Achondroplasia is a rare skeletal dysplasia, characterized by disproportionate short stature and predisposition to obesity. There is limited evidence on nutritional adequacy in adults with achondroplasia. This study aimed to assess nutrient intake and adequacy in adults with achondroplasia, exploring associations with anthropometric characteristics and physical activity patterns. An exploratory cross-sectional study evaluated 16 Portuguese adults with achondroplasia (10 women), aged 38.4 ± 13.8 years). Nutrient intake was assessed using a validated food frequency questionnaire and evaluated against reference values from the European Food Safety Authority. Anthropometric body composition parameters were assessed using standardized methods and physical activity levels using the International Physical Activity Questionnaire. Most participants (62.5

In renal vasculitis, luminal narrowing can reduce blood flow and activate the renin-angiotensin-aldosterone system, causing renovascular hypertension. We present the case of a 47-year-old man with previous intestinal tuberculosis and episodes of lumbar pain, tender erythematous nodules and arthralgias. He had grade 3 hypertension, unresponsive to treatment, with left ventricular concentric hypertrophy and chronic kidney disease. He was admitted to the ICU due to a hypertensive emergency, with acute kidney failure and a large peri-renal hematoma. The computed tomography and angiography showed bilateral renal scarring, intrarenal pseudoaneurysms and irregularities in the renal, common hepatic and mesenteric arteries, suggesting a medium-vessel vasculitis, namely polyarteritis nodosa. Cyclophosphamide and corticosteroids were started. His blood pressure was controlled, and his kidney function remained stable. Renovascular hypertension is, in infrequent cases, caused by an inflammatory systemic disease. When this is the case, the diagnosis must be considered and appropriately addressed.

Background: Achondroplasia is a rare genetic skeletal condition characterized by disproportionate short stature. There is limited evidence on postural control in adults with achondroplasia and how lower limb lengthening (intervention) interacts with body dynamics. This study investigated sway variability during quiet standing in adults with achondroplasia with natural growth (N) and with lower limb lengthening (LL). Methods: Sixteen adults performed bilateral/unilateral standing tasks. Linear (total excursion, amplitude, and ellipse area) and nonlinear (sample entropy and correlation dimension) center of pressure sway metrics were analyzed in the anteroposterior/mediolateral directions. Relationships between posture metrics, strength, and physical activity were explored. Between-groups statistics were calculated. Results: The LL group exhibited amplified linear sway, indicating larger postural deviations, and reduced sample entropy and correlation dimension, indicative of more rigid and repeated corrections. The N group exhibited more unpredictable and adaptive movement corrections. Numerous correlations emerged between strength and posture measures, with relationships altered by intervention. Conclusions: Adults with achondroplasia display distinct balance strategies influenced by intervention. The results indicate that LL is associated with altered variability and adaptability compared to natural development. Relationships with muscle strength spotlight a key role of muscle capacity in postural control modulation after growth alterations in this population.

Background: Adults with achondroplasia face physical and psychosocial challenges that may impact their health-related quality of life and mental health. This exploratory cross-sectional study aimed to investigate relationships between health-related quality of life, mental health, and physical activity levels in adults with achondroplasia, focusing on potential gender differences. Methods: Sixteen adults with achondroplasia (10 women, 6 men; age 37.2 ± 13.5 years) completed the Short Form Health survey, the Brief Symptom Inventory, and the International Physical Activity questionnaire. Descriptive statistics, non-parametric group comparisons, correlational analyses, and linear regressions were conducted. Results: Moderate physical activity showed strong positive correlations with general health (rs = 0.79, 95% CI [0.50, 0.92]), vitality (rs = 0.60, 95% CI [0.15, 0.85]), and physical functioning (rs = 0.62, 95% CI [0.18, 0.86]), on SF-36. Women reported lower quality of life scores than men across most SF-36 dimensions. Significant gender difference was observed in vitality (r = 0.61) and pain (r = 0.55). Physically active participants presented better outcomes in general health (r = 0.63) and vitality (r = 0.55) compared to inactive participants. Conclusions: This study provides preliminary evidence suggesting potential benefits of moderate-intensity physical activity on health-related quality of life and mental health among adults with achondroplasia, with notable gender differences. While limited by sample size and study design, the findings highlight the need for larger, longitudinal studies to further explore the role of physical activity in enhancing well-being in this population.

