Synchronous parathyroid adenoma and thyroid papillary carcinoma: a case report

A 51-year-old female patient presented with atypical chest pain, laryngo-oesophageal reflux, increased levels of serum calcium and parathyroid hormone. Ultrasonography showed a multinodular goiter with a prominent solid nodule in the lower left thyroid lobe and a solid hypoechoic nodule outside this area

The impact of depression and anxiety in prognosis of patients undergoing myocardial perfusion imaging with 99mTc tetrofosmin SPECT for evaluation of possible myocardial ischemia

Background: The goal of this study was to evaluate the prevalence of depression and anxiety in patients subjected to myocardial perfusion imaging (MPI) with 99mTc tetrofosmin stress-rest single-photon emission computer tomography (SPECT), and their impact on their cardiological events or disease. Material and Methods: Patients referred to the Nuclear Medicine Department for 99mTc tetrofosmin myocardial MPI-SPECT were asked to fulfill the Zung Self-Rating Depression Scale (ZDS) and Hamilton anxiety questionnaire (HAQ). Among 213 patients who completed the ZDS and HAQ, 80 patients (59 males and 21 females) were selected for this study because they had no known psychological disease, other disease that could influence psychological status, or use of narcotic drugs. Collected data from MPI and psychological status were subsequently analyzed. Results: Among all 80 patients, 52 patients (65%) had abnormal MPI of whom 28/52 (53.8%) exhibited either depression, anxiety or both, and 28 (35%) patients had normal MPI of whom 10/28 (35.7%) had abnormal psychological status. The higher number of patients with abnormal psychological status in association with abnormal MPI was noted predominantly in patients with previously established coronary artery disease. A correlation was also noted between obesity, cardiac heredity and depression or anxiety in patients with abnormal MPI. Conclusions: Patients that exhibit depression, anxiety, or both, have high rates of myocardial ischemia, and thus are at risk for subsequent cardiological events

Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study

Background: Approximately 450 000 children are born with familial hypercholesterolaemia worldwide every year, yet only 2·1% of adults with familial hypercholesterolaemia were diagnosed before age 18 years via current diagnostic approaches, which are derived from observations in adults. We aimed to characterise children and adolescents with heterozygous familial hypercholesterolaemia (HeFH) and understand current approaches to the identification and management of familial hypercholesterolaemia to inform future public health strategies. Methods: For this cross-sectional study, we assessed children and adolescents younger than 18 years with a clinical or genetic diagnosis of HeFH at the time of entry into the Familial Hypercholesterolaemia Studies Collaboration (FHSC) registry between Oct 1, 2015, and Jan 31, 2021. Data in the registry were collected from 55 regional or national registries in 48 countries. Diagnoses relying on self-reported history of familial hypercholesterolaemia and suspected secondary hypercholesterolaemia were excluded from the registry; people with untreated LDL cholesterol (LDL-C) of at least 13·0 mmol/L were excluded from this study. Data were assessed overall and by WHO region, World Bank country income status, age, diagnostic criteria, and index-case status. The main outcome of this study was to assess current identification and management of children and adolescents with familial hypercholesterolaemia. Findings: Of 63 093 individuals in the FHSC registry, 11 848 (18·8%) were children or adolescents younger than 18 years with HeFH and were included in this study; 5756 (50·2%) of 11 476 included individuals were female and 5720 (49·8%) were male. Sex data were missing for 372 (3·1%) of 11 848 individuals. Median age at registry entry was 9·6 years (IQR 5·8-13·2). 10 099 (89·9%) of 11 235 included individuals had a final genetically confirmed diagnosis of familial hypercholesterolaemia and 1136 (10·1%) had a clinical diagnosis. Genetically confirmed diagnosis data or clinical diagnosis data were missing for 613 (5·2%) of 11 848 individuals. Genetic diagnosis was more common in children and adolescents from high-income countries (9427 [92·4%] of 10 202) than in children and adolescents from non-high-income countries (199 [48·0%] of 415). 3414 (31·6%) of 10 804 children or adolescents were index cases. Familial-hypercholesterolaemia-related physical signs, cardiovascular risk factors, and cardiovascular disease were uncommon, but were more common in non-high-income countries. 7557 (72·4%) of 10 428 included children or adolescents were not taking lipid-lowering medication (LLM) and had a median LDL-C of 5·00 mmol/L (IQR 4·05-6·08). Compared with genetic diagnosis, the use of unadapted clinical criteria intended for use in adults and reliant on more extreme phenotypes could result in 50-75% of children and adolescents with familial hypercholesterolaemia not being identified. Interpretation: Clinical characteristics observed in adults with familial hypercholesterolaemia are uncommon in children and adolescents with familial hypercholesterolaemia, hence detection in this age group relies on measurement of LDL-C and genetic confirmation. Where genetic testing is unavailable, increased availability and use of LDL-C measurements in the first few years of life could help reduce the current gap between prevalence and detection, enabling increased use of combination LLM to reach recommended LDL-C targets early in life

