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1.
J Intellect Disabil ; 27(4): 1062-1084, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-35420906

RESUMO

Virtual reality (VR) and augmented reality (AR) programs have proliferated significantly in recent years and they are finding their way into different educational and therapeutic purposes. This systematic review aims at analyzing the virtual reality and augmented reality programs designed to promote the development of social skills in individuals with intellectual disability. Searches were carried out in the Scopus, Science Direct, Springer and Web of Science databases in the period from 2005 to 2020. A total of six articles met the inclusion criteria. A descriptive data analysis was performed. The results show that the clinical profile of the individuals who participated in the interventions is diverse. It can be concluded that there is some scientific evidence that points to the usefulness of VR and AR in the development of intervention programs to improve the social skills of individuals diagnosed with developmental deficits. However, it is necessary to acknowledge methodological limitations such as the lack of control groups, follow-up measures and of generalization of the results.


Assuntos
Realidade Aumentada , Deficiência Intelectual , Realidade Virtual , Humanos , Habilidades Sociais
2.
Diversitas perspectiv. psicol ; 18(1): 5-18, ene.-jun. 2022. tab, graf
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1421355

RESUMO

Resumen Desde la Teoría de los Marcos Relacionales, la toma de perspectiva se concibe como un patrón de responder relacional arbitrariamente aplicable bajo control de claves contextuales deícticas personales, espaciales y temporales. Además, se asume necesaria la capacidad para responder relacionalmente bajo el control de claves contextuales condicionales. Sin embargo, no se ha reportado evidencia empírica que permita identificar la relación existente entre los marcos de condicionalidad y la precisión en el responder relacional deíctico. El objetivo del estudio fue analizar si el entrenamiento en marco de condicionalidad podría facilitar el desempeño sobre el responder deíctico. Participaron cuatro niños con desarrollo normalizado que fueron divididos en dos condiciones experimentales (C1 y C2). Los participantes de ambas condiciones se expusieron a un protocolo de evaluación y entrenamiento en marcos deícticos. A su vez, solo los participantes de la C2 se expusieron a una fase de evaluación y entrenamiento en marcos de condicionalidad previo al entrenamiento en marcos deícticos. Los resultados mostraron que todos los participantes exhibieron mejoras en sus ejecuciones post-test en las relaciones deícticas y que los participantes de C2 obtuvieron mejores resultados con respecto a su pre-test en los niveles de mayor complejidad deíctica tras el entrenamiento en marcos condicionales. Se discute la necesidad de protocolos de toma de perspectiva más naturalistas que posibiliten indagar en cómo se desarrollan los términos relacionales y se abstrae la función de las claves contextuales que permiten interpretar, atribuir y predecir el comportamiento de otro.


Abstract According to Relational Frame Theory, perspective taking is conceived as an arbitrarily applicable relational pattern of relational responding under the control of personal, spatial, and temporal deictic contextual cues. Furthermore, the ability to respond relationally under the control of conditional contextual cues is assumed to be necessary. However, no empirical evidence has been reported to identify the relationship between conditionality frames and accuracy in deictic relational responding. The study aimed to analyze whether training in conditionality frames could facilitate performance on deictic responding. Four children with normalized development participated and were divided into two experimental conditions (C1 and C2). Participants in both conditions were exposed to an evaluation protocol and training on deictic frames. In turn, only C2 participants were exposed to an evaluation and training phase in conditionality frames before the training in deictic frames. Results showed that all the participants exhibited improvements in their post-test performances on deictic relations and that the C2 participants performed better with respect to their pre-test on the levels of greater deictic complexity after training in conditional frames. We discuss the need for more naturalistic perspective-taking protocols that allow us to investigate how relational terms are developed and abstract the role of contextual cues that allow us to interpret, attribute, and predict another's behavior.

