Alpha-1 antitrypsin deficiency and Pi*Z allele as important co-factors in the development of liver fibrosis.

BACKGROUND: Alpha-1 antitrypsin deficiency (AATD) is a codominant autosomal hereditary condition that predisposes patients to the development of lung and/or liver disease, and Pi*Z allele is the most clinically relevant mutation. AIM: To evaluate the impact of clinical parameters and AATD phenotypes, particularly the Pi*Z allele, in liver fibrosis. METHODS: Cross-sectional cohort study including consecutive patients with AATD followed in Pulmonology or Hepatology consultation. RESULTS: Included 69 patients, 49.3% had Pi*MZ phenotype and 10.1% Pi*ZZ. An age ≥ 55 years, age at diagnosis ≥ 41 years and AAT at diagnosis < 77 mg/dL predicted a nonalcoholic fatty liver disease fibrosis score (NFS) not excluding advanced fibrosis [area under the curve (AUC) = 0.840, P < 0.001; AUC = 0.836, P < 0.001; AUC = 0.681, P = 0.025]. An age ≥ 50 years and age at diagnosis ≥ 41 years predicted a fibrosis-4 index of moderate to advanced fibrosis (AUC = 0.831, P < 0.001; AUC = 0.795, P < 0.001). Patients with hypertension, type 2 diabetes mellitus (DM), dyslipidaemia, metabolic syndrome, and regular alcohol consumption were more likely to have a NFS not excluding advanced fibrosis (P < 0.001, P = 0.002, P = 0.008, P < 0.001, P = 0.033). Patients with at least one Pi*Z allele and type 2 DM were 8 times more likely to have liver stiffness measurement ≥ 7.1 kPa (P = 0.040). CONCLUSION: Risk factors for liver disease in AATD included an age ≥ 50 years, age at diagnosis ≥ 41 years, metabolic risk factors, regular alcohol consumption, at least one Pi*Z allele, and AAT value at diagnosis < 77 mg/dL. We created an algorithm for liver disease screening in AATD patients to use in primary care, selecting those to be referred to Hepatology consultation.

Subcutaneous versus intravenous infliximab therapy - a real-world study: toward higher drug concentrations.

BACKGROUND: Recently, a formula of subcutaneous infliximab (SC-IFX) has been approved for inflammatory bowel disease (IBD), demonstrating a better pharmacokinetic and immunogenic profiles, compared to intravenous infliximab (IV-IFX), with similar efficacy and safety. AIM: The aim of this study is to evaluate the clinical, biochemical, and pharmacological outcomes of IBD patients in clinical remission, who switched from IV-IFX to SC-IFX, with a follow-up period of 6 months. METHODS: Retrospective cohort study, including IBD patients in clinical remission, previously medicated with IV-IFX, who switched to SC-IFX 120 mg every other week. Biochemical parameters were evaluated before the switch and 6 months after, namely infliximab serum concentrations, erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), and fecal calprotectin. RESULTS: Included 41 patients in clinical remission, 32 with Crohn's disease (78.0%) and 9 with ulcerative colitis (22.0%). All patients maintained clinical remission during the 6 months after the switch, with a treatment persistence rate of 100%, and no patients requiring corticosteroid therapy, switching back to IV-IFX, or IBD-related hospitalization. The mean infliximab serum concentrations were significantly higher after 6 months of SC-IFX (17.3 ±â€…6.6 vs. 9.1 ±â€…5.5 µg/ml, P  < 0.001). However, there were no differences between values of ESR, CRP, and fecal calprotectin, before and after the switch ( P  = 0.791, P  = 0.246, and P  = 0.639). Additionally, none of the patients developed antibodies to infliximab. CONCLUSION: Switching from IV-IFX to SC-IFX in IBD patients in clinical remission is effective and leads to higher infliximab serum concentrations, regardless of the combination with immunomodulatory therapy.

Sedentary behavior, increasing age, and overweight/obesity increase the presence and intensity of the chronic joint pain in individuals affected by Chikungunya fever.

