , Estreitamento Uretral/cirurgia , Procedimentos de Cirurgia Plástica/métodos , Mucosa Bucal/transplante , Estudos Prospectivos , Reprodutibilidade dos Testes , Seguimentos , Resultado do Tratamento , Estimativa de Kaplan-Meier , Duração da Cirurgia , Pessoa de Meia-Idade
18.
Rev. cuba. pediatr ; 92(1): e747, ene.-mar. 2020. graf
Artigo em Espanhol | LILACS, CUMED | ID: biblio-1093751

RESUMO

Introducción: La incontinencia pigmentaria es una genodermatosis poco frecuente, con herencia dominante ligada al cromosoma X, que se presenta casi exclusivamente en mujeres. Objetivo: Informar un caso de incontinencia pigmentaria familiar (madre e hija), trastorno neuroectodérmico sistémico infrecuente. Presentación del caso: Lactante femenina remitida del servicio de neurología a la consulta especializada de dermatología en el Hospital William Soler, por alteraciones en el desarrollo psicomotor y crisis epilépticas con lesiones vegetantes hiperpigmentadas que siguen las líneas de Blaschko. En la madre se detectaron lesiones atróficas con una disposición similar. Conclusiones: Esta rara enfermedad debe sospecharse por erupción cutánea que sigue las líneas de Blaschko, habitualmente presentes en el nacimiento y que evoluciona en etapas consecutivas características. Resaltamos la importancia del asesoramiento genético, con el fin de prevenir futuras generaciones afectadas, así como el manejo multidisciplinario en esta genodermatosis(AU)


Introduction: Incontinencia pigmenti is a rare genodermatoses with dominant inheritance linked to X chromosome that occurs almost exclusively in women. Objective: To report a case of family incontinentia pigmenti (mother and daughter), which is a systemic neuroectodermal disorder rare in pediatrics. Case presentation: Female infant referred from the neurology service to the dermatology specialist in William Soler Hospital due to alterations in the psychomotor development and epileptic seizures with hyperpigmented vegetative lesions that follow the Blaschko lines. In the mother, atrophic lesions were detected with a similar distribution. Conclusions: This rare disease should be suspected by rash that follows the Blaschko lines, usually present at birth and that develops in characteristic consecutive stages. We emphasize the importance of genetic counselling in order to prevent future generations to be affected, as well as the multidisciplinary management in this genodermatoses(AU)


Assuntos
Humanos , Feminino , Lactente , Incontinência Pigmentar/genética , Incontinência Pigmentar/epidemiologia
19.
PLoS One ; 10(9): e0135927, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26352270

RESUMO

Autism spectrum disorders (ASDs) are a range of complex neurodevelopmental conditions principally characterized by dysfunctions linked to mental development. Previous studies have shown that there are more than 1000 genes likely involved in ASD, expressed mainly in brain and highly interconnected among them. We applied whole exome sequencing in Colombian-South American trios. Two missense novel SNVs were found in the same child: ALDH1A3 (RefSeq NM_000693: c.1514T>C (p.I505T)) and FOXN1 (RefSeq NM_003593: c.146C>T (p.S49L)). Gene expression studies reveal that Aldh1a3 and Foxn1 are expressed in ~E13.5 mouse embryonic brain, as well as in adult piriform cortex (PC; ~P30). Conserved Retinoic Acid Response Elements (RAREs) upstream of human ALDH1A3 and FOXN1 and in mouse Aldh1a3 and Foxn1 genes were revealed using bioinformatic approximation. Chromatin immunoprecipitation (ChIP) assay using Retinoid Acid Receptor B (Rarb) as the immunoprecipitation target suggests RA regulation of Aldh1a3 and Foxn1 in mice. Our results frame a possible link of RA regulation in brain to ASD etiology, and a feasible non-additive effect of two apparently unrelated variants in ALDH1A3 and FOXN1 recognizing that every result given by next generation sequencing should be cautiously analyzed, as it might be an incidental finding.


Assuntos
Aldeído Oxirredutases/genética , Transtorno do Espectro Autista/genética , Exoma , Fatores de Transcrição Forkhead/genética , Receptores do Ácido Retinoico/genética , Tretinoína/metabolismo , Adulto , Aldeído Oxirredutases/metabolismo , Animais , Transtorno do Espectro Autista/metabolismo , Transtorno do Espectro Autista/patologia , Sequência de Bases , Encéfalo/crescimento & desenvolvimento , Encéfalo/metabolismo , Encéfalo/patologia , Criança , Estudos de Coortes , Colômbia , Embrião de Mamíferos , Feminino , Fatores de Transcrição Forkhead/metabolismo , Regulação da Expressão Gênica no Desenvolvimento , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Masculino , Camundongos , Camundongos Endogâmicos C57BL , Dados de Sequência Molecular , Linhagem , Testes Psicológicos , Receptores do Ácido Retinoico/metabolismo , Elementos de Resposta , Transdução de Sinais
20.
Rev. chil. dermatol ; 35(4): 146-149, 2019. ilus
Artigo em Espanhol | LILACS | ID: biblio-1120285

RESUMO

Se presenta caso de paciente masculino de 67 años de edad, fototipo III, con antecedentes patológicos personales de lepra lepromatosa en tratamiento, que acude a consulta especializada de Dermatología en el Hospital Guillermo Fernández Baquero (La Habana, Cuba) por lesiones ulcerosas diseminadas. Se realizan complementarios y se concluye caso como fenómeno de Lucio. Resaltando la infrecuencia de este eritema necrosante y la severidad de los estados reactivos de la lepra pues son procesos distintos pero destructores de los tejidos, supuestamente dirigidos por el sistema inmunológico que aumentan en gran medida la morbimortalidad de esta enfermedad


A case of a 67 year old male patient, phototype III, with a personal pathological history of lepromatous leprosy in treatment is presented at a specialized dermatology clinic at Guillermo Fernández Vaquero hospital for disseminated ulcerative lesions. Complementary are performed and case is concluded as a phenomenon of Lucio. Highlighting the infrequency of this necrotizingerythema and the severity of the reactive states of leprosy are different but destructive processes of the tissues, supposedlydirected by the immune system that greatly increase the morbidity and mortality of this disease.


Assuntos
Humanos , Masculino , Idoso , Úlcera Cutânea/diagnóstico , Úlcera Cutânea/etiologia , Hanseníase Virchowiana/complicações , Úlcera Cutânea/patologia , Eritema , Necrose
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