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Sample records for ear malformation cardiospondylocarpofacial

  1. Reconstruction of middle ear malformations

    PubMed Central

    Schwager, Konrad

    2008-01-01

    Malformations of the middle ear are classified as minor and major malformations. Minor malformations appear with regular external auditory canal, tympanic membrane and aerated middle ear space. The conducting hearing loss is due to fixation or interruption of the ossicular chain. The treatment is surgical, following the rules of ossiculoplasty and stapes surgery. In major malformations (congenital aural atresia) there is no external auditory canal and a deformed or missing pinna. The mastoid and the middle ear space may be underdevelopped, the ossicular chain is dysplastic. Surgical therapy is possible in patients with good aeration of the temporal bone, existing windows, a near normal positioned facial nerve and a mobile ossicular chain. Plastic and reconstructive surgery of the pinna should proceed the reconstruction of the external auditory canal and middle ear. In cases of good prognosis unilateral aural atresia can be approached already in childhood. In patients with high risk of surgical failure, bone anchored hearing aids are the treatment of choice. Recent reports of implantable hearing devices may be discussed as an alternative treatment for selected patients. PMID:22073077

  2. Revision Stapedectomy in a Female Patient with Inner Ear Malformation

    PubMed Central

    Patel, Tirth R.; Moberly, Aaron C.

    2016-01-01

    Objectives. We describe an unusual case of surgical management of congenital mixed hearing loss in a female patient with inner ear malformation. This report outlines the role of temporal bone imaging and previous surgical history in evaluating a patient's risk of perilymph gusher during stapes surgery. Methods. A 68-year-old female patient with a history of profound bilateral mixed hearing loss due to ossicular and cochlear malformation presented to our otology clinic. She had undergone multiple unsuccessful previous ear surgeries. Computed tomography revealed bilateral inner ear malformations. She elected to proceed with revision stapedectomy. Results. The patient received modest benefit to hearing, and no operative complications occurred. Conclusions. Although stapedectomy has been shown to improve hearing in patients with stapes fixation, there is risk of perilymph gusher in patients with inner ear abnormalities. Evaluation and counseling of the risk of gusher during stapes surgery should be done on a case-by-case basis. PMID:27144044

  3. Surgical and Technical Modalities for Hearing Restoration in Ear Malformations.

    PubMed

    Dazert, Stefan; Thomas, Jan Peter; Volkenstein, Stefan

    2015-12-01

    Malformations of the external and middle ear often go along with an aesthetic and functional handicap. Independent of additional aesthetic procedures, a successful functional hearing restoration leads to a tremendous gain in quality of life for affected patients. The introduction of implantable hearing systems (bone conduction and middle ear devices) offers new therapeutic options in this field. We focus on functional rehabilitation of patients with malformations, either by surgical reconstruction or the use of different implantable hearing devices, depending on the disease itself and the severity of malformation as well as hearing impairment. Patients with an open ear canal and minor malformations are good candidates for surgical hearing restoration of middle ear structures with passive titanium or autologous implants. In cases with complete fibrous or bony atresia of the ear canal, the most promising functional outcome and gain in quality of life can be expected with an active middle ear implant or a bone conduction device combined with a surgical aesthetic rehabilitation in a single or multi-step procedure. Although the surgical procedure for bone conduction devices is straightforward and safe, more sophisticated operations for active middle ear implants (e.g., Vibrant Soundbridge, MED-EL, Innsbruck, Austria) provide an improved speech discrimination in noise and the ability of sound localization compared with bone conduction devices where the stimulation reaches both cochleae. PMID:26667632

  4. Middle ear malformations in identical twins.

    PubMed

    Kidowaki, Naoko; Kamitani, Toru; Nakamura, Takashi; Taki, Masakatsu; Sakaguchi, Hirofumi; Suzuki, Toshihiro; Hisa, Yasuo

    2014-06-01

    The majority of the congenital anomalies of middle ear are solitary and a non-hereditary. We report cases of identical twins with congenital incudo-stapedial disconnection. Case 1 was an 8-year-old girl. Hearing impairment was identified at the age of three. She was referred to our university hospital in April 2005. Pure-tone audiogram showed conductive hearing impairments. Computed tomography (CT) revealed the incudo-stapedial disconnections in both ears. The exploratory tympanotomies on the right and left ears were performed in May and July 2005, respectively. The surgical findings showed absence of the long process and presence of the lenticular process of the incus in both ears. After the reconstructions of ossicular chain, the hearing of both ears improved. Case 2 was an 11-year-old girl. The hearing impairment of the right ear was identified in May 2008. She was referred to our university hospital three months later. Pure-tone audiogram showed the conductive hearing impairment in the right ear. CT revealed the incudo-stapedial disconnection in the right ear. The surgery showed the same findings as those of case 1. Anomalies of both cases suggest that the lenticular process of the incus and the stapes originate from a common primordium. PMID:24355584

  5. [Congenital malformations of the external and middle ear].

    PubMed

    Wang, Zhaoyan; Yang, Jun; Wu, Hao

    2013-07-01

    Congenital malformations of the external and middle ear is the common reason of pediatric hearing impairment and cosmic problem. The treatment composes of auricular plastic surgery and auditory reconstruction surgery. The use of BAHA, vibrant sound-bridge and tissue engineering materials can significantly improve the treatment outcomes. PMID:24073571

  6. Heterozygous Mutations in MAP3K7, Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome.

    PubMed

    Le Goff, Carine; Rogers, Curtis; Le Goff, Wilfried; Pinto, Graziella; Bonnet, Damien; Chrabieh, Maya; Alibeu, Olivier; Nistchke, Patrick; Munnich, Arnold; Picard, Capucine; Cormier-Daire, Valérie

    2016-08-01

    Cardiospondylocarpofacial (CSCF) syndrome is characterized by growth retardation, dysmorphic facial features, brachydactyly with carpal-tarsal fusion and extensive posterior cervical vertebral synostosis, cardiac septal defects with valve dysplasia, and deafness with inner ear malformations. Whole-exome sequencing identified heterozygous MAP3K7 mutations in six distinct CSCF-affected individuals from four families and ranging in age from 5 to 37 years. MAP3K7 encodes transforming growth factor β (TGF-β)-activated kinase 1 (TAK1), which is involved in the mitogen-activated protein kinase (MAPK)-p38 signaling pathway. MAPK-p38 signaling was markedly altered when expression of non-canonical TGF-β-driven target genes was impaired. These findings support the loss of transcriptional control of the TGF-β-MAPK-p38 pathway in fibroblasts obtained from affected individuals. Surprisingly, although TAK1 is located at the crossroad of inflammation, immunity, and cancer, this study reports MAP3K7 mutations in a developmental disorder affecting mainly cartilage, bone, and heart. PMID:27426734

  7. Fistula of stapes footplate caused by pulsatile cerebrospinal fluid in inner ear malformation.

    PubMed

    Hoppe, F; Hagen, R; Hofmann, E

    1997-01-01

    Congenital malformations of the inner ear are well described, though the combination with cerebrospinal fluid (CSF) leaks remains controversial. In this paper a case of a bilateral Mondini malformation with a CSF otorrhea on one side is reported. The malformed stapes contains a perforation in the middle of the footplate and associated thinning analogous to a pothole in a mountain stream. The histological findings support the hypothesis of pulsatile flow of CSF as origin of the perforation of the footplate. PMID:9166882

  8. Ear malformation and hearing loss in patients with Treacher Collins syndrome.

    PubMed

    Pron, G; Galloway, C; Armstrong, D; Posnick, J

    1993-01-01

    Although the hearing loss of patients with Treacher Collins syndrome is well documented, few studies have reported jointly on their hearing loss and ear pathology. This paper reports on the hearing loss and computerized tomography (CT) assessments of ear malformations in a large pediatric series of patients with Treacher Collins. Of the 29 subjects assessed by the Craniofacial Program between 1986 and 1990, paired audiologic and complete CT assessments were available for 23 subjects. The external ear canal abnormalities were largely symmetric, either bilaterally stenotic or atretic. In most cases, the middle ear cavity was bilaterally hypoplastic and dysmorphic, and ossicles were symmetrically dysmorphic or missing. Inner ear structures were normal in all patients. The majority of patients had a unilateral or bilateral moderate or greater degree of hearing loss and almost half had an asymmetric hearing loss. The hearing loss of all subjects was conductive, except for three whose loss was bilateral mixed. Two types of bilaterally symmetric hearing loss configurations, flat and reverse sloping, were noted. Conductive hearing loss in patients with Treacher Collins is mainly attributable to their middle ear malformations, which are similar for those of patients with malformed or missing ossicles. PMID:8418881

  9. Cochlear implantation in patients with inner ear bone malformations with posterior labyrinth involvement: an exploratory study.

    PubMed

    Palomeque Vera, Juan Miguel; Platero Sánchez-Escribano, María; Gómez Hervás, Javier; Fernández Prada, María; González Ramírez, Amanda Rocío; Sainz Quevedo, Manuel

    2016-04-01

    Inner ear bone malformations are one cause of profound sensorineural hearing loss. This investigation focused on those affecting the posterior labyrinth, especially enlarged vestibular aqueduct syndrome, which is associated with fluctuating and progressive hearing loss. The objectives of this study were to analyze the behavior of the electrical stimulation, auditory functionality and linguistic development in patients with inner ear malformations involving the posterior labyrinth. The study included ten patients undergoing cochlear implantation (cases: five with enlarged vestibular aqueduct, two with vestibular aqueduct stenosis/aplasia, and three with semicircular canal disorders). Post-implantation, data were gathered on the electrical stimulation threshold and maximum comfort levels and on the number of functioning electrodes. Evaluation of Auditory Responses to Speech (EARS) subtests were used to assess auditory functionality and language acquisition at 6, 12, and 24 months post-implantation. Results were compared with findings in a control group of 28 cochlear implantation patients without these malformations. No significant differences were found between case and control groups in electrical stimulation parameters; auditory functionality subtest scores were lower in cases than controls, although the difference was only statistically significant for some subtests. In conclusion, cochlear implantation patients with posterior labyrinth bone malformations and profound hearing loss, including those with enlarged vestibular aqueduct syndrome, showed no significant difference in electrical stimulation threshold with controls. Although some auditory functionality test results were lower in cases than in controls, cochlear implantation appears to be beneficial for all patients with these malformations. PMID:25971996

  10. Congenital Malformations of the Inner Ear: Case Series and Review of the Literature.

    PubMed

    Piromchai, Patorn; Kasemsiri, Pornthep; Thanawirattananit, Panida; Yimtae, Kwanchanok

    2015-08-01

    Patients with craniofacial anomalies often present to doctors due to their noticeable disfigurement and are routinely assessed by otolaryngologists for hearing evaluation. However, small percentage of craniofacial anomaly patients may present with delayed speech though they may not have initial obvious external deformation. The objective of case series is to identify the congenital inner ear malformation. The series of clinical presentation, physical examination, investigations, treatments and follow-up results were demonstrated followed by the discussion. PMID:26742393

  11. Vibrant Soundbridge and Bone Conduction Hearing Aid in Patients with Bilateral Malformation of External Ear

    PubMed Central

    Mondelli, Maria Fernanda Capoani Garcia; Mariano, Thais Cristina Barbosa; Honório, Heitor Marques; Brito, Rubens Vuono de

    2015-01-01

    Introduction Hearing loss is the most common clinical finding in patients with malformation of the external ear canal. Among the possibilities of treatment, there is the adaptation of hearing aids by bone conduction and the adaptation of implantable hearing aids. Objective To assess speech perception with the use of Vibrant Soundbridge (VBS - MED-EL, Innsbruck, Austria) associated with additional amplification in patients with bilateral craniofacial malformation. Method We evaluated 11 patients with bilateral malformation over 12 years with mixed hearing loss or bilateral conductive. They were using the Softband (Oticon Medical, Sweden) and bone conduction hearing aid in the ear opposite the one with the VSB. We performed the evaluation of speech perception using the Hearing in Noise Test. Results Participants were eight men and three women with a mean of 19.5 years. The signal / noise ratio presented significant results in patients fitted with VSB and bone conduction hearing aid. Conclusion The results of speech perception were significantly better with use of VBS combined with bone conduction hearing aids. PMID:26722343

  12. Middle and inner ear malformations in two siblings exposed to valproic acid during pregnancy: a case report.

    PubMed

    Van Houtte, Evelyne; Casselman, Jan; Janssens, Sandra; De Kegel, Alexandra; Maes, Leen; Dhooge, Ingeborg

    2014-11-01

    Valproic acid (VPA) is a known teratogenic drug. Exposure to VPA during the pregnancy can lead to a distinct facial appearance, a cluster of major and minor anomalies and developmental delay. In this case report, two siblings with fetal valproate syndrome and a mild conductive hearing loss were investigated. Radiologic evaluation showed middle and inner ear malformations in both children. Audiologic, vestibular and motor examination was performed. This is the first case report to describe middle and inner ear malformations in children exposed to VPA. PMID:25216807

  13. FGF23 Deficiency Leads to Mixed Hearing Loss and Middle Ear Malformation in Mice

    PubMed Central

    Lysaght, Andrew C.; Yuan, Quan; Fan, Yi; Kalwani, Neil; Caruso, Paul; Cunnane, MaryBeth; Lanske, Beate; Stanković, Konstantina M.

    2014-01-01

    Fibroblast growth factor 23 (FGF23) is a circulating hormone important in phosphate homeostasis. Abnormal serum levels of FGF23 result in systemic pathologies in humans and mice, including renal phosphate wasting diseases and hyperphosphatemia. We sought to uncover the role FGF23 plays in the auditory system due to shared molecular mechanisms and genetic pathways between ear and kidney development, the critical roles multiple FGFs play in auditory development and the known hearing phenotype in mice deficient in klotho (KL), a critical co-factor for FGF23 signaling. Using functional assessments of hearing, we demonstrate that Fgf mice are profoundly deaf. Fgf mice have moderate hearing loss above 20 kHz, consistent with mixed conductive and sensorineural pathology of both middle and inner ear origin. Histology and high-voltage X-ray computed tomography of Fgf mice demonstrate dysplastic bulla and ossicles; Fgf mice have near-normal morphology. The cochleae of mutant mice appear nearly normal on gross and microscopic inspection. In wild type mice, FGF23 is ubiquitously expressed throughout the cochlea. Measurements from Fgf mice do not match the auditory phenotype of Kl−/− mice, suggesting that loss of FGF23 activity impacts the auditory system via mechanisms at least partially independent of KL. Given the extensive middle ear malformations and the overlap of initiation of FGF23 activity and Eustachian tube development, this work suggests a possible role for FGF23 in otitis media. PMID:25243481

  14. Cochlear implant and inner ear malformation. Proposal for an hyperosmolar therapy at surgery.

    PubMed

    Loundon, Natalie; Leboulanger, Nicolas; Maillet, Janine; Riggouzzo, Agnès; Richard, Patrick; Marlin, Sandrine; Garabedian, Erea Noel

    2008-04-01

    The objective of this retrospective study is to evaluate the efficiency of hyperosmolar therapy for cerebrum spinal fluid (CSF) leakage in cochlear implant (CI) surgery in children with inner ear malformations. Between 1991 and 2006, 490 cochlear implantations were performed in Armand Trousseau Children's Hospital. Thirty-seven patients (7.5%) had inner ear malformation. They were classified as isolated enlargement of the vestibular aqueduct (EVA) (18 cases), incomplete partition (IP) (11 cases), common cavity (CC) (1 case) and variable canal and vestibular malformations (VSCC) (7 cases). A hyperosmolar protocol was applied during surgery to 13 patients after 2003 (Gp) to be compared to the 24 patients without treatment previously to this date (G0). Mean age at implant CI was 8.1 years (1-20 years), mean follow up was 3.9 years (1 month-15 years). Per operative observations were collected for all patients with an empiric method of evaluation of the leakage. A grading using five steps ranged from Grade 0 (no leak) to Grade 4 (gusher). Grading, complications and perceptive results in closed and open set word (Lafon lists) at respectively preoperatively, at 3 and 24 months were gathered and compared between the two groups. Important per operative leak was observed (Grade 4) in 24.3% cases (9/37) of Grade 4, 88.8% of them in G0 (8/9). In 66.6% cases there was a severe dysplasia (CC or IP) (6/9), to be compared to the 21.4% of cases of severe dysplasia with Grade<3 (6/28) (p=0.02). Grade 4 was seen in 45% cases of IP (5/11); it represented 33.3% of the IP in Gp (1/3), and 50% of the IP in G0 (4/8) (p>0.05). Grade 4 was seen in 16.6% cases of EVA (3/18); there were no Grade 4 observed in Gp (0/10), and 37.5% cases of EVA in G0 (3/8) (p=0.04). Grade 4 was observed in 100% case in CC in the G0 (1/1). Severe complications were misplacement of the electrode in one case (G0), persistent leakage in one case (G0) and meningitis in one case (Gp). Vertigo was observed in 29.7% of

  15. [One case of a pregnant femal taking realgar induceing congenital inner ear malformation].

    PubMed

    Diao, Mingfang; Sun, Jianjun; Liu, Yang

    2015-08-01

    A pregnant female taken realgar because of superstition, which caused the baby congenital deafness. Auditory test indicated that bilateral auditory brainstem response (ABR) hearing threshold level was greater than 90 dB nHL and auditory steady state response (ASSR) hearing level ranging from 0.5 kHz to 4 kHz was beyond 110 dB HL. Temporal bone CT showed that bilateral cochlear and semicircular canal malformations, with internal auditory canal broadened. PMID:26685413

  16. Optical and tomographic imaging of a middle ear malformation in the bullfrog (Rana catesbeiana)

    NASA Astrophysics Data System (ADS)

    Horowitz, Seth S.; Simmons, Andrea Megela; Ketten, Darlene R.

    2005-08-01

    Using a combination of in vivo computerized tomography and histological staining, a middle ear anomaly in two wild-caught American bullfrogs (Rana catesbeiana) is characterized. In these animals, the tympanic membrane, extrastapes, and pars media (shaft) of the stapes are absent on one side of the head, with the other side exhibiting normal morphology. The pars interna (footplate) of the stapes and the operculum are present in their normal positions at the entrance of the otic capsule on both the affected and unaffected sides. The pattern of deformity suggests a partial failure of development of tympanic pathway tissues, but with a preservation of the opercularis pathway. While a definitive proximate cause of the condition could not be determined, the anomalies show similarities to developmental defects in mammalian middle ear formation.

  17. Fusion of the ear bones

    MedlinePlus

    Fusion of the ear bones is the joining of the bones of the inner ear. These are the incus, malleus, and stapes bones. Related topics include: Chronic ear infection Otosclerosis Middle ear malformations

  18. Pierced Ears

    MedlinePlus

    ... Homework? Here's Help White House Lunch Recipes Pierced Ears KidsHealth > For Kids > Pierced Ears Print A A ... cool, but infected ears do not! Getting Your Ears Pierced It's important to get your ears pierced ...

  19. Amphibian malformations

    USGS Publications Warehouse

    National Wildlife Health Center

    1998-01-01

    Frog malformations have been reported from 42 states. The broad geographic distribution of these malformations warrants national attention. Scientists at the USGS National Wildlife Health Center in Madison, Wisconsin are studying this problem in an effort to document its scope and to determine the causes of the observed malformations.

  20. Swimmer's Ear

    MedlinePlus

    ... Homework? Here's Help White House Lunch Recipes Swimmer's Ear KidsHealth > For Kids > Swimmer's Ear Print A A ... How Do I Know if I Have Swimmer's Ear? Swimmer's ear may start with some itching, but ...

  1. Ear Tubes

    MedlinePlus

    ... Meeting Calendar Find an ENT Doctor Near You Ear Tubes Ear Tubes Patient Health Information News media ... and throat specialist) may be considered. What are ear tubes? Ear tubes are tiny cylinders placed through ...

  2. Ear Infections

    MedlinePlus

    MENU Return to Web version Ear Infections Overview How does the ear work? A tube called the eustachian (say: "you-stay-shee-an") tube connects the middle ear with the back of the nose. Normally this ...

  3. Cauliflower Ear

    MedlinePlus

    ... Here's Help White House Lunch Recipes What's Cauliflower Ear? KidsHealth > For Kids > What's Cauliflower Ear? Print A A A Text Size Have you ever seen someone whose ear looks bumpy and lumpy? The person might have ...

  4. Ear Disorders

    MedlinePlus

    ... ear, where they make your eardrum vibrate. The vibrations are transmitted through three tiny bones, called ossicles, in your middle ear. The vibrations travel to your inner ear, a snail-shaped ...

  5. Swimmer's ear

    MedlinePlus

    ... such as acetaminophen (Tylenol) or ibuprofen (Advil, Motrin) Vinegar (acetic acid) ear drops People with chronic swimmer's ear may ... drop of alcohol with 1 drop of white vinegar and placing the mixture into the ears after ...

  6. Chiari Malformation

    MedlinePlus

    Chiari malformations (CMs) are structural defects in the cerebellum. The cerebellum is the part of the brain that controls balance. With CM, brain tissue extends into the spinal canal. It can happen when part of the skull is too ...

  7. Arteriovenous Malformation

    MedlinePlus

    ... to the formation of brain AVMs. NIH Patient Recruitment for Arteriovenous Malformation Clinical Trials At NIH Clinical Center Throughout the U.S. and Worldwide NINDS Clinical Trials Organizations Column1 Column2 Brain Aneurysm Foundation 269 Hanover Street, ...

  8. Brain Malformations

    MedlinePlus

    Most brain malformations begin long before a baby is born. Something damages the developing nervous system or causes it ... medicines, infections, or radiation during pregnancy interferes with brain development. Parts of the brain may be missing, ...

  9. Ear Pieces

    ERIC Educational Resources Information Center

    DiJulio, Betsy

    2011-01-01

    In this article, the author describes an art project wherein students make fanciful connections between art and medicine. This project challenges students to interpret "ear idioms" (e.g. "blow it out your ear," "in one ear and out the other") by relying almost entirely on realistic ear drawings, the placement of them, marks, and values. In that…

  10. Chiari Malformation

    MedlinePlus

    ... Ones & When? Smart School Lunches Emmy-Nominated Video "Cerebral Palsy: Shannon's Story" 5 Things to Know About Zika & ... spine that can lead to nerve damage or paralysis. Chiari malformations also can happen after brain or spinal surgery. Doctors haven't identified a ...

  11. Ear wax

    MedlinePlus

    ... in the ear: Baby oil Commercial drops Glycerin Mineral oil Water Another method is to wash out the ... cloth or paper tissue wrapped around your finger. Mineral oil can be used to moisturize the ear and ...

  12. Ear examination

    MedlinePlus

    ... page: //medlineplus.gov/ency/article/003340.htm Ear examination To use the sharing features on this page, ... ear References King EF, Couch ME. History, physical examination, and the preoperative evaluation. In: Flint PW, Haughey ...

  13. Ear emergencies

    MedlinePlus

    ... the ear. CUTS ON THE OUTER EAR Apply direct pressure until the bleeding stops. Cover the injury ... Mosby; 2013:chap 143. Thomas SH, Goodloe JM. Foreign bodies. In: Marx JA, Hockberger RS, Walls RM, ...

  14. Your Ears

    MedlinePlus

    ... Protect your hearing by wearing earplugs at loud music concerts and around noisy machinery, like in wood ... For Parents MORE ON THIS TOPIC Can Loud Music Hurt My Ears? What Is an Ear Infection? ...

  15. Ear wax

    MedlinePlus

    ... water to drain. You may need to repeat irrigation several times. To avoid damaging your ear or ... who may remove the wax by: Repeating the irrigation attempts Suctioning the ear canal Using a small ...

  16. Ear barotrauma

    MedlinePlus

    Barotitis media; Barotrauma; Ear popping; Pressure-related ear pain; Eustachian tube dysfunction ... The air pressure in the middle ear is most often the same as the air pressure outside of the body. The Eustachian tube is a connection between the middle ...

  17. Ear Infections

    MedlinePlus

    ... affects the middle ear and is called otitis media. The tubes inside the ears become clogged with fluid and mucus. This can affect hearing, because sound cannot get through all that fluid. If your child isn't old enough to say "My ear ...

  18. Super Ears.

    ERIC Educational Resources Information Center

    Thompson, Stan

    1995-01-01

    Presents an activity in which students design, construct, and test "super ears" to investigate sound and hearing. Students work in groups of three and explore how the outer ear funnels sound waves to the inner ear and how human hearing compares to that of other animals. (NB)

  19. The ear: Diagnostic imaging

    SciTech Connect

    Vignaud, J.; Jardin, C.; Rosen, L.

    1986-01-01

    This is an English translation of volume 17-1 of Traite de radiodiagnostic and represents a reasonably complete documentation of the diseases of the temporal bone that have imaging manifestations. The book begins with chapters on embryology, anatomy and radiography anatomy; it continues with blood supply and an overview of temporal bone pathology. Subsequent chapters cover malformations, trauma, infections, tumors, postoperative changes, glomus tumors, vertebasilar insufficiency, and facial nerve canal lesions. A final chapter demonstrates and discusses magnetic resonance images of the ear and cerebellopontine angle.

  20. Dysmorphism of the middle ear: case report.

    PubMed

    Solero, P; Ferrara, M; Musto, R; Pira, A; Di Lisi, D

    2005-10-01

    Although there are numerous publications in the literature describing the wide range of diagnosis, classifications and treatment of malformations of the hearing apparatus, even more variations can be found in clinical practice. Indeed, each individual case is unique as far as concerns pathogenesis, clinical course and treatment. The case reported herein describes a 12-year-old boy affected by cranio-facial dysmorphism and monolateral conductive hearing loss in the right ear: followed from radiological diagnosis--carried out to study a malformation of the ear pinna--to surgical treatment. PMID:16602328

  1. Dysmorphism of the middle ear: case report

    PubMed Central

    Solero, P; Ferrara, M; Musto, R; Pira, A; Di Lisi, D

    2005-01-01

    Summary Although there are numerous publications in the literature describing the wide range of diagnosis, classifications and treatment of malformations of the hearing apparatus, even more variations can be found in clinical practice. Indeed, each individual case is unique as far as concerns pathogenesis, clinical course and treatment. The case reported herein describes a 12-year-old boy affected by cranio-facial dysmorphism and monolateral conductive hearing loss in the right ear: followed from radiological diagnosis – carried out to study a malformation of the ear pinna – to surgical treatment. PMID:16602328

  2. Anorectal malformations

    PubMed Central

    Gangopadhyay, Ajay Narayan; Pandey, Vaibhav

    2015-01-01

    Anorectal malformations (ARMs) are among the more frequent congenital anomalies encountered in paediatric surgery, with an estimated incidence ranging between 1 in 2000 and 1 in 5000 live births. Antenatal diagnosis of an isolated ARM is rare. Most cases are diagnosed in the early neonatal period. There is a wide spectrum of presentation ranging from low anomalies with perineal fistula having simple management to high anomalies with complex management. Advances in the imaging techniques with improvement in knowledge of the embryology, anatomy and physiology of ARM cases have refined diagnosis and initial management. There has been marked improvement in survival of such patient over the last century. The management of ARM has moved forward from classical procedures to PSARP to minimal invasive procedures. But still the fecal and urinary incontinence can occur even with an excellent anatomic repair, mainly due to associated problems. There has been a paradigm shift in approach to these patients which involves holistic approach to the syndrome of Anorectal malformations with a long term goal of achievement of complete fecal and urinary continence with excellent quality of life. PMID:25552824

  3. Elephant ear

    MedlinePlus

    Elephant ear plants are indoor or outdoor plants with very large, arrow-shaped leaves. Poisoning may occur if you ... The harmful substances in elephant ear plants are: Oxalic acid ... plant Note: Leaves and stems are the most dangerous when eaten ...

  4. Ear Problems

    MedlinePlus

    ... this condition. Try an over-the-counter decongestant medicine for a few days. Putting a warm heating pad on your ear may help relieve the pain. If the pain is intense or doesn't go away in 1 or 2 days, see your doctor. No 9. Do you have tooth pain on the same side as the ear ...

  5. Elephant ear

    MedlinePlus

    The harmful substances in elephant ear plants are: Oxalic acid Asparagine, a protein found in this plant Note: ... days to a week if treated correctly. Rarely, oxalic acid may cause swelling severe enough to block the ...

  6. Swimmer's ear

    MedlinePlus

    ... or a respiratory infection such as a cold. Swimming in unclean water can lead to swimmer's ear. ... very well after it has gotten wet. Avoid swimming in polluted water. Use earplugs when swimming. Try ...

  7. Meningitis after cochlear implantation in Mondini malformation.

    PubMed

    Page, E L; Eby, T L

    1997-01-01

    Although the potential for CSF leakage and subsequent meningitis after cochlear implantation in the malformed cochlea has been recognized, this complication has not been previously reported. We report a case of CSF otorhinorrhea and meningitis after minor head trauma developing 2 years after cochlear implantation in a child with Mondini malformation. Leakage of CSF was identified from the cochleostomy around the electrode of the implant, and this leak was sealed with a temporalis fascia and muscle plug. Although this complication appears to be rare, care must be taken to seal the cochleostomy in children with inner ear malformations at the initial surgery, and any episode of meningitis after surgery must be thoroughly investigated to rule out CSF leakage from the labyrinth. PMID:9018266

  8. Cosmetic ear surgery

    MedlinePlus

    Otoplasty; Ear pinning; Ear surgery - cosmetic; Ear reshaping; Pinnaplasty ... 31. Thorne CH. Otoplasty. In: Neligan PC, ed. Plastic Surgery . 3rd ed. Philadelphia, PA: Elsevier Saunders; 2013:chap ...

  9. Outcome of cochlear implantation in children with cochlear malformations.

    PubMed

    Bille, Jesper; Fink-Jensen, Vibeke; Ovesen, Therese

    2015-03-01

    The objective of the study was the evaluation of outcomes of cochlear implantation (CI) in children with cochlear malformations. A retrospective case-control study was conducted in a tertiary referral centre. The patients were children with inner ear malformation judged by high-resolution computed tomography and magnetic resonance imaging treated with uni- or bilateral CI and a follow-up period of at least 3 years. They were matched with a control group of children operated for other reasons. The patients were operated by one of two surgeons using similar techniques including a standard perimodiolar electrode in all cases. The intervention was therapeutic and rehabilitative. The main outcome measures were category of auditory performance (CAP) and speech intelligibility rating (SIR). Eighteen children were diagnosed with cochlear malformations (12 % of children receiving CI). No statistical differences regarding CAP and SIR scores were found between the two groups. Only one child was diagnosed with a common cavity and performed below average. Children with auditory neuropathy performed beyond average. Children with cochlear malformations performed equally to children without malformation in the long term. Standard perimodiolar electrodes can be used despite cochlear malformations. The most important factors determining the outcome is the age of the child at the time of implantation and duration of hearing loss before CI. Awareness towards an increased risk of complications in case of inner ear malformations is recommended. PMID:24407715

  10. Ear Plastic Surgery

    MedlinePlus

    ... Meeting Calendar Find an ENT Doctor Near You Ear Plastic Surgery Ear Plastic Surgery Patient Health Information ... they may improve appearance and self-confidence. Can Ear Deformities Be Corrected? Formation of the ear during ...

