neurofibromatosis lung radiology

The gene for NF2 is located on chromosome 22. All other variables were reported as percentages. It is hoped that a better understanding of neurofibromatosis with diffuse lung disease, together with an increased understanding of the pathobiology of neurofibromatosis, will lead to future therapies for this rare but highly morbid condition. Br. First, of the 16 cases of NF-DLD with recorded smoking histories, four (25%) were nonsmokers 5, 12, 15. Genetic studies. Bookshelf Some people develop many tumors, while others develop only a few. Figure 2: neurofibromas and cafe au lait spot, Case 9: neurofibromas in breast and axilla, Case 14: neurofibromas dorsal nerve roots, Case 17: plexiform neurofibroma femoral nerve, Case 20: huge abdominal and retroperitoneal plexiform neurofibromatosis, central nervous system manifestations of NF1, malignant peripheral nerve sheath tumor (MPNST), Sturge-Weber syndrome (encephalotrigeminal angiomatosis), basal cell nevus syndrome (Gorlin-Goltz syndrome), progressive facial hemiatrophy (Parry-Romberg syndrome), two or more iris hamartomas (Lisch nodules), a primary relative with NF1 with the above criteria, bony dysplasias: especially affecting the tibia. 12. In conclusion, neurofibromatosis with diffuse lung disease is a definable clinical entity, characterised by upper lobe cystic and bullous disease and lower lobe fibrosis. 310-268-3536 There are five cases with HRCT imaging reported in the literature and the present study reports three additional cases. 2020 Jun 29;12(6):e8916. Chest examination was normal. 2005;153 (1): 79-82. The NF2 gene product is a tumor-suppressor protein (calledmerlinorschwannomin). Therefore, cases of NF-DLD may have been missed. Vestibular schwannomas grow slowly, but they can grow large enough to engulf one of the eighth cranial nerves and cause brain stem compression and damage to surrounding cranial nerves. Notice: Trying to get property of non-object in \\HMFS2\WEB\DTCWIN031\dinocueros.com\public_html\wp-content\plugins\catch-web-tools\frontend\inc\seo.php on line 64 The Neurofibromatoses. "Neurofibromatosis Fact Sheet", NINDS, Publication date August 2020. HRCT revealed emphysema (25%), cyst (25%), ground-glass abnormality (37%), bullae (50%) and reticular abnormalities (50%). Primary radiographic data were obtained on identified cases of NF-DLD and reviewed by an experienced pulmonary radiologist (W.R. Webb). A chest examination revealed diffuse inspiratory crackles. Neurofibromatosis type 1 (NF-1) is a genetic syndrome characterized by clinical manifestations of systemic and progressive involvement that mainly affect the skin, nervous system, bones, and. Neurofibromatosis affects 1:2500-3000 individuals 3. osseous lesions radiology Service or Supplies: pope francis prep tuition. Chest radiograph readings were available in 63 cases and HRCT was available in eight cases (table3). Current basic and clinical research is not only aimed at understanding how defects in the responsible genes cause the diverse conditions and medical problems encountered in children and adults with NF, but also how better to predict which clinical features will arise in any given person (personalized or precision medicine). Date 06/2024. While teenagers and adults often are first seen for hearing and balance problems, young children with NF2 more commonly seek initial medical attention due to vision problems and meningiomas. Bethesda, MD 20892-2540. (2010) ISBN:3540879765. The mission of the National Institute on Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and use that knowledge to reduce the burden of neurological disease. P.O. and transmitted securely. Alves Jnior SF, Zanetti G, Alves de Melo AS, Souza AS Jr, Souza LS, de Souza Portes Meirelles G, Irion KL, Hochhegger B, Marchiori E. Respir Med. 6. 1B and 1C).MR and CT images confirmed a solid mass in the left adrenal gland and showed lung metastases, resulting in a provisional diagnosis of adrenocortical . Tissue from those with NF1, NF2, or Schwannomatosis is needed to enable scientists to study these disorders more effectively. Diagnostic imaging of diffuse infiltrative disease of the lung. In the other half, the disease is due to a de novo mutation 6. On hospital day 3, CXR was negative for . The hallmarks of NF1 are the multiple caf-au-lait macules and associated cutaneous neurofibromas. 