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Skeletal muscle metastases are uncommon, and metastases of urothelial carcinoma to the skeletal muscle are particularly rare. The most common presentation of skeletal muscle metastases is a focal mass, but their clinical and radiographic findings can be diverse. We present an unusual case of a 71-year-old male without prior known history of malignancy who presented with skeletal muscle pain with imaging most consistent with an inflammatory or infectious process but was ultimately determined to be metastatic urothelial carcinoma from the bladder. This case demonstrates the need to keep an expanded differential for muscular pain, particularly when initial treatments are ineffective.
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BACKGROUND: Immune checkpoint inhibitors are a relatively new advancement in the world of cancer therapy. As such, their adverse effects have yet to be fully understood, with only recent literature documenting autoimmune phenomena secondary to their utilization. Specific immune checkpoint inhibitors have recently been linked with the development of myasthenia gravis, which is classically known to manifest spontaneously in patients. Given the relative rarity of this presentation, the risk of misdiagnosis and subsequent mortality and morbidity is concerning. CASE PRESENTATION: We discuss the case of a 73-year-old male who presented with clinical symptoms of myasthenia gravis and myositis shortly after beginning treatment with Pembrolizumab. The diagnosis of myasthenia gravis was initially missed at an outside hospital, which delayed initiation of proper treatment. CONCLUSION: While the incidence of "de-novo" diseases secondary to immune checkpoint inhibitors might be increasing, guidelines regarding best treatment options do not yet exist, leaving many providers at a loss when faced with making clinical decisions surrounding patients with De novo myasthenia gravis. Thus, our goal is to underscore the importance of early recognition of this disease, and emphasize the need for a standard of care as immune checkpoint inhibitors usage becomes more prevalent.
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Anticuerpos Monoclonales Humanizados , Miastenia Gravis , Miositis , Humanos , Miastenia Gravis/inducido químicamente , Miastenia Gravis/tratamiento farmacológico , Miastenia Gravis/diagnóstico , Masculino , Anciano , Anticuerpos Monoclonales Humanizados/efectos adversos , Anticuerpos Monoclonales Humanizados/uso terapéutico , Miositis/inducido químicamente , Miositis/diagnóstico , Antineoplásicos Inmunológicos/efectos adversos , Antineoplásicos Inmunológicos/uso terapéutico , Inhibidores de Puntos de Control Inmunológico/efectos adversosRESUMEN
Amyotrophic lateral sclerosis (ALS) is a fatal neuromuscular disease that affects individuals of diverse racial and ethnic backgrounds. There is currently no cure for ALS, and the number of efficient disease-modifying drugs for ALS is limited to a few, despite the large number of clinical trials conducted in recent years. The latter could be attributed to the significant heterogeneity of ALS clinical phenotypes even in their familial forms. To address this issue, we conducted postmortem genetic screening of two female patients with sporadic ALS (sALS) and contrasting clinical phenotypes. The results demonstrated that despite their contrasting clinical phenotypes, both patients had rare pathologic/deleterious mutations in five genes: ACSM5, BBS12, HLA-DQB1, MUC20, and OBSCN, with mutations in three of those genes being identical: BBS12, HLA-DQB1, and MUC20. Additional groups of mutated genes linked to ALS, other neurologic disorders, and ALS-related pathologies were also identified. These data are consistent with a hypothesis that an individual could be primed for ALS via mutations in a specific set of genes not directly linked to ALS. The disease could be initiated by a concerted action of several mutated genes linked to ALS and the disease's clinical phenotype will evolve further through accessory gene mutations associated with other neurological disorders and ALS-related pathologies.