  11. Autoimmune Inner Ear Disease

    MedlinePlus

    ... Find an ENT Doctor Near You Autoimmune Inner Ear Disease Autoimmune Inner Ear Disease Patient Health Information ... with a hearing loss. How Does the Healthy Ear Work? The ear has three main parts: the ...

  12. Better Ear Health

    MedlinePlus

    ... Calendar Find an ENT Doctor Near You Better Ear Health Better Ear Health Patient Health Information News ... often helpful to those with this condition. Swimmer’s Ear An infection of the outer ear structures caused ...

  13. How the Ear Works

    MedlinePlus

    ... Find an ENT Doctor Near You How the Ear Works How the Ear Works Patient Health Information News media interested in ... public relations staff at newsroom@entnet.org . The ear has three main parts: the outer ear (including ...

  14. Cosmetic ear surgery

    MedlinePlus

    Otoplasty; Ear pinning; Ear surgery - cosmetic; Ear reshaping; Pinnaplasty ... Cosmetic ear surgery may be done in the surgeon's office, an outpatient clinic, or a hospital. It can be performed under ...

  15. Ear defects.

    PubMed

    Shonka, David C; Park, Stephen S

    2009-08-01

    The projection and exposure of the auricle make it particularly susceptible to actinic injury and thus to cutaneous malignancies. Auricular reconstruction is challenging because of its unique surface anatomy and undulating topography. This article organizes auricular defects into different categories based on anatomic location and extent of tissue loss, including skin-only defects, small composite defects, full-thickness defects involving or sparing the upper third of the ear, and total auricular loss. The authors share an algorithm for repair of the array of auricular defects. PMID:19698921

  16. Intraoral venous malformation with phleboliths

    PubMed Central

    Mohan, Ravi Prakash S.; Dhillon, Manu; Gill, Navneet

    2011-01-01

    The most common type of vascular malformation is the venous malformation and these are occasionally associated with phleboliths. We report a case of a 45 year old woman with intraoral venous malformation with phleboliths. PMID:24151422

  17. Ears and Altitude

    MedlinePlus

    ... Meeting Calendar Find an ENT Doctor Near You Ears and Altitude Ears and Altitude Patient Health Information ... uncomfortable feeling of fullness or pressure. Why do ears pop? Normally, swallowing causes a little click or ...

  18. Ear tube insertion

    MedlinePlus

    Myringotomy; Tympanostomy; Ear tube surgery; Pressure equalization tubes; Ventilating tubes; Ear infection - tubes; Otitis - tubes ... trapped fluid can flow out of the middle ear. This prevents hearing loss and reduces the risk ...

  19. Ear tube insertion - slideshow

    MedlinePlus

    ... this page: //medlineplus.gov/ency/presentations/100045.htm Ear tube insertion - series—Normal anatomy To use the ... 4 Overview The eardrum (tympanic membrane) separates the ear canal from the middle ear. Update Date 8/ ...

  20. Cerebellar and Brainstem Malformations.

    PubMed

    Poretti, Andrea; Boltshauser, Eugen; Huisman, Thierry A G M

    2016-08-01

    The frequency and importance of the evaluation of the posterior fossa have increased significantly over the past 20 years owing to advances in neuroimaging. Conventional and advanced neuroimaging techniques allow detailed evaluation of the complex anatomic structures within the posterior fossa. A wide spectrum of cerebellar and brainstem malformations has been shown. Familiarity with the spectrum of cerebellar and brainstem malformations and their well-defined diagnostic criteria is crucial for optimal therapy, an accurate prognosis, and correct genetic counseling. This article discusses cerebellar and brainstem malformations, with emphasis on neuroimaging findings (including diagnostic criteria), neurologic presentation, systemic involvement, prognosis, and recurrence. PMID:27423798

  1. Pediatric neuroanesthesia. Arteriovenous malformations.

    PubMed

    Newfield, P; Hamid, R K

    2001-06-01

    Intracranial arteriovenous malformations can occur singly, multiply, and in conjunction with aneurysms and denovo, family, or in conjunction with connective-tissue disorders. Intracranial hemorrhage is the most common presentation, occurring in 20% to 50% of cases. In children, seizures are the second most common presentation occurring in 15% to 20% of cases. The modalities available treatment of arteriovenous malformations are microsurgery, embolization, and stereotactic radiosurgery with heavy particles, alpha knife, or linear accelerator. Induction, maintenance, and emergence from anesthesia are designed to prevent rupture of arteriovenous malformation and aneurysm and to improve intracranial compliance in the presence of an intracranial hematoma, during both diagnostic (CT, MR scanning) and therapeutic procedures. PMID:11469062

  2. Ear surgery - slideshow

    MedlinePlus

    ... this page: //medlineplus.gov/ency/presentations/100016.htm Ear surgery - series—Normal anatomy To use the sharing ... Overview This image demonstrates normal appearance of the ears in relation to the face. Update Date 10/ ...

  3. Middle ear infection (image)

    MedlinePlus

    A middle ear infection is also known as otitis media. It is one of the most common of childhood infections. With this illness, the middle ear becomes red, swollen, and inflamed because of bacteria ...

  4. Ear Infection and Vaccines

    MedlinePlus

    ... an ENT Doctor Near You Ear Infection and Vaccines Ear Infection and Vaccines Patient Health Information News ... or may need reinsertion over time. What about vaccines? A vaccine is a preparation administered to stimulate ...

  5. Ear Infections in Children

    MedlinePlus

    ... shaped organ that converts sound vibrations from the middle ear into electrical signals. The auditory nerve carries these signals from the cochlea to the brain. Other nearby parts of the ear also can be involved in ...

  6. Ear infection - chronic

    MedlinePlus

    ... or wearing away of the bones of the middle ear, which help with hearing Paralysis of the face Inflammation around the brain ( epidural abscess ) or in the brain Damage to the part of the ear that helps with balance Hearing ...

  7. Ear drainage culture

    MedlinePlus

    ... needed. Your health care provider will use a cotton swab to collect the sample from inside the ... Using a cotton swab to take a sample of drainage from the outer ear is not painful. However, ear pain may ...

  8. Ear infection - chronic

    MedlinePlus

    Middle ear infection - chronic; Otitis media - chronic; Chronic otitis media; Chronic ear infection ... Chole RA. Chronic otitis media, mastoiditis, and petrositis. In: Flint PW, Haughey BH, Lund LJ, et al, eds. Cummings Otolaryngology: Head & Neck Surgery . 6th ed. ...

  9. Ear infection - acute

    MedlinePlus

    Otitis media - acute; Infection - inner ear; Middle ear infection - acute ... Casselbrandt ML, Mandel EM. Acute otitis media and otitis media with effusion. In: Flint PW, Haughey BH, Lund V, et al, eds. Cummings Otolaryngology: Head & Neck Surgery . 6th ed. ...

  10. Chiari Malformation: Symptoms

    MedlinePlus

    ... may cause tinnitus (ringing in the ears), depth perception, running into walls and tripping. © 2012 C&S Patient ... Of or pertaining to the mental processes of perception, memory, judgment, and reasoning What We Know: Many ...

  11. Cerebral arteriovenous malformation

    MedlinePlus

    ... an AVM that is bleeding are: Confusion Ear noise/buzzing (also called pulsatile tinnitus) Headache in one or more parts of the head, may seem like a migraine Problems walking Seizures Symptoms due to ...

  12. Pulmonary vascular malformations.

    PubMed

    Liechty, Kenneth W; Flake, Alan W

    2008-02-01

    Pulmonary vascular malformations have historically been diagnosed in a wide range of age groups, but the extensive use of prenatal imaging studies has resulted in the majority of lesions being diagnosed in utero. Among this group of lesions, bronchopulmonary sequestrations (BPS), hybrid lesions with both congenital cystic adenomatoid malformation (CCAM) and BPS, aberrant systemic vascular anastomoses, and pulmonary arteriovenous malformations (PAVM), are the most common. The biologic behavior of these lesions and the subsequent therapy is, in large part, determined by the age of the patient at diagnosis. In the fetus, large BPS or hybrid lesions can result in fetal hydrops and in utero fetal demise. In the perinatal period, pulmonary hypoplasia from the mass effect or air trapping within the cystic component of hybrid lesions can result in life-threatening respiratory distress. In the postnatal period, communication of the lesion with the aero-digestive system can result in recurrent pneumonia. Alternatively, increased pulmonary blood flow from the systemic arterial supply can result in hemorrhage, hemoptysis, or high output cardiac failure. In addition, there have been several reports of malignant degeneration. Finally, the broad spectrum encompassed by these lesions makes classification and subsequent communication of the lesions confusing and difficult. This paper will review the components of these lesions, their associated anomalies, the diagnosis and natural history, and finally, current concepts in the management of pulmonary vascular malformations. PMID:18158137

  13. Middle Ear Infections and Ear Tube Surgery (For Parents)

    MedlinePlus

    ... Zika & Pregnancy Middle Ear Infections and Ear Tube Surgery KidsHealth > For Parents > Middle Ear Infections and Ear ... medio y colocación de tubos de ventilación Why Surgery? Many kids get middle ear infections (known as ...

  14. Pathology of the Ear

    PubMed Central

    Orengo, Ida; Robbins, Kerri; Marsch, Amanda

    2011-01-01

    The external ear is exposed to weathering and trauma; it also has sparse vascularity, making it prone to infection and disease. The external location of the cutaneous ear makes it easily visible for diagnosis and accessible for treatment. In this article, the authors focus on diseases of the ear that are most commonly encountered and may be subject to surgical and medical evaluation and/or treatment. Epidemiology, pathogenesis, clinical course, and treatment for each disease entity are discussed. PMID:23115534

  15. Etiologies of uterine malformations.

    PubMed

    Jacquinet, Adeline; Millar, Debra; Lehman, Anna

    2016-08-01

    Ranging from aplastic uterus (including Mayer-Rokitansky-Kuster-Hauser syndrome) to incomplete septate uterus, uterine malformations as a group are relatively frequent in the general population. Specific causes remain largely unknown. Although most occurrences ostensibly seem sporadic, familial recurrences have been observed, which strongly implicate genetic factors. Through the study of animal models, human syndromes, and structural chromosomal variation, several candidate genes have been proposed and subsequently tested with targeted methods in series of individuals with isolated, non-isolated, or syndromic uterine malformations. To date, a few genes have garnered strong evidence of causality, mainly in syndromic presentations (HNF1B, WNT4, WNT7A, HOXA13). Sequencing of candidate genes in series of individuals with isolated uterine abnormalities has been able to suggest an association for several genes, but confirmation of a strong causative effect is still lacking for the majority of them. We review the current state of knowledge about the developmental origins of uterine malformations, with a focus on the genetic variants that have been implicated or associated with these conditions in humans, and we discuss potential reasons for the high rate of negative results. The evidence for various environmental and epigenetic factors is also reviewed. © 2016 Wiley Periodicals, Inc. PMID:27273803

  16. Ear - blocked at high altitudes

    MedlinePlus

    ... ears; Flying and blocked ears; Eustachian tube dysfunction - high altitude ... the middle ear and the back of the nose and upper throat. ... down from high altitudes. Chewing gum the entire time you are ...

  17. Ear canal cholesteatoma.

    PubMed

    Holt, J J

    1992-06-01

    Although cholesteatomas are more commonly found in the middle ear and the mastoid, the disease can occur in the external ear canal. All cases of ear canal cholesteatoma treated by the author were reviewed. There were nine ears in seven patients, who had an average age of 62 years. The lesions ranged in size from a few millimeters to extensive mastoid destruction. Smaller lesions can be managed by frequent cleaning as an office procedure. Larger lesions require surgery, either canaloplasty or mastoidectomy. The otolaryngologist should suspect this disease in the elderly. Microscopic examination of the ear with meticulous cleaning of all wax, especially in elderly patients, is most useful in detecting early disease. Frequent applications of mineral oil to the canal should be used in the management of the disease and to prevent recurrence. PMID:1376388

  18. Treatment of congenital malformations.

    PubMed

    Brucker, Sara Yvonne; Rall, Katharina; Campo, Rudi; Oppelt, Peter; Isaacson, Keith

    2011-03-01

    The prevalence of müllerian malformations is 1 in 200, or 0.5%. A third of the anomalies are septate, a third bicornuate uteri, 10% arcuate uterus, 10% didelphis and unicornuate uterus, and < 5% uterine and vaginal aplasia. Correct diagnosis of the malformation is most important but often very difficult. Correct treatment can only be performed if the malformation is clear. Longitudinal vaginal septums have to be removed due to potential obstetric problems. Transverse vaginal septums can cause hematocolpos and pain and have to be incised crosswise and excised so as not to shorten the vagina at the same time. Congenital vaginal agenesis occurs in Mayer-Rokitansky-Kuster-Hauser syndrome patients and in androgen insensitivity syndrome. The first choice for surgical treatment should be the new laparoscopic-assisted creation of a neovagina. Septate uterus has to be distinguished from a bicornuate uterus. Even if it is not proven to be a cause for infertility, the chance of miscarriage can be diminished by performing hysteroscopic metroplasty. Repair of a uterine septum in infertility patients often improves pregnancy rates. In contrast, surgical repair of a bicornuate uterus requires an abdominal metroplasty. This should only be performed if the patient has recurrent fetal loss due to the uterine structural defect. In a unicornuate uterus it is most important to determine if there is a second uterine horn that can cause cyclic pain if it has functioning endometrium. The only surgical option in these cases is to remove the rudimentary uterus with endometrium and hematometra, respectively. PMID:21437824

  19. Arteriovenous Malformation Management

    SciTech Connect

    Yakes, Wayne F.; Rossi, Plinio; Odink, Henk

    1996-11-15

    Arteriovenous malformations (AVM) are rare vascular lesions that can present with a myriad of clinical presentations. In our institutions, initial workup consists of a clinical exam, color Doppler imaging, and magnetic resonance imaging. After the initial noninvasive workup, arteriography, at times closed system venography, and ethanol endovascular repair of the AVM is performed under general anesthesia. Depending on the size of the lesion, additional Swan-Ganz line and arterial line monitoring are performed. Patients are usually observed overnight and uneventfully discharged the following day if no complication occurs. Patients are followed at periodic intervals despite cure of their lesion. Long-term follow-up is essential in AVM management.

  20. Chiari-like Malformation.

    PubMed

    Loughin, Catherine A

    2016-03-01

    Chiari-like malformation is a condition of the craniocervical junction in which there is a mismatch of the structures of the caudal cranial fossa causing the cerebellum to herniate into the foramen magnum. This herniation can lead to fluid buildup in the spinal cord, also known as syringomyelia. Pain is the most common clinical sign followed by scratching. Other neurologic signs noted are facial nerve deficits, seizures, vestibular syndrome, ataxia, menace deficit, proprioceptive deficits, head tremor, temporal muscle atrophy, and multifocal central nervous system signs. MRI is the diagnostic of choice, but computed tomography can also be used. PMID:26631589

  1. Vitamin D receptor deficiency impairs inner ear development in zebrafish.

    PubMed

    Kwon, Hye-Joo

    2016-09-16

    The biological actions of vitamin D are largely mediated through binding to the vitamin D receptor (VDR), a member of the nuclear hormone receptor family, which regulates gene expression in a wide variety of tissues and cells. Mutations in VDR gene have been implicated in ear disorders (hearing loss and balance disorder) but the mechanisms are not well established. In this study, to investigate the role of VDR in inner ear development, morpholino-mediated gene knockdown approaches were used in zebrafish model system. Two paralogs for VDR, vdra and vdrb, have been identified in zebrafish. Knockdown of vdra had no effect on ear development, whereas knockdown of vdrb displayed morphological ear defects including smaller otic vesicles with malformed semicircular canals and abnormal otoliths. Loss-of-vdrb resulted in down-regulation of pre-otic markers, pax8 and pax2a, indicating impairment of otic induction. Furthermore, zebrafish embryos lacking vdrb produced fewer sensory hair cells in the ears and showed disruption of balance and motor coordination. These data reveal that VDR signaling plays an important role in ear development. PMID:27526995

  2. Ear problems in swimmers.

    PubMed

    Wang, Mao-Che; Liu, Chia-Yu; Shiao, An-Suey; Wang, Tyrone

    2005-08-01

    Acute diffuse otitis externa (swimmer's ear), otomycosis, exostoses, traumatic eardrum perforation, middle ear infection, and barotraumas of the inner ear are common problems in swimmers and people engaged in aqua activities. The most common ear problem in swimmers is acute diffuse otitis externa, with Pseudomonas aeruginosa being the most common pathogen. The symptoms are itching, otalgia, otorrhea, and conductive hearing loss. The treatment includes frequent cleansing of the ear canal, pain control, oral or topical medications, acidification of the ear canal, and control of predisposing factors. Swimming in polluted waters and ear-canal cleaning with cotton-tip applicators should be avoided. Exostoses are usually seen in people who swim in cold water and present with symptoms of accumulated debris, otorrhea and conductive hearing loss. The treatment for exostoses is transmeatal surgical removal of the tumors. Traumatic eardrum perforations may occur during water skiing or scuba diving and present with symptoms of hearing loss, otalgia, otorrhea, tinnitus and vertigo. Tympanoplasty might be needed if the perforations do not heal spontaneously. Patients with chronic otitis media with active drainage should avoid swimming, while patients who have undergone mastoidectomy and who have no cavity problems may swim. For children with ventilation tubes, surface swimming is safe in a clean, chlorinated swimming pool. Sudden sensorineural hearing loss and some degree of vertigo may occur after diving because of rupture of the round or oval window membrane. PMID:16138712

  3. Ear Injuries (For Parents)

    MedlinePlus

    ... the eardrum, ear canal, ossicles, cochlea, or the vestibular nerve. Here's a look at the most common ... may cause permanent hearing loss or balance problems. Vestibular therapy may help kids with balance problems. And ...

  4. Middle Ear Infections

    MedlinePlus

    ... Health Issues Conditions Abdominal ADHD Allergies & Asthma Autism Cancer Chest & Lungs Chronic Conditions Cleft & Craniofacial Developmental Disabilities Ear Nose & Throat Emotional Problems Eyes Fever From Insects or Animals Genitals and Urinary Tract Glands & Growth ...

  5. Ear infection - acute

    MedlinePlus

    ... Risk factors for acute ear infections include: Attending day care (especially centers with more than 6 children) Changes ... hands and toys often. If possible, choose a day care that has 6 or fewer children. This can ...

  6. Brain arteriovenous malformations.

    PubMed

    Ferrara, Adi R

    2011-01-01

    An arteriovenous malformation (AVM) is a particular abnormality of blood vessels. Brain AVMs are congenital, but symptoms usually do not appear until the second decade of life - if at all. The most common presenting symptom is a brain hemorrhage, but other possible symptoms include neurological deficits, seizures and headaches. Until recently, the gold standard for diagnosing AVM was conventional angiography. However, computed tomography and magnetic resonance angiography are now the first-line diagnostic tools for AVMs. This article reviews the presenting symptoms, diagnostic procedures and treatment options for brain AVMs, including embolization, micro-surgery and radiosurgery. This article is a Directed Reading. Your access to Directed Reading quizzes for continuing education credit is determined by your CE preference. For access to other quizzes, go to www.asrt.org/store. PMID:21771938

  7. Systemic to pulmonary vascular malformation.

    PubMed

    Pouwels, H M; Janevski, B K; Penn, O C; Sie, H T; ten Velde, G P

    1992-11-01

    A case is reported of life-threatening haemoptysis as a result of an anomalous communication between a bronchial artery and pulmonary vein, demonstrated by angiography. The patient recovered following bilobectomy of the right lower and middle lobes. When a systemic artery is involved in an arteriovenous malformation of the lung, haemodynamics are different compared with those present in malformations fed by the pulmonary artery. This implicates other clinical features, options for surgical intervention and prognosis. In reviewing the literature, a relationship with Rendu-Osler-Weber disease is absent in these specific malformations. PMID:1486979

  8. Arteriovenous malformations of the bladder.

    PubMed

    Grunberger, I; DeAsis, A; Torno, R; Godec, C J

    1989-01-01

    We report a rare case of a localized arteriovenous malformation of the bladder mimicking a bladder tumor and presenting with gross hematuria. The mass was successfully resected transurethrally. PMID:2908934

  9. Embolization of uterine arteriovenous malformation

    PubMed Central

    Chen, Yan; Wang, Guoyun; Xie, Fubo; Wang, Bo; Tao, Guowei; Kong, Beihua

    2013-01-01

    Background: Uterine arteriovenous malformation is a rare but potential life-threatening source of bleeding. A high index of suspicion and accurate diagnosis of the condition in a timely manor are essential because instrumentation that is often used for other sources of uterine bleeding can be lead to massive hemorrhage. Case: We describe here a case of uterine arteriovenous malformation. A 32-year-old woman presented abnormal vaginal bleeding following the induced abortion. A diagnosis of uterine arteriovenous malformation made on the basis of Doppler ultrasonraphy was confirmed through pelvic angiography. The embolization of bilateral uterine arteries was performed successfully. Conclusion: Uterine arteriovenous malformation should be suspected in patient with abnormal vaginal bleeding, especially who had the past medical history incluing cesarean section, induced abortion, or Dillation and Curethage and so on. Although angiography remains the gold standard, Doppler ultrasonography is also a good noninvasive technique. The transcatheter uterine artery embolization offers a safe and effective treatment PMID:24639742

  10. CHARGE association in Sweden: malformations and functional deficits.

    PubMed

    Strömland, Kerstin; Sjögreen, Lotta; Johansson, Maria; Ekman Joelsson, Britt-Marie; Miller, Marilyn; Danielsson, Susanna; Billstedt, Eva; Gillberg, Christopher; Jacobsson, Catharina; Norinder, Jan Andersson; Granström, Gösta

    2005-03-15

    CHARGE association (CA) consists of a non-random association of ocular coloboma (C), heart anomaly (H), atresia of choanae (A), retarded growth and/or development (R), genital hypoplasia (G), and ear anomalies and/or hearing impairment (E). A prospective multidisciplinary study of 31 Swedish patients with CA was undertaken in order to describe the associated malformations and functional deficits, find possible etiological factors and identify critical time periods for the maldevelopment. The clinical files were analyzed, the mothers answered a questionnaire on history of prenatal events, and a clinical evaluation of systemic findings, vision, hearing, balance, speech, oral and swallowing function, and neuro-psychiatric function, especially autism, was performed. The most frequent physical abnormalities affected ears (90%), eyes (90%), brain (61%), heart (52%), retarded growth (48%), genitals (38%), choanae (35%), and facial nerve (32%). Sixty-one percent of the patients were visually impaired or blind, and 74% had hearing loss or deafness. Problems in balance, speech, and eating were common. Forty percent of the patients had autism/atypical autism, and 82% had developmental delay. Three children were born following assisted fertilization and two mothers had diabetes. The mothers reported infections, bleedings, and drug use during pregnancy. Analysis of possible critical time periods suggested that most malformations were produced early in pregnancy, mainly during post conceptual weeks 4, 5, and 6. A multidisciplinary approach is essential in the assessment and management of CA. PMID:15633180

  11. Malformations of cortical development

    PubMed Central

    Pang, Trudy; Atefy, Ramin; Sheen, Volney

    2012-01-01

    Background Malformations of cortical development (MCD) are increasingly recognized as an important cause of epilepsy and developmental delay. MCD encompass a wide spectrum of disorders with various underlying genetic etiologies and clinical manifestations. High resolution imaging has dramatically improved our recognition of MCD. Review Summary This review will provide a brief overview of the stages of normal cortical development, including neuronal proliferation, neuroblast migration, and neuronal organization. Disruptions at various stages lead to characteristic MCD. Disorders of neurogenesis give rise to microcephaly (small brain) or macrocephaly (large brain). Disorders of early neuroblast migration give rise to periventricular heterotopia (neurons located along the ventricles), whereas abnormalities later in migration lead to lissencephaly (smooth brain) or subcortical band heterotopia (smooth brain with a band of heterotopic neurons under the cortex). Abnormal neuronal migration arrest give rise to over-migration of neurons in cobblestone lissencephaly. Lastly, disorders of neuronal organization cause polymicrogyria (abnormally small gyri and sulci). This review will also discuss the known genetic mutations and potential mechanisms that contribute to these syndromes. Conclusion Identification of various gene mutations has not only given us greater insight into some of the pathophysiologic basis of MCD, but also an understanding of the processes involved in normal cortical development. PMID:18469675

  12. [Inner Ear Hearing Loss].

    PubMed

    Hesse, G

    2016-06-01

    Hearing loss is one of the most dominant handicaps in modern societies, which additionally very often is not realized or not admitted. About one quarter of the general population suffers from inner ear hearing loss and is therefore restricted in communicational skills. Demographic factors like increasing age play an important role as well as environmental influences and an increasing sound and noise exposure especially in leisure activities. Thus borders between a "classical" presbyacusis - if it ever existed - and envirionmentally induced hearing loss disappear. Today restrictions in hearing ability develop earlier in age but at the same time they are detected and diagnosed earlier. This paper can eventually enlighten the wide field of inner ear hearing loss only fragmentarily; therefore mainly new research, findings and developments are reviewed. The first part discusses new aspects of diagnostics of inner ear hearing loss and different etiologies. PMID:27259171

  13. Ear - blocked at high altitudes

    MedlinePlus

    High altitudes and blocked ears; Flying and blocked ears; Eustachian tube dysfunction - high altitude ... you are going up or coming down from high altitudes. Chewing gum the entire time you are changing ...

  14. Hearing, Ear Infections, and Deafness

    MedlinePlus

    ... Involved You are here Home » Health Info Hearing, Ear Infections, and Deafness Diseases and Conditions Age-Related ... Do You Need a Hearing Test? Interactive Quiz Ear Infections in Children Enlarged Vestibular Aqueducts and Childhood ...

  15. Pulmonary arteriovenous malformations.

    PubMed

    Shovlin, Claire L

    2014-12-01

    Within the past decade, pulmonary arteriovenous malformations (PAVMs) have evolved from rare curiosities to not uncommon clinical states, with the latest estimates suggesting a prevalence of ~1 in 2,600. PAVMs provide anatomic right-to-left shunts, allowing systemic venous blood to bypass gas exchange and pulmonary capillary bed processing. Hypoxemia and enhanced ventilatory demands result, although both are usually asymptomatic. Paradoxical emboli lead to strokes and cerebral abscesses, and these commonly occur in individuals with previously undiagnosed PAVMs. PAVM hemorrhage is rare but is the main cause of maternal death in pregnancy. PAVM occlusion by embolization is the standard of care to reduce these risks. However, recent data demonstrate that currently recommended management protocols can result in levels of radiation exposure that would be classified as harmful. Recent publications also provide a better appreciation of the hematologic and cardiovascular demands required to maintain arterial oxygen content and oxygen consumption in hypoxemic patients, identify patient subgroups at higher risk of complications, and emphasize the proportion of radiologically visible PAVMs too small to treat by embolization. This review, therefore, outlines medical states that exacerbate the consequences of PAVMs. Chief among these is iron deficiency, which is commonly present due to concurrent hereditary hemorrhagic telangiectasia: iron deficiency impairs hypoxemia compensations by restricting erythropoiesis and increases the risk of ischemic strokes. Management of periodontal disease, dental interventions, pulmonary hypertension, and pregnancy also requires specific consideration in the setting of PAVMs. The review concludes by discussing to what extent previously recommended protocols may benefit from modification or revision. PMID:25420112

  16. Pulmonary Arteriovenous Malformations

    PubMed Central

    2014-01-01

    Within the past decade, pulmonary arteriovenous malformations (PAVMs) have evolved from rare curiosities to not uncommon clinical states, with the latest estimates suggesting a prevalence of ∼1 in 2,600. PAVMs provide anatomic right-to-left shunts, allowing systemic venous blood to bypass gas exchange and pulmonary capillary bed processing. Hypoxemia and enhanced ventilatory demands result, although both are usually asymptomatic. Paradoxical emboli lead to strokes and cerebral abscesses, and these commonly occur in individuals with previously undiagnosed PAVMs. PAVM hemorrhage is rare but is the main cause of maternal death in pregnancy. PAVM occlusion by embolization is the standard of care to reduce these risks. However, recent data demonstrate that currently recommended management protocols can result in levels of radiation exposure that would be classified as harmful. Recent publications also provide a better appreciation of the hematologic and cardiovascular demands required to maintain arterial oxygen content and oxygen consumption in hypoxemic patients, identify patient subgroups at higher risk of complications, and emphasize the proportion of radiologically visible PAVMs too small to treat by embolization. This review, therefore, outlines medical states that exacerbate the consequences of PAVMs. Chief among these is iron deficiency, which is commonly present due to concurrent hereditary hemorrhagic telangiectasia: iron deficiency impairs hypoxemia compensations by restricting erythropoiesis and increases the risk of ischemic strokes. Management of periodontal disease, dental interventions, pulmonary hypertension, and pregnancy also requires specific consideration in the setting of PAVMs. The review concludes by discussing to what extent previously recommended protocols may benefit from modification or revision. PMID:25420112

  17. Low-set ears and pinna abnormalities

    MedlinePlus

    Low-set ears; Microtia; "Lop" ear; Pinna abnormalities; Genetic defect-pinna; Congenital defect-pinna ... The outer ear or "pinna" forms when the baby is growing in the mother's womb. The growth of this ear part ...

  18. Ear, Nose & Throat Issues & Down Syndrome

    MedlinePlus

    ... Throat Issues & Down Syndrome Ear, Nose & Throat Issues & Down Syndrome Ear, nose, and throat (ENT) problems are common ... What ENT Problems Are Common in Children With Down Syndrome? External Ear Canal Stenosis Stenotic ear canals (narrow ...

  19. From Ear to Brain

    ERIC Educational Resources Information Center

    Kimura, Doreen

    2011-01-01

    In this paper Doreen Kimura gives a personal history of the "right-ear effect" in dichotic listening. The focus is on the early ground-breaking papers, describing how she did the first dichotic listening studies relating the effects to brain asymmetry. The paper also gives a description of the visual half-field technique for lateralized stimulus…

  20. Reconstructive Middle Ear Surgery

    PubMed Central

    Ruby, R.R.F.; Ballagh, R.H.

    1992-01-01

    Conductive hearing loss is a common cause of deafness and disability, particularly in children and young adults. This article presents a brief overview of the various methods currently available for reconstructing the tympanic membrane and middle ear ossicular chain, including some comments as to their indications and limitations. Schematic diagrams showing these techniques illustrate the various types of repair described. PMID:21221356

  1. External Otitis (Swimmer's Ear)

    MedlinePlus

    ... drops, keeping water out of the ear, and pain relievers are the most common forms of treatment. External otitis may involve the entire canal, as ... does not allow fungus to grow as well. Treatment of boils depends on ... relievers, such as oxycodone with acetaminophen , can be given ...

  2. How to Use Ear Drops

    MedlinePlus

    How to Use Ear Drops(Having someone else give you the ear drops may make this procedure easier.) Wash your hands thoroughly with soap and ... facecloth and then dry your ear. Warm the drops to near body temperature by holding the container ...