3.
Artigo em Inglês | MEDLINE | ID: mdl-35270365

RESUMO

The impact of assisted reproduction techniques (ART) when starting to breastfeed is an important issue that has been sparsely addressed in scientific literature and yet has contradictory results. This study aims to determine the relation between the mode of fertilization and breastfeeding by means of a retrospective longitudinal cohort study that included newborns and mothers who gave birth between 2012 and 2019 in a third-level regional hospital. Data were collected from a total of 11,285 women and newborns, of which 302 (2.6%) used ART. Logistic regression was used to establish models that determine the administration of exclusive breastfeeding (BF). Among the 1208 analyzed participants, 30% conceived using fertility treatment. In this group of participants, BF was less prevalent, both in the delivery room (25.8% versus 45.5%; p < 0.001) and when discharged from hospital (42.1% versus 57.9%; p < 0.001). Healthy newborns and BF in the delivery room were predictors of BF when discharged. On the other hand, the use of ART, an Apgar score lower than 7 at birth, the use of an epidural and a premature or underweight baby are considered negative predictors of exclusive BF when discharged. It is necessary to offer greater support for all mothers regarding BF, especially those who have conceived through ART, even more so in those cases that involve an epidural and/or caesarean section, starting throughout the dilation process.


Assuntos
Aleitamento Materno , Cesárea , Feminino , Humanos , Lactente , Recém-Nascido , Estudos Longitudinais , Mães , Gravidez , Reprodução , Estudos Retrospectivos
4.
J Med Entomol ; 57(3): 801-806, 2020 05 04.
Artigo em Inglês | MEDLINE | ID: mdl-31788689

RESUMO

The objective of this investigation was to know whether the organophosphate temephos resistance developed in larvae from a laboratory strain of Aedes aegypti (Linnaeus, 1762) from Cuba could be reversed. The resistant laboratory strain of Ae. aegypti, named SAN-F6, was left without temephos selection pressure for 12 generations. The level of temephos resistance was determined using WHO bioassays and mechanisms of metabolic resistance were determined based on enzyme activity levels detected by biochemical assays. Bioassays and biochemical assays were conducted on the SAN-F6 parental strain and every three reversal generations (SANRevF3, SANRevF6, SANRevF9, and SANRevF12) without temephos selection pressure. After 19 yr of keeping the SAN-F6 strain under selection pressure with the LC90 of temephos, the resistance ratio (RR50) was 47.5×. Biochemical assays indicated that esterase and glutathione S-transferase are still responsible for temephos resistance in this strain, but not mixed-function oxidase. Experiments on resistance reversal showed that temephos susceptibility could be recovered as α esterase activity levels decreased. The SAN-F6 strain has provided an essential basis for studies of temephos resistance in Cuba. It was demonstrated that the resistance developed to the larvicide temephos in Ae. aegypti from this Cuban lab strain is a reversible phenomenon, which suggests that similar outcomes might be expected in field populations. As such, the use of temephos alternated with other larvicides recommended by WHO such as Bti or pyriproxyfen is recommended to maintain the effectiveness of temephos and to achieve more effective control of Ae. aegypti.


Assuntos
Aedes , Resistência a Inseticidas/genética , Inseticidas , Seleção Genética , Temefós , Animais , Larva
5.
Sleep Med Rev ; 44: 37-47, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30640161

RESUMO

Sleep disturbances and suicidal behaviour are highly prevalent phenomena, representing with a significant burden to society. Sleep has been acknowledged as a potential biomarker for suicidal behaviour. Over the past decade several studies have explored the association between sleep problems and suicidal behaviour. This area has attracted a growing research interest, hence updated information is needed. We therefore present a wide-scope review of the literature summarizing the most relevant studies on epidemiological and theoretical issues underlying this association. Implications of these findings for clinical practice and future research are discussed. We performed a systematic search of PubMed and Embase databases up to October 2018 to identify studies exploring the association between sleep and suicide. Sixty-five articles met the selection criteria, thus they were included in the review. There was a significant and independent association between sleep disturbances and suicide risk. Psychiatric disorders, sleep deprivation-induced neurocognitive deficits, emotional dysregulation, alterations in circadian rhythms, and negative feelings, among other factors, contributed to this relationship. Sleep loss may lead to higher levels of impulsivity, thus increasing unplanned suicidal behaviour. Sleep disturbances may therefore predict suicidal behaviour, hence becoming a potential therapeutic target.


