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The trophoblast cells are responsible for the transfer of nutrients between the mother and the foetus and play a major role in placental endocrine function by producing and releasing large amounts of hormones and growth factors. Syncytiotrophoblast cells (STB), formed by the fusion of mononuclear cytotrophoblasts (CTB), constitute the interface between the foetus and the mother and are essential for all of these functions. We performed transcriptome analysis of human placental samples from two control groups-live births (LB), and stillbirths (SB) with a clinically recognised cause-and from our study group, idiopathic stillbirths (iSB). We identified 1172 DEGs in iSB, when comparing with the LB group; however, when we compared iSB with the SB group, only 15 and 12 genes were down- and upregulated in iSB, respectively. An assessment of these DEGs identified 15 commonly downregulated genes in iSB. Among these, several syncytiotrophoblast markers, like genes from the PSG and CSH families, as well as ALPP, KISS1, and CRH, were significantly downregulated in placental samples from iSB. The transcriptome analysis revealed underlying differences at a molecular level involving the syncytiotrophoblast. This suggests that defects in the syncytial layer may underlie unexplained stillbirths, therefore offering insights to improve clinical obstetrics practice.
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Biomarcadores , Regulación hacia Abajo , Placenta , Mortinato , Trofoblastos , Humanos , Femenino , Trofoblastos/metabolismo , Trofoblastos/patología , Embarazo , Placenta/metabolismo , Mortinato/genética , Biomarcadores/metabolismo , Perfilación de la Expresión Génica , TranscriptomaRESUMEN
INTRODUCTION: Coronavirus disease 2019 was declared as a pandemic on March 2020. Research on its psychological effects is still lacking. Perinatal depression is a medical complication of pregnancy, especially in situations of stress. In this study, we aimed to investigate the presence of symptoms of depression in pregnant women during the lockdown period in Portugal. METHODS: This study consisted in a cross-sectional study among Portuguese pregnant women, who completed an online self-report questionnaire between 25th April and 30th April 2020. An anonymous online questionnaire was developed to assess depression and concerns related to COVID-19. This study was approved by the IRB of Hospital Dona Estefânia and performed in accordance with the ethical standards laid down in the 1964 Declaration of Helsinki. Eligibility criteria included pregnant women, ≥ 18 years and living in Portugal. The primary outcome was to evaluate the presence of depressive symptoms and its association to socio-demographic characteristics and to concerns related to COVID-19. RESULTS: A total of 1698 pregnant women were enrolled. The mean age was 31.9 years. 82.4% felt a negative impact of the pandemic in the surveillance of pregnancy and 43% felt insufficient support. 26.3% showed "possible depression" according to the EPDS. A regression analysis revealed the possibility of depression increased as the concerns about COVID increased and was lower for women with support. The possibility of depression was higher for women with psychiatric medical history. CONCLUSION: This study demonstrated a significant increase in clinically significant depressive symptoms in pregnant women during the lockdown. It also revealed some of the socio-demographic characteristics of women at risk for depression. If left untreated, depression tends to persist, affecting the woman and also the child. Our findings suggest that COVID-19 represents a serious challenge for this population and reinforce the urgent need for early detection and intervention on mental health issues during pregnancy, especially during the pandemic.
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COVID-19 , Adulto , Ansiedad/epidemiología , COVID-19/epidemiología , Niño , Control de Enfermedades Transmisibles , Estudios Transversales , Depresión/diagnóstico , Femenino , Humanos , Portugal/epidemiología , Embarazo , Mujeres Embarazadas/psicología , SARS-CoV-2 , Estrés Psicológico/epidemiologíaRESUMEN
Eucalyptus globulus subsp. globulus Labill. (Tasmanian Blue Gum), native to southeast Australia, is a benchmark species for the pulp and paper industry. We genotyped 397 trees from 16 populations of E. globulus representing the native diversity in Australia using 24 microsatellite loci. Eight genetically distinct groups were detected, consistent with genetic groupings detected in previous quantitative and molecular studies. A sample of 29 Portuguese individuals was added to help clarify the origin of the Portuguese landrace. The results suggest a southern and eastern Tasmania origin for the Portuguese landrace. This genetic framework will enable researchers to investigate the provenance of individuals of unknown pedigree and assess the levels of representation of E. globulus natural variation in the Portuguese landrace.
