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https://www.readbyqxmd.com/read/27907099/analysis-of-a-mouse-skin-model-of-tuberous-sclerosis-complex
#1
Yanan Guo, John R Dreier, Juxiang Cao, Heng Du, Scott R Granter, David J Kwiatkowski
Tuberous Sclerosis Complex (TSC) is an autosomal dominant tumor suppressor gene syndrome in which patients develop several types of tumors, including facial angiofibroma, subungual fibroma, Shagreen patch, angiomyolipomas, and lymphangioleiomyomatosis. It is due to inactivating mutations in TSC1 or TSC2. We sought to generate a mouse model of one or more of these tumor types by targeting deletion of the Tsc1 gene to fibroblasts using the Fsp-Cre allele. Mutant, Tsc1ccFsp-Cre+ mice survived a median of nearly a year, and developed tumors in multiple sites but did not develop angiomyolipoma or lymphangioleiomyomatosis...
2016: PloS One
https://www.readbyqxmd.com/read/27894562/todd-s-paresis-in-acute-mild-head-trauma
#2
Alan Cowley, David Wright, Thomas Breen, Richard Lyon
We present the case of an adult male who sustained Todd's paresis after a traumatically induced seizure in a patient with an isolated facial injury. The precipitating event was head trauma from a golf club. The patient had no previous history of seizures and went on to make a complete neurologic recovery with no cerebral pathology noted. A literature review suggests that Todd's paresis after trauma is very rare as opposed to occurring in the medical or long-term brain injury settings. Although the authors acknowledge that it may occur in trauma, the awareness within the prehospital setting is sufficiently rare for this case report to be of interest to prehospital clinicians; it is important prehospital clinicians are aware of this condition...
November 2016: Air Medical Journal
https://www.readbyqxmd.com/read/27893468/linear-folliculotropic-cd30-positive-lymphomatoid-drug-reaction
#3
Yi-Chin Chen, Yu-Hung Wu
We report a unique case of probable drug-induced CD30-positive lymphomatoid reaction. A 58-year-old woman presented with bilateral facial eruptions of 3 weeks duration composed of erythematosus papules in a linear distribution. The pathological features demonstrated a dense dermal and follicular infiltrate of many medium- to large-sized atypical CD30-positive lymphoid cells. The rash resolved rapidly after discontinuation of her medication 1 week later and did not recur. This case highlights the importance of clinicopathological correlation...
November 22, 2016: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/27890767/implications-of-vestibular-schwannoma-consistency-analysis-of-140-cases-regarding-radiological-and-clinical-features
#4
Ahmed R Rizk, Abbas Adam, Isabel Gugel, Jens Schittenhelm, Marcos Tatagiba, Florian H Ebner
OBJECTIVE: To evaluate the effects of vestibular schwannoma (VS) consistency on internal auditory canal (IAC) widening, MRI-appearance, presenting symptoms and facial nerve outcome. MATERIAL AND METHODS: We performed a retrospective analysis of 140 consecutive patients presenting with unilateral VS who underwent surgical treatment in our Department. Operative videos were analyzed, and the tumors were classified into soft and firm according to the resectability with the ultrasonic aspirator at 40% power...
November 24, 2016: World Neurosurgery
https://www.readbyqxmd.com/read/27888671/sclerosing-polycystic-adenosis-of-the-parotid-gland-a-systematic-review-and-report-of-2-new-cases
#5
Carlos A Espinosa, Laura Rua, Héctor E Torres, Álvaro Fernández Del Valle, Rui P Fernandes, Juan C Devicente
PURPOSE: We sought to evaluate clinical-epidemiologic aspects, pathologic characteristics, and treatment of sclerosing polycystic adenosis (SPA) of the parotid gland and to report 2 new cases. MATERIALS AND METHODS: We conducted a systematic review following PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines for studies published in or before June 2016. The inclusion criteria were as follows: final diagnosis of SPA affecting the parotid gland and articles published in Spanish or English...
