Adrenocorticotropin-Dependent Ectopic Cushing's Syndrome: A Case Report.

Paraneoplastic syndromes are rare and diverse conditions caused by either an abnormal chemical signaling molecule produced by tumor cells or a body's immune response against the tumor itself. These syndromes can manifest in a variable, multisystemic and often nonspecific manner posing a diagnostic challenge. We report the case of an 81-year-old woman who exhibited severe hypokalemia, metabolic alkalosis, and worsening hyperglycemia. The investigation was consistent with adrenocorticotropin (ACTH)-dependent Cushing's syndrome and, eventually, the patient was diagnosed with stage IV primary small-cell lung cancer (SCLC). SCLC is known to be associated with paraneoplastic syndromes, including Cushing's syndrome caused by ectopic adrenocorticotropin (ACTH) secretion. Despite being associated with very poor outcomes, managing these syndromes can be challenging and may hold prognostic significance.

Masked Polycythemia Vera and Iron Deficiency in a Fertile-Age Woman.

Polycythemia vera (PV) is a myeloproliferative disorder that leads to increased red blood cell (RBC) mass. The V617F activating mutation for Janus kinase 2 (JAK2) is a classic finding in PV, but it is not exclusive to this condition. The radionuclide assay is an accurate method for accessing RBC, but hemoglobin (Hb) and hematocrit (Htc) values are frequently the first abnormal markers reported in a routine blood count and the basis for further investigation. Diagnostic criteria for PV were recently updated to include lower thresholds for Hb and Htc, increasing diagnostic sensitivity. However, it has been reported that a subset of patients does not meet these thresholds, besides having an active masked disease. We are presenting a case of a fertile-age woman with menometrorrhagia, whose blood loss and consequent iron depletion worked as a limiting factor for Hb and Htc increase, delaying the proper diagnosis. Splenomegaly, iron deficiency markers, and low erythropoietin supported PV investigation. The correction of iron depletion led to the unveiling of covert erythrocytosis. Concomitant hemoglobinopathies and secondary causes for erythrocytosis were excluded. The diagnosis was confirmed with polymerase chain reaction (PCR) for V617F-JAK2 mutation and bone marrow biopsy. As this case highlights, despite not meeting diagnostic criteria at presentation, masked PV exhibited clinical, laboratory, and imaging features of active symptomatic disease. For that, a higher level of suspicion must be held for fertile-age women who present with normal Hb and Htc levels and significant iron depletion, in the presence of low serum erythropoietin or splenomegaly.

Assessment of nutritional status of oncology patients at hospital admission: A Portuguese real-world study.

Background: Nutritional status in patients with cancer has a determining role in the evolution of the disease and tolerance to treatments. Severity of undernutrition impacts morbidity and mortality in cancer patients and can limit patient response to the optimal therapies if nutritional issues are not appropriately addressed and managed. Despite the importance of malnutrition for the clinical evolution of oncology patients, there is not yet a universally accepted standard method for evaluating malnutrition in such patients. The aim of this study was to stratify the nutritional status of inpatients at an Oncology Department. Methods: This is an observational study with 561 cancer patients, assessed at admission to a Medical Oncology Department from November 2016 to February 2020. All patients were considered eligible. Non-compliant and/or comatose patients were excluded. Nutritional status was assessed using the PG-SGA, BMI classified with the WHO criteria, and calculation of the percentage of weight loss in the previous 3-6 months. Results: A total of 561 patients (303 F: 258 M; mean age 65 ± 13 years) were included. One-third of the patients, n=191/561 (34%), lost 6% of their weight in the month prior to admission and 297/561 (53%) patients lost 10.2% of weight in the previous 6 months. Mean BMI was 24.1 ± 5.8 kg/m2; N = 280/561 (50%) patients had regular BMI according to the WHO criteria. N = 331/561 (59%) patients reported eating less in the month prior to admission. N = 303/561 (54%) had moderate/severe deficits of muscle and adipose compartments. The PG-SGA identified 499/561 (89%) patients as moderately/severely malnourished, of which 466/561 (83%) patients scored ≥9 points, meeting criteria for a critical need for nutritional support. Fifteen percent of patients scored >4 points, indicating a need for directed therapy for symptom control and only 1% scored <2 points (maintenance nutritional counseling). Conclusion: In this oncological setting, a higher proportion of patients were nutritionally-at-risk or with moderate/severe malnutrition. The large majority of patients in this study presented with a critical need for nutritional intervention. These findings highlight the need for an integrated assessment of nutritional status at patient referral. This will allow early and timely nutrition care, which is recommended to prevent or reverse further deterioration of the condition and to optimize treatment administration.

A Paraneoplastic Syndrome to Remember: A Case of Disseminated Intravascular Coagulation in Lung Cancer.

Disseminated intravascular coagulation (DIC) is an acquired syndrome characterized by the widespread activation of coagulation. It can present as an acute life-threatening emergency or as a chronic process. Mortality is highly dependent on the reversibility of the aetiology and degree of coagulation impairment, so treatment of the underlying cause is vital. The authors present the case of a 57-year-old man whose inaugural presentation of lung cancer was chronic DIC, characterized by three thrombotic events, followed by acute DIC, culminating in death. Metastatic lung cancer was diagnosed only after death. LEARNING POINTS: Disseminated intravascular coagulation (DIC) is an acquired syndrome characterized by systemic intravascular activation of coagulation, originating from and causing damage to the microvasculature, which can present as an acute or chronic condition, manifested by bleeding or thrombotic events.Unexplained thrombotic events should raise suspicion of chronic DIC.Treatment will fail, despite supportive measures, if the cause of the DIC is not identified.

Following leads: connecting dysphagia to mixed connective tissue disease.

Mixed connective tissue disease (MCDT) is a rare condition characterised by the presence of high titres of anti-U1 ribonucleoprotein antibodies and selected clinical features of systemic lupus erythematosus, systemic sclerosis and polymyositis/dermatomyositis. Early symptoms are non-specific, including easy fatigability, myalgia, arthralgia and Raynaud's phenomenon. Some reports emphasised the favourable outcome and excellent response to glucocorticoids, but there are contradictory studies reporting worse prognosis. Also, a subset of patients evolve into a clinical picture more consistent with a major diffuse connective tissue disease. We present the case of a 50-year-old black woman whose inaugural presentation of MCDT was oropharyngeal dysphagia, symmetrical proximal muscle weakness, tongue atrophy and skin sclerosis. High-dose corticosteroids and methotrexate were given with little improvement, maintaining disabling dysphagia leading to a percutaneous endoscopic gastrostomy tube placement. She was then started on intravenous immunoglobulin with progressive remission of symptoms.

Bumpy road to the diagnosis of polycythaemia vera.

Polycythaemia vera (PV) is the most common myeloproliferative neoplasm, characterised by increased red cell mass that can present as an unspecified symptom or a thrombohaemorrhagic event. Its diagnosis is based on the presence of erythrocytosis, the identification of the Janus kinase 2 mutation and bone marrow aspirate or biopsy alterations. The challenge of this disease lies on the treatment approach. Its cornerstone is phlebotomy, but depending on the vascular risk, it can include cytoreductive agents, low-dose aspirin or even anticoagulation. We present the case of a 75-year-old woman, whose inaugural presentation of PV was an arterial peripheral occlusion followed by three recurrent events in the same arterial region and a pulmonary embolism. A phlebotomy was initially performed and, after the diagnosis was made, the patient was initiated on low-dose aspirin and anticoagulation with favourable outcome.

[Specific dermatoses of pregnancy]. / Dermatoses específicas da gravidez.

During pregnancy immunological, metabolic, hormonal and vascular changes occur, and can cause specific skin diseases. The specific dermatoses of pregnancy have undergone numerous changes in nomenclature and classification, partly due to advances in the knowledge of the pathogenesis of these skin diseases. Currently the following diseases are considered specific dermatoses of pregnancy: pemphigoid gestations, polymorphic eruption of pregnancy, intrahepatic cholestasis of pregnancy and atopic eruption of pregnancy. Timely diagnosis and specific and safe treatment are essential to prevent complications which, although rare, may be associated with significant maternal-fetal comorbidity.

Durante a gravidez ocorrem alterações imunológicas, metabólicas, hormonais e vasculares que podem causar alterações cutâneas específicas. A nomenclatura e classificação das dermatoses específicas da gravidez têm sofrido alterações ao longo dos anos, em parte devido aos avanços na descoberta da patogénese destas dermatoses. São actualmente consideradas dermatoses específicas da gravidez: penfigóide gestacional, erupção polimorfa da gravidez, colestase intra-hepática da gravidez e erupção atópica da gravidez. O diagnóstico atempado e tratamento direcionado são essenciais para prevenir complicações que, apesar de raras, podem estarassociadas a significativa comorbilidade materno-fetal.