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It is estimated that three to five million sports injuries occur worldwide each year. The highest incidence is reported during competition periods with mainly affectation of the musculoskeletal tissue. For appropriate nutritional management and correct use of nutritional supplements, it is important to individualize based on clinical effects and know the adaptive response during the rehabilitation phase after a sports injury in athletes. Therefore, the aim of this PRISMA in Exercise, Rehabilitation, Sport Medicine and Sports Science PERSiST-based systematic integrative review was to perform an update on nutritional strategies during the rehabilitation phase of musculoskeletal injuries in elite athletes. After searching the following databases: PubMed/Medline, Scopus, PEDro, and Google Scholar, a total of 18 studies met the inclusion criteria (Price Index: 66.6%). The risk of bias assessment for randomized controlled trials was performed using the RoB 2.0 tool while review articles were evaluated using the AMSTAR 2.0 items. Based on the main findings of the selected studies, nutritional strategies that benefit the rehabilitation process in injured athletes include balanced energy intake, and a high-protein and carbohydrate-rich diet. Supportive supervision should be provided to avoid low energy availability. The potential of supplementation with collagen, creatine monohydrate, omega-3 (fish oils), and vitamin D requires further research although the effects are quite promising. It is worth noting the lack of clinical research in injured athletes and the higher number of reviews in the last 10 years. After analyzing the current quantitative and non-quantitative evidence, we encourage researchers to conduct further clinical research studies evaluating doses of the discussed nutrients during the rehabilitation process to confirm findings, but also follow international guidelines at the time to review scientific literature.
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Traumatismos en Atletas , Deportes , Humanos , Deportes/fisiología , Atletas , Suplementos Dietéticos , Ejercicio Físico/fisiologíaRESUMEN
Soldiers in active military service need optimal physical fitness for successfully carrying out their operations. Therefore, their health status is regularly checked by army doctors. These inspections include physical parameters such as the body-mass index (BMI), functional tests, and biochemical studies. If a medical exam reveals an individual's excess weight, further examinations are made, and corrective actions for weight lowering are initiated. The collection of urine is non-invasive and therefore attractive for frequent metabolic screening. We compared the chemical profiles of urinary samples of 146 normal weight, excess weight, and obese soldiers of the Mexican Army, using untargeted metabolomics with liquid chromatography coupled to high-resolution mass spectrometry (LC-MS). In combination with data mining, statistical and metabolic pathway analyses suggest increased S-adenosyl-L-methionine (SAM) levels and changes of amino acid metabolites as important variables for overfeeding. We will use these potential biomarkers for the ongoing metabolic monitoring of soldiers in active service. In addition, after validation of our results, we will develop biochemical screening tests that are also suitable for civil applications.
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Personal Militar , Sobrepeso , Humanos , Sobrepeso/diagnóstico , Obesidad/diagnóstico , Metabolómica/métodos , Índice de Masa Corporal , Aumento de PesoRESUMEN
Two years into the COVID-19 pandemic, there are few published accounts of postmortem SARS-CoV-2 pathology in children. We report 8 such cases (4 infants aged 7-36 weeks, 4 children aged 5-15 years). Four underwent ex vivo magnetic resonance neuroimaging, to assist in identification of subtle lesions related to vascular compromise. All infants were found unresponsive (3 in unsafe sleeping conditions); all but 1 had recent rhinitis and/or influenza-like illness (ILI) in the family; 1 had history of sickle cell disease. Ex vivo neuroimaging in 1 case revealed white matter (WM) signal hyperintensity and diffuse exaggeration of perivascular spaces, corresponding microscopically to WM mineralization. Neurohistology in the remaining 3 infants variably encompassed WM gliosis and mineralization; brainstem gliosis; perivascular vacuolization; perivascular lymphocytes and brainstem microglia. One had ectopic hippocampal neurons (with pathogenic variant in DEPDC5). Among the children, 3 had underlying conditions (e.g., obesity, metabolic disease, autism) and all presented with ILI. Three had laboratory testing suggesting multisystem inflammatory syndrome (MIS-C). Two were hospitalized for critical care including mechanical ventilation and extracorporeal membrane oxygenation (ECMO); one (co-infected with adenovirus) developed right carotid stroke ipsilateral to the ECMO cannula and the other required surgery for an ingested foreign body. Autopsy findings included: acute lung injury in 3 (1 with microthrombi); and one each with diabetic ketoacidosis and cardiac hypertrophy; coronary and cerebral arteritis and aortitis, resembling Kawasaki disease; and neuronal storage and enlarged fatty liver. All 4 children had subtle meningoencephalitis, focally involving the brainstem. On ex vivo neuroimaging, 1 had focal pontine susceptibility with corresponding perivascular inflammation/expanded perivascular spaces on histopathology. Results suggest SARS-CoV-2 in infants may present as sudden unexpected infant death, while in older children, signs and symptoms point to severe disease. Underlying conditions may predispose to fatal outcomes. As in adults, the neuropathologic changes may be subtle, with vascular changes such as perivascular vacuolization and gliosis alongside sparse perivascular lymphocytes. Detection of subtle vascular pathology is enhanced by ex vivo neuroimaging. Additional analysis of the peripheral/autonomic nervous system and investigation of co-infection in children with COVID-19 is necessary to understand risk for cardiovascular collapse/sudden death.
