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.

Moyamoya Disease and Syndrome in Caucasian Patients.

Moyamoya disease is a unique cerebrovascular disease characterized by narrowing of the terminal portion of internal carotid arteries and circle of Willis, with consequent development of a network of collateral vessels in response to brain ischemia. Moyamoya vascular pattern can be idiopathic (Moyamoya disease), is more likely to occur in individuals of Asian ascent and in the pediatric age, or is associated with other diseases (Moyamoya syndrome). We present two cases of stroke in young adults, where workup revealed Moyamoya-type vascular changes. The first case report is of a 42-year-old woman presenting with hemorrhagic stroke, with classic angiographic findings of Moyamoya disease, otherwise asymptomatic. The second case concerns a 36-year-old woman admitted with ischemic stroke; besides the typical angiographic pattern of Moyamoya, the patient was diagnosed with antiphospholipid antibody syndrome and Graves' disease, two conditions known to be associated with this vasculopathy. These case reports illustrate the need to consider this entity in the etiological evaluation of ischemic and hemorrhagic cerebrovascular events, even in Western countries, since management and secondary prevention require specific approaches.

Ascending Aortic Thrombus With Peripheral Embolization.

Thoracic aortic mural thrombi are rare in clinical practice, especially in non-aneurysmatic or non-atherosclerotic vessels. They are typically located in the descending aorta, and less frequently in the aortic arch, abdominal aorta, and ascending aorta. Although they are a rare cause of arterial embolization, this is their main manifestation. We present the case of a 48-year-old man, with no cardiovascular risk factors or history of trauma, who presented with acute arterial ischemia of the right upper limb. From the initial investigation, we highlight the presence of a pedunculated mass in the distal portion of the ascending aorta with signs of instability. Due to the risk of additional embolization, the patient was submitted to urgent surgery, with excision of the aortic defect, implantation of a tubular prosthesis as well as thrombo-embolectomy of the right brachial artery. The etiological evaluation of mural aortic thrombi is challenging and implies the exclusion of some prothrombotic conditions known to predispose to arterial thrombosis. This is a rare case that emphasizes the importance of considering the aorta as a possible source of peripheral embolization, even when there is no significant atherosclerotic or aneurysmatic disease.

Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia With Progression to Neuroendocrine Tumor.

Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH) is a parenchymal lung disease characterized by a proliferation of neuroendocrine cells in the bronchial wall, with possible local invasion and occasional development of tumorlets. It is considered to be a precursor lesion as it can progress to neuroendocrine tumors (NETs). At presentation, approximately one-half of patients with DIPNECH have a synchronous diagnosis of NET. Here, we present the case of a 95-year-old woman with progressive exertional dyspnea. She was found to have an obstructive airway syndrome and long-lasting progressive bilateral pulmonary nodules, with a distribution and growth pattern suggestive of DIPNECH, as well as possible progression to NET in the larger lesions. A transthoracic needle aspiration biopsy of a pulmonary nodule was performed, confirming the diagnosis of NET, evolving from DIPNECH.

Levofloxacin-Induced Acute Pancreatitis.

Drug-induced pancreatitis is a rare entity accounting for less than 2% of acute pancreatitis (AP). Quinolones are commonly used antimicrobials with occasional reports of pancreatitis. We present the case of a 74-year-old man who was diagnosed with acute cystitis five days before hospital admission and was treated with levofloxacin (LVF). Two days after initiating LVF he experienced fever, severe abdominal pain, and nausea. The initial assessment revealed leukocytosis, elevated C-reactive protein, and a significant elevation of amylase and lipase. On abdominal ultrasound, the head of the pancreas revealed an hypoechogenic region suggestive of inflammatory edema. A diagnosis of AP was established. The drug was withdrawn along with supportive care, with complete resolution of the symptoms. No other probable causes of AP were found after further investigation. Although rare, LVF-induced pancreatitis should be considered when managing a patient with AP. Increasing physician awareness is vital to the prompt recognition of this entity.

A Multivariable Prediction Model to Select Colorectal Surgical Patients for Co-Management.