Serious games for upper limb rehabilitation after stroke: a meta-analysis

Abstract Background Approximately two thirds of stroke survivors maintain upper limb (UL) impairments and few among them attain complete UL recovery 6 months after stroke. Technological progress and gamification of interventions aim for better outcomes and constitute opportunities in self- and tele-rehabilitation. Objectives Our objective was to assess the efficacy of serious games, implemented on diverse technological systems, targeting UL recovery after stroke. In addition, we investigated whether adherence to neurorehabilitation principles influenced efficacy of games specifically designed for rehabilitation, regardless of the device used. Method This systematic review was conducted according to PRISMA guidelines (PROSPERO registration number: 156589). Two independent reviewers searched PubMed, EMBASE, SCOPUS and Cochrane Central Register of Controlled Trials for eligible randomized controlled trials (PEDro score ≥ 5). Meta-analysis, using a random effects model, was performed to compare effects of interventions using serious games, to conventional treatment, for UL rehabilitation in adult stroke patients. In addition, we conducted subgroup analysis, according to adherence of included studies to a consolidated set of 11 neurorehabilitation principles. Results Meta-analysis of 42 trials, including 1760 participants, showed better improvements in favor of interventions using serious games when compared to conventional therapies, regarding UL function (SMD = 0.47; 95% CI = 0.24 to 0.70; P < 0.0001), activity (SMD = 0.25; 95% CI = 0.05 to 0.46; P = 0.02) and participation (SMD = 0.66; 95% CI = 0.29 to 1.03; P = 0.0005). Additionally, long term effect retention was observed for UL function (SMD = 0.42; 95% CI = 0.05 to 0.79; P = 0.03). Interventions using serious games that complied with at least 8 neurorehabilitation principles showed better overall effects. Although heterogeneity levels remained moderate, results were little affected by changes in methods or outliers indicating robustness. Conclusion This meta-analysis showed that rehabilitation through serious games, targeting UL recovery after stroke, leads to better improvements, compared to conventional treatment, in three ICF-WHO components. Irrespective of the technological device used, higher adherence to a consolidated set of neurorehabilitation principles enhances efficacy of serious games. Future development of stroke-specific rehabilitation interventions should further take into consideration the consolidated set of neurorehabilitation principles

Motor and cognitive dynamic difficulty adjustment for robot-mediated upper limb rehabilitation after stroke

