The role of GpsB in Staphylococcus aureus cell morphogenesis.

For decades, cells of the Gram-positive bacterial pathogen Staphylococcus aureus were thought to lack a dedicated elongation machinery. However, S. aureus cells were recently shown to elongate before division, in a process that requires a shape elongation division and sporulation (SEDS)/penicillin-binding protein (PBP) pair for peptidoglycan synthesis, consisting of the glycosyltransferase RodA and the transpeptidase PBP3. In ovococci and rod-shaped bacteria, the elongation machinery, or elongasome, is composed of various proteins besides a dedicated SEDS/PBP pair. To identify proteins required for S. aureus elongation, we screened the Nebraska Transposon Mutant Library, which contains transposon mutants in virtually all non-essential staphylococcal genes, for mutants with modified cell shape. We confirmed the roles of RodA/PBP3 in S. aureus elongation and identified GpsB, SsaA, and RodZ as additional proteins involved in this process. The gpsB mutant showed the strongest phenotype, mediated by the partial delocalization from the division septum of PBP2 and PBP4, two penicillin-binding proteins that synthesize and cross-link peptidoglycan. Increased levels of these PBPs at the cell periphery versus the septum result in higher levels of peptidoglycan insertion/crosslinking throughout the entire cell, possibly overriding the RodA/PBP3-mediated peptidoglycan synthesis at the outer edge of the septum and/or increasing stiffness of the peripheral wall, impairing elongation. Consequently, in the absence of GpsB, S. aureus cells become more spherical. We propose that GpsB has a role in the spatio-temporal regulation of PBP2 and PBP4 at the septum versus cell periphery, contributing to the maintenance of the correct cell morphology in S. aureus. IMPORTANCE: Staphylococcus aureus is a Gram-positive clinical pathogen, which is currently the second cause of death by antibiotic-resistant infections worldwide. For decades, S. aureus cells were thought to be spherical and lack the ability to undergo elongation. However, super-resolution microscopy techniques allowed us to observe the minor morphological changes that occur during the cell cycle of this pathogen, including cell elongation. S. aureus elongation is not required for normal growth in laboratory conditions. However, it seems to be essential in the context of some infections, such as osteomyelitis, during which S. aureus cells apparently elongate to invade small channels in the bones. In this work, we uncovered new determinants required for S. aureus cell elongation. In particular, we show that GpsB has an important role in the spatio-temporal regulation of PBP2 and PBP4, two proteins involved in peptidoglycan synthesis, contributing to the maintenance of the correct cell morphology in S. aureus.

Danger Zones of the Gluteal Anatomy: Improving the Safety Profile of the Gluteal Fat Grafting.

INTRODUCTION: Knowledge of the vascular anatomy is critical to performing safe gluteal surgery. To date, only the course of the main blood vessels within the muscles has been outlined. These findings are based on MRI and CTA images that do not conform to a topographically standardized and normalized probability distribution. OBJECTIVES: The aim of this study was to develop a three-dimensional mapping of the gluteal zones of high vascular density in relation to anatomical landmarks. MATERIALS AND METHODS: This single-center retrospective cohort analysis comprised all consecutive patients who underwent cone-beam computed tomography (CBCT) scans between January 2016 and October 2021. The location of blood vessels in the gluteal region was allometrically normalized in relation to anatomical landmarks. Moreover, the caliber and area of the blood vessels were assessed. RESULTS: CBCT scans of 32 patients with an average age of 64 ± 12 years (range 34-87 years) were included. Fifty-three percent were female. The median [IQR] caliber of the intramuscular gluteal vessels was 1.47 [1.15-1.88] mm, significantly greater than that of the subcutaneous vessels 1.09 [0.72-1.44] mm (p < 0.001). Vascular density was higher intramuscularly, as 4.5% of the area of the muscle was occupied by blood vessels, as opposed to 0.3% in the adipose tissue. CONCLUSION: The analysis of the CBCT scans showed a higher vascular density and larger vessels intramuscularly. We, therefore, recommend the injection of autologous fat merely to the subcutaneous plane. LEVEL OF EVIDENCE II: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

Enhanced Recovery After Surgery (ERAS) Pathways for Aesthetic Breast Surgery: A Prospective Cohort Study on Patient-Reported Outcomes.