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Eucalyptus/genética , Repeticiones de Microsatélite , ADN de Plantas , Estructuras Genéticas , Variación Genética , Genética de Población , GenotipoRESUMEN
Objectives: To present results for the use of an automated microfoam preparation system (AMPS) in the treatment of varicose veins in a real-world setting.Method: We performed a descriptive study based on a prospective database of patients treated with foam sclerotherapy between February 2021 and December 2022. Polidocanol foam was prepared using a capsule containing sterile air or a low-nitrogen mix. We recorded volume per session, percentage of sclerosing drug, number of sessions, release of thrombus entrapment, complications, and adverse events. A univariate descriptive analysis was performed using Stata V.16.Results: Over a 23-month period, 185 patients (84.9% women, 15.1% men) underwent 685 sessions. Median age was 51.6 years (range, 16-79 years). Thread veins were the condition treated in 68.9% of sessions, tributaries in 7.2%, and truncal veins in 22.6%. The average volume per session was as follows: thread veins, 8 mL; great saphenous vein (GSV), 6.9 mL; and small saphenous vein (SSV), 4.3 mL. The average drug concentration was as follows: thread veins, 0.18%; GSV, 1.49%; and SSV, 1.63%. The average number of sessions was 3.4 for thread veins, 2 for tributaries, 2.7 for the GSV, and 2.9 for the SSV. The occlusion rate at 15 months was 93.2% (41/43) for the great saphenous vein and 86% (13/15) for the small saphenous vein. We recorded a total of 21 complications (3.1% of sessions), 14 of which were minor complications (2% sessions), and 7 moderate adverse events (1% of sessions).Conclusions: This new device is highly versatile and can be used for preparing foam at all concentrations. It contributes to a high rate of occlusion in saphenous trunks, with a minimal number of sessions required for thread veins indicating that the system is a favorable option in the treatment of venous diseases. Additionally, the low frequency of residual pigmentation may be attributed to the system's ability to tailor the foam concentration to the individual case, thus supporting optimal outcomes.
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The potential of using organisms as bioindicators of marine litter has been an area of general interest in multiple scientific and monitoring programs across the globe. Procellariiformes seabirds are particularly vulnerable to plastic contamination, which makes them a research focus group. This study investigated plastic ingestion in deceased fledglings and adults Cory's shearwaters (Calonectris borealis) collected over eight years (2015 to 2022) at two Atlantic archipelagos: the Azores and the Canaries. Necropsies were carried out in a total of 1,238 individuals showing a high prevalence of plastic ingestion (90%), with approximately 80% of items recovered from the gizzard. Fledglings carried greater plastic loads compared to adults, yet plastic morphologies were similar between both age classes. The temporal analyses conducted with generalised additive mixed-effect models revealed a distinct temporal trend in plastic numbers, but not in terms of plastic mass. In addition, the spatial analyses showed that Cory's shearwaters from the Canary Islands ingest a higher quantity of plastic and a greater proportion of threadlike items than the Azorean birds. These results suggest higher contamination at the NW Africa foraging grounds next to the Canaries and highlight fisheries as a potential source of marine litter in that region. On the other hand, the information gathered from the Azorean birds suggests they would be able to monitor changes in the composition of the plastic items floating in the North Atlantic Subtropical Gyre. Overall, our outcomes support the use of Cory's shearwater fledglings that are victims of light pollution as a key bioindicator of plastic contamination in the North Atlantic. For its policy application, the presented threshold value in combination with the assessment method will enable effective tracking of floating plastic litter in the framework of the MSFD and OSPAR.
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Aves , Monitoreo del Ambiente , Plásticos , Animales , Plásticos/análisis , Monitoreo del Ambiente/métodos , Contaminantes Químicos del Agua/análisis , AzoresRESUMEN
We describe a case of a 17-year-old girl with a mediastinal large B-cell lymphoma with IRF4 rearrangement (LBCL-IRF4r) with an atypical clinical presentation in an unusual location, diagnosed by fine needle biopsy, flow cytometry and FISH. We review the literature and discuss the differential diagnosis, clinical presentation, cytological and immunophenotypical characteristics of this unique case that raises very interesting questions regarding this new entity.