Background: Our team developed ROBiGAME, a serious game implemented on an end-effector upper limb (UL) robot that allows simultaneous rehabilitation of motor and cognitive functions. This serious game uses an auto-adaptive mechanism that dynamically adjusts task-difficulty to patients’ degree of impairments. Game characteristics (target position, level of assistance/resistance, number of distractors) continuously vary according to a series of real-time performance indicators (mean success rates, UL kinematics, UL force and reaction time). This study investigated whether this dynamic control mechanism is optimal to deliver rapidly adapting and individualized UL therapy after stroke. Methods: 24 stroke survivors were enrolled in a 5-day protocol. Detailed clinical and robotic assessments were conducted during initial evaluation. Then, each participant completed a daily 45-minute session of robot-assisted therapy (RAT) playing with ROBiGAME during three consecutive days. Relationships between clinical/robotic assessments and game difficulty parameters were studied, regarding motor and cognitive aspects, throughout therapy sessions. Results: Game difficulty parameters oscillated towards a steady state half-way through the first session (after 10 to 15 completed tasks) displaying a rapid adaptation of the system. Mean success rates averaged 75.0% (SD: 7%) indicating an optimal challenge point to maintain motivation and enhance learning during therapy sessions. Finally, motor (Fugl-Meyer Assessment, Action Research Arm Test, Box and Block Test) and cognitive (Bells test, Apples test, MonAmour test) scores strongly correlated to respective difficulty parameters (FMA: r=0.76 p<0.001; ARAT: r=0.71 p=0.001; MonAmour test: r=-0.82 p=0.001) showing that task-difficulty was well adapted to patients’ individual needs. Conclusions: This study illustrates that ROBiGAME’s dynamic difficulty adjustment, during combined motor and cognitive rehabilitation, is tailored to each patient and remains optimal throughout therapy. Future work should evaluate effectiveness of this type of control mechanism for robotic UL rehabilitation after stroke

Wearable powered exoskeletons for gait training in tetraplegia: a systematic review on feasibility, safety and potential health benefits

Background: Recent developments in wearable powered exoskeletons (WPE) allow gait training (GT) for patients after spinal cord injury (SCI). Two recent meta-analyses on GT using WPE showed promising results for paraplegic patients (PP). To this date, there is no review focusing on tetraplegic patients (TP). Objectives: The main objective of this review was to assess feasibility and safety of GT using WPE in patients after tetraplegia. Method: This systematic review was performed according to PRISMA-S guidelines. Two independent reviewers searched several databases for studies on GT using WPE for TP. Primary outcomes concerned the number, type and severity of reported adverse events (AE). Secondary outcomes examined potential additional health benefits (AHB). Results: Forty-one studies (6 randomized trials, 24 cohorts and 11 cases series) were selected, including 166 TP, 26 with complete lesions (AIS A) and 71 with level of injury above C6. Minor AE were reported in 17 TP, concerning cutaneous, cardiovascular or musculoskeletal systems. Occurrence of AE is significantly higher in a PP population compared to TP (p-value = 0.001). Only one major AE concerned a TP. Studies of low level of evidence suggest that GT using WPE could lead to improvements in walking parameters, cardiovascular efficiency and to a reduction of spasticity. Discussion & conclusion: GT using WPE is a feasible and safe intervention for TP. To minimize occurrence of AE, a good patient selection and preparation is proposed. Future clinical trials should be performed to confirm current trends in terms of efficacy and potential AHB

Gene Expression as a Guide to the Development of Novel Therapies in Primary Glomerular Diseases

Despite improvements in understanding the pathogenic mechanisms of primary glomerular diseases, therapy still remains nonspecific. We sought to identify novel therapies targeting kidney-intrinsic injury of distinct primary glomerulonephritides through computational systems biology approaches. We defined the unique transcriptional landscape within kidneys from patients with focal segmental glomerulosclerosis (FSGS), minimal change disease (MCD), immunoglobulin A nephropathy (IgAN), membranous nephropathy (MN) and thin basement membrane nephropathy (TBMN). Differentially expressed genes were functionally annotated with enrichment analysis, and distinct biological processes and pathways implicated in each primary glomerular disease were uncovered. Finally, we identified novel drugs and small-molecule compounds that may reverse each glomerulonephritis phenotype, suggesting they should be further tested as precise therapy in primary glomerular diseases

Bone and brain metastases from ampullary adenocarcinoma

Ampullary carcinoma is the second most common cancer of the peri-ampullary area after pancreatic carcinoma and metastasizes mostly intra-abdominally and to the liver. Extra-abdominal metastases are less frequent. In this report we describe the case of a patient with resected adenocarcinoma of the ampulla of Vater who developed skeletal metastases in the lower extremity and brain metastases. We briefly discuss aspects of this comparatively rare gastrointestinal malignancy

