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Neurofibromatosis Type 2

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Trajectories of Self-Reported Opioid Use Among Patients With HIV Engaged in Care: Results From a National Cohort Study.

E Jennifer Edelman, Yu Li, Declan Barry, Jennifer Brennan Braden, Stephen Crystal, Robert D Kerns, Julie R Gaither, Kirsha S Gordon, Ajay Manhapra, Jessica S Merlin, Brent A Moore, Benjamin J Oldfield, Lesley S Park, Christopher T Rentsch, Melissa Skanderson, Emily C Williams, Amy C Justice, Janet P Tate, William C Becker, Brandon D L Marshall,

BACKGROUND:No prior studies have characterized long-term patterns of opioid use regardless of source or reason for use among patients with HIV (PWH). We sought to identify trajectories of self-reported opioid use and their correlates among a national sample of PWH engaged in care. SETTING:Veterans Aging Cohort Study, a prospective cohort ... Read more >>

J. Acquir. Immune Defic. Syndr. (Journal of acquired immune deficiency syndromes (1999))
[2020, 84(1):26-36]

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Correction to: An update on the CNS manifestations of neurofibromatosis type 2.

Shannon Coy, Rumana Rashid, Anat Stemmer-Rachamimov, Sandro Santagata,

The article An update on the CNS manifestations of neurofibromatosis type 2, written by Shannon Coy, Rumana Rashid, Anat Stemmer‑Rachamimov and Sandro Santagata, was originally published electronically on the publisher's internet portal (currently SpringerLink) on 04 June 2019 without open access. ... Read more >>

Acta Neuropathol. (Acta neuropathologica)
[2020, 139(4):667]

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Intraneural perineurioma in neurofibromatosis type 2 with molecular analysis.

Bartholomew White, Allan Belzberg, Shivani Ahlawat, Jaishri Blakeley, Fausto J Rodriguez,

Intraneural perineuriomas are rare benign neoplasms. The gene associated with neurofibromatosis 2 (NF2) is located on chromosome 22q12, and mutations in NF2 are commonly seen in soft tissue perineuriomas. However, an association between NF2 mutations and intraneural perineuriomas (INPs) has not been well established. We present a 20-year-old male with ... Read more >>

Clin. Neuropathol. (Clinical neuropathology)
[2020, :]

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Predictors of pain-related functional impairment among people living with HIV on long-term opioid therapy.

David P Serota, Christine Capozzi, Sara Lodi, Jonathan A Colasanti, Leah S Forman, Judith I Tsui, Alexander Y Walley, Marlene C Lira, Jeffrey Samet, Carlos Del Rio, Jessica S Merlin,

People living with HIV (PLWH) have high levels of functional impairment due to pain, also called pain interference. Long-term opioid therapy (LTOT) is commonly prescribed for chronic pain among PLWH. We sought to better understand the predictors of pain interference, measured with the Brief Pain Inventory Interference subscale (BPI-I), among ... Read more >>

AIDS Care (AIDS care)
[2020, :1-9]

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Contextualizing the Modern Epidemiology of Neurofibromatosis Type 2 in an Era of Heightened Detection of Sporadic Vestibular Schwannoma.

Eric M Dowling, John P Marinelli, Christine M Lohse, Matthew L Carlson,

OBJECTIVE:Closely paralleling previous radiologic studies, recent population-based prevalence data suggest sporadic vestibular schwannoma (VS) affects over one in 2,000 adults and up to one in 500 in those aged 70 years or older. Attributable to increased utilization of magnetic resonance imaging and screening protocols for asymmetrical sensorineural hearing loss, the ... Read more >>

Otol. Neurotol. (Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology)
[2020, 41(4):e501-e506]

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Hepatitis C Virus nonstructural protein 4B induces lipogenesis via Merlin-Hippo pathway

Zhanfeng Zhang, Rong Zhao, Jiukai Chen, Zaichun Xie, Zhiyu Pang, Yingchun Zhou,

<title>Abstract</title> <p> Hepatitis C virus (HCV) infection is often associated with hepatic steatosis, even hepatocellcular carcinoma. Nonstructural protein 4B (NS4B),a highly hydrophobic non-structural protein, induces lipogenesis, but the underlying mechanism remains incompletely understood. In the present study, NS4B expression in Huh7.5 cells could reduce moesin-ezrin-radixin–like protein (Merlin, NF2 ... Read more >>

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Clinical indications treated with unregistered antimicrobials: regulatory challenges of antimicrobial resistance and access to effective treatment for patients.