Assuntos
Privação do Sono/epidemiologia , Ideação Suicida , Tentativa de Suicídio , Humanos , Fatores de Risco
7.
Front Physiol ; 8: 862, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-29163206

RESUMO

Polyploidy, the existence of cells containing more than one pair of chromosomes, is a well-known feature of mammalian hepatocytes. Polyploid hepatocytes are found either as cells with a single polyploid nucleus or as multinucleated cells with diploid or even polyploid nuclei. In this study, we evaluate the degree of polyploidy in the murine liver by accounting both DNA content and number of nuclei per cell. We demonstrate that mouse hepatocytes with diploid nuclei have distinct metabolic characteristics compared to cells with polyploid nuclei. In addition to strong differential gene expression, comprising metabolic as well as signaling compounds, we found a strongly decreased insulin binding of nuclear polyploid cells. Our observations were associated with nuclear ploidy but not with total ploidy within a cell. We therefore suggest ploidy of the nuclei as an new diversity factor of hepatocytes and hypothesize that hepatocytes with polyploid nuclei may have distinct biological functions than mono-nuclear ones. This diversity is independent from the well-known heterogeneity related to the cells' position along the porto-central liver-axis.

8.
Neuropsychol Rev ; 27(3): 202-219, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28831649

RESUMO

Several brain imaging markers have been studied in the development of post-stroke depression (PSD) and post-stroke apathy (PSA), but inconsistent associations have been reported. This systematic review and meta-analysis aims to provide a comprehensive and up-to-date evaluation of imaging markers associated with PSD and PSA. Databases (Medline, Embase, PsycINFO, CINAHL, and Cochrane Database of Systematic Reviews) were searched from inception to July 21, 2016. Observational studies describing imaging markers of PSD and PSA were included. Pooled odds ratios (OR) and 95% confidence intervals (CI) were calculated to examine the association between PSD or PSA and stroke lesion laterality, type, and location, also stratified by study phase (acute, post-acute, chronic). Other imaging markers were reviewed qualitatively. The search retrieved 4502 studies, of which 149 studies were included in the review and 86 studies in the meta-analyses. PSD in the post-acute stroke phase was significantly associated with frontal (OR 1.72, 95% CI 1.34-2.19) and basal ganglia lesions (OR 2.25, 95% CI 1.33-3.84). Hemorrhagic stroke related to higher odds for PSA in the acute phase (OR 2.58, 95% CI 1.18-5.65), whereas ischemic stroke related to higher odds for PSA in the post-acute phase (OR 0.20, 95% CI 0.06-0.69). Frequency of PSD and PSA is modestly associated with stroke type and location and is dependent on stroke phase. These findings have to be taken into consideration for stroke rehabilitation programs, as this could prevent stroke patients from developing PSD and PSA, resulting in better clinical outcome.


Assuntos
Apatia , Depressão/diagnóstico por imagem , Acidente Vascular Cerebral/diagnóstico por imagem , Acidente Vascular Cerebral/patologia , Biomarcadores , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Depressão/complicações , Depressão/patologia , Humanos , Estudos Observacionais como Assunto , Acidente Vascular Cerebral/complicações , Acidente Vascular Cerebral/psicologia
9.
Sci Rep ; 6: 37631, 2016 11 24.
Artigo em Inglês | MEDLINE | ID: mdl-27883018

RESUMO

Isothiocyanates are the most intensively studied breakdown products of glucosinolates from Brassica plants and well recognized for their pleiotropic effects against cancer but also for their genotoxic potential. However, knowledge about the bioactivity of glucosinolate-borne nitriles in foods is very poor. As determined by GC-MS, broccoli glucosinolates mainly degrade to nitriles as breakdown products. The cytotoxicity of nitriles in human HepG2 cells and primary murine hepatocytes was marginal as compared to isothiocyanates. Toxicity of nitriles was not enhanced in CYP2E1-overexpressing HepG2 cells. In contrast, the genotoxic potential of nitriles was found to be comparable to isothiocyanates. DNA damage was persistent over a certain time period and CYP2E1-overexpression further increased the genotoxic potential of the nitriles. Based on actual in vitro data, no indications are given that food-borne nitriles could be relevant for cancer prevention, but could pose a certain genotoxic risk under conditions relevant for food consumption.