Background. Achondroplasia is a genetic rare condition characterized by shorter stature and disproportionate upper and lower limb length. This study aimed to investigate the activation of lower limb agonist–antagonist knee muscles, Rectus femoris and Biceps femoris, in adults with achondroplasia during the squat, through surface electromyography (sEMG) signals. Methods. Eight participants, four women (45.8 ± 15.9 years old) and four men (39.8 ± 14.9 years old) executed three isometric maximum voluntary contractions (iMVC) applying Surface Electromyography for the Non-Invasive Assessment of Muscles (SENIAM) standard recommended tests for these muscles. The sEMG signals were recorded for 30 s while executing the squat movement, including the contraction and relaxation phases. Results. Rectus femoris presented higher activation in men compared to women with achondroplasia, while Biceps femoris was more activated in women. In both men and women, coactivation of these muscles occurred during the squat. Conclusion. In adults with achondroplasia, Rectus femoris and Biceps femoris muscles act synergistically while performing the squat, with coactivation.

Introduction: Sorafenib was the first therapy used for systemic treatment of unresectable hepatocellular carcinoma (HCC). Multiple prognosis factors associated with sorafenib therapy have been described. Objectives: The aim of this work was to evaluate survival and time to progression (TTP) on HCC patients treated with sorafenib, and check for predictive factors of sorafenib benefit. Materials and Methods: Retrospectively, data from all HCC patients treated with sorafenib in a Liver Unit from 2008 to 2018 were collected and analyzed. Results: Sixty-eight patients were included; 80.9% were male, the median age was 64.5 years, 57.4% had Child-Pugh A cirrhosis and 77.9% were BCLC stage C. Macrovascular invasion (MVI) was present in 25% of the patients and 25% of the subjects had other extrahepatic metastasis. The median survival was 10 months (IQR 6.0–14.8) and median TTP was 5 months (IQR 2.0–7.0). Survival and TTP were similar between Child-Pugh A and B patients: 11.0 months (IQR 6.0–18.0) for Child-Pugh A and 9.0 months (IQR 5.0–14.0) for Child-Pugh B (p = 0.336). In univariate analysis, larger lesion size (LS >5 cm), higher alpha-fetoprotein (AFP >50 ng/mL), and no history of locoregional therapy were statistically associated with mortality (HR 2.17, 95% CI 1.24–3.81; HR 3.49, 95% CI 1.90–6.42; HR 0.54, 95% CI 0.32–0.93, respectively), but only LS and AFP were independent predictive factors, as shown in multivariate analysis (LS: HR 2.08, 95% CI 1.10–3.96; AFP: HR 3.13, 95% CI 1.59–6.16). MVI and LS >5 cm were associated with TTP shorter than 5 months in univariate analysis (MVI: HR 2.80, 95% CI 1.47–5.35; LS: HR 2.1, 95% CI 1.08–4.11), but only MVI was an independent predictive factor of TTP shorter than 5 months (HR 3.42, 95% CI 1.72–6.81). Regarding safety data, 76.5% of patients reported at least one side effect (any grade), and 19.1% presented grade III–IV adverse effects leading to treatment discontinuation. Conclusions: We observed no significant difference in survival or TTP in Child-Pugh A or Child-Pugh B patients treated with sorafenib, as compared to more recent real-life studies. Lower primary LS and AFP were associated with a better outcome, and lower AFP was the main predictor of survival. The reality of systemic treatment for advanced HCC has recently changed and continues to evolve, but sorafenib remains a viable therapeutic option.

IntroductionIn 2020, the Directorate General of Health (DGS), a central service of the Ministry of Health in Portugal, approved and co-financed the first Open Dialogue program in the country. The present report aims to demonstrate the preliminary results of the first year of the project, implemented in the northern interior region of Alentejo.MethodsSeven people at the Center of Concern (PCC) and 21 family members/social networks received care through Open Dialogue; four external social workers and psychologists were also involved in the project as members of the support network. A total of 160 network meetings were undertaken, reaching as many as 27 per month in the busiest periods. Based on a previous Italian Research Protocol, developed by Pocobello et al. (non-published manuscript), quantitative and qualitative data were collected in and after the clinical meetings involving PCC and their family/social network, through a multi-method approach: clinical history interview (e.g., generic research on sociodemographic data, duration of untreated symptoms, reasons for requesting help, possible hospitalizations, and/or treatments/therapies) and the following scales applied every five sessions (e.g., CORE-OM, BSI, GAF, and LSNS-6).ResultsThe preliminary results indicate an improvement in global functioning and the enlargement of social network size/support, a decrease in symptoms, and a negative correlation between the number of sessions and the LSNS6. Medication use remained largely unchanged at the end of the project.DiscussionIn general, even with a small sample, the results are considered satisfactory and seem to be aligned with the vast majority of Open Dialogue studies, which for several decades have consistently pointed toward better recovery rates than treatment as usual as well as increased client satisfaction. We expect that the results presented can boost further research and help strengthen the OD approach.