3. Pulmonary hypertension (PH) associated with NF1 (PH-NF1) is a rare but severe complication of NF1 and is classified as Group 5 PH, defined as "PH with unclear and/or multifactorial mechanisms". Itoh T, Magnaldi S, White RM et-al. Neurofibromatosis type 1 (NF1) is a genetic disorder affecting the skin, nervous system, eyes and bones. NINDS is a component of the National Institutes of Health (NIH), the leading supporter of biomedical research in the world. The first name of this condition was von Recklinghausen disease because in 1882, Friedrichvon Recklinghausendescribed cases of neurofibromatosis and recognized it as a nosological entity 14. Neurofibromatosis 1 (NF1) is the most common of the three conditions. The clinical and radiographic characteristics of cases of NF-DLD reported in the literature are also summarised. Reference article, Radiopaedia.org. Koeller KK, Rushing EJ. National Institutes of Health Osteogenesis Imperfecta Tarda in a 15-year-old male.Lateral radiograph of the right knee demonstrates marked cortical thinning with undertubulation of the long bones (gracile bones). Secondly, the radiographic appearance of HRCT in the current three cases (which constitute approximately 40% of reported HRCT cases) is atypical for smoking-related disease; the borders of the cysts and bullae are thicker and more sharply defined than is seen in smoking-related emphysema. An association of neurofibromatosis with diffuse lung disease (NF-DLD) has been described, but its true prevalence and characteristics remain unclear. Males outnumbered females; most reported dyspnoea. More than 1,000 NF1 mutations that cause neurofibromatosis type 1 have been identified. Mucocele 4. The site is secure. soil that is more than 50% clay watershed. The present study reports three patients with NF-DLD seen at the University of California, San Francisco, CA, USA. An association of neurofibromatosis with diffuse lung disease (NF-DLD) has been described, but its true prevalence and characteristics remain unclear. They are seen at birth or develop during the first few years of life. There are three clinically and genetically distinct forms of neurofibromatosis. Aoki S, Barkovich AJ, Nishimura K et-al. Other symptoms a doctor may look for are: There is no currently accepted medical treatment or drug for schwannomatosis. Researchers are also testing some chemotherapy drugs as treatments for NF2-related schwannomas. HRCT showed scattered small round lung cysts in both lungs with an apical predominance (fig. Annual review of genomics and human genetics. First degree relative diagnosed with neurofibromatosis type 1 Radiology description On CT, appears as a well defined hypodense mass with minimal or no contrast enhancement On MRI, appears as a T1 hypointense and T2 hyperintense lesion with heterogeneous contrast enhancement She had never smoked. Valeyrie-Allanore L, Ismali N, Bastuji-Garin S et-al. A total of 55 adult patients with neurofibromatosis were identified, three of whom had NF-DLD. (accessed on 07 Nov 2022) https://doi.org/10.53347/rID-1725, {"containerId":"expandableQuestionsContainer","displayRelatedArticles":true,"displayNextQuestion":true,"displaySkipQuestion":true,"articleId":1725,"questionManager":null,"mcqUrl":"https://radiopaedia.org/articles/neurofibromatosis-type-1/questions/2140?lang=us"}. In distinction to centrilobular emphysema, the cysts have well-defined walls. The objective of the present study was to define diffuse lung disease in patients with neurofibromatosis. Neurofibromatosis is caused by genetic defects (mutations) that either are passed on by a parent or occur spontaneously at conception. 2022 Jan-Feb;55(1):VII-VIII. the diagnosis of nf-1 is based on the presence of two or more of the following seven criteria, determined by the clinical evaluation and family history of the patient: six or more caf-au-lait spots (diameter >5 mm before puberty and>15 mm after puberty), two or more neurofibromas of any type or one plexiform neurofibroma, axillary freckling, two Unable to load your collection due to an error, Unable to load your delegates due to an error. Pulmonary function testing is shown in table1. Children are often first seen by a doctor because of schwannomas in the skin, vision loss from retinal abnormalities or tumors, seizures, or weakness related to spinal cord compression. Box 5801 Neurofibromatosis type 1 (NF1), historically called von Recklinghausen disease The current cases revealed cystic changes and bullae, changes distinct from, but easily confused with, emphysema. Neurofibromatosis (von Recklinghausen) is a curious, often familial disease which in its severe forms is readily recognized by the association of multiple tumors of the peripheral nerves with areas of pigmentation in the skin, so-called caf au lait spots. 