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Subependymal giant cell astrocytoma (SEGA) is the characteristic benign, slow-growing brain tumor seen in tuberous sclerosis (TS). There are several case reports of a diagnosis of SEGA in patients with no clinical or radiological diagnosis of TS. However, there is limited literature describing the tumor genetics in such cases. We report a case of a 17-year-old girl who was diagnosed with SEGA bearing the TSC2 mutation, while testing negative for TSC mutations on germline testing. We also did a literature review of studies that reported the genetics behind solitary SEGAs. Genetic testing of both the tumor itself and germline genetic testing can provide valuable information with clinical implications, for example, the basis for the need of close surveillance in TS patients.
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Astrocitoma , Neoplasias Encefálicas , Esclerosis Tuberosa , Adolescente , Astrocitoma/diagnóstico , Astrocitoma/genética , Neoplasias Encefálicas/diagnóstico , Neoplasias Encefálicas/genética , Femenino , Humanos , Mutación , Esclerosis Tuberosa/diagnóstico , Esclerosis Tuberosa/genética , Proteína 2 del Complejo de la Esclerosis Tuberosa/genéticaRESUMEN
L1syndrome is an X-linked disorder manifesting with congenital hydrocephalus, adducted thumbs and spasticity. There are rare cases of L1 syndrome and coincident Hirschsprung disease, with mutations in the L1CAM gene thought to underlie both. We present a novel pathogenic L1CAM variant in someone with L1 syndrome and Hirschsprung disease.
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BACKGROUND: Multifocal rosette-forming glioneuronal tumors (RGNTs) are challenging to manage. Gross total resection is often impossible, and data on adjunctive therapies are limited. We reviewed cases of multifocal RGNTs in the literature with special focus on dissemination patterns and management. METHODS: A literature review was conducted using PubMed and the key words "(multifocal OR multicentric OR satellite OR dissemination) AND glioneuronal." RESULTS: There were 21 cases of multifocal RGNTs identified. Follow-up was available in 18 cases at a median of 17 months. Progression-free survival and overall survival at 1 year were 84% and 94%, respectively. Of all cases, 43% had cerebrospinal fluid (CSF) dissemination, 48% had intraparenchymal spread, and 10% had both. The presence of CSF dissemination led to palliative care and/or death in 20% of cases (n = 2). None of the cases with intraparenchymal spread progressed. Radiotherapy was used in 50% of cases with CSF dissemination, chemotherapy was used in 20%, and CSF shunting was used in 36%. No tumors with intraparenchymal spread required adjunctive therapy or shunting. CONCLUSIONS: RGNTs with CSF dissemination are more likely to behave aggressively, and early adjunctive therapies should be discussed with patients. Tumors with intraparenchymal spread grow slowly, and maximal safe resection followed by observation is likely sufficient in the short term. Long-term behavior of multifocal RGNTs is still unclear.
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Neoplasias del Ventrículo Cerebral/diagnóstico por imagen , Neoplasias del Ventrículo Cerebral/terapia , Manejo de la Enfermedad , Cuarto Ventrículo/diagnóstico por imagen , Formación de Roseta/tendencias , Biomarcadores/líquido cefalorraquídeo , Neoplasias del Ventrículo Cerebral/líquido cefalorraquídeo , Cuarto Ventrículo/cirugía , Ganglioglioma/líquido cefalorraquídeo , Ganglioglioma/diagnóstico por imagen , Ganglioglioma/terapia , HumanosRESUMEN
Infantile globoid cell leukodystrophy (GLD, Krabbe disease) is a demyelinating disease caused by the deficiency of the lysosomal enzyme galactosylceramidase (GALC) and the progressive accumulation of the toxic metabolite psychosine. We showed previously that central nervous system (CNS)-directed, adeno-associated virus (AAV)2/5-mediated gene therapy synergized with bone marrow transplantation and substrate reduction therapy (SRT) to greatly increase therapeutic efficacy in the murine model of Krabbe disease (Twitcher). However, motor deficits remained largely refractory to treatment. In the current study, we replaced AAV2/5 with an AAV2/9 vector. This single change significantly improved several endpoints primarily associated with motor function. However, nearly all (14/16) of the combination-treated Twitcher mice and all (19/19) of the combination-treated wild-type mice developed hepatocellular carcinoma (HCC). 10 out of 10 tumors analyzed had AAV integrations within the Rian locus. Several animals had additional integrations within or near genes that regulate cell growth or death, are known or potential tumor suppressors, or are associated with poor prognosis in human HCC. Finally, the substrate reduction drug L-cycloserine significantly decreased the level of the pro-apoptotic ceramide 18:0. These data demonstrate the value of AAV-based combination therapy for Krabbe disease. However, they also suggest that other therapies or co-morbidities must be taken into account before AAV-mediated gene therapy is considered for human therapeutic trials.
