Aggressive embryonal rhabdomyosarcoma presenting as schwanoma : a case report

Rhabdomyosarcomas (RMS) are thought to arise from pluripotent muscle cell precursors intended to form the bodyís future striated muscle. Due to the wide distribution of striated muscle across the body these tumors may appear anywhere and cause symptoms accordingly. Presenting symptoms are highly variable and based on the tumor size and location making clinical diagnosis difficult. The diagnosis of RMS is based on histological examination; however they express varying cytologic pictures representing the different stages of rhabdomyoblasts and their development into skeletal muscle presenting pictures from highly to poorly differentiated neoplasms. Therefore their histological diagnosis also requires the use of specialized stains and complex staining procedures which may not be available at peripheral centers. Here we would like to present a highly aggressive embryonal rhabdomyosarcoma of the maxilla, presenting as a schwanoma on initial histopathology

Neuronavigation assisted endoscopic sinus surgery

In the past two decades, endoscopic sinus surgeries (ESS) have been widely advocated as a safe and effective treatment for disorders of paranasal sinuses that are refractory to medical therapy. ESS caters surgeons with two-dimensional visualization of the anatomical structures; however in scenarios where there is a close anatomical relation between the disease and delicate intracranial or intraorbital structures drastic complications can occur. Hence, endoscopic procedures had to be converted into open surgical procedures if the extent of the disease could not be visualized or cleared thoroughly. Recently however; neuronavigation systems have been combined with ESS to yield better results and facilitate this procedure. The implementation of these systems with ESS has aided surgeons in difficult approaches. We recently decided to use the neuronavigation system of our Neurosurgical department to help aid eradicate various nasal and sinus pathologies in a series of patients

Configuration Methodology for Traffic-Responsive Plan Selection: A Global Perspective

Although several studies have shown the potential great benefits of traffic-responsive plan selection (TRPS) control, time-of-day operation continues to be the primary method used to select patterns for signal control applications. This practice could be largely attributed to the minimal guidelines available on the setup of the TRPS mode. An innovative framework for TRPS system setup is provided, and guidelines for implementing TRPS in a simplified manner are shown. The guidelines, developed at Texas Transportation Institute (TTI), use a comprehensive approach that incorporates a multiobjective evolutionary algorithm and a supervised discriminant analysis. Engineers can directly implement the guidelines presented as an initial design. Hardware-in-the-loop simulation is used to illustrate the performance of TTI’s TRPS configuration methodology

Pycnodysostosis- A Rare Diagnosis Not to Miss

Key Words: Pycnodysostosis, fracture, autosomal recessive Background Pycnodysostosis derived from the Greek words pycnos-density, dys-defect, ostosis-bone is a rare inherited disorder of the bone with an incidence of 1.7 per million births 1. It is one of the lysosomal storage disorders with a deficiency of enzyme cathepsin K. Along with a history of repeated fractures of the bones, patients with Pycnodysostosis have a short stature, dolichocephalic skull, obtuse mandibular angle, short terminal phalanx. They also have dental abnormalities such as the delayed eruption of permanent teeth, and double rows of teeth. Mild psychomotor problems were noted in a few individuals 1, 2. Pycnodysostosis is diagnosed by clinical and radiological features as there is no diagnostic criterion. Skulls show open fontanels, generalized osteosclerosis, loss of the normal angle of the jaw, and hypoplasia of facial bones 3. Social and occupational support needed to prevent recurrent fractures. Orthopaedic and orthodontic cares are needed 4-7. The Case A non-diabetic normotensive male of 63 years presented to the medicine outpatients department (OPD) with complaints of burning type, non-radiating moderate intensity pain in the epigastric region for three months following taking of NSAIDs.  He gave a history of fractures of different bones following minimal trauma since his childhood and used to take NSAIDs every now and then. He did take orthopaedic consultation for those fractures but the underlying pathophysiology was not explored. Malunion of long bones resulted in a deformed limb. The rest of his past medical history and family history was unremarkable. On clinical examination, we found the patient had short stature with proportionately short limbs. He had dysmorphic features with a large head, small facial structures, frontal and bilateral parietal bossing. Examination of the oral cavity revealed a narrow high arched palate and hypoplastic, overcrowded teeth. His digits were short and stubby. The lower limbs of the patient have angular deformities that resulted from malunion of bones from previous fracture. Haematological and biochemical investigations were normal. Chest X-ray showed multiple ribs fracture on the right side. The patient's clavicle was normal in X-ray. Both tibia and fibula showed a malunited fracture in diaphysis. Computed tomography (CT) of the skull, as well as 3D reconstruction of CT, found open fontanelles and widening of sutures (Figure 1). Frontal and parietal bossing was noted. There was hypoplasia of the air sinuses. CT scans showed dysplasia of the bones of the face and hands. Hypoplasia was noted in the terminal phalanx of fingers. An endoscopy of the upper gastrointestinal tract found multiple erosion around the antrum of the stomach. Considering the clinical and radiological feature diagnosis of Pycnodysostosis with NSAIDs-induced antral erosion was made. The patient and his caregivers were briefed about the diagnosis.  Consultation from a multidisciplinary team was done concerning his treatment. Conclusion It is important to diagnose Pycnodysostosis early as it allows proper planning to prevent future fractures. While assessing a patient with short stature with a history of repeated bone fracture Pycnodysostosis should be considered along with other differentials

