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https://www.readbyqxmd.com/read/28736585/late-onset-asymptomatic-pancreatic-neuroendocrine-tumor-a-case-report-on-the-phenotypic-expansion-for-men1
#1
Charu Kaiwar, Sarah K Macklin, Jennifer M Gass, Jessica Jackson, Eric W Klee, Stephanie L Hines, John A Stauffer, Paldeep S Atwal
BACKGROUND: Multiple endocrine neoplasia type 1 (MEN1) is a hereditary cancer syndrome associated with several endocrine as well as non-endocrine tumors and is caused by mutations in the MEN1 gene. Primary hyperparathyroidism affects the majority of MEN1 individuals by age 50 years. Additionally, MEN1 mutations trigger familial isolated hyperparathyroidism. We describe a seemingly unaffected 76-year-old female who presented to our Genetics Clinic with a family history of primary hyperparathyroidism and the identification of a pathogenic MEN1 variant...
2017: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/28735345/large-facial-lymphatic-malformation-treatment-using-sclerosing-agent-followed-by-surgical-resection-clinical-and-pathology-report
#2
Amir Laviv, Alexander Maly, Jawad Abu-Tair
Lymphatic malformations are rare slow-flow vascular malformations, with high tendency to appear in the head and neck region. The treatment of these lesions ranges from follow-up to sclerosing agent injection to surgical excision. The authors present a case of a new born with large extensive lingual and submandibular lymphatic malformation, for which the patient underwent tracheostomy and gastrostomy insertion. He was then treated successfully with sclerosing agent injections followed by surgical excision, with 7 years follow-up...
July 22, 2017: Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28719718/cochlear-implant-electrode-array-exposure-a-delayed-complication
#3
Christina Mishu, David A Klodd, Miriam Redleaf
Exposure of the cochlear implant electrode array as a late complication has been reported rarely in the literature. A retrospective analysis revealed 4 patients presenting with exposure of their cochlear implant electrode arrays from 2 to 17 years after implantation. Data collected from these 4 patients were surgical implantation approach, type of implant, age at implant, interval between implant and complication, surgical correction of the problem, pathology at the time of correction, and length of follow-up after intervention...
July 2017: Ear, Nose, & Throat Journal
https://www.readbyqxmd.com/read/28716765/sporadic-endolymphatic-sac-tumor-a-very-rare-cause-of-hearing-loss-tinnitus-and-dizziness
#4
Didde Trærup Schnack, Katalin Kiss, Søren Hansen, Hidemi Miyazaki, Birgitte Bech, Per Caye Thomasen
Sporadic endolymphatic sac tumor is a very rare neoplasm. It is low malignant, locally destructive and expansive, but non-metastasizing. The tumor is very rare in the sporadic form, but more often associated with Von Hippel-Lindau disease. A 65-year old man with left sided tinnitus and hearing loss for several months. Audiometry showed an asymmetrical sensory neural hearing loss on the left side up to 60 dB. The speech discrimination score was 46% and stapedial reflexes were absent. Several years earlier, he had suffered from periods of dizziness...
July 17, 2017: Journal of International Advanced Otology
https://www.readbyqxmd.com/read/28686853/wdr26-haploinsufficiency-causes-a-recognizable-syndrome-of-intellectual-disability-seizures-abnormal-gait-and-distinctive-facial-features
#5
Cara M Skraban, Constance F Wells, Preetha Markose, Megan T Cho, Addie I Nesbitt, P Y Billie Au, Amber Begtrup, John A Bernat, Lynne M Bird, Kajia Cao, Arjan P M de Brouwer, Elizabeth H Denenberg, Ganka Douglas, Kristin M Gibson, Katheryn Grand, Alice Goldenberg, A Micheil Innes, Jane Juusola, Marlies Kempers, Esther Kinning, David M Markie, Martina M Owens, Katelyn Payne, Richard Person, Rolph Pfundt, Amber Stocco, Claire L S Turner, Nienke E Verbeek, Laurence E Walsh, Taylor C Warner, Patricia G Wheeler, Dagmar Wieczorek, Alisha B Wilkens, Evelien Zonneveld-Huijssoon, Tjitske Kleefstra, Stephen P Robertson, Avni Santani, Koen L I van Gassen, Matthew A Deardorff
We report 15 individuals with de novo pathogenic variants in WDR26. Eleven of the individuals carry loss-of-function mutations, and four harbor missense substitutions. These 15 individuals comprise ten females and five males, and all have intellectual disability with delayed speech, a history of febrile and/or non-febrile seizures, and a wide-based, spastic, and/or stiff-legged gait. These subjects share a set of common facial features that include a prominent maxilla and upper lip that readily reveal the upper gingiva, widely spaced teeth, and a broad nasal tip...