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Prostate cancer ranks as the second most frequently diagnosed cancer globally among men and stands as the fifth leading cause of cancer-related death in males. Hence, an early and precise diagnosis and staging are critical. Traditional staging is based on clinical nomograms but presents a lower performance than prostate multiparametric magnetic resonance imaging (mpMRI). Since tumor staging serves as the basis for risk stratification, prognosis, and treatment decision-making, the primary objective of mpMRI is to distinguish between organ-confined and locally advanced diseases. Therefore, this imaging modality has emerged as the optimal selection for the local staging of prostate cancer, offering incremental value in evaluating pelvic nodal disease and bone involvement, and supplying supplementary insights regarding the precise location and disease extension. As per the Prostate Imaging Reporting & Data System v2.1 guideline, a comprehensive and accurate mpMRI requires several key sequences, which include T1-weighted imaging (T1WI) and T2-weighted imaging (T2WI) for morphological assessment, with T2WI serving as the cornerstone for local staging. Additionally, diffusion-weighted imaging (DWI) and dynamic sequences acquired with intravenous administration of paramagnetic contrast medium (DCE) are crucial components. It is worth noting that while MRI exhibits high specificity, its sensitivity in diagnosing extracapsular extension, seminal vesicle invasion, and lymph node metastases is limited. Moreover, mpMRI has its own constraints and is not as effective in detecting distant metastases or evaluating lymph nodes, for which extended pelvic lymph node dissection remains the gold standard. This review aims to highlight the significance of mpMRI in prostate cancer staging and provide a practical approach to assessing extracapsular extension, seminal vesicle invasions, and the involvement of adjacent organs and lymph nodes.
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Racemose neurocysticercosis is an uncommon type of neurocysticercosis that represents a particularly aggressive infection. It is characterized by the presence of multiple confluent cysts within the subarachnoid space and it carries unique diagnostic challenges. Clinical manifestations include headache, cerebrovascular events, and life-threatening hydrocephalus. A 56-year-old female presented with sudden onset headache and right-sided hemisensory loss. Brain MRI revealed multiple cystic lesions in the subarachnoid space consistent with racemose neurocysticercosis and left thalamus acute lacunar infarct. This case report emphasizes the clinical importance, unique characteristics, and imaging features of racemose neurocysticercosis and its complications.
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Overall gastric cancer incidence is decreasing, but incidence of gastric signet ring cell carcinoma has been rising. The diagnosis can be challenging. It has a poorer prognosis because it tends to be diagnosed at advanced stages. Lymphedema is a rare presentation. We report a rare presentation of signet ring cell carcinoma in a 49-year old male, with no underlying medical condition. The patient presented with lymphedema of lower limbs, scrotum and abdominal wall. LEARNING POINTS: Signet ring cell carcinoma tends to have an infiltrative behavior. Endoscopic analysis may not lead to any macroscopic finding.In highly suspicious cases, endoscopic exploration should be complemented with an endoscopic ultrasound or blind random biopsies.
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Metabolic myopathies are a diverse group of rare genetic disorders associated with recurrent episodes of rhabdomyolysis, induced by triggers such as fever or exercise. In these disorders, the energetic metabolism is compromised resulting in damage of the muscle cells. The diagnosis can be challenging but is essential for the correct treatment. Carnitine palmitoytransferase II (CPT-II) deficiency is the most common long-chain fatty acid oxidation defect, with the adulthood form requiring additional external triggers. The authors present a case of a young-male adult with recurrent episodes of rhabdomyolysis, one of them presented with acute renal failure and acute hepatitis. The diagnostic is demanding, which requires a high level of suspicion. The adequate treatment of these patients improves the muscle function and prevents other episodes of severe rhabdomyolysis.
