Syncytiotrophoblast Markers Are Downregulated in Placentas from Idiopathic Stillbirths.

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.

Cory's shearwater as a key bioindicator for monitoring floating plastics.

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.

Racemose neurocysticercosis presenting with thalamic stroke: A case report and literature review.

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.

Lower Limb Edema Caused by Metastatic Signet Ring Cell Stomach Cancer.

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.

The Role of Multiparametric MRI in the Local Staging of Prostate Cancer.

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.

Large B-cell lymphoma with IRF4 rearrangement-Fine needle biopsy-Report of a case with an atypical presentation.

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.

From recurrent rhabdomyolysis in a young adult to carnitine palmitoyltransferase II deficiency.

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.

Glomic Tumour of the Stomach: A Rare Cause of Anaemia.

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.

Depression Among Portuguese Pregnant Women During Covid-19 Lockdown: A Cross Sectional Study.

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.

Pulmonary and cutaneous sarcoidosis in a patient with selective immunoglobulin M deficiency / Sarcidosis pulmonar y cutánea en un paciente con déficit selectivo de inmunoglobulina M

Selective immunoglobulin M deficiency (SIgMD) is a rare primary immunodeficiency characterized by decreased serum levels of immunoglobulin M. The pathogenesis of SIgMD is unclear, as well as its association with various immunopathological disorders. We describe a case of sarcoidosis associated with SIgMD. Toour knowledge, such association has not been reported previously. (AU)

Patterns of Parental Reactions to Their Children's Negative Emotions: A Cluster Analysis with a Clinical Sample.

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.

Sedimentation sign: a classical finding on tumorous calcinosis.

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.

Effect of Diet Supplementation with the Mycotoxin Binder Montmorillonite on the Bioavailability of Vitamins in Dairy Cows.

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.

Disseminated Tuberculosis Associated With Adalimumab Therapy.

Therapeutic blockade of tumour necrosis factor alpha (anti-TNF-α) is the mainstay treatment of several rheumatologic diseases. They are unfrequently associated with opportunistic infections and latent tuberculosis (TB) screening is paramount before immunosuppression. A 62-year-old man with psoriatic arthritis was under treatment with adalimumab for over 5 years. The screening for latent tuberculosis infection (LTBI) prior to the start of immunosuppression was negative, and a subsequent interferon gamma release assay 4 years later was also negative. He presented in the emergency department complaining of asthenia, anorexia, fever, night sweats and weight loss for over 5 months. He also complained of memory loss, despite his normal cognitive and neurological examination. After an exhaustive workup, he was diagnosed with a disseminated tuberculosis (cerebral, pulmonary and peritoneal) and treated accordingly. TB diagnosis remains challenging in certain situations. Latent TB screening tests may lack sensitivity and immunosuppressive therapy increases the risk of disseminated infection. We discuss the workup and management of a central nervous system disseminated TB related to adalimumab therapy.

Fine needle biopsy of pediatric-type follicular lymphoma-Cytology, flow cytometry and FISH pattern: A case report.

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.

Disseminated Nocardiosis: The Complexity of the Diagnosis.

Nocardiosis is a rare infection in immunocompetent patients. Nocardia spp. is an uncommon cause of prostate abscesses and is responsible for only 1-2% of brain abscess. Hematogenous dissemination can occur, and presentation of abscesses in more than two locations is required to determine a disseminated nocardiosis. The microbiological diagnosis of this agent is still a challenge due to the complexity of its identification in regular laboratories. An early diagnosis and adequate treatment with effective antibiotics are critical for treating this entity. We report a case of a patient who presented with brain abscess with a previous medical history of prostate abscess to Nocardia spp. which evolved to disseminated nocardiosis.

After All, It was Not Lung Cancer: When The Evidence is Misleading.

The aetiology of pulmonary nodules is varied, with malignant lesions being the most important and requiring rapid diagnosis and treatment. However, although clinical presentation and imaging may suggest a specific diagnosis, it should be kept in mind that some benign pathologies mimic more serious disease. A 50-year-old man presented with left pleuritic chest pain. A CT scan showed an ipsilateral pulmonary spiculated nodule. Pneumonia was assumed and the patient was started on antibiotic therapy. In the absence of improvement, positron emission tomography and a transthoracic aspiration biopsy were performed. Lung cancer was diagnosed and the patient underwent an upper lobectomy. However, examination of the surgical specimen showed no malignancy. LEARNING POINTS: Although complementary diagnostic exams are increasingly available and widely used, they may produce false positive or false negative results.A correct diagnostic approach can lead to an incorrect diagnosis.The preoperative diagnosis of pulmonary nodules can be a challenge.

Mesalazine-induced Hypersensitivity Pneumonitis.

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.

Malignant Peritoneal Mesothelioma as a Rare Cause of Dyspeptic Complaints and Ascites: A Diagnostic Challenge.