BACKGROUND: Patients' expectations of an anticipated timeline of recovery and fear of anesthesia in aesthetic breast surgery have not been studied. OBJECTIVE: This study aims to assess patient anxiety, expectations, and satisfaction after Enhanced Recovery after Surgery (ERAS) pathways for aesthetic breast surgery and the progress of postoperative recovery. MATERIALS AND METHODS: All consecutive patients who underwent aesthetic breast surgery between April 2021 and August 2022 were included in this single-center prospective cohort study. The ERAS protocol consists of more than 20 individual measures in the pre-, intra-, and postoperative period. Epidemiological data, expectations, and recovery were systematically assessed with standardized self-assessment questionnaires, including the International Pain Outcome Questionnaire (IPO), the BREAST-Q or BODY-Q, and data collection forms. RESULTS: In total, 48 patients with a median of 30 years of age were included. Patients returned to most daily activities within 5 days. Eighty-eight percent of patients were able to accomplish daily activities sooner than expected. The time of return to normal daily activities was similar across all procedure types. There was no statistically significant difference regarding postoperative satisfaction between patients who recovered slower (12%) and patients who recovered as fast or faster (88%) than anticipated (p=0.180). Patients reporting fear of anesthesia in the form of conscious sedation significantly diminished from 17 to 4% postoperatively (p<0.001). CONCLUSION: Enhanced Recovery after Surgery (ERAS) pathways for aesthetic breast surgery are associated with rapid recovery and high patient satisfaction. This survey study provides valuable insight into patients' concerns and perspectives that may be implemented in patient education and consultations to improve patient satisfaction following aesthetic treatments. LEVEL OF EVIDENCE IV: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

Perinatal Renal Vein Thrombosis: Role of Imaging in the Initial Diagnosis.

We report the case of a neonate who presented with a left abdominal flank mass and hemodynamic instability signs, with the final diagnosis of left renal vein thrombosis complicated with inferior vena cava thrombosis and perirenal hematoma. We illustrate the importance of an early imaging approach with ultrasound and Doppler evaluation to finally diagnose perinatal renal vein thrombosis and its complications. Teaching Point: An early imaging approach with ultrasound and Doppler evaluation is fundamental to finally diagnose perinatal renal vein thrombosis and its complications.

Adapting to Climate Change with Opuntia.

Adapting our food production chain and increasing the flora and fauna's livelihood in climate change-affected areas using Opuntia is not only theoretical but already exists in practice in many places. This cactus grows in unsuitable soil for most species as it is adapted to arid and semi-arid soils and hot weather. In these regions, Opuntia protects from erosion and contributes to soil health. The usage of this plant as fodder is also discussed, with immense potential in substituting a part of livestock's diet and even increasing the quality of the animal's by-products and decreasing water consumption. This would result in a feed that is low-cost and has a lower environmental impact. It is to be noted that Opuntia has a high potential as an invasive species, with caution always being recommended when dealing with this specie. The high content of specific compounds, such as proline, indicaxanthin, and betanin, found in Opuntia ficus-indica, influence the plant's adaptation to unfavourable conditions. This collective evidence depicts Opuntia as a crop that can battle climate change and ensure food security.

Photobiomodulation does not provide incremental benefits to patients with knee osteoarthritis who receive a strengthening exercises program: a randomized controlled trial.

BACKGROUND: There is lack of agreement in the literature about the effectiveness of photobiomodulation (PBM) for reducing pain-related symptoms in patients with knee osteoarthritis (OA). OBJECTIVE: To evaluate whether PBM, when combined to exercises, provides incremental therapeutic benefits for pain, physical function, and quality of life (QoL) in patients with knee OA. METHODS: A six-month double-blind placebo-controlled randomized trial was conducted. Patients with knee OA were randomly assigned to one of three treatment groups: Exercise, Exercise plus Active PBM, or Exercise plus Placebo PBM. Treatment was provided over an eight-week period, three times per week. The primary outcomes were pain at rest and upon movement, assessed by a visual analogue scale (VAS). WOMAC global score, QoL, and a core-set of performance-based tests were measured as secondary outcomes. All outcomes were collected at baseline, immediately after treatment, and after three- and six-month post-treatment. RESULTS: 127 participants were allocated as follows: Exercise, N = 41; Exercise plus Active PBM, N = 44; and Exercise plus Placebo PBM, N = 42. There was no between-groups difference in improvement in pain, physical function, and QoL for all follow-up times. However, all groups presented significant, clinically relevant improvements in pain, physical function, and QoL immediately and three months after treatment compared with baseline measures. CONCLUSION: Patients with knee OA who received a strengthening exercises program did not experience incremental benefits regarding pain, physical function, or QoL when adding PBM to their therapeutic exercises.

