Enzymatic replacement therapy in patients with late-onset Pompe disease – 6-Year follow up

Introduction Late-onset Pompe disease (LOPD) is a progressive metabolic myopathy, affecting skeletal muscles, which, if untreated, leads to disability and/or respiratory failure. The enzyme replacement therapy (ERT) improves muscle strength and respiratory function and prevents disease progression. We present a 6-year follow-up of 5 patients with LOPD treated with ERT. Methods Five patients with LOPD received ERT: two started treatment in 2008, other two in 2010 and one in 2011. All patients received recombinant human alpha-glucosidase in dose 20mg/kg intravenously every two weeks. Physical performance was assessed in 6-minute walk test (6MWT) and spirometry was performed to examine FVC and FEV1. Liver enzymes, CK levels were also assessed. Results The walking distance in 6MWT increased by average 16.9±2.26% in the first three years of treatment. Similar changes were detected in spirometry: the most significant FVC increase was observed in two patients with the highest FVC values before treatment, which increased to normal values adjusted for age and sex in three years of treatment, that is by 28% and 34%. In two other patients FVC reached 88% and 76% of predicted values. ERT also improved the liver and muscle enzymes levels. Conclusion The improvements of exercise tolerance and FVC were observed in all patients in the first three years of treatment and were the most pronounced in the longest-treated patients and with the least severe neurological and respiratory symptoms. Our research suggests that early start of the ERT results in higher improvement of respiratory and ambulation functions

Autoimmune meningitis and encephalitis in adult-onset still disease – Case report

Introduction Adult-onset Still disease (AOSD) is a rare systemic inflammatory disease of unknown cause. Its symptoms usually include persistent fever, fugitive salmon-colored rash, arthritis, sore throat (not specific), but it may also lead to internal organs’ involvement, which presents with enlargement of the liver and spleen, swollen lymph nodes, carditis or pleuritis – potentially life-threatening complications. In rare cases, AOSD can cause aseptic meningitis or/and encephalitis. Case presentation We report a case of 31-year-old male patient, who was referred to neurological department for extending diagnostics of frontal lobes lesions with involvement of adjacent meninges. Abnormalities have been revealed in brain MRI, which was performed due to persistent headaches, visual disturbances, fever, fatigue and cognitive decline. Wide differential diagnosis was performed including laboratory findings, contrast enhanced MRI, MR spectroscopy, flow cytometry and finally brain biopsy to exclude neoplastic or infectious origin. Final diagnosis of autoimmune meningoencephalitis in adult-onset Still disease has been made. Conclusion Adult-onset Still disease is a rare cause of inflammatory changes in central nervous system, which if diagnosed, may be treated successfully with steroids (commonly available agent), intravenous immunoglobulins or more specific immunomodulating regiments

The impact of first wave of the SARS-CoV-2 2019 pandemic in Poland on characteristics and outcomes of patients hospitalized due to stable coronary artery disease

Background: An investigation of baseline characteristics, treatment, and outcomes in patients with stable coronary disease after the first wave of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic may provide valuable data and is beneficial for public health strategy in upcoming years. Methods: A multi-institutional registry, including 10 cardiology departments, was searched for patients admitted from June 2020 to October 2020. The baseline characteristics (age, gender, symptoms, comorbidities), treatment (non-invasive, invasive, surgical), and hospitalization outcome (mortality, myocardial infarction, stroke, composite endpoint — major adverse cardiac and cerebrovascular events [MACCE]) were evaluated. The comparison was made to parameters presented by patients from the same timeframe in 2019 (June–October). Multivariable analysis was performed. Results: Number of hospitalized stable patients following lockdown was lower (2498 vs. 1903; p < 0.0001). They were younger (68.0 vs. 69.0; p < 0.019), more likely to present with hypertension (88.5% vs. 77.5%; p < 0.0001), diabetes (35.7% vs. 31.5%; p = 0.003), hyperlipidemia (67.9% vs. 55.4%; p < 0.0001), obesity (35.8% vs. 31.3%; p = 0.002), and more pronounced symptoms (Canadian Cardiovascular Society [CCS] III and CCS class IV angina: 30.4% vs. 26.5%; p = 0.005). They underwent percutaneous treatment more often (35.0% vs. 25.9%; p < 0.0001) and were less likely to be referred for surgery (3.7% vs. 4.9%; p = 0.0001). There were no significant differences in hospitalization outcome. New York Heart Association (NYHA) class IV for heart failure was a risk factor for both mortality and MACCE in multivariate analysis. Conclusions: The SARS-CoV-2 2019 pandemic affected the characteristics and hospitalization course of stable angina patients hospitalized following the first wave. The hospitalization outcome was similar in the analyzed time intervals. The higher prevalence of comorbidities raises concern regarding upcoming years