13. Common symptoms include dyspnoea (80%) and cough (32%). neurofibromatosis type 2. No, I did not find the content I was looking for, Yes, I did find the content I was looking for, Please rate how easy it was to navigate the NINDS website, NINDS COVID-19/SARS-CoV-2 Funding Opportunities, Human Brain and Spinal Fluid Resource Center. Freckling usually appears by 3 to 5 years of age. NF is classically divided into two types: NF type 1 (NF-1), also known as von Recklinghausen disease or peripheral neurofibromatosis, and NF type 2 (NF-2) or central neurofibromatosis. Ongoing NINDS-sponsored research continues to discover additional genes and molecular pathways that may play a role in NF-related tumor suppression or growth. Only adult cases of NF-DLD were included in the present study as it has been reported previously that NF-DLD does not occur in children. More commonly, symptoms of NF2 are first noticed in the second decade of life. Limited data are available regarding HRCT appearance in NF-DLD. A 53-yr-old Caucasian male with NF was referred for evaluation for lung transplantation. AJNR Am J Neuroradiol. Osteomyelitis secondary to sinusitis. There is no general agreement among doctors about when surgery should be performed or which surgical option is best. They can be present at birth or may not become noticeable for many years. The NF1 gene makes a protein calledneurofibromin, which regulates cell division in the nervous system and functions as a kind of molecular brake to keep cells from growing out of control. doi: 10.7759/cureus.29621. He was unable to walk >15.24m without stopping. Approximately 50 percent of affected people inherit the abnormal gene (familial); in others the condition is caused by a spontaneous genetic mutation in the NF2 gene. Of the 16 subjects with documented smoking histories, 12 were ever-smokers. NF1 cannot be cured, but treatments can help manage signs and symptoms. In many cases, mutation of the SMARCB or LZTR1 genes is associated with the disease; however, the genetic cause of SWN in some people is unknown. (accessed on 07 Nov 2022) https://doi.org/10.53347/rID-31690. Neurofibromatosis type 1 (NF1), also known as von Recklinghausen disease, is a multisystem neurocutaneous disorder,the most common phakomatosis, and a RASopathy. The NINDS supports clinical trials aimed at understanding tumor growth and cognitive impairments in children. NINDS-supported researchers are using a variety of tests, including diagnostic imaging, eye examinations, hearing and balance tests, neurologic examinations, blood and genetic testing, and quality of life assessments to characterize the impact of NF2 on individuals and better understand disease progression. FOIA Individual systemic manifestations are discussed individually: The remainder of this article pertains to a general discussion of neurofibromatosis type 1. Neurofibromatosis type 1: a diagnostic mimicker at CT. Radiographics. Type 1 neurofibromatosis (NF1) (OMIM 162200) is an autosomal dominant disease with an incidence of one in 3-4000 . Bethesda, MD 20824 The mean age of patients was 50 yrs. 2,5 Hitherto, no specific treatment has been approved for patients with NF1. Of these, four (25%) were nonsmokers. Neurofibromatosis type 1 (NF1), previously known as von Recklinghausen disease, is the most common type. These mutations keep the genesidentified asNF1,NF2, SMARCB1, and LZTR1from making normal proteins that control the ability of the cells to function properly. Epub 2019 Jan 17. European Respiratory Society442 Glossop RoadSheffield S10 2PXUnited KingdomTel: +44 114 2672860Email: journals@ersnet.org, Print ISSN: 0903-1936 Chest examination was normal. Form Approved OMB# 0925-0648 Exp. Neurofibromatosis type 1 is seen in 1 of 3000-5000 people across the world. November 5, 2022 . All NINDS-prepared information is in the public domain and may be freely copied. A tumor of the optic pathway (called an optic pathway glioma). Freckling in the armpits or the groin Neurofibromatosis types 1 and 2: cranial MR findings. The development of the penetrating auditory brain stem implant (a device that stimulates the hearing portions of the brain) can restore some hearing in individuals who have completely lost hearing and do not have an auditory nerve present. ABBREVIATIONS: NF-1. Coronal and sagittal T1 MRI without contrast of the thoracic spine shows dural ectasia. In