July 6, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28685322/affected-female-carriers-of-mtm1-mutations-display-a-wide-spectrum-of-clinical-and-pathological-involvement-delineating-diagnostic-clues
#6
Valérie Biancalana, Sophie Scheidecker, Marguerite Miguet, Annie Laquerrière, Norma B Romero, Tanya Stojkovic, Osorio Abath Neto, Sandra Mercier, Nicol Voermans, Laura Tanner, Curtis Rogers, Elisabeth Ollagnon-Roman, Helen Roper, Célia Boutte, Shay Ben-Shachar, Xavière Lornage, Nasim Vasli, Elise Schaefer, Pascal Laforet, Jean Pouget, Alexandre Moerman, Laurent Pasquier, Pascale Marcorelle, Armelle Magot, Benno Küsters, Nathalie Streichenberger, Christine Tranchant, Nicolas Dondaine, Raphael Schneider, Claire Gasnier, Nadège Calmels, Valérie Kremer, Karine Nguyen, Julie Perrier, Erik Jan Kamsteeg, Pierre Carlier, Robert-Yves Carlier, Julie Thompson, Anne Boland, Jean-François Deleuze, Michel Fardeau, Edmar Zanoteli, Bruno Eymard, Jocelyn Laporte
X-linked myotubular myopathy (XLMTM), a severe congenital myopathy, is caused by mutations in the MTM1 gene located on the X chromosome. A majority of affected males die in the early postnatal period, whereas female carriers are believed to be usually asymptomatic. Nevertheless, several affected females have been reported. To assess the phenotypic and pathological spectra of carrier females and to delineate diagnostic clues, we characterized 17 new unrelated affected females and performed a detailed comparison with previously reported cases at the clinical, muscle imaging, histological, ultrastructural and molecular levels...
July 6, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28681861/a-defect-in-myoblast-fusion-underlies-carey-fineman-ziter-syndrome
#7
Silvio Alessandro Di Gioia, Samantha Connors, Norisada Matsunami, Jessica Cannavino, Matthew F Rose, Nicole M Gilette, Pietro Artoni, Nara Lygia de Macena Sobreira, Wai-Man Chan, Bryn D Webb, Caroline D Robson, Long Cheng, Carol Van Ryzin, Andres Ramirez-Martinez, Payam Mohassel, Mark Leppert, Mary Beth Scholand, Christopher Grunseich, Carlos R Ferreira, Tyler Hartman, Ian M Hayes, Tim Morgan, David M Markie, Michela Fagiolini, Amy Swift, Peter S Chines, Carlos E Speck-Martins, Francis S Collins, Ethylin Wang Jabs, Carsten G Bönnemann, Eric N Olson, John C Carey, Stephen P Robertson, Irini Manoli, Elizabeth C Engle
Multinucleate cellular syncytial formation is a hallmark of skeletal muscle differentiation. Myomaker, encoded by Mymk (Tmem8c), is a well-conserved plasma membrane protein required for myoblast fusion to form multinucleated myotubes in mouse, chick, and zebrafish. Here, we report that autosomal recessive mutations in MYMK (OMIM 615345) cause Carey-Fineman-Ziter syndrome in humans (CFZS; OMIM 254940) by reducing but not eliminating MYMK function. We characterize MYMK-CFZS as a congenital myopathy with marked facial weakness and additional clinical and pathologic features that distinguish it from other congenital neuromuscular syndromes...
July 6, 2017: Nature Communications
https://www.readbyqxmd.com/read/28676162/skin-and-composite-grafting-techniques-in-facial-reconstruction-for-skin-cancer
#8
REVIEW
Michael J Brenner, Jeffrey S Moyer
Skin and composite grafting provide effective resurfacing and reconstruction for cutaneous defects after excision of the malignancy. The goal is to restore a natural appearance and function while preventing distortion of the eyelid, nose, or lips. With careful planning and attention to aesthetic subunits, the surgeon can camouflage incisions and avoid blunting aesthetically sensitive sulci. The surgical plan is also informed by the pathology, as basal or squamous cell carcinomas removed by Mohs micrographic excision have different prognostic and logistical considerations from melanoma...
August 2017: Facial Plastic Surgery Clinics of North America
https://www.readbyqxmd.com/read/28671986/three-individuals-three-stories-three-burials-from-medieval-trondheim-norway
#9
Stian Suppersberger Hamre, Geir Atle Ersland, Valérie Daux, Walther Parson, Caroline Wilkinson
This article presents the life stories of three individuals who lived in Trondheim, Norway, during the 13th century. Based on skeletal examinations, facial reconstructions, genetic analyses, and stable oxygen isotope analyses, the birthplace, mobility, ancestry, pathology, and physical appearance of these people are presented. The stories are discussed within the relevant historical context. These three people would have been ordinary citizens, without any privileges out of the ordinary, which makes them quite rare in the academic literature...