Mechanical thrombectomy in acute stroke – Five years of experience in Poland

Objectives Mechanical thrombectomy (MT) is not reimbursed by the Polish public health system. We present a description of 5 years of experience with MT in acute stroke in Comprehensive Stroke Centers (CSCs) in Poland. Methods and results We retrospectively analyzed the results of a structured questionnaire from 23 out of 25 identified CSCs and 22 data sets that include 61 clinical, radiological and outcome measures. Results Most of the CSCs (74%) were founded at University Hospitals and most (65.2%) work round the clock. In 78.3% of them, the working teams are composed of neurologists and neuro-radiologists. All CSCs perform CT and angio-CT before MT. In total 586 patients were subjected to MT and data from 531 of them were analyzed. Mean time laps from stroke onset to groin puncture was 250±99min. 90.3% of the studied patients had MT within 6h from stroke onset; 59.3% of them were treated with IV rt-PA prior to MT; 15.1% had IA rt-PA during MT and 4.7% – emergent stenting of a large vessel. M1 of MCA was occluded in 47.8% of cases. The Solitaire device was used in 53% of cases. Successful recanalization (TICI2b–TICI3) was achieved in 64.6% of cases and 53.4% of patients did not experience hemorrhagic transformation. Clinical improvement on discharge was noticed in 53.7% of cases, futile recanalization – in 30.7%, mRS of 0–2 – in 31.4% and mRS of 6 in 22% of cases. Conclusion Our results can help harmonize standards for MT in Poland according to international guidelines

Work-related factors and depressive symptoms in firefighters - preliminary data

Introduction: Firefighters participate in rescue activities with intense physical and psychological stress. The aim of the present study was to assess prevalence of depression and work-related stress in firefighters. Methods and findings: A questionnaire including items related to sociodemographic, health-related and work-related issues has been used. Depressive symptoms were assessed with PHQ-9 scale. Data were collected from 72 fire service workers (9 females). The mean age was 30.1±7.5 and 46.0±8.6 years for men and women respectively. 86.1% declared no chronic disease, 5.5% - hypertension and 4.2% - endocrine diseases. 62.5% were never smokers and 19.4% current smokers. 25% of the group declared drinking alcohol more than 2 times a week. More than 33.0% declared significant work-related stress. The main reasons were: lack of time to perform all activities (27.0%), low influence on work performance (15.3%), low pay (33%) and unequal treatment in the workplace (79.0%). Depressive symptoms were reported by 23%. Ten percent reported burnout symptoms and stress related to work. Conclusion: The occupational obligations and work-related stress may be responsible for the psychological problems experienced by firefighters

Multifocal drug-resistant epilepsy in a patient with a newly discovered mutation in tuberous sclerosis complex 1 gene treated by deep brain stimulation in the anterior thalamic nucleus

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutations in the tumor suppressor genes TSC1 or TSC2. TSC is characterized by the formation of multiple tumors in various organs. The most common neurological manifestation of the disorder is epilepsy present in 79–90% of cases. At least one-third of TSC patients develop drug-resistant epilepsy (DRE) which remains a great challenge for clinicians. Neuromodulation is an option in cases of multifocal epilepsy, epilepsy originating in eloquent areas, or the inability to identify the ictal onset zone. Deep brain stimulation of the anterior thalamic nucleus (ANT-DBS) may be used in the treatment of multifocal DRE. Here, we present a case of a patient with multifocal DRE caused by TSC, who was treated with ANT-DBS. A follow-up period of eight months showed that the patient's multifocal DRE was successfully treated by ANT-DBS

Work-related factors and depressive symptoms in firefighters - preliminary data

Introduction: Firefighters participate in rescue activities with intense physical and psychological stress. The aim of the present study was to assess prevalence of depression and work-related stress in firefighters. Methods and findings: A questionnaire including items related to sociodemographic, health-related and work-related issues has been used. Depressive symptoms were assessed with PHQ-9 scale. Data were collected from 72 fire service workers (9 females). The mean age was 30.1±7.5 and 46.0±8.6 years for men and women respectively. 86.1% declared no chronic disease, 5.5% - hypertension and 4.2% - endocrine diseases. 62.5% were never smokers and 19.4% current smokers. 25% of the group declared drinking alcohol more than 2 times a week. More than 33.0% declared significant work-related stress. The main reasons were: lack of time to perform all activities (27.0%), low influence on work performance (15.3%), low pay (33%) and unequal treatment in the workplace (79.0%). Depressive symptoms were reported by 23%. Ten percent reported burnout symptoms and stress related to work. Conclusion: The occupational obligations and work-related stress may be responsible for the psychological problems experienced by firefighters