Nadine T Hillock, Lisa Paradiso, John Turnidge, Jonathan Karnon, Tracy L Merlin,

Objective Increasing antimicrobial resistance and a concurrent paucity of new antimicrobials marketed increases the risk that patients will develop infections resistant to currently available drugs. This study aimed to determine the range of clinical indications for which unregistered antimicrobials are prescribed at two tertiary hospitals in South Australia to identify ... Read more >>

Aust Health Rev (Australian health review : a publication of the Australian Hospital Association)
[2020, 44(2):263-269]

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Null phenotype of neurofibromatosis type 1 in a carrier of a heterozygous atypical NF1 deletion due to mosaicism.

Lan Kluwe, Reinhard E Friedrich, Said C Farschtschi, Christian Hagel, Hildegard Kehrer-Sawatzki, Victor-Felix Mautner,

We coincidently detected an atypical deletion of at least 1.3-Mb encompassing the NF1 tumor suppressor gene and several adjacent genes at an apparent heterozygous level in blood of a 65 years old female patient. She had multiple subcutaneous tumors which appeared with certain similarity of subcutaneous neurofibromas which however revealed ... Read more >>

Hum. Mutat. (Human mutation)
[2020, :]

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Optic pathway glioma with intraocular extension in a child with neurofibromatosis type-1.

F Palma-Carvajal, H González-Valdivia, J P Figueroa-Vercellino, C Saavedra-Gutiérrez, C Rovira-Zurriaga, J Prat-Bartomeu,

J Fr Ophtalmol (Journal francais d'ophtalmologie)
[2020, :]

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Social skills and autism spectrum disorder symptoms in children with neurofibromatosis type 1: evidence for clinical trial outcomes.

Jonathan M Payne, Karin S Walsh, Natalie A Pride, Kristina M Haebich, Alice Maier, Anita Chisholm, Danielle M Glad, Christina L Casnar, Melissa Rouel, Jennifer Lorenzo, Allison Del Castillo, Kathryn N North, Bonita Klein-Tasman,

AIM:We examined key features of two outcome measures for social dysfunction and autism spectrum disorder traits, the Social Responsiveness Scale, Second Edition (SRS-2) and the Social Skills Improvement System - Rating Scales (SSIS-RS), in children with neurofibromatosis type 1 (NF1). The aim of the study was to provide objective evidence ... Read more >>

Dev Med Child Neurol (Developmental medicine and child neurology)
[2020, :]

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Regression of a spinal schwannoma after Pomalidomide.

Mathew Kunnel Jomon, Joshua Pepper, Nigel O'Connor, Rupert Price,

A 77-year old female with a history of neurofibromatosis type 2 (NF2) was diagnosed with a spinal schwannoma that was managed conservatively over a decade. During this time, follow up imaging revealed this lesion had been growing and the patient had become symptomatic from it necessitating surgical decompression. However, the ... Read more >>

Br J Neurosurg (British journal of neurosurgery)
[2020, :1-2]

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Co-occurrence of multiple endocrine neoplasia type 4 and spinal neurofibromatosis: a case report.

Pamela Brock, Jean Bustamante Alvarez, Amir Mortazavi, Sameek Roychowdhury, John Phay, Raheela A Khawaja, Manisha H Shah, Bhavana Konda,

Multiple Endocrine Neoplasia (MEN) type 4 is a rare genetic condition that results from variants of the CDKN1B gene and predisposes individuals to develop endocrine tumors. Spinal neurofibromatosis (SNF) is an uncommon subtype of neurofibromatosis type 1 (NF1) characterized by bilateral neurofibromas of all spinal roots. Here we report a ... Read more >>

Fam. Cancer (Familial cancer)
[2020, 19(2):189-192]

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Plexiform Schwannoma of the Oral Cavity: Report of Eight Cases and a Review of the Literature.