Assuntos
Alimentos , Fígado/metabolismo , Modelos Biológicos , Mutagênicos/toxicidade , Nitrilas/toxicidade , Animais , Brassicaceae/química , Morte Celular/efeitos dos fármacos , Sobrevivência Celular/efeitos dos fármacos , Sistema Enzimático do Citocromo P-450/metabolismo , Quebras de DNA de Cadeia Dupla/efeitos dos fármacos , Glucosinolatos/química , Células Hep G2 , Hepatócitos/efeitos dos fármacos , Hepatócitos/metabolismo , Humanos , Isotiocianatos/toxicidade , Fígado/efeitos dos fármacos , Camundongos , Nitrilas/química , Transfecção , Verduras/química
10.
Rev. electron ; 41(7)jul. 2016. tab
Artigo em Espanhol | CUMED | ID: cum-65933

RESUMO

Fundamento: la dermatitis atópica es una enfermedad crónica de la piel, recurrente, caracterizada por lesiones inflamatorias en ubicaciones típicas. Intervienen en su patogenia y evolución múltiples factores, algunos relacionados con el sistema inmune y las infecciones por Staphylococcus aureus, el cual se puede aislar en el 90 por ciento de estos enfermos.Objetivo: describir las alteraciones en parámetros humorales y celulares relacionados con la inmunidad en sujetos con diagnóstico de dermatitis atópica, atendidos en el Hospital General Docente Dr. Ernesto Guevara de la Serna, Las Tunas, desde enero de 2013 a julio de 2014.Métodos: se realizó un estudio transversal con 19 pacientes mayores de un año de edad, remitidos a la consulta de inmunología del referido hospital, con diagnóstico establecido de la entidad, infección en piel por Staphylococcus aureus recidivante de difícil tratamiento y sospecha de inmunodeficiencia; además del interrogatorio, la revisión de historias clínicas y el examen físico, se indicaron complementarios para determinar el estado de variables inmunitarias.Resultados: la edad que predominó fue la comprendida entre 5 y 10 años. Los resultados de los estudios inmunológicos realizados mostraron que 89,4 por ciento de los pacientes cursó con eosinofilia, mientras que 78,9 por ciento tuvo la IgE aumentada. Se encontró un incremento de la IgG en 68,4 por ciento de los casos y el 21,0 por ciento presentó disminución de la IgA. En dos pacientes, en los que se encontró deficiencia fagocítica, también hubo infección por Aspergillus. En ningún caso aparecieron alteraciones en el sistema complemento.Conclusiones: además de los indicadores típicos de atopia, la deficiencia de IgA fue la alteración inmunitaria más frecuente en los individuos estudiados (AU)


Background: atopic dermatitis is a recurrent chronic disease of the skin, characterized by inflammatory lesions in typical locations. Multiple factors are part of its pathogenesis and evolution; some of them are related to the immune system and to infections by Staphylococcus aureus, which was isolated in 90 percent of the patients. Objective: to determine the alterations in humoral and cellular parameters related to immunity in subjects diagnosed with atopic dermatitis.Methods: a cross-sectional study was carried out in 19 patients older than 1 year of age who attended the immunology service at Dr. Ernesto Guevara Hospital in Las Tunas, Cuba, with an established diagnosis of atopic dermatitis, skin infection by Staphylococcus aureus, recurrent and non-respondent to treatment, as well as being suspected to have immunodeficiency; besides the interview, health history analysis and physical examination, laboratory tests were ordered to determine the status of immune variables.Results: the prevailing age was between 5 and 10 years old. Immune lab tests showed that 89,4 percent of patients had eosinophilia, while 78,9 percent had increased levels of IgE. Higher than normal levels of IgG were found in 68,4 percent of the cases and 21 percent showed a diminishment in IgA. In two patients who had a phagocytic deficiency, they were also infected by Aspergillus. No alterations in the complement system were found in any case.Conclusions: besides the typical markers of atopy, IgA deficiency was the most frequent immune disturbance found in the patients included in the sample (AU)