November 2, 2016: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/27882258/dysmorphic-facial-features-and-other-clinical-characteristics-in-two-patients-with-pex1-gene-mutations
#6
Mehmet Gunduz, Ozlem Unal
Peroxisomal disorders are a group of genetically heterogeneous metabolic diseases related to dysfunction of peroxisomes. Dysmorphic features, neurological abnormalities, and hepatic dysfunction can be presenting signs of peroxisomal disorders. Here we presented dysmorphic facial features and other clinical characteristics in two patients with PEX1 gene mutation. Follow-up periods were 3.5 years and 1 year in the patients. Case I was one-year-old girl that presented with neurodevelopmental delay, hepatomegaly, bilateral hearing loss, and visual problems...
2016: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/27875510/facial-evaluation-in-holoprosencephaly
#7
Valentina Pucciarelli, Simona Bertoli, Marina Codari, Pierangelo Veggiotti, Alberto Battezzati, Chiarella Sforza
Holoprosencephaly (HPE) is a malformation of the brain, occurring during the first weeks of pregnancy, that may be associated with several craniofacial alterations and different pathological conditions.The authors describe a 2-year-old girl with lobar HPE, epilepsy, but with a roughly normal face. Despite the macroscopic, clinical appearance, a facial morphometric analysis, performed through a stereophotogrammetric system, showed features that diverge from reference subjects and that are considered typical of HPE...
November 21, 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27871009/malignant-nerve-sheath-tumor-involving-glossopharyngeal-vagus-and-spinal-nerve-with-intracranial-extracranial-extension-and-systemic-metastases-in-a-patient-with-type-1-neurofibromatosis-a-case-report
#8
José Raúl Guerra-Mora, Juan D Del Castillo-Calcáneo, María Elena Córdoba-Mosqueda, Jorge Yáñez-Castro, Ulises García-González, Eduardo Soriano-Navarro, Leticia Llamas-Ceras, Rosa María Vicuña-González
INTRODUCTION: Intracranial malignant peripheral nerve sheath tumors are an extremely rare pathology with a high morbidity and mortality. Epidemiological, clinical and prognostic data are scarce and with little certainty in the literature. The aim of this paper is to report for first time in English literature, the case of a patient with type 1 neurofibromatosis, who presented a malignant peripheral nerve sheath tumor that involved the left glossopharyngeal, vagus and spinal nerves with intracranial and extracranial extension through jugular foramen and systemic metastases...
November 5, 2016: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/27857042/odontogenic-keratocysts-in-the-basal-cell-nevus-gorlin-goltz-syndrome-associated-with-paresthesia-of-the-lower-jaw-case-report-retrospective-analysis-of-a-representative-czech-cohort-and-recommendations-for-the-early-diagnosis
#9
(no author information available yet)
OBJECTIVES: Identification of early presenting signs of the Basal Cell Nevus (BCNS; synonyme Gorlin-Goltz) syndrome, which is associated with a principal triad of multiple basal cell nevi, jaw odontogenic keratocysts, and skeletal anomalies, in stomatological and neurological practices. Proposal of multidisciplinary diagnostic algorithm comprising other medical specialists, including pathology, imaging, laboratory and molecular analyses based on the study outcomes. DESIGN: Case report of a male patient reporting paresthesia of their lower jaw, with right facial asymmetry (maxilla and mandible) and radiological detection of large osteolytic lesions in both jaws, including a retrospective analysis of a representative Czech cohort with BCNS from within the last decade...
September 18, 2016: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/27847832/recurrent-parotid-carcinosarcoma-in-an-asymptomatic-patient
#10
Joshua Mansour, Abhishek Mangaonkar, Vamsi Kota
In this article, we present the case of a 52-year-old male with a history of parotid carcinosarcoma with initial diagnosis being 18 months prior. Initial treatment included a combination of gamma knife surgery coupled with high dosage chemotherapy and X-ray radiation therapy. At the time of follow-up, the patient presented with no complaints and had a nearly normal physical exam with the exception of some facial nerve weakness on the same side as the initial surgery. Despite being asymptomatic, the patient had a significant progression of disease that was manifested with intracranial lesions, multiple pathologic fractures, and a dramatic increase in overall tumor burden...