Angela C Chi, Brad W Neville, Lisa Cheng,

Plexiform schwannoma represents an unusual schwannoma variant, characterized by multinodular growth grossly and/or microscopically. A review of the English-language literature reveals only 28 previously reported cases involving the oral cavity, and herein we present 8 additional cases. Among these 36 patients, the average age at diagnosis was 28 years (range ... Read more >>

Head Neck Pathol (Head and neck pathology)
[2020, :]

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[When to think about pediatric congenital pseudoarthrosis of the clavicle? Presentation of 2 cases].

Pablo R Justich Zabala, Rodolfo P Giniger Vidal, María J Rubio Pérez, José Guirao Pérez, César Salcedo Canovas,

The congenital pseudoarthrosis of the clavicle is a rare and benign malformation, characterized by the absence of the middle third of the clavicle. It is usually unilateral and the majority on the right side. The etiology is unknown, postulating diverse etiopathogenic theories (vascular, embryological and genetic). It can be detected ... Read more >>

Arch Argent Pediatr (Archivos argentinos de pediatria)
[2020, 118(2):e194-e198]

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[Hereditary predisposition to tumors of the central and peripheral nervous systems].

Baptiste Sourty, Audrey Rousseau,

Some tumors of the central and peripheral nervous system may be associated with a cancer predisposition syndrome, either hereditary or occurring de novo. Such a syndrome is usually associated with multiple tumors occurring early in life. Patients with neurofibromatosis type 1 present with multiple neurofibromas, especially of the plexiform type ... Read more >>

Ann Pathol (Annales de pathologie)
[2020, :]

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LASER Assisted Excision of Solitary Neurofibroma in the Gingiva.

Deepak M Ravindran, Shravanthy Ravi, Muthukumar Santhanakrishnan, Balaji SK,

Neurofibromatosis (NF) is a genetic disorder that presents as benign tumours of the nervous system originating from the nerve sheath. It is of three types: Type I, Type II and Schwannomatosis. Type I Neurofibromatosis or von Recklinghausen's disease is the most common type of neurofibromatosis seen and it accounts for ... Read more >>

Cureus (Cureus)
[2020, 12(2):]

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Grade V thoracic spondylolisthesis in neurofibromatosis type-1: a case report and literature review.

Wei Yuan, Ruochen Zhang, Lei Pei, Yue Zhu,

BACKGROUND:Grade V thoracic spondylolisthes is secondary to neurofibromatosis type-1(NF-1), especially combined with vertebral fusion, is rare. We reported a case of a 26 year-old female diagnosed with grade V T2spondylolisthesis and T2-T5 autofusion secondary to NF-1, which caused severe kyphotic deformity and neurological deficits, and she was treated with posterior ... Read more >>

World Neurosurg (World neurosurgery)
[2020, :]

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A retrospective regional study of aqueduct stenosis and fourth ventricle outflow obstruction in the paediatric complex neurofibromatosis type 1 population; Aetiology, clinical presentation and management.

Christopher Murphy, Grace Vassallo, Emma Burkitt-Wright, Eileen Hupton, Judith Eelloo, Lauren Lewis, Susan Huson, Stavros Stivaros, Ian Kamaly-Asl,

OBJECTIVES:Aqueduct stenosis (AS) and fourth ventricle outflow obstruction are rare associations of neurofibromatosis type 1 (NF1), resulting in ventriculomegaly and hydrocephalus requiring surgical treatment. This study aims to identify the prevalence of AS and its patterns of clinical presentation, aetiology and treatment in the paediatric complex NF1 population. PATIENTS AND ... Read more >>

Clin Neurol Neurosurg (Clinical neurology and neurosurgery)
[2020, 193:105791]

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Dual genetic diagnoses: neurofibromatosis type 1 and KBG syndrome.

Paola Cianci, Laura Pezzoli, Silvia Maitz, Massimo Agosti, Maria Iascone, Angelo Selicorni,

Clin. Dysmorphol. (Clinical dysmorphology)
[2020, 29(2):101-103]

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Genomics, Epigenetics, and Hearing Loss in Neurofibromatosis Type 2.