summary, the present authors believe currently available data suggest that neurofibromatosis with diffuse lung disease is a distinct clinical entity, characterised by upper lobe cystic and bullous disease and basilar fibrosis. MAPK. MRI of the Whole Body An Illustrated Guide to Common Pathologies This page intentionally left blank MRI of the Whole. Surgery to remove the entire tumor while its still small might help preserve hearing. Radiol Bras. Accessibility Before As tumors grow larger, it becomes harder to surgically preserve hearing and the auditory nerve. Rev Neurol Dis. Neurofibromatosis type 1: State-of-the-art review with emphasis on pulmonary involvement. Most of these mutations are unique to a particular family. Plexiform neurofibromas are nerve-associated tumors involving nerves outside of the brain and spinal cord. Ground-glass opacities, a hallmark of smoking-related ILD, was only seen in three patients 19, 20. Of the 70 cases, three cases had reticular opacities and other potential causes of their diffuse lung disease: residual scarring from acute respiratory distress syndrome; rheumatoid arthritis-related ILD and smoking-related ILD (e.g. Radiographics. Finding these links could help doctors anticipate cognitive impairments and inform early intervention programs. Consequently, early diagnosis and genetic counseling are of vital importance. In addition, studies in NF1, NF2, and SWN have revealed numerous important insights for investigators working in other fields, including brain cancer, sarcoma, autism, learning disabilities, nerve regeneration, chronic pain, and targeted therapies. university of washington radiology teaching filestelerik dropdownlist search blazor. . Men why is an obsessive fan called a stan; nicotine patch to quit vaping ios keyboard shortcuts symbols; san diego city college financial aid email; bodies of voters 11 letters; edn deska; Hasii; Fotogalerie; Czech Point; Kontakt A hemothorax (derived from hemo-[blood] + thorax [chest], plural hemothoraces) is an accumulation of blood within the pleural cavity.The symptoms of a hemothorax may include chest pain and difficulty breathing, while the clinical signs may include reduced breath sounds on the affected side and a rapid heart rate.Hemothoraces are usually caused by an injury, but they may occur spontaneously due . Lung parenchymal disease is described, but it must be differentiated from other common etiologies that could be associated. Gupta N, Banerjee A, Haas-Kogan D. Pediatric CNS Tumors. The cause neurofibromatosis type 1 in all Advances in Knowledge integration of functional, molecular, and affected individuals (ie, 100% genetic metabolic information provided by ra- penetrance). Only 5% presented with chest pain and 11% were asymptomatic. Reference article, Radiopaedia.org. In addition to pulmonary fibrosis, neurofibromatosis may have other intrathoracic associations; including "dumbbell" neurofibromas, intercostal neurofibromas, and intrathoracic meningoceles. Bone. Epub 2012 Sep 21. NF1 should be evaluated periodically by an NF1 specialist, even if they are not experiencing symptoms, to evaluate for signs or symptoms that may indicate a need for treatment and to provide reassurance that treatment is not needed when appropriate. (e.g., breast, lung, neuroblastoma, and Ewing's sarcoma) 3. Several observations, however, suggest that NF-DLD is a distinct clinical entity. 24 (6): 1693-708. Its relationship to smoking remains unclear. Ongoing clinical studies on drugs that block the enzyme mitogen-activated protein kinase (that affects how some cells grow and develop) show great promise in treating NF1-associated tumors, especially in children. sharing sensitive information, make sure youre on a federal He was a former smoker. Yet, patients may be affected by lung bullae and cysts, which represent an increased risk for secondary spontaneous pneumothorax (SSP). Zompatori M, Bn C, Poletti V, Spaggiari E, Ormitti F, Calabr E, Tognini G, Sverzellati N. Respiration. From the archives of the AFIP: pilocytic astrocytoma: radiologic-pathologic correlation. Jacquemin C, Bosley TM, Svedberg H. Orbit deformities in craniofacial neurofibromatosis type 1. Radiographic studies of NF patients using conventional chest radiography commonly report large apical asymmetric thin-walled bullae (73%), sometimes occupying a substantial portion of hemithorax and associated with areas of hypovascularity and bibasilar, subpleural reticular abnormality (61%). Radiology signs associated with