October 2016: Journal of Investigative Medicine High Impact Case Reports
https://www.readbyqxmd.com/read/27844410/the-great-mimicker-metastatic-breast-carcinoma-to-the-head-and-neck-with-emphasis-on-unusual-clinical-and-pathologic-features
#11
Dikson Dibe Gondim, Rebecca Chernock, Samir El-Mofty, James S Lewis
Distant metastases are relatively common in breast cancer, but spread to the head and neck region is uncommon and can be diagnostically challenging. Pathology databases of two academic hospitals were searched for patients. The diagnoses were by morphologic comparison with the primary breast specimen (when available) or through the use of immunohistochemical stains characteristic of breast carcinoma (cytokeratin 7, mammaglobin, GCDFP15, and/or GATA3 positive-excluding new primary tumors at the respective head and neck sites)...
November 14, 2016: Head and Neck Pathology
https://www.readbyqxmd.com/read/27836445/-masticatory-system-and-maxillofacial-prosthesis-from-pathology-to-function-recovering
#12
S Vo Quang, J Dichamp
Maxillofacial prosthesis (MFP) can be defined as the art and science of esthetic and functional reconstruction of the facial bones, art because it uses hand-crafted and empirical rules, science because of its technical rigorism and its integration in medicine. MFP aims to multidisciplinary rehabilitate patients presenting with cutaneous and underlying structures defects, It also allows for functional speech and swallowing rehabilitation related to temporo-mandibular joint disorders. Whatever the origin, (traumatic, infectious ortumoral), surgical treatment of these TMJ disorders is usually not indicated in first-line...
November 8, 2016: Revue de Stomatologie, de Chirurgie Maxillo-faciale et de Chirurgie Orale
https://www.readbyqxmd.com/read/27822947/acquired-bilateral-dyspigmentation-on-face-and-neck-clinically-appropriate-approaches
#13
You Jin Lee, Ji Hye Park, Dong Youn Lee, Jong Hee Lee
Facial dyspigmentation in Asian women often poses diagnostic and therapeutic challenges. Recently, a distinctive bilateral hyperpigmentation of face and neck has occasionally been observed. This study was performed to investigate the clinico-pathological features of this dyspigmentation as well as proper treatment approaches. We retrospectively investigated the medical records including photographs, routine laboratory tests, histopathologic studies of both lesional and peri-lesional normal skin and patch test of thirty-one patients presented acquired bizarre hyperpigmentation on face and neck...
December 2016: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/27813656/filler-migration-to-the-forehead-due-to-multiple-filler-injections-in-a-patient-addicted-to-cosmetic-fillers
#14
Chia-Hua Lin, Chien-Ping Chiang, Bai-Yao Wu, Hong-Wei Gao
Filler migration is a potential complication following the injection of multiple fillers. With the increasing popularity of multiple filler injections, migrated granulomas should be an essential differential diagnosis for newly growing facial lumps. It is important for all physicians to be aware that complication induced by dermal fillers can occur in locations other than the planned injected sites. We described a case of filler migration to the forehead due to not only two fillers injections, as the patient was addicted to cosmetic fillers...
November 4, 2016: Journal of Cosmetic and Laser Therapy: Official Publication of the European Society for Laser Dermatology
https://www.readbyqxmd.com/read/27802276/craniofacial-ciliopathies-reveal-specific-requirements-for-gli-proteins-during-development-of-the-facial-midline
#15
Ching-Fang Chang, Ya-Ting Chang, Grethel Millington, Samantha A Brugmann
Ciliopathies represent a broad class of disorders that affect multiple organ systems. The craniofacial complex is among those most severely affected when primary cilia are not functional. We previously reported that loss of primary cilia on cranial neural crest cells, via a conditional knockout of the intraflagellar transport protein KIF3a, resulted in midfacial widening due to a gain of Hedgehog (HH) activity. Here, we examine the molecular mechanism of how a loss of primary cilia can produce facial phenotypes associated with a gain of HH function...
November 2016: PLoS Genetics
https://www.readbyqxmd.com/read/27799912/understanding-mechanisms-of-gli-mediated-transcription-during-craniofacial-development-and-disease-using-the-ciliopathic-mutant-talpid-2
#16
Ya-Ting Chang, Praneet Chaturvedi, Elizabeth N Schock, Samantha A Brugmann
The primary cilium is a ubiquitous, microtubule-based organelle that cells utilize to transduce molecular signals. Ciliopathies are a group of diseases that are caused by a disruption in the structure or function of the primary cilium. Over 30% of all ciliopathies are primarily defined by their craniofacial phenotypes, which typically include midfacial defects, cleft lip/palate, micrognathia, aglossia, and craniosynostosis. The frequency and severity of craniofacial phenotypes in ciliopathies emphasizes the importance of the cilium during development of the craniofacial complex...