Christine T Dinh, Eric Nisenbaum, Darius Chyou, Carly Misztal, Denise Yan, Rahul Mittal, Juan Young, Mustafa Tekin, Fred Telischi, Cristina Fernandez-Valle, Xue-Zhong Liu,

OBJECTIVES:In this review, we discuss current knowledge about the genetics and epigenetics of vestibular schwannoma (VS) in relation to hearing loss. A multistep and sequential genetic algorithm suitable for the identification of Neurofibromatosis Type 2 (NF2) constitutional and somatic mutations is discussed. DATA SOURCES, STUDY SELECTION:A review was performed of ... Read more >>

Otol. Neurotol. (Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology)
[2020, :]

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A panel of criteria for comprehensive assessment of severity of ultraviolet B radiation-induced non-melanoma skin cancers in SKH-1 mice.

Marc Bazin, Nupur K Purohit, Marine A Merlin, Girish M Shah,

The study of causes and cures for ultraviolet B radiation (UVB)-induced non-melanoma skin cancers (NMSC) has been greatly facilitated by use of the albino SKH-1 hairless mice. These mice develop multiple tumors of different sizes and the severity of cancer is often measured by one or more of the four ... Read more >>

J. Photochem. Photobiol. B, Biol. (Journal of photochemistry and photobiology. B, Biology)
[2020, 205:111847]

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A rare case report of neurofibromatosis type 1 in a 12-year-old child: A 15-month follow-up.

Srinivas Nallanchakrava, Manoj Kumar Mallela, V Shiva Kumar Jeenepalli, H M Niharika,

Neurofibromatosis type 1 (NF-1) or von Recklinghausen's disease is a rare genetic disorder characterized by the development of multiple noncancerous (benign) tumors of nerves and skin (neurofibromas). Head-and-neck neurofibroma is generally located in the soft tissue. Here, we present a case of a 12-year-old girl with NF-1. The disease started ... Read more >>

J Oral Maxillofac Pathol (Journal of oral and maxillofacial pathology : JOMFP)
[2020, 24(Suppl 1):S106-S109]

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Medical Record Documentation About Opioid Tapering: Examining Benefit-to-Harm Framework and Patient Engagement.

Michele Buonora, Hector R Perez, Jordan Stumph, Robert Allen, Shadi Nahvi, Chinazo O Cunningham, Jessica S Merlin, Joanna L Starrels,

OBJECTIVE:Guidelines recommend that clinicians make decisions about opioid tapering for patients with chronic pain using a benefit-to-harm framework and engaging patients. Studies have not examined clinician documentation about opioid tapering using this framework. DESIGN AND SETTING:Thematic and content analysis of clinician documentation about opioid tapering in patients' medical records in ... Read more >>

Pain Med (Pain medicine (Malden, Mass.))
[2020, :]

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Knowledge gaps about rabies transmission from vampire bats to humans.

M Brock Fenton, Daniel G Streicker, Paul A Racey, Merlin D Tuttle, Rodrigo A Medellin, Mark J Daley, Sergio Recuenco, Kevin M Bakker,

Nat Ecol Evol (Nature ecology & evolution)
[2020, 4(4):517-518]

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Machine-learning classification of neurocognitive performance in children with perinatal HIV initiating de novo antiretroviral therapy.

Robert H Paul, Kyu S Cho, Andrew C Belden, Claude A Mellins, Kathleen M Malee, Reuben N Robbins, Lauren E Salminen, Stephen J Kerr, Badri Adhikari, Paola M Garcia-Egan, Jiratchaya Sophonphan, Linda Aurpibul, Kulvadee Thongpibul, Pope Kosalaraksa, Suparat Kanjanavanit, Chaiwat Ngampiyaskul, Jurai Wongsawat, Saphonn Vonthanak, Tulathip Suwanlerk, Victor G Valcour, Rebecca N Preston-Campbell, Jacob D Bolzenious, Merlin L Robb, Jintanat Ananworanich, Thanyawee Puthanakit, ,

OBJECTIVE:To develop a predictive model of neurocognitive trajectories in children with perinatal HIV (pHIV). DESIGN:Machine learning analysis of baseline and longitudinal predictors derived from clinical measures utilized in pediatric HIV. METHODS:Two hundred and eighty-five children (ages 2-14 years at baseline; Mage = 6.4 years) with pHIV in Southeast Asia underwent neurocognitive assessment ... Read more >>

AIDS (AIDS (London, England))
[2020, 34(5):737-748]

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