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Central nervous system (CNS) infections and autoimmune inflammatory disorders are often associated with retention of antibody-secreting cells (ASC). Although beneficial or detrimental contributions of ASC to CNS diseases remain to be defined, virus-specific ASC are crucial in controlling persistent CNS infection following coronavirus-induced encephalomyelitis. This report characterizes expression kinetics of factors associated with ASC homing, differentiation, and survival in the spinal cord, the prominent site of coronavirus persistence. Infection induced a vast, gamma interferon (IFN-γ)-dependent, prolonged increase in chemokine (C-X-C motif) ligand 9 (CXCL9), CXCL10, and CXCL11 mRNA, supporting a role for chemokine (C-X-C motif) receptor 3 (CXCR3)-mediated ASC recruitment. Similarly, CD4 T cell-secreted interleukin-21, a critical regulator of both peripheral activated B cells and CD8 T cells, was sustained during viral persistence. The ASC survival factors B cell-activating factor of the tumor necrosis factor (TNF) family (BAFF) and a proliferating-inducing ligand (APRIL) were also significantly elevated in the infected CNS, albeit delayed relative to the chemokines. Unlike IFN-γ-dependent BAFF upregulation, APRIL induction was IFN-γ independent. Moreover, both APRIL and BAFF were predominantly localized to astrocytes. Last, the expression kinetics of the APRIL and BAFF receptors coincided with CNS accumulation of ASC. Therefore, the factors associated with ASC migration, differentiation, and survival are all induced during acute viral encephalomyelitis, prior to ASC accumulation in the CNS. Importantly, the CNS expression kinetics implicate rapid establishment, and subsequent maintenance, of an environment capable of supporting differentiation and survival of protective antiviral ASC, recruited as plasmablasts from lymphoid organs.
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Anticuerpos Antivirales/inmunología , Infecciones por Coronavirus/inmunología , Encefalomielitis/virología , Animales , Células Presentadoras de Antígenos/inmunología , Coronavirus/inmunología , Citocinas/metabolismo , Ratones , Ratones Endogámicos C57BL , Médula Espinal/inmunología , Médula Espinal/virologíaRESUMEN
Immunoglobulin in cerebral spinal fluid and antibody secreting cells (ASC) within the central nervous system (CNS) parenchyma are common hallmarks of microbial infections and autoimmune disorders. However, the signals directing ASC migration into the inflamed CNS are poorly characterized. This study demonstrates that CXCR3 mediates CNS accumulation of ASC during neurotropic coronavirus-induced encephalomyelitis. Expansion of CXCR3-expressing ASC in draining lymph nodes prior to accumulation within the CNS was consistent with their recruitment by sustained expression of CXCR3 ligands during viral persistence. Both total and virus-specific ASC were reduced greater than 80% in the CNS of infected CXCR3(-/-) mice. Similar T cell CNS recruitment and local T cell-dependent antiviral activity further indicated that the ASC migration defect was T cell independent. Furthermore, in contrast to the reduction of ASC in the CNS, neither virus-specific ASC trafficking to bone marrow nor antiviral serum antibody was reduced relative to levels in control mice. Impaired ASC recruitment into the CNS of infected CXCR3(-/-) mice coincided with elevated levels of persisting viral RNA, sustained infectious virus, increased clinical disease, and mortality. These results demonstrate that CXCR3 ligands are indispensable for recruitment of activated ASC into the inflamed CNS and highlight their local protective role during persistent infection.
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Movimiento Celular/inmunología , Sistema Nervioso Central/inmunología , Encefalomielitis/inmunología , Encefalomielitis/virología , Virus de la Hepatitis Murina/inmunología , Células Plasmáticas/fisiología , Receptores CXCR3/metabolismo , Animales , Infecciones por Coronavirus/inmunología , Infecciones por Coronavirus/virología , Femenino , Masculino , Ratones , Ratones Endogámicos C57BL , Ratones Noqueados , Ratones Transgénicos , Virus de la Hepatitis Murina/patogenicidad , Células Plasmáticas/citología , Receptores CXCR3/genéticaRESUMEN
Natural killer (NK)-cells are a lymphocyte population playing a critical role in the immune surveillance against tumors and virally infected cells. The development of human hematopoietic stem cells (hHSC) into fully differentiated NK-cells pass through discrete stages of differentiation involving a variety of factors such as cytokines, membrane factors, and transcription factors (TFs). Because there is lack of studies in this field, we decided to perform an extended analysis of TFs during in vitro differentiation of NK-cells. At several points of differentiation, cells were characterized by their mRNA expression either for NK-cell cell markers, for a number of mature NK-cell receptors or a large panel of TFs. Our data suggests that some TFs (ID2, EGR-2 and T-BET) play a role in NK-cell commitment, differentiation and maturation. Although delayed on its expression, BLIMP1 also seems to be involved in differentiation and maturation of NK cells, but not in NK-cell commitment. E4BP4 and TOX are more related with initial stages of NK-cell commitment. PU.1, MEF, Ikaros, EGR-1, BCL11B and IRF-2 revealed less involvement in maturation and were more associated with NK-cell commitment and pNK cell production. GATA-3 showed a differential role during the ontogeny of NK-cells. We show that assessment of the transcripts present in the differentiating NK-cells demonstrated, a pattern of preserved and differential gene expression remarkably similar to that seen in mice except for E4BP4 that showed constant downregulation throughout the culture period. A thorough understanding of NK-cell developmental mechanisms is important as it may enable future therapeutic manipulation.