Successful management of aggressive fibromatosis of the neck using wide surgical excision: a case report

<p>Abstract</p> <p>Introduction</p> <p>Aggressive fibromatosis is a benign tumor, thought to arise from deep musculoaponeurotic structures, rarely found in the head or neck. However, when it does occur in the head and neck region, it tends to be more aggressive and associated with significant morbidity, which may be attributed to the vital vascular, neurological or anatomical structures in close proximity.</p> <p>Case presentation</p> <p>We report the case of a 39-year-old Pakistani man who presented with a two-month history of a lump on the right side of his neck. The mass was excised and histopathological analysis revealed a case of aggressive fibromatosis.</p> <p>Conclusion</p> <p>Due to the rarity of the condition no guidelines are available on the indications and extent of each modality. Due to its aggressive behavior and tendency to invade local structures and recur, a multi-modality management strategy is usually employed. On the basis of this case, we suggest that aggressive surgery is a viable management option and may be successfully used as a single modality treatment.</p

A comparative analysis of toluidine blue with frozen section in oral squamous cell carcinoma

Background:Surgical excision of the primary tumor with safe margins remains the mainstay of treatment for oral cavity squamous cell carcinoma (OSCC). The standard of care for assessment of intraoperative margins is frozen section histopathology. Unfortunately the facility is not available at most centers in limited resource countries. Toluidine blue, a metachromatic dye, has been well described in clinical identification of malignant and premalignant lesion in the oral cavity. Considering this we decided to explore intraoperative use of toluidine blue staining, in comparison with frozen sections, for the assessment of tumor-free margins. Methods: After obtaining clearance from the in-house ethical review committee, a prospective study was conducted at Aga Khan University Hospital, Karachi, from August 15, 2009 to March 14, 2010. A sample of 56 consenting Patients with biopsy-proven OSCC were included in the study, giving us 280 tumor margins. Margins were analyzed using toluidine blue staining and frozen section histopathology. A receiver operator curve (ROC) was then applied to compare assessment of margin status by toluidine blue and frozen section. Results: Of the 280 examined margins 11 stained positive with toluidine blue, three were positive on frozen section biopsy, and three were positive on final histopathology. Toluidine blue staining had sensitivity and specificity of 100% and 97%, respectively. The diagnostic accuracy of toluidine blue was found to be 97.1% with a positive predictive value (PPV) of 27.2% and a negative predictive value (NPV) of 100%. Conclusions: Toluidine blue can be used as an effective screening modality for the assessment of intraoperative margins in resource limited environments and reducing the number of frozen section biopsies performed. Further by providing real-time clinical information within minutes it can reduce indirect costs such as operating room time. It may also be used as an ad hoc for frozen section biopsies where frozen section facilities are available

Causes of blindness and vision impairment in 2020 and trends over 30 years, and prevalence of avoidable blindness in relation to VISION 2020 : the right to sight : an analysis for the Global Burden of Disease Study