Assuntos
Humanos , Criança , Dermatite Atópica , Síndromes de Imunodeficiência , Anticorpos
11.
Pediatr Nephrol ; 31(7): 1179-88, 2016 07.
Artigo em Inglês | MEDLINE | ID: mdl-26862052

RESUMO

BACKGROUND: Urinary biomarkers may be indicators of acute kidney injury (AKI), although little is known of their developmental characteristics in healthy neonates across a full range of gestational age (GA). The purpose of this study was to examine patterns of urinary biomarkers across GA groups from birth to 3 months of age. METHODS: Fifty-two infants ranging from 24 to 41 weeks' GA had urine assayed from birth through 3 months of age for 7 biomarkers including albumin (ALB), beta-2-microglobulin (B2M), cystatin-C (CysC), epidermal growth factor (EGF), neutrophil-gelatinase-associated lipocalin (NGAL), osteopontin (OPN), and uromodulin (UMOD). RESULTS: Of the seven urinary biomarkers, EGF and UMOD increased while others decreased with advancing GA. By 3 months of age, EGF and UMOD had increased in preterm infants to levels similar to those of term infants. UMOD/ml and EGF/ml appeared to be predominantly developmental biomarkers distinguishing estimated glomerular filtration rate (GFR) <30 ml/min/1.73 m(2) with receiver operator characteristic area under the curve (ROC-AUC) of 0.82; p = 0.002. When factored by urine creatinine CysC/cr + ALB/cr were the most significant functional markers with AUC = 0.79; p = 0.004; sensitivity 96 %; specificity 58 %. CONCLUSIONS: Among healthy neonates, urinary biomarkers vary with GA. These data support the use of urinary biomarkers in the assessment of normal kidney development in the absence of injury.


Assuntos
Injúria Renal Aguda/urina , Biomarcadores/urina , Lactente Extremamente Prematuro/urina , Recém-Nascido/urina , Recém-Nascido Prematuro/urina , Idade Gestacional , Humanos , Estudos Longitudinais , Valores de Referência
12.
Mol Nutr Food Res ; 59(11): 2178-89, 2015 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-26251050

RESUMO

SCOPE: Glucosinolates are secondary metabolites present in Brassica vegetables. Alkenyl glucosinolates are enzymatically degraded forming nitriles or isothiocyanates, but in the presence of epithiospecifier protein, epithionitriles are released. However, studies on the occurrence of epithionitriles in Brassica food and knowledge about their biological effects are scarce. METHODS AND RESULTS: Epithionitrile formation from glucosinolates of seven Brassica vegetables was analyzed using GC-MS and HPLC-DAD. Bioactivity of synthetic and plant-derived 1-cyano-2,3-epithiopropane (CETP) - the predominant epithionitrile in Brassica vegetables - in three human hepatocellular carcinoma (HCC) cell lines and primary murine hepatocytes was also evaluated. The majority of the Brassica vegetables were producers of nitriles or epithionitriles as hydrolysis products and not of isothiocyanates. For example, Brussels sprouts and savoy cabbage contained up to 0.8 µmol CETP/g vegetable. Using formazan dye assays, concentrations of 380-1500 nM CETP were observed to inhibit the mitochondrial dehydrogenase activity of human HCC cells without impairment of cell growth. At 100-fold higher CETP concentrations, cell death was observed. Presence of plant matrix increased CETP-based toxicity. CONCLUSION: These in vitro data provide no indication that epithionitriles will severely affect human health by Brassica consumption. In contrast to isothiocyanates, no evidence of selective toxicity against HCC cells was found.