  3. Why study human limb malformations?

    PubMed Central

    Wilkie, Andrew OM

    2003-01-01

    Congenital limb malformations occur in 1 in 500 to 1 in 1000 human live births and include both gross reduction defects and more subtle alterations in the number, length and anatomy of the digits. The major causes of limb malformations are abnormal genetic programming and intra-uterine disruption to development. The identification of causative gene mutations is important for genetic counselling and also provides insights into the mechanisms controlling limb development. This article illustrates some of the lessons learnt from the study of human limb malformation, organized into seven categories. These are: (1) identification of novel genes, (2) allelic mutation series, (3) pleiotropy, (4) qualitative or (5) quantitative differences between mouse and human development, (6) physical and teratogenic disruption, and (7) unusual biological phenomena. PMID:12587917

  4. Evolutionary origin of cardiac malformations.

    PubMed

    Taussig, H B

    1988-10-01

    The author has proposed in previous publications that isolated cardiac malformations have an evolutionary origin. This is partly supported by the fact that isolated cardiac malformations found in humans occur also in other placental mammals as well as in birds. External gross examination of the heart in just over 5,000 birds was carried out during a 3 year period. Anomalies included one instance of duplicate hearts, two specimens in which no heart could be identified and in a fourth, a yellow-rumped warbler, the heart lay in the neck outside of the thoracic cavity. Published reports of similar occurrences of an ectopically placed heart concern birds, cattle and humans. The fact that various species of both placental mammals and birds show evidence of heritability for heart defects, and that these species cannot interbreed, combined with the fact that birds and mammals have many similar malformations, points to either a common external causative factor or a common origin. Genes that code the malformed heart must be transmitted with that part of the genetic makeup common to all birds and mammals. Malformations caused by teratogens produce widespread organ injury to a potentially normal embryo whereas the evolutionary malformation is an organ-specific anomaly in an otherwise normal mammal or bird and occurs in widely separated species. The implications of this theory are important for parents of children with an isolated congenital heart defect who may have ingested one or another drug or chemical or have been exposed to toxins or infectious agents before or after conception of the affected offspring. PMID:3047192

  5. Imaging of congenital pulmonary malformations.

    PubMed

    Praticò, Francesco Emanuele; Corrado, Michele; Della Casa, Giovanni; Parziale, Raffaele; Russo, Giuseppe; Gazzani, Silvia Eleonora; Rossi, Enrica; Borgia, Daniele; Mostardi, Maurizio; Bacchini, Emanuele; Cella, Simone; De Filippo, Massimo

    2016-01-01

    Congenital pulmonary malformations represent a broad spectrum of anomalies that may result in varied clinical and pathologic pictures, ranging from recurrent pulmonary infections and acute respiratory distress syndrome, which require timely drug therapy, up to large space-occupying lesions needing surgical treatment. This classification includes three distinct anatomical and pathological entities, represented by Congenital Cystic Adenomatoid Malformation, Bronchopulmonary Sequestration and Congenital Lobar Emphysema. The final result in terms of embryological and fetal development of these alterations is a Congenital Lung Hypoplasia. Since even Bronchial Atresia, Pulmonary Bronchogenic Cysts and Congenital Diaphragmatic Hernias are due to Pulmonary Hypoplasia, these diseases will be discussed in this review (1, 2). PMID:27467867

  6. The contralateral ear in cholesteatoma.

    PubMed

    da Costa, Sady Selaimen; Teixeira, Adriane Ribeiro; Rosito, Letícia Petersen Schmidt

    2016-07-01

    Middle ear cholesteatoma has been extensively studied. Theories of cholesteatoma pathogenesis involving previous tympanic membrane retraction are the most widely accepted, but the contralateral ear in patients with cholesteatoma remains unstudied. This study aimed to investigate the contralateral ear in patients with cholesteatoma, and to determine whether the characteristics of it differ according to patient age and cholesteatoma growth patterns. This study was cross sectional. We evaluated 356 patients with middle ear cholesteatoma in at least one ear, and no history of surgery, between August 2000 and March 2013. Otoendoscopy was conducted on both the affected and the contralateral ear. They were classified as normal, tympanic membrane perforation, moderate to severe tympanic membrane retraction and cholesteatoma. The mean age of the patients was 32.77 years, and 53.1 % of the cohort were female. Only 34.8 % of the contralateral ears were normal. The most common abnormality was moderate to severe tympanic membrane retraction (41.6 %). Cholesteatoma was identified in 16 %. Children exhibited a greater frequency of tympanic membrane retractions, whereas adults exhibited a greater frequency of cholesteatoma. All of the contralateral ears in the anterior epitympanic group were normal, but otherwise there were no differences in the contralateral ear when we compared the cholesteatoma growth patterns. We conclude that patients diagnosed with acquired cholesteatoma of one ear are significantly more likely to exhibit abnormalities of the contralateral ear. PMID:26223352

  7. Genetics Home Reference: Dandy-Walker malformation

    MedlinePlus

    ... All Close All Description Dandy-Walker malformation affects brain development, primarily development of the cerebellum , which is the ... Walker malformation , signs and symptoms caused by abnormal brain development are present at birth or develop within the ...

  8. Arteriovenous malformation of nose-revision surgery.

    PubMed

    Srinivas, C V; Kailash, N; Kailas, Gayattre; Divya Jyothi, N

    2012-12-01

    Areteriovenous malformations are rare in the head and neck region and generally arise from intracranial vessels. We present one rare case with spontaneous arteriovenous malformations related to the nose. PMID:24294582

  9. Intracranial vascular malformations: MR and CT imaging

    SciTech Connect

    Kucharczyk, W.; Lemme-Pleghos, L.; Uske, A.; Brant-Zawadzki, M.; Dooms, G.; Norman, D.

    1985-08-01

    Twenty-four patients with 29 cerebrovascular malformations were evaluated with a combination of computed tomography (CT), angiography, and magnetic resonance (MR) imaging. Characteristics of the malformations on MR images were reviewed retrospectively, and a comparative evaluation of MR and CT images was made. Of 14 angiographically evident malformations, 13 intra-axial lesions were detected on both CT and MR images, and one dural malformation gave false-negative results on both modalities. The appearance of parenchymal lesions on MR images closely mirrored characteristic CT findings. Angiographically evident malformations have a highly characteristic appearance on MR images. MR may be more sensitive than CT in the detection of small hemorrhagic foci associated with cryptic arteriovenous malformations and may add specificity in the diagnosis of occult malformations in some cases, but MR is less sensitive than CT for the detection of small calcified malformations.

  10. Overgrowth syndromes with vascular malformations.

    PubMed

    Hagen, Solveig L; Hook, Kristen P

    2016-03-01

    This review provides a clinically-oriented summary of the most commonly encountered overgrowth syndromes associated with vascular malformations. This manuscript will outline morphologic features, clinical evaluation and management of this complex group of patients. Recent genetic advances have aided in classification and help to explain overlapping clinical features in many cases. PMID:27607325

  11. Ear recognition: a complete system

    NASA Astrophysics Data System (ADS)

    Abaza, Ayman; Harrison, Mary Ann F.

    2013-05-01

    Ear Recognition has recently received significant attention in the literature. Even though current ear recognition systems have reached a certain level of maturity, their success is still limited. This paper presents an efficient complete ear-based biometric system that can process five frames/sec; Hence it can be used for surveillance applications. The ear detection is achieved using Haar features arranged in a cascaded Adaboost classifier. The feature extraction is based on dividing the ear image into several blocks from which Local Binary Pattern feature distributions are extracted. These feature distributions are then fused at the feature level to represent the original ear texture in the classification stage. The contribution of this paper is three fold: (i) Applying a new technique for ear feature extraction, and studying various optimization parameters for that technique; (ii) Presenting a practical ear recognition system and a detailed analysis about error propagation in that system; (iii) Studying the occlusion effect of several ear parts. Detailed experiments show that the proposed ear recognition system achieved better performance (94:34%) compared to other shape-based systems as Scale-invariant feature transform (67:92%). The proposed approach can also handle efficiently hair occlusion. Experimental results show that the proposed system can achieve about (78%) rank-1 identification, even in presence of 60% occlusion.

  12. Galenic arteriovenous malformation with precocious puberty.

    PubMed

    Ventureyra, E C; Badejo, A

    1984-01-01

    Pineal lesions may appear with precocious puberty. In this report, a patient with precocious puberty and macrogenitosomia caused by an arteriovenous malformation in the pineal region is presented. This vascular malformation was not visualized during investigations 3 years before the present series. It appears that the vascular malformation increased considerably in size within a 3-year period. This case suggests that some arteriovenous malformations may take a malignant course, increasing rapidly in size and behaving like tumors by causing destruction and compression of surrounding structures. This case seems to be unique because, to the best of our knowledge, an arteriovenous malformation associated with precocious puberty has never been described previously. PMID:6689808

  13. Intraneural Venous Malformations of the Median Nerve

    PubMed Central

    González Rodríguez, Alba; Midón Míguez, José

    2016-01-01

    Venous malformations arising from the peripheral nerve are a rare type of vascular malformation. We present the first case of an intraneural venous malformation of the median nerve to be reported in a child and review the previous two cases of median nerve compression due to a venous malformation that have been reported. These cases presented with painless masses in the volar aspect of the wrist or with symptoms suggestive of carpal tunnel syndrome. Clinical suspicion should lead to the use of Doppler ultrasonography as the first-line diagnostic tool. Magnetic resonance imaging and histopathology can confirm the diagnosis, as phleboliths are pathognomonic of venous malformations. Surgical treatment appears to be the only modality capable of successfully controlling the growth of an intraneural malformation. Sclerotherapy and radiotherapy have never been used to treat this type of malformation. PMID:27462571

  14. AUTISM WITH OPHTHALMOLOGIC MALFORMATIONS: THE PLOT THICKENS

    PubMed Central

    Miller, Marilyn T; Strömland, Kerstin; Ventura, Liana; Johansson, Maria; Bandim, Jose M; Gillberg, Christopher

    2004-01-01

    ABSTRACT Purpose To review the association of autism spectrum disorder (ASD) in individuals manifesting thalidomide embryopathy and Möbius sequence and compare them with three new studies in which ASD was also associated with ocular and systemic malformations: (1) a Swedish study of individuals with CHARGE association (Coloboma, Heart, choanal Atresia, developmental or growth Retardation, Genital anomaly, and Ear involvement); (2) a Swedish study of Goldenhar syndrome; and (3) Brazilian Möbius syndrome (sequence) study. Methods In the Swedish CHARGE study, 31 patients met the inclusion criteria (3+ or 4 of the common characteristics of the CHARGE syndrome). The same team of investigators also evaluated 20 Swedish patients with Goldenhar syndrome. In the Brazilian Möbius study, 28 children with a diagnosis of Möbius sequence were studied; some children had a history of exposure during their mother’s pregnancy to the abortifacient drug misoprostol in an unsuccessful abortion attempt Results In the CHARGE study, five patients had the more severe autism disorder and five had autistic-like condition. In the Goldenhar study, two had autism disorder and one had autistic-like condition. In the Brazilian Möbius study, the systemic findings of the misoprostol-exposed and misoprostol-unexposed patients were almost undistinguishable, and ASD was present in both groups (autism disorder in five and autistic-like condition in three). Conclusion Autism spectrum disorder has been reported in two conditions with known early pregnancy exposure to the teratogenic agents thalidomide and misoprostol. In the Brazilian Möbius study, autism also occurred in both the misoprostol-exposed and misoprostol-unexposed groups. Autism also was present in patients with both CHARGE association and Goldenhar syndrome. PMID:15747750

  15. Congenital malformations in diabetic offspring.

    PubMed

    Temesio, P; Belitzky, R; Gallego, L; Martell, M; Pose, S V

    1977-01-01

    A retrospective study of 215 deliveries in diabetic mothers at Hospital de Clínicas (Montevideo, Uruguay) has been performed. Presence of congenital malformations (CM) was considered in relation to age of the mothers, class of maternal diabetes, maternal angiopathy, treatment and metabolic control. The prevalence of CM in the series was 9.8%. None of the factors analyzed seems to be statistically linked to the prevalence of CM. PMID:613685

  16. [Maternal imagination and congenital malformations].

    PubMed

    Van Heiningen, Teunis Willem

    2011-01-01

    Since antiquity philosophers and scientists tried to explain the cause of congenital malformations. In early modern medicine maternal imagination was largely accepted as their true cause, This concept was rejected by Blondel, a London physician. Around 1750 Wolff introduced the Hemmungsbildung as the cause of congenital malformations, a concept adopted in 1781 by Blumenbach. Later on Soemmerring (1784), Crichton (1785) and Meckel the younger adopted Blumenbach's concept. In 1824 Suringar further developed it. More and more the excessive development of fetal blood vessels or nerves was rejected as a possible cause, although from time to time these ideas were adopted again. In the early 1800s Etienne Geoffroy Saint-Hilaire (1811) and Vrolik (1817) developed a classification of monstra. These attempts urged Isidore Geoffroy Saint-Hilaire (Etienne's son) and Vrolik the younger (Gerard's son) to develop it further. Nevertheless, around 1840 Vrolik had to admit that although we are well acqainted with the various malformations, we are still ignorant of the primary cause of these phenomena. Meanwhile the dispute between the adherents of the theory of preformation and those who had adopted the concept of epigenesis exercised many minds. In the second half of the eighteenth century the latter theory became more and more adopted and this fact cleared the way for the ideas introduced by Wolff and Blumenbach, because it was consistent with the idea of a gradual development of fetal structures. PMID:22073754

  17. Wax blockage in the ear (image)

    MedlinePlus

    The ear canal is lined with hair follicles and glands that produce a waxy oil called cerumen. Sometimes the ... wax than can be easily excreted out the ear. This extra wax may harden within the ear ...

  18. Otoscopic exam of the ear (image)

    MedlinePlus

    ... intrument which is used to look into the ear canal. The ear speculum (a cone-shaped viewing piece of the otoscope) is slowly inserted into the ear canal while looking into the otoscope. The speculum ...

  19. Middle ear infection (otitis media) (image)

    MedlinePlus

    ... is an inflammation and/or infection of the middle ear. Acute otitis media (acute ear infection) occurs ... or viral infection of the fluid of the middle ear, which causes production of fluid or pus. ...

  20. Cryptic vascular malformations involving the brainstem

    SciTech Connect

    Yeates, A.; Enzmann, D.

    1983-01-01

    Six patients with angiographically cryptic vascular malformations involving the brainstem were examined with computed tomography (CT). The clinical and CT findings of cryptic vascular malformations of the brainstem are described and distinguished from those of brainstem glioma and multiple sclerosis. Calcification within a brainstem lesion that displays relatively little mass effect and shows little contrast enhancement, particularly when associated with a long history of waxing and waning brainstem symptoms, should suggest a vascular malformation.

  1. Chiari Malformations and Syringohydromyelia in Children.

    PubMed

    Poretti, Andrea; Boltshauser, Eugen; Huisman, Thierry A G M

    2016-04-01

    Chiari malformations are a heterogeneous group of disorders with distinct clinical anatomical features all of which involve the hindbrain. Our understanding of Chiari malformations increased tremendously over the past decades, and progress in neuroimaging was instrumental for that. Conventional and advanced neuroimaging of the brain and spine play a key role in the workup of children with suspected Chiari malformations. In addition, neuroimaging studies in Chiari malformations may guide the management, serve as a predictor of outcome, and shed light on the pathogenesis. PMID:27063663

  2. Diffuse malformations of cortical development.

    PubMed

    Bahi-Buisson, Nadia; Guerrini, Renzo

    2013-01-01

    Malformations of cortical development (MCD) represent a major cause of developmental disabilities and severe epilepsy. Advances in imaging and genetics have improved the diagnosis and classification of these conditions. Up to now, eight genes have been involved in different types of MCD. Lissencephaly-pachygyria and subcortical band heterotopia (SBH) represent a malformative spectrum resulting from mutations of either LIS1 or DCX genes. LIS1 mutations cause a more severe malformation in the posterior brain regions. DCX mutations usually cause anteriorly predominant lissencephaly in males and SBH in female patients. Additional forms are X-linked lissencephaly with corpus callosum agenesis and ambiguous genitalia associated with mutations of the ARX gene. Lissencephaly with cerebellar hypoplasia (LCH) encompass heterogeneous disorders named LCH types a to d. LCHa is related to mutation in LIS1 or DCX, LCHb with mutation of the RELN gene, and LCHd could be related to the TUBA1A gene. Polymicrogyria encompasses a wide range of clinical, etiological, and histological findings. Among several syndromes, recessive bilateral fronto-parietal polymicrogyria has been associated with mutations of the GPR56 gene. Bilateral perisylvian polymicrogyria has been associated with mutations in the SRPX2 gene in a few individuals and with linkage to chromosome Xq28 in a some other families. X-linked bilateral periventricular nodular heterotopia (PNH) consists of PNH with focal epilepsy in females and prenatal lethality in males. Filamin A (FLNA) mutations have been reported in some families and in sporadic patients. It is possible to infer the most likely causative gene by brain imaging studies and other clinical findings. PMID:23622213

  3. Cochlear Implant Outcomes and Genetic Mutations in Children with Ear and Brain Anomalies

    PubMed Central

    Busi, Micol; Rosignoli, Monica; Castiglione, Alessandro; Minazzi, Federica; Trevisi, Patrizia; Aimoni, Claudia; Calzolari, Ferdinando; Granieri, Enrico; Martini, Alessandro

    2015-01-01

    Background. Specific clinical conditions could compromise cochlear implantation outcomes and drastically reduce the chance of an acceptable development of perceptual and linguistic capabilities. These conditions should certainly include the presence of inner ear malformations or brain abnormalities. The aims of this work were to study the diagnostic value of high resolution computed tomography (HRCT) and magnetic resonance imaging (MRI) in children with sensorineural hearing loss who were candidates for cochlear implants and to analyse the anatomic abnormalities of the ear and brain in patients who underwent cochlear implantation. We also analysed the effects of ear malformations and brain anomalies on the CI outcomes, speculating on their potential role in the management of language developmental disorders. Methods. The present study is a retrospective observational review of cochlear implant outcomes among hearing-impaired children who presented ear and/or brain anomalies at neuroimaging investigations with MRI and HRCT. Furthermore, genetic results from molecular genetic investigations (GJB2/GJB6 and, additionally, in selected cases, SLC26A4 or mitochondrial-DNA mutations) on this study group were herein described. Longitudinal and cross-sectional analysis was conducted using statistical tests. Results. Between January 1, 1996 and April 1, 2012, at the ENT-Audiology Department of the University Hospital of Ferrara, 620 cochlear implantations were performed. There were 426 implanted children at the time of the present study (who were <18 years). Among these, 143 patients (64 females and 79 males) presented ear and/or brain anomalies/lesions/malformations at neuroimaging investigations with MRI and HRCT. The age of the main study group (143 implanted children) ranged from 9 months and 16 years (average = 4.4; median = 3.0). Conclusions. Good outcomes with cochlear implants are possible in patients who present with inner ear or brain abnormalities, even if central

  4. Outcomes in Endoscopic Ear Surgery.

    PubMed

    Kiringoda, Ruwan; Kozin, Elliott D; Lee, Daniel J

    2016-10-01

    Endoscopic ear surgery (EES) provides several advantages compared with traditional binocular microscopy, including a wide-field view, improved resolution with high magnification, and visual access to hidden corridors of the middle ear. Although binocular microscopic-assisted surgical techniques remain the gold standard for most otologists, EES is slowly emerging as a viable alternative for performing otologic surgery at several centers in the United States and abroad. In this review, we evaluate the current body of literature regarding EES outcomes, summarize our EES outcomes at the Massachusetts Eye and Ear Infirmary, and compare these results with data for microscopic-assisted otologic surgery. PMID:27565392

  5. Developmental venous anomaly, capillary telangiectasia, cavernous malformation, and arteriovenous malformation: spectrum of a common pathological entity?

    PubMed

    Kalani, M Yashar S; Zabramski, Joseph M; Martirosyan, Nikolay L; Spetzler, Robert F

    2016-03-01

    Vascular malformations of the central nervous system are thought to originate from abnormal developmental processes during embryogenesis. Reports have cited the dynamic nature of these lesions and their "maturation" into other types of malformations. Herein we report on three patients with vascular malformations who exhibited dynamic alterations with stepwise progression of their lesions. These cases lend support to the hypothesis that these malformations may constitute the spectrum of a single disease caused by alterations in a common developmental program and that accumulating injury (e.g., by radiation) may allow one malformation type to mature into another. This concept warrants further investigation. PMID:26743915

  6. 21 CFR 870.2710 - Ear oximeter.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... 21 Food and Drugs 8 2010-04-01 2010-04-01 false Ear oximeter. 870.2710 Section 870.2710 Food and... CARDIOVASCULAR DEVICES Cardiovascular Monitoring Devices § 870.2710 Ear oximeter. (a) Identification. An ear... ear. The amount of reflected or scattered light as indicated by this device is used to measure...

  7. 21 CFR 870.2710 - Ear oximeter.

    Code of Federal Regulations, 2014 CFR

    2014-04-01

    ... 21 Food and Drugs 8 2014-04-01 2014-04-01 false Ear oximeter. 870.2710 Section 870.2710 Food and... CARDIOVASCULAR DEVICES Cardiovascular Monitoring Devices § 870.2710 Ear oximeter. (a) Identification. An ear... ear. The amount of reflected or scattered light as indicated by this device is used to measure...

  8. 21 CFR 870.2710 - Ear oximeter.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... 21 Food and Drugs 8 2011-04-01 2011-04-01 false Ear oximeter. 870.2710 Section 870.2710 Food and... CARDIOVASCULAR DEVICES Cardiovascular Monitoring Devices § 870.2710 Ear oximeter. (a) Identification. An ear... ear. The amount of reflected or scattered light as indicated by this device is used to measure...

  9. 21 CFR 870.2710 - Ear oximeter.

    Code of Federal Regulations, 2012 CFR

    2012-04-01

    ... 21 Food and Drugs 8 2012-04-01 2012-04-01 false Ear oximeter. 870.2710 Section 870.2710 Food and... CARDIOVASCULAR DEVICES Cardiovascular Monitoring Devices § 870.2710 Ear oximeter. (a) Identification. An ear... ear. The amount of reflected or scattered light as indicated by this device is used to measure...

  10. 21 CFR 870.2710 - Ear oximeter.

    Code of Federal Regulations, 2013 CFR

    2013-04-01

    ... 21 Food and Drugs 8 2013-04-01 2013-04-01 false Ear oximeter. 870.2710 Section 870.2710 Food and... CARDIOVASCULAR DEVICES Cardiovascular Monitoring Devices § 870.2710 Ear oximeter. (a) Identification. An ear... ear. The amount of reflected or scattered light as indicated by this device is used to measure...

  11. Megadolicho vascular malformation of the intracranial arteries.

    PubMed

    Lodder, J; Janevski, B; van der Lugt, P J

    1981-01-01

    A patient is presented suffering a hemiparesis. Megadolicho-vascular malformation of the intracranial part of the internal carotid arteries and some of its branches and of the basilar artery was suggested by CT and confirmed by angiography. The value of CT compared with angiography in relation to intracranial megadolicho vascular malformations is discussed. PMID:6273040

  12. Taking Care of Your Ears

    MedlinePlus

    ... your hands before touching your pierced ears. Applying rubbing alcohol also can help keep germs away. With an adult's help, soak a cotton ball in rubbing alcohol and apply it to both sides of the ...

  13. Keloid above the ear (image)

    MedlinePlus

    Keloids are overgrowths of scar tissue that follow skin injuries. Keloids may appear after such minor trauma as ear piercing. Dark skinned individuals tend to form keloids more readily than lighter skinned individuals.

  14. "Swimmer's Ear" (Otitis Externa) Prevention

    MedlinePlus

    ... Work: Healthy Swimming Policy & Recommendations Fast Facts Healthy Water Sites Healthy Water Drinking Water Healthy Swimming Global ... you requested has moved to Ear Infections. Healthy Water Sites Healthy Water Drinking Water Healthy Swimming Global ...

  15. Avoiding Infection After Ear Piercing

    MedlinePlus

    ... Health Issues Conditions Abdominal ADHD Allergies & Asthma Autism Cancer Chest & Lungs Chronic Conditions Cleft & Craniofacial Developmental Disabilities Ear Nose & Throat Emotional Problems Eyes Fever From Insects or Animals Genitals and Urinary Tract Glands & Growth ...

  16. Middle Ear Infections (For Parents)

    MedlinePlus

    ... in the first 2 to 4 years of life for several reasons: Their eustachian tubes are shorter and more horizontal than those of adults, which lets bacteria and viruses find their way into the middle ear more ...

  17. What Is an Ear Infection?

    MedlinePlus

    ... Quizzes Kids' Dictionary of Medical Words En Español What Other Kids Are Reading Back-to-School Butterflies? ... Got Homework? Here's Help White House Lunch Recipes What Is an Ear Infection? KidsHealth > For Kids > What ...

  18. Multiple Osteomas in Middle Ear

    PubMed Central

    Li, Yongxin; Li, Qiuhuan; Gong, Shusheng; Liu, Honggang; Yu, Zilong; Zhang, Luo

    2012-01-01

    Since the first description of middle ear osteomas by Thomas in 1964, only few reports were published within the English literatures (Greinwalid et al., 1998; Shimizu et al., 2003; Cho et al., 2005; and Jang et al., 2009), and only one case of the multiple osteomas in middle ear was described by Kim et al., 2006, which arose from the promontory, lateral semicircular canal, and epitympanum. Here we describe a patient with multiple middle ear osteomas arising from the promontory, incus, Eustachian tube, and bony semicanal of tensor tympani muscle. This patient also contracted the chronic otitis media in the ipsilateral ear. The osteomas were successfully removed by performing type III tympanoplasty in one stage. PMID:22928138

  19. Visual Fixation in Chiari Type II Malformation

    PubMed Central

    Salman, Michael S.; Sharpe, James A.; Lillakas, Linda; Dennis, Maureen; Steinbach, Martin J.

    2011-01-01

    Chiari type II malformation is a congenital deformity of the hindbrain. Square wave jerks are horizontal involuntary saccades that interrupt fixation. Cerebellar disorders may be associated with frequent square wave jerks or saccadic oscillations such as ocular flutter. The effects of Chiari type II malformation on visual fixation are unknown. We recorded eye movements using an eye tracker in 21 participants with Chiari type II malformation, aged 8 to 19 years while they fixated a target for 1 minute. Thirty-eight age-matched healthy participants served as controls. Square wave jerks’ parameters were similar in the 2 groups. Saccadic oscillations were not seen. Chiari type II malformation is not associated with pathological square wave jerks or abnormal saccadic oscillations. The congenital nature of this deformity may permit compensation that preserves stable visual fixation. Alternatively, the deformity of Chiari type II malformation may spare parts of the cerebellum that usually cause fixation instability when damaged. PMID:19182152

  20. The visible ear surgery simulator.

    PubMed

    Trier, Peter; Noe, Karsten Østergaard; Sørensen, Mads Sølvsten; Mosegaard, Jesper

    2008-01-01

    This paper presents a real-time computer simulation of surgical procedures in the ear, in which a surgeon drills into the temporal bone to gain access to the middle or inner ear. The purpose of this simulator is to support development of anatomical insight and training of drilling skills for both medical students and experienced otologists. The key contributions in this application are the visualization and interaction models in the context of ear surgical simulation. The visualization is based on an existing data set, "The Visible Ear", containing a unique volume depicting the inner ear in natural colours. The applied visualization is based on GPU ray casting, allowing high quality and flexible volume rendering using modern graphics card. In connection with the visualization model, different methods for optimizing the GPU ray casting procedure are presented, along with a method for combining polygon based graphics with volume rendering. In addition, different light models are presented that contribute to a realistic rendering of the different parts of the inner ear. To achieve a physically plausible drilling experience, a Phantom Omni force feedback device is utilized. The applied interaction model facilitates a realistic user experience of the response forces from the drilling tool. PMID:18391361

  1. [Middle ear salivary gland choristoma related to branchio-oto-renal syndrome diagnosed by array-CGH].

    PubMed

    Amrhein, P; Sittel, C; Spaich, C; Kohlhase, J; Boppert, R; Kohlhof, P; Koitschev, A

    2014-05-01

    Branchio-oto-renal (BOR) syndrome is characterized by ear malformations associated with sensorineural or mixed hearing loss. In addition, preauricular tags, preauricular pits, branchial cleft fistulas and cysts, as well as renal dysplasia are seen. A genetic mutation on chromosome 8, either autosomal dominantly inherited or occuring as a spontaneous mutation, is the cause in the majority of cases. Using array-based comparative genomic hybridization (CGH), it is possible to detect even the smallest genetic changes. Salivary gland choristoma in the middle ear is very rare. Surgical removal and histological clarification are required. PMID:23868653

  2. Pathogenesis of Brain Arteriovenous Malformations

    PubMed Central

    KOMIYAMA, Masaki

    2016-01-01

    Brain arteriovenous malformations (bAVMs) represent a high risk of intracranial hemorrhages, which are substantial causes of morbidity and mortality of bAVMs, especially in children and young adults. Although a variety of factors leading to hemorrhages of bAVMs are investigated extensively, their pathogenesis is still not well elucidated. The author has reviewed the updated data of genetic aspects of bAVMs, especially focusing on clinical and experimental knowledge from hereditary hemorrhagic telangiectasia, which is the representative genetic disease presenting with bAVMs caused by loss-of-function in one of the two genes: endoglin and activin receptor-like kinase 1. This knowledge may allow us to infer the pathogensis of sporadic bAVMs and in the development of new medical therapies for them. PMID:27076383

  3. Advanced Imaging of Chiari 1 Malformations.

    PubMed

    Fakhri, Akbar; Shah, Manish N; Goyal, Manu S

    2015-10-01

    Type I Chiari malformations are congenital deformities involving cerebellar tonsillar herniation downward through the foramen magnum. Structurally, greater than 5 mm of tonsillar descent in adults and more than 6 mm in children is consistent with type I Chiari malformations. However, the radiographic severity of the tonsillar descent does not always correlate well with the clinical symptomatology. Advanced imaging can help clinically correlate imaging to symptoms. Specifically, cerebrospinal fluid (CSF) flow abnormalities are seen in patients with type I Chiari malformation. Advanced MRI involving cardiac-gated and phase-contrast MRI affords a view of such CSF flow abnormalities. PMID:26408061

  4. Vascular Malformations: Approach by an Interventional Radiologist

    PubMed Central

    Pimpalwar, Sheena

    2014-01-01

    Children with vascular malformations are best managed with a multidisciplinary team of specialists. Interventional radiology may deliver primary treatment such as staged sclerotherapy and embolization for malformations that are poor candidates for primary surgical resection or play a supportive role such as preoperative or intraoperative embolization. A thorough understanding of vascular morphology and flow dynamics is imperative to choosing the best treatment tool and technique. In this review, the author discusses the selection of techniques and tools used to treat vascular malformations based on their angiographic morphology. PMID:25045335

  5. 3D Printed Bionic Ears

    PubMed Central

    Mannoor, Manu S.; Jiang, Ziwen; James, Teena; Kong, Yong Lin; Malatesta, Karen A.; Soboyejo, Winston O.; Verma, Naveen; Gracias, David H.; McAlpine, Michael C.