The COVID-19 pandemic resulted in severe, unprecedented changes affecting the world population. Restrictions in mobility, social distancing measures, and the persistent social alarm, during the first period of pandemic, resulted in dramatic lifestyle changes and affected physical and psychological wellbeing on a global scale. An international research team was constituted to develop a study involving different countries about eating motivations, dietary habits and behaviors related with food intake, acquisition, and preparation. This study presents results of an online survey, carried out during the first lockdown, in 2020, assessing food-related behavior and how people perceived them to change, comparatively to the period preceding the COVID-19 outbreak. A total of 3332 responses, collected from 16 countries, were considered for analysis [72.8% in Europe, 12.8% in Africa, 2.2% in North America (USA) and 12.2% in South America]. Results suggest that the main motivations perceived to drive food intake were familiarity and liking. Two clusters were identified, based on food intake frequency, which were classified as "healthier" and "unhealthier". The former was constituted by individuals with higher scholarity level, to whom intake was more motivated by health, natural concerns, and weight control, and less by liking, pleasure or affect regulation. The second cluster was constituted by individuals with a higher proportion of male and intake more influenced by affect-related motivations. During this period, a generalized lower concern with the convenience attributes of foods was noted (namely, choice of processed products and fast-food meals), alongside an increase in time and efforts dedicated to home cooking. Understanding the main changes and their underlying motivations in a time of unprecedented crisis is of major importance, as it provides the scientific support that allows one to anticipate the implications for the future of the global food and nutrition system and, consequently, to take the appropriate action.

Objective: Vasculitides are a group of rare, systemic diseases that induce inflammatory reactions in blood vessels, causing a reduction of blood flow and ischemia. In the kidney, luminal narrowing reduces blood flow and activates the renin-angiotensin-aldosterone system, causing renovascular hypertension. Design and method: Clinical case report. Results: A 47-year-old male with previous intestinal tuberculosis and hypertension diagnosed two years prior (blood pressure around 220/110 mmHg) was referred to our Hypertension Clinic. He reported self-limited episodes of lumbar pain, tender erythematous nodules in the shins and arthralgias. His mean office blood pressure was 203/118 mmHg, confirmed in home blood pressure monitoring, without medication. He had left ventricular concentric hypertrophy and chronic kidney disease (eGFR 66 mL/min/1.73m2) with albuminuria (561 mg/24 h). Verapamil and clonidine were prescribed to search for secondary hypertension but he missed the following appointment. A few months later he was admitted to the Intensive Care Unit due to a hypertensive emergency, with acute kidney failure and a large peri-renal hematoma. A CT scan and an angiography showed bilateral renal scarring, intrarenal pseudoaneurysms and small irregularities in the renal arteries. The immunologic panel was negative. A PET scan showed a slight enhancement of the aorta walls and common carotid arteries and the diagnosis of large-vessel vasculitis was established. He was discharged with high-dose corticosteroids and lisinopril and returned to our Hypertension Clinic. His blood pressure remained uncontrolled despite full-dose amlodipine, chlorthalidone and nebivolol; lisinopril was stopped due to worsening kidney function. Due to doubts on the diagnosis, the CT scan was repeated, now showing also irregularities in the common hepatic artery and mesenteric artery, suggesting a medium-vessel vasculitis, namely polyarteritis nodosa, and cyclophosphamide was started. His blood pressure is now controlled with lisinopril 2.5 mg, amlodipine 10 mg bid, furosemide 40 mg bid, nebivolol 5 mg and clonidine 0,15 mg tid and his kidney function is stable. Conclusions: Renovascular hypertension is responsible for less than 1% of all cases of hypertension and, when present, it is usually caused by atherosclerotic disease or fibromuscular dysplasia. However, in more infrequent cases, an inflammatory systemic disease may be present and must be considered.

