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Background: Ulnar nerve compression at the elbow is the second most common compressive neuropathy of the upper extremity. We hypothesize that tension on the ulnar nerve produced by elbow flexion and distraction contributes to this condition. We measured ulnar nerve tension generated during elbow flexion and proportional distraction to evaluate locations of soft tissue constraints to nerve translation. Methods: Eight fresh-frozen upper limb specimens were tested. Each specimen included the proximal humeral shaft to the wrist. The ulnar nerve was dissected proximally and clamped to the humerus 8 âcm proximal to the medial epicondyle. At 8 âcm distal to the medial epicondyle, the ulnar nerve was dissected and clamped distally to a load cell that was mounted on a laboratory stand. A stage on the stand could be translated distally to apply load. Soft tissue was removed distal to the load cell clamp; all soft tissue from the load cell to the proximal humeral clamp was left intact.We measured the tension generated on the nerve throughout the full arc of elbow flexion with additional distal distractions of 0%, 2.5% and 5% of nerve length applied by distal translation of the stage on the lab stand. We then repeated these steps with the nerve unclamped proximally. We then excised 1 âcm of soft tissue distally, clamped the nerve 7 âcm distal to the medial epicondyle, and repeated the measurements. We continued this sequential dissection and testing until the nerve was clamped to the load cell 1 âcm distal to the medial epicondyle. Results: Flexion, distraction, and proximal clamping each increased nerve tension. Tension was greatest at 4, 5, and 6 âcm distal to the medial epicondyle (p â< â0.01). Conclusion: Flexion, distraction, and proximal clamping each increased ulnar nerve tension. The greatest ulnar nerve tension was recorded between 4 and 6 âcm distal to the medial epicondyle.
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Widespread screening for hepatitis C virus (HCV) is necessary for Canada to meet its HCV elimination goals by 2030. People who currently or previously injected drugs are at high risk for HCV. Opioid agonist therapy (OAT, such as methadone and buprenorphine) has been shown to help stabilize the lives of people who are opioid-dependent. The distribution of OAT in North America typically requires daily, weekly, or monthly clinic visits and presents an opportunity for engagement, screening and treatment for those at high-risk of HCV. In this study, HCV screening was conducted by staff at OAT clinics in Ontario from 2016 to 2020 and those with chronic infections were treated on-site with direct-acting antivirals. Point-of-care or dried blood spot (DBS) testing was used for antibodies, DBS or serum for HCV RNA and serum for HCV RNA at SVR12 (sustained virological response). Clinics screened 1954 people (mean age 40 years ±12, 63% male). Forty-five percent were antibody positive, of whom 64% were HCV RNA+. Eighty percent of those RNA+ set an appointment in which 99% attended. Ninety-six percent started treatment with 87% completing treatment. Sixty-eight percent of people who completed treatment submitted a sample for SVR12 testing of which 97% achieved a virological cure. Results suggest that HCV screening and treatment at OAT clinics is feasible, effective and warrants expansion. Data suggest strong treatment adherence due to high rates of SVR12 comparable with other OAT-based HCV treatment programs. The lack of SVR12 sampling could be addressed by either on-site phlebotomy or incentivizing SVR12 sampling.
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Hepatite C Crônica , Hepatite C , Abuso de Substâncias por Via Intravenosa , Humanos , Masculino , Adulto , Feminino , Hepacivirus/genética , Analgésicos Opioides/uso terapêutico , Antivirais , Ontário/epidemiologia , Prevalência , Hepatite C Crônica/diagnóstico , Hepatite C Crônica/tratamento farmacológico , Hepatite C Crônica/epidemiologia , Hepatite C/diagnóstico , Hepatite C/tratamento farmacológico , Hepatite C/epidemiologia , RNA , Abuso de Substâncias por Via Intravenosa/complicações , Abuso de Substâncias por Via Intravenosa/epidemiologia , Abuso de Substâncias por Via Intravenosa/tratamento farmacológicoRESUMO
OBJECTIVE: We assessed the accuracy of two portable ultrasound machines (PUM) in obtaining fetal biometry and estimating gestational age. METHODS: We analyzed data from the Fetal Age Machine Learning Initiative, an observational study of pregnant women in the United States and Zambia. Each participant underwent assessment by an experienced sonographer using both a high-specification ultrasound machine (HSUM) and a PUM (either Butterfly iQ or Clarius C3) to measure fetal biometry and calculate estimated gestational age (EGA) at each visit. Through comparison of paired PUM-HSUM scans, we estimated agreement between individual biometry measurements and aggregate gestational age estimates by reporting mean difference, along with intraclass correlation coefficient (ICC) and Bland-Altman plots, adjusting for trend. RESULTS: 881 participants contributed 1386 paired PUM-HSUM ultrasound studies between April and December 2021. PUM studies included 991 Butterfly and 395 Clarius. Gestational age at scan ranged from 7 to 38 weeks. Compared to HSUM, the Butterfly PUM had a mean difference of -0.20 days (95%CI±0.40) in the 1st trimester and -0.68 days (95%CI±0.68) in the 2nd/3rd trimesters. Also compared to HSUM, the Clarius PUM had a mean difference of 0.47 days (95%CI±0.64) in the 1st trimester and -1.67 days (95%CI±0.43) in the 2nd/3rd trimesters. ICCs were 0.989 or greater throughout. Increasing gestational age was associated with increasing error and absolute error. Both PUM devices demonstrated a modest trend toward underestimation of EGA at advancing gestational ages in 2nd/3rd trimester scans, compared to HSUM. CONCLUSION: Both the Butterfly iQ and Clarius C3 PUM devices were highly accurate in performing fetal biometry in a diverse population from the US and Zambia. This article is protected by copyright. All rights reserved.
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Introduction: Proximal tibial plateau fractures are one of the major problems in orthopaedic surgery and are associated with high complication rates. Intra-articular proximal tibia plateau fractures represent approximately 1% of fractures in adults. Various modalities of proximal tibial plateau fracture management have been considered, ranging from simple external fixators in impending compartment syndrome to periarticular proximal tibia plates and inter-locking nails with poller screws. Purpose of this study is to determine clinical outcomes of proximal tibial plateau fractures treated with plate. Materials and methods: We did this study of proximal tibial plateau fracture according to Schatzker's classification treated with proximal tibial periarticular plates in 53 patients prospectively admitted at the author's institute from June 2018 to May 2020 with follow-up period of 6 months. Results: In our study, the average knee score was 89.30 (ranging from 79 to 93) and functional knee score was 97.92 (ranging from 75 to 100). Fifty-one (51) patients (96.23%) showed excellent results and 2 patients (3.77%) showed good results according to Knee Society Score, which suggest that internal fixation of proximal tibia plateau fracture with plating provides better results. Out of 53 patients, 9 patients had post-operative complications. Average radiological union was seen at 14 weeks. Conclusion: Locking compression plate in proximal tibia plateau fractures act as a good biological fixation provide stable fixation, articular reduction and limb alignment even in difficult fracture situations. Fixation of proximal tibia plateau fractures with plate gives excellent to good knee society score, with satisfactory functional and radiological outcome.
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BACKGROUND: Idiopathic scleroma (previously coined solitary idiopathic choroiditis or focal scleral nodule) is an innocuous lesion affecting the sclera with intraocular manifestations. It is often the basis of many misdiagnoses such as amelanotic choroidal melanoma, osteoma or metastatic lesions. Patients are often asymptomatic and the course is benign. With increasing use of community based imaging, more of such cases are being identified. This paper is a retrospective case series investigating the multi-modal imaging findings of idiopathic scleroma. METHODS: A retrospective analysis of prospectively collected data were analysed. Over the course of January 2008-January 2022, 44 patients diagnosed with idiopathic scleroma and imaged with wide-field colour fundus photography, fundus autofluorescence, ocular coherence tomography (OCT) and B-scan ultrasonography. Due to a poor image, only 43 images were included for OCT review. We also reviewed our patient's demographics, symptoms and baseline ophthalmic characteristics upon presentation. RESULTS: The mean age was 52 years (range 32-79) and there was no predilection towards gender. All lesions were post equatorial with the most common location being inferotemporal (n = 16, 36%); 32 lesions (73%) were yellow on fundus photography. 82% (n = 36/44) of lesions exhibited hyperautoflourescence and 43 lesions (98%) showed hyperechogenicity on B-scan ultrasonography. 100% of lesions originated from the sclera with no lesions showing active inflammation. 20 (47%) lesions had associated blood vessels overlying them on OCT. DISCUSSION: Idiopathic scleroma is a yellow, hyperautofluorescent, hyperechogeneic scleral lesion that has no signs of active inflammation. These characteristics help define them from other more sinister cause of amelanotic fundal lesions.
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Doenças da Esclera , Tomografia de Coerência Óptica , Corioidite/diagnóstico por imagem , Doenças da Esclera/diagnóstico por imagem , Humanos , Angiofluoresceinografia , Tomografia de Coerência Óptica/métodos , Estudos Retrospectivos , Inflamação , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Idoso , Imagem ÓpticaRESUMO
OBJECTIVE: Early exposure and mentorship in surgical specialties like otolaryngology - head and neck surgery are critical for medical students. This paper presents initiatives implemented at our institution to engage early-career medical students with the field. METHODS: A hands-on laryngoscope workshop was organised, and a centralised online platform was created for research and mentorship opportunities using a collaborative project management tool. Both measures were advertised via e-mail to student interest groups and campus diversity groups. At the end of the workshop, participating students completed an online distributed survey. RESULTS: Students' perception of their knowledge of airway anatomy and related clinical scenarios significantly improved after the laryngoscopy workshop (p = 0.001 and p = 0.002, respectively). All attendees indicated that the workshop increased their comfort level with procedures and that they would recommend the workshop to colleagues. Nearly half of participants reported becoming 'very interested' in exploring otolaryngology - head and neck surgery through future elective courses. CONCLUSION: Implementation of such initiatives at other institutions can generate medical student interest and may improve diversity in otolaryngology - head and neck surgery.
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Educação de Graduação em Medicina , Otolaringologia , Estudantes de Medicina , Humanos , Otolaringologia/educação , Escolha da ProfissãoRESUMO
AIMS: To achieve expert clinical consensus in the delivery of hydrodilatation for the treatment of primary frozen shoulder to inform clinical practice and the design of an intervention for evaluation. METHODS: We conducted a two-stage, electronic questionnaire-based, modified Delphi survey of shoulder experts in the UK NHS. Round one required positive, negative, or neutral ratings about hydrodilatation. In round two, each participant was reminded of their round one responses and the modal (or 'group') response from all participants. This allowed participants to modify their responses in round two. We proposed respectively mandating or encouraging elements of hydrodilatation with 100% and 90% positive consensus, and respectively disallowing or discouraging with 90% and 80% negative consensus. Other elements would be optional. RESULTS: Between 4 August 2020 and 4 August 2021, shoulder experts from 47 hospitals in the UK completed the study. There were 106 participants (consultant upper limb orthopaedic surgeons, n = 50; consultant radiologists, n = 52; consultant physiotherapist, n = 1; extended scope physiotherapists, n = 3) who completed round one, of whom 97 (92%) completed round two. No elements of hydrodilatation were "mandated" (100% positive rating). Elements that were "encouraged" (≥ 80% positive rating) were the use of image guidance, local anaesthetic, normal saline, and steroids to deliver the injection. Injecting according to patient tolerance, physiotherapy, and home exercises were also "encouraged". No elements were "discouraged" (≥ 80% negative rating) although using hypertonic saline was rated as being "disallowed" (≥ 90% negative rating). CONCLUSION: In the absence of rigorous evidence, our Delphi study allowed us to achieve expert consensus about positive, negative, and neutral ratings of hydrodilatation in the management of frozen shoulder in a hospital setting. This should inform clinical practice and the design of an intervention for evaluation.Cite this article: Bone Jt Open 2022;3(9):701-709.
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BACKGROUND: Here we detail our experience of managing patients found to have a neuroendocrine neoplasm (NEN) whilst on immunosuppression for a transplanted organ. AIM: We aimed to quantify the behaviour of NENs under solid-organ transplant-related immunosuppression. DESIGN: This was an observational, retrospective case series. METHODS: Ten patients were identified from a prospectively kept database. Three were excluded. RESULTS: Four patients received a liver, two a kidney, and one a heart transplant. All but one received calcineurin-based immunosuppression. NENs were found in five patients post-transplant: one had surgery for transverse colonic neuroendocrine carcinoma NEC (pT4N1M0, Ki67 60%), was cancer-free after four years; one had cold biopsy of duodenal NEN (pT1N0M0, Ki67 2%), cancer-free at four months; one 7 mm pancreatic NEN (pT1N0M0), untreated and stable for seven years; one small-bowel NEN with mesenteric metastasis (pTxNxM1), alive four years after diagnosis; and one untreated small-bowel NEN with mesenteric metastasis, stable at 1 year after liver transplantation. Two NENs were discovered pre-transplant, one pancreatic NEN (pT1N0M0, Ki67 5%), remains untreated and stable at three years. One gastric NEN (type 3, pT1bN0M0, Ki67 2%) remains stable without treatment for two years. CONCLUSIONS: NENs demonstrate indolent behaviour in the presence of transplant-related immunosuppression.
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Tumores Neuroendócrinos , Humanos , Tumores Neuroendócrinos/complicações , Tumores Neuroendócrinos/cirurgia , Tumores Neuroendócrinos/patologia , Antígeno Ki-67 , Estudos Retrospectivos , Calcineurina , Terapia de ImunossupressãoRESUMO
BACKGROUND: The coronavirus disease 2019 pandemic created challenges in surgical education that expedited the development of virtual learning. Virtual rotations have been one such solution. However, they require co-ordination and technological equipment to create a meaningful, interactive experience for students. METHODS: Various otolaryngology surgical procedures were live-streamed during a two-week virtual rotation for medical students. A mobile audiovisual cart comprising a computer mounted with a webcam and microphone/speaker were utilised to live-stream from four sources: video-assisted telescope operating monitor ('VITOM') exoscope, microscope, endoscope and room camera. A dedicated faculty member, who was not the operating surgeon, was present to facilitate students' understanding of the procedure. CONCLUSION: A wide breadth of otolaryngology surgical procedures were live-streamed via a mobile audiovisual computer, including views of the room, endoscopic views, microscopic views and open views via an exoscope (video-assisted telescope operating monitor). This virtual rotation set-up, along with the dedicated faculty facilitator, reduced the burden on the operating surgeon and enhanced students' learning experience.
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Educação a Distância , Otolaringologia/educação , Procedimentos Cirúrgicos Otorrinolaringológicos/educação , Webcasts como Assunto , HumanosRESUMO
BACKGROUND: Little literature exists regarding aggressive treatment of the extrusion in the early stage of the disease and the outcome at skeletal maturity. The purpose of the study was to evaluate the outcome of the disease with onset younger than 7 years, treated in the early stage of the disease, with aggressive management of significant extrusion (immediate containment with fixed abduction brace in children less than 5 years and varus derotation osteotomy in older children), and reached skeletal maturity. METHODS: All children with the age of onset younger than 7 years of disease during active Perthes disease were prospectively followed. Children with early stages of the disease (modified Elizabethtown classification) and reached skeletal maturity were included (68 children). The extrusion of the femur head was calculated by Reimer's migration index on both sides. A migration difference 12 % or above was considered as "significant extrusion". Children without significant extrusion were treated non-operatively; children with significant extrusion were treated with varus derotation osteotomy. The final radiological outcome was assessed by the Stulberg classification and sphericity deviation score (SDS). The independent "t" test and Chi-square test were done to compare the difference between the two groups. RESULTS: The mean age at the onset and the final follow-up was 5.7 years and 15.3 years. The frequency of significant extrusion was 57%. At the final follow-up, an excellent clinical outcome and radiological outcomes (in 88% hips) were noted. There was no significant difference in the Stulberg groups and SDS (sphericity deviation score) in both groups. CONCLUSION: The outcome of the children who had the age of onset of the disease less than 7 years was good with early and aggressive management of the extrusion. The reversal of extrusion is associated with a similar result of non-operative children in this age group. LEVEL OF EVIDENCE: III.
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Doença de Legg-Calve-Perthes , Idade de Início , Criança , Cabeça do Fêmur/diagnóstico por imagem , Cabeça do Fêmur/cirurgia , Seguimentos , Articulação do Quadril/cirurgia , Humanos , Doença de Legg-Calve-Perthes/diagnóstico por imagem , Doença de Legg-Calve-Perthes/cirurgia , Resultado do TratamentoRESUMO
Unilateral acquired diaphragmatic paresis is a known complication of thoracic surgeries. Direct mechanical injury to the phrenic nerve during surgery results in this complication. However its occurrence post-percutaneous nephrolithotomy (PCNL) has not been described. We report a 43-year-old man who underwent prone PCNL for endourological management of left complete staghorn calculus. Access via the 10th left intercostal space, under fluoroscopy, was carried out to remove the calculus. Post-operative, the routine chest radiograph revealed left hemidiaphragmatic blunting. Computerized tomography of the chest confirmed left hemidiaphragmatic elevation, suggesting unilateral diaphragmatic paresis. He did not have any respiratory symptoms, was managed conservatively with chest physiotherapy and incentive spirometry and responded extremely well. The absence of reported cases of diaphragmatic paresis post PCNL lends to a dearth in knowledge regarding recognition and management. This case report aims to acquaint urologists with this rare complication associated with supracostal PCNL and provide a rational management plan.
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Doenças do Sistema Digestório , Cálculos Renais , Nefrolitotomia Percutânea , Nefrostomia Percutânea , Adulto , Fluoroscopia , Humanos , Masculino , ParesiaRESUMO
Neuroendocrine neoplasms are known to have heterogeneous biological behavior. G3 neuroendocrine tumours (NET G3) are characterized by well-differentiated morphology and Ki67 > 20%. The prognosis of this disease is understood to be intermediate between NET G2 and neuroendocrine carcinoma (NEC). Clinical management of NET G3 is challenging due to limited data to inform treatment strategies. We describe clinical characteristics, treatment, and outcomes in a large single centre cohort of patients with gastroenteropancreatic NET G3. Data was reviewed from 26 cases managed at Queen Elizabeth Hospital, Birmingham, UK, from 2012 to 2019. Most commonly the site of the primary tumour was unknown and majority of cases with identifiable primaries originated in the GI tract. Majority of cases demonstrated somatostatin receptor avidity. Median Ki67 was 30%, and most cases had stage IV disease at diagnosis. Treatment options included surgery, somatostatin analogs (SSA), and chemotherapy with either platinum-based or temozolomide-based regimens. Estimated progression free survival was 4 months following initiation of SSA and 3 months following initiation of chemotherapy. Disease control was observed following treatment in 5/11 patients treated with chemotherapy. Estimated median survival was 19 months; estimated 1 year survival was 60% and estimated 2 year survival was 13%. NET G3 is a heterogeneous group of tumours and patients which commonly have advanced disease at presentation. Prognosis is typically poor, though select cases may respond to treatment with SSA and/or chemotherapy. Further study is needed to compare efficacy of different treatment strategies for this disease.
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Neoplasias Intestinais/metabolismo , Neoplasias Intestinais/patologia , Antígeno Ki-67/metabolismo , Tumores Neuroendócrinos/metabolismo , Tumores Neuroendócrinos/patologia , Neoplasias Pancreáticas/metabolismo , Neoplasias Pancreáticas/patologia , Neoplasias Gástricas/metabolismo , Neoplasias Gástricas/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Carcinoma Neuroendócrino/tratamento farmacológico , Carcinoma Neuroendócrino/metabolismo , Carcinoma Neuroendócrino/mortalidade , Carcinoma Neuroendócrino/patologia , Feminino , Seguimentos , Humanos , Neoplasias Intestinais/tratamento farmacológico , Neoplasias Intestinais/mortalidade , Estimativa de Kaplan-Meier , Masculino , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Tumores Neuroendócrinos/tratamento farmacológico , Tumores Neuroendócrinos/mortalidade , Neoplasias Pancreáticas/tratamento farmacológico , Neoplasias Pancreáticas/mortalidade , Prognóstico , Intervalo Livre de Progressão , Estudos Retrospectivos , Neoplasias Gástricas/tratamento farmacológico , Neoplasias Gástricas/mortalidade , Adulto JovemRESUMO
We used social network analysis (SNA) to study the novel coronavirus (COVID-19) outbreak in Karnataka, India, and to assess the potential of SNA as a tool for outbreak monitoring and control. We analysed contact tracing data of 1147 COVID-19 positive cases (mean age 34.91 years, 61.99% aged 11-40, 742 males), anonymised and made public by the Karnataka government. Software tools, Cytoscape and Gephi, were used to create SNA graphics and determine network attributes of nodes (cases) and edges (directed links from source to target patients). Outdegree was 1-47 for 199 (17.35%) nodes, and betweenness, 0.5-87 for 89 (7.76%) nodes. Men had higher mean outdegree and women, higher mean betweenness. Delhi was the exogenous source of 17.44% cases. Bangalore city had the highest caseload in the state (229, 20%), but comparatively low cluster formation. Thirty-four (2.96%) 'super-spreaders' (outdegree ⩾ 5) caused 60% of the transmissions. Real-time social network visualisation can allow healthcare administrators to flag evolving hotspots and pinpoint key actors in transmission. Prioritising these areas and individuals for rigorous containment could help minimise resource outlay and potentially achieve a significant reduction in COVID-19 transmission.
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Busca de Comunicante/métodos , Infecções por Coronavirus/epidemiologia , Pneumonia Viral/epidemiologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , COVID-19 , Criança , Pré-Escolar , Controle de Doenças Transmissíveis , Infecções por Coronavirus/prevenção & controle , Feminino , Humanos , Índia/epidemiologia , Lactente , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Pandemias/prevenção & controle , Pneumonia Viral/prevenção & controle , Rede Social , Software , Adulto JovemRESUMO
COVID-19 is an overwhelming pandemic which has shattered the whole world. Lung injury being the main clinical manifestation, it is likely to cause COPD (chronic obstructive pulmonary disease) and ARDS (acute respiratory distress syndrome). The possible cause behind this might be redox imbalance due to viral infection. Elevation in Glutathione (GSH) levels by administration of its promolecule might be effective. N-acetylcysteine is one such drug with potency to scavenge Reactive Oxygen Species, least side effects, and an effective precursor of glutathione. Consequently we hypothesize that N-acetylcysteine along with the conventional treatment may be treated as a potential therapeutic solution in cases of COVID-19 patients.
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Acetilcisteína/uso terapêutico , Tratamento Farmacológico da COVID-19 , Glutationa/metabolismo , Acetilcisteína/química , Antioxidantes/uso terapêutico , Humanos , Oxirredução , Estresse Oxidativo , Doença Pulmonar Obstrutiva Crônica/virologia , Espécies Reativas de Oxigênio/metabolismo , Síndrome do Desconforto Respiratório/tratamento farmacológico , Síndrome do Desconforto Respiratório/virologiaRESUMO
BACKGROUND AND OBJECTIVES: In the visible universe, it is believed that mass and energy are interchangeable. However, the physical and chemical processes in the hidden world put the scientist into the thought of matter and energy contents that are responsible for these phenomena. These are regarded as dark matter and dark energy. In this article, we study the effects of spacetime curvature on the gravitational collapse of dark energy in modified gravity, considering the collapse of the spherically symmetric star, which is composed of perfect and homogeneous fluid. We studied the collapse for closed, flat and hyperbolic geometry. METHOD: As a result of mathematical modeling, we achieved highly non-linear differential equations. For the solution, we needed the assumption of physical significance. Specifically, we have taken the dark energy collapse. Then we achieved a simple system and solved for the analytic solutions of the field equations. RESULTS: It is shown that the possible collapse is visibly influenced by spatial curvature. The collapse time is advanced for closed spacetime, delayed for the hypersurface, and the flat space behaves intermediately. We have taken here the equation of state in linear form to discuss the exhibition of fluid profile and a specific necessary criterion for the occurrence of spacetime singularity. CONCLUSION: In this paper, we study the mathematical model of gravitational collapse in modified gravity, which derives the field equations using the principle of least action. The significant outcomes are the influences of the spatial curvature on the collapsing process and the time of formation of spacetime singularity. The matching of boundary and the fundamental continuity of the 1-form and 2-form are discussed.
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Gravitação , Modelos TeóricosRESUMO
We aimed to review the contributions by Indian researchers to the subspecialty of skeletal dysplasias (SDs). Literature search using specific keywords in PubMed was performed to retrieve all the published literature on SDs as on July 6, 2017. All published literature on SDs wherein at least one author was from an Indian institute was included. Publications were grouped into different categories based on the major emphasis of the research paper. Five hundred and forty publications in English language were retrieved and categorized into five different groups. The publications were categorized as reports based on: (i) phenotypes (n = 437), (ii) mutations (n = 51), (iii) novel genes (n = 9), (iv) therapeutic interventions (n = 31), and (v) reviews (n = 12). Most of the publications were single-patient case reports describing the clinical and radiological features of the patients affected with SDs (n = 352). We enlisted all the significant Indian contributions. We have also highlighted the reports in which Indians have contributed to discovery of new genes and phenotypes. This review highlights the substantial Indian contributions to SD research, which is poised to reach even greater heights given the size and structure of our population, technological advances, and expanding national and international collaborations.
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Bibliometria , Pesquisa Biomédica , Osteocondrodisplasias , Humanos , Índia , EditoraçãoRESUMO
The location and/or type of variants in FLNB result in a spectrum of osteochondrodysplasias ranging from mild forms, like spondylocarpotarsal synostosis syndrome and Larsen syndrome, to severe perinatal lethal forms, such as atelosteogenesis I and III and Boomerang dysplasia. Spondylocarpotarsal synostosis syndrome is characterized by disproportionate short stature, vertebral anomalies and fusion of carpal and tarsal bones. Biallelic loss-of-function variants in FLNB are known to cause spondylocarpotarsal synostosis syndrome and 9 families and 9 pathogenic variants have been reported so far. We report clinical features of 10 additional patients from 7 families with spondylocarpotarsal synostosis syndrome due to 7 novel deleterious variants in FLNB, thus expanding the clinical and molecular repertoire of spondylocarpotarsal synostosis syndrome. Our report validates key clinical (fused thoracic vertebrae and carpal and tarsal coalition) and molecular (truncating variants in FLNB) characteristics of this condition.
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Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Alelos , Filaminas/genética , Variação Genética , Vértebras Lombares/anormalidades , Doenças Musculoesqueléticas/diagnóstico , Doenças Musculoesqueléticas/genética , Escoliose/congênito , Sinostose/diagnóstico , Sinostose/genética , Vértebras Torácicas/anormalidades , Pré-Escolar , Feminino , Genótipo , Humanos , Lactente , Masculino , Linhagem , Fenótipo , Radiografia , Escoliose/diagnóstico , Escoliose/genética , SíndromeRESUMO
BACKGROUND: The aim of this study was to assess the impact of right atrial pressure (Pra) on non-CTO vessels FFR measurements in patients with a chronic total occlusion. METHODS: Consecutive patients who underwent PCI for a CTO of the right coronary artery (RCA) were included. Prior to RCA recanalization, FFR and FFRmyo were measured in non-CTO vessels. FFR was calculated using the Pd/Pa equation during maximum hyperaemia and also accounting for right atrial pressure (Pd-Pra/Pa-Pra). Non-CTO vessels were characterised as major or minor donors based on angiographic assessment of provided collaterals. RESULTS: FFR and FFRmyo were measured in 68 arteries (34 LAD and 34 Cx) in 34 consecutive patients with successful RCA CTO PCI. Patients' mean age was 62⯱â¯10â¯years old and 88% were male. Mean left ventricular ejection fraction was 51%⯱â¯20. During maximum hyperaemia, mean Pra, Pa, and Pd were 4.1⯱â¯3.8â¯mmâ¯Hg, 82.6⯱â¯12.2â¯mmâ¯Hg, and 63.8⯱â¯14.3â¯mmâ¯Hg, respectively. In the major donor vessel, FFRmyo showed a difference of 0.007 to FFR (0.760⯱â¯0.113 vs. 0.767⯱â¯0.112, pâ¯=â¯0.004). In the minor donor vessel the difference was 0.004 (0.895⯱â¯0.067 vs. 0.899⯱â¯0.065, pâ¯<â¯0.001). There was a strong positive correlation between the FFR and FFRmyo in both the major and minor donor vessel groups (râ¯=â¯0.993, pâ¯<â¯0.001 and râ¯=â¯0.996, pâ¯<â¯0.001 respectively). CONCLUSION: In the presence of a CTO, RA pressure adjustment of FFR in the non-CTO vessels leads to trivial numerical changes, which are statistically significant but clinically negligible.
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Angina Estável/diagnóstico , Função do Átrio Direito , Pressão Atrial , Cateterismo Cardíaco , Oclusão Coronária/diagnóstico , Vasos Coronários/fisiopatologia , Reserva Fracionada de Fluxo Miocárdico , Idoso , Angina Estável/fisiopatologia , Doença Crônica , Circulação Colateral , Angiografia Coronária , Oclusão Coronária/fisiopatologia , Vasos Coronários/diagnóstico por imagem , Feminino , Humanos , Hiperemia/fisiopatologia , Masculino , Pessoa de Meia-Idade , Modelos Cardiovasculares , Valor Preditivo dos Testes , Estudos Prospectivos , Reprodutibilidade dos TestesRESUMO
BACKGROUND: Neurenteric cysts (NECs) are rare developmental malformations of the central nervous system (CNS) which originate as benign congenital lesions. They originate from developmental foregut precursors, and are presumed to be the result of abnormal partitioning of the embryonic notochord plate. Such NECs predominantly arise in the cervical region in patients around 6 years of age or in their twenties or thirties. Notably, NECs of the conus medullaris are exceedingly rare, especially in patients of advanced age. CASE DESCRIPTION: A 70-year-old male presented with bilateral upper thigh and leg pain of over 20 years duration. His pain worsened over the past 3 years, and he sought surgical management. Although his neurological exam was normal, the lumbar magnetic resonance imaging revealed an intradural, nonenhancing, thin-walled, cystic lesion at L1/conus medullaris. The lesion was successfully resected without any adverse sequelae. CONCLUSIONS: NECs are rare congenital legions that involve the spine. Here, an L1 intradural extramedullay neuroenteric cyst of the conus medullaris was resected without complications.