    2013-01-01

    The ability to three-dimensionally interweave biological tissue with functional electronics could enable the creation of bionic organs possessing enhanced functionalities over their human counterparts. Conventional electronic devices are inherently two-dimensional, preventing seamless multidimensional integration with synthetic biology, as the processes and materials are very different. Here, we present a novel strategy for overcoming these difficulties via additive manufacturing of biological cells with structural and nanoparticle derived electronic elements. As a proof of concept, we generated a bionic ear via 3D printing of a cell-seeded hydrogel matrix in the precise anatomic geometry of a human ear, along with an intertwined conducting polymer consisting of infused silver nanoparticles. This allowed for in vitro culturing of cartilage tissue around an inductive coil antenna in the ear, which subsequently enables readout of inductively-coupled signals from cochlea-shaped electrodes. The printed ear exhibits enhanced auditory sensing for radio frequency reception, and complementary left and right ears can listen to stereo audio music. Overall, our approach suggests a means to intricately merge biologic and nanoelectronic functionalities via 3D printing. PMID:23635097

  6. 3D printed bionic ears.

    PubMed

    Mannoor, Manu S; Jiang, Ziwen; James, Teena; Kong, Yong Lin; Malatesta, Karen A; Soboyejo, Winston O; Verma, Naveen; Gracias, David H; McAlpine, Michael C

    2013-06-12

    The ability to three-dimensionally interweave biological tissue with functional electronics could enable the creation of bionic organs possessing enhanced functionalities over their human counterparts. Conventional electronic devices are inherently two-dimensional, preventing seamless multidimensional integration with synthetic biology, as the processes and materials are very different. Here, we present a novel strategy for overcoming these difficulties via additive manufacturing of biological cells with structural and nanoparticle derived electronic elements. As a proof of concept, we generated a bionic ear via 3D printing of a cell-seeded hydrogel matrix in the anatomic geometry of a human ear, along with an intertwined conducting polymer consisting of infused silver nanoparticles. This allowed for in vitro culturing of cartilage tissue around an inductive coil antenna in the ear, which subsequently enables readout of inductively-coupled signals from cochlea-shaped electrodes. The printed ear exhibits enhanced auditory sensing for radio frequency reception, and complementary left and right ears can listen to stereo audio music. Overall, our approach suggests a means to intricately merge biologic and nanoelectronic functionalities via 3D printing. PMID:23635097

  7. Ear disorders in scuba divers.

    PubMed

    Azizi, M H

    2011-01-01

    History of underwater diving dates back to antiquity. Breath-hold technique in diving was known to the ancient nations. However, deep diving progressed only in the early decades of the 19th century as the result of advancements in efficient underwater technologies which subsequently led to invention of sophisticated sets of scuba diving in the 20th century. Currently, diving is performed for various purposes including commercial, recreational, military, underwater construction, oil industry, underwater archeology and scientific assessment of marine life. By increasing popularity of underwater diving, dive-related medical conditions gradually became more evident and created a new challenge for the health care professionals, so that eventually, a specialty the so-called "diving medicine" was established. Most of the diving-associated disorders appear in the head and neck. The most common of all occupational disorders associated with diving are otologic diseases. External otitis has been reported as the most common otolaryngologic problem in underwater divers. Exostosis of the external ear canal may be formed in divers as the result of prolonged diving in cold waters. Other disorders of the ear and paranasal sinuses in underwater divers are caused by barometric pressure change (i.e., barotraumas), and to a lesser extent by decompression sickness. Barotrauma of the middle ear is the most prevalent barotrauma in divers. The inner ear barotraumas, though important, is less common. The present paper is a brief overview of diving-related ear disorders particularly in scuba divers. PMID:23022815

  8. Mice Haploinsufficient for Ets1 and Fli1 Display Middle Ear Abnormalities and Model Aspects of Jacobsen Syndrome.

    PubMed

    Carpinelli, Marina R; Kruse, Elizabeth A; Arhatari, Benedicta D; Debrincat, Marlyse A; Ogier, Jacqueline M; Bories, Jean-Christophe; Kile, Benjamin T; Burt, Rachel A

    2015-07-01

    E26 transformation-specific 1 (ETS1) and friend leukemia integration 1 (FLI1) are members of the ETS family of transcription factors, of which there are 28 in humans. Both genes are hemizygous in Jacobsen syndrome, an 11q contiguous gene deletion disorder involving thrombocytopenia, facial dysmorphism, growth and mental retardation, malformation of the heart and other organs, and hearing impairment associated with recurrent ear infections. To determine whether any of these defects are because of hemizygosity for ETS1 and FLI1, we characterized the phenotype of mice heterozygous for mutant alleles of Ets1 and Fli1. Fli1(+/-) mice displayed mild thrombocytopenia, as did Ets1(+/-)Fli1(+/-) animals. Fli1(+/-) and Ets1(+/-)Fli1(+/-) mice also displayed craniofacial abnormalities, including a small middle ear cavity, short nasal bone, and malformed interface between the nasal bone process and cartilaginous nasal septum. They exhibited hearing impairment, otitis media, fusions of ossicles to the middle ear wall, and deformed stapes. Hearing impairment was more penetrant and stapes malformations were more severe in Ets1(+/-)Fli1(+/-) mice than in Fli1(+/-) mice, indicating partial functional redundancy of these transcription factors during auditory development. Our findings indicate that the short nose, otitis media, and hearing impairment in Jacobsen syndrome are likely because of hemizygosity for ETS1 and FLI1. PMID:26093983

  9. Development of the inner ear.

    PubMed

    Whitfield, Tanya T

    2015-06-01

    The vertebrate inner ear is a sensory organ of exquisite design and sensitivity. It responds to sound, gravity and movement, serving both auditory (hearing) and vestibular (balance) functions. Almost all cell types of the inner ear, including sensory hair cells, sensory neurons, secretory cells and supporting cells, derive from the otic placode, one of the several ectodermal thickenings that arise around the edge of the anterior neural plate in the early embryo. The developmental patterning mechanisms that underlie formation of the inner ear from the otic placode are varied and complex, involving the reiterative use of familiar signalling pathways, together with roles for transcription factors, transmembrane proteins, and extracellular matrix components. In this review, I have selected highlights that illustrate just a few of the many recent discoveries relating to the development of this fascinating organ system. PMID:25796080

  10. Update on the management of anorectal malformations.

    PubMed

    Bischoff, Andrea; Levitt, Marc A; Peña, Alberto

    2013-09-01

    Thirty-three years ago, on 10 August 1980, in Mexico City, the first patient with an anorectal malformation was operated on using the posterior sagittal approach. At that time it was not obvious that we were actually opening a "Pandora's box" that continues to give many positive surprises, a few disappointments, and the constant hope that each day we can learn more about how to improve the quality of life of children born with all different types of anorectal malformations. In November 2012, patient number 3000 in our database was operated in the city of Cochabamba, Bolivia; during one of our International Courses of Anorectal Malformations and Colorectal Problems in Children. The goal of this article is to give a brief update on the current management of patients with anorectal malformation, based on the multiple lessons learned during this period. PMID:23913263

  11. Revision surgery for Chiari malformation decompression.

    PubMed

    Mazzola, Catherine A; Fried, Arno H

    2003-09-15

    Chiari malformations comprise four different hindbrain anomalies originally described by Hans Chiari, a professor of pathology at the German University in Prague. There are four basic Chiari malformations. The reasons for revision of Chiari malformation decompression may be for conservative or inadequate initial decompression or the development of postoperative complications. Another reason involves cases of both hindbrain herniation and syringomyelia in patients who have undergone adequate posterior fossa decompression without resolution of symptoms, signs, or radiological appearance of their syrinx cavity. Additionally, symptom recurrence has been reported in association with various types of dural grafts. Reoperation or revision surgery for patients with Chiari malformations is common and may not be due to technical error or inadequate decompression. The types of revision surgeries, their indications, and initial presentations will be reviewed. PMID:15347221

  12. A Noncoding Point Mutation of Zeb1 Causes Multiple Developmental Malformations and Obesity in Twirler Mice

    PubMed Central

    Kurima, Kiyoto; Hertzano, Ronna; Gavrilova, Oksana; Monahan, Kelly; Shpargel, Karl B.; Nadaraja, Garani; Kawashima, Yoshiyuki; Lee, Kyu Yup; Ito, Taku; Higashi, Yujiro; Eisenman, David J.; Strome, Scott E.; Griffith, Andrew J.

    2011-01-01

    Heterozygous Twirler (Tw) mice develop obesity and circling behavior associated with malformations of the inner ear, whereas homozygous Tw mice have cleft palate and die shortly after birth. Zeb1 is a zinc finger protein that contributes to mesenchymal cell fate by repression of genes whose expression defines epithelial cell identity. This developmental pathway is disrupted in inner ears of Tw/Tw mice. The purpose of our study was to comprehensively characterize the Twirler phenotype and to identify the causative mutation. The Tw/+ inner ear phenotype includes irregularities of the semicircular canals, abnormal utricular otoconia, a shortened cochlear duct, and hearing loss, whereas Tw/Tw ears are severely malformed with barely recognizable anatomy. Tw/+ mice have obesity associated with insulin-resistance and have lymphoid organ hypoplasia. We identified a noncoding nucleotide substitution, c.58+181G>A, in the first intron of the Tw allele of Zeb1 (Zeb1Tw). A knockin mouse model of c.58+181G>A recapitulated the Tw phenotype, whereas a wild-type knockin control did not, confirming the mutation as pathogenic. c.58+181G>A does not affect splicing but disrupts a predicted site for Myb protein binding, which we confirmed in vitro. In comparison, homozygosity for a targeted deletion of exon 1 of mouse Zeb1, Zeb1ΔEx1, is associated with a subtle abnormality of the lateral semicircular canal that is different than those in Tw mice. Expression analyses of E13.5 Twirler and Zeb1ΔEx1 ears confirm that Zeb1ΔEx1 is a null allele, whereas Zeb1Tw RNA is expressed at increased levels in comparison to wild-type Zeb1. We conclude that a noncoding point mutation of Zeb1 acts via a gain-of-function to disrupt regulation of Zeb1Tw expression, epithelial-mesenchymal cell fate or interactions, and structural development of the inner ear in Twirler mice. This is a novel mechanism underlying disorders of hearing or balance. PMID:21980308

  13. Mutations in KCTD1 Cause Scalp-Ear-Nipple Syndrome

    PubMed Central

    Marneros, Alexander G.; Beck, Anita E.; Turner, Emily H.; McMillin, Margaret J.; Edwards, Matthew J.; Field, Michael; de Macena Sobreira, Nara Lygia; Perez, Ana Beatriz A.; Fortes, Jose A.R.; Lampe, Anne K.; Giovannucci Uzielli, Maria Luisa; Gordon, Christopher T.; Plessis, Ghislaine; Le Merrer, Martine; Amiel, Jeanne; Reichenberger, Ernst; Shively, Kathryn M.; Cerrato, Felecia; Labow, Brian I.; Tabor, Holly K.; Smith, Joshua D.; Shendure, Jay; Nickerson, Deborah A.; Bamshad, Michael J.

    2013-01-01

    Scalp-ear-nipple (SEN) syndrome is a rare, autosomal-dominant disorder characterized by cutis aplasia of the scalp; minor anomalies of the external ears, digits, and nails; and malformations of the breast. We used linkage analysis and exome sequencing of a multiplex family affected by SEN syndrome to identify potassium-channel tetramerization-domain-containing 1 (KCTD1) mutations that cause SEN syndrome. Evaluation of a total of ten families affected by SEN syndrome revealed KCTD1 missense mutations in each family tested. All of the mutations occurred in a KCTD1 region encoding a highly conserved bric-a-brac, tram track, and broad complex (BTB) domain that is required for transcriptional repressor activity. KCTD1 inhibits the transactivation of the transcription factor AP-2α (TFAP2A) via its BTB domain, and mutations in TFAP2A cause cutis aplasia in individuals with branchiooculofacial syndrome (BOFS), suggesting a potential overlap in the pathogenesis of SEN syndrome and BOFS. The identification of KCTD1 mutations in SEN syndrome reveals a role for this BTB-domain-containing transcriptional repressor during ectodermal development. PMID:23541344

  14. Malformation and plastic surgery in childhood

    PubMed Central

    Siegert, Ralf; Magritz, Ralph

    2014-01-01

    Malformations of the head and neck show a huge variety of clinical symptoms with functional and esthetic consequences. Often times its rehabilitation requires multi-staged and multi-disciplinary procedures and concepts. These must consider eating, speech, mimic expression, hearing and “esthetics” or at least “normality”. A survey of the most common head and neck malformations and their treatment options are presented here. PMID:25587361

  15. The Microcephaly-Capillary Malformation Syndrome

    PubMed Central

    Mirzaa, Ghayda M.; Paciorkowski, Alex R.; Smyser, Christopher D.; Willing, Marcia C.; Lind, Anne C.; Dobyns, William B.

    2012-01-01

    We report on three children from two families with a new pattern recognition malformation syndrome consisting of severe congenital microcephaly (MIC), intractable epilepsy including infantile spasms, and generalized capillary malformations that was first reported recently in this journal [Carter et al. (2011); Am J Med Genet A 155: 301–306]. Two of our reported patients are an affected brother and sister, suggesting this is an autosomal recessive severe congenital MIC syndrome. PMID:21815250

  16. Spontaneous arteriovenous malformations in the cervical area

    PubMed Central

    Greenberg, J.

    1970-01-01

    Four patients with spontaneous arteriovenous malformations of cervical vessels have been presented. The embryology of these vessels has been discussed in order to suggest an explanation for the apparent difference in the incidence of arteriovenous malformations involving the internal carotid artery and those involving either the vertebral or the external carotid arteries. A fifth case (S.T.) is presented as a probable iatrogenic arteriovenous fistula and is to be added to the steadily growing reports of this phenomenon. Images PMID:5431722

  17. Lymphangiosarcoma complicating extensive congenital mixed vascular malformations.

    PubMed

    Al Dhaybi, Rola; Agoumi, Mehdi; Powell, Julie; Dubois, Josée; Kokta, Victor

    2010-09-01

    Pediatric hepatic angiosarcoma is a very rare malignant vascular tumor. A few cases have shown pediatric hepatic angiosarcoma occurring on a background of preexisting vascular lesions. We report the case of a newborn girl who presented extensive limbs and upper trunk cutaneous mixed vascular malformations at birth. These malformations were associated with thrombocytopenia. Cutaneous biopsies revealed complex vascular malformations with a significant lymphatic component. Compressive body suit therapy led to regression of the limbs' cutaneous vascular malformations. At the age of 9 months, the patient presented multiple heterogeneous hepatosplenic nodules. Aggressive treatment with prednisone, vincristine, and hepatosplenic embolizations resulted in initial improvement of the hepatosplenic lesions for few months, followed by an increase of the lesions with failure of response to treatment despite adding alpha-interferon-2b to treatment. The patient died at the age of 19 months. The autopsy's pathological examination revealed a hepatic-based angiosarcoma with plurimetastatic dissemination to the spleen, lungs, peritoneum, pleura, mesenteric linings as well as the serosa of the stomach and small intestine. Multiple cutaneous and visceral complex capillaro-lymphatico-venous malformations were also identified. We hypothesize that these multiple extensive mixed vascular malformations were associated with chronic lymphedema which probably predisposed to the development of the angiosarcoma in our patient. PMID:20863270

  18. Venous Malformation: update on etiopathogenesis, diagnosis & management

    PubMed Central

    Dompmartin, Anne; Vikkula, Miikka; Boon, Laurence M

    2011-01-01

    The aim of this review was to discuss the current knowledge on etiopathogenesis, diagnosis and therapeutic management of venous malformations. Venous malformations (VMs) are slow-flow vascular anomalies. They are simple, sporadic or familial (cutaneo-mucosal venous malformation or glomuvenous malformations), combined (e.g. capillaro-venous, capillaro-lymphaticovenous malformations) or syndromic (Klippel-Trenaunay, Blue Rubber Bleb Naevus and Maffucci). Genetic studies have identified causes of familial forms and of 40% of sporadic VMs. Another diagnostic advancement is the identification of elevated D-dimer level as the first biomarker of venous malformations within vascular anomalies. Those associated with pain are often responsive to Low Molecular Weight Heparin which should also be used to avoid disseminated intravascular coagulopathy secondary to intervention, especially if fibrinogen level is low. Finally, development of a modified sclerosing agent, ethylcellulose–ethanol, has improved therapy. It is efficient and safe, and widens indications for sclerotherapy to sensitive and dangerous areas such as hands, feet and periocular area. PMID:20870869

  19. How to Prevent Painful Swimmer's Ear

    MedlinePlus

    ... fullstory_159452.html How to Prevent Painful Swimmer's Ear Simple steps after a day in the water ... 2016 SATURDAY, June 18, 2016 (HealthDay News) -- Swimmer's ear -- a common summertime problem among children -- is easy ...

  20. Infant Ear Infections Becoming Less Common

    MedlinePlus

    ... who is director of pediatric otolaryngology at the New York Eye and Ear Infirmary of Mount Sinai, in New ... Galveston; Joseph Bernstein, M.D., director, pediatric otolaryngology, New York Eye and Ear Infirmary of Mount Sinai, New York ...

  1. Physiological functioning of the ear and masking

    NASA Technical Reports Server (NTRS)

    1984-01-01

    The physiological functions of the ear and the role masking plays in speech communication are examined. Topics under investigation include sound analysis of the ear, the aural reflex, and various types of noise masking.

  2. Pediatric Obesity and Ear, Nose, and Throat Disorders

    MedlinePlus

    ... an ENT Doctor Near You Pediatric Obesity and Ear, Nose, and Throat Disorders Pediatric Obesity and Ear, ... all children be regularly screened for snoring. Middle ear infections Acute otitis media (AOM) and chronic ear ...

  3. Proteomics and the Inner Ear

    PubMed Central

    Thalmann, Isolde

    2001-01-01

    The inner ear, one of the most complex organs, contains within its bony shell three sensory systems, the evolutionary oldest gravity receptor system, the three semicircular canals for the detection of angular acceleration, and the auditory system - unrivaled in sensitivity and frequency discrimination. All three systems are susceptible to a host of afflictions affecting the quality of life for all of us. In the first part of this review we present an introduction to the milestones of inner ear research to pave the way for understanding the complexities of a proteomics approach to the ear. Minute sensory structures, surrounded by large fluid spaces and a hard bony shell, pose extreme challenges to the ear researcher. In spite of these obstacles, a powerful preparatory technique was developed, whereby precisely defined microscopic tissue elements can be isolated and analyzed, while maintaining the biochemical state representative of the in vivo conditions. The second part consists of a discussion of proteomics as a tool in the elucidation of basic and pathologic mechanisms, diagnosis of disease, as well as treatment. Examples are the organ of Corti proteins OCP1 and OCP2, oncomodulin, a highly specific calcium-binding protein, and several disease entities, Meniere's disease, benign paroxysmal positional vertigo, and perilymphatic fistula. PMID:11790893

  4. The caecilian ear: further observations.

    PubMed

    Wever, E G; Gans, C

    1976-10-01

    The structure of the ear is examined in two species of caecilians, Ichthyophis glutinosus and I. orthoplicatus, and the sensitivity to aerial sounds is assessed in terms of the electrical potentials of the cochlea. The results are in general agreement with previous reports on other caecilian species. PMID:1068485

  5. 21 CFR 878.3590 - Ear prosthesis.

    Code of Federal Regulations, 2013 CFR

    2013-04-01

    ... 21 Food and Drugs 8 2013-04-01 2013-04-01 false Ear prosthesis. 878.3590 Section 878.3590 Food and... GENERAL AND PLASTIC SURGERY DEVICES Prosthetic Devices § 878.3590 Ear prosthesis. (a) Identification. An ear prosthesis is a silicone rubber solid device intended to be implanted to reconstruct the...

  6. 21 CFR 878.3590 - Ear prosthesis.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... 21 Food and Drugs 8 2010-04-01 2010-04-01 false Ear prosthesis. 878.3590 Section 878.3590 Food and... GENERAL AND PLASTIC SURGERY DEVICES Prosthetic Devices § 878.3590 Ear prosthesis. (a) Identification. An ear prosthesis is a silicone rubber solid device intended to be implanted to reconstruct the...

  7. 21 CFR 878.3590 - Ear prosthesis.

    Code of Federal Regulations, 2012 CFR

    2012-04-01

    ... 21 Food and Drugs 8 2012-04-01 2012-04-01 false Ear prosthesis. 878.3590 Section 878.3590 Food and... GENERAL AND PLASTIC SURGERY DEVICES Prosthetic Devices § 878.3590 Ear prosthesis. (a) Identification. An ear prosthesis is a silicone rubber solid device intended to be implanted to reconstruct the...

  8. Immunologic Disorders of the Inner Ear.

    ERIC Educational Resources Information Center

    Kinney, William C.; Hughes, Gordon B.

    1997-01-01

    Immune inner ear disease represents a series of immune system mediated problems that can present with hearing loss, dizziness, or both. The etiology, presentation, testing, and treatment of primary immune inner ear disease is discussed. A review of secondary immune inner ear disease is presented for comparison. (Contains references.) (Author/CR)

  9. Can Loud Music Hurt My Ears?

    MedlinePlus

    ... Here's Help White House Lunch Recipes Can Loud Music Hurt My Ears? KidsHealth > For Kids > Can Loud Music Hurt My Ears? Print A A A Text ... up? Oh! You want to know if loud music can hurt your ears . Are you asking because ...

  10. Gbx2 is required for the morphogenesis of the mouse inner ear: a downstream candidate of hindbrain signaling.

    PubMed

    Lin, Zhengshi; Cantos, Raquel; Patente, Maria; Wu, Doris K

    2005-05-01

    Gbx2 is a homeobox-containing transcription factor that is related to unplugged in Drosophila. In mice, Gbx2 and Otx2 negatively regulate each other to establish the mid-hindbrain boundary in the neural tube. Here, we show that Gbx2 is required for the development of the mouse inner ear. Absence of the endolymphatic duct and swelling of the membranous labyrinth are common features in Gbx2-/- inner ears. More severe mutant phenotypes include absence of the anterior and posterior semicircular canals, and a malformed saccule and cochlear duct. However, formation of the lateral semicircular canal and its ampulla is usually unaffected. These inner ear phenotypes are remarkably similar to those reported in kreisler mice, which have inner ear defects attributed to defects in the hindbrain. Based on gene expression analyses, we propose that activation of Gbx2 expression within the inner ear is an important pathway whereby signals from the hindbrain regulate inner ear development. In addition, our results suggest that Gbx2 normally promotes dorsal fates such as the endolymphatic duct and semicircular canals by positively regulating genes such as Wnt2b and Dlx5. However, Gbx2 promotes ventral fates such as the saccule and cochlear duct, possibly by restricting Otx2 expression. PMID:15829521

  11. The Effect of Ear Canal Pressure on Spontaneous Otoacoustic Emissions:. Comparison Between Human and Lizard Ears

    NASA Astrophysics Data System (ADS)

    van Dijk, P.; Manley, G. A.

    2009-02-01

    The center frequency, height and width of peaks in SOAE spectra depend on ear canal pressure. The width is interpreted as a measure of the inner ear source-signal-to-(e.g. thermal)-noise ratio. In humans, width increases with decreasing height. Apparently, ear canal pressure modifies the amplitude of the inner ear emission source signal. In lizards, the relation between peak width and height is not consistent. Here, middle ear transmission changes may account for many the observed amplitude effects.

  12. Surgical management of arteriovenous malformation.

    PubMed

    Visser, Anniek; FitzJohn, Trevor; Tan, Swee T

    2011-03-01

    This article presents our experience in managing a series of consecutive patients with arteriovenous malformation (AVM) referred to our Vascular Anomalies Centre over a 14-year period. These patients were culled from our prospective Vascular Anomalies Database 1996-2010. The medical records of these patients were reviewed to supplement the data collected. Out of 1131 patients with vascular anomalies, 53 patients (22 males, 31 females) with AVM were identified. Their mean age was 29 (range: 3-88) years with 14 stage-III, 34 stage-II and five stage-I AVMs, affecting the head and neck area (n=32), lower limb (n=13), upper limb (n=7) and trunk (n=1). Eight patients with eight stage-III and 14 patients with 15 stage-II AVMs underwent definitive surgery following preoperative embolisation in 10 patients. Seventeen patients required reconstruction with free flaps (n=8) or local or regional flaps (n=9), tissue expansion (n=4), tendon recession (n=1), tendon transfer (n=1), osseo-integration (n=1) and skin grafting (n=5). Fourteen patients required a combination of reconstructive techniques. During an average follow-up of 54 (range: 10-135) months, two (8.7%) lesions recurred but were improved following surgery. One patient with life-threatening stage-III AVM underwent 'palliative' surgery following preoperative embolisation and the lesion had improved and remained stable during the 4-year follow-up period. AVM is a challenging clinical problem that requires a multidisciplinary team approach. Complete surgical excision remains the gold-standard treatment and immediate reconstruction is an integral part of definitive surgery for AVM. The heterogeneous nature of AVM requires treatment to be tailored for individual patients and the complex excision defects necessitate expertise in a variety of reconstructive techniques. Our experience shows a recurrence rate of 8.7% following definitive surgery for AVM. PMID:20663728

  13. LDV measurement of bird ear vibrations to determine inner ear impedance and middle ear power flow

    NASA Astrophysics Data System (ADS)

    Muyshondt, Pieter G. G.; Pires, Felipe; Dirckx, Joris J. J.

    2016-06-01

    The mechanical behavior of the middle ear structures in birds and mammals is affected by the fluids in the inner ear (IE) that are present behind the oval window. In this study, the aim was to gather knowledge of the acoustic impedance of the IE in the ostrich, to be able to determine the effect on vibrations and power flow in the single-ossicle bird middle ear for future studies. To determine the IE impedance, vibrations of the ossicle were measured for both the quasi-static and acoustic stimulus frequencies. In the acoustic regime, vibrations were measured with a laser Doppler vibrometer and electromagnetic stimulation of the ossicle. The impedance of the inner ear could be determined by means of a simple RLC model in series, which resulted in a stiffness reactance of KIE = 0.20.1012 Pa/m3, an inertial impedance of MIE = 0.652.106 Pa s2/m3, and a resistance of RIE = 1.57.109 Pa s/m. The measured impedance is found to be considerably smaller than what is found for the human IE.

  14. Spectrum of urorectal septum malformation sequence.

    PubMed

    Shah, Krupa; Nayak, Shalini S; Shukla, Anju; Girisha, Katta M

    2016-05-01

    Urorectal septum malformation sequence (URSMS) is a rare spectrum of malformations involving various organ systems. Here, we present eight cases of URSMS, noted in autopsy, with different degrees of complexity, seven being the complete type and one being the partial type. All cases had gastrointestinal tract malformation in the form of the imperforate anus and indeterminate genitalia. Other gastrointestinal tract anomalies were anal agenesis in two cases, anorectal agenesis in two cases, and malformed lower intestinal tract in four cases. The associated renal abnormality was noted in five cases, which were unilateral renal agenesis, dysplastic kidney, hydronephrosis, horseshoe kidney, and unilateral hypoplastic ectopic kidney. External genital malformation, present in both male and female fetuses, included a knob-like structure at perineum in female fetuses, genital fold hypoplasia and penile aplasia or hypoplasia in male fetuses. Skeletal abnormalities included two cases of sacral agenesis and one case of lumbosacral dysraphism. Other anomalies included a case with alobar holoprosencephaly, truncus arteriosus with hypoplastic lungs in one case, and three cases with abdominal wall defects. It is our attempt to delineate a spectrum of abnormalities associated with URSMS. PMID:26663027

  15. EEG Recorded from the Ear: Characterizing the Ear-EEG Method

    PubMed Central

    Mikkelsen, Kaare B.; Kappel, Simon L.; Mandic, Danilo P.; Kidmose, Preben

    2015-01-01

    Highlights Auditory middle and late latency responses can be recorded reliably from ear-EEG.For sources close to the ear, ear-EEG has the same signal-to-noise-ratio as scalp.Ear-EEG is an excellent match for power spectrum-based analysis. A method for measuring electroencephalograms (EEG) from the outer ear, so-called ear-EEG, has recently been proposed. The method could potentially enable robust recording of EEG in natural environments. The objective of this study was to substantiate the ear-EEG method by using a larger population of subjects and several paradigms. For rigor, we considered simultaneous scalp and ear-EEG recordings with common reference. More precisely, 32 conventional scalp electrodes and 12 ear electrodes allowed a thorough comparison between conventional and ear electrodes, testing several different placements of references. The paradigms probed auditory onset response, mismatch negativity, auditory steady-state response and alpha power attenuation. By comparing event related potential (ERP) waveforms from the mismatch response paradigm, the signal measured from the ear electrodes was found to reflect the same cortical activity as that from nearby scalp electrodes. It was also found that referencing the ear-EEG electrodes to another within-ear electrode affects the time-domain recorded waveform (relative to scalp recordings), but not the timing of individual components. It was furthermore found that auditory steady-state responses and alpha-band modulation were measured reliably with the ear-EEG modality. Finally, our findings showed that the auditory mismatch response was difficult to monitor with the ear-EEG. We conclude that ear-EEG yields similar performance as conventional EEG for spectrogram-based analysis, similar timing of ERP components, and equal signal strength for sources close to the ear. Ear-EEG can reliably measure activity from regions of the cortex which are located close to the ears, especially in paradigms employing frequency

  16. EEG Recorded from the Ear: Characterizing the Ear-EEG Method.

    PubMed

    Mikkelsen, Kaare B; Kappel, Simon L; Mandic, Danilo P; Kidmose, Preben

    2015-01-01

    Highlights Auditory middle and late latency responses can be recorded reliably from ear-EEG.For sources close to the ear, ear-EEG has the same signal-to-noise-ratio as scalp.Ear-EEG is an excellent match for power spectrum-based analysis. A method for measuring electroencephalograms (EEG) from the outer ear, so-called ear-EEG, has recently been proposed. The method could potentially enable robust recording of EEG in natural environments. The objective of this study was to substantiate the ear-EEG method by using a larger population of subjects and several paradigms. For rigor, we considered simultaneous scalp and ear-EEG recordings with common reference. More precisely, 32 conventional scalp electrodes and 12 ear electrodes allowed a thorough comparison between conventional and ear electrodes, testing several different placements of references. The paradigms probed auditory onset response, mismatch negativity, auditory steady-state response and alpha power attenuation. By comparing event related potential (ERP) waveforms from the mismatch response paradigm, the signal measured from the ear electrodes was found to reflect the same cortical activity as that from nearby scalp electrodes. It was also found that referencing the ear-EEG electrodes to another within-ear electrode affects the time-domain recorded waveform (relative to scalp recordings), but not the timing of individual components. It was furthermore found that auditory steady-state responses and alpha-band modulation were measured reliably with the ear-EEG modality. Finally, our findings showed that the auditory mismatch response was difficult to monitor with the ear-EEG. We conclude that ear-EEG yields similar performance as conventional EEG for spectrogram-based analysis, similar timing of ERP components, and equal signal strength for sources close to the ear. Ear-EEG can reliably measure activity from regions of the cortex which are located close to the ears, especially in paradigms employing frequency