Assuntos
Apoptose/efeitos dos fármacos , Brassica/metabolismo , Neoplasias Hepáticas/tratamento farmacológico , Nitrilas/farmacologia , Propano/análogos & derivados , Compostos de Sulfidrila/farmacologia , Ciclo Celular/efeitos dos fármacos , Sobrevivência Celular/efeitos dos fármacos , Células Hep G2 , Hepatócitos/efeitos dos fármacos , Humanos , Neoplasias Hepáticas/patologia , Necrose , Nitrilas/análise , Oxirredução , Extratos Vegetais/análise , Propano/análise , Propano/farmacologia , Compostos de Sulfidrila/análise
13.
Pediatr Blood Cancer ; 62(10): 1694-9, 2015 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-26053587

RESUMO

Sickle cell trait (SCT) carries a small risk of renal medullary carcinoma (RMC). We conducted a systematic literature review and reported new four RMC cases (total N = 217). Eighty eight percent had SCT and 8% had sickle cell disease; 50% were children. Males had 2.4× risk than females. Isolated hematuria or in combination with abdominal or flank pain was the presenting sign in 66% cases. Tumor-related mortality was 95%. Four non-metastatic patients were long-term disease-free survivors. Although risk appears to be very low, individuals with SCT should be informed about the low risk of RMC with the hope of early diagnosis. Hematuria should prompt immediate investigation.


Assuntos
Carcinoma Medular/genética , Predisposição Genética para Doença/genética , Neoplasias Renais/genética , Traço Falciforme/genética , Humanos
14.
J Pediatr Surg ; 50(5): 879-81, 2015 May.
Artigo em Inglês | MEDLINE | ID: mdl-25783390

RESUMO

Heterotopic gastric mucosa (HGM) is a rare, but acknowledged source of gastrointestinal pathology in pediatric patients. Sometimes clinically confused with a Meckel's diverticulum, HGM diagnosis is often made postoperatively by pathology. We present a case of jejunal HGM with a positive technetium pertechnetate scan in the right lower quadrant that resembled a Meckel's diverticulum.


Assuntos
Coristoma/diagnóstico por imagem , Mucosa Gástrica , Doenças do Jejuno/diagnóstico por imagem , Divertículo Ileal/diagnóstico , Criança , Coristoma/cirurgia , Diagnóstico Diferencial , Feminino , Gastrectomia , Humanos , Doenças do Jejuno/cirurgia , Tomografia por Emissão de Pósitrons
15.
Fetal Pediatr Pathol ; 33(5-6): 293-320, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25313840

RESUMO

This article reviews the majority of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) with emphasis in Pediatric Pathology describing and illustrating lesions as varied as ureteral duplications, ureteropelvic junction obstruction, horseshoe kidney, posterior urethral valve and prune belly syndrome, obstructive renal dysplasia, nonmotile ciliopathies and several syndromes associated with renal malformations (Meckel-Joubert, short rib, Bardet-Biedl, asplenia/polysplenia, hereditary renal adysplasia, Zellweger, trisomies, VACTER-L, Potter, caudal dysplasia, and sirenomelia), as well as ADPK, and ARPK. The purpose of this review is not only to describe the congenital renal anomalies, but also to analyze the more recent therapeutic interventions that may modify the natural history of some of these severe conditions.


Assuntos
Rim/anormalidades , Anormalidades Urogenitais/patologia , Criança , Humanos
16.
Am J Physiol Gastrointest Liver Physiol ; 307(10): G992-G1001, 2014 Nov 15.
Artigo em Inglês | MEDLINE | ID: mdl-25258405