Background: Many causes of vision impairment can be prevented or treated. With an ageing global population, the demands for eye health services are increasing. We estimated the prevalence and relative contribution of avoidable causes of blindness and vision impairment globally from 1990 to 2020. We aimed to compare the results with the World Health Assembly Global Action Plan (WHA GAP) target of a 25% global reduction from 2010 to 2019 in avoidable vision impairment, defined as cataract and undercorrected refractive error.Methods: We did a systematic review and meta-analysis of population-based surveys of eye disease from January, 1980, to October, 2018. We fitted hierarchical models to estimate prevalence (with 95% uncertainty intervals [UIs]) of moderate and severe vision impairment (MSVI; presenting visual acuity from <6/18 to 3/60) and blindness (<3/60 or less than 10° visual field around central fixation) by cause, age, region, and year. Because of data sparsity at younger ages, our analysis focused on adults aged 50 years and older.Findings: Global crude prevalence of avoidable vision impairment and blindness in adults aged 50 years and older did not change between 2010 and 2019 (percentage change −0·2% [95% UI −1·5 to 1·0]; 2019 prevalence 9·58 cases per 1000 people [95% IU 8·51 to 10·8], 2010 prevalence 96·0 cases per 1000 people [86·0 to 107·0]). Age-standardised prevalence of avoidable blindness decreased by −15·4% [–16·8 to −14·3], while avoidable MSVI showed no change (0·5% [–0·8 to 1·6]). However, the number of cases increased for both avoidable blindness (10·8% [8·9 to 12·4]) and MSVI (31·5% [30·0 to 33·1]). The leading global causes of blindness in those aged 50 years and older in 2020 were cataract (15·2 million cases [9% IU 12·7–18·0]), followed by glaucoma (3·6 million cases [2·8–4·4]), undercorrected refractive error (2·3 million cases [1·8–2·8]), age-related macular degeneration (1·8 million cases [1·3–2·4]), and diabetic retinopathy (0·86 million cases [0·59–1·23]). Leading causes of MSVI were undercorrected refractive error (86·1 million cases [74·2–101·0]) and cataract (78·8 million cases [67·2–91·4]).Interpretation: Results suggest eye care services contributed to the observed reduction of age-standardised rates of avoidable blindness but not of MSVI, and that the target in an ageing global population was not reached

Causes of blindness and vision impairment in 2020 and trends over 30 years, and prevalence of avoidable blindness in relation to VISION 2020: the Right to Sight: an analysis for the Global Burden of Disease Study

Background Many causes of vision impairment can be prevented or treated. With an ageing global population, the demands for eye health services are increasing. We estimated the prevalence and relative contribution of avoidable causes of blindness and vision impairment globally from 1990 to 2020. We aimed to compare the results with the World Health Assembly Global Action Plan (WHA GAP) target of a 25% global reduction from 2010 to 2019 in avoidable vision impairment, defined as cataract and undercorrected refractive error. Methods We did a systematic review and meta-analysis of population-based surveys of eye disease from January, 1980, to October, 2018. We fitted hierarchical models to estimate prevalence (with 95% uncertainty intervals [UIs]) of moderate and severe vision impairment (MSVI; presenting visual acuity from <6/18 to 3/60) and blindness (<3/60 or less than 10° visual field around central fixation) by cause, age, region, and year. Because of data sparsity at younger ages, our analysis focused on adults aged 50 years and older. Findings Global crude prevalence of avoidable vision impairment and blindness in adults aged 50 years and older did not change between 2010 and 2019 (percentage change −0·2% [95% UI −1·5 to 1·0]; 2019 prevalence 9·58 cases per 1000 people [95% IU 8·51 to 10·8], 2010 prevalence 96·0 cases per 1000 people [86·0 to 107·0]). Age-standardised prevalence of avoidable blindness decreased by −15·4% [–16·8 to −14·3], while avoidable MSVI showed no change (0·5% [–0·8 to 1·6]). However, the number of cases increased for both avoidable blindness (10·8% [8·9 to 12·4]) and MSVI (31·5% [30·0 to 33·1]). The leading global causes of blindness in those aged 50 years and older in 2020 were cataract (15·2 million cases [9% IU 12·7–18·0]), followed by glaucoma (3·6 million cases [2·8–4·4]), undercorrected refractive error (2·3 million cases [1·8–2·8]), age-related macular degeneration (1·8 million cases [1·3–2·4]), and diabetic retinopathy (0·86 million cases [0·59–1·23]). Leading causes of MSVI were undercorrected refractive error (86·1 million cases [74·2–101·0]) and cataract (78·8 million cases [67·2–91·4]). Interpretation Results suggest eye care services contributed to the observed reduction of age-standardised rates of avoidable blindness but not of MSVI, and that the target in an ageing global population was not reached