  17. Some Remarks on Imaging of the Inner Ear: Options and Limitations.

    PubMed

    Giesemann, A; Hofmann, E

    2015-10-01

    The temporal bone has a highly complex anatomical structure, in which the sensory organs of the cochlea and the vestibular system are contained within a small space together with the sound-conducting system of the middle ear. Detailed imaging is thus required in this anatomical area. There are a great many clinical aims for which the highest-possible spatial resolution is required. These include the localization of cerebrospinal fluid fistulas, the detection of malformations of the middle and inner ear and the vestibulocochlear nerve, an aberrant course of the facial nerve and anomalies of the arterial and venous structures, the confirmation of dehiscence of the semicircular canals and finally, the verification of endolymphatic hydrops in cases of Ménière's disease. However, the term 'high resolution' is very time dependent. Two milestones in this respect have been (in 1991) the 3D visualization of the inner ear by means of maximum-intensity projection (MIP) of a T2-weighted constructive interference in steady state (CISS) sequence of a 1.5-tesla magnetic resonance imaging (MRI) scanner (Tanioka et al., Radiology 178:141-144, 1991) and (in 1997) imaging of the vestibulocochlear nerve for the diagnosis of hypoplasia inside the internal auditory canal using the same sequence (Casselman et al., Radiology 202:773-781, 1997).The objective of this article is to highlight the options for, and the challenges of, contemporary imaging with regard to some clinical issues relating to the inner ear. PMID:26153464

  18. Sex hormone exposure during pregnancy and malformations.

    PubMed

    Briggs, M H; Briggs, M

    1979-01-01

    This general review of the effects of exposure to sex hormones during pregnancy and subsequent fetal malformation presents summaries of animal studies, develops the data indicating virilization and feminization in humans, documents chromosome abnormalities, and presents data on the connection of steroid exposure in utero and somatic malformations. Fetal exposure can occur 3 different ways, through hormonal pregnancy test, via obstetrical use of hormones, or because of continued maternal use of oral contraceptives after conception. In the latter case, an ongoing prospective study indicates that accidental ingestion of oral contraceptives after conception is not harmful to the fetus if taken during early pregnancy. Tables present summaries of numerous large surveys and retrospective studies linking particular sex hormones (exogenous) to particular fetal malformations including neural tube defects and other constellations of developmental problems. The question of exogenous hormone effects on the personality of infants who were exposed in utero is addressed. PMID:400321

  19. Anorectal Malformation: Paediatric Problem Presenting in Adult.

    PubMed

    Chavan, Rahulkumar N; Chikkala, Bhargav; Das, Cinjini; Biswas, Somak; Sarkar, Diptendra Kumar; Pandey, Sushil Kumar

    2015-01-01

    This is a case report of 22-year-old girl admitted with abdominal distension, vomiting, and chronic constipation since birth. Abdomen was distended, and perineal examination revealed imperforate anus with vestibular fistula (ARM). So far worldwide very few cases have been reported about anorectal malformation presenting in adulthood, and thus extremely little data is available in the literature about an ideal management of anorectal malformation in adults. In our case in the treatment instead of conventional procedure of posterior sagittal anorectoplasty (PSARP) anal transposition was done and till two years after the definitive treatment during follow-up patient has been doing well with Kelly's score of six. Our experience suggests that anal transposition provides satisfactory outcome in adults presenting late with anorectal malformation. PMID:26539301

  20. Anorectal Malformation: Paediatric Problem Presenting in Adult

    PubMed Central

    Chavan, Rahulkumar N.; Chikkala, Bhargav; Das, Cinjini; Biswas, Somak; Sarkar, Diptendra Kumar; Pandey, Sushil Kumar

    2015-01-01

    This is a case report of 22-year-old girl admitted with abdominal distension, vomiting, and chronic constipation since birth. Abdomen was distended, and perineal examination revealed imperforate anus with vestibular fistula (ARM). So far worldwide very few cases have been reported about anorectal malformation presenting in adulthood, and thus extremely little data is available in the literature about an ideal management of anorectal malformation in adults. In our case in the treatment instead of conventional procedure of posterior sagittal anorectoplasty (PSARP) anal transposition was done and till two years after the definitive treatment during follow-up patient has been doing well with Kelly's score of six. Our experience suggests that anal transposition provides satisfactory outcome in adults presenting late with anorectal malformation. PMID:26539301

  1. Pathogenesis of Middle Ear Cholesteatoma

    PubMed Central

    Yamamoto-Fukuda, Tomomi; Hishikawa, Yoshitaka; Shibata, Yasuaki; Kobayashi, Toshimitsu; Takahashi, Haruo; Koji, Takehiko

    2010-01-01

    Middle ear cholesteatoma is characterized by enhanced proliferation of epithelial cells with aberrant morphological characteristics. To investigate the origin of the cholesteatoma cells, we analyzed spontaneously occurring cholesteatomas associated with a new transplantation model in Mongolian gerbils (gerbils). Cholesteatomas were induced in gerbils with a transplanted tympanic membrane by using the external auditory canal (EAC) ligation method. After the pars flaccida of the tympanic membranes were completely removed from male gerbils, corresponding portions of tympanic membranes of female gerbils were transplanted to the area of defect, and then we ligated the EAC (hybrid-model group). As a control group, the EAC of normal male and female gerbils was ligated without myringoplasty. In all ears of each group, the induced cholesteatomas were seen. In situ PCR was then performed to detect the mouse X chromosome-linked phosphoglycerate kinase-1 (pgk-1) gene on the paraffin sections. One pgk-1 spot in the epithelial nuclei was detected in male cholesteatoma, and two pgk-1 spots were detected in female cholesteatoma, respectively. On the other hand, in the hybrid-model group, we detected not only one but also two pgk-1 spots in the epithelial nuclei of cholesteatoma. These results strengthened the evidence that the origin of epithelial cells in cholesteatoma is the tympanic membrane in this model, but not the residential middle ear epithelial cells or the skin of the EAC. PMID:20413684

  2. The War of Jenkins’ Ear

    PubMed Central

    Graboyes, Evan M.; Hullar, Timothy E.

    2012-01-01

    Objective In 1731, Spanish sailors boarded the British brig Rebecca off the coast of Cuba and sliced off the left ear of its captain, Robert Jenkins. This traumatic auriculectomy was used as a pretext by the British to declare war on Spain in 1739, a conflict that is now known as the War of Jenkins’ Ear. Here, we examine the techniques available for auricular repair at the time of Jenkins’ injury and relate them to the historical events surrounding the incident. Methods Review of relevant original published manuscripts and monographs. Results Surgeons in the mid-18th century did not have experience with repair of traumatic total auriculectomies. Some contemporary surgeons favored auricular prostheses over surgical treatment. Methods for the reconstruction of partial defects were available, and most authors advocated a local post-auricular flap instead of a free tissue transfer. Techniques for repair of defects of the auricle lagged behind those for repair of the nose. Conclusion Limitations in care of traumatic auricular defects may have intensified the significance of Jenkins’ injury and helped lead to the War of Jenkins’ Ear, but conflict between Britain and Spain was probably unavoidable due to their conflicting commercial interests in the Caribbean. PMID:23444484

  3. Percutaneous Cryotherapy of Vascular Malformation: Initial Experience

    SciTech Connect

    Cornelis, F.; Neuville, A.; Labreze, C.; Kind, M.; Bui, B.; Midy, D.; Palussiere, J.; Grenier, N.

    2013-06-15

    The present report describes a case of percutaneous cryotherapy in a 36-year-old woman with a large and painful pectoral venous malformation. Cryoablation was performed in a single session for this 9-cm mass with 24 h hospitalisation. At 2- and 6-month follow-up, the pain had completely disappeared, and magnetic resonance imaging demonstrated a significant decrease in size. Percutaneous cryoablation shows promise as a feasible and apparently safe method for local control in patients with symptomatic venous vascular malformations.

  4. Retroperitoneal vascular malformation mimicking incarcerated inguinal hernia.

    PubMed

    Dubey, Indu Bhushan; Sharma, Anuj; Singh, Ajay Kumar; Mohanty, Debajyoti

    2011-01-01

    A 30-year-old man presented to the Department of Surgery with a painful groin swelling on right side. Exploration revealed a reddish-blue hemangiomatous mass in the scrotum extending through inguinal canal into the retroperitoneum. On further dissection swelling was found to be originating from right external iliac vein. The swelling was excised after ligating all vascular connections. The histopathological examination of excised mass confirmed the diagnosis of venous variety of vascular malformation. This is the first reported case of vascular malformation arising from retroperitoneum and extending into inguinoscrotal region, presenting as incarcerated inguinal hernia. PMID:21633582

  5. Congenital Malformations Leading to Paradoxical Embolism.

    PubMed

    Bruckheimer, Elchanan

    2016-05-01

    The absolute separation of the right and left circulations and the filtration of blood by the pulmonary circulation are essential to prevent the passage of thrombotic material from the venous system into the systemic arterial circulation. Any breach of the intracardiac septae or circumvention of the pulmonary capillary network may cause a paradoxical embolus. The most common causes are atrial septal defects and pulmonary arteriovenous malformations. This article discusses unusual connections and pathways related to congenital malformations. Although anticoagulation is necessary to prevent paradoxical emboli, the hematologic disturbances and the most appropriate therapy in these patients warrant further investigation. PMID:27150173

  6. Mayer-Rokitansky syndrome and anorectal malformation.

    PubMed

    Patankar, Shreeprasad P; Kalrao, Vijay; Patankar, Shilpa S

    2004-12-01

    Mayer Rokitansky Kuster Houser syndrome (MRKH syndrome) is characterized by Mullerian duct structures agenesis, vaginal atresia being the commonest variant. It can be associated with renal, skeletal, spine and other malformations. Patient with Mayer Rokitansky syndrome has a varied presentation from newborn period to adolescence. Thorough investigations are required for classification of the syndrome and diagnosis of associated anomalies. The MRKH syndrome patient may require complex vaginal reconstructive surgery and a detailed counseling about the potentials of menstruation and fertility. Here we are presenting a patient having association of anorectal malformation, Mullerian duct agenesis and renal anomaly. PMID:15630325

  7. Neurodevelopmental malformations of the cerebellar vermis in genetically engineered rats

    EPA Science Inventory

    The cerebellar vermis is particularly vulnerable to neurodevelopmental malformations in humans and rodents. Sprague-Dawley, and Long-Evans rats exhibit spontaneous cerebellar malformations consisting of heterotopic neurons and glia in the molecular layer of the vermis. Malformati...

  8. Ear canal dynamic motion as a source of power for in-ear devices

    NASA Astrophysics Data System (ADS)

    Delnavaz, Aidin; Voix, Jérémie

    2013-02-01

    Ear canal deformation caused by temporomandibular joint (jaw joint) activity, also known as "ear canal dynamic motion," is introduced in this paper as a candidate source of power to possibly recharge hearing aid batteries. The geometrical deformation of the ear canal is quantified in 3D by laser scanning of different custom ear moulds. An experimental setup is proposed to measure the amount of power potentially available from this source. The results show that 9 mW of power is available from a 15 mm3 dynamic change in the ear canal volume. Finally, the dynamic motion and power capability of the ear canal are investigated in a group of 12 subjects.

  9. [Lymphatic malformations in the head and neck area].

    PubMed

    Wiegand, S; Werner, J A

    2016-02-01

    Lymphatic malformations are congenital malformations of the lymphatic system. They are mainly located in the head and neck area, and grow proportional to the patients' body growth. Depending on the morphology, it can be distinguished between macrocystic, microcystic and mixed lymphatic malformations. Due to their infiltrative growth, microcystic lymphatic malformations are particularly difficult to treat. Therapeutic approaches include conventional surgical resection, laser therapy, sclerotherapy and systemic drug therapies. PMID:26820157

  10. Acquired pulmonary arteriovenous malformation secondary to hydatid cyst operation.

    PubMed

    Gezer, S; Turut, H; Oz, G; Demirag, F; Tastepe, I

    2007-10-01

    Pulmonary arteriovenous malformations are abnormal communications between pulmonary arteries and pulmonary veins. The majority of the cases are congenital in origin, and acquired pulmonary arteriovenous malformations are very rare. We present a case here, which - to the best of our knowledge - is the first acquired pulmonary arteriovenous malformation secondary to a hydatid cyst operation in the literature, and we discuss the etiology, clinical presentation, diagnostic modalities and treatment of acquired pulmonary arteriovenous malformations. PMID:17902072

  11. Numerical simulation of the human ear and the dynamic analysis of the middle ear sound transmission

    NASA Astrophysics Data System (ADS)

    Yao, W.; Ma, J.; Huang, X.

    2013-06-01

    Based on the clinical CT of normal right ear, a 3-D ?nite element (FE) model of the human ear consisting of the external ear canal, middle ear(tympanic membrane, ossicular chain, ligaments, tendons), and inner ear (including semicircular canals, vestibular, spiral cochlear)was constructed in this paper. The complicated structures and inner boundary conditions of middle ear were described in this model. Model analysis and acoustic-structure-?uid coupled dynamic frequency response analysis were conducted on the model. The validity of this model was confirmed by comparing the results with published experimental data. The amplitudes and velocities of tympanic membrane and stapes footplate, sound pressure gain across the middle ear, and the cochlear input impedance were derived. Besides, it was concluded that the ear canal can amplify the sound signal in low frequencies.The modes of vibration of middle ear auditory ossicles, oval window and round window have been analysed. This model can well simulate the acoustic behavior with the interaction of external ear, middle ear and inner ear, which can supply more valuable theoretical support for development and improvement of hearing-aid and artificial inner ear.

  12. Prominent ears: Anthropometric study of the external ear of primary school children of Harare, Zimbabwe

    PubMed Central

    Muteweye, Wilfred; Muguti, Godfrey I.

    2015-01-01

    Background Prominent ear is the most common congenital ear deformity affecting 5% of children in the Western world and has profound psychosocial effects on the bearer. It is important to know the prevalence in the local population to have a better appreciation of the local burden of the abnormality as well as to know the parameters of ear morphology locally. These parameters can be useful in the diagnosis and evaluation of ear anomalies and may help reconstructive surgeons in reproducing an anatomically correct ear of an African/Zimbabwean child. Objectives To evaluate the frequency of prominent ears in black school going children in Zimbabwe and to establish morphometric properties of the ear. Design Prospective observational, cross sectional study. Setting Three Primary schools in Harare. Two in a high density area and one in a low density area. Materials and methods Three Primary schools in Harare were selected at random. The following measurements were taken: ear lengths, ear projection and face height using a sliding caliper. Three hundred and five healthy pupils of the age range 9–13 years of both sexes were included in the study, whilst children with congenital anomalies, ear tumours and history of ear trauma were excluded. Results The mean ear height across the cohort was 56.95 ± 5.00 (right ear) and 56.86 ± 4.92 (left ear). Ear projection was 19.52 ± 2.14 (right ear) and 19.59 ± 2.09 (left ear). Gender related differences were noted. Mean ear height was significantly higher in males (p-value = 0.000). Ear projection was higher in males compared to females. A total of 6.89% had prominent ears. Among males, 7.69% had prominent ears whilst 6.17% of females had prominent ears. Conclusion The prevalence of prominent ear among black African children in the studied population is comparable to that of Caucasians. The study provides a set of biometric data of auricular dimensions for normal black African children aged 9–13 years. PMID:26468372

  13. Coexistent arteriovenous malformation and hippocampal sclerosis.

    PubMed

    Prayson, Richard A; O'Toole, Elizabeth E

    2016-06-01

    Cavernous angiomas or cavernomas have been occasionally described in patients presenting with medically intractable epilepsy. Reports of cavernomas associated with a second pathology potentially causative of seizures have rarely been documented; most commonly, the second pathology is focal cortical dysplasia or less frequently, hippocampal sclerosis. To our knowledge, cases of arteriovenous malformation arising in this clinical setting and associated with hippocampal sclerosis have not been previously described. We report a 56-year-old woman who initially presented at age 24years with staring spells. Imaging studies revealed an arteriovenous malformation in the right parietal lobe. At age 51years, she represented with signs and symptoms related to a hemorrhage from the malformation. The patient underwent Gamma Knife radiosurgery (Elekta AB, Stockholm, Sweden) of the lesion. She subsequently developed seizures, refractory to medical management. MRI studies showed atrophy in the right hippocampus. She underwent resection of the right parietal lobe and hippocampus. Histopathologic examination of the right parietal lesion revealed an arteriovenous malformation marked by focally prominent vascular sclerosis, calcification and adjacent hemosiderin deposition. The hippocampus was marked by prominent neuronal loss and gliosis in the CA1 region, consistent with CA1 sclerosis or hippocampal sclerosis International League Against Epilepsy type 2. PMID:26899356

  14. Genetic basis of congenital cardiovascular malformations

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Cardiovascular malformations are a singularly important class of birth defects and due to dramatic improvements in medical and surgical care, there are now large numbers of adult survivors. The etiologies are complex, but there is strong evidence that genetic factors play a crucial role. Over the la...

  15. Genetics Home Reference: cerebral cavernous malformation

    MedlinePlus

    ... R, Awad IA, Ginsberg MH. Cerebral cavernous malformations proteins inhibit Rho kinase to stabilize vascular integrity. J Exp Med. 2010 Apr 12;207(4):881-96. doi: 10.1084/jem.20091258. Epub 2010 Mar 22. Citation on ... CCM1 and CCM2 protein interactions in cell signaling: implications for cerebral cavernous ...

  16. Congenital vascular malformations in scintigraphic evaluation

    PubMed Central

    Pilecki, Stanisław; Gierach, Marcin; Gierach, Joanna; Świętaszczyk, Cyprian; Junik, Roman; Lasek, Władysław

    2014-01-01

    Summary Background Congenital vascular malformations are tumour-like, non-neoplastic lesions caused by disorders of vascular tissue morphogenesis. They are characterised by a normal cell replacement cycle throughout all growth phases and do not undergo spontaneous involution. Here we present a scintigraphic image of familial congenital vascular malformations in two sisters. Material/Methods A 17-years-old young woman with a history of multiple hospitalisations for foci of vascular anomalies appearing progressively in the upper and lower right limbs, chest wall and spleen. A Parkes Weber syndrome was diagnosed based on the clinical picture. Due to the occurrence of new foci of malformations, a whole-body scintigraphic examination was performed. A 12-years-old girl reported a lump in the right lower limb present for approximately 2 years, which was clinically identified as a vascular lesion in the area of calcaneus and talus. Phleboscintigraphy visualized normal radiomarker outflow from the feet via the deep venous system, also observed in the superficial venous system once the tourniquets were released. In static and whole-body examinations vascular malformations were visualised in the area of the medial cuneiform, navicular and talus bones of the left foot, as well as in the projection of right calcaneus and above the right talocrural joint. Conclusions People with undiagnosed disorders related to the presence of vascular malformations should undergo periodic follow-up to identify lesions that may be the cause of potentially serious complications and to assess the results of treatment. Presented scintigraphic methods may be used for both diagnosing and monitoring of disease progression. PMID:24567769

  17. Listening to Nature's orchestra with peculiar ears

    NASA Astrophysics Data System (ADS)

    Yager, David D.

    2003-04-01

    Insects use hearing for the crucial tasks of communicating with conspecifics and avoiding predators. Although all are based on the same acoustic principles, the diversity of insect ears is staggering and instructive. For instance, a South African grasshopper demonstrates that hearing conspecific calls is possible over distances 1 km with ears that do not have tympana. Actually, these creatures have six pairs of ears that play different roles in behavior. In numerical contrast, praying mantises have just a single ear in the ventral midline. The ear is very effective at detecting ultrasonic bat cries. However, the bioacoustics of sound transduction by two tympana facing each other in a deep, narrow slit is a puzzle. Tachinid flies demonstrate that directional hearing at 5 kHz is possible with a pair of ears fused together to give a total size of 1 mm. The ears are under the fly's chin. Hawk moths have their ears built into their mouthparts and the tympanum is more like a hollow ball than the usual membrane. As an apt last example, cicada ears are actually part of the orchestra: their tympana function both in sound reception and sound production.

  18. An Effective 3D Ear Acquisition System

    PubMed Central

    Liu, Yahui; Lu, Guangming; Zhang, David

    2015-01-01

    The human ear is a new feature in biometrics that has several merits over the more common face, fingerprint and iris biometrics. It can be easily captured from a distance without a fully cooperative subject. Also, the ear has a relatively stable structure that does not change much with the age and facial expressions. In this paper, we present a novel method of 3D ear acquisition system by using triangulation imaging principle, and the experiment results show that this design is efficient and can be used for ear recognition. PMID:26061553

  19. An Effective 3D Ear Acquisition System.

    PubMed

    Liu, Yahui; Lu, Guangming; Zhang, David

    2015-01-01

    The human ear is a new feature in biometrics that has several merits over the more common face, fingerprint and iris biometrics. It can be easily captured from a distance without a fully cooperative subject. Also, the ear has a relatively stable structure that does not change much with the age and facial expressions. In this paper, we present a novel method of 3D ear acquisition system by using triangulation imaging principle, and the experiment results show that this design is efficient and can be used for ear recognition. PMID:26061553

  20. [Clinical evaluation of congenital cholesteatoma of the middle ear].

    PubMed

    Kikuchi, Masahiro; Yamamoto, Etsuo; Shinohara, Shogo; Shiomi, Yousaku; Fujiwara, Keizo; Shiomi, Yoshiko; Watanabe, Futoshi; Tanabe, Makito

    2003-08-01

    We conducted a retrospective study to identify the clinical features and surgical observations of congenital cholesteatoma. Sixty patients were diagnosed and underwent surgery for congenital cholesteatoma between April 1987 and May 2002. All diagnoses were made on the basis of two operative findings: 1. the tympanic membrane manifested neither retraction, perforation, nor granulation. 2. the tympanic membrane was not continuous with the cholesteatoma. In this series, congenital cholesteatoma accounted for 7% of all cholesteatomas (853 ears). The patient age ranged from 2 to 48 years. The male to female ratio was 4:1. Seventeen patients had multiple cholesteatoma. Fifty-three patients exhibited closed-type cholesteatomas, while the remaining 7 patients had open-type cholesteatomas that had formed as a flat surface of the epidermis. Patients with open-type cholesteatomas presented with a much more pronounced conductive hearing loss and ossicular erosion or malformation. Twenty-two patients with relatively small cholesteatomas were analyzed to estimate the origin of their cholesteatomas. Of the 22 patients, 13 had anterior superior quadrant (ASQ-type) and 9 had posterior superior quadrant (PSQ-type) cholesteatomas. The mean age at the time of detection was older in the PSQ-type group than in the ASQ-type group and the frequency of ossicular erosion or malformation was more prominent in the PSQ-type group than in the ASQ-type group. The primary site of origin was thought to be the portion between the tympanic ostium of the auditory canal and the semicanal for tensor tympani in the ASQ-type group and near the incudostapedial joint in the PSQ-type group. A planned staged procedure was performed in 29 patients, 15 patients (52%) had residual lesions situated mostly on the oval window, the round window, an exposed facial nerve or an exposed lateral semicircular canal. The frequency of residual lesions in patients who presented with extended, multiple cholesteatoma and

  1. Genetic animal models of malformations of cortical development and epilepsy.

    PubMed

    Wong, Michael; Roper, Steven N

    2016-02-15

    Malformations of cortical development constitute a variety of pathological brain abnormalities that commonly cause severe, medically-refractory epilepsy, including focal lesions, such as focal cortical dysplasia, heterotopias, and tubers of tuberous sclerosis complex, and diffuse malformations, such as lissencephaly. Although some cortical malformations result from environmental insults during cortical development in utero, genetic factors are increasingly recognized as primary pathogenic factors across the entire spectrum of malformations. Genes implicated in causing different cortical malformations are involved in a variety of physiological functions, but many are focused on regulation of cell proliferation, differentiation, and neuronal migration. Advances in molecular genetic methods have allowed the engineering of increasingly sophisticated animal models of cortical malformations and associated epilepsy. These animal models have identified some common mechanistic themes shared by a number of different cortical malformations, but also revealed the diversity and complexity of cellular and molecular mechanisms that lead to the development of the pathological lesions and resulting epileptogenesis. PMID:25911067

  2. Growth retardation, dysmorphic facies and minor malformations following massive exposure to phenobarbitone in utero.

    PubMed

    Seip, M

    1976-09-01

    A syndrome of facial dysmorphism, pre- and postnatal growth deficiency, developmental delay and minor malformations is described in two siblings. The facial anomalies consist of short nose with low nasal bridge, hypertelorism, epicanthic folds, ptosis of eyelid (patient 2), lowset ears, wide mouth with protruding lips and relative prognathism. Patient 2 in addition had a cleft soft palate and a hypoplastic phalanx of his fifth fingers. Both siblings were exposed to extraordinary high levels of phenobarbitone (5.0-8.6 mg/100 ml) in utero. The same clinical picture has been reported by others following use of phenytoin in pregnancy, and the term "fetal hydantoin syndrome" has been proposed. Since the syndrome seems to occur both following exposure to phenytoin and to phenobarbital this term should probably be avoided. This interesting coincidence indicates that the drugs may have a similar mechanism of action on the development of the fetus. PMID:822687

  3. Cleft Lip and Palate Associated with Other Malformations in a Neotropical Primate (Saimiri ustus)

    PubMed Central

    Goldschmidt, Beatriz; Lopes, Claudia AA; Moura, Marina; Nogueira, Denise M; Gonçalves, Miguel AB; Fasano, Daniele M; Andrade, Marcia CR; Nascimento, Laine WF; Marinho, Antonio M

    2010-01-01

    Cleft lip (with or without cleft palate) has been documented in several species of nonhuman primates, which in general are susceptible at similar doses and stages of gestation to the same teratogens as humans. Cleft lip can be unilateral or bilateral, isolated, syndromic, familial, or genetic. Here we report the first case of syndromic cleft lip and palate in a male bare-eared squirrel monkey (Saimiri ustus). Associated with the orofacial clefts, the monkey manifested absence of bones, malformation of vertebrae L3, only 4 fingers in each hand, and shortening of tendons leading to inflection of the hands and fingers. Previous reports describing cleft lip and palate in other squirrel monkeys (Saimiri sciureus) in other breeding units have suggested consanguineous mating as a possible cause. Although the etiology in the case we present is unknown, we discuss factors associated with orofacial clefts in humans and various nonhuman primates. PMID:20587169

  4. RASA1 analysis guides management in a family with capillary malformation-arteriovenous malformation

    PubMed Central

    Flore, Leigh Anne; Leon, Eyby; Maher, Tom A.; Milunsky, Jeff M.

    2012-01-01

    Capillary malformation-arteriovenous malformation (CM-AVM; MIM 60354) is an autosomal dominant disorder characterized by multifocal cutaneous capillary malformations, often in association with fast-flow vascular lesions, which may be cutaneous, subcutaneous, intramuscular, intraosseus, or cerebral arteriovenous malformations or arteriovenous fistulas. CM-AVM results from heterozygous mutations in the RASA1 gene. Capillary malformations of the skin are common, and clinical examination alone may not be able to definitively diagnose-or exclude- CM-AVM. We report a family in which the proband was initially referred for a genetic evaluation in the neonatal period because of the presence of a cardiac murmur and minor dysmorphic features. Both he and his mother were noted to have multiple capillary malformations on the face, head, and extremities. Echocardiography revealed dilated head and neck vessels and magnetic resonance imaging and angiography of the brain revealed a large infratentorial arteriovenous fistula, for which he has had two embolization procedures. RASA1 sequence analysis revealed a heterozygous mutation, confirming his diagnosis of CM-AVM. We established targeted mutation analysis for the proband's mother and sister, the latter of whom is a healthy 3-year-old whose only cutaneous finding is a facial capillary malformation. This revealed that the proband's mother is also heterozygous for the RASA1 mutation, but his sister is negative. Consequently, his mother will undergo magnetic resonance imaging and angiography screening for intracranial and spinal fast-flow lesions, while his sister will require no imaging or serial evaluations. Targeted mutation analysis has been offered to additional maternal family members. This case illustrates the benefit of molecular testing in diagnosis and making screening recommendations for families with CM-AVM.

  5. Ear canal hyperostosis--surfer's ear. An improved surgical technique.

    PubMed

    Seftel, D M

    1977-01-01

    The increased populatiry of surfing has produced a marked augmentation in the incidence of ear canal exostosis. However, when it becomes moderately severe, I prefer to call it "hyperostosis." Exposure to cold ocean water for many years can be an important etiologic factor in hyperostosis. There is a serious risk, and a high incidence of tympanic membrane perforations during the removal of large external canal hyperostosis. This injury can be prevented by placing a sheet of Silastic against the tympanic membrane beforehand. I describe the method. Serious degrees of hyperostosis, causing transient hearing loss and otitis externa, are increasingly common in coastal towns, where cold-water surfing is a popular year-around sport. PMID:831701

  6. Playing by Ear: Foundation or Frill?

    ERIC Educational Resources Information Center

    Woody, Robert H.

    2012-01-01

    Many people divide musicians into two types: those who can read music and those who play by ear. Formal music education tends to place great emphasis on producing musically literate performers but devotes much less attention to teaching students to make music without notation. Some would suggest that playing by ear is a specialized skill that is…

  7. Is Attention Shared Between the Ears?1

    PubMed Central

    Shiffrin, Richard M.; Pisoni, David B.; Castaneda-Mendez, Kicab

    2012-01-01

    This study tests the locus of attention during selective listening for speech-like stimuli. Can processing be differentially allocated to the two ears? Two conditions were used. The simultaneous condition involved one of four randomly chosen stop-consonants being presented to one of the ears chosen at random. The sequential condition involved two intervals; in the first S listened to the right ear; in the second S listened to the left ear. One of the four consonants was presented to an attended ear during one of these intervals. Experiment I used no distracting stimuli. Experiment II utilized a distracting consonant not confusable with any of the four target consonants. This distractor was always presented to any ear not containing a target. In both experiments, simultaneous and sequential performance were essentially identical, despite the need for attention sharing between the two ears during the simultaneous condition. We conclude that selective attention does not occur during perceptual processing of speech sounds presented to the two ears. We suggest that attentive effects arise in short-term memory following processing. PMID:23226838

  8. 21 CFR 878.3590 - Ear prosthesis.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... 21 Food and Drugs 8 2011-04-01 2011-04-01 false Ear prosthesis. 878.3590 Section 878.3590 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN SERVICES (CONTINUED) MEDICAL DEVICES GENERAL AND PLASTIC SURGERY DEVICES Prosthetic Devices § 878.3590 Ear prosthesis. (a) Identification....

  9. 21 CFR 878.3590 - Ear prosthesis.

    Code of Federal Regulations, 2014 CFR

    2014-04-01

    ... 21 Food and Drugs 8 2014-04-01 2014-04-01 false Ear prosthesis. 878.3590 Section 878.3590 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN SERVICES (CONTINUED) MEDICAL DEVICES GENERAL AND PLASTIC SURGERY DEVICES Prosthetic Devices § 878.3590 Ear prosthesis. (a) Identification....

  10. Cutaneous lesions of the external ear

    PubMed Central

    Sand, Michael; Sand, Daniel; Brors, Dominik; Altmeyer, Peter; Mann, Benno; Bechara, Falk G

    2008-01-01

    Skin diseases on the external aspect of the ear are seen in a variety of medical disciplines. Dermatologists, othorhinolaryngologists, general practitioners, general and plastic surgeons are regularly consulted regarding cutaneous lesions on the ear. This article will focus on those diseases wherefore surgery or laser therapy is considered as a possible treatment option or which are potentially subject to surgical evaluation. PMID:18261212

  11. INNER EAR EMBRYOGENESIS: GENETIC AND ENVIRONMENTAL DETERMINANTS

    EPA Science Inventory

    The anatomy and developmental molecular genetics of the inner ear from establishment of the otic placode to formation of the definitive cochlea and vestibular apparatus will be reviewed and the complex 3-D structural changes that shape the developing inner ear will be illustrated...