BACKGROUND: Chikungunya fever (CF) is a viral disease, transmitted by alphavirus through Aedes aegypti, and albopictus mosquitoes, affecting several people, mainly in tropical countries, when its transmitter is not under control, and the main symptom of the chronic phase of CF is joint pain. OBJECTIVES: The primary objective of this study was to observe the prevalence, most affected joints, and intensity of chronic joint pain in individuals affected by CF, and also identify the factors associated with chronic joint pain in these individuals. METHODS: Cross-sectional study that evaluated one hundred and thirty volunteers, of both sexes, aged between 20-65 years, with a clinical and/or laboratory diagnosis of CF. The presence of joint pain was investigated using the Brazilian version of the Nordic Questionnaire of Musculoskeletal Symptoms and the intensity of pain using the Visual Analogue Scale. RESULTS: Of the 130 volunteers evaluated, n = 112 (86%) reported currently experiencing chronic joint pain, persistent, for approximately 38.6 ± 1.73 months, with the greatest predominance in the morning (58%). The joints most affected by pain were: the ankles (65.5%), interphalangeal joints of the hands (59.2%), and knees (59.2%). The joints that presented the greatest intensity of pain were: the ankles (5.13 ± 0.34), interphalangeal joints of the hands (4.63 ± 0.34), and knees (4.33 ± 0.33). Sedentary behavior (p = 0.037), increasing age (p = 0.000), and overweight/obesity (p = 0.002) were factors associated with chronic joint pain. CONCLUSION: A high prevalence of chronic, persistent joint pain was observed, with a greater prevalence in the morning. The joints most affected by chronic pain and with the greatest pain intensity were the ankles, and interphalangeal joints of the hands and knees. Sedentary behavior, increasing age, and overweight/obesity were the factors associated with chronic joint pain in individuals affected by CF in this study. Key Points • Individuals affected by CF had a high prevalence of chronic joint pain, persistent and more prevalent in the mornings • The ankles and interphalangeal joints of the hands and knees were the joints with the highest prevalence of pain • The ankles and interphalangeal joints of the hands and knees were the joints with the greatest pain intensity • Sedentary behavior, increasing age, and overweight/obesity were factors associated with chronic joint pain in individuals affected by CF.

BEST-J Score: Validation of a Predicting Model for Delayed Bleeding After Gastric Endoscopic Submucosal Dissection on a European Sample.

BACKGROUND: Delayed bleeding (DB) is a possible adverse event following gastric endoscopic submucosal dissection (ESD). The BEST-J score was created as a risk prediction model for DB following gastric ESD, but is yet to be validated in Western populations. AIMS: We aimed to validate the BEST-J score on a European sample and to perform a subgroup analysis according to histological classification. METHODS: Retrospective study of all consecutive patients undergoing gastric ESD on a European Endoscopic Unit. DB was defined as hemorrhage with clinical symptoms and confirmed by emergency endoscopy from the time of completion to 28 days after ESD. BEST-J score was calculated in each patient and confronted with the outcome (DB). RESULTS: Final sample included 161 patients. From these, 10 (6.2%) presented DB following ESD, with a median time to bleeding of 7 days (IQR 6.8). BEST-J score presented an excellent accuracy predicting DB in our sample, with an AUC = 0.907 (95%CI 0.801-1.000; p < 0.001). Subgroup analysis by histological classification proved that the discriminative power was still excellent for each grade: low-grade dysplasia-AUC = 0.970 (p < 0.001); high-grade dysplasia-AUC = 0.874 (p < 0.001); early gastric cancer-AUC = 0.881 (p < 0.001). The optimal cut-off value to predict DB was a BEST-J score ≥ 3, which matches the cut-off value for high-risk of bleeding in the original investigation. CONCLUSIONS: The BEST-J score still presents excellent accuracy in risk stratification for post-ESD bleeding in European individuals. Thus, this score may help to guide which patients benefit the most from prophylactic therapies following gastric ESD in this setting.

Recurrence rate after piecemeal endoscopic mucosal resection of <20 mm non-pedunculated colorectal lesions: should we worry about the risk?