Global, regional, and national burden of stroke and its risk factors, 1990-2019: a systematic analysis for the Global Burden of Disease Study 2019

Background: Regularly updated data on stroke and its pathological types, including data on their incidence, prevalence, mortality, disability, risk factors, and epidemiological trends, are important for evidence-based stroke care planning and resource allocation. The Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) aims to provide a standardised and comprehensive measurement of these metrics at global, regional, and national levels. Methods: We applied GBD 2019 analytical tools to calculate stroke incidence, prevalence, mortality, disability-adjusted life-years (DALYs), and the population attributable fraction (PAF) of DALYs (with corresponding 95% uncertainty intervals [UIs]) associated with 19 risk factors, for 204 countries and territories from 1990 to 2019. These estimates were provided for ischaemic stroke, intracerebral haemorrhage, subarachnoid haemorrhage, and all strokes combined, and stratified by sex, age group, and World Bank country income level. Findings: In 2019, there were 12·2 million (95% UI 11·0–13·6) incident cases of stroke, 101 million (93·2–111) prevalent cases of stroke, 143 million (133–153) DALYs due to stroke, and 6·55 million (6·00–7·02) deaths from stroke. Globally, stroke remained the second-leading cause of death (11·6% [10·8–12·2] of total deaths) and the third-leading cause of death and disability combined (5·7% [5·1–6·2] of total DALYs) in 2019. From 1990 to 2019, the absolute number of incident strokes increased by 70·0% (67·0–73·0), prevalent strokes increased by 85·0% (83·0–88·0), deaths from stroke increased by 43·0% (31·0–55·0), and DALYs due to stroke increased by 32·0% (22·0–42·0). During the same period, age-standardised rates of stroke incidence decreased by 17·0% (15·0–18·0), mortality decreased by 36·0% (31·0–42·0), prevalence decreased by 6·0% (5·0–7·0), and DALYs decreased by 36·0% (31·0–42·0). However, among people younger than 70 years, prevalence rates increased by 22·0% (21·0–24·0) and incidence rates increased by 15·0% (12·0–18·0). In 2019, the age-standardised stroke-related mortality rate was 3·6 (3·5–3·8) times higher in the World Bank low-income group than in the World Bank high-income group, and the age-standardised stroke-related DALY rate was 3·7 (3·5–3·9) times higher in the low-income group than the high-income group. Ischaemic stroke constituted 62·4% of all incident strokes in 2019 (7·63 million [6·57–8·96]), while intracerebral haemorrhage constituted 27·9% (3·41 million [2·97–3·91]) and subarachnoid haemorrhage constituted 9·7% (1·18 million [1·01–1·39]). In 2019, the five leading risk factors for stroke were high systolic blood pressure (contributing to 79·6 million [67·7–90·8] DALYs or 55·5% [48·2–62·0] of total stroke DALYs), high body-mass index (34·9 million [22·3–48·6] DALYs or 24·3% [15·7–33·2]), high fasting plasma glucose (28·9 million [19·8–41·5] DALYs or 20·2% [13·8–29·1]), ambient particulate matter pollution (28·7 million [23·4–33·4] DALYs or 20·1% [16·6–23·0]), and smoking (25·3 million [22·6–28·2] DALYs or 17·6% [16·4–19·0]). Interpretation: The annual number of strokes and deaths due to stroke increased substantially from 1990 to 2019, despite substantial reductions in age-standardised rates, particularly among people older than 70 years. The highest age-standardised stroke-related mortality and DALY rates were in the World Bank low-income group. The fastest-growing risk factor for stroke between 1990 and 2019 was high body-mass index. Without urgent implementation of effective primary prevention strategies, the stroke burden will probably continue to grow across the world, particularly in low-income countries. Funding: Bill & Melinda Gates Foundation