RESUMO

Microvillus inclusion disease (MVID) is an autosomal recessive condition resulting in intractable secretory diarrhea in newborns due to loss-of-function mutations in myosin Vb (Myo5b). Previous work suggested that the apical recycling endosomal (ARE) compartment is the primary location for phosphoinositide-dependent protein kinase 1 (PDK1) signaling. Because the ARE is disrupted in MVID, we tested the hypothesis that polarized signaling is affected by Myo5b dysfunction. Subcellular distribution of PDK1 was analyzed in human enterocytes from MVID/control patients by immunocytochemistry. Using Myo5b knockdown (kd) in Caco-2BBe cells, we studied phosphorylated kinases downstream of PDK1, electrophysiological parameters, and net water flux. PDK1 was aberrantly localized in human MVID enterocytes and Myo5b-deficient Caco-2BBe cells. Two PDK1 target kinases were differentially affected: phosphorylated atypical protein kinase C (aPKC) increased fivefold and phosohoprotein kinase B slightly decreased compared with control. PDK1 redistributed to a soluble (cytosolic) fraction and copurified with basolateral endosomes in Myo5b kd. Myo5b kd cells showed a decrease in net water absorption that could be reverted with PDK1 inhibitors. We conclude that, in addition to altered apical expression of ion transporters, depolarization of PDK1 in MVID enterocytes may lead to aberrant activation of downstream kinases such as aPKC. The findings in this work suggest that PDK1-dependent signaling may provide a therapeutic target for treating MVID.


Assuntos
Polaridade Celular , Enterócitos/metabolismo , Síndromes de Malabsorção/metabolismo , Microvilosidades/patologia , Mucolipidoses/metabolismo , Cadeias Pesadas de Miosina/metabolismo , Miosina Tipo V/metabolismo , Transdução de Sinais , Proteínas Quinases Dependentes de 3-Fosfoinositídeo/antagonistas & inibidores , Proteínas Quinases Dependentes de 3-Fosfoinositídeo/metabolismo , Células CACO-2 , Estudos de Casos e Controles , Regulação para Baixo , Endossomos/metabolismo , Enterócitos/efeitos dos fármacos , Humanos , Síndromes de Malabsorção/tratamento farmacológico , Síndromes de Malabsorção/genética , Microvilosidades/genética , Microvilosidades/metabolismo , Terapia de Alvo Molecular , Mucolipidoses/tratamento farmacológico , Mucolipidoses/genética , Mutação , Cadeias Pesadas de Miosina/genética , Miosina Tipo V/genética , Fosforilação , Proteína Quinase C/metabolismo , Inibidores de Proteínas Quinases/farmacologia , Transporte Proteico , Proteínas Proto-Oncogênicas c-akt/metabolismo , Interferência de RNA , Transdução de Sinais/efeitos dos fármacos , Transfecção , Água/metabolismo
17.
Fetal Pediatr Pathol ; 33(4): 253-7, 2014 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-24754368

RESUMO

Noonan Syndrome is an autosomal dominant disorder characterized by short stature, congenital heart defects, developmental delay, dysmorphic facial features and occasional lymphatic dysplasias. The features of Noonan Syndrome change with age and have variable expression. The diagnosis has historically been based on clinical grounds. We describe a child that was born with congenital refractory chylothorax and subcutaneous edema suspected to be secondary to pulmonary lymphangiectasis. The infant died of respiratory failure and anasarca at 80 days. The autopsy confirmed lymphatic dysplasia in lungs and mesentery. The baby had no dysmorphic facial features and was diagnosed postmortem with Noonan syndrome by genomic DNA sequence analysis as he had a heterozygous mutation for G503R in the PTPN11 gene.


Assuntos
Doenças em Gêmeos/patologia , Anormalidades Linfáticas/patologia , Síndrome de Noonan/patologia , Quilotórax/congênito , Quilotórax/patologia , Análise Mutacional de DNA , Doenças em Gêmeos/diagnóstico , Doenças em Gêmeos/genética , Evolução Fatal , Humanos , Lactente , Pulmão/patologia , Linfangiectasia/congênito , Linfangiectasia/patologia , Masculino , Síndrome de Noonan/diagnóstico , Síndrome de Noonan/genética , Proteína Tirosina Fosfatase não Receptora Tipo 11/genética , Gêmeos Dizigóticos
18.
J Pediatr Surg ; 48(9): 1977-80, 2013 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-24074678

RESUMO

We report an otherwise well developing 2-year-old girl who presented with a urachal sinus with its opening located at the midline between umbilicus and the pubic symphysis. Diagnosis was made by ultrasound preoperatively, and confirmed during surgery. Additionally, columnar epithelium was found in the portion of sinus tract traversing the abdominal wall. Metaplasia of the sinus tract is worrisome, as urachal carcinomas have been traditionally characterized to result from this process.