INTRODUCTION: There is scarce data focused on recurrence neoplasia rate (RR) after piecemeal endoscopic mucosal resection (pEMR) of 10-19 mm non-pedunculated colorectal lesions (NPL). We aimed to analyze the RR after pEMR of 10-19 mm NPL, identify risk factors for its development and compare it with RR after pEMR of ≥ 20 mm NPL. METHODS: Retrospective cohort-study including all ≥10 mm NPL resected by pEMR in our center between 2018-2022 with an early repeat colonoscopy (ERC). RR was defined as recurrence neoplasia identified in the ERC EMR scar with virtual chromoendoscopy or histological confirmation. RESULTS: A total of 444 NPL were assessed, 124 (27.9%) with 10-19 mm. In the ERC, performed a median of 6 months after pEMR, RR was significantly lower for 10-19 mm NPL compared to ≥ 20 mm NPL (13/124 vs 68/320, p = 0.005). In subgroup analysis, RR after pEMR of 15-19 mm NPL was significantly higher compared to 10-14 mm NPL (13/98 vs 0, p = 0.041) but not significantly different compared to ≥ 20 mm NPL (13/98 vs 68/320, p = 0.073). In multivariable analysis, size of NPL (HR 1.501, 95% CI 1.012-2.227, p = 0.044) was the only independent risk factor identified for RR for 10-19 mm NPL. CONCLUSION: Although the early RR after pEMR of 10-19 mm NPL is significantly lower compared to ≥ 20 mm NPL, it is non-negligible (10.5%) and appears to be the highest among 15-19 mm NPL. The size of the lesion was the only independent risk factor for RR. Our findings should be accounted in the selection of the most appropriate post-polypectomy endoscopic surveillance.

Gastric dysplasia in random biopsies: the influence of Helicobacter pylori infection and alcohol consumption in the presence of a lesion.

BACKGROUND: Gastric dysplasia in the absence of an endoscopically defined lesion is rare, usually either a false positive diagnosis or a previously unidentified precancerous lesion during esophagogastroduodenoscopy (EGD). AIMS: Evaluate factors associated with the presence of an endoscopically visible lesion during follow-up in patients with histologic diagnosis of gastric dysplasia in random biopsies. METHODS: Retrospective cohort study including patients referred to our institution for gastric dysplasia in random biopsies during Index EGD. Endoscopic evaluation was performed with a high-definition endoscope using narrow band imaging (HD EGD-0). If no lesion was detected, endoscopic surveillance (HD EGD-FU) was conducted within 6 months for high grade dysplasia (HGD) or 12 months for low grade (LGD) or indefinite for dysplasia (IFD). RESULTS: From a total sample of 96 patients, 5 (5.2%) presented with an endoscopically visible lesion during HD EGD-0, while 10 lesions (10.4%) were identified during HD EGD-FU. Patients with Helicobacter pylori infection at Index EDG and with regular alcohol consumption (≥25 g/day) were 8 and 4 times more likely to have an endoscopically visible lesion on HD EGD-FU (p = 0.012 and p = 0.047). In binary logistic regression, both factors were independent predictors of the presence of gastric lesion on HD EGD-FU (OR 9.284, p = 0.009 and OR 5.025, p = 0.033). CONCLUSIONS: The presence of an endoscopically visible lesion after the histologic diagnosis of gastric dysplasia in random biopsies was more frequent during HD EGD-FU. H. pylori infection at Index EGD and regular alcohol consumption were significant predictors of the presence of gastric lesion on HD EGD-FU.

Lung ultrasound and diuretic therapy in chronic heart failure: a randomised trial.

BACKGROUND: Lung congestion is frequent in heart failure (HF) and is associated with symptoms and poor prognosis. Lung ultrasound (LUS) identification of B-lines may help refining congestion assessment on top of usual care. Three small trials comparing LUS-guided therapy to usual care in HF suggested that LUS-guided therapy could reduce urgent HF visits. However, to our knowledge, the usefulness of LUS in influencing loop diuretic dose adjustment in ambulatory chronic HF has not been studied. AIMS: To study whether to show or not LUS results to the HF assistant physician would change loop diuretic adjustments in "stable" chronic ambulatory HF patients. METHODS: Prospective randomised single-blinded trial comparing two strategies: (1) open 8-zone LUS with B-line results available to clinicians, or (2) blind LUS. The primary outcome was change in loop diuretic dose (up- or down-titration). RESULTS: A total of 139 patients entered the trial, 70 were randomised to blind LUS and 69 to open LUS. The median (percentile25-75) age was 72 (63-82) years, 82 (62%) were men, and the median LVEF was 39 (31-51) %. Randomisation groups were well balanced. Furosemide dose changes (up- and down-titration) were more frequent among patients in whom LUS results were open to the assistant physician: 13 (18.6%) in blind LUS vs. 22 (31.9%) in open LUS, OR 2.55, 95%CI 1.07-6.06. Furosemide dose changes (up- and down-titration) were more frequent and correlated significantly with the number of B-lines when LUS results were open (Rho = 0.30, P = 0.014), but not when LUS results were blinded (Rho = 0.19, P = 0.13). Compared to blind LUS, when LUS results were open, clinicians were more likely to up-titrate furosemide dose if the result "presence of pulmonary congestion" was identified and more likely to decrease furosemide dose in the case of an "absence of pulmonary congestion" result. The risk of HF events or cardiovascular death did not differ by randomisation group: 8 (11.4%) in blind LUS vs. 8 (11.6%) in open LUS. CONCLUSIONS: Showing the results of LUS B-lines to assistant physicians allowed more frequent loop diuretic changes (both up- and down-titration), which suggests that LUS may be used to tailor diuretic therapy to each patient congestion status.