2017: PloS One
https://www.readbyqxmd.com/read/28668235/severe-hypotonia-and-postnatal-growth-impairment-in-a-girl-with-a-missense-mutation-in-col1a1-implication-of-expanded-phenotypic-spectrum-of-type-i-collagenopathy
#10
Jin Sook Lee, Jieun Seo, Anna Cho, Byung Chan Lim, Murim Choi, Jung-Wook Kim, Ok-Hwa Kim, Tae-Joon Cho, Jong-Hee Chae
BACKGROUND: It is known that type I collagenopathy has a broad-spectrum phenotypic variability. Here, we report a case of a Korean girl with a heterozygous COL1A1 mutation who had an atypical presentation. CASE PRESENTATION: A 26-month-old girl presented with delayed motor development and failure to thrive. She had severe growth retardation. She exhibited right-sided plagiocephaly, blue sclerae, and facial dysmorphism, including a small pointed chin, frontal bossing, and a triangular face, but had microcephaly...
June 28, 2017: Brain & Development
https://www.readbyqxmd.com/read/28665855/lower-eyelid-reconstruction-after-ablation-of-skin-malignancies-how-far-can-we-get-in-a-single-stage-procedure
#11
Yordan Petrov Yordanov, Aylin Shef
: Reconstruction of full-thickness lower eyelid defects tends to be a devastating procedure, especially when big amount of tissue has to be removed because of oncological reasons. The applied techniques are mostly difficult to execute and multistaged, often require extensive dissection, and result in scarring and facial disfigurement.The aim of the present study is to demonstrate the authors' experience in single-staged reconstructions of full-thickness defects of the lower eyelid with local tissue only. MATERIAL AND METHODS: A retrospective analysis was conducted identifying patients with postexcisional defects after skin cancer occurring in the lower eyelid, reconstructed in 1 stage...
June 29, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28659980/comparing-facial-emotional-recognition-in-patients-with-borderline-personality-disorder-and-patients-with-schizotypal-personality-disorder-with-a-normal-group
#12
Aida Farsham, Tahereh Abbaslou, Reza Bidaki, Bonnie Bozorg
Objective: No research has been conducted on facial emotional recognition on patients with borderline personality disorder (BPD) and schizotypal personality disorder (SPD). The present study aimed at comparing facial emotion recognition in these patients with the general population. The neurocognitive processing of emotions can show the pathologic style of these 2 disorders. Method: Twenty BPD patients, 16 SPD patients, and 20 healthy individuals were selected by available sampling method. Structural Clinical Interview for Axis II, Millon Personality Inventory, Beck Depression Inventory and Facial Emotional Recognition Test was were conducted for all participants...
April 2017: Iranian Journal of Psychiatry
https://www.readbyqxmd.com/read/28658923/sturge-weber-syndrome-a-case-study
#13
Mahesh Neerupakam, Podduturi Sanjay Reddy, Beeraboina Anand Babu, Guttikonda Vamsi Krishna
The aim of this case review was to touch upon the various clinical presentations and diagnostic features of Sturge-Weber syndrome (SWS) as seen in the dental/medical practice. Sturge-Weber syndrome is a rare congenital disorder that belongs to a group of disorders collectively known as the phakomatoses. The characteristic pathological elements of the disease include leptomeninges angioma extending out to cerebral cortex with angiomatous lesions on the same side and unilateral facial nevus that affects trigeminal nerve division...
May 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28658731/-angioedema-as-initial-manifestation-of-hypogammaglobulinemia
#14
Eunice López-Rocha, Patricia O'Farril-Romanillos, Saraid Cerda-Reyes, Edgar A Medina-Torres, Sara E Espinosa-Padilla, José G Huerta-López, Lizbeth Blancas-Galicia
Common variable immunodeficiency is characterized by hypogammaglobulinemia and the inability to respond to vaccines. Patients mostly manifest infections, however only less than 5 % have pathological conditions as autoimmunity, granulomatous inflammation, and splenomegaly or lymphoproliferative disease among others, without showing infections. We report the case of a woman who debuted with localized cutaneous affection, facial angioedema, without other early symptoms. After diagnosis splenomegaly and bronchiectasis were documented...
