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- Gastrointestinal Tuberculosis Mimicking Crohn’s DiseasePublication . Rafael, MA; Figueiredo, L; Oliveira, AM; Costa, M; Manso, RT; Martins, AWe present the case of a 24-year-old woman with complaints of abdominal pain, bloody diarrhea, and weight loss for 3 months. An outpatient colonoscopy revealed scattered ulcers, suggestive of Crohn's disease (CD). Histopathology also favored the diagnosis of CD. However, after admission to our hospital for further investigation, a chest radiograph revealed pulmonary cavitations. A computed tomography scan suggested the diagnosis of active pulmonary tuberculosis (TB). Therefore, a bronchofibroscopy, a total colonoscopy with ileoscopy, and an upper endoscopy were performed. Not only were acid-fast bacilli present in both bronchoalveolar lavage fluid and gastric juice, but also in colonic biopsies. A complete resolution of gastrointestinal symptoms was achieved 2 weeks after starting anti-TB drugs.
- Zebrafish xenografts as a fast screening platform for bevacizumab cancer therapyPublication . Almeida, C; Mendes, R; Pezzarossa, A; Gago, J; Carvalho, C; Alves, A, et al.Cancer is the second leading cause of death in the world. Given that cancer is a highly individualized disease, predicting the best chemotherapeutic treatment for individual patients can be difficult. Ex vivo models such as mouse patient-derived xenografts (PDX) and organoids are being developed to predict patient-specific chemosensitivity profiles before treatment in the clinic. Although promising, these models have significant disadvantages including long growth times that introduce genetic and epigenetic changes to the tumor. The zebrafish xenograft assay is ideal for personalized medicine. Imaging of the small, transparent fry is unparalleled among vertebrate organisms. In addition, the speed (5-7 days) and small patient tissue requirements (100-200 cells per animal) are unique features of the zebrafish xenograft model that enable patient-specific chemosensitivity analyses.
- IgA nephropathy in a young adult with nephrotic syndrome: Case reportPublication . Cassis, J; Sousa, H; Manso, RT; Ramos, S; Machado, DIgA nephropathy has many clinical presentations, of which nephrotic syndrome is possibly the rarest. Recently, the association of IgA nephropathy with minimal change disease was better described with patients having complete response to steroid therapy and no progression to CKD. We report a similar case in a young male presenting with nephrotic syndrome.
- Uterine PEComas: A Morphologic, Immunohistochemical, and Molecular Analysis of 32 Tumors.Publication . Bennett, JA; Braga, AC; Pinto, A; Van de Vijver, K; Cornejo, K; Pesci, A, et al.Uterine perivascular epithelioid cell tumors (PEComas) are rare neoplasms that may show overlapping morphology and immunohistochemistry with uterine smooth muscle tumors. In this study, we evaluated the morphologic, immunohistochemical, and molecular features of 32 PEComas, including 11 with aggressive behavior. Two distinct morphologies were observed: classic (n=30) and those with a lymphangioleiomyomatosis appearance (n=2). In the former, patients ranged from 32 to 77 (mean: 51) years and 13% had tuberous sclerosis. Tumors ranged from 0.2 to 17 (mean: 5.5) cm with 77% arising in the corpus. Epithelioid cells were present in 100% and a spindled component was seen in 37%. Nuclear atypia was low (53%), intermediate (17%), or high (30%). Mitoses ranged from 0 to 36 (mean: 6) and 0 to 133 (mean: 19) per 10 and 50 high-power fields, with atypical mitoses present in 30%. Thin and delicate vessels were noted in 100%, clear/eosinophilic and granular cytoplasm in 93%, stromal hyalinization in 73%, necrosis in 30%, and lymphovascular invasion in 10%. All tumors were positive for HMB-45, cathepsin K, and at least one muscle marker, with most expressing melan-A (77%) and/or MiTF (79%). A PSF-TFE3 fusion was identified in one while another showed a RAD51B-OPHN1 fusion. Follow-up ranged from 2 to 175 (mean: 41) months, with 63% of patients alive and well, 20% dead of disease, 13% alive with disease, and 3% dead from other causes. In the latter group (n=2), patients were 39 and 49 years old, one had tuberous sclerosis, while the other had pulmonary lymphangioleiomyomatosis. Both tumors expressed HMB-45, cathepsin K, and muscle markers, but lacked TFE3 and RAD51B rearrangements. The 2 patients are currently alive and well. Application of gynecologic-specific criteria (≥4 features required for malignancy: size ≥5 cm, high-grade atypia, mitoses >1/50 high-power fields, necrosis, and lymphovascular invasion) for predicting outcome misclassified 36% (4/11) of aggressive tumors; thus, a modified algorithm with a threshold of 3 of these features is recommended to classify a PEComa as malignant.