Prognostic impact of red blood cell distribution width in chronic heart failure patients with left ventricular dysfunction.

AIMS: Red blood cell (RBC) distribution width (RDW) measures RBC variations in size. Higher RDW values have been associated with poor outcome in acute heart failure (HF). We aimed to assess the prognostic impact of the RDW in chronic HF. METHODS: We retrospectively analysed a cohort of chronic HF patients with left ventricular systolic dysfunction followed in our HF clinic between January 2012 and May 2018. Patients with missing data concerning RDW were excluded. Patients were categorized according to RDW tertiles: ≤13.5%; between 13.5 and 14.7%; and >14.7%. Patients were followed until January 2021; all-cause mortality was the end point analysed. The association of RDW with all-cause mortality was assessed with a Cox-regression analysis. Two multivariate models were built. RESULTS: We studied 860 chronic HF patients, 66.4% males, mean age 70 (standard deviation, SD 13) years. Patients were followed for a median of 49 (29-82) months. During this period, 423 (49.2%) patients died. Mortality increased with increasing RDW tertiles. Patients with RDW >14.7% had a HR of mortality of 1.95 (1.47-2.58), p < 0.001 (model 1) and of 1.81 (1.35-2.41), p < 0.001 (model 2) when compared with those with RDW ≤13.5. Patients in the second RDW tertile had an all-cause death HR of 1.47 (1.12-1.93) and of 1.44 (1.09-1.90) in models 1 and 2, respectively. CONCLUSIONS: Chronic HF patients with RDW values >14.7% presented an almost 2-fold higher risk of dying in the long term than those with RDW <13.5%. RDW is a widely available and easily measured parameter that can help clinicians in the risk stratification of chronic HF patients.

Correlation between body mass index and joint pain intensity with gait performance in individuals with osteoarthritis / Correlação entre o índice de massa corporal e intensidade da dor articular com o desempenho da marcha em indivíduos com osteoartrite

ABSTRACT BACKGROUND AND OBJECTIVES: Individuals with osteoarthritis (OA) often have joint pain and are overweight or obese. Thus, the objective of this study was to observe whether there is correlation between body mass index and joint pain intensity with gait performance in individuals with OA. METHODS: Cross-sectional study, which evaluated 60 volunteers, being 30 with clinical diagnosis of knee osteoarthritis and 30 without the disease, of both sexes and aged between 50-82 years. Joint pain intensity was assessed using the Visual Analog Scale, gait-related functional tasks using the Dynamic Gait Index, and the functional mobility using the Timed Up and Go test. RESULTS: There was a correlation between overweight/obesity and high levels of joint pain intensity (p=0.018), with worse performance in gait-related functional tasks (p=0.000) and with worse functional mobility (p=0.034) only for the individuals with OA. High levels of joint pain intensity also correlated with worse performance in the gait-related functional tasks (p=0.000) in the OA group, and also with worse functional mobility in the OA group (p=0.001) and also in the group of individuals without the disease (p=0.032). CONCLUSION: This study identified a correlation between overweight/obesity and high levels of joint pain intensity and worse gait performance in individuals with osteoarthritis. High levels of pain intensity also correlated with worse gait performance in individuals with OA.