INTRODUCTION: Increased life expectancy leads to older and frailer surgical patients. Co-management between medical and surgical specialities has proven favourable in complex situations. Selection of patients for co-management is full of difficulties. The aim of this study was to develop a clinical decision support tool to select surgical patients for co-management. MATERIAL AND METHODS: Clinical data was collected from patient electronic health records with an ICD-9 code for colorectal surgery from January 2012 to December 2015 at a hospital in Lisbon. The outcome variable consists in co-management signalling. A dataset from 344 patients was used to develop the prediction model and a second data set from 168 patients was used for external validation. RESULTS: Using logistic regression modelling the authors built a five variable (age, burden of comorbidities, ASA-PS status, surgical risk and recovery time) predictive referral model for co-management. This model has an area under the curve (AUC) of 0.86 (95% CI: 0.81 - 0.90), a predictive Brier score of 0.11, a sensitivity of 0.80, a specificity of 0.82 and an accuracy of 81.3%. DISCUSSION: Early referral of high-risk patients may be valuable to guide the decision on the best level of post-operative clinical care. We developed a simple bedside decision tool with a good discriminatory and predictive performance in order to select patients for comanagement. CONCLUSION: A simple bed-side clinical decision support tool of patients for co-management is viable, leading to potential improvement in early recognition and management of postoperative complications and reducing the 'failure to rescue'. Generalizability to other clinical settings requires adequate customization and validation.

Introdução: O aumento da esperança média de vida leva a que a população cirúrgica seja cada vez mais velha e frágil. Os modelos colaborativos de co-gestão entre especialidades médicas e cirúrgicas têm demonstrado ser favoráveis em situações complexas. A selecção de doentes para co-gestão está repleta de dificuldades. O objectivo deste estudo foi construir uma ferramenta de apoio à decisão para selecionar doentes de submetidos a cirurgia colo-rectal para co-gestão. Material e Métodos: A informação clínica foi colhida dos processos clínicos electrónicos de doentes que tiveram um código ICD-9 de cirurgia colo-rectal no período de janeiro 2012 a dezembro 2015, num hospital em Lisboa. A variável resposta consiste na sinalização para co-gestão. Um conjunto de dados de 344 doentes foi usado para o desenvolvimento do modelo predictivo e, um segundo conjunto de dados de 168 doentes foi usado para a validação externa do modelo. Resultados: Os autores construíram um modelo predictivo, de regressão logística, com cinco variáveis clínicas (idade, carga de co-morbilidades, ASA-PS status, risco cirúrgico e tempo de recobro) para predizer a selecção de doentes para co-gestão. O modelo tem uma área sob a curva (AUC) de 0,86 (95% IC: 0,81 - 0,90), um score predictivo de Brier de 0,11, uma sensibilidade de 0,80, uma especificidade de 0,82 e uma precisão de classificação de 81,3%. Discussão: A sinalização precoce dos doentes de alto risco ajuda a definir o melhor nível de cuidados ao doente operado. Desenvolvemos uma ferramenta de apoio à decisão, simples, aplicável à cabeceira do doente com uma boa capacidade discriminativa e preditiva para seleccionar os doentes para co-gestão. Conclusão: A selecção de doentes para co-gestão entre a cirurgia e a medicina interna permite o reconhecimento e a correcção precoce de complicações pós-operatórias reduzindo o 'failure to rescue'. A ferramenta, uma vez customizada e validada, poderá ser aplicada em outros cenários clínicos.

Malabsorption Due to Chronic Giardiasis as a Presenting Symptom of Common Variable Immunodeficiency.

Common variable immunodeficiency (CVID) is a primary immunodeficiency that presents with a broad spectrum of clinical manifestations. We report the case of a 33-year-old man, initially referred to the outpatient internal medicine clinic for anemia. At the evaluation, the patient complained of diarrhea and unintentional weight loss for the last six months. He had no known medical conditions, but his previous medical history highlighted recurrent respiratory infections since childhood and also oral ulcers. The investigation identified iron-deficiency anemia caused by a malabsorption syndrome due to chronic giardiasis (Giardia lamblia cysts identified in fecal culture and Giardia lamblia trophozoites identified in the villi epithelium). Further investigation revealed bilateral bronchiectasis and splenomegaly. Suspecting CVID, a serum protein electrophoresis was performed, which showed a flattening of the gamma region, corresponding to a severe deficit of immunoglobulin (Ig) G, IgA, and IgM. A deficiency in the production of IgG in response to immunizations was confirmed, and the other causes of hypogammaglobulinemia were excluded. Therefore, a diagnosis of CVID was established. Malabsorption due to chronic giardiasis is a rare cause of iron deficiency anemia and an unusual presentation of CVID.

Mediastinum Teratoma Rupture: A Rare Manifestation.

We present the case of a 22-year-old man who presented with cough, haemoptysis and fever of 3 days' duration. A teratoma had been diagnosed 2 years previously. Physical examination was unremarkable but laboratory tests showed anaemia, neutrophilic leucocytosis and an increase in C-reactive protein. Chest CT revealed a teratoma of the anterior mediastinum with post-obstructive pneumonitis suggestive of tumour rupture. Antibiotic treatment resulted in a good clinical outcome. The patient was submitted to a left upper lobectomy and pathological examination revealed a mature teratoma. Teratomas are germ cell tumours that are usually asymptomatic and their rupture is a rare event. LEARNING POINTS: Mature teratomas are usually asymptomatic.Teratoma bronchial rupture is rare.The most frequent location for mature teratomas is the anterior mediastinum.