- Counting invasive breast cancer cells in the HER2 silver in-situ hybridization test: how many cells are enough?Publication . Polónia, A; Eloy, C; Pinto, J; Braga, A; Oliveira, G; Schmitt, FAIM: To evaluate the intraobserver and interobserver reproducibility of the HER2 in-situ hybridization (ISH) test in breast cancer by measuring the impact of counting different numbers of invasive cancer cells. METHODS AND RESULTS: A cohort of 101 primary invasive breast cancer cases were evaluated for HER2 gene amplification by silver ISH, and the concordance among four observers with different levels of experience, counting different numbers of invasive cancer cells, was determined. The evaluation of the samples included scoring 20 nuclei, in three different areas. The cases were scored twice, with a washout interval of at least 2 weeks. We observed an increase in the intraobserver concordance rate between the first and second evaluations with an increase in cell count. A count of 60 invasive cells was needed to obtain a concordance rate near 95% and an agreement rate greater than 0.80 by all observers. The interobserver concordance rate of the HER2 test also increased with the increase in cell count, reaching at least a 90% concordance rate with a count of 60 invasive cells. The median variability of both the HER2/CEP17 ratio and the average HER2 copy number between different evaluations decreased with the increase in cell count, being statistically higher in HER2-positive cases. CONCLUSIONS: The minimal cell number recommended in current guidelines should be raised to at least 40, and preferably 60, invasive cells. Moreover, cases with amplification levels close to the threshold should be subjected to a dual count from an experienced observer.
- Cellular Variant of Focal Segmental Glomerulosclerosis Treated with Plasma ExchangePublication . Cunha, L; Pereira, F; Manso, RT; Fervenza, F; Soto, KFocal segmental glomerulosclerosis (FSGS) is the most common primary glomerular disease in nephrotic patients in the United States, frequently leading to end stage renal disease (ESRD). The cellular variant is a rare form of FSGS commonly associated with poor outcome. We report a case of cellular variant FSGS with progressive kidney dysfunction successfully treated with plasma exchange (PE). A 49-year-old Caucasian female presented with two days of ankle edema and hypertension. Laboratory findings showed serum creatinine (SCr) 1.6 mg/dL, urine albumin/creatinine ratio (uACR) 2.8 g/g, haematuria 3+ and no immunological abnormalities. Kidney biopsy revealed a cellular FSGS variant with segmental endocapillary proliferation on light microscopic, negative immunofluorescence and widespread foot process effacement by electronic microscopic. Prednisolone 1 mg/Kg was started. Four days later the SCr worsened (3.6 mg/dL) and the patient became severely nephrotic with uACR of6.8g/g, quickly attaining a maximum of 24.6 g/g in a short time and albumin of 2.15g/dL. Pulsed methyl prednisolone was started. Despite a 10 course of steroids, no clinical improvement was observed. Considering the rapidly worsening renal function and severe nephrotic syndrome, PE was begun in association with mycophenolate mofetil and tacrolimus. Kidney function recovered after one week. Complete remission was achieved at 3rd week and remains in complete remission at 27 months follow-up. Prolonged remission is a challenge in primary FSGS. PE associated with combined immunosuppression was effective in the present case. The short and long-term effects of plasma exchange in primary FSGS should be evaluated in prospective studies.