resumo JUSTIFICATIVA E OBJETIVOS: Indivíduos com osteoartrite (OA) frequentemente apresentam dor articular e sobrepeso ou obesidade. Assim, o objetivo deste estudo foi observar se existe correlação entre o índice de massa corporal e a intensidade da dor articular com o desempenho da marcha em indivíduos com OA. MÉTODOS: Estudo de corte transversal, que avaliou 60 indivíduos, sendo 30 com diagnóstico clínico de osteoartrite de joelho e 30 sem a doença, de ambos os sexos e com faixa etária entre 50 e 82 anos. A intensidade da dor articular foi avaliada pela Escala Analógica Visual, as tarefas funcionais relacionadas à marcha pelo Dynamic Gait Index e a mobilidade funcional pelo teste Timed Up and Go. RESULTADOS: Houve correlação entre o sobrepeso/obesidade e níveis elevados de intensidade da dor articular (p=0,018), com um pior desempenho nas tarefas funcionais relacionadas à marcha (p=0,000) e com menor mobilidade funcional (p=0,034) apenas para os indivíduos com OA. Os níveis elevados de intensidade de dor articular também mostraram correlação com um pior desempenho nas tarefas funcionais relacionadas à marcha (p=0,000) no grupo com OA, e ainda, com uma menor mobilidade funcional no grupo com OA (p=0,001) e também no grupo de indivíduos sem a doença (p=0,032). CONCLUSÃO: Este estudo identificou correlação entre o sobrepeso/obesidade com níveis elevados de intensidade da dor articular e com um pior desempenho na marcha nos indivíduos com OA. Os elevados níveis de intensidade da dor também mostraram correlação com pior desempenho na marcha nos indivíduos com OA.

Predictors of clinical outcomes of hospitalized patients with Covid-19: focusing on pre-existing liver disease.

Chronic liver disease is associated with immune system dysfunction, which can lead to a greater risk of infections. Our goal was to assess the impact of chronic liver disease in Covid-19 outcome in hospitalized patients and to identify predictors of the infection's severity. A retrospective case-control study of adult patients hospitalized in Hospital da Senhora da Oliveira-Guimarães, between March 15th 2020 and March 15th 2021, was performed. Demographic factors, clinical and biochemical data were analyzed, as well as the need for oxygen therapy, non-invasive or mechanical ventilation, admission in the intensive care unit and mortality. A total of 336 patients were included, 168 with and 168 without chronic liver disease, with similar comorbidities and pulmonary involvement. Patients with chronic liver disease had a lower percentage of need for oxygen therapy. Regardless of the presence of chronic liver disease, older age, a previously diagnosed pulmonary disease or cardiac condition and more than 25% pulmonary involvement were associated with increased mortality. The need for non-invasive ventilation was higher if the patient was obese, had a previously diagnosed pulmonary disease or had a higher percentage of lung parenchyma involvement. The need for admission in the intensive care unit was associated with obesity and a greater than 25% pulmonary involvement. Chronic liver disease had no impact on Covid-19 severity. Regardless of the presence of chronic liver disease, obesity had an important role in all outcomes except mortality. A higher percentage of lung parenchyma involvement was associated with worst outcomes.

Serratia marcescens Endocarditis: A Case Report and Literature Review.

Serratia marcescens is a rarely implicated agent in endocarditis. We describe a case of a patient that underwent aortic and mitral valve replacement for Streptococcus agalactiae endocarditis. Four months later, he was readmitted with an ischemic stroke and fever. Physical examination and repetitive transthoracic echocardiogram were unremarkable. The initial blood cultures were negative. Due to sustained fever, vancomycin, gentamicin and piperacillin-tazobactam were initiated. On subsequent blood cultures, Serratia marcescens was isolated and antibiotics switched to ertapenem and gentamicin. In addition to cerebral emboli, a splenic embolus was found. The PET/CT revealed an abnormal hypercaptation in the mitral bioprosthesis. The patient was treated for six weeks. There are no current specific recommendations regarding the treatment of Serratia marcescens endocarditis. It is widely accepted that treatment should be prolonged and include a combination of antimicrobial agents. Morbidity and mortality are high, particularly when there's the need for surgical replacement. In this case, however, the patient ended-up only requiring medical treatment due to the favourable response.