The Implementation of Global Asthma Management Guidelines in Two General Respiratory Outpatient Clinics in Greece

BACKGROUND: The implementation of global guidelines for asthma management aims at asthma control. The aim of this study was to investigate the implementation of asthma management guidelines by both patients and physicians in two general pulmonary outpatient clinics in Greece.METHODS: Two questionnaires were administered to pulmonologists (n=43) and patients (n=181) separately. Asthma control was assessed by Asthma Control Test.RESULTS: All physicians informed their patients about asthma and suggested regular visits. The vast majority educated their patients to recognize symptom deterioration (n=42, 97.7%) and asthma triggers (n=41, 95.3%), to readjust treatment (n=41, 95.3%) and use correctly the inhaler devices (n=40, 93%). Greek pulmonologists suggested physical activity (n=40, 93%), peak flow meter use (n=13, 30.2%) and asthma physiotherapy (n=10, 23.3%), while 13 (30.2%) provided a written action plan. Among 181 participants with asthma, 41 (22.7%) had hyperventilation, while 117 (64.6%), mostly young men, had controlled asthma with high FEV1% predicted and without hyperventilation. Only 21 (11.6%) visited the emergency room in the past 6 months, while 98 (54.1%) had regular follow-up. They had developed a partnership with their physician (n=151, 83.4%) and confirmed their response to education on asthma triggers (n=156, 86.2%), symptom deterioration (n=171, 94.5%), inhaler medication technique (n=168, 92.8%) and peak flow meter use (n=40, 22.1%). Moreover, 118 (65.2%) patients recognized medication categories and 34 (18.8%) had a written action plan. They complied with physical activity suggestion (n=141, 77.9%), while 11 (6.1%) have performed breathing exercises.CONCLUSION: The recommendations for asthma management are significantly integrated into clinical practice in Greece, leading to high prevalence of asthma control.

Motor and cognitive combined control system for upper limb robot assisted rehabilitation after stroke

Question: Despite intensive rehabilitation, stroke patients keep neurological impairments limiting their activities of daily living. To improve upper limb (UL) rehabilitation, current guidelines recommend robotic assisted therapy (RAT). To date, RAT relies on assisted-as-needed (AAN) principles. New treatment modalities, combining simultaneous motor and cognitive rehabilitation, aim for better recovery outcomes. Our team developed ROBiGAME, a serious game that simultaneously rehabilitates motor and cognitive functions and continuously regulates game difficulty. Exercise characteristics are continuously adapted according to the patients’ performances during the game. This study investigated whether this dynamic difficulty adjustment is optimal according to neurorehabilitation principles of variable practice and increasing difficulty (using as optimal success rate of 75%). Method: 9 stroke patients were enrolled in a 5-day protocol. Clinical and robot-based assessment (including Fugl-Meyer Assessment (FMA) and Action Research Arm Test (ARAT)) was done during the first two sessions. Then, every participant completed three 30 minutes sessions of RAT playing with ROBiGAME. Initial low level of game difficulty was set to be the same for every participant at the beginning of the first session. Patients’ performance and the serious game’s exercise characteristics were recorded throughout the sessions. Results: Motor difficulty parameters oscillate towards a steady state half-way through the first session (after 10 to 15 exercises) underlying a rapid adaptation of the system to every individual. In addition, mean success rates average 74,55% ±3% indicating an optimal success rate to maintain patients’ motivation. Finally, FMA and ARAT scores strongly correlated to haptic assistance indices (FMA:r=0,95 p<0,001; ARAT: r=0,87 p=0,005) showing that motor difficulty adapts well to the severity of patients’ motor impairment. Conclusions: This study demonstrates that continuous motor difficulty adjustment when using ROBiGAME is adapted to the patients’ degree of impairment and remains optimal throughout treatment. Further investigations on how cognitive parameters influence game difficulty adjustment and arm kinematics indices should be done