[Multiple Myeloma Treatment Guidelines by the Portuguese Group of Multiple Myeloma]. / Recomendações do Grupo Português do Mieloma Múltiplo para Tratamento do Mieloma Múltiplo.

The treatment of multiple myeloma has profoundly changed with the introduction of several innovative therapies. The optimization of therapeutic sequencing through the combined use of the various drugs developed in recent years and the attention given to the characteristics of patients have allowed the reduction of toxicities and increased survival and quality of life of patients with multiple myeloma. These treatment recommendations from the Portuguese Multiple Myeloma Group offer guidance for first-line treatment and progression/relapse situations. These recommendations are given highlighting the data that justify each choice and referring to the respective levels of evidence that support these options. Whenever possible, the respective national regulatory framework is presented. These recommendations constitute an advance towards the best treatment of multiple myeloma in Portugal.

O tratamento do mieloma múltiplo tem sido amplamente alterado com introdução de várias terapêuticas inovadoras. A otimização da sequenciação terapêutica através do uso combinado dos vários fármacos desenvolvidos nos últimos anos e a atenção dada às características dos doentes têm permitido diminuir toxicidades e aumentar a sobrevivência dos doentes, bem como aumentar a sua qualidade de vida. As presentes recomendações terapêuticas do Grupo Português do Mieloma Múltiplo oferecem orientações para o tratamento de primeira linha e progressão/recaída. As recomendações são fundamentadas evidenciando os dados que justificam cada escolha e referindo os respetivos níveis de evidência que suportam essas opções. Sempre que possível é apresentado o respetivo enquadramento regulamentar nacional. Estas recomendações constituem um avanço para o melhor tratamento do mieloma múltiplo em Portugal.

Quantification of Facial Fat Compartment Variations: A Three-Dimensional Morphometric Analysis of the Cheek.

BACKGROUND: Cheek contour is a main determinant of facial attractiveness. The aim of this study was to evaluate the relationship between age, sex, and body mass index (BMI) and cheek fat volume in a large cohort to better understand and treat facial aging. METHODS: The authors performed a retrospective review of the archives of the Department of Diagnostic and Interventional Radiology, University Hospital of Tübingen. Epidemiologic data and medical history were assessed. Cheek superficial and deep fat compartment volumes were measured on magnetic resonance images. Statistical analyses were performed using SPSS and SAS statistical software. RESULTS: A total of 87 patients with a mean age of 46 years (range, 18 to 81 years) were included. The superficial and deep fat compartment volumes of the cheek increased with BMI ( P < 0.001 and P = 0.005), but there was no significant relationship between age and volume. The ratio of superficial versus deep fat did not change with age. No significant difference of the superficial or deep fat compartments was found between men and women in a regression analysis ( P = 0.931 and P = 0.057). CONCLUSIONS: Cheek fat volume measurements on magnetic resonance imaging scans using reconstruction software suggest that the fat volume of the cheek increases with BMI but does not change significantly with age. Further studies are needed to elucidate the role of age-related changes of bone structures or sagging of the fat compartments.

Brazilian registry of patients with porphyria: REBRAPPO study.

BACKGROUND: Porphyrias are a rare group of disease due to inherited defects of heme synthesis with important systemic manifestations and great burden of disease for patients and families due to the exceptional course of disease with disabling chronic symptoms interposed by life-threatening acute attacks. Unfortunately, the porphyrias are usually underrecognized reflecting a lack of medical and disease awareness as well as few studies about natural history in large cohorts of patients. The main aim of this article is present consistent data about natural history and burden of disease in a large Brazilian cohort. METHODS: We conducted a national cross-sectional registry with retrospective clinical data of Brazilian patients with porphyria collected with Brazilian patients Association with Porphyria in collaboration with a tertiary care center for rare diseases. RESULTS: A cohort of 172 patients was analyzed in which 148 (86%) patients had the diagnosis of acute hepatic porphyria [AHP] that needed a mean of 62.04 medical visits and 9.6 years to achieve a definitive diagnosis. About AHP cohort, the most common first clinical manifestation were abdominal pain in 77 (52%) patients and acute muscle weakness in 23 (15.5%) with 73 (49.3%) patients presenting only one attack during disease course and 37 (25%) exhibiting 4 or more attacks in the last year. Of note, 105 patients with AHP reported chronic manifestations and the scores for quality of life are lower when compared with general healthy population. CONCLUSIONS: Brazilian patients with AHP had a higher prevalence of chronic disabling manifestations and a poor quality of life like other cohorts and a higher proportion of patients with recurrent attacks than previously reported.

Enhanced Recovery After Aesthetic Breast Surgery Under Sedation, Intercostal Block and Tumescent Anaesthesia: A Prospective Cohort Study of the Early Postoperative Phase.

BACKGROUND: Comfort and recovery are major concerns of patients seeking aesthetic surgery. This study aimed to assess postoperative pain and recovery after outpatient breast surgery under sedation, intercostal block, and local anaesthesia. METHODS: This prospective cohort study included all consecutive patients who underwent aesthetic breast surgery between April 2021 and August 2022. Epidemiological data, anaesthesia, pain, and patients' satisfaction were systematically assessed with standardized self-assessment questionnaires. RESULTS: Altogether, 48 patients [median (IQR) age: 30 (36-25)] were included. The most frequent surgery was mastopexy. 69% of surgeries involved additional procedures. The mean intercostal block and local anaesthesia time was 15 min. Patients received a median (IQR) of 19 (34-2) mg/kg lidocaine and 2.3 (2.5-2.0) mg/kg ropivacaine. The median (IQR) consumption of propofol and alfentanil was, respectively, 4.89 (5.48-4.26) mg/kg/h and 0.27 (0.39-0.19) µg/kg/min. No conversion to general anaesthesia or unplanned hospital admission occurred. Patients were discharged after a median (IQR) of 2:40 (3:43-1:58) hours. Within the first 24 postoperative hours, 17% required once an antiemetic medication and 38% an opioid. Patients were very satisfied with the anaesthesia and 90% of the patients had not wished more analgesia in the first 24 h. CONCLUSIONS: Aesthetic breast surgery under sedation, intercostal block, and tumescent anaesthesia can safely be performed as an ambulatory procedure and is associated with minimal intra- and postoperative opioid consumption and high patient satisfaction. These data may be used to inform patients and clinicians and improve the overall quality of care. LEVEL OF EVIDENCE IV: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

Life-threatening hypereosinophilic syndrome in a patient with rheumatoid arthritis: a case report.

Hypereosinophilia is unusual in rheumatoid arthritis (RA), but can occur in severe long-lasting disease, especially in patients with extra-articular manifestations and high titers of rheumatoid factor (RF). The association of RA and hypereosinophilic syndrome (HES) remains yet poorly known. We present a case of a 46 years old woman with long-standing untreated RA, that presented to emergency department with severe symptoms of constrictive pericarditis with cardiac tamponade and bilateral pleural effusion, that progressed to cardiac arrest, associated to symmetrical polyarthritis and pruritic erythematous skin papules. She was submitted to urgent pericardial drainage and partial pericardiotomy. Laboratory analyses revealed hypereosinophilia, and elevated inflammatory parameters and immunoglobulin E. The histological study of the pericardium showed results consistent with inflammatory fibrinous pericarditis. Taking into account the presence of some characteristics that are usually present in cases of reactive HES instead of idiopathic HES, and after an intensive diagnostic study, that could rule out other potential causes of secondary HES, the diagnosis of HES associated with RA was made. She started glucocorticoids during hospitalization and methotrexate 15mg per week at the first outpatient rheumatology visit. After 12 weeks of treatment, we considered that she was in clinical and analytical remission, consistently maintaining that after a complete tapering of glucocorticoids. This case illustrates that clinicians should be aware that HES (including severe life-threatening cases) can occur in patients with RA, especially in cases of long-lasting disease with high titters of RF and without treatment, even in the absence of extra-articular features.

Reconstruction of the Fourth Metacarpal Using a Chimeric Medial Femoral Condyle Vascularized Osteochondral Cutaneous Graft: Case Report.

BACKGROUND: The medial femoral condyle has become a matter of great interest, thanks to the possibility of harvesting versatile chimeric flaps for reconstruction of metacarpal defects with minimal donor site morbidity. This case stands out because of the complete reconstruction of the metacarpal head, harvesting with a skin paddle for tension-free closure and monitoring, and the use of external fixation for better predictability of the reconstruction and early postoperative mobilization. CASE PRESENTATION: We report the case of a 20-year-old male patient who presented with an aneurysmal bone cyst involving the fourth metacarpal bone. The patient underwent resection en bloc of the metaphysis and distal epiphysis of the fourth metacarpal bone, and the bone defect was reconstructed using a 3.4-cm vascularized osteochondral cutaneous graft from the medial femoral condyle. RESULTS: At 1-year follow-up, the patient showed no impairment in hand range of motion and had a Disabilities of Arm, Shoulder and Hand score inferior to that of the male healthy population. Almost 5 years after the procedure, the radiographic examination did not reveal signs of arthrosis. This case report shows that the medial femoral condyle is an excellent and versatile source of vascularized osteochondral grafts for reconstruction of metacarpal defects.

Superabsorbent wound dressings versus foams dressings for the management of moderate-to-highly exuding venous leg ulcers in French settings: An early stage model-based economic evaluation.

Venous leg ulcers (VLUs) are the most common hard-to-heal ulcers associated with the high humanistic and economic burden. Especially clinically challenging are moderate-to-highly exuding venous leg ulcers, and current management guidelines recommend several different wound dressings for this indication. The study aimed to determine the cost-effectiveness of managing moderate-to-highly exuding venous leg ulcers with superabsorbent wound dressings versus foams dressings in French settings from Haute Autorité de Santé perspective. For evidence synthesis decision-analytic model was developed in line with international and French good modelling practices recommendations. All model inputs were informed by data identified through systematic literature reviews that, in our best knowledge, represent the best available evidence at this moment. According to the prediction from this early stage health economic evaluation, using superabsorbent wound dressings versus foam dressings mix in patients with moderate-to-highly exuding leg ulcers in French settings will result in an improved healing rate of 2.58%, incremental HRQoL of 0.143 QALWs and total direct cost savings of € 435 (USD 473) per patient over six months period. The clinical outcomes results from this evaluation are in line with management guidelines that have recommended superabsorbent wound dressings as a first-line choice in the therapy of moderate-to-highly exuding venous leg ulcers. In addition, this evaluation demonstrates that using superabsorbent wound dressings will also lead to economic savings from the Haute Autorité de Santé perspective.

Rapidly involuting congenital haemangioma: diagnostic and therapeutic approach regarding two case reports.

Two unrelated neonates were born with a large purplish congenital mass of the thigh and forearm. Both showed signs of heart dysfunction, and one of them had anaemia and thrombocytopenia. The imaging assessment of the lesions showed well-defined subcutaneous solid masses with an exuberant vascular component. Both were kept under surveillance and maintenance therapy. A progressive dimensional reduction of the lesions supported the diagnosis of rapidly involuting congenital haemangioma (RICH). RICH is a rare vascular tumour that presents as a congenital purplish bulky mass. The diagnosis depends on the clinical evaluation of the lesion and the imaging characterisation of its solid components and vascular network. RICH may be complicated by high-output heart failure, anaemia and thrombocytopenia. Despite its exuberant presentation, it undergoes involution in the first year of life; therefore, early invasive therapies should be avoided. It is essential to detect any dimensional increase, suggesting more aggressive diagnoses, such as kaposiform haemangioendothelioma.

AzoresDiab model: the risk prediction of type 2 diabetes in the Azores.

INTRODUCTION: The incidence of type 2 diabetes mellitus is increasing in the Azores. The Azorean population has unique health-related characteristics that emphasize the necessity of developing a predictive model, namely the double insularity phenomena and consanguinity marriages. Therefore, the authors aimed to develop a model, the AzoresDiab model, that assesses the risk of type 2 diabetes for residents of the Azores. METHODS: The variables used for developing the model included the history of cardiovascular disease, hypertension, sex, body mass index, triacylglycerol level, glucose level, and age. This model was developed using binary logistic regression wherein the dependent variable was considered 0 if the patient had type 2 diabetes and 1 if the patient did not. The sample comprised 6834 individuals who were Azores residents, aged over 18 years and who were not missing values for the covariates under study; individuals were included regardless of whether they had a previous diagnosis of type 2 diabetes. Participants were considered to have type 2 diabetes if they had been previously diagnosed with type 2 diabetes or had been prescribed at least one antidiabetic drug listed in the norms of the Portuguese General Directorate of Health and the Portuguese Medical Association. RESULTS: This model showed an area under the receiver operating characteristic curve of 0.863 based on internal validation performed with bootstrapping. CONCLUSION: The AzoresDiab model exhibited excellent discrimination of patients with and without type 2 diabetes. The use of predictive risk models will enable the early implementation of disease prevention programs in medium- and high-risk individuals, and public health policies to prevent the onset of the disease in these populations.

An e-Learning Program for Physiotherapists to Manage Knee Osteoarthritis Via Telehealth During the COVID-19 Pandemic: Real-World Evaluation Study Using Registration and Survey Data.

BACKGROUND: The COVID-19 pandemic necessitated clinicians to transition to telehealth, often with little preparation or training. The Physiotherapy Exercise and Physical Activity for Knee Osteoarthritis (PEAK) e-learning modules were developed to upskill physiotherapists in management of knee osteoarthritis (OA) via telehealth and in-person. In the research setting, the e-learning modules are perceived by physiotherapists as effective when they are part of a comprehensive training program for a clinical trial. However, the effectiveness of the modules on their own in a real-world setting is unknown. OBJECTIVE: This study aims to evaluate the reach, effectiveness, adoption, and implementation of PEAK e-learning modules. METHODS: This longitudinal study was informed by the Reach, Effectiveness, Adoption, Implementation, and Maintenance (RE-AIM) framework. Participants were clinicians, researchers, educators, and health care students who registered for access to the modules between April 1 and November 30, 2020. Reach was evaluated by outcomes (countries, referral sources, and attrition) extracted from registration data and embedded within precourse surveys in the Learning Management System (LMS). Effectiveness was evaluated by outcomes (confidence with videoconferencing; likelihood of using education, strengthening exercise, and physical activity in a treatment plan for knee OA; usefulness of modules) measured using a 10-point numeric rating scale (NRS; score range from 1=not confident or likely or useful at all to 10=extremely confident or likely or useful) in pre- and postcourse (on completion) surveys in the LMS. Adoption and implementation were evaluated by demographic and professional characteristics and outcomes related to the use of learning and usefulness of program elements (measured via a 4-point Likert scale, from not at all useful to extremely useful) in a survey administered 4 months after module completion. RESULTS: Broad reach was achieved, with 6720 people from 97 countries registering for access. Among registrants, there were high levels of attrition, with 36.65% (2463/6720) commencing the program and precourse survey and 19.61% (1318/6720) completing all modules and the postcourse survey. The program was effective. Learners who completed the modules demonstrated increased confidence with videoconferencing (mean change 3.1, 95% CI 3.0-3.3 NRS units) and increased likelihood of using education, strengthening and physical activity in a knee OA treatment plan, compared to precourse. Adoption and implementation of learning (n=149 respondents) occurred at 4 months. More than half of the respondents used their learning to structure in-person consultations with patients (80/142, 56.3%) and patient information booklets in their clinical practice (75/142, 52.8%). CONCLUSIONS: Findings provide evidence of the reach and effectiveness of an asynchronous self-directed e-learning program in a real-world setting among physiotherapists. The e-learning modules offer clinicians an accessible educational course to learn about best-practice knee OA management, including telehealth delivery via videoconferencing. Attrition across the e-learning program highlights the challenges of keeping learners engaged in self-directed web-based learning.

Progressive spastic tetraplegia and axial hypotonia (STAHP) due to SOD1 deficiency: is it really a new entity?

BACKGROUND: Amyotrophic Lateral Sclerosis (ALS) is a rare, progressive, and fatal neurodegenerative disease due to upper and lower motor neuron involvement with symptoms classically occurring in adulthood with an increasing recognition of juvenile presentations and childhood neurodegenerative disorders caused by genetic variants in genes related to Amyotrophic Lateral Sclerosis. The main objective of this study is detail clinical, radiological, neurophysiological, and genetic findings of a Brazilian cohort of patients with a recent described condition known as Spastic Tetraplegia and Axial Hypotonia (STAHP) due to SOD1 deficiency and compare with other cases described in the literature and discuss whether the clinical picture related to SOD1 protein deficiency is a new entity or may be represent a very early-onset form of Amyotrophic Lateral Sclerosis. METHODS: We conducted a case series report which included retrospective data from five Brazilian patients with SOD1 protein deficiency of a Brazilian reference center for Neuromuscular Disorders. Clinical data were obtained from a review of the medical records and descriptive statistics and variables were summarized using counts and percentages of the total population. RESULTS: All 5 patients presented with a childhood-onset neurodegenerative disorders characterized by spastic tetraplegia with axial hypotonia in all cases, with gestational history showing polyhydramnios in 4/5 and intrauterine growth restriction in 3/5 patients, with most patients initially presenting a normal motor development until the six month of life or during the first year followed by a rapidly progressive motor decline with severe dysphagia and respiratory insufficiency in all patients accompanied by cognitive impairment in 3/5 patients. All patients were homozygous for the c.335dupG (p.Cys112Trpfs*11) mutation in the SOD1 gene with completely decreased enzyme activity. CONCLUSIONS: This case series is the biggest data collection of the new recent clinical entity described as Spastic Tetraplegia and Axial Hypotonia (STAHP) due to SOD1 deficiency.

The UTrack framework for segmenting and measuring dermatological ulcers through telemedicine.

Chronic dermatological ulcers cause great discomfort to patients, and while monitoring the size of wounds over time provides significant clues about the healing evolution and the clinical condition of patients, the lack of practical applications in existing studies impairs users' access to appropriate treatment and diagnosis methods. We propose the UTrack framework to help with the acquisition of photos, the segmentation and measurement of wounds, the storage of photos and symptoms, and the visualization of the evolution of ulcer healing. UTrack-App is a mobile app for the framework, which processes images taken by standard mobile device cameras without specialized equipment and stores all data locally. The user manually delineates the regions of the wound and the measurement object, and the tool uses the proposed UTrack-Seg segmentation method to segment them. UTrack-App also allows users to manually input a unit of measurement (centimeter or inch) in the image to improve the wound area estimation. Experiments show that UTrack-Seg outperforms its state-of-the-art competitors in ulcer segmentation tasks, improving F-Measure by up to 82.5% when compared to superpixel-based approaches and up to 19% when compared to Deep Learning ones. The method is unsupervised, and it semi-automatically segments real-world images with 0.9 of F-Measure, on average. The automatic measurement outperformed the manual process in three out of five different rulers. UTrack-App takes at most 30 s to perform all evaluation steps over high-resolution images, thus being well-suited to analyze ulcers using standard mobile devices.

Computer photogrammetry as a postural assessment in Schwartz-Jampel syndrome: A case report.

The Schwartz-Jampel Syndrome (SJS) is a rare genetic disorder characterized by myotonia and bone dysplasia, which may change the posture. The subject of this case report was a seven-year-old boy diagnosed with SJS and presenting generalized muscle and joints contractures. The purpose of the present case report was to identify postural asymmetries in a patient with SJS through photogrammetry. Postural analysis was conducted using photogrammetry with the Postural Assessment Software (SAPO®). Photogrammetry is a postural assessment system performed through photographic images. These images are acquired by camera and transported to the computer. SAPO® software performs the assessment of this photograph throughout 3D analysis and compares with a predefined protocol. The results of the present case report document several recurrent postural imbalances seen in SJS including myotonia, facial dysmorphism, and skeletal deformities. Thus, even with little evidence in the literature, physical therapy treatment is indicated to increase the functionality of the individual.

Household transmission of SARS-CoV-2 (COVID-19) in Lima, Peru. / Transmisión intra-hogar en personas infectadas por SARS-CoV-2 (COVID-19) en Lima, Perú.