Deep brain stimulation in a patient with progressive myoclonic epilepsy and ataxia due to potassium channel mutation (MEAK). A case report and review of the literature

Progressive myoclonic epilepsy (PME) is characterized by prominent myoclonus, generalized tonic-clonic seizures, and less often focal, tonic, or absence seizures. The KCNC1 mutation is responsible for specific clinical phenotype of PME which has been defined as myoclonic epilepsy and ataxia due to potassium channel mutation (MEAK). We present a case of a 44 years-old male patient with genetically proven MEAK who underwent subthalamic nucleus/substantia nigra (STN/SNr) deep brain stimulation (DBS) for his pharmacological-refractory myoclonus and drug-resistant epilepsy (DRE). Since the age of 4–5 years, the patient had been suffering from intention tremor, and later the myoclonic jerks, ataxia involving the upper limbs and walking difficulties worsened. The first bilateral tonic-clonic seizure (BTCS) occurred at the age of 22. The patient agreed to staged bilateral implantation of DBS electrodes placed in the STN/SNr region. The follow-up lasts more than 24 months. The myoclonic jerks assessed by Unified Myoclonus Rating Scale (UMRS) were reduced by nearly 70 % and BTCS was completely abolished. The patient’s ataxia and dysarthria did not improve. Early diagnosis with genetic testing may significantly help in counseling patients with PME and enables to undertake the surgical approach targeting the STN/SNr

Incidence and course of acute coronary syndrome cases following first wave of COVID-19 pandemic

BACKGROUND: The collateral damage caused by the COVID-19 pandemic influences cardiovascular disease patients, mainly acute coronary syndrome (ACS) cases. Additionally, lockdown has caused treatment-related concerns and reluctance, factors that can delay treatment. AIM: To analyse the incidence and course of ACS patients following the first COVID-19 wave. METHODS: The report represents a multi-institutional registry of 10 interventional cardiology departments. ACS patient data were gathered from June to October 2020, the period following the first lockdown in Poland (March 30–May 31, 2020), and compared with the corresponding 2019 timeframe. RESULTS: Patients (2801 and 2620) hospitalized for ACS in 2019 and 2020 (June–October), represent 52.8% and 57.9% of coronary artery disease admissions, respectively. In 2020 vs. 2019, more cases of arterial hypertension (80.2% vs. 71.5%; P <0.001), diabetes (32.7% vs. 28.2%; P <0.001), hyperlipidaemia (53.2% vs. 49.8%; P = 0.01) and smoking history (29.5% vs. 25.8%; P = 0.003) were detected. Median troponin and cholesterol values, as well as glycemia were higher in 2020. Patients were more likely to undergo percutaneous treatment (91.2% vs. 87.5%; P <0.001) and less often referred for surgery (3.7% vs. 4.9%; P = 0.03). No differences in deaths, repeat myocardial infarction, stroke, and/or composite endpoint (major adverse cardiac and cerebrovascular events [MACCE]) were noted. However, suffering from ACS in 2020 (June–October) was a risk factor for mortality based on a multivariable analysis. CONCLUSIONS: The COVID-19 pandemic affects ACS patient profile, course of treatment, and increases risk for mortality

Mechanical thrombectomy in acute stroke : five years of experience in Poland

Objectives: Mechanical thrombectomy (MT) is not reimbursed by the Polish public health system. We present a description of 5 years of experience with MT in acute stroke in Comprehensive Stroke Centers (CSCs) in Poland. Methods and results: We retrospectively analyzed the results of a structured questionnaire from 23 out of 25 identified CSCs and 22 data sets that include 61 clinical, radiological and outcome measures. Results: Most of the CSCs (74%) were founded at University Hospitals and most (65.2%) work round the clock. In 78.3% of them, the working teams are composed of neurologists and neuro-radiologists. All CSCs perform CT and angio-CT before MT. In total 586 patients were subjected to MT and data from 531 of them were analyzed. Mean time laps from stroke onset to groin puncture was 250 99 min. 90.3% of the studied patients had MT within 6 h from stroke onset; 59.3% of them were treated with IV rt-PA prior to MT; 15.1% had IA rt-PA during MT and 4.7% - emergent stenting of a large vessel. M1 of MCA was occluded in 47.8% of cases. The Solitaire device was used in 53% of cases. Successful recanalization (TICI2b–TICI3) was achieved in 64.6% of cases and 53.4% of patients did not experience hemorrhagic transformation. Clinical improvement on discharge was noticed in 53.7% of cases, futile recanalization - in 30.7%, mRS of 0–2 - in 31.4% and mRS of 6 in 22% of cases. Conclusion: Our results can help harmonize standards for MT in Poland according to international guideline