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Diferenciación Celular , Sangre Fetal , Células Asesinas Naturales , Receptores de Células Asesinas Naturales , Factores de Transcripción , Animales , Antígenos CD34/metabolismo , Sangre Fetal/citología , Sangre Fetal/inmunología , Sangre Fetal/metabolismo , Regulación de la Expresión Génica , Humanos , Células Asesinas Naturales/citología , Células Asesinas Naturales/inmunología , Células Asesinas Naturales/metabolismo , Leucocitos Mononucleares/citología , Leucocitos Mononucleares/inmunología , Leucocitos Mononucleares/metabolismo , Ratones , ARN Mensajero/genética , ARN Mensajero/metabolismo , Receptores de Células Asesinas Naturales/genética , Receptores de Células Asesinas Naturales/metabolismo , Factores de Transcripción/genética , Factores de Transcripción/metabolismoRESUMEN
OBJECTIVE: The purpose of this essay is to illustrate the imaging findings of congenital cystic lesions of the biliary tract. CONCLUSION: Congenital cystic lesions of the biliary tract include ductal plate malformations and choledochal cysts and can be recognized with characteristic imaging findings and basic knowledge of the embryologic development of the biliary tree.
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Sistema Biliar/embriología , Quiste del Colédoco/diagnóstico , Quiste del Colédoco/embriología , Diagnóstico por Imagen , Medios de Contraste , Diagnóstico Diferencial , HumanosRESUMEN
Glomus tumour is a rare benign mesenchymal neoplasm usually located in the dermis and subcutis, and most commonly found in the extremities. Glomus tumour in the gastrointestinal system is rare and its symptoms unspecific. The diagnosis of gastric glomus tumour is challenging due to the lack of specific findings on imaging and blood analysis, and so is usually based on histology and immunochemistry. We describe the case of a 22-year-old man admitted for pallor and anaemia, the diagnostic path, treatment and follow-up. The present case suggests that this rare entity should be considered in the differential diagnosis of gastric lesions. LEARNING POINTS: Glomus tumour is a rare benign mesenchymal neoplasm most commonly found in the extremities.Gastric glomus tumour (GGT) is rare and its symptoms unspecific.The diagnosis of GGT relies on histology and immunohistochemistry as imaging lacks accuracy.Treatment is usually surgical but follow-up should be considered due to its malignant potential.
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The authors describe the case of a man in his 60s who presented with progressive pain and swelling of the right hip. Imaging features showed a densely calcified lesion associated with 'sedimentation sign'. Laboratory tests revealed slight hyperphosphataemia. Surgical excision of the lesion was performed. Histological examination revealed chalky material surrounded by fibrosis and giant multinucleated cells, compatible with tumorous calcinosis. Patient made a full recovery. We report a rare case of tumorous calcinosis and compare this condition with its common mimics.
