Primary Squamous Cell Carcinoma of the Renal Pelvis: A Rare Complication of Xanthogranulomatous Pyelonephritis.

Xanthogranulomatous pyelonephritis is a rare disease resulting from chronic inflammation and infection of the renal parenchyma. It usually arises as a consequence of obstructive chronic pyelonephritis. Primary squamous cell carcinoma of the renal pelvis is a distinct pathology, very rare in clinical practice, with a well-established association with xanthogranulomatous pyelonephritis. The authors present the case of a 57-year-old woman with chronic pyelonephritis containing xanthogranulomatous features. Subsequent workup revealed a concomitant, unsuspected, primary squamous cell carcinoma of the renal pelvis. With this case, the authors intend to emphasize and reinforce the need to be alert to an uncommon association between two rare diseases due to its diagnostic, therapeutic, and prognostic implications.

Severe Hypertriglyceridemia: A 10-Year Review in a Portuguese Hospital.

INTRODUCTION: Severe hypertriglyceridemia (SHTG) is a rare condition associated with serious complications, such as acute pancreatitis (AP), and the best treatment is still a matter of discussion. The aim of this study is to outline the demographics, management, and outcomes (recurrence and mortality) of complications in patients with SHTG. MATERIAL AND METHODS: A retrospective, observational, and analytical study was carried out by obtaining clinical data from the electronic health records of patients with SHTG admitted to the Internal and Intensive Medicine units from the 1st of January 2009 to the 31st of December 2020 in a university hospital. RESULTS: The cohort included 17 patients. The most common complication was AP (13/17 = 76.5%). Admission to the intensive care unit (ICU) was observed in 84.2%. Among patients with AP, the most commonly administered therapies were insulin (82.4%) and fibrates (76.5%). Plasmapheresis was used in 58.8%, and the criteria for using this technique were mainly based on clinical and laboratory abnormalities. There were no deaths. The readmission rate at 30 days was 36.3%. CONCLUSION: This study shows the morbidity profile associated with SHTG, with a high level of ICU admissions and also a high level of the use of plasmapheresis. In our population, this approach had good results, and this should be highlighted as there are no clear international guidelines for this intervention. Distinguishing between patients with familial chylomicronemia syndrome or with multifactorial chylomicronemia is important as recent specific therapy for lipoprotein lipase (LPL) genetic deficit is available. In the near future, the performance of a genetic study should be considered in patients with SHTG as an attempt to avoid the high recurrence rate of complications of this disease.

Primary Splenic Diffuse Large B-Cell Lymphoma: A Case Report.

Primary splenic lymphoma (PSL) is a rare disease and an improbable cause of splenomegaly or splenic nodules. On the contrary, splenic secondary involvement as part of an advanced lymphoproliferative disorder is more common. The authors present the case of a 49-year-old woman with a primary splenic diffuse large B-cell lymphoma (PS-DLBCL), in which the absence of other organs' involvement determined an ultrasound-guided biopsy of the spleen to achieve a definitive diagnosis. With this case the authors intend to emphasise the extensive differential diagnosis of splenomegaly, splenic nodules or infiltrates, the usefulness of splenic biopsy in establishing the diagnosis and recall a rare disease, with non-specific presenting symptoms, in which the diagnostic workup is challenging. LEARNING POINTS: The differential diagnosis of splenic nodules or infiltrates is vast and challenging, and it includes haematological diseases, systemic infectious diseases but also non-malignant infiltrative diseases.Although some lymphomas frequently present with splenomegaly, this is not the case of DLBCL, with the exception of PS-DLBCL.PS-DLBCL is a very rare pathology, accounting for 1% of all DLBCL and less than 1% of all NHL.

Inferior Vena Cava Syndrome: A Rare Complication.