Assuntos
Fístula Cutânea/patologia , Úraco/anormalidades , Adenocarcinoma/prevenção & controle , Transformação Celular Neoplásica , Fístula Cutânea/diagnóstico por imagem , Epitélio/patologia , Feminino , Humanos , Lactente , Inflamação , Metaplasia , Ultrassonografia , Úraco/patologia , Úraco/cirurgia , Bexiga Urinária/patologia , Neoplasias da Bexiga Urinária/prevenção & controle
19.
Pediatr Dev Pathol ; 16(5): 372-7, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23688346

RESUMO

A diffuse, infiltrating abdominal mass accompanied with fever and anemia in a child raises the possibility of a benign or malignant tumor, pseudotumor, or infection. Herein, we describe a 9-year-old girl and a 14-year-old boy with multiple large abdominal masses, fever, weight loss, and anemia. During the evaluation of the children, the girl was found to be immunocompetent, while the boy was found to be immunocompromised. Computerized tomography of the abdomen in both cases demonstrated multiple large intra-abdominal masses. Tumors in the girl were composed of wide-spread necrotizing granulomas and necrosis with dystrophic calcifications. In the boy, non-necrotic, homogenous histiocytic infiltrates with rare multinucleated giant cells and lymphocytes were observed histologically. Review of histologic sections identified gram-positive, nonbranching acid-fast bacillary organisms in both cases. Diagnoses of Mycobacterium fortuitum (MF) and Mycobacterium avium-intracellulare complex (MAC) were confirmed by tissue microbiologic cultures in the girl and boy, respectively. The girl with MF infection was appropriately treated and is currently doing well. The boy with MAC was found to have human immunodeficiency virus infection/acquired immune deficiency syndrome (AIDS) and is currently undergoing AIDS treatment. These cases highlight the striking contrast between responses to nontuberculous mycobacteria infection based on immune status.


Assuntos
Infecções por Mycobacterium não Tuberculosas/imunologia , Infecção por Mycobacterium avium-intracellulare/imunologia , Infecção por Mycobacterium avium-intracellulare/patologia , Mycobacterium fortuitum , Síndrome de Imunodeficiência Adquirida/complicações , Adolescente , Criança , Feminino , Humanos , Masculino , Infecções por Mycobacterium não Tuberculosas/patologia , Infecção por Mycobacterium avium-intracellulare/etiologia
20.
Fetal Pediatr Pathol ; 32(5): 319-25, 2013 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-23301918

RESUMO

Osteogenesis imperfecta is a rare connective tissue disorder characterized by bone fragility and low bone density. Most cases are caused by an autosomal dominant mutation in either COL1A1 or COL1A2 gene encoding type I collagen. However, autosomal recessive forms have been identified. We present a patient with severe respiratory distress due to osteogenesis imperfecta simulating type II, born to a non-consanguineous couple with mixed African-American and African-Hispanic ethnicity. Cultured skin fibroblasts demonstrated compound heterozygosity for mutations in the LEPRE1 gene encoding prolyl 3-hydroxylase 1 confirming the diagnosis of autosomal recessive osteogenesis imperfecta type VIII, perinatal lethal type.


Assuntos
Glicoproteínas de Membrana/genética , Osteogênese Imperfeita/genética , Proteoglicanas/genética , Evolução Fatal , Feminino , Genes Recessivos , Heterozigoto , Humanos , Lactente , Recém-Nascido , Osteogênese Imperfeita/complicações , Osteogênese Imperfeita/diagnóstico , Prolil Hidroxilases , Síndrome do Desconforto Respiratório do Recém-Nascido/etiologia , Síndrome do Desconforto Respiratório do Recém-Nascido/genética
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