Neurofibromas. graco turbobooster highback booster seat, go green There is some evidence that a genetic linkage between neurofibromatosis and carcinogenesis in the lung may exist. Neurofibromatosis-associated diffuse lung disease: case report. In conclusion, neurofibromatosis with diffuse lung disease is a definable clinical entity, characterised by upper lobe cystic and bullous disease and lower lobe fibrosis. guidance by interventional radiology. Neurofibromatosis occurs in both sexes and in all races and ethnic groups. Neurofibromatosis-associated lung disease: A case series and literature review. Neurofibromatosis type 1: the evolution of deep gray and white matter MR abnormalities. NF-2. In April 2020 the U.S. Food and Drug Administration approved selumetinib (Koselugo) as a treament for children ages 2 years and older wth neurofibromatosis type 1. Of the other tumours, gastro-intestinal stromal tumours, optic nerve gliomas, phaeochromocytomas, parathyroid . 7. lung and GI tract. Neurofibromatosis (NF) is a neurocutaneous genetic disorder that affects the bone, soft tissue, skin, and nervous system. Symptoms associated with malignancy of peripheral nerve sheath tumours: a retrospective study of 69 patients with neurofibromatosis 1. Clinical trials offer hope for many people and an opportunity to help researchers find better ways to safely detect, treat, or prevent disease. As is the case with many phakomatoses, NF1 results in a variety of abnormalities of variable severity. It can also develop spontaneously. He had chronic cough and dyspnoea. Two or more growths on the iris of the eye (known as Lisch nodules or iris hamartomas) Neurofibromatosis type 1 revisited. Tel: 630-510-1115; 800-942-6825, Neurofibromatosis Clinical Trials Consortium, Department of Defense Neurofibromatosis Research Program, Back toNeurofibromatosis Information Page. 1989;172 (2): 527-34. Did you find the content you were looking for? An award-winning, radiologic teaching site for medical students and those starting out in radiology focusing on chest, GI, cardiac and musculoskeletal diseases containing hundreds of lectures, quizzes, hand-out notes, interactive material, most commons lists and pictorial differential diagnoses Each child of an affected parent has a 50 percent chance inheriting the abnormal NF2 gene. Eight patients had HRCT scan results demonstrating ground-glass opacities (37%), bibasilar reticular opacities (50%), bullae (50%), cysts (25%) and emphysema (25%); none had honeycombing. Each child of an affected parent has a 50 percent chance of inheriting the gene mutation. For this reason, the disorder is classified as a RASopathy12. The NINDS supports clinical trials involving a large group of children with NF1 to find associations between brain abnormalities and specific cognitive disabilities. Main Menu. official website and that any information you provide is encrypted Detailed imaging of the brain and spinal cord by MRI are necessary and additional imaging based on symptoms may reveal schwannomas on peripheral nerves. A retrospective case series and literature review in a tertiary care academic medical centre is reported in which medical records, chest radiographs and high-resolution computed tomography (HRCT) scans were reviewed. Freckling can occur in other conditions, but not with the other symptoms and concerns of NF1. 2. In addition, ~45% (range 30-60%) of patients have learning disabilities, and approximately 1% have hypertension due to renal artery stenosis. {"url":"/signup-modal-props.json?lang=us\u0026email="}, Gaillard, F. Neurofibromatosis type 1. There was no clubbing. Genetic testing can be useful in some situations, such as for prenatal testing or when the clinical diagnosis is inconclusive. . Individuals considering surgery should carefully weigh the risks and benefits of all options to determine which treatment is right for them. NF-1 is much more common than NF-2, accounting for greater than 90% of all cases of neurofibromatosis. The occurrence of NF-DLD in nonsmokers, the presence of cysts distinct from smoking-related emphysema on HRCT and the histopathological pattern of NSIP, all support the association of cystic lung disease as a distinct manifestation of NF. Check for errors and try again. An 18-month-old girl with signs of precocious puberty underwent abdominal ultrasound, which revealed a large left suprarenal mass ().She was referred to a nearby pediatric hospital where abdominal MRI and chest CT were performed (Figs. Sporadic cases of NF with diffuse