  12. GI-Associated Hemangiomas and Vascular Malformations

    PubMed Central

    Yoo, Stephen

    2011-01-01

    Hemangiomas and vascular malformations of the gastrointestinal tract, rare clinical entities, present as overt or occult bleeding. They can be distributed throughout the intestinal digestive system, or present as a singular cavernous hemangioma or malformation, which is often located in the rectosigmoid region. Misdiagnosis is common despite characteristic radiographic features such as radiolucent phleboliths on plain film imaging and a purplish nodule on endoscopy. Adjunctive imaging such as computed tomography and magnetic resonance imaging are suggested as there is potential for local invasion. Endorectal ultrasound with Doppler has also been found to be useful in some instances. Surgical resection is the mainstay of treatment, with an emphasis on sphincter preservation. Nonsurgical endoscopic treatment with banding and sclerotherapy has been reported with success, especially in instances where an extensive resection is not feasible. PMID:22942801

  13. Animal Models in Studying Cerebral Arteriovenous Malformation

    PubMed Central

    Xu, Ming; Xu, Hongzhi; Qin, Zhiyong

    2015-01-01

    Brain arteriovenous malformation (AVM) is an important cause of hemorrhagic stroke. The etiology is largely unknown and the therapeutics are controversial. A review of AVM-associated animal models may be helpful in order to understand the up-to-date knowledge and promote further research about the disease. We searched PubMed till December 31, 2014, with the term “arteriovenous malformation,” limiting results to animals and English language. Publications that described creations of AVM animal models or investigated AVM-related mechanisms and treatments using these models were reviewed. More than 100 articles fulfilling our inclusion criteria were identified, and from them eight different types of the original models were summarized. The backgrounds and procedures of these models, their applications, and research findings were demonstrated. Animal models are useful in studying the pathogenesis of AVM formation, growth, and rupture, as well as in developing and testing new treatments. Creations of preferable models are expected. PMID:26649296

  14. FTO variant associated with malformation syndrome.

    PubMed

    Rohena, Luis; Lawson, Michelle; Guzman, Edwin; Ganapathi, Mythily; Cho, Megan T; Haverfield, Eden; Anyane-Yeboa, Kwame

    2016-04-01

    Common FTO variants are associated with obesity. However, it has recently been shown that homozygous FTO c.947G>A variant, which predicts p.R316Q, and c.956C>T, which predicts p.S319F, are associated with a malformation syndrome inherited in an autosomal recessive pattern. We present a similar homozygous FTO c.965G>A variant that predicts p.R322Q, associated with a lethal malformation syndrome in a consanguineous Yemeni family. Functional studies showed that the p.R316Q, p.S219F, and p.R322Q variants render the FTO protein inactive. We further expand on the phenotype of homozygous FTO loss-of-function mutations to include eye abnormalities, gingival overgrowth, craniosynostosis, and cutaneous photosensitivity. PMID:26697951

  15. Statins and congenital malformations: cohort study

    PubMed Central

    Hernandez-Diaz, Sonia; Fischer, Michael A; Seely, Ellen W; Ecker, Jeffrey L; Franklin, Jessica M; Desai, Rishi J; Allen-Coleman, Cora; Mogun, Helen; Avorn, Jerry; Huybrechts, Krista F

    2015-01-01

    Objective To examine the teratogenic potential of statins. Design Cohort study. Setting United States. Participants A cohort of 886 996 completed pregnancies linked to liveborn infants of women enrolled in Medicaid from 2000 to 2007. Methods We examined the risk of major congenital malformations and organ specific malformations in offspring associated with maternal use of a statin in the first trimester. Propensity score based methods were used to control for potential confounders, including maternal demographic characteristics, obstetric and medical conditions, and use of other drugs. Results 1152 (0.13%) women used a statin during the first trimester. In unadjusted analyses, the prevalence of malformations in the offspring of these women was 6.34% compared with 3.55% in those of women who did not use a statin in the first trimester (relative risk 1.79, 95% confidence interval 1.43 to 2.23). Controlling for confounders, particularly pre-existing diabetes, accounted for this increase in risk (1.07, 0.85 to 1.37). There were also no statistically significant increases in any of the organ specific malformations assessed after accounting for confounders. Results were similar across a range of sensitivity analyses. Conclusions Our analysis did not find a significant teratogenic effect from maternal use of statins in the first trimester. However, these findings need to be replicated in other large studies, and the long term effects of in utero exposure to statins needs to be assessed, before use of statins in pregnancy can be considered safe. PMID:25784688

  16. Magnetic Resonance Imaging of Malformations of Midbrain-Hindbrain.

    PubMed

    Abdel Razek, Ahmed Abdel Khalek; Castillo, Mauricio

    2016-01-01

    We aim to review the magnetic resonance imaging appearance of malformations of midbrain and hindbrain. These can be classified as predominantly cerebellar malformations, combined cerebellar and brain stem malformations, and predominantly brain stem malformations. The diagnostic criteria for the majority of these morphological malformations are based on neuroimaging findings. The predominantly cerebellar malformations include predominantly vermian hypoplasia seen in Dandy-Walker malformation and rhombencephalosynapsis, global cerebellar hypoplasia reported in lissencephaly and microlissencephaly, and unilateral cerebellar hypoplasia seen in PHACES, vanishing cerebellum, and cerebellar cleft. Cerebellar dysplasias are seen in Chudley-McCullough syndrome, associated with LAMA1 mutations and GPR56 mutations; Lhermitte-Duclos disease; and focal cerebellar dysplasias. Cerebellar hyperplasias are seen in megalencephaly-related syndromes and hemimegalencephaly with ipsilateral cerebellomegaly. Cerebellar and brain stem malformations include tubulinopathies, Joubert syndrome, cobblestone malformations, pontocerebellar hypoplasias, and congenital disorders of glycosylation type Ia. Predominantly brain stem malformations include congenital innervation dysgenesis syndrome, pontine tegmental cap dysplasia, diencephalic-mesencephalic junction dysplasia, disconnection syndrome, and pontine clefts. PMID:26599961

  17. [Diabetic mother's newborn with Goldenhar syndrome and cerebral malformations. Case report].

    PubMed

    Kerckoff Villanueva, Hugo; Retamoza, Beatriz; Bautista, Armando

    2008-11-01

    Goldenhar syndrome, also known as oculo-auriculo-vertebral syndrome, is a rare illness with unknown etiology. It happens in 1 of 50,000 newborns and is characterized by first and second brachial arch changes, with variable grades of hemifacial hypoplasia. We report a clinical case of a 39-years-old woman with a BMI of 33, family history of diabetes mellitus decease, and two fetal losses with unknown etiology. We first met patient at 24 gestational weeks. Second level ultrasound findings were: fetus with tri-ventricular obstructive hydrocephalia, symmetrical macrocranium, and occipital encephalocele. As her capilar glycaemia level was 197 to 338 mg/dL, diagnosis was gestational diabetes. Patient was scheduled to cesarian section and we obtain a newborn with: 2,050 g of weight, 45 cm of height, 38 cm of cephalic diameter, 6/7 Apgar score, and 33 gestational weeks (Capurro). Obesity and 2-type diabetes are well-known fetal malformation etiologies, due to insulin resistance. Maternal hyperglycemia causes oxidative stress in embryo cells, it changes Pax3 gene path, and causes several chromosomopaties and malformations; main perinatal mortality etiology, among them, are neural tube alterations. All together enable to establish this Goldenhar diagnosis: palpebral coloboma, facial asymmetry, external ear, upper hemivertebra, and microphthalmy. PMID:19065822

  18. Neuroembryology and brain malformations: an overview.

    PubMed

    Sarnat, Harvey B; Flores-Sarnat, Laura

    2013-01-01

    Modern neuroembryology integrates descriptive morphogenesis with more recent insight into molecular genetic programing and data enabled by cell-specific tissue markers that further define histogenesis. Maturation of individual neurons involves the development of energy pumps to maintain membrane excitability, ion channels, and membrane receptors. Most malformations of the nervous system are best understood in the context of aberrations of normal developmental processes that result in abnormal structure and function. Early malformations usually are disorders of genetic expression along gradients of the three axes of the neural tube, defective segmentation, or mixed lineages of individual cells. Later disorders mainly involve cellular migrations, axonal pathfinding, synaptogenesis, and myelination. Advances in neuroimaging now enable the diagnosis of many malformations in utero, at birth, or in early infancy in the living patient by abnormal macroscopic form of the brain. These images are complimented by modern neuropathological methods that disclose microscopic, immunocytochemical, and subcellular details beyond the resolution of MRI. Correlations may be made of both normal and abnormal ontogenesis with clinical neurological and EEG maturation in the preterm or term neonate for a better understanding of perinatal neurological disease. Precision in terminology is a key to scientific communication. PMID:23622157

  19. Malformations of cortical development and epilepsy.

    PubMed

    Leventer, Richard J; Guerrini, Renzo; Dobyns, William B

    2008-01-01

    Malformations of cortical development (MCDs) are macroscopic or microscopic abnormalities of the cerebral cortex that arise as a consequence of an interruption to the normal steps of formation of the cortical plate. The human cortex develops its basic structure during the first two trimesters of pregnancy as a series of overlapping steps, beginning with proliferation and differentiation of neurons, which then migrate before finally organizing themselves in the developing cortex. Abnormalities at any of these stages, be they environmental or genetic in origin, may cause disruption of neuronal circuitry and predispose to a variety of clinical consequences, the most common of which is epileptic seizures. A large number of MCDs have now been described, each with characteristic pathological, clinical, and imaging features. The causes of many of these MCDs have been determined through the study of affected individuals, with many MCDs now established as being secondary to mutations in cortical development genes. This review will highlight the best-known of the human cortical malformations associated with epilepsy. The pathological, clinical, imaging, and etiologic features of each MCD will be summarized, with representative magnetic resonance imaging (MRI) images shown for each MCD. The malformations tuberous sclerosis, focal cortical dysplasia, hemimegalencephaly, classical lissencephaly, subcortical band heterotopia, periventricular nodular heterotopia, polymicrogyria, and schizencephaly will be presented. PMID:18472484

  20. Chiari I malformations: clinical and radiologic reappraisal.

    PubMed

    Elster, A D; Chen, M Y

    1992-05-01

    Clinical findings and magnetic resonance (MR) images in 68 patients with Chiari I malformations were retrospectively analyzed to identify those radiologic features that correlated best with clinical symptoms. A statistically significant (P = .03) female predominance of the malformation was observed, with a female: male ratio of approximately 3:2. Associated skeletal anomalies were seen in 24% of patients. Syringomyelia was detected in 40% of patients, most commonly between the C-4 and C-6 levels. Of the 25 patients who presented with spinal symptoms, 23 (92%) proved to have a syrinx at MR imaging. When the syrinx extended into the medulla (n = 3), however, brain stem symptoms predominated. Patients with objective brain stem or cerebellar signs had the largest mean tonsillar herniations. Patients with tonsillar herniations greater than 12 mm were invariably symptomatic, but approximately 30% of patients with tonsils herniating 5-10 mm below the foramen magnum were asymptomatic at MR imaging. "Incidental" Chiari I malformations are thus much more common than previously recognized, and careful clinical assessment remains the cornerstone for proper diagnosis and management. PMID:1561334

  1. Combined Lymphedema and Capillary Malformation of the Lower Extremity

    PubMed Central

    Maclellan, Reid A.; Chaudry, Gulraiz

    2016-01-01

    Background: Primary lymphedema and capillary malformation are independent vascular malformations that can cause overgrowth of the lower extremity. We report a series of patients who had both types of malformations affecting the same leg. The condition is unique but may be confused with other types of vascular malformation overgrowth conditions (eg, Klippel–Trenaunay and Parkes Weber). Methods: Our Vascular Anomalies Center and Lymphedema Program databases were searched for patients with both capillary malformation and lymphedema. Diagnosis of lymphedema–capillary malformation was made by history, physical examination, and imaging studies. Because lymphedema–capillary malformation has phenotypical overlap with other conditions, only patients who had imaging confirming their diagnosis were included in the analysis. Clinical and radiological features, morbidity, and treatment were recorded. Results: Eight patients (4 females and 4 males) had confirmed lymphedema–capillary malformation. Referring diagnosis was Klippel–Trenaunay syndrome (n = 4), diffuse capillary malformation with overgrowth (n = 3), or lymphatic malformation (n = 1). The condition was unilateral (n = 6) or bilateral (n = 2). Morbidity included infection (n = 6), difficulty fitting clothes (n = 6), bleeding or leaking vesicles (n = 5), leg length discrepancy (n = 4), and difficulty ambulating (n = 3). All patients were managed with compression regimens. Operative management was liposuction (n = 3), treatment of phlebectatic veins (n = 3), staged skin/subcutaneous excision (n = 1), and/or epiphysiodesis (n = 1). Conclusions: Lymphedema and capillary malformation can occur together in the same extremity. Both conditions independently cause limb overgrowth primarily because of subcutaneous adipose deposition. Compression garments and suction-assisted lipectomy can improve the condition. Lymphedema–capillary malformation should not be confused with other vascular malformation overgrowth

  2. Congenital malformations in experimental diabetic pregnancy: aetiology and antioxidative treatment. Minireview based on a doctoral thesis.

    PubMed

    Simán, M

    1997-01-01

    Diabetes mellitus in pregnancy causes congenital malformations in the offspring. The aim of this work was to characterize biochemical and morphologic anomalies in the conceptus of an animal model of diabetic pregnancy. In addition, a preventive treatment against diabetes-induced dysmorphogenesis was developed. Congenital cataract was often found in the offspring of diabetic rats. The fetal lenses had increased water accumulation, sorbitol concentration and aldose reductase activity compared to control lenses. The results suggest that the cataracts form via osmotic attraction of water due to sorbitol accumulation in the fetal lens. Another set of malformations, with possible neural crest cell origin, occurred frequently in offspring of diabetic rats. These included low set ears, micrognathia, hypoplasia of the thymus, thyroid and parathyroid glands, as well as anomalies of the heart and great vessels. Furthermore, diabetes caused intrauterine death and resorptions more frequently in the late part of gestation. When the pregnant diabetic rats were treated with the antioxidants butylated hydroxytoluene, vitamin E or vitamin C, the occurrence of gross malformations was reduced from approximately 25% to less than 8%, and late resorptions from 17% to 7%. This suggests that an abnormal handling of reactive oxygen species (ROS) is involved in diabetes-induced dysmorphogenesis in vivo. Indeed, an increased concentration of lipid peroxides, indicating damage caused by ROS, was found in fetuses of diabetes rats. In addition, embryos of diabetic rats had low concentrations of the antioxidant vitamin E compared to control embryos. These biochemical alterations were normalized by vitamin E treatment of the pregnant diabetic rats. The antioxidants are likely to have prevented ROS injury in the embryos of the diabetic rats, in particular in the neural crest cells, thereby normalizing embryonic development. These results provide a rationale for developing new anti

  3. Stapes malformations: the contribute of the endoscopy for diagnosis and surgery.

    PubMed

    Marchioni, Daniele; Soloperto, Davide; Villari, Domenico; Tatti, Maria Fatima; Colleselli, Elena; Genovese, Elisabetta; Presutti, Livio

    2016-07-01

    The aim of this study is to investigate the contribute of the endoscopic exclusive transcanalar approach for the management of stapes malformations. A retrospective chart review was made at our tertiary referral centers. 17 patients with stapes malformations underwent surgery with endoscopic exclusive transcanal approach. A complete audiological and radiological assessment before and after surgery was performed. 12/17 (70 %) underwent a surgical endoscopic correction, In case of fixed platina underwent five endoscopic stapedotomy and one endoscopic stapedectomy were performed. In case of mobile platina five endoscopic ossiculoplasties with partial ossiculoplasty replacement prosthesis were performed, 3 with autologous remodeling incus and 2 with malleus head remodeling. In 1 case, only an endoscopic stapes mobilization was made. In 5/17 (30 %), due to difficult anatomical findings an endoscopic explorative tympanotomy was finally performed. The mean preoperative air conduction (AC), bone conduction (BC) and air-bone gap (ABG) were, respectively, 60.7, 26.3 and 34.4 dB. The mean postoperative AC, BC and ABG were, respectively, 33.8, 26.5 and 7.3 dB, with a mean improvement of the ABG of 27.1 dB. Discharge from hospital was on the first post-surgery day. No relevant postoperative complications were noted. The median follow-up was 3.6 years (range 1-6). The endoscopic approach results very adequate for the diagnosis and treatment of stapes malformations, checking variations of the ossicles conformation and functioning and performing safe surgery, under direct control of middle ear structures. PMID:26253427

  4. Understanding fly-ear inspired directional microphones

    NASA Astrophysics Data System (ADS)

    Liu, Haijun; Zhang, Xuming; Yu, Miao

    2009-03-01

    In this article, the equivalent two-degree-of-freedom (2-DOF) model for the hypersensitive ear of fly Ormia ocharacea is revisited. It is found that in addition to the mechanical coupling between the ears, the key to the remarkable directional hearing ability of the fly is the proper contributions of the rocking mode and bending mode of the ear structure. This can serve as the basis for the development of fly-ear inspired directional microphones. New insights are also provided to establish the connection between the mechanics of the fly ear and the prior biological experiments, which reveals that the fly ear is a nature-designed optimal structure that might have evolved to best perform its localization task at 5 kHz. Based on this understanding, a new design of the fly-ear inspired directional microphone is presented and a corresponding normalized continuum mechanics model is derived. Parametric studies are carried out to study the influence of the identified non-dimensional parameters on the microphone performance. Directional microphones are developed to verify the understanding and concept. This study provides a theoretical guidance to develop miniature bio-inspired directional microphones, and can impact many fronts that require miniature directional microphones.

  5. Dandy-Walker Malformation Presenting with Psychological Manifestations.

    PubMed

    Rohanachandra, Yasodha Maheshi; Dahanayake, Dulangi Maneksha Amerasinghe; Wijetunge, Swarna

    2016-01-01

    Dandy-Walker malformation, which is a congenital malformation of the cerebellum, is documented in literature to be associated with psychotic symptoms, obsessive compulsive symptoms, mood symptoms, hyperactivity, and impulsive behavior. The pathogenesis of psychiatric symptoms in Dandy-Walker malformation is thought to be due to disruption of the corticocerebellar tracts, resulting in what is known as cerebellar cognitive affective syndrome. We present a case of Dandy-Walker malformation presenting with psychiatric symptoms. This case highlights the necessity to be aware of psychiatric manifestations of cerebellar disease as it has an impact on the diagnosis and treatment. PMID:27493822

  6. Dandy-Walker malformation in Ellis-van Creveld syndrome.

    PubMed

    Zangwill, K M; Boal, D K; Ladda, R L

    1988-09-01

    We report on 2 Old Order Amish patients with Ellis-van Creveld (EvC) syndrome and the Dandy-Walker malformation; a similar case is noted in the literature. Pedigree analysis of our patients documents extensive inbreeding in successive generations. Considering the rarity of EvC syndrome and Dandy-Walker malformation as isolated malformations, the appearance of both in our 2 patients plus the patient in the literature suggests that Dandy-Walker malformation may be a manifestation in the EvC syndrome. However, in this isolate the coincidental occurrence of 2 rare recessive traits cannot be excluded. PMID:3223493

  7. Neuro-ophthalmology of type 1 Chiari malformation

    PubMed Central

    Shaikh, Aasef G.; Ghasia, Fatema F.

    2016-01-01

    Chiari malformation is a congenital deformity leading to herniation of cerebellar tonsils. Headache is a typical symptom of this condition, but patients with Chiari malformation often present with double vision and vertigo. Examination of eye movements in such patients often reveals nystagmus and strabismus. Eye movement deficits in the context of typical symptomatic presentation are critical clinical markers for the diagnosis of Chiari malformation. We will review eye movement deficits that seen in patients with type 1 Chiari malformation. We will then discuss the underlying pathophysiology and therapeutic options for such deficits. PMID:26843890

  8. Malformations Among the X-Linked Intellectual Disability Syndromes

    PubMed Central

    Stevenson, Roger E.; Schwartz, Charles E.; Rogers, R. Curtis

    2013-01-01

    Malformations are significant contributions to childhood mortality and disability. Their co-occurrence with intellectual disability may compound the health burden, requiring additional evaluation and management measures. Overall, malformations of greater or lesser severity occur in at least some cases of almost half of the 153 XLID syndromes. Genitourinary abnormalities are most common, but tend to contribute little or no health burden and occur in only a minority of cases of a given XLID syndrome. Some malformations (e.g., lissencephaly, hydranencephaly, long bone deficiency, renal agenesis/dysplasia) are not amenable to medical or surgical intervention; others (e.g., hydrocephaly, facial clefting, cardiac malformations, hypospadias) may be substantially corrected. PMID:24166814

  9. Opercular malformations: clinical and MRI features in 11 children.

    PubMed

    Rolland, Y; Adamsbaum, C; Sellier, N; Robain, O; Ponsot, G; Kalifa, G

    1995-11-01

    Opercular malformations are rare and complex brain malformations for which only very fragmented neuropathological descriptions have been reported. They are related to an abnormal development of both sylvian fissure and frontoparietal operculum. We report a retrospective clinical and MRI study of 11 patients presenting with opercular malformations. A congenital pseudobulbar syndrome was observed in six cases, various motor disorders in seven cases, mental retardation in six cases and epilepsy in four cases. The purpose of this study is to evaluate the main features of opercular malformations in children and to try to characterise this entity on the basis of its clinical features and MRI pattern. PMID:8577527

  10. Dandy-Walker Malformation Presenting with Psychological Manifestations

    PubMed Central

    Dahanayake, Dulangi Maneksha Amerasinghe

    2016-01-01

    Dandy-Walker malformation, which is a congenital malformation of the cerebellum, is documented in literature to be associated with psychotic symptoms, obsessive compulsive symptoms, mood symptoms, hyperactivity, and impulsive behavior. The pathogenesis of psychiatric symptoms in Dandy-Walker malformation is thought to be due to disruption of the corticocerebellar tracts, resulting in what is known as cerebellar cognitive affective syndrome. We present a case of Dandy-Walker malformation presenting with psychiatric symptoms. This case highlights the necessity to be aware of psychiatric manifestations of cerebellar disease as it has an impact on the diagnosis and treatment. PMID:27493822

  11. Ear Infections in Autistic and Normal Children. Brief Report.

    ERIC Educational Resources Information Center

    Konstantareas, M. Mary; Homatidis, Soula

    1987-01-01

    Evaluation of the frequency of ear infections, ear tube drainage, and deafness for 51 autistic children (ages 2-18) indicated that autistic children had a greater incidence of ear infections than matched normal peers and lower functioning children had an earlier onset of ear infections than higher functioning autistic peers. (Author)

  12. 21 CFR 874.4140 - Ear, nose, and throat bur.

    Code of Federal Regulations, 2012 CFR

    2012-04-01

    ... 21 Food and Drugs 8 2012-04-01 2012-04-01 false Ear, nose, and throat bur. 874.4140 Section 874...) MEDICAL DEVICES EAR, NOSE, AND THROAT DEVICES Surgical Devices § 874.4140 Ear, nose, and throat bur. (a) Identification. An ear, nose, and throat bur is a device consisting of an interchangeable drill bit that...

  13. 21 CFR 874.3430 - Middle ear mold.

    Code of Federal Regulations, 2012 CFR

    2012-04-01

    ... 21 Food and Drugs 8 2012-04-01 2012-04-01 false Middle ear mold. 874.3430 Section 874.3430 Food... DEVICES EAR, NOSE, AND THROAT DEVICES Prosthetic Devices § 874.3430 Middle ear mold. (a) Identification. A middle ear mold is a preformed device that is intended to be implanted to reconstruct the middle...

  14. 21 CFR 874.4140 - Ear, nose, and throat bur.

    Code of Federal Regulations, 2013 CFR

    2013-04-01

    ... 21 Food and Drugs 8 2013-04-01 2013-04-01 false Ear, nose, and throat bur. 874.4140 Section 874...) MEDICAL DEVICES EAR, NOSE, AND THROAT DEVICES Surgical Devices § 874.4140 Ear, nose, and throat bur. (a) Identification. An ear, nose, and throat bur is a device consisting of an interchangeable drill bit that...

  15. 21 CFR 874.3430 - Middle ear mold.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... 21 Food and Drugs 8 2010-04-01 2010-04-01 false Middle ear mold. 874.3430 Section 874.3430 Food... DEVICES EAR, NOSE, AND THROAT DEVICES Prosthetic Devices § 874.3430 Middle ear mold. (a) Identification. A middle ear mold is a preformed device that is intended to be implanted to reconstruct the middle...

  16. 21 CFR 874.3430 - Middle ear mold.

    Code of Federal Regulations, 2014 CFR

    2014-04-01

    ... 21 Food and Drugs 8 2014-04-01 2014-04-01 false Middle ear mold. 874.3430 Section 874.3430 Food... DEVICES EAR, NOSE, AND THROAT DEVICES Prosthetic Devices § 874.3430 Middle ear mold. (a) Identification. A middle ear mold is a preformed device that is intended to be implanted to reconstruct the middle...

  17. 38 CFR 4.87 - Schedule of ratings-ear.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... 38 Pensions, Bonuses, and Veterans' Relief 1 2012-07-01 2012-07-01 false Schedule of ratings-ear...—ear. Diseases of the Ear Rating 6200Chronic suppurative otitis media, mastoiditis, or cholesteatoma... of the substance 10 6208Malignant neoplasm of the ear (other than skin only) 100 Note: A rating...

  18. 21 CFR 874.3430 - Middle ear mold.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... 21 Food and Drugs 8 2011-04-01 2011-04-01 false Middle ear mold. 874.3430 Section 874.3430 Food... DEVICES EAR, NOSE, AND THROAT DEVICES Prosthetic Devices § 874.3430 Middle ear mold. (a) Identification. A middle ear mold is a preformed device that is intended to be implanted to reconstruct the middle...

  19. 21 CFR 874.4140 - Ear, nose, and throat bur.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... 21 Food and Drugs 8 2011-04-01 2011-04-01 false Ear, nose, and throat bur. 874.4140 Section 874...) MEDICAL DEVICES EAR, NOSE, AND THROAT DEVICES Surgical Devices § 874.4140 Ear, nose, and throat bur. (a) Identification. An ear, nose, and throat bur is a device consisting of an interchangeable drill bit that...

  20. 21 CFR 874.4140 - Ear, nose, and throat bur.

    Code of Federal Regulations, 2014 CFR

    2014-04-01

    ... 21 Food and Drugs 8 2014-04-01 2014-04-01 false Ear, nose, and throat bur. 874.4140 Section 874...) MEDICAL DEVICES EAR, NOSE, AND THROAT DEVICES Surgical Devices § 874.4140 Ear, nose, and throat bur. (a) Identification. An ear, nose, and throat bur is a device consisting of an interchangeable drill bit that...

  1. 21 CFR 874.4140 - Ear, nose, and throat bur.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... 21 Food and Drugs 8 2010-04-01 2010-04-01 false Ear, nose, and throat bur. 874.4140 Section 874...) MEDICAL DEVICES EAR, NOSE, AND THROAT DEVICES Surgical Devices § 874.4140 Ear, nose, and throat bur. (a) Identification. An ear, nose, and throat bur is a device consisting of an interchangeable drill bit that...

  2. 21 CFR 874.3430 - Middle ear mold.

    Code of Federal Regulations, 2013 CFR

    2013-04-01

    ... 21 Food and Drugs 8 2013-04-01 2013-04-01 false Middle ear mold. 874.3430 Section 874.3430 Food... DEVICES EAR, NOSE, AND THROAT DEVICES Prosthetic Devices § 874.3430 Middle ear mold. (a) Identification. A middle ear mold is a preformed device that is intended to be implanted to reconstruct the middle...

  3. An analysis of the acoustic input impedance of the ear.

    PubMed

    Withnell, Robert H; Gowdy, Lauren E

    2013-10-01

    Ear canal acoustics was examined using a one-dimensional lossy transmission line with a distributed load impedance to model the ear. The acoustic input impedance of the ear was derived from sound pressure measurements in the ear canal of healthy human ears. A nonlinear least squares fit of the model to data generated estimates for ear canal radius, ear canal length, and quantified the resistance that would produce transmission losses. Derivation of ear canal radius has application to quantifying the impedance mismatch at the eardrum between the ear canal and the middle ear. The length of the ear canal was found, in general, to be longer than the length derived from the one-quarter wavelength standing wave frequency, consistent with the middle ear being mass-controlled at the standing wave frequency. Viscothermal losses in the ear canal, in some cases, may exceed that attributable to a smooth rigid wall. Resistance in the middle ear was found to contribute significantly to the total resistance. In effect, this analysis "reverse engineers" physical parameters of the ear from sound pressure measurements in the ear canal. PMID:23917695

  4. Malformations of the tooth root in humans.

    PubMed

    Luder, Hans U

    2015-01-01

    The most common root malformations in humans arise from either developmental disorders of the root alone or disorders of radicular development as part of a general tooth dysplasia. The aim of this review is to relate the characteristics of these root malformations to potentially disrupted processes involved in radicular morphogenesis. Radicular morphogenesis proceeds under the control of Hertwig's epithelial root sheath (HERS) which determines the number, length, and shape of the root, induces the formation of radicular dentin, and participates in the development of root cementum. Formation of HERS at the transition from crown to root development appears to be very insensitive to adverse effects, with the result that rootless teeth are extremely rare. In contrast, shortened roots as a consequence of impaired or prematurely halted apical growth of HERS constitute the most prevalent radicular dysplasia which occurs due to trauma and unknown reasons as well as in association with dentin disorders. While odontoblast differentiation inevitably stops when growth of HERS is arrested, it seems to be unaffected even in cases of severe dentin dysplasias such as regional odontodysplasia and dentin dysplasia type I. As a result radicular dentin formation is at least initiated and progresses for a limited time. The only condition affecting cementogenesis is hypophosphatasia which disrupts the formation of acellular cementum through an inhibition of mineralization. A process particularly susceptible to adverse effects appears to be the formation of the furcation in multirooted teeth. Impairment or disruption of this process entails taurodontism, single-rooted posterior teeth, and misshapen furcations. Thus, even though many characteristics of human root malformations can be related to disorders of specific processes involved in radicular morphogenesis, precise inferences as to the pathogenesis of these dysplasias are hampered by the still limited knowledge on root formation

  5. Malformations of the tooth root in humans

    PubMed Central

    Luder, Hans U.