April 2017: Revista Alergia Mexico: Organo Oficial de la Sociedad Mexicana de Alergia e Inmunología, A.C
https://www.readbyqxmd.com/read/28653228/enlargement-of-the-infraorbital-canal-following-caldwell-luc-surgery
#15
Hideyuki Fukui, Nobuo Kashiwagi, Takamichi Murakami, Yoshiyuki Watanabe, Tomoko Hyodo, Kazunari Ishi, Miho Yamakawa, Hirito Takahashi, Noriyuki Tomiyama
OBJECTIVES: The infraorbital canal (IOC), which runs in the roof of the maxillary sinus, is a useful anatomical landmark for the infraorbital nerve (ION) on computed tomography (CT) images. Enlargement of the IOC on CT images is thought to be a pathological state that usually affects the ION. However, we have frequently observed enlargement of the IOC in patients with a history of radical surgery of the maxillary sinus: so-called Caldwell-Luc (CL) surgery. In this study, the size of the IOC of the maxillary sinus was compared between patients with a history of CL surgery (post-CL IOCs) and those with no history of CL surgery (control IOCs)...
June 26, 2017: Japanese Journal of Radiology
https://www.readbyqxmd.com/read/28652825/a-familial-study-of-hallermann-streiff-fran%C3%A3-ois-syndrome
#16
E Epée, D Beleho, A T Bitang, V A Njami, C Bengondo, Côme Ebana Mvogo
Hallermann-Streiff-François syndrome is a rare sporadic genetic pathology characterized by a phenotype consisting of growth retardation, ocular abnormalities, and a "bird-like head". We hereby report a case of this syndrome found in three generations of the same family - father, daughter, and grand-daughter - who presented with a short stature and facial dysmorphic features, nystagmus, cataract, and bilateral microphthalmia. The discussion is based on the clinical and genetic aspects, and the challenges in management of this oculo-mandibulo-facial syndrome...
2017: International Medical Case Reports Journal
https://www.readbyqxmd.com/read/28652792/severe-atypical-herpes-zoster-as-an-initial-symptom-of-fatal-myelodysplastic-syndrome-with-refractory-anemia-and-blast-excess-raeb-ii
#17
Uwe Wollina, Gesina Hansel, Anja Baunacke, Georgi Tchernev
Herpes zoster is a common disease caused due to varicella zoster virus (VZV) infection with increasing incidence by age. If the patient has a severe, extended, or treatment-recalcitrant course of herpes zoster, this must be a red flag to search for underlying pathologies. Here, we report about a 64-year-old male patient with diabetes, who came to our emergency department because of general malaise, fever, chills, and a pronounced nuchal and facial swelling on the left side. Based on herpetiform-grouped vesicles and yellowish crusts, an impetiginized facial herpes zoster was diagnosed, and combined antiviral and antibiotic treatment was initiated...
2017: Clinical, Cosmetic and Investigational Dermatology
https://www.readbyqxmd.com/read/28651292/acute-onset-neurological-disorders-during-pregnancy-a-literature-review
#18
Zita Ferraz, Joana Parra, Ana Luísa Areia, Elsa Vasco, Paulo Moura
Objectives To characterize the most common peripheral and central neurological disorders during pregnancy. Methods Original research and review of the literature on neurological complications during pregnancy. We searched for keywords related to the topic on different databases. Results Pregnancy involves physiological changes that can trigger peripheral neurological and/or central nervous system pathologies, which can sometimes be associated with hypertensive disorders. A definitive diagnosis of neurological disorders can be made according to the trimester of pregnancy and the clinical findings...
June 26, 2017: Revista Brasileira de Ginecologia e Obstetrícia
https://www.readbyqxmd.com/read/28649865/dental-stem-cells-recent-progresses-in-tissue-engineering-and-regenerative-medicine
#19
João Botelho, Maria Alzira Cavacas, Vanessa Machado, José João Mendes
Since the disclosure of adult mesenchymal stem cells (MSCs) there have been an intense investigation on the characteristics of these cells and their potentialities. Dental Stem Cells (DSCs) are MSC-like populations with self-renewal capacity and multidifferentiation potential. Currently, there are five main DSCs, dental pulp stem cells (DPSCs), stem cells from exfoliated deciduous teeth (SHED), stem cells from apical papilla (SCAP), periodontal ligament stem cells (PDLSCs), and Dental Follicle Precursor Cells (DFPCs)...
June 24, 2017: Annals of Medicine
https://www.readbyqxmd.com/read/28641322/scuba-diving-and-otology-a-systematic-review-with-recommendations-on-diagnosis-treatment-and-post-operative-care
#20
REVIEW
Devon M Livingstone, Kristine A Smith, Beth Lange
Scuba diving is a popular recreational and professional activity with inherent risks. Complications related to barotrauma and decompression illness can pose significant morbidity to a diver's hearing and balance systems. The majority of dive-related injuries affect the head and neck, particularly the outer, middle and inner ear. Given the high incidence of otologic complications from diving, an evidence-based approach to the diagnosis and treatment of otic pathology is a necessity. We performed a systematic and comprehensive literature review including the pathophysiology, diagnosis, and treatment of otologic pathology related to diving...
June 2017: Diving and Hyperbaric Medicine: the Journal of the South Pacific Underwater Medicine Society
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