- Severe Systemic Lupus Erythematosus presentation in patient with alternative complement pathway mutationsPublication . Pereira, F; Cunha, L; Campos, P; Gaspar, A; Manso, RT; Soto, KSystemic lupus erythematosus (SLE) is an autoimmune disease which can involve almost any organ, making its difficult therapeutic approach. Immune complex deposition can often activate complement, accounting for many of SLE clinical manifestations and laboratory findings. We present a case of a patient who presented with acute pancreatitis and acute kidney injury as onset manifestations of SLE, later developing neurological manifestations, who was successfully treated with rituximab, plasma exchange and steroids as induction therapy. Persistently low C3 level led to a genetic analysis of the complement system components. We found three polymorphisms in the alternative pathway of complement regulators (complement factor H c2669 G>T, p.Ser890Ile and c3019 G>T, p.Val1007Leu and complement factor I c.482+6 G>T), two of which have been correlated with atypical haemolytic uraemic syndrome and dense deposit disease and also complement factor H -related protein (CFHR1 and CFHR3) mutations by deletion. This raises the question whether these polymorphisms and mutations played any role in our patient’s clinical course.
- IgA nephropathy in a young adult with nephrotic syndrome: Case reportPublication . Cassis, J; Sousa, H; Manso, RT; Ramos, S; Machado, DIgA nephropathy has many clinical presentations, of which nephrotic syndrome is possibly the rarest. Recently, the association of IgA nephropathy with minimal change disease was better described with patients having complete response to steroid therapy and no progression to CKD. We report a similar case in a young male presenting with nephrotic syndrome.
- Intracardiac leiomyomatosis presenting as an intraoperative consultation.Publication . Alves, AJ; Ferreira, MA; Gallego-Poveda, J; Matos, A; Costa-Silva, A; Nobre, A; Lopez-Beltran, AIntravenous leiomyomatosis (IVL) is an extremely rare variant of leiomyoma in which nodular masses of tumor grow within venous channels. Rarely, the tumor can reach the vena cava and right heart. We present a case of a 45-year-old woman, admitted with rapidly evolving exertional dyspnea. Cardiac ultrasonography revealed a "mass in the right chambers". She was submitted to right atriotomy plus tumorectomy, with intraoperative consultation requested. Grossly, the tumor was polypoid, firm, with a smooth surface. The frozen section showed a lesion composed of tortuous vessels and some areas with a fibrillar eosinophil extracellular matrix and others with spindle cells, without significant atypia, mitosis or necrosis. The diagnosis was deferred for definitive paraffin sections. In the definitive H&E and immunohistochemical stains, the case was diagnosed as an IVL and confirmed in the hysterectomy specimen. This is the first case report describing an intraoperative consultation of an intracardiac leiomyomatosis. Clinical information and pathologist awareness to this entity are essential for the correct diagnosis in frozen section.
- Causes of Death in an Acute Psychiatric Inpatient Unit of a Portuguese General HospitalPublication . Barbosa, S; Sequeira, M; Castro, S; Manso, RT; Klut, C; Trancas, B; Santos, NB; Maia, TINTRODUCTION: Psychiatric patients are at increased risk of death from a number of natural and unnatural causes. This study examines the mortality causes of all psychiatric inpatients of an acute psychiatric unit at a general hospital in Portugal for sixteen years (1998 to 2013). MATERIAL AND METHODS: Twenty-one inpatients died at the inpatient unit between 1998 and 2013 (average 1.3 per year). A retrospective study through case-file review was carried to collect demographic characteristics, medical and psychiatry diagnosis. Patients transferred to other wards during their admission were not included. RESULTS: Circulatory system diseases were the most prevalent causes of death, occurring in 2/3 of patients and include pulmonary embolism (n = 6), acute stroke (n = 3), cardiac arrhythmia (n = 2), acute myocardial infarction (n = 1), abdominal aortic aneurysm rupture (n = 1) and heart failure (n = 1). Two patients died with pneumonia and in four cases the cause of death was undetermined. Only one case of suicide was registered. DISCUSSION: Circulatory conditions were the most frequent causes of death in our inpatient unit. Albeit a relatively rare event, inpatient suicide does occur and, in addition to its complex consequences on staff, family and patients should remain a focus for continued prevention. CONCLUSION: Mortality studies are important for determining quality of health care and to create recommendations for preventive measures.