    2015-01-01

    The most common root malformations in humans arise from either developmental disorders of the root alone or disorders of radicular development as part of a general tooth dysplasia. The aim of this review is to relate the characteristics of these root malformations to potentially disrupted processes involved in radicular morphogenesis. Radicular morphogenesis proceeds under the control of Hertwig's epithelial root sheath (HERS) which determines the number, length, and shape of the root, induces the formation of radicular dentin, and participates in the development of root cementum. Formation of HERS at the transition from crown to root development appears to be very insensitive to adverse effects, with the result that rootless teeth are extremely rare. In contrast, shortened roots as a consequence of impaired or prematurely halted apical growth of HERS constitute the most prevalent radicular dysplasia which occurs due to trauma and unknown reasons as well as in association with dentin disorders. While odontoblast differentiation inevitably stops when growth of HERS is arrested, it seems to be unaffected even in cases of severe dentin dysplasias such as regional odontodysplasia and dentin dysplasia type I. As a result radicular dentin formation is at least initiated and progresses for a limited time. The only condition affecting cementogenesis is hypophosphatasia which disrupts the formation of acellular cementum through an inhibition of mineralization. A process particularly susceptible to adverse effects appears to be the formation of the furcation in multirooted teeth. Impairment or disruption of this process entails taurodontism, single-rooted posterior teeth, and misshapen furcations. Thus, even though many characteristics of human root malformations can be related to disorders of specific processes involved in radicular morphogenesis, precise inferences as to the pathogenesis of these dysplasias are hampered by the still limited knowledge on root formation

  6. Laser treatment of oral vascular malformations

    NASA Astrophysics Data System (ADS)

    Romeo, U.; Gaimari, G.; Mohsen, M.; Tenore, G.; Palaia, G.

    2014-01-01

    Oral Vascular Malformations (OVM) are congenital anomalies characterized by morph-structural and/or functional changes of nature in severity and extension. OVM can affect any type of vessels arterial, venous or lymphatic and any capillary or anatomical. They are divided into two categories: low and high flow. In this study were treated 40 patients with OVM with a range size from 2 mm to 44 mm; they were subjected to clinical examination supported by Colour-Doppler Ultrasound instrumental examination and only for doubt cases the Magnetic Resonance Imaging (MRI) was prescribed. Only low flow venous and capillary malformations were treated by GaAlAs laser (Wiser®, Lambda, Brindole,Italy, 980nm) and KTP laser (SmartLite®, DEKA, Florence, Italy, 532nm) with two different techniques: the Transmucosal Thermophotocoagulation (TMT) and the Intralesional Photocoagulation (ILP). These techniques permitted a good control of haemostasis, avoiding bleeding both during surgery and in the postoperative. It is obtained an excellent and good healing respectively in 10% and 60% of cases, a moderate and poor resolution respectively in 22.5% and 7.5% of cases. A clear diagnosis allowed the management of Venous malformations (VM) by laser devices with wavelengths highly absorbed in haemoglobin in safety and efficacy and according to the principles of minimal invasive surgery. The aim of this study was to verify if the laser is effective in the treatment of OVM for the purpose of the clinical findings and the postoperative course. The Authors concluded that the laser can be considered the "gold standard" for treating OVM.

  7. Middle Ear Adenoma: Case Report and Discussion

    PubMed Central

    Vrugt, B.; Huber, A. M.

    2014-01-01

    Introduction. Despite modern radiological workup, surgeons can still be surprised by intraoperative findings or by the pathologist's report. Materials & Methods. We describe the case of a 52-year-old male who was referred to our clinic with a single sided conductive hearing loss. He ultimately underwent middle ear exploration and excision of a middle ear tumour followed by second look and ossiculoplasty a year later. Results. Though preoperative CT and MRI scanning were suggestive of a congenital cholesteatoma, the pathologist's report diagnosed a middle ear adenoma. Discussion. Middle ear glandular tumors are extremely rare and, despite numerous histological techniques, continue to defy satisfactory classification. Most surgeons advocate surgical excision though evidence of the tumour's natural course and risk of recurrence is lacking. PMID:25045567

  8. Directional Sensitivity of the Human Ear.

    ERIC Educational Resources Information Center

    Pitt, John D.; Bazley, Martin

    1985-01-01

    Presents a classroom experiment that demonstrates the directional sensitivity of the human ear. Outlines the activity's procedures and provides a diagrammatical view of the experimental arrangement. Also included is an analysis of the expected results. (ML)

  9. Congenital malformation and maternal occupational exposure to glycol ethers. Occupational Exposure and Congenital Malformations Working Group.

    PubMed

    Cordier, S; Bergeret, A; Goujard, J; Ha, M C; Aymé, S; Bianchi, F; Calzolari, E; De Walle, H E; Knill-Jones, R; Candela, S; Dale, I; Dananché, B; de Vigan, C; Fevotte, J; Kiel, G; Mandereau, L

    1997-07-01

    Glycol ethers are found in a wide range of domestic and industrial products, many of which are used in women's work environments. Motivated by concern about their potential reproductive toxicity, we have evaluated the risk of congenital malformations related to glycol ether exposure during pregnancy as part of a multicenter case-control study, conducted in six regions in Europe. The study comprised 984 cases of major congenital malformations and 1,134 controls matched for place and date of birth. Interviews of the mothers provided information about occupation during pregnancy, sociodemographic variables, and other potential risk factors (medical history, tobacco, alcohol, drugs). A chemist specializing in glycol ethers evaluated exposure during pregnancy, using the job description given by the mother, without knowledge of case or control status. We classified malformations into 22 subgroups. The overall odds ratio (OR) of congenital malformation associated with glycol ether exposure was 1.44 [95% confidence interval (CI) = 1.10-1.90], after adjustment for several potential confounders. The association with exposure to glycol ethers appeared particularly strong in three subgroups: neural tube defects (OR = 1.94; 95% CI = 1.16-3.24), multiple anomalies (OR = 2.00; 95% CI = 1.24-3.23), and cleft lip (OR = 2.03; 95% CI = 1.11-3.73). In this last subgroup, risk, especially of an isolated defect, tended to increase with level of exposure. PMID:9209847

  10. [Early stage of a cloverleaf skull malformation].

    PubMed

    Fischer, G; Hori, A; Ulbrich, R; Rath, W

    1982-12-01

    Cloverleaf skull anomaly was diagnosed sonographically and in the fetogram, together with concomitant chondrodystrophy. This resulted in an indication for intentional abortion in the 29th week. Consequently, this rare form of skull monstrosity could be examined pathologico-anatomically for the first time in a very early stage of foetal development. Contrary to the widely held opinion that the reason for such hideous malformation is a hydrocephalus internus due to a deformation of the skull base, we found a practically negligible hydrocephalus, although the cloverleaf skull had already developed in a very marked manner. Hence, this case contradicts the generally adopted formal pathogenetic interpretation of cloverleaf skull monstrosity. PMID:7178767

  11. Oral vascular malformations: laser treatment and management

    NASA Astrophysics Data System (ADS)

    Romeo, U.; Rocchetti, F.; Gaimari, G.; Tenore, G.; Palaia, G.; Lo Giudice, G.

    2016-03-01

    Vascular malformations are a very heterogeneous group of circulatory system's diseases that can involve different kind of vessels: arterial, venous or lymphatic ones. Many treatments, such as conventional surgery, embolization, steroid therapy and laser therapy, are available for vascular lesions. The laser approach relies more therapeutic techniques: the transmucosal thermophotocoagulation, intralesional photocoagulation, the excisional biopsy. Today laser is demonstrated to be the gold standard technique to treat vascular lesions that allows a safe and efficient treatment and a lower post-operative healing time. The only disadvantage is the risk of carbonization that could be avoided by using the multiple-spot single pulsed wave technique.

  12. Pretreatment imaging of peripheral vascular malformations

    PubMed Central

    Johnson, Joshua B; Cogswell, Petrice M; McKusick, Michael A; Binkovitz, Larry A; Riederer, Stephen J; Young, Phillip M

    2015-01-01

    Peripheral vascular malformations (VMs) are complex and diverse vascular lesions which require individualized pretreatment planning. Pretreatment imaging using various modalities, especially magnetic resonance imaging and time-resolved magnetic resonance angiography, is a valuable tool for classifying peripheral VMs to allow proper diagnosis, demonstrate complete extent, identify the nidus, and distinguish between low-flow and high-flow dynamics that determines the treatment approach. We discuss pretreatment imaging findings in four patients with peripheral VMs and how diagnostic imaging helped guide management. PMID:25625123

  13. Spinal Arteriovenous Malformation Masquerating Zoster Sine Herpete

    PubMed Central

    Lee, Ji Young; Ok, Se Jin; Oh, Chang Keun; Park, Sun Kyung; Kim, Do Wan

    2013-01-01

    Zoster sine herpete (ZSH) is difficult to diagnosis during an acute period due to the absence of the characteristic zosteriform dermatomal rash; therefore, progression to postherpetic neuralgia is more common than typical zoster. In addition, misdiagnosis of other neuropathic pain as ZSH is common in clinical situations. Here, we report a case of spinal arteriovenous malformation that mimics ZSH. This is a rare condition; therefore, high clinical suspicion for a correct diagnosis and proper examination are not easy. However, early diagnosis and definitive treatment are essential to prevent neurologic deficit and mortality. PMID:23342212

  14. Role of Embolization for Cerebral Arteriovenous Malformations

    PubMed Central

    Ellis, Jason A.; Lavine, Sean D.

    2014-01-01

    Cerebral arteriovenous malformations (AVMs) are complex high-flow lesions that can result in devastating neurological injury when they hemorrhage. Embolization is a critical component in the management of many patients with cerebral AVMs. Embolization may be used as an independent curative therapy or more commonly in an adjuvant fashion prior to either micro- or radiosurgery. Although the treatment-related morbidity and mortality for AVMs—including that due to microsurgery, embolization, and radiosurgery—can be substantial, its natural history offers little solace. Fortunately, care by a multidisciplinary team experienced in the comprehensive management of AVMs can offer excellent results in most cases. PMID:25624978

  15. Toward postnatal reversal of ocular congenital malformations

    PubMed Central

    Sahel, José-Alain; Marazova, Katia

    2013-01-01

    Aniridia is a panocular disorder that severely affects vision in early life. Most cases are caused by dominantly inherited mutations or deletions of the PAX6 gene, which encodes a transcription factor that is essential for the development of the eye and the central nervous system. In this issue of the JCI, Gregory-Evans and colleagues demonstrate that early postnatal topical administration of an ataluren-based formulation reverses congenital malformations in the postnatal mouse eye, providing evidence that manipulation of PAX6 after birth may lead to corrective tissue remodeling. These findings offer hope that ataluren administration could be a therapeutic paradigm applicable to some major congenital eye defects. PMID:24355915

  16. Microlissencephaly: a heterogeneous malformation of cortical development.

    PubMed

    Barkovich, A J; Ferriero, D M; Barr, R M; Gressens, P; Dobyns, W B; Truwit, C L; Evrard, P

    1998-06-01

    We report the neonatal courses, early postnatal development, and neuroimaging findings of 17 patients with marked microcephaly and simplified cerebral gyral patterns, a condition that we call microlissencephaly. Retrospective analyses of the clinicoradiologic features of these patients allowed segregation of the patients into 5 distinct groups with varying outcomes. The apparent discreteness of these groups suggests multiple etiologies of this malformation, although there appears to be a strong genetic component with probable autosomal recessive inheritance. Utilizing the neonatal course and neuroradiologic features of these infants allows classification of specific subsets, which may be useful to predict outcome. PMID:9706619

  17. Chiari I malformation: classification and management.

    PubMed

    Bindal, A K; Dunsker, S B; Tew, J M

    1995-12-01

    Considerable debate exists about which surgical options are best for the management of the Chiari I malformation. We present a classification system for the Chiari I malformation that improves the prediction of outcome and guides the selection of surgical treatment. Twenty-seven adult patients with Chiari I malformations were grouped on the basis of the presence of signs and symptoms of brain stem compression, syringomyelia, or both. To objectively assess changes in clinical status postoperatively, a scale was developed to quantify the signs and symptoms, which were statistically analyzed by the paired t test. Five patients were asymptomatic and underwent no treatment. Ten patients had symptoms of brain stem compression without associated syringomyelia and underwent brain stem decompression, including anterior decompression in one patient with basilar invagination; all 10 patients had significant improvement at 4-year mean follow-up visits (P < 0.0001). In 12 patients with syringomyelia, 5 were symptomatic from syringomyelia only, 6 were symptomatic from both brain stem compression and syringomyelia, and 1 was symptomatic from brain stem compression only. The median length of symptoms before presentation was longer for patients with syringomyelia than for patients without (2 yr versus 9 mo; P < 0.025); the mean follow-up was 4 years. Surgical procedures included posterior brain stem decompression in 12 patients, plugging of the obex in 7, and placement of syringosubarachnoid shunts in 7, a syringopleural shunt in 1, and fourth ventricular stents in 2. In the 12 patients with syringomyelia, symptoms from brain stem compression dramatically improved with surgical decompression (P < 0.025), whereas symptoms from syringomyelia less dramatically improved or stabilized. The slight improvement or stabilization of syrinx symptoms represents a successful result, given the documented progressive nature of syringomyelia in this group. We conclude that surgical treatment for

  18. Predictions of middle-ear and passive cochlear mechanics using a finite element model of the pediatric ear.

    PubMed

    Wang, Xuelin; Keefe, Douglas H; Gan, Rong Z

    2016-04-01

    A finite element (FE) model was developed based on histological sections of a temporal bone of a 4-year-old child to simulate middle-ear and cochlear function in ears with normal hearing and otitis media. This pediatric model of the normal ear, consisting of an ear canal, middle ear, and spiral cochlea, was first validated with published energy absorbance (EA) measurements in young children with normal ears. The model was used to simulate EA in an ear with middle-ear effusion, whose results were compared to clinical EA measurements. The spiral cochlea component of the model was constructed under the assumption that the mechanics were passive. The FE model predicted middle-ear transfer functions between the ear canal and cochlea. Effects of ear structure and mechanical properties of soft tissues were compared in model predictions for the pediatric and adult ears. EA responses are predicted to differ between adult and pediatric ears due to differences in the stiffness and damping of soft tissues within the ear, and any residual geometrical differences between the adult ear and pediatric ear at age 4 years. The results have significance for predicting effects of otitis media in children. PMID:27106321

  19. Embryonic development and malformation of lymphatic vessels.

    PubMed

    Wilting, Jörg; Buttler, Kerstin; Rössler, Jochen; Norgall, Susanne; Schweigerer, Lothar; Weich, Herbert A; Papoutsi, Maria

    2007-01-01

    In the human, malformations of lymphatic vessels can be observed as lymphangiectasia, lymphangioma and lymphangiomatosis, with a prevalence of 1.2-2.8 per thousand. Their aetiology is unknown and a causal therapy does not exist. We investigated the origin of lymphatic endothelial cells (LECs) in avian and murine embryos, and compared the molecular profile of LECs from normal and malformed lymphatics of children. In avian embryos, Prox1+ lymphangioblasts are located in the confluence of the cranial and caudal cardinal veins, where the jugular lymph sac (JLS) forms. Cell lineage studies show that the JLS is of venous origin. In contrast, the lymphatics of the dermis are derived from mesenchymal lymphangioblasts located in the dermatomes, suggesting a dual origin of LECs in avian embryos. The same may hold true for murine embryos, where Lyve1+ LEC precursors are found in the cardinal veins, and in the mesenchyme. The mesenchymal cells express the pan-leukocyte marker CD45, indicating a cell type with lymphendothelial and leukocyte characteristics. In the human, such cells might give rise to Kaposi's sarcoma. Microarray analyses of LECs from lymphangiomas of children show a large number of regulated genes, such as VEGFR3. Our studies show that lymphvasculogenesis and lymphangiogenesis occur simultaneously in the embryo, and suggest a function for VEGFR3 in lymphangiomas. PMID:18300425

  20. Twin pregnancy in the congenital malformed uterus.

    PubMed

    Heinonen, Pentti K

    2016-07-01

    The frequency and outcome of twin pregnancies in women with uterine malformation were studied. The cohort comprised 13 (4.9%) women with twin pregnancy found among 263 women. They had 483 deliveries, 13 of them twins (2.7%; 95% CI 1.6-4.6%). Among 38 patients with unicornuate uterus 5 (6.8%) out of 74 deliveries were twins, 39 women with didelphic uterus 2 (3.2%) out of 62 deliveries and 147 women with septate or subseptate uterus 6 (2.3%) out of 264 deliveries were twins. The mean duration of gestation was 249 days (range 190-268 days), 5 (38%) out of 13 deliveries were premature, 25 out of 26 newborns were alive. Mean durations of gestation and mean weights of newborns did not differ when 7 cases with unicornuate or didelphic uterus were compared to 6 cases with complete or partial uterine septum. A congenital malformed uterus can bear twin pregnancy without severe complications apart from prematurity. PMID:26757792

  1. Genetic Basis of Congenital Cardiovascular Malformations

    PubMed Central

    Lalani, Seema R.; Belmont, John W.

    2014-01-01

    Cardiovascular malformations are a singularly important class of birth defects and, due to dramatic improvements in medical and surgical care, there are now large numbers of adult survivors. The etiologies are complex, but there is strong evidence that genetic factors play a crucial role. Over the last 15 years there has been enormous progress in the discovery of causative genes for syndromic heart malformations and in rare families with Mendelian forms. The rapid characterization of genomic disorders as major contributors to congenital heart defects is also notable. The genes identified encode many transcription factors, chromatin regulators, growth factors and signal transduction pathways– all unified by their required roles in normal cardiac development. Genome-wide sequencing of the coding regions promises to elucidate genetic causation in several disorders affecting cardiac development. Such comprehensive studies evaluating both common and rare variants would be essential in characterizing gene-gene interactions, as well as in understanding the gene-environment interactions that increase the susceptibility to congenital heart defects. PMID:24793338

  2. Unusual Presentation of Cerebral Cavernous Malformation.

    PubMed

    Kim, Won-Hyung; Lim, Dong-Jun; Choi, Jong-Il; Ha, Sung-Kon; Kim, Sang-Dae; Kim, Se-Hoon

    2015-09-01

    Cerebral cavernous malformations (CMs) are vascular malformations of the central nervous system, which can be detected in the absence of any clinical symptoms. Nodules and cysts with mixed signal intensity and a peripheral hemosiderin rim are considered brain magnetic resonance imaging (MRI) findings typical of CMs. A 48-year-old man was admitted to our hospital because of abnormal MRI findings without significant neurological symptoms. A cyst with an internal fluid-fluid level was found in the left basal ganglia on the initial brain MRI. We decided to observe the natural course of the asymptomatic lesion with serial MRI follow-up. On MRI at the 5-month follow-up, the cystic mass was enlarged and showed findings consistent with those of cystic CM. Surgical resection was performed and the pathological diagnosis was CM. Our experience suggests that the initial presentation of a CM can be a pure cyst and neurosurgeons should consider the likelihood of CMs in cases of cystic cerebral lesions with intracystic hemorrhage. PMID:26523262

  3. Unusual Presentation of Cerebral Cavernous Malformation

    PubMed Central

    Kim, Won-Hyung; Choi, Jong-Il; Ha, Sung-Kon; Kim, Sang-Dae; Kim, Se-Hoon

    2015-01-01

    Cerebral cavernous malformations (CMs) are vascular malformations of the central nervous system, which can be detected in the absence of any clinical symptoms. Nodules and cysts with mixed signal intensity and a peripheral hemosiderin rim are considered brain magnetic resonance imaging (MRI) findings typical of CMs. A 48-year-old man was admitted to our hospital because of abnormal MRI findings without significant neurological symptoms. A cyst with an internal fluid-fluid level was found in the left basal ganglia on the initial brain MRI. We decided to observe the natural course of the asymptomatic lesion with serial MRI follow-up. On MRI at the 5-month follow-up, the cystic mass was enlarged and showed findings consistent with those of cystic CM. Surgical resection was performed and the pathological diagnosis was CM. Our experience suggests that the initial presentation of a CM can be a pure cyst and neurosurgeons should consider the likelihood of CMs in cases of cystic cerebral lesions with intracystic hemorrhage. PMID:26523262

  4. Combined neuroradiological and neurosurgical treatment of intracerebral arteriovenous malformations.

    PubMed

    Adelt, D; Brückmann, H; Krenkel, W; Hacke, W; Zeumer, H

    1988-07-01

    Four patients with intracerebral vascular malformations underwent preoperative butylcyanoacrylate embolization via a calibrated leak catheter, in order to reduce the risks of surgery alone. In three cases the malformation was removed without causing neurological deficits. One patient died later from recurrent bleeding. PMID:3171616

  5. Histone deacetylase 1 is required for the development of the zebrafish inner ear

    PubMed Central

    He, Yingzi; Tang, Dongmei; Li, Wenyan; Chai, Renjie; Li, Huawei

    2016-01-01

    Histone deacetylase 1 (HDAC1) has been reported to be important for multiple aspects of normal embryonic development, but little is known about its function in the development of mechanosensory organs. Here, we first confirmed that HDAC1 is expressed in the developing otic vesicles of zebrafish by whole-mount in situ hybridization. Knockdown of HDAC1 using antisense morpholino oligonucleotides in zebrafish embryos induced smaller otic vesicles, abnormal otoliths, malformed or absent semicircular canals, and fewer sensory hair cells. HDAC1 loss of function also caused attenuated expression of a subset of key genes required for otic vesicle formation during development. Morpholino-mediated knockdown of HDAC1 resulted in decreased expression of members of the Fgf family in the otic vesicles, suggesting that HDAC1 is involved in the development of the inner ear through regulation of Fgf signaling pathways. Taken together, our results indicate that HDAC1 plays an important role in otic vesicle formation. PMID:26832938

  6. Congenital malformations in Japanese macaques (Macaca fuscata) at Takasakiyama.

    PubMed

    Sugiyama, Yukimaru; Kurita, Hiroyuki; Matsui, Takeshi; Kimoto, Satoshi; Egawa, Junko

    2014-04-01

    From the late 1960s to the early 1970s, many congenitally malformed infants were born into provisioned Japanese macaque troops. Although the exact cause of this problem was not determined, the occurrence of malformations decreased thereafter. We examined possible factors such as total population size, number of adult females, birth rate, and volume of provisioned food. Agrichemicals attached to provisioned food are suspected as the main cause, as other factors were found to have no influence. Many more malformations were seen in males compared with females, in feet compared with hands, and in the fourth compared with other digits. We confirmed that the frequency of congenital malformation was high during the 1960s through to the mid-1970s when increased levels of provisioned food were given and that the incidence of congenital malformations was also elevated among wild macaques during this time. PMID:24474604

  7. Comparison of ear tattoo, ear notching and microtattoo in rats undergoing cardiovascular telemetry.

    PubMed

    Kasanen, I H E; Voipio, H-M; Leskinen, H; Luodonpää, M; Nevalainen, T O

    2011-07-01

    Individual and permanent identification of experimental animals is a common and often essential research practice. There is little information available on the short-term effects of these procedures on the animals. In this study, seven rats were implanted with telemetric devices. The effects of three different identification methods (ear tattoo, ear notching and microtattoo) were compared. Cardiovascular data were collected for 24 h after the procedures. Time periods of 0-1, 1-4, 4-16 h (dark) and 16-24 h after the procedure were analysed separately. The most pronounced differences in measured parameters were observed during the first hour after the procedures were performed. Mean arterial pressure (MAP) was significantly higher (P < 0.012) following the ear tattoo than the microtattoo procedure by a difference of approximately 5 mmHg. Heart rate (HR) was significantly elevated (P < 0.001) after ear tattoo compared with both ear notching (Δ = 31 beats per minute [bpm]) and microtattoo (Δ = 44 bpm). During the 1-4 h period and the following dark period, the MAP was highest in the ear notching group, but no differences were observed in the HRs. During the following dark period (4-16 h) and the next day (16-24 h) differences in MAP and HR were minor. In conclusion, microtattoo appears to cause the mildest changes in HR and blood pressure. Based on these results, ear tattoo and ear notching should be replaced by microtattoo whenever possible. PMID:21504993

  8. Structure and function of the mammalian middle ear. I: Large middle ears in small desert mammals.

    PubMed

    Mason, Matthew J

    2016-02-01

    Many species of small desert mammals are known to have expanded auditory bullae. The ears of gerbils and heteromyids have been well described, but much less is known about the middle ear anatomy of other desert mammals. In this study, the middle ears of three gerbils (Meriones, Desmodillus and Gerbillurus), two jerboas (Jaculus) and two sengis (elephant-shrews: Macroscelides and Elephantulus) were examined and compared, using micro-computed tomography and light microscopy. Middle ear cavity expansion has occurred in members of all three groups, apparently in association with an essentially 'freely mobile' ossicular morphology and the development of bony tubes for the middle ear arteries. Cavity expansion can occur in different ways, resulting in different subcavity patterns even between different species of gerbils. Having enlarged middle ear cavities aids low-frequency audition, and several adaptive advantages of low-frequency hearing to small desert mammals have been proposed. However, while Macroscelides was found here to have middle ear cavities so large that together they exceed brain volume, the bullae of Elephantulus are considerably smaller. Why middle ear cavities are enlarged in some desert species but not others remains unclear, but it may relate to microhabitat. PMID:26104342

  9. Infrared tympanic temperature and ear canal morphology.

    PubMed

    Daanen, H A M

    2006-01-01

    Several publications indicate that the infrared tympanic temperature (IRTT) underestimates the core temperature of the body when the ear canal is long, curvy and narrow. In order to quantify these observations, a study was performed in 10 subjects. The IRTT was determined and compared to the oesophageal temperature (Tes), taken as the reference for core temperature. Also, the oral and rectal temperatures were monitored. A three-dimensional print of the ear canal was made to determine the ear canal morphology. The core temperature of the subjects was increased by at least 1 degrees C during the experiment in order to investigate the dynamics of the core temperature assessment. Two devices were used to determine the IRTT: the Braun Thermoscan PRO 1 and the predecessor of the Braun IRT3020 (code name IRT3000P). Both IRTT-devices underestimated the core temperature, as measured by Tes, by 0.38 degrees C on average. The difference DeltaT between IRTT and Tes was related to ear canal morphology. The circumference of the ear canal at the distal bend in the ear canal and the visibility of the tympanum were the most important parameters. About 22% of the variance in DeltaT was explained by ear canal morphology for the steady state resting period. Wide ear canals and good visibility of the tympanic membrane were related to a smaller DeltaT. A good visibility of the tympanic membrane was generally found in the absence of cerumen. The IRT3000P showed better results than the PRO 1 (DeltaT: -0.31 +/- 0.27 degrees C and -0.44 +/- 0.30 degrees C respectively). Also, the IRT3000P was less dependent on ear canal morphology. The dynamic response of the measured core temperatures was determined by the decrease or rise in core temperature after the heating period was ended. The oesophageal temperature dropped by 0.22 degrees C. The IRTT and oral temperature showed an identical increase of 0.19 degrees C. The slow reacting rectal temperature had an after rise of 0.49 degrees C. PMID

  10. Ear Acupuncture in European Traditional Medicine

    PubMed Central

    Firenzuoli, Fabio

    2007-01-01

    Auricular acupuncture is a diagnostic and treatment system based on normalizing the body's dysfunction through stimulation of definite points on the ear. Rudimentary forms of acupuncture which probably arose during the Stone Age have survived in many parts of the world right down to present day. It was used in the ancient Egypt, Rome, Greece and all the Mediterranean area. It is a microacupuncture technique similar to reflexology, and was first described in France in 1950 by Paul Nogier who is considered the Father of modern ear acupuncture. It was speculated that the technique works because groups of pluripotent cells contain information from the whole organism and create regional organization centers representing different parts of the body. Nevertheless stimulation of a reflex point in the ear seems relieve symptoms of distant pathologies. Modern research is confirming the efficacy of ear acupuncture for analgesia and anxiety related disease, while tobacco dependence and other substance abuse still need confirmation. Actually main methodological problems with auricular acupuncture are that exist too many maps with little agreement regarding point location in the ear, and that the correspondence or reflex systems does not correlated with modern knowledge of anatomy and physiology. PMID:18227925

  11. Passive and active middle ear implants

    PubMed Central

    Beutner, Dirk; Hüttenbrink, Karl-Bernd

    2011-01-01

    Besides eradication of chronic middle ear disease, the reconstruction of the sound conduction apparatus is a major goal of modern ear microsurgery. The material of choice in cases of partial ossicular replacement prosthesis is the autogenous ossicle. In the event of more extensive destruction of the ossicular chain diverse alloplastic materials, e.g. metals, ceramics, plastics or composits are used for total reconstruction. Their specialised role in conducting sound energy within a half-open implant bed sets high demands on the biocompatibility as well as the acoustic-mechanic properties of the prosthesis. Recently, sophisticated titanium middle ear implants allowing individual adaptation to anatomical variations are widely used for this procedure. However, despite modern developments, hearing restoration with passive implants often faces its limitations due to tubal-middle-ear dysfunction. Here, implantable hearing aids, successfully used in cases of sensorineural hearing loss, offer a promising alternative. This article reviews the actual state of affairs of passive and active middle ear implants. PMID:22073102

  12. Evolution and development of the vertebrate ear

    NASA Technical Reports Server (NTRS)

    Fritzsch, B.; Beisel, K. W.

    2001-01-01

    This review outlines major aspects of development and evolution of the ear, specifically addressing issues of cell fate commitment and the emerging molecular governance of these decisions. Available data support the notion of homology of subsets of mechanosensors across phyla (proprioreceptive mechanosensory neurons in insects, hair cells in vertebrates). It is argued that this conservation is primarily related to the specific transducing environment needed to achieve mechanosensation. Achieving this requires highly conserved transcription factors that regulate the expression of the relevant structural genes for mechanosensory transduction. While conserved at the level of some cell fate assignment genes (atonal and its mammalian homologue), the ear has also radically reorganized its development by implementing genes used for cell fate assignment in other parts of the developing nervous systems (e.g., neurogenin 1) and by evolving novel sets of genes specifically associated with the novel formation of sensory neurons that contact hair cells (neurotrophins and their receptors). Numerous genes have been identified that regulate morphogenesis, but there is only one common feature that emerges at the moment: the ear appears to have co-opted genes from a large variety of other parts of the developing body (forebrain, limbs, kidneys) and establishes, in combination with existing transcription factors, an environment in which those genes govern novel, ear-related morphogenetic aspects. The ear thus represents a unique mix of highly conserved developmental elements combined with co-opted and newly evolved developmental elements.