Acute interstitial nephritis can result from drug's hypersensitivity reaction. This paper describes the development of an acute interstitial nephritis in a 25 years-old woman treated for the last 7 weeks with clozapine for a psychiatric disorder. Fever, elevated inflammatory markers and acute kidney injury were identified, and renal biopsy confirmed the diagnosis of interstitial nephritis. Patient experienced complete recovery after clozapine withheld. Clozapine is a highly effective antipsychotic drug, but can it causes fatal agranulocytosis and its hematological toxicity is well documented. We report clozapine-induced acute interstitial nephritis as another serious side-effect, suggesting that renal function monitoring should be considered in patient under clozapine treatment.

Background: COVID-19 is predominantly transmitted by droplets, being the risk of infection greatly increased in aerosol-generating procedures, such as intubation, extubation and aspiration of the orotracheal tube. Given the high transmission of this disease, it led to a reorganization of hospital teams and dynamics, with the implementation of additional protection measures. Medical innovation has taken an interesting role in the development of materials that provide protection when approaching the airway. Case: Male patient, 69 years old COVID-19 patient admitted to the Intensive Care Unit (ICU), that complicated with cardiopulmonary arrest. Advanced life support maneuvers with orotracheal intubation was immediately implemented, with recovery. The airway approach was performed using videolaryngoscope and placement of a plastic clamp in the orotracheal tube, only unclamped after connection to the closed circuit of the ventilator. For all these procedures, the aerosol box available at the ICU was used. Summary: The aerossol box and orotracheal tube clamp provided professionals decreases the dispersion of droplets and aerosols, reducing the exposure and consequently the risk of contagion of health professionals. Nevertheless, training and preparation of the staff is necessary in order to enhance the benefits and reduce the difficulties associated with the lack of experience in their use.

Oral anticoagulants (OAC) are indicated in patients with atrial fibrillation (AF) and high risk of ischemic stroke. However, the introduction of anticoagulation in patients with AF and previous intracerebral hemorrhage (ICH) is controversial. We aimed to better understand the efficacy and safety of OAC in this context and to assess the factors that may influence this decision. In a single-center retrospective observational study, patients with AF and ICH who survived hospitalization at a level A Stroke Unit between 2009 and 2018 were included. Patients were followed for two years after discharge. Data were collected regarding the introduction or not of OAC and the occurrence of major thrombotic/hemorrhagic events and death. Ninety-five patients (75.2 ± 9.9 years) were included and 40 patients (42.1%) started OAC. Patients were more likely to initiate anticoagulation if they had: mechanical prosthetic valves, previous AF (p = 0.005) and previous OAC therapy (p < 0001); and less if they had previous hemorrhagic stroke (p < 0.005). During follow-up, 10.5% had at least one major hemorrhagic event (60% anticoagulated), 20% had at least one major thrombotic event (all non-anticoagulated) and 20% died. The only factor associated with the risk of bleeding was ICH score (OR:2.49 per 1-point increase; 95%CI:1.14–5.46). Patients who initiated anticoagulation had lower mortality than non-anticoagulated (OR:0.296; 95%CI:0.090–0-975). Previous ICH and higher CHA2DS2-VASc were associated with higher mortality. In this retrospective series, anticoagulation reduced thrombotic events and overall mortality in patients admitted for ICH and AF, without a significant increase in bleeding risk.

Acute aortic syndromes (AAS) are life-threatening conditions that can be often overlooked due to its rarity and wide array of differential diagnosis. We reported the case of a hypertensive 66-year-old woman presenting in the emergency department with syncope followed by acute installation of neurological deficits. Brain computed tomography excluded stroke or intracerebral hemorrhage. Arrhythmic event, acute coronary syndrome and pulmonary embolism were excluded by adequate investigation. Computed tomography pulmonary angiography showed moderate pericardial effusion, an elevated caliber of the aorta and a hypodensity in the aortic root. The finding of pericardial effusion, subsequently confirmed on echocardiogram. was thought to be the underlying cause of the symptoms and the patient was admitted with syncope and pericardial effusion for additional study. In the first hospitalization day she described having an abrupt tearing interscapular pain just before syncope installation. Considering the high suspicion of AAS. the patient was immediately admitted in cardiothoracic operating room. There was confirmation of intramural hematoma with aortic dissection, and she was submitted to surgical correction, presenting a favorable clinical outcome. The patient has been followed for 4 years, remaining asymptomatic, without imagological evidence of dissection. This case exemplifies the diagnostic challenge of AAS and emphasizes that symptoms recognition is mandatory for a timely diagnosis and treatment.