2016: Frontiers in Physiology
https://www.readbyqxmd.com/read/27799067/identification-of-a-rai1-associated-disease-network-through-integration-of-exome-sequencing-transcriptomics-and-3d-genomics
#17
Maria Nicla Loviglio, Christine R Beck, Janson J White, Marion Leleu, Tamar Harel, Nicolas Guex, Anne Niknejad, Weimin Bi, Edward S Chen, Isaac Crespo, Jiong Yan, Wu-Lin Charng, Shen Gu, Ping Fang, Zeynep Coban-Akdemir, Chad A Shaw, Shalini N Jhangiani, Donna M Muzny, Richard A Gibbs, Jacques Rougemont, Ioannis Xenarios, James R Lupski, Alexandre Reymond
BACKGROUND: Smith-Magenis syndrome (SMS) is a developmental disability/multiple congenital anomaly disorder resulting from haploinsufficiency of RAI1. It is characterized by distinctive facial features, brachydactyly, sleep disturbances, and stereotypic behaviors. METHODS: We investigated a cohort of 15 individuals with a clinical suspicion of SMS who showed neither deletion in the SMS critical region nor damaging variants in RAI1 using whole exome sequencing. A combination of network analysis (co-expression and biomedical text mining), transcriptomics, and circularized chromatin conformation capture (4C-seq) was applied to verify whether modified genes are part of the same disease network as known SMS-causing genes...
November 1, 2016: Genome Medicine
https://www.readbyqxmd.com/read/27793851/central-odontogenic-fibromyxoma-of-mandible-an-aggressive-odontogenic-pathology
#18
Sumit Bahl, Godishala Swamy Sugunakar Raju, Gunjan Shah, Parvin Chandarana
Myxoma of the jaws which was first described by Thoma and Goldman in 1947 is a rare neoplasm and its rate of prevalence and incidence is not available. Myxoma term, according to 1992 WHO classification, is used along with odontogenic myxoma (OM) and myxofibroma. There are two forms of myxomas or fibromyxomas that are recognised in head and neck region: one is derived from the facial skeleton and the other is derived from the soft tissue. Most of the OM are located intraosseously, but peripheral ones are also recognised...
October 28, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27793123/invasive-myoepithelial-carcinoma-ex-pleomorphic-adenoma-of-the-major-salivary-gland-two-case-reports
#19
Takahiro Wakasaki, Marie Kubota, Yutaka Nakashima, Eri Tomonobe, Takenao Mihara, Junichi Fukushima
BACKGROUND: Myoepithelial carcinoma (MEC) is a rare salivary gland tumor. Its long-term prognosis remains unknown because of the paucity of reported cases with long-term follow-up. Although some case series exist, the clinical features of MEC vary considerably depending on the site of origin. Therefore, accumulation of these rare cases is important. CASE PRESENTATION: Case 1: An 89-year-old man presented with a 10-year history of a mass originating from the right parotid gland and involving the neck...
October 28, 2016: BMC Cancer
https://www.readbyqxmd.com/read/27790599/molecular-classification-of-oral-squamous-cell-carcinoma
#20
REVIEW
Radhika Manoj Bavle, Reshma Venugopal, Paremala Konda, Sudhakara Muniswamappa, Soumya Makarla
Oral Squamous Cell Carcinoma (OSCC) is the commonest tumour in the oro-facial region with increasing incidence in the recent years. The disease is challenging as it still depicts a high morbidity and mortality rate. Clinico-pathological data, tumour site, pathologic site tumor, lymphnode, metastasis (TNM) staging, histological grade, invasion, perineural invasion and metastasis have been evaluated to a great depth in relation to OSCC. Co-morbidity factors like use of tobacco, alcohol consumption and various other factors including genetic predisposition have been looked at for finding a suitable treatment protocol...
September 2016: Journal of Clinical and Diagnostic Research: JCDR
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