  13. Virtual endoscopy of the middle ear.

    PubMed

    Neri, E; Caramella, D; Panconi, M; Berrettini, S; Sellari Franceschini, S; Forli, F; Bartolozzi, C

    2001-01-01

    Virtual endoscopy is a computer-generated simulation of fiberoptic endoscopy, and its application to the study of the middle ear has been recently proposed. The need to represent the middle ear anatomy by means of virtual endoscopy arose from the increased interest of otolarygologists in transtympanic endoscopy. In fact, this imaging method allows the visualization of middle ear anatomy with high detail, but it is evasive and is essentially used for surgical guidance. Virtual endoscopy provides similar perspectives of the tympanic cavity but does not require the tympanic perforation. In the study of the middle ear, specific attention is given to the retroperitoneum. This region contains elevations of the medial wall (pyramidal eminence and ridge, styloid eminence and ridge, subiculum, ponticulus) and depressions (sinus tympani, posterior sinus tympani, facial sinus, fossula of Grivot, oval window fossula), which can be effectively displayed by virtual endoscopy. Virtual endoscopy is foreseen as a useful tool in preoperative management of patients who are candidates for middle ear surgery, since it can predict with high detail the patient's specific anatomy by imaging perspectives familiar to otosurgeons. PMID:11194916

  14. Associated malformations in patients with limb reduction deficiencies.

    PubMed

    Stoll, Claude; Alembik, Yves; Dott, Beatrice; Roth, Marie-Paule

    2010-01-01

    Infants with limb reduction deficiencies (LRD) often have other associated congenital malformations. The purpose of this investigation was to assess the prevalence and the types of associated malformations in a defined population. This study included special strengths: each affected child was examined by a geneticist, all elective terminations were ascertained, and the surveillance for malformations was continued until 1 year of age. The associated malformations in infants with LRD were collected in all livebirths, stillbirths and terminations of pregnancy during 25 years in 347,810 consecutive births in the area covered by our population based registry of congenital malformations. Of the 271 LRD infants born during this period, representing a prevalence of 7.8 per 10,000, 57.9% had associated malformations. There were 17(6.3%) patients with chromosomal abnormalities including 10 trisomies 18, and 62 (22.9%) nonchromosomal recognized dysmorphic conditions. There were no predominant recognized dysmorphic conditions, but VA(C)TER(L) association. However numerous recognized dysmorphic conditions were registered including Poland, ectrodactyly-ectodermal dysplasia-clefting, oral-facial-digital, Klippel-Trenaunay-Weber, oculo-auriculo-vertebral defect spectrum, CHARGE, Townes-Brocks, Moebius, Du Pan, Smith-Lemli-Opitz, hypoglossia-hypodactyly, amniotic band, De Lange, Rubinstein-Taybi, Fanconi, radius aplasia- thrombocytopenia, Roberts, Holt-Oram, and fetal diethylstilbestrol. Seventy eight (28.8%) of the patients were multiply, non-syndromic, non chromosomal malformed infants (MCA). Malformations in the cardiac system, in the genital system, and in the central nervous system were the most common other malformations, 11.4%, 9.4%, and 7.7% of the associated malformations, respectively, followed by malformations in the renal system (4.8%), and in the digestive system (4.6%). Prenatal diagnosis was performed in 48.4% of dysmorphic syndromes with LRD. The overall prevalence

  15. Craniofacial malformation among endemic cretins in Ecuador.

    PubMed

    Israel, H; Johnson, G F; Fierro-Benitez, R

    1983-01-01

    Nearly 6% of the inhabitants of two villages in Ecuador are deaf-mute and mentally retarded cretins. These communities are situated in the Andean highlands where environmental and dietary stores of iodine are extremely scarce. Endemic goiter and cretinism are widespread, and 10% of the cretins are additionally burdened with dwarfism and facial dysmorphia. Those with obvious involvement of the skeletal system were selected in order to study the extent of craniofacial malformation. Their appearance is characterized by midface hypoplasia, a broad nose with a depressed bridge, and a conspicuous circumoral prominence. Radiographic evaluation demonstrates a vertical displacement of the cranial base with an associated upward tilt of the midface. The flattened frontal bone, reduced frontal sinus pneumatization, and diminutive nasal bones collectively create a backward sloping face. The defect in the craniofacial skeleton of these Ecuadorian cretins is characteristic, and it readily sets them apart from the dysmorphism of those cretins with myxedema. PMID:6874895

  16. CT of thrombosed arteriovenous malformations in children

    SciTech Connect

    Mitnick, J.S.; Pinto, R.S.; Lin, J.P.; Rose, H.; Lieberman, A.

    1984-02-01

    Thrombosed arteriovenous malformations (AVMs) in children are rare lesions that may present with headaches or a seizure disorder. Thirteen patients (4 months to 21 years of age) with this lesion were examined with computed tomography (CT). In 11 patients surgical confirmation was obtained, and the other two patients were examined with follow-up CT scans. Angiography either showed an avascular mass (7/13) or was negative (6/13). CT showed a lobulated lesion (8/13), peripheral location (11/13), and minimal surrounding edema (8/13). All of the lesions were hyperdense prior to the administration of contrast material and all enhanced either slightly or not at all following contrast material administration. It is concluded that these characteristic CT features aid in making the diagnosis of thrombosed AVM. The major differential diagnosis is small intracerebral neoplasm.

  17. Advanced noninvasive imaging of spinal vascular malformations

    PubMed Central

    Eddleman, Christopher S.; Jeong, Hyun; Cashen, Ty A.; Walker, Matthew; Bendok, Bernard R.; Batjer, H. Hunt; Carroll, Timothy J.

    2010-01-01

    Spinal vascular malformations (SVMs) are an uncommon, heterogeneous group of vascular anomalies that can render devastating neurological consequences if they are not diagnosed and treated in a timely fashion. Imaging SVMs has always presented a formidable challenge because their clinical and imaging presentations resemble those of neoplasms, demyelination diseases, and infection. Advancements in noninvasive imaging modalities (MR and CT angiography) have increased during the last decade and have improved the ability to accurately diagnose spinal vascular anomalies. In addition, intraoperative imaging techniques have been developed that aid in the intraoperative assessment before, during, and after resection of these lesions with minimal and/or optimal use of spinal digital subtraction angiography. In this report, the authors review recent advancements in the imaging of SVMs that will likely lead to more timely diagnoses and treatment while reducing procedural risk exposure to the patients who harbor these uncommon spinal lesions. PMID:19119895

  18. Cerebral cavernous malformation proteins at a glance.

    PubMed

    Draheim, Kyle M; Fisher, Oriana S; Boggon, Titus J; Calderwood, David A

    2014-02-15

    Loss-of-function mutations in genes encoding KRIT1 (also known as CCM1), CCM2 (also known as OSM and malcavernin) or PDCD10 (also known as CCM3) cause cerebral cavernous malformations (CCMs). These abnormalities are characterized by dilated leaky blood vessels, especially in the neurovasculature, that result in increased risk of stroke, focal neurological defects and seizures. The three CCM proteins can exist in a trimeric complex, and each of these essential multi-domain adaptor proteins also interacts with a range of signaling, cytoskeletal and adaptor proteins, presumably accounting for their roles in a range of basic cellular processes including cell adhesion, migration, polarity and apoptosis. In this Cell Science at a Glance article and the accompanying poster, we provide an overview of current models of CCM protein function focusing on how known protein-protein interactions might contribute to cellular phenotypes and highlighting gaps in our current understanding. PMID:24481819

  19. Benign Vascular Malformation at the Ischial Tuberosity.

    PubMed

    Said, Rami; Bevelaqua, Anna-Christina

    2016-07-01

    A 31-year-old female student was referred to physical therapy with a chief complaint of proximal, posterior left thigh pain that began insidiously 12 months prior, and progressively worsened while training for a half-marathon. A mobile, soft mass was identified just inferior to the ischial tuberosity that was tender and painful to palpation, recreating the patient's chief complaint. Radiographic findings were negative for a suspected avulsion fracture at the ischial tuberosity. Therefore, the physician performed musculoskeletal ultrasonography, which revealed a superficial hypoechoic mass with vascular flow. Magnetic resonance imaging and a subsequent biopsy led to the diagnosis of a benign vascular malformation. J Orthop Sports Phys Ther 2016;46(7):607. doi:10.2519/jospt.2016.0410. PMID:27363574

  20. Multimodal device for assessment of skin malformations

    NASA Astrophysics Data System (ADS)

    Bekina, A.; Garancis, V.; Rubins, U.; Spigulis, J.; Valeine, L.; Berzina, A.

    2013-11-01

    A variety of multi-spectral imaging devices is commercially available and used for skin diagnostics and monitoring; however, an alternative cost-efficient device can provide an advanced spectral analysis of skin. A compact multimodal device for diagnosis of pigmented skin lesions was developed and tested. A polarized LED light source illuminates the skin surface at four different wavelengths - blue (450 nm), green (545 nm), red (660 nm) and infrared (940 nm). Spectra of reflected light from the 25 mm wide skin spot are imaged by a CMOS sensor. Four spectral images are obtained for mapping of the main skin chromophores. The specific chromophore distribution differences between different skin malformations were analyzed and information of subcutaneous structures was consecutively extracted.

  1. Diagnosis and management of pulmonary arteriovenous malformations

    PubMed Central

    Papagiannis, J; Apostolopoulou, S; Sarris, GE; Rammos, S

    2002-01-01

    Pulmonary arteriovenous malformation is a rare anomaly that presents in several different ways. It can present as an isolated finding, or more often in the context of hereditary haemorrhagic telangiectasia. It can also complicate palliative surgery such as the Glenn operation for complex congenital heart disease with single ventricle physiology. Its management includes transcatheter embolization, which is the preferred mode of therapy, surgery (including resection of the affected lobe, segment, or the fistula itself), or rarely, medical therapy. Complications of the disease itself and of various modes of treatment are relatively common, and patients require close surveillance for possible recurrence, or development of new fistulas. In cases related to the Glenn operation, redirection of hepatic venous flow or heart transplantation may cure the problem. PMID:22368610

  2. Neurogenic dysphagia resulting from Chiari malformations.

    PubMed

    Pollack, I F; Pang, D; Kocoshis, S; Putnam, P

    1992-05-01

    Between 1980 and 1989, 15 of 46 patients (11 children, 4 adults) who underwent suboccipital craniectomy and cervical laminectomy for symptomatic Chiari malformations presented with manifestations of neurogenic dysphagia. Each of these patients had normal swallowing function before the development of dysphagic symptoms. Dysphagia was progressive in all 15 and, in most cases, preceded the onset of other severe brain stem signs. The rate of symptom progression varied depending on the age of the patient. Whereas the six infants (all Chiari II) deteriorated rapidly after the onset of initial symptoms, the five older children (two Chiari I, three Chiari II) and four adults (all Chiari I) showed a more gradual deterioration. In 11 patients with severe dysphagia, barium video esophagograms, pharyngoesophageal motility studies, continuous esophageal pH monitoring, and appropriate scintigraphic studies were useful in defining the scope of the swallowing impairment and determining whether perioperative nasogastric or gastrostomy feedings, gastric fundoplication, and/or tracheostomy were needed to maintain adequate nutrition and avoid aspiration. These patients all had widespread dysfunction of the swallowing mechanism, with a combination of diffuse pharyngoesophageal dysmotility, cricopharyngeal achalasia, nasal regurgitation, tracheal aspiration, and gastroesophageal reflux. The pathophysiology of these swallowing impairments and their relation to the hindbrain malformation is discussed. Postoperative outcome with regard to swallowing function correlated with the severity of preoperative symptoms. The four patients with mild dysphagia showed rapid improvement in swallowing function after surgery. Seven patients with more severe impairment but without other signs of severe brain stem compromise, such as central apnea or complete bilateral vocal cord paralysis, also improved, albeit more slowly. In contrast, the outcome in the four patients who developed other signs of severe

  3. Amplatzer vascular plugs in congenital cardiovascular malformations

    PubMed Central

    Barwad, Parag; Ramakrishnan, Sivasubramanian; Kothari, Shyam S; Saxena, Anita; Gupta, Saurabh K; Juneja, Rajnish; Gulati, Gurpreet Singh; Jagia, Priya; Sharma, Sanjiv

    2013-01-01

    Background: Amplatzer vascular plugs (AVPs) are devices ideally suited to close medium-to-large vascular communications. There is limited published literature regarding the utility of AVPs in congenital cardiovascular malformations (CCVMs). Aims: To describe the use of AVPs in different CCVMs and to evaluate their safety and efficacy. Materials and Methods: All patients who required an AVP for the closure of CCVM were included in this retrospective review of our catheterization laboratory data. The efficacy and safety of AVPs are reported. Results: A total of 39 AVPs were implanted in 31 patients. Thirteen (33%) were AVP type I and 23 (59%) were AVP type II. AVP type III were implanted in two patients and type IV in one patient. The major indications for their use included closure of pulmonary arteriovenous malformation (AVM) (n = 7), aortopulmonary collaterals (n = 7), closure of a patent Blalock-Taussig shunt (n = 5), systemic AVM (n = 5), coronary AVM (n = 4), patent ductus arteriosus (PDA) (n = 3), pulmonary artery aneurysms (n = 3), and venovenous collaterals (n = 2). Deployment of the AVP was done predominantly via the 5 – 7F Judkin's right coronary guide catheter. Overall 92% of the AVPs could be successfully deployed and resulted in occlusion of the target vessel in all cases, within 10 minutes. No procedure-related or access site complication occurred. Conclusions: AVPs are versatile, easy to use, and effective devices to occlude the vascular communications in a variety of settings. AVP II is especially useful in the closure of tubular structures with a high flow. PMID:24688229

  4. Precise individualized armature for ear reconstruction

    NASA Astrophysics Data System (ADS)

    Evenhouse, Raymond J.; Chen, Xiaoming

    1991-04-01

    The cosmetic result of an ear restored surgically or via prosthetics is dependent on the surgeon''s ability to carve a precise cartilage armature at the time of surgery or the prosthetist''s ability to sculpt in wax an exact duplicate of the patient''s " missing" ear. Introducing CAD/CAM technology into the process benefits the esthetic outcome of these procedures. By utilizing serial section information derived from CAT MRI or moulage techniques a mirrorimage of the patient''s " donor" ear is generated. The resulting earform data is then used for the design of a cartilage armature produced by multi-axis milling or to produce by stereolithography a model which serves as the basis for a prosthesis.

  5. [Bone Conduction and Active Middle Ear Implants].

    PubMed

    Volkenstein, S; Thomas, J P; Dazert, S

    2016-05-01

    The majority of patients with moderate to severe hearing loss can be supplied with conventional hearing aids depending on severity and cause for hearing loss in a satisfying way. However, some patients either do not benefit enough from conventional hearing aids or cannot wear them due to inflammatory reactions and chronic infections of the external auditory canal or due to anatomical reasons. For these patients there are fully- and semi-implantable middle ear and bone conduction implants available. These devices either directly stimulate the skull (bone conduction devices), middle ear structures (active middle ear implants) or the cochlea itself (direct acoustic stimulation). Patients who failed surgical hearing rehabilitation or do not benefit from conventional hearing aids may achieve a significant better speech understanding and tremendous improvement in quality of life by implantable hearing devices with careful attention to the audiological and anatomical indication criteria. PMID:27135430

  6. Congenital malformations and perinatal morbidity associated with intestinal neuronal dysplasia.

    PubMed

    Berger, S; Ziebell, P; OFFsler, M; Hofmann-von Kap-herr, S

    1998-09-01

    A close relation between different forms of dysganglionosis such as intestinal neuronal dysplasia (IND) type B and aganglionosis has been established. No systematic analysis of other malformations and diseases accompanying IND has been made as yet. Congenital malformations and perinatal morbidity were analyzed in 109 patients with IND seen at the Department of Pediatric Surgery in Mainz from 1977 to 1996. IND was associated with Hirschsprung's disease in 47 cases; 22 children with IND had other abdominal malformations, including anal atresia, rectal stenosis, sigmoidal stenosis, ileal atresia, pyloric stenosis, and esophageal atresia. A cystic bowel duplication, a choledochal cyst, and a persisting urachus were also found. Extra-abdominal malformations such as Down's syndrome, congenital diaphragmatic hernia, aortic stenosis, and malformations of vertebral bodies were seen. Twin siblings of children with IND were either healthy (n=3) or died in utero (n=1). Seventeen children with IND developed severe intra-abdominal complications during the perinatal period such as necrotizing enterocolitis (NEC), meconium ileus, or bowel perforations. NEC was frequently associated with preterm birth. Bowel perforations were seen in mature and preterm newborns with IND. Taken together, IND is found in a variety of obstructive bowel diseases. This may support the hypothesis that IND is a secondary phenomenon or that congenital atresias and stenoses of the digestive tract have a pathogenesis similar to that of intestinal innervation disturbances. IND may also be a part of complex malformation patterns since it occurs with a number of extraintestinal and non-obstructive intestinal malformations. PMID:9716673

  7. A developmental and genetic classification for midbrain-hindbrain malformations

    PubMed Central

    Millen, Kathleen J.; Dobyns, William B.

    2009-01-01

    Advances in neuroimaging, developmental biology and molecular genetics have increased the understanding of developmental disorders affecting the midbrain and hindbrain, both as isolated anomalies and as part of larger malformation syndromes. However, the understanding of these malformations and their relationships with other malformations, within the central nervous system and in the rest of the body, remains limited. A new classification system is proposed, based wherever possible, upon embryology and genetics. Proposed categories include: (i) malformations secondary to early anteroposterior and dorsoventral patterning defects, or to misspecification of mid-hindbrain germinal zones; (ii) malformations associated with later generalized developmental disorders that significantly affect the brainstem and cerebellum (and have a pathogenesis that is at least partly understood); (iii) localized brain malformations that significantly affect the brain stem and cerebellum (pathogenesis partly or largely understood, includes local proliferation, cell specification, migration and axonal guidance); and (iv) combined hypoplasia and atrophy of putative prenatal onset degenerative disorders. Pertinent embryology is discussed and the classification is justified. This classification will prove useful for both physicians who diagnose and treat patients with these disorders and for clinical scientists who wish to understand better the perturbations of developmental processes that produce them. Importantly, both the classification and its framework remain flexible enough to be easily modified when new embryologic processes are described or new malformations discovered. PMID:19933510

  8. Maternal Hypothyroidism in Early Pregnancy and Infant Structural Congenital Malformations

    PubMed Central

    Norstedt Wikner, Birgitta

    2014-01-01

    Background. The question is debated on whether maternal hypothyroidism or use of thyroxin in early pregnancy affects the risk for infant congenital malformations. Objectives. To expand the previously published study on maternal thyroxin use in early pregnancy and the risk for congenital malformations. Methods. Data from the Swedish Medical Birth Register were used for the years 1996–2011 and infant malformations were identified from national health registers. Women with preexisting diabetes or reporting the use of thyreostatics, anticonvulsants, or antihypertensives were excluded from analysis. Risk estimates were made as odds ratios (ORs) or risk ratios (RRs) after adjustment for year of delivery, maternal age, parity, smoking, and body mass index. Results. Among 23 259 infants whose mothers in early pregnancy used thyroxin, 730 had a major malformation; among all 1 567 736 infants, 48012 had such malformations. The adjusted OR was 1.06 (95% CI 0.98–1.14). For anal atresia the RR was 1.85 (95% CI 1.00–1.85) and for choanal atresia 3.14 (95% CI 1.26–6.47). The risk of some other malformations was also increased but statistical significance was not reached. Conclusions. Treated maternal hypothyroidism may be a weak risk factor for infant congenital malformations but an association with a few rare conditions is possible. PMID:24744955

  9. [Complications Resulting from Taking Ear Impressions].

    PubMed

    Sugiuchi, Tomoko; Kodera, Kazuoki; Zusho, Hiroyuki; Asano, Yoshikazu; Kanesada, Keiko; Hayashida, Mitsuhiro; Kanaya, Koichiro; Tokumaru, Takeshi

    2015-08-01

    In 2012, we carried out a study in a large sample to understand the secondary injuries caused during the taking ear impressions for hearing aids. This study is a follow-up of previous research conducted in 1986 (285 medical institutions) and 1999 (98 medical institutions). We posted a questionnaire survey to the otolaryngology departments of 3,257 medical institutions. The response rate to the questionnaire was 62.9% (2,050 of the 3,257 institutions), and the results indicated that 301 of the 2050 institutions (14.7%) had experience with secondary injuries, with a total of 460 cases reported. In 342 of the 460 cases (74.3%), the secondary injuries occurred at hearing-aid dealerships, followed by 67 cases (14.6%) at affiliated medical institutions, and 51 cases (11.1%) in other locations, including other medical institutions, rehabilitation counseling centers, and educational institutions. The most common type of secondary injury (298 cases, 64.8%) was caused by the presence of foreign bodies in the ear, which in turn was a result of complications occurring during the removal of residual ear impression material. Of these 298 cases, 32 required excision of the foreign bodies and surgical intervention under general anesthesia. The remaining 10 cases exhibited isolated tympanic membrane perforation without foreign body-related complications. Furthermore, 146 cases (31.7%) developed bleeding and otitis externa following removal of the ear impression, and there were reports of cases with bleeding that required long-term outpatient care and treatment. Therefore, since retention of a foreign body in the ear and tympanic membrane perforation can occur even in patients without a history of surgery or prior otologic history, adjustment of hearing aids requires prior otorhinolaryngological examination. Furthermore, because of the risk of secondary injury when taking ear impressions, this procedure must be performed with caution under the guidance of an otolaryngologist. PMID

  10. High intensity anthropogenic sound damages fish ears

    NASA Astrophysics Data System (ADS)

    McCauley, Robert D.; Fewtrell, Jane; Popper, Arthur N.

    2003-01-01

    Marine petroleum exploration involves the repetitive use of high-energy noise sources, air-guns, that produce a short, sharp, low-frequency sound. Despite reports of behavioral responses of fishes and marine mammals to such noise, it is not known whether exposure to air-guns has the potential to damage the ears of aquatic vertebrates. It is shown here that the ears of fish exposed to an operating air-gun sustained extensive damage to their sensory epithelia that was apparent as ablated hair cells. The damage was regionally severe, with no evidence of repair or replacement of damaged sensory cells up to 58 days after air-gun exposure.

  11. Middle ear cholesteatoma in 11 dogs

    PubMed Central

    Greci, Valentina; Travetti, Olga; Di Giancamillo, Mauro; Lombardo, Rocco; Giudice, Chiara; Banco, Barbara; Mortellaro, Carlo M.

    2011-01-01

    Middle ear cholesteatoma is a rare condition in dogs with chronic otitis. Otorrhea, otodinia, and pain on temporomandibular joint palpation are the most common clinical signs. Neurological abnormalities are often detectable. Computed tomography reveals the presence of an expansive and invasive unvascularized lesion involving the tympanic cavity and the bulla, with little or no contrast enhancement after administration of contrast mediu. Video-otoscopy may detect pearly growth or white/yellowish scales in the middle ear cavity. Surgery is the only therapy but is associated with a high risk of recurrence. PMID:22131579

  12. Acinetobacter and similar organisms in ear infections.

    PubMed

    Dadswell, J V

    1976-08-01

    Fifty-seven strains of acinetobacter-like organisms were isolated over a period of 26 months from the ears of 55 patients with acute or chronic otitis media, or otitis externa, and one strain was isolated in a survey of 50 normal ears. After comparison with eight reference strains, 32 of the isolates were identified as Acinetobacter anitratus, 22 as Acinetobacter Iwoffii, three as Moraxella spp. and one as Achromobacter sp. Analysis of the clinical findings suggests that although most of these organisms played little part in the disease process, a few strains were probably pathogenic in this situation. PMID:957420

  13. Neurosurgical management of congenital malformations of the brain.

    PubMed

    Hervey-Jumper, Shawn L; Cohen-Gadol, Aaron A; Maher, Cormac O

    2011-08-01

    Congenital malformations encompass a diverse group of disorders that often present at birth, either as the result of genetic abnormalities, infection, errors of morphogenesis, or abnormalities in the intrauterine environment. Congenital disorders affecting the brain are now often diagnosed before delivery with the use of prenatal ultrasonography. Over the past several decades, there have been major advances in the understanding and management of these conditions. This review focuses on the most common cranial congenital malformations, limiting the discussion to the neurosurgically relevant aspects of arachnoid cysts, pineal cysts, Chiari malformations, and encephaloceles. PMID:21807319

  14. US and MRI features in venous vascular malformation of the abdominal wall. A case report

    PubMed Central

    Alessandrino, F.; Maira, A.; Tarantino, C.C.

    2012-01-01

    Vascular anomalies are classified as vascular tumors and vascular malformations. Venous vascular malformations are the most common type of vascular malformation. They may be isolated or multiple and they rarely affect the trunk. The authors report a rare case of isolated venous vascular malformation of the abdominal wall with an emphasis on the related MRI and ultrasound (US) features. PMID:23450707

  15. RASA1 somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome.

    PubMed

    Macmurdo, Colleen F; Wooderchak-Donahue, Whitney; Bayrak-Toydemir, Pinar; Le, Jenny; Wallenstein, Matthew B; Milla, Carlos; Teng, Joyce M C; Bernstein, Jonathan A; Stevenson, David A

    2016-06-01

    Germline mutations in RASA1 are associated with capillary malformation-arteriovenous malformation (CM-AVM) syndrome. CM-AVM syndrome is characterized by multi-focal capillary malformations and arteriovenous malformations. Lymphatic anomalies have been proposed as part of the phenotype. Intrafamilial variability has been reported, suggesting modifiers and somatic events. The objective of the study was to identify somatic RASA1 "second hits" from vascular malformations associated with CM-AVM syndrome, and describe phenotypic variability. Participants were examined and phenotyped. Genomic DNA was extracted from peripheral blood on all participants. Whole-exome sequencing was performed on the proband. Using Sanger sequencing, RASA1 exon 8 was PCR-amplified to track the c.1248T>G, p.Tyr416X germline variant through the family. A skin biopsy of a capillary malformation from the proband's mother was also obtained, and next-generation sequencing was performed on DNA from the affected tissue. A familial germline heterozygous novel pathogenic RASA1 variant, c.1248T>G (p.Tyr416X), was identified in the proband and her mother. The proband had capillary malformations, chylothorax, lymphedema, and overgrowth, while her affected mother had only isolated capillary malformations. Sequence analysis of DNA extracted from a skin biopsy of a capillary malformation of the affected mother showed a second RASA1 somatic mutation (c.2245C>T, p.Arg749X). These results and the extreme variable expressivity support the hypothesis that somatic "second hits" are required for the development of vascular anomalies associated with CM-AVM syndrome. In addition, the phenotypes of the affected individuals further clarify that lymphatic manifestations are also part of the phenotypic spectrum of RASA1-related disorders. © 2016 Wiley Periodicals, Inc. PMID:26969842

  16. Results of bone conduction following surgery for chronic ear disease.

    PubMed

    Vartiainen, E; Seppä, J

    1997-01-01

    Preoperative and postoperative bone conduction thresholds were compared in 181 chronic ears operated on over a 5-year period between 1990 to 1994. In the majority (92%) of cases the bone conduction thresholds remained unchanged (+/-10 dB). Nine ears (5%) showed better thresholds after surgery, with improvements ranging from 11 dB to 25 dB. This improvement was especially noted in ears with severe tympanic pathology. One ear with a large labyrinthine fistula became totally deaf after surgery. In 5 ears (3%) bone-conduction thresholds deteriorated, but remained measurable at all frequencies tested. In these latter cases this impairment ranged from 11 dB to 27 dB. Cholesteatomatous ears having intact ossicular chains were found to be at the highest risk of inner ear damage when "canal wall-down" mastoidectomies were performed. Methods for prevention of sensorineural hearing loss following chronic ear surgery are discussed. PMID:9332894

  17. Ear tube surgery - what to ask your doctor

    MedlinePlus

    ... this page: //medlineplus.gov/ency/patientinstructions/000220.htm Ear tube surgery - what to ask your doctor To ... enable JavaScript. Your child is being evaluated for ear tube insertion. This is the placement of tubes ...

  18. Middle Ear Infection (Chronic Otitis Media) and Hearing Loss

    MedlinePlus

    ... You Middle Ear Infection (Chronic Otitis Media) and Hearing Loss Middle Ear Infection (Chronic Otitis Media) and Hearing ... learning important speech and language skills. Types of hearing loss Conductive hearing loss is a form of hearing ...

  19. Endoscopic Management of Middle Ear and Temporal Bone Lesions.

    PubMed

    Isaacson, Brandon; Nogueira, João Flávio

    2016-10-01

    Tantamount to the management of temporal bone neoplasms is the ability to visualize the pathology and its relationship with the numerous critical structures housed therein. Transcanal endoscopic ear surgery provides the surgeon with an unparalleled view of the entire middle ear. This article presents the latest information on the usefulness of transcanal endoscopic ear surgery in the management of middle ear and temporal bone neoplasms. PMID:27468636

  20. The Role of Immittance Audiometry in Detecting Middle Ear Disease

    PubMed Central

    Jacobson, John T.

    1981-01-01

    Immittance audiometry is an objective technique which evaluates middle ear function by three procedures: static immittance, tympanometry, and the measurement of acoustic reflex threshold sensitivity. This article discusses the technique's ability to identify middle ear effusion, the single leading ear disease in children. A comparison of immittance screening and traditional pure tone audiometry was conducted on 311 school aged children. The results of this study reveal the superiority of immittance audiometry in detecting middle ear pathology. PMID:21289666

  1. How to Prevent Painful Swimmer's Ear

    MedlinePlus

    ... Related MedlinePlus Health Topics Children's Health Ear Infections Water Safety (Recreational) About MedlinePlus Site Map FAQs Contact Us Get email updates Subscribe to RSS Follow us Disclaimers Copyright Privacy Accessibility Quality Guidelines Viewers & Players MedlinePlus Connect for EHRs For ...

  2. "Hot Tub Rash" and "Swimmer's Ear" (Pseudomonas)

    MedlinePlus

    Facts About “Hot Tub Rash” and “Swimmer’s Ear” (Pseudomonas) What is Pseudomonas and how can it affect me? Pseudomonas (sue-doh- ... a major cause of infections commonly known as “hot tub rash” and “swimmer’s ear.” This germ is ...

  3. Ear biometric recognition using local texture descriptors

    NASA Astrophysics Data System (ADS)

    Benzaoui, Amir; Hadid, Abdenour; Boukrouche, Abdelhani

    2014-09-01

    Automated personal identification using the shape of the human ear is emerging as an appealing modality in biometric and forensic domains. This is mainly due to the fact that the ear pattern can provide rich and stable information to differentiate and recognize people. In the literature, there are many approaches and descriptors that achieve relatively good results in constrained environments. The recognition performance tends, however, to significantly decrease under illumination variation, pose variation, and partial occlusion. In this work, we investigate the use of local texture descriptors, namely local binary patterns, local phase quantization, and binarized statistical image features for robust human identification from two-dimensional ear imaging. In contrast to global image descriptors which compute features directly from the entire image, local descriptors representing the features in small local image patches have proven to be more effective in real-world conditions. Our extensive experimental results on the benchmarks IIT Delhi-1, IIT Delhi-2, and USTB ear databases show that local texture features in general and BSIF in particular provide a significant performance improvement compared to the state-of-the-art.

  4. Evolution: Fossil Ears and Underwater Sonar.

    PubMed

    Lambert, Olivier

    2016-08-22

    A key innovation in the history of whales was the evolution of a sonar system together with high-frequency hearing. Fossils of an archaic toothed whale's inner ear bones provide clues for a stepwise emergence of underwater echolocation ability. PMID:27554653

  5. Getting Teens to Read with Their Ears

    ERIC Educational Resources Information Center

    Fues, Marianne Cole

    2009-01-01

    Audiobooks have been around for years in various formats, like cassette tapes and CDs. This article describes a new type of audiobook on the market which is generating an interest in "reading." The device, called Playaway, is the size of a MP3 player and comes with a lanyard and ear buds. Buttons on the back of the player control the speed and…

  6. Ear Infections - Multiple Languages: MedlinePlus

    MedlinePlus

    ... on this page, please enable JavaScript. French (français) Japanese (日本語) Korean (한국어) Russian (Русский) Somali (af Soomaali) ... moyenne - français (French) Bilingual PDF Health Information Translations Japanese (日本語) Middle Ear Infection 中耳炎 - 日本語 (Japanese) Bilingual ...

  7. MALLEABLE INSPECTION STATION WHERE WORKERS ELIMINATE MALFORMED CASTINGS AND SEPARATED ...

    Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

    MALLEABLE INSPECTION STATION WHERE WORKERS ELIMINATE MALFORMED CASTINGS AND SEPