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Angelman's syndrome (AS) is a genetic neurodevelopment disorder. The cause is a known abnormality involving the maternal inherited ubiquitin‐protein ligase (UBE3A) gene. Clinical characteristics universal to the disorder are well documented in the literature and include developmental delay, seizures, ataxia, altered tone, severely impaired speech and intellect, as well as an overall happy demeanor, frequent bouts of laughter, and hypermotoric behavior. Associated with this disorder are several musculoskeletal aberrations. To date, a review of case studies reporting on these musculoskeletal changes has not been carried out. Thus, the purpose of this paper was to provide an overview of the musculoskeletal changes present in individuals with AS. In our review of 21 case reports from 1965–2013, the most consistently reported anatomical changes were of the craniofacial region. These include microcephaly, brachycephaly, a palpable occipital groove, prognathism, and wide spaced teeth. Other musculoskeletal abnormalities less frequently reported in the literature include scoliosis, excessive lumbar lordosis, and pes planus. Given that the majority of the case reports reviewed was of young children, the possibility of underreporting musculoskeletal changes which may manifest in the later years of life may be present. Early diagnosis and interventions to minimize secondary complications are crucial to maintain quality of life. An overall multidisciplinary approach is emphasized to maximize developmental potential for these individuals. Future prospective studies that follow patients into adulthood are needed to better understand the prevalence and development of secondary musculoskeletal changes, which in turn can inform intervention techniques and preventative measures. Clin. Anat. 29:561–567, 2016. © 2015 Wiley Periodicals, Inc. 相似文献
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Kavita Sachdeva 《Indian journal of otolaryngology and head and neck surgery》2013,65(4):375-379
AIM of the study is to evaluate etiopathogenesis role played by predisposing conditions (Diabetes, Immunosupression), precipitating factors (trauma/surgery/ketoacidosis) and possible role of occupational hazard is discussed briefly. Clinical presentation and management of patients presenting with rhinoorbitocerebral mucormycosis is discussed. The prospective study of patient undergoing treatment of mucormycosis] without control Setting was done in ENT Deptt. NSCB Medical College, Jabalpur (tertiary referral centre of mid India). Subject were patients presenting with invasive fungal rhino sinusitis presenting with orbital involvement and cranial nerve palsies undergoing treatment. The detailed history, clinical examination including cranial nerve examination, blood test, CTscan and biopsy. Nasal endoscopy, CWL surgery and medical management with 6 month follow up. All six patients were diabetic when evaluated on presentation. Two patients had ketoacidosis. Four had history of surgery in recent past. Blood stained nasal discharge and dysaesthesia of face are early warning signs. They had necrotic lesion in nose and infraorbital area with 2, 3, 4, 5, 6 and 7 cranial nerve involvement. Skin necrosis/Mucosal necrosis, facial palsy and diplopia signify advanced disease. Altered sensorium, panopthalmitis & diabetes complicated with ketoacidosis signify bad prognosis. In present study two patients with advanced disease, altered sensorium and ketoacidosis succumbed within 72 hours in spite of anti fungal medicine. Of the four surviving patients, all responded well to treatment but had residual sixth and seventh nerve palsy. One patient defaulted in diabetes control & had recurrence after 6 months. Early diagnosis, aggressive surgical debridement and proper management of underlying metabolic abnormality along with amphotericin B can avert the bad prognosis of rhinoorbitocerebral mucormycosis. 相似文献
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Kavita Sachdeva Aparaajita Upadhyay 《Indian journal of otolaryngology and head and neck surgery》2017,69(1):52-57
Neck trauma is a very important surgical emergency faced by ENT surgeons in day to day practice. They are potentially life threatening conditions due to the presence of many vital structures in this area. Timely presentation to the referral centre and proper multidisciplinary approach towards management plays a pivotal role in the healing pattern of the wound and prevention of serious complication like shock, sepsis, laryngeal stenosis or fistula formation. A retrospective study was done in ENT Department, NSCB Medical College, Jabalpur, Madhya Pradesh, India during the period of 2014–2016. 17 patients were included in the study. All the records regarding symptoms at presentation, type and mode of injury, level of injury were analyzed. Management plan undertaken were thoroughly studied and post operative complications like hoarseness, stenosis or fistula formation were noted carefully. 14 out of 17 patients were male, all 17 patients belonged to lower socioeconomic status. Most common age group presenting with neck trauma was between 22 and 40 years. 7 case were homicidal, 5 cases were suicidal and 4 were of accidental injury. Most cases reached hospital within 2–6 h of injury except 3 cases which took more than 8 h. Bleeding from wound site was most common symptom at presentation. Most injuries in 13 out of 17 cases were at thyroid cartilage level. Penetrating neck trauma was most common followed by blunt neck trauma. Most cases required emergency tracheostomy along with primary laryngotracheal repair. Most common post operative complication seen was wound dehiscence, subglottic stenosis and fistula formation. Neck trauma and cut throat injuries are potentially life threatening emergency that require multidisciplinary approach. Timely intervention can be crucial in preventing fatal complications and reducing morbidity period of the patient. 相似文献
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Background Since the first cardiac catheterization in 1929, the procedure has continually evolved with advances in understanding, capabilities, and ease of operation. Though historically performed by cut down of the brachial artery, cardiologists soon learned that transfemoral access was both easier to perform and more efficacious with regard to patient outcome. In the last 20 years, the transradial approach has been adopted, and is being utilized with increasing frequency.
Methods We conducted a survey of literature published concerning safety, efficacy, cost-effectiveness, and global uptake of transradial catheterization with specific attention to how transradial interventions compare with transfemoral interventions.
Results This review of literature indicates that when performed by an experienced interventionalist, radial catheterization is as effective as femoral catheterization and has additional benefits of shorter length of hospital stay and reduced patient costs. Transradial access is superior to transfemoral access in some, but not all, clinical scenarios; in addition, it is an effective alternative for catheterization in patients contraindicated for transfemoral procedures. Adoption of radial access in the United States is at a faster rate than previously expected, though rate of use varies drastically worldwide.
Conclusion The transradial approach is an excellent option for carrying out cardiovascular interventions, and will be adopted by more cardiologists in the upcoming years. 相似文献
18.
Soham Dasgupta Ishaan Dave Courtney E. McCracken Larry Mohl Ritu Sachdeva William Border 《Congenital heart disease》2019,14(3):350-355
Background: Physicians are exposed to workplace factors that may result in acute or
chronic stress resulting in burnout. This may impact the productivity and result in suboptimal patient care practices.
Methods: We surveyed pediatric cardiology attending physicians at our institution to assess their perception of burnout and work-life balance using the Maslach Burnout Inventory and the Areas of Work-Life Survey.
Results: Forty-five out of the 50 pediatric cardiology attendings responded to the survey. They were divided into 4 groups: Interventional/Electrophysiology [n = 3], Cardiac Intensive Care/Inpatient [n = 8], Non-Invasive Imaging [n = 6], and Outpatient [n = 28]. The Maslach Burnout Inventory demonstrated group-specific scores in the areas of emotional exhaustion, depersonalization, and personal accomplishment that were all significantly better than the general population. However, group-specific Areas of Work-Life Survey results demonstrated concerning findings with respect to the perception of work-life balance.
Conclusions: Although the Maslach Burnout Inventory did not demonstrate significant burnout among the attending physicians, the Areas of Work-Life Survey results demonstrated reduced work engagement, which can impact patient care and lead to burnout in the future. Based on these results, we plan to implement strategies to help increase work engagement and improve overall organizational effectiveness. 相似文献
Methods: We surveyed pediatric cardiology attending physicians at our institution to assess their perception of burnout and work-life balance using the Maslach Burnout Inventory and the Areas of Work-Life Survey.
Results: Forty-five out of the 50 pediatric cardiology attendings responded to the survey. They were divided into 4 groups: Interventional/Electrophysiology [n = 3], Cardiac Intensive Care/Inpatient [n = 8], Non-Invasive Imaging [n = 6], and Outpatient [n = 28]. The Maslach Burnout Inventory demonstrated group-specific scores in the areas of emotional exhaustion, depersonalization, and personal accomplishment that were all significantly better than the general population. However, group-specific Areas of Work-Life Survey results demonstrated concerning findings with respect to the perception of work-life balance.
Conclusions: Although the Maslach Burnout Inventory did not demonstrate significant burnout among the attending physicians, the Areas of Work-Life Survey results demonstrated reduced work engagement, which can impact patient care and lead to burnout in the future. Based on these results, we plan to implement strategies to help increase work engagement and improve overall organizational effectiveness. 相似文献
19.
Diagnostic utility of testosterone priming prior to dynamic tests to differentiate constitutional delay in puberty from isolated hypogonadotropic hypogonadism 下载免费PDF全文
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Emmanouil S. Brilakis MD PhD Michael Lee MD Julinda Mehilli MD Konstantinos Marmagkiolis MD Josep Rodes-Cabau MD Rajesh Sachdeva MD Anna Kotsia MD George Christopoulos MD Bavana V. Rangan BDS MPH Atif Mohammed MD Subhash Banerjee MD 《Current treatment options in cardiovascular medicine》2014,16(5):1-12