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Dependovirus/genética , Terapia Genética/efectos adversos , Vectores Genéticos/genética , Leucodistrofia de Células Globoides/complicaciones , Leucodistrofia de Células Globoides/terapia , Animales , Trasplante de Médula Ósea/métodos , Carcinoma Hepatocelular/etiología , Terapia Combinada , Modelos Animales de Enfermedad , Terapia Genética/métodos , Vectores Genéticos/administración & dosificación , Neoplasias Hepáticas/etiología , RatonesRESUMEN
Recent studies have shown that psychiatric symptoms might be the only primary manifestation of central nervous system malignancy. As a result, clinicians might overlook a brain tumor diagnosis due to overlying psychiatric symptoms. We herein describe an adolescent female patient without tuberous sclerosis clinical features whose primary presentation for a subependymal giant-cell astrocytoma was restrictive eating disorder, urinary incontinence, and depression. The behavioral symptoms improved significantly following tumor resection. This case illustrates that compression of the frontal lobes and hypothalamus can manifest as primary psychiatric symptoms of subacutely manifested anhedonia, appetite loss, low energy, flat affect, and depressive mood. An absence of tuberous sclerosis clinical features should not preclude a diagnosis of subependymal giant-cell astrocytoma. Clinicians should maintain an index of suspicion for a brain tumor in patients with sudden-onset restrictive eating disorder and depression.
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Based on a literature review and our database, we report on the smallest 14q deletion identified in a brain tumor characterized by 1p/19q codeletion low-grade oligodendroglioma. In 2013, array-comparative genomic hybridization of the brain tumor revealed 1p/19q codeletion as a sole abnormality. In 2019, the patient relapsed showing additional abnormalities including a 14q deletion of 16.5 Mb at 14q24.2q31.3. This region overlaps with 2 previously identified minimal regions, 14q21.2q24.3 and 14q31.3q32.1, based on 142 cases of glioma. The authors reported no correlation between these 2 regions and survival. By extracting these 2 regions from our patient's deletion and comparing it to 12 other cases of 1p/19q codeletion oligodendrogliomas reported in the literature, we narrowed down the 14q loss possible critical region to 5.6 Mb mapping at 14q31.1q31.2. This region contains 2 potential relapse-related genes: SEL1L and STON2.
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Proteínas Adaptadoras del Transporte Vesicular/genética , Deleción Cromosómica , Cromosomas Humanos Par 14/genética , Cromosomas Humanos Par 19/genética , Cromosomas Humanos Par 1/genética , Recurrencia Local de Neoplasia/genética , Oligodendroglioma/genética , Proteínas/genética , Femenino , Humanos , Persona de Mediana Edad , Recurrencia , Estudios RetrospectivosRESUMEN
Salinity is one of the most important factors that limit the productivity of agricultural soils. Certain plant growth-promoting bacteria (PGPB) have the ability to stimulate the growth of crop plants even under salt stress. In the present study, we analysed the potential of PGPB Bacillus toyonensis COPE52 to improve the growth of tomato plants and its capacity to modify its membrane lipid and fatty acid composition under salt stress. Thus, strain COPE52 increased the relative amount of branched chain fatty acids (15:0i and 16:1∆9) and accumulation of an unknown membrane lipid, while phosphatidylethanolamine (PE) levels decreased during growth with 100 and 200 mM NaCl. Importantly, direct and indirect plant growth-promoting (PGP) mechanisms of B. toyonensis COPE52, such as indole-3-acetic acid (IAA), protease activity, biofilm formation, and antifungal activity against Botrytis cinerea, remained unchanged in the presence of NaCl in vitro, compared to controls without salt. In a greenhouse experiment, tomato plants (Lycopersicon esculentum 'Saladette') showed increased shoot and root length, higher dry biomass, and chlorophyll content when inoculated with B. toyonensis COPE52 at 0 and 100 mM NaCl. In summary, these results indicate that Bacillus toyonensis COPE52 can modify cell membrane lipid components as a potential protecting mechanism to maintain PGP traits under saline-soil conditions.