Inferior vena cava syndrome is rare and often difficult to diagnose because of its rarity and consequent low suspicion. We describe the case of a 28-year-old female patient with a history of nephroblastoma of the right kidney, stage IV, with a favourable histology with epidural metastasis (D5-D9), diagnosed at 3 years of age. The patient underwent treatment with surgery, chemotherapy and radiotherapy. The patient suffered from sudden low back pain worsening over 2 weeks, with progressive inability to walk. The pain radiated to the front of the thighs. Concomitantly, oedema of the lower limbs with cephalocaudal progression was observed. At admission to our institution, the physical examination showed peripheral oedema, abdominal wall venous collaterals, an inability to walk due to low back pain in the supine position, with no neurological deficits. Lumbar MRI showed exuberant epidural venous congestion. The hypothesis of inferior vena cava thrombosis (IVCT) was considered and confirmed by angio-CT. IVCT is prevalent in patients with congenital anomalies of the inferior vena cava, occurring in approximately 60-80% of these cases, and most published series on inferior vena cava syndrome refer to thrombotic complications in this subgroup of patients. There are currently no guidelines defined or validated to guide the diagnosis and approach to IVCT. With this case, we would like to draw attention to a rare disease that should be suspected in all patients with inferior vena cava disease, whether resulting from congenital disease or after surgical procedures. LEARNING POINTS: Diagnosing IVCT can be challenging and a high index of suspicion is needed in presence of abnormalities of the inferior vena cava.In rare instances, IVCT can present with severe lumbar pain due to epidural venous congestion.

Myelitis and Polyradiculoneuropathy With Severe Pain: Unusual Neurological Manifestations as Presenting Symptoms of Brucellosis.

Brucellosis, an endemic zoonosis in Portugal, is a multisystem disease, presenting with neurological manifestations in up to 25% of cases. Neurobrucellosis diagnostic criteria include evidence of central nervous system invasion, either by documenting increased blood-brain barrier permeability that normalizes after treatment or by Brucella isolation. We report 2 patients with systemic brucellosis presenting with neurological symptoms: A 28-year-old female with progressive hemiparesis associated with severe refractory thoracic and lumbar pain, whose spinal magnetic resonance imaging identified longitudinally extensive myelitis. Brucella agglutination test was positive in blood; however, cerebrospinal fluid cytochemical, serological testing, and cultures were negative. A 58-year-old male with intermittent fever in the evening, associated with severe refractory cervical and lumbar spinal and radicular pain. Blood workup identified leukocytosis, elevated inflammatory markers and positive Brucella agglutination test. Cerebrospinal fluid presented mild protein increase and negative serological testing and cultures. Electromyogram revealed demyelinating polyradiculoneuropathy. In both cases, antibiotic therapy induced symptom resolution. Despite the neurological presentation, no evidence of direct nervous system infection was found. An indirect mechanism appears to be involved, such as a parainfectious syndrome or circulating endotoxins release by the bacteria. Brucellosis should be considered in patients presenting with inflammatory neurological symptoms in endemic regions. Prompt diagnosis and treatment are important as chronic infection has significant morbidity.

Takayasu arteritis revisited.

Takayasu arteritis is a large vessel vasculitis with various clinical presentations depending on the territories affected. We report the case of a 47-year-old woman who was diagnosed with Takayasu arteritis following rapid progression of coronary disease. The condition evolved rapidly under corticosteroid therapy, with formation of new arterial stenoses within the carotid and splanchnic circulations. Disease remission was achieved with cyclophosphamide pulses and percutaneous angioplasty of the affected vessels was performed.

A randomized double-blind study comparing the efficacy and safety of orlistat versus placebo in obese patients with mild to moderate hypercholesterolemia.

INTRODUCTION: Obesity is a chronic disease and a serious health problem that leads to increased prevalence of diabetes, hypertension, dyslipidemia and gallbladder disease. OBJECTIVE: To evaluate the efficacy of orlistat for weight loss and improved lipid profile compared to placebo in obese patients with hypercholesterolemia, treated over a period of 6 months. METHODOLOGY: In a 6-month, multicenter (10 centers in Portugal), double-blind, parallel, placebo-controlled study, 166 patients, aged 18-65 years, body mass index (BMI) > or = 27 kg/m2, LDL cholesterol > 155 mg/dl, were randomized to a reduced calorie diet (600 kcal/day deficit) plus orlistat three times a day or placebo. Exclusion criteria included triglycerides > 400 mg/dl, severe cardiovascular disease, uncontrolled hypertension, type 1 or 2 diabetes under pharmacological treatment, and gastrointestinal or pancreatic disease. RESULTS: The mean difference in weight from baseline was 5.9% (5.6 kg) in the orlistat group vs. 2.3% (2.2 kg) in the placebo group. In the orlistat group 49% of patients achieved 5-10% weight loss and 8.8% achieved > 10%. The orlistat group showed a significant reduction in total and LDL cholesterol, with similar changes for HDL in both treatment groups. The frequency of gastrointestinal adverse events was slightly higher in the orlistat group than in the placebo group, leading to discontinuation in 7 patients. CONCLUSION: Treatment with orlistat plus a reduced calorie diet for 6 months achieved significant reductions in weight, BMI and lipid parameters.