A Serratia marcescens é um agente raro de endocardite. Descrevemos o caso de um doente submetido a substituição das válvulas aórtica e mitral por endocardite causada por Streptococcus agalactiae. Quatro meses após, é readmitido por evento cerebral isquémico e febre. Ao exame objetivo não evidenciava alterações e os ecocardiogramas transtorácicos eram normais. As hemoculturas colhidas à admissão foram estéreis. O doente manteve-se febril, iniciando-se empiricamente vancomicina, gentamicina e piperacilina-tazobactam. Após isolamento de Serratia marcescens em hemoculturas subsequentes, a antibioterapia foi ajustada para ertapenem e gentamicina. Para além de um êmbolo cerebral, foi encontrada embolia esplénica e hipercaptação anormal na prótese mitral biológica em PET. Foi efetuado tratamento durante seis semanas. Não existem recomendações específicas sobre o tratamento de endocardite por Serratia marcescens, mas deve ser prolongado e com terapêutica combinada. A morbimortalidade é elevada, sobretudo quando há necessidade de cirurgia. Neste caso, a evolução clínica favorável do doente permitiu o tratamento médico exclusivo.

Prognostic impact of neurohormonal modulation in very old patients with chronic heart failure.

BACKGROUND: A gap in evidence exists concerning the survival-benefit of neurohormonal blockade in older patients with chronic heart failure (HF). The purpose of our study was to investigate the neurohormonal modulation therapy in older HF patients. METHODS: We retrospectively analysed data on chronic HF patients with systolic dysfunction from January 2012 to May 2018 at a central tertiary academic hospital in Porto, Portugal. Very old (VO) patients were those ≥80 years. Endpoint under analysis: all-cause mortality; patients were followed until January 2021. The prognostic impact of beta-blockers (BBs) and renin-angiotensin system inhibitors (RASi) use was assessed with a Cox-regression analysis adjusting for confounders. RESULTS: We studied 934 patients, 65.5% male; 45.3% had ischemic HF. BBs were used in 92.2% and RASi in 83.5%; 255 (27.3%) were VO patients. VO more often presented co-morbidities, were more symptomatic, presented worse renal function and higher BNP levels. BB prescription was similar in VO and non-VO patients, however RASi were less used in VO: 74.9% versus 86.7%, respectively. During a median follow-up of 47 months, 479 (51.3%) patients died: 71.4% among VO versus 43.7% in non-VO. BBs increased survival both in non-VO and VO-multivariate adjusted HRs of 0.57 (95% CI: 0.38-0.85) and 0.59 (0.36-0.97), respectively. A survival-benefit was also observed with RASi-adjusted HR of 0.71 (0.50-1.01) and 0.59 (0.42-0.83) in non-VO and VO. CONCLUSIONS: VO patients with chronic HF with systolic dysfunction have a very ominous outcome. Neurohormonal modulation therapy appears to portend survival-benefit also in this particularly vulnerable subgroup of patients.

Pleural empyema due to Rhodotorula mucilaginosa: A rare yet severe complication of a previously undiagnosed cancer patient.

Rhodotorula mucilaginosa (R. mucilaginosa) has been increasingly recognized as an emerging opportunistic pathogen causing invasive fungal infection, mainly in immunosuppressed patients. We report the case of a previously undiagnosed lung cancer patient with a pleural empyema due to R. mucilaginosa.

Acquired Hemophilia A associated with bullous pemphigoid: A rare combination.

Acquired Hemophilia A (AHA) is a rare autoimmune disorder, caused by the development of circulating autoantibodies against coagulation factor VIII (FVIII). AHA is associated with bullous pemphigoid in 2% of patients. We report a case of a 74-year-old man admitted with anemia and a tense subcutaneous and muscular hematoma in the right thigh. Blood analysis confirmed AHA. The patient had a recent diagnosis of bullous pemphigoid. Response to bypass agents and corticosteroids was good with bleeding control and normalization of FVIII and negative autoantibodies, respectively. In a 3-month follow-up period after tapering and stopping prednisolone, a relapse occurred, and immunosuppression was reinitiated. An early diagnosis and effective treatment in AHA are essential to reduce morbimortality. A careful tapering of immunosuppression is important to minimize FVIII inhibitor recurrence, as observed in this case.

Non-ketotic hemichorea-hemiballismus presenting as generalised tonic-clonic convulsive state in uncontrolled diabetes.

We report the case of a 70-year-old diabetic woman who presented to the emergency department with multiple seizure episodes and coma, prompting the need for sedation and mechanical ventilation. She was transferred to our institution for neurosurgical evaluation as the initial CT scan identified hyperdense lesions in the left basal ganglia, interpreted as acute intracranial haemorrhage. On admission, laboratory tests were mostly normal except for blood glucose of 413 mg/dL. Medical records revealed a history of poorly controlled diabetes mellitus and non-adherence to therapy. After seizure control and lifting sedation, right-sided ataxia/involuntary movements were observed. Considering the patient's history and these findings, the CT scan was reviewed and the striatal region hyperdensities interpreted as lesions typical of non-ketotic hemichorea-hemiballismus. MRI was latter performed and confirmed the diagnosis, even though the unusual presentation. Levetiracetam initiation and glycaemic control optimisation led to great neurological improvement without seizure recurrence.