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Solanum lycopersicum , Antifúngicos/farmacología , Bacillus , Botrytis , Ácidos GrasosRESUMEN
A 26-year-old woman presented for a routine contact lens evaluation but was found to have a subtle right sixth nerve paresis and adducting nystagmus of the left eye. She reported horizontal diplopia on far right gaze as well as subjective right-sided weakness and poor balance for 1 year. Brain and spinal MRI revealed multiple cystic lesions with variable enhancement throughout the posterior fossa and cervical spinal cord. These MRI findings were highly suspicious for an infectious central nervous system process, such as neurocysticercosis; however, primary or metastatic tumors were also important considerations. Tumor location and imaging characteristics were most helpful in differentiating among these etiologies. A brain biopsy ultimately established the diagnosis of a rosette-forming glioneuronal tumor.
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Neoplasias Encefálicas/complicaciones , Encéfalo/patología , Diplopía/etiología , Imagen por Resonancia Magnética/métodos , Nistagmo Patológico/etiología , Teratoma/complicaciones , Adulto , Biopsia , Neoplasias Encefálicas/diagnóstico , Diagnóstico Diferencial , Diplopía/diagnóstico , Femenino , Humanos , Nistagmo Patológico/diagnóstico , Teratoma/diagnósticoRESUMEN
Immune response to therapeutic enzymes poses a detriment to patient safety and treatment outcome. Enzyme replacement therapy (ERT) is a standard therapeutic option for some types of mucopolysaccharidoses, including Morquio A syndrome caused by N-acetylgalactosamine-6-sulfate sulfatase (GALNS) deficiency. Current protocols tolerize patients using cytotoxic immunosuppressives, which can cause adverse effects. Here we show development of tolerance in Morquio A mice via oral delivery of peptide or GALNS for 10 days prior to ERT. Our results show that using an immunodominant peptide (I10) or the complete GALNS enzyme to orally induce tolerance to GALNS prior to ERT resulted in several improvements to ERT in mice: (a) decreased splenocyte proliferation after in vitro GALNS stimulation, (b) modulation of the cytokine secretion profile, (c) decrease in GALNS-specific IgG or IgE in plasma, (d) decreased GAG storage in liver, and (e) fewer circulating immune complexes in plasma. This model could be extrapolated to other lysosomal storage disorders in which immune response hinders ERT.
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Condroitinsulfatasas/uso terapéutico , Desensibilización Inmunológica , Terapia de Reemplazo Enzimático , Tolerancia Inmunológica/efectos de los fármacos , Mucopolisacaridosis IV , Péptidos/farmacología , Administración Oral , Animales , Células CHO , Condroitinsulfatasas/inmunología , Cricetulus , Citocinas/inmunología , Humanos , Tolerancia Inmunológica/genética , Inmunoglobulina E/inmunología , Inmunoglobulina G/inmunología , Ratones , Ratones Noqueados , Mucopolisacaridosis IV/inmunología , Mucopolisacaridosis IV/terapia , Péptidos/inmunologíaRESUMEN
Lipoblastoma is a rare benign neoplasm with overlapping histology with other lipomatous tumors. Genetic aberrations including translocations of 8q and splitting of the PLAG1 probe leading to "promoter swapping" and gains of chromosome 8 or PLAG1 foci have been described in lipoblastoma. Here, we report 3 lipoblastomas revealing novel genetic aberrations involving PLAG1: a high level of PLAG1 amplification up to 50 copies in a 4-year-old girl with recurrence of a right flank mass, a partial deletion of PLAG1 with the flanking junction breakpoints involving the 3'PLAG1 and 5'HAS2 genes in a 17-month-old boy with a retroperitoneal mass, and an insertion of 2q31 into 8q11.2 and translocation of 8q to 2q with the latter translocated onto 12q leading to separation of the PLAG1 FISH probe in a 5-year-old girl with a left back mass. Our novel cytogenetic findings further expand the mechanisms of PLAG1 transcriptional upregulation in lipoblastoma pathogenesis.