lung disease (NF-DLD) have been published in case reports, but the overall prevalence and clinical characteristics of NF-DLD remain unclear. Unable to process the form. Forty-eight cases of malignant peripheral nerve sheath tumor, all from patients with documented neurofibromatosis, and 97 cases of genetically confirmed synovial sarcoma, including 4 intraneural . This gene produces a protein called neurofibromin that helps regulate cell growth. Doctors Clinical Trials Researchers Schedule New Patients Referring Physicians Locations Magnolia McKinley Wesley Chapel International Plaza Moffitt Memorial Fowler Telecomm Intellicenter Find Doctor MyMoffitt Portal Log Enroll Donate 888 663 3488 Search Cancer Types Treatments. eCollection 2021. These nodules are harmless, are not usually seen until adolescence, dont affect vision, and do not require monitoring or treatment. Caf-au-lait spots are not dangerous but indicate the possible presence of an NF1 gene change in the person. NOTE: We only request your email address so that the person you are recommending the page to knows that you wanted them to see it, and that it is not junk mail. Springer Verlag. The diagnosis is made based on clinical manifestations. Disclaimer, National Library of Medicine An official website of the United States government. A-Z of Chest Radiology - July 2007. NF is an autosomal dominant disorder, probably of neural crest origin, that affects all 3 germinal layers; therefore, it can involve any organ system. Patchefsky et al. Donors may contact:Human Brain and Spinal Fluid Resource Center Headache and seizures are treated with medications. desquamative interstitial pneumonia). Among 55 cases of NF seen at the University of California between 1980 and 2004 (prevalence 5.5%), three patients were identified with NF-DLD. The NF1 gene is located on chromosome 17. 2012 Oct;33(5):572-5. doi: 10.1055/s-0032-1325165. Prepared by: Radiology Cases of Plexiform Neurofibroma in Neurofibromatosis Type 1 CXR shows a posterior mediastinal mass. Eight patients had HRCT scan results demonstrating ground-glass opacities (37%), bibasilar reticular opacities (50%), bullae (50%), cysts (25%) and emphysema (25%); none had honeycombing. Neurofibromas are tumors that originate from nerve cells. Children and adults with NF1 can have a variety of symptoms and medical problems which can change across a lifespan. Two radiologists evaluated the HRCT scans and a final decision was reached by consensus. doi: 10.1590/0100-3984.2022.55.1e2. Ryu JH, Parambil JG, McGrann PS, Aughenbaugh GL. This suggests smoking may indeed be a risk factor for the development and severity of NF-DLD 2, 18. 2 shows bilateral asymmetric bullous disease. (some study populations Imaging was successfully performed in patients with lung or head-and-neck contain as many as 20 000 individuals). In half of the cases, the disease is inherited as an autosomal dominant condition. Online ISSN: 1399-3003, Copyright 2022 by the European Respiratory Society. 4. Neurofibromatosis 2 (NF2) is less common than NF1. 2022 Jul;67(1):20-35. doi: 10.1165/rcmb.2021-0557TR. Its relationship to smoking remains unclear. Neurofibromatosis: Types 1 and 2. Neurofibromatosis type-1-associated diffuse lung disease in children Paolo Spinnato MD, Paolo Spinnato MD orcid.org/0000-0001-6060-3215 Diagnostic and Interventional Radiology, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy Search for more papers by this author Giancarlo Facchini MD, PhD, Giancarlo Facchini MD, PhD Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history. A total of 55 adult patients with neurofibromatosis were identified, three of whom had NF-DLD. 2). 1994;15 (8): 1513-9. 2004 Jan-Feb;71(1):4-19. doi: 10.1159/000075642. CXR PA shows a large soft tissue mass in the apex of the right lung which causes thinning of the right 1st-5th ribs posteriorly. The most common first symptom is hearing loss or ringing in the ears (tinnitus) related to vestibular schwannomas. A recent article questioned the association of NF with diffuse ILD 2. Once this mutation has occurred, the abnormal gene can be inherited. Pediatrics. Neuroradiology Thorax Genitourinary Neurofibromatosis II Neurofibromatosis II Red arrow points at a meningioma , which a common finding in Patients with Neurofibromatosis II in the left frontal lobe Red arrow points at a at another meningioma along the falx cerebri in the same patient, a common finding in patients with Neurofibromatosis II

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