Pernicious Anaemia with Normal Vitamin B12.

A 49-year-old female patient presented to our hospital with asthenia, odynophagia, low grade fever, worsening symptoms of chronic depression, and symmetric leg paresthesias. Investigations showed macrocytic anaemia, leucopenia, thrombocytopenia, high lactate dehydrogenase levels and a normal Coombs test. Trilineage dysplasia was detected in the bone marrow biopsy specimen. The diagnostic work-up led us to the diagnosis of pernicious anaemia with a spuriously normal value of vitamin B12 and high titres of anti-intrinsic factor autoantibodies. This case highlights the importance of considering vitamin B12 deficiency in the differential diagnosis of myelodysplasia, even when vitamin B12 levels seem to be normal. LEARNING POINTS: Vitamin B12 deficiency is characterized by neuropsychiatric manifestations and bone marrow failure with accompanying dysplastic changes.Spuriously normal vitamin B12 levels can occur in pernicious anaemia due to anti-intrinsic factor autoantibody interference in the laboratory assay.Myelodysplastic syndromes and vitamin B12 deficiency share clinical and laboratory similarities, so a correct differential diagnosis is crucial for adequate treatment.

Behçet Syndrome and Crohn's Disease: What Are the Differences?

Behçet syndrome (BS) is a variable vessel vasculitis that has pleiotropic manifestations. A 43-year-old male with a previous diagnosis of Crohn's disease (CD) presented with deep venous thrombosis and bilateral superficial femoral artery aneurysms. A diagnosis of BS was made, and the patient was treated aggressively with immunosuppressive therapy and bilateral bypass surgery, attaining a favourable outcome. CD has many features that overlap with BS, and it may be challenging to distinguish between these two conditions, as our case illustrates. Nonetheless, the combination of venous thrombosis and arterial aneurysms should point the clinician towards a diagnosis of BS. LEARNING POINTS: Behçet syndrome is a variable vessel vasculitis of unknown aetiology that has pleiotropic manifestations.Crohn's disease has many overlapping features with Behçet syndrome, namely gastrointestinal, cutaneous, articular, ocular and cardiac manifestations.The combination of venous thrombosis and arterial aneurysms should point the clinician towards a diagnosis of Behçet syndrome.

Clinical decision support tool for Co-management signalling.

INTRODUCTION: Co-management between internists and surgeons of selected patients is becoming one of the pillars of modern clinical management in large hospitals. Defining the patients to be co-managed is essential. The aim of this study is to create a decision tool using real-world patient data collected in the preoperative period, to support the decision on which patients should have the co-management service offered. METHODS: Data was collected from the electronic clinical health records of patients who had an International Classification of Diseases, 9th edition (ICD-9) code of colorectal surgery during the period between January 2012 and October 2014 in a 200 bed private teaching hospital in Lisbon. ICD-9 codes of colorectal surgery [48.5 and 48.6 (anterior rectal resection and abdominoperineal resection), 45.7 (partial colectomy), 45.8 (Total Colectomy), and 45.9 (Bowel Anastomosis)] were used. Only patients above 18 years old were considered. Patients with more than one procedure were excluded from the study. From these data the authors investigated the construction of predictive models using logistic regression and Takagi-Sugeno fuzzy modelling. RESULTS: Data contains information obtained from the clinical records of a cohort of 344 adult patients. Data from 398 emergent and elective surgeries were collected, from which 54 were excluded because they were second procedures for the same patients. Four preoperative variables were identified as being the most predictive of co-management, in multivariable regression analysis. The final model performed well after being internally validated (0.81 AUC, 77% accuracy, 74% sensitivity, 78% specificity, 93% negative predictive value). The results indicate that the decision process can be more objective and potentially automated. CONCLUSIONS: The authors developed a prediction model based on preoperative characteristics, in order to support the decision for the co-management of surgical patients in the postoperative ward setting. The model is a simple bedside decision tool that uses only four numerical variables.

Adynamic ileus and diarrhoea: a rare adverse effect of antidepressants.

Antidepressants can cause a variety of gastrointestinal effects, including nausea, dyspepsia, anorexia, constipation, and, rarely, diarrhoea and adynamic ileus. There is a lack of cases associating antidepressants to adynamic ileus and diarrhoea. We report a case of an elderly woman in whom the use of several antidepressants apparently induced adynamic ileus with diarrhoea.