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Proteínas de Unión al ADN/genética , Lipoblastoma/genética , Preescolar , Aberraciones Cromosómicas , Cromosomas Humanos Par 8/genética , Análisis Citogenético/métodos , Femenino , Humanos , Lactante , Masculino , Translocación Genética/genéticaRESUMEN
Infantile globoid cell leukodystrophy (GLD, Krabbe disease) is a fatal demyelinating disorder caused by a deficiency in the lysosomal enzyme galactosylceramidase (GALC). GALC deficiency leads to the accumulation of the cytotoxic glycolipid, galactosylsphingosine (psychosine). Complementary evidence suggested that psychosine is synthesized via an anabolic pathway. Here, we show instead that psychosine is generated catabolically through the deacylation of galactosylceramide by acid ceramidase (ACDase). This reaction uncouples GALC deficiency from psychosine accumulation, allowing us to test the long-standing "psychosine hypothesis." We demonstrate that genetic loss of ACDase activity (Farber disease) in the GALC-deficient mouse model of human GLD (twitcher) eliminates psychosine accumulation and cures GLD. These data suggest that ACDase could be a target for substrate reduction therapy (SRT) in Krabbe patients. We show that pharmacological inhibition of ACDase activity with carmofur significantly decreases psychosine accumulation in cells from a Krabbe patient and prolongs the life span of the twitcher (Twi) mouse. Previous SRT experiments in the Twi mouse utilized l-cycloserine, which inhibits an enzyme several steps upstream of psychosine synthesis, thus altering the balance of other important lipids. Drugs that directly inhibit ACDase may have a more acceptable safety profile due to their mechanistic proximity to psychosine biogenesis. In total, these data clarify our understanding of psychosine synthesis, confirm the long-held psychosine hypothesis, and provide the impetus to discover safe and effective inhibitors of ACDase to treat Krabbe disease.
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Ceramidasa Ácida/genética , Eliminación de Gen , Leucodistrofia de Células Globoides/genética , Leucodistrofia de Células Globoides/metabolismo , Psicosina/metabolismo , Animales , Línea Celular Tumoral , Citocinas/metabolismo , Metilación de ADN , Modelos Animales de Enfermedad , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Humanos , Leucodistrofia de Células Globoides/tratamiento farmacológicoRESUMEN
BACKGROUND: While liver biopsy remains the gold standard, given the procedure risks and sampling errors, there is a need for reliable noninvasive biomarkers of hepatic fibrosis. OBJECTIVE: Determine the accuracy of two-dimensional shear wave elastography (2-D SWE) in predicting the histological severity of liver fibrosis in pediatric patients with known or suspected liver disease. MATERIALS AND METHODS: Subjects 0-18 years old with known or suspected liver disease and liver biopsy within 30 days (n=70) were included. Comparisons by 2-D SWE were made to a control group (n=79). Two-dimensional SWE was performed using the GE LOGIQ E9 system. Liver biopsy specimens were scored according to METAVIR and Ishak scoring systems using Spearman's Rho correlation. Receiver operator characteristic (ROC) analysis, Kruskal-Wallis and Mann-Whitney U tests were conducted. RESULTS: Control group median 2-D SWE measurements were lower than in subjects with any degree of liver fibrosis (P<0.001). Those with METAVIR F0 and Ishak 0 scores had significantly lower median 2-D SWE measurements (1.35 m/s; 1.36 m/s) than those with more advanced liver disease (F1-F3: 1.49-1.62 m/s; 1-4: 1.45-1.63 m/s) (P<0.05 for all), whereas the 2-D SWE in the higher scores were similar. Results did not differ between METAVIR and Ishak scores for any degree of fibrosis. Fibrosis scores moderately correlated with median 2-D SWE measurements (rs=0.43). The area under the curve for F1 compared to combined control/F0 was 0.89 (95% confidence interval [CI] 0.83-0.95; P<0.001) with sensitivity of 94.6% and specificity of 78.6%. Results for Ishak score 1 were similar. The ideal cutoff value for identifying fibrosis was determined to be 1.29 m/s. CONCLUSION: The liver 2-D SWE measurements correlated with the histological liver fibrosis scores, regardless of the histopathological scoring system, although 2-D SWE was better at identifying patients with early fibrosis, not at distinguishing among the individual fibrosis levels. Two-dimensional SWE using the GE LOGIQ US system is useful for identifying pediatric patients at risk for liver fibrosis.