The study aimed to describe the characteristics of SARS-CoV-2 transmission among members of households with a confirmed primary case of COVID-19 in districts with low burden of cases in Lima, Peru, compared to a district with high burden. This was a retrospective study with a secondary database review. Information was collected from an epidemiological surveillance activity in close contacts (household members) in 52 households in Lima, with a single member with COVID-19. Reevaluation was conducted in 10 households. The study evaluated epidemiological and clinical variables and their association with the result of the rapid serological test (presence of IgG, IgM, or both). Secondary cases were found in 40 households, representing mean identification of 49.9% per household. Secondary attack rate in household members was 53% (125 cases), and symptomatic individuals accounted for 77.6% of cases (symptomatic/asymptomatic ratio: 3.5). Presence of fever and/or chills was found in 40% of persons with positive test results, followed by sore throat with 39.2%. Ageusia and anosmia were present in 22.4% and 20.8% of cases, respectively. When there was a primary case of COVID-19 in the household, the secondary attack rate was 53%; however, in an important proportion of households there were no positive cases other than the primary case. The epidemiological and clinical findings were consistent with reports from other international series.

El objetivo fue describir las características de la infección por SARS-CoV-2 entre miembros de hogares, con un caso confirmado primario de COVID-19, en distritos de baja carga de casos en Lima, Perú, en comparación con un distrito de alta carga. Estudio retrospectivo de revisión de base de datos secundaria. Se recolectó información proveniente de una actividad de vigilancia epidemiológica en contactos cercanos (cohabitantes), en 52 hogares de Lima, con un solo miembro con COVID-19. En 10 hogares se realizó una reevaluación. Se evaluaron variables epidemiológicas y clínicas; y su asociación con el resultado a la prueba serológica rápida (presencia de IgG, IgM o ambas). En 40 hogares se encontraron casos secundarios, lo que representa un 49,9% de identificación en promedio por hogar. Se encontró una tasa de ataque secundaria entre cohabitantes de 53% (125 casos), siendo sintomáticos un 77,6% de casos (razón sintomáticos/asintomáticos: 3,5). La presencia de fiebre y/o escalofríos se encontró en el 40% de las personas con resultado positivo, seguido del dolor de garganta en el 39,2%. La ageusia y anosmia estuvieron presentes en el 22,4% y 20,8% de los casos, respectivamente. Al tener un caso primario de COVID-19 en el hogar, la tasa de ataque secundaria de esta infección es de 53%; sin embargo, en una proporción importante de hogares evaluados no hubo un caso positivo, más allá del caso primario. Las características epidemiológicas y clínicas encontradas en este caso estuvieron acorde a lo ya reportado en otras series internacionales.

O objetivo foi descrever as características da infecção por SARS-CoV-2 entre os membros de domicílios, com um caso primário confirmado de COVID-19, em distritos com baixa carga de casos em Lima, Peru, em comparação com um distrito com alta carga. Estudo retrospectivo de revisão de banco de dados secundário. As informações foram coletadas em uma atividade de vigilância epidemiológica em contatos próximos (coabitantes), em 52 domicílios em Lima, com um único membro com COVID-19. Foi realizada uma reavaliação em 10 domicílios. Variáveis ​​epidemiológicas e clínicas foram avaliadas; e sua associação com o resultado do teste sorológico rápido (presença de IgG, IgM ou ambos). Os casos secundários foram encontrados em 40 domicílios, representando uma taxa média de identificação de 49,9% por domicílio. Foi encontrada uma taxa de ataque secundário entre coabitantes de 53% (125 casos), com 77,6% dos casos sendo sintomáticos (relação sintomático/assintomático: 3,5). A presença de febre e/ou calafrios foi encontrada em 40% das pessoas com resultado positivo, seguida de dor de garganta em 39,2%. Ageusia e anosmia estiveram presentes em 22,4% e 20,8% dos casos, respectivamente. Quando há um caso primário de COVID-19 em casa, a taxa de ataque secundário para essa infecção é de 53%; No entanto, em uma proporção significativa dos domicílios avaliados não houve caso positivo, além do caso primário. As características epidemiológicas e clínicas encontradas neste caso foram consistentes com o que já foi relatado em outras séries internacionais.