INTRODUCTION: Malignant peritoneal mesothelioma (MPM) is a rare malignancy of the mesothelial cells in the peritoneum. The best-defined risk factor is asbestos exposure, but germline mutations in BAP1 also increase susceptibility to this tumor. The diagnosis of MPM is challenging since clinical manifestations are often nonspecific. CASE PRESENTATION: We describe a case of MPM in a 53-year-old former construction worker with prior asbestos exposure. The clinical presentation was a 3-month history of dyspeptic complaints. As initial workup, abdominal ultrasound and upper gastrointestinal endoscopy were performed. Chronic gastritis due to Helicobacter pylori was detected, which was promptly treated but without symptom relief. Abdominal ultrasound showed small volume ascites with hyperechogenic foci, which was later confirmed on computed tomography scan showing the presence of peritoneal nodules in the greater omentum and mesentery. A thorough investigation was conducted based on the suspicion of peritoneal carcinomatosis. A non-peritoneal primary tumor was not found. Ascitic cytology and immunocytochemical studies were suggestive of mesothelioma. He underwent exploratory laparotomy and inoperable peritoneal disease was observed. Peritoneal biopsy confirmed epithelioid-type MPM. Systemic therapy was initiated with platinum plus pemetrexed with good response. The last follow-up was 38 months after the diagnosis. DISCUSSION/CONCLUSION: The diagnosis of MPM is challenging since it requires a high degree of suspicion. MPM has a poor prognosis. The standard of treatment recommended is cytoreductive surgery with hyperthermic intraperitoneal chemotherapy. For those who are inoperable, systemic therapy with pemetrexed-cisplatin combination is the alternative. Given the infrequency of disease, it is imperative to ensure patient participation in clinical trials with the purpose of treatment standardization.

INTRODUÇÃO: O mesotelioma peritoneal maligno (MPM) é uma neoplasia rara das células mesoteliais no peritoneu. O fator de risco mais estabelecido é a exposição aos asbestos, mas as mutações germinativas BAP1 também aumentam a suscetibilidade a esse tumor. O diagnóstico é desafiador, uma vez que as manifestaçõs clínicas são frequentemente inespecíficas. CASO CLÍNICO: Reporta-se o caso de um homem de 53 anos, ex-trabalhador da construção civil, com história de exposição a asbestos. O doente apresentava um quadro de queixas dispépticas com 3 meses de evolução. Para estudo inicial, foram realizadas ecografia abdominal e endoscopia digestiva alta. Na endoscopia foi documentada gastrite crónica por Helicobacter pylori tendo feito tratamento de erradicação, mas sem melhoria sintomática. A ecografia abdominal revelou ascite de pequeno volume com focos hiperecogénicos em suspensão, o que foi posteriormente confirmado em tomografia computorizada, demonstrando a presença de nódulos peritoneais no grande epíplon e mesentério. Uma investigação exaustiva foi conduzida na suspeita de carcinomatose peritoneal, mas não foi encontrado nenhum tumor primário noutra localização. A citologia do líquido ascítico e os estudos imunocitoquímicos foram sugestivos de mesotelioma. O doente foi submetido a uma laparotomia exploradora na qual se documentou doença peritoneal inoperável. A biópsia peritoneal confirmou MPM do tipo epitelióide. Foi iniciado tratamento de quimioterapia com platino em associação com pemetrexed, com boa resposta. Seguimento atual de 38 meses pós-diagnóstico. DISCUSSÃO/CONCLUSÃO: O diagnóstico de MPM é desafiante uma vez que requer um alto grau de suspeição. MPM tem um prognóstico reservado. O tratamento standard recomendado é a cirurgia citorredutora com a quimioterapia intraperitoneal hipertérmica. No entanto, nos doentes inoperáveis, a alternativa é a quimioterapia sistémica com pemetrexed-cisplatina. Dada a raridade da doença, é imperativo integrar estes doentes em ensaios clínicos com o objetivo de padronização do tratamento.

Aggressive Central Nervous System Relapse after Autologous Stem Cell Transplant in Multiple Myeloma: Case Reports and Literature Review.

Extramedullary disease is an aggressive presentation at diagnosis and relapse for multiple myeloma (MM) patients. Central nervous system (CNS) is a very rare manifestation of the extramedullary disease, accounting for less than 1% of MM on diagnosis and relapse. Neurological symptoms are unspecific and usually attributed to other causes. We present two patients with CNS-MM at relapse after autologous stem cell transplant highlighting the importance of clinical suspicion and interdisciplinarity at diagnostic workup as well as the need for intensive therapeutic options on such rare and aggressive cases. The presence of neurological abnormalities in anamnesis and physical examination on a patient with MM should always prompt to suspect of a CNS involvement, and active investigation must be undertaken. MRI is the standard radiological method to detect CNS-MM, with histopathological corroboration by stereotactic biopsy and CSF evaluation alongside. Treatment of CNS-MM should include two essential approaches-be able to cross the BBB and treat the systemic disease. There is no standard therapy for this extramedullary relapse, and a tailored and multiple therapy should be promptly started-intrathecal therapy, radiotherapy, and systemic therapy, including an immunomodulator.