We present the case of a 75-year-old diabetic female with no history of chronic kidney disease, treated with metformin, that complained of vomiting and abdominal pain in the last month; at admission she had acute kidney injury and severe lactic acidosis. She evolved quickly to vasoplegic shock, and immediately started treatment with vasopressors and continuous renal replacement therapy (RRT). Lactic acidosis solved and hemodynamic status recovered, but renal dysfunction persisted. After etiologic study she was diagnosed with multiple myeloma. Metformin-associated lactic acidosis (MALA) is a cause of multiple organ dysfunction, including renal dysfunction; however, patients are typically weaned from RRT within 72 hours. One should be aware of the transient nature of this condition in order to carefully investigate unrecovered renal function among patients with MALA. Diagnosis of multiple myeloma should not be delayed, and treatment should be started immediately in order to improve odds of renal recovery and the prognosis of this condition.

Mononeuritis multiplex is a peripheral neuropathy most frequently associated with primary systemic vasculitis, but also associated with neoplastic and infectious disorders. We report a case of a 62-year-old woman with leukopenia and a lower extremity neuropathy with motor and sensitive deficits, for 6 months. She h ad no other symptoms. Except for the neurologic deficits. her physical exam was unremarkable. Previous hematologic study had revealed multiple cervical, thoracic and abdominal pericentimetric adenopathies and immunoelectrophoresis, myelography and bone biopsy were performed with no significant abnormality. Needle electromyography revealed subacute multiple mononeuropathy. Imaging reevaluation showed stable adenopathies. Axilar node biopsy was perforated with nonspecific histological results. An extensive study of primary systemic vasculitis and infectious disorders was performed and a high titre of antinuclear and anti-dsDNA antibodies stood out. A diagnosis of systemic lupus erythematosus was established and treatment was started with methylprednisolone pulse therapy for 3 days followed by prednisolone 0.5 mg/kg/day and hydraxychlomquine 400mg/day. Clinical improvement was observed. Maintenance therapy was accomplished with azathiopnne allowing progressive reduction of prednisolone and analgesics. Later on, the immunohistochemistry results of the biopsied lymph node were suggestive (but not confirmative) of a follicular lymphoma. A lymph node excision to confirm the diagnosis was attempted but unsuccessful. Given the asymptomatic state of the patient and the indolent natural course of follicular lymphoma, no further interventions were pursued and observational approach was maintained.

A 54-year-old Caucasian male presented to the emergency department complaining of odynophagia, fever and malaise. Blood test showed pancytopenia with severe neutropenia (50 neutrophils/microliter), mild elevation of cholestasis enzymes and high C-reactive protein. Abdominal ultrasonography showed hepatosplenomegaly and signs of portal hypertension. He was a non-smoker with no alcohol or recreational drug use and without recent travels. He had a previous history of recurrent arthralgias with a positive title for rheumatoid factor but without criteria for Rheumatoid Arthritis. There were no clinical or radiological signs of joint destruction. After excluding other causes, a diagnosis of non-articular Felty Syndrome was presumed and the patient was started on glucocorticoids. Neutropenia resolved completely in 4 months, under a low maintenance dose of prednisolone (0.25mg/kg/day). The patient remains without articular manifestations on 3-years follow-up. We report an unusual case of non-articular Felty Syndrome as the first manifestation of Rheumatoid Arthritis. This is the first case report of a 3-years follow-up of a patient under a low dose of prednisolone that remained asymptomatic without therapy with a disease-modifying antirheumatic drug. There is only one case report describing successful use of prednisolone as monotherapy but follow-up is not available. This case showed that Felty Syndrome prognosis could be better than expected in some patients, mainly in those with short disease duration, without severe long-lasting erosive arthritis and less exposed to immunosuppression. This case also highlights the importance of an accurate differential diagnosis so as to recognise an uncommon presentation of Rheumatoid Arthritis.