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Diagnóstico por Imagen de Elasticidad/métodos , Cirrosis Hepática/diagnóstico por imagen , Cirrosis Hepática/patología , Hepatopatías/diagnóstico por imagen , Hepatopatías/patología , Adolescente , Biopsia con Aguja , Estudios de Casos y Controles , Niño , Preescolar , Intervalos de Confianza , Femenino , Humanos , Inmunohistoquímica , Valor Predictivo de las Pruebas , Pronóstico , Curva ROC , Valores de Referencia , Estudios Retrospectivos , Medición de Riesgo , Índice de Severidad de la Enfermedad , Estadísticas no ParamétricasRESUMEN
CONTEXT.: Familial adenomatous polyposis (FAP) is a rare genetic disorder with autosomal dominant inheritance, defined by numerous adenomatous polyps, which inevitably progress to colorectal carcinoma unless detected and managed early. Greater than 70% of patients with this syndrome also develop extraintestinal manifestations, such as multiple osteomas, dental abnormalities, and a variety of other lesions located throughout the body. These manifestations have historically been subcategorized as Gardner syndrome, Turcot syndrome, or gastric adenocarcinoma and proximal polyposis of the stomach. Recent studies, however, correlate the severity of gastrointestinal disease and the prominence of extraintestinal findings to specific mutations within the adenomatous polyposis coli gene (APC), supporting a spectrum of disease as opposed to subcategorization. Advances in immunohistochemical and molecular techniques shed new light on the origin, classification, and progression risk of different entities associated with FAP. OBJECTIVE.: To provide a comprehensive clinicopathologic review of neoplastic and nonneoplastic entities associated with FAP syndrome, with emphasis on recent developments in immunohistochemical and molecular profiles of extraintestinal manifestations in the thyroid, skin, soft tissue, bone, central nervous system, liver, and pancreas, and the subsequent changes in classification schemes and risk stratification. DATA SOURCES.: This review will be based on peer-reviewed literature and the authors' experiences. CONCLUSIONS.: In this review we will provide an update on the clinicopathologic manifestations, immunohistochemical profiles, molecular features, and prognosis of entities seen in FAP, with a focus on routine recognition and appropriate workup of extraintestinal manifestations.
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Proteína de la Poliposis Adenomatosa del Colon/genética , Poliposis Adenomatosa del Colon/patología , Neoplasias Encefálicas/etiología , Neoplasias Colorrectales/etiología , Síndrome de Gardner/etiología , Síndromes Neoplásicos Hereditarios/etiología , Poliposis Adenomatosa del Colon/diagnóstico , Poliposis Adenomatosa del Colon/genética , Humanos , Inmunohistoquímica , Mutación , Pronóstico , Piel/patologíaRESUMEN
BACKGROUND: Mature ovarian teratomas are common in children. These well differentiated tumors are typically confined to the ovary. In rare cases, they can rupture leading to granulomatous peritonitis that mimics carcinomatosis. Ovarian tumors with peritoneal/omental implants suggest malignant pathology with a different prognosis. CASE: A 15-year-old girl presented with 5 months of abdominal pain, and weight loss. Computed tomography (CT) imaging of the abdomen revealed a large mass filling the abdomen. Slightly elevated lactate dehydrogenase (LDH) and carcinoma antigen 125 (CA125). On laparotomy an ovarian tumor with peritoneal and omental implants was identified. Left salpingo-oophorectomy, omentectomy, and peritoneal washing were performed. Pathology revealed a benign cystic teratoma. SUMMARY AND CONCLUSION: Although ovarian teratomas are typically benign, they might mimic carcinomatosis. In patients with unexpected finding of peritoneal implants, histologic diagnosis is recommended before proceeding with a full oncologic ovarian resection.