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Calcinosis , Hiperfosfatemia , Calcinosis/complicaciones , Calcinosis/diagnóstico por imagen , Calcinosis/cirugía , Cadera/patología , Humanos , MasculinoRESUMEN
The objective of this study was to determine the effect of the mycotoxin binder montmorillonite (MMT) supplemented in the diet of dairy cows on the bioavailability of vitamins A, D, E, B1 and B6. Six multiparous Holstein-Friesian cows were used in a crossover design with two periods. Treatments were a control diet with or without MMT. Vitamins were infused individually into the abomasum through the ruminal cannula. Blood samples were collected from the jugular vein at 0, 1, 2, 3, 4, 6, 9, 12, 24 and 48 h after the administration of each vitamin. Results showed that vitamin A reached maximal concentration (Tmax) at 5.3 h after dosing, the maximal concentration (Cmax) was 1.2 times higher than the basal concentration (Cbasal), and the area under the curve (AUC) was 739 arbitrary units. Vitamin B6 reached the Tmax at 13 h after dosing, the Cmax was 1.4 times higher than the Cbasal, and the AUC was 222 arbitrary units. No differences were observed in Cbasal, Tmax, Cmax and AUC of vitamin A and B6 between control vs. MMT-supplemented cows. Plasma concentrations of vitamins D, E and B1 had no concentration peaks, and were not affected by MMT addition. The lack of a response suggests that their plasma concentration may be tightly regulated. Results of this study do not show evidence that MMT affects the bioavailability of vitamins A and B6 in vivo.
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Alimentación Animal/análisis , Bentonita/metabolismo , Disponibilidad Biológica , Bovinos/metabolismo , Suplementos Dietéticos , Micotoxinas/metabolismo , Vitaminas/metabolismo , Animales , España , Vitaminas/sangreRESUMEN
Parents' emotion socialization practices are an important source of influence in the development of children's emotional competencies This study examined parental reactions to child negative emotions in a clinical sample using a cluster analysis approach and explored the associations between clusters of parents' reactions and children's and parents' adjustment. The sample comprised 80 parents of Portuguese children (aged 3-13 years) attending a child and adolescent psychiatry unit. Measures to assess parental reactions to children's negative emotions, parents' psychopathological symptoms, parents' emotion dysregulation, and children's adjustment were administered to parents. Model-based cluster analysis resulted in three clusters: low unsupportive, high supportive, and inconsistent reactions clusters. These clusters differed significantly in terms of parents' psychopathological symptoms, emotion dysregulation, and children's adjustment. A pattern characterized by high supportive reactions to the child's emotions was associated with higher levels of children's adjustment. On the other hand, an inconsistent reactions pattern was associated with the worst indicators of children's adjustment and parental emotion dysregulation. These results suggest the importance of supporting parents of children with emotional and behavioural problems so that they can be more responsive to their children's emotional manifestations.
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Relaciones Padres-Hijo , Problema de Conducta , Adolescente , Niño , Análisis por Conglomerados , Emociones/fisiología , Humanos , SocializaciónRESUMEN
Pediatric-type follicular lymphomas are rare lymphomas, affecting mostly children and young adults. These are characterized by an excellent prognosis, despite their conservative therapeutic approach. Recognized as an entity in the most recent 2016 WHO classification of tumors of hematopoietic and lymphoid tissues, its diagnosis is based on the recognition of an exclusively nodular architecture, thus conditioning the possibility of a cytological diagnosis. It is thus not odd, the scant literature found on the cytological approach to these lesions. Herein we describe a case of a pediatric-type follicular lymphoma, first approached through fine needle biopsy. The case is thoroughly discussed from a cytologic, immunophenotypic, and molecular point of view. Differential diagnoses are discussed. The final diagnosis was performed on histology.
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Citometría de Flujo , Hibridación Fluorescente in Situ , Linfoma Folicular/patología , Adolescente , Biopsia con Aguja Fina , Niño , Humanos , Linfoma Folicular/diagnóstico por imagen , Masculino , Tomografía Computarizada por Tomografía de Emisión de PositronesRESUMEN
A 57-year-old woman with Crohn's disease (ulcerative proctitis) treated with mesalazine (5-ASA) developed worsening respiratory distress and cough. The lack of response to antibiotics and the results of bronchoalveolar lavage led to the diagnosis of mesalazine-related hypersensitivity pneumonitis, an infrequent entity. Symptoms improved after discontinuation of mesalazine and the administration of corticosteroid therapy. The authors discuss the diagnosis and management of this rare condition. LEARNING POINTS: A diagnosis of mesalazine-related hypersensitivity pneumonitis should be considered when unexplained respiratory symptoms develop during treatment with mesalazine.It is important to distinguish pulmonary manifestations in patients with inflammatory bowel disease secondary to drug-related toxicity from the disease process itself.Amelioration of symptoms and improvement in imaging and lung function seem to occur only upon abrupt discontinuation of the drug; severe symptoms such as respiratory failure may justify corticosteroid therapy.