Jejunal intussusceptions due to metastatic malignant melanoma: a case report.

Intussusception is an infrequent cause of mechanical bowel obstruction in adults and surgical resection is warranted in most cases. Small bowel is a common site of recurrence from cutaneous melanoma but early diagnosis is still a challenge. Acute peritonitis, haemorrhage and obstruction are known clinical presentations. Wide surgical excision with free margins and accompanied mesentery is the treatment of choice and may improve the prognosis. We present a case of small bowel obstruction due to three intussusceptions by metastatic malignant melanoma submitted to surgery.

Asymptomatic Hyperinsulinaemic Hypoglycaemia.

Hypoglycaemia is rare in apparently well patients without drug-treated diabetes mellitus and warrants evaluation and management when Whipple's triad is present. Even in the absence of Whipple's triad, when repeatedly low values of plasma glucose are documented, the presence of endogenous hyperinsulinism should be investigated. The authors describe a case of endogenous hypoglycaemic hyperinsulinism, its diagnosis and treatment and the challenges of determining its aetiology. LEARNING POINTS: A high degree of suspicion is necessary when a hospitalized, apparently well, patient presents with episodes of hypoglycaemia with no apparent cause.Documented repeated low glucose values (<40-55 mg/dl) warrant investigation even when Whipple's triad is absent.The diagnosis, approach and treatment of endogenous hypoglycaemic hyperinsulinism is challenging and requires persistence, particularly if examinations fail to show the responsible lesion.

Irritable Bowel Syndrome: News from an Old Disorder.

Irritable bowel syndrome (IBS) is a functional gastrointestinal (GI) disorder, which can affect all members of a society, regardless of age, sex, race or socioeconomic status. Because of its high prevalence and chronic nature, it represents a significant economic burden. In fact, these patients have a relevant impairment of their quality of life, which limits their work productivity and daily social activities, especially when it is associated with other disorders, such as anxiety and depression. The diagnosis of IBS relies on symptom-based diagnostic criteria with normal results on a limited number of complementary tests that rule out other possible diagnoses. The aetiology of this condition is incompletely established. However, evidence suggests that it is a multifactorial disorder with several different mechanisms that have been implicated as responsible for the symptoms. Since the treatment strategy is usually based on predominant symptoms and their severity, it is important to recognise the underlying mechanisms in order to successfully relief the visceral pain and altered bowel habits. The aim of this non-systematic review of the literature was to explore the pathophysiology and treatment options of IBS, highlighting the most recent evidence, from the new Rome IV criteria to the new drug armamentarium.

A síndrome do intestino irritável é um distúrbio gastrointestinal funcional, que pode afetar todos os membros da sociedade, independentemente da idade, sexo, raça ou estrato socioeconómico. Devido à sua elevada prevalência e natureza crónica, representa um encargo económico significativo. De facto, estes doentes apresentam uma alteração relevante da sua qualidade de vida, o que limita a sua produtividade laboral e atividades de vida diárias, sobretudo quando está associada a outros distúrbios, tais como ansiedade e depressão. O diagnóstico da síndrome do intestino irritável depende de critérios diagnósticos baseados em sintomas, com resultados normais num número limitado de testes complementares que exluem outros diagnósticos possíveis. A etiologia desta doença não está completamente estabelecida. No entanto, a evidência sugere que se trata de um distúrbio multifatorial com vários mecanismos diferentes que têm sido implicados como responsáveis pelos sintomas. Visto que a estratégia terapêutica é geralmente baseada nos sintomas predominantes e sua gravidade, é importante reconhecer os mecanismos subjacentes para aliviar com sucesso a dor visceral e a alteração dos hábitos intestinais. O objetivo desta revisão literária não sistemática consistiu em explorar a fisiopatologia e opções terapêuticas disponíveis para a síndrome do intestino irritável, realçando a evidência mais recente, desde os novos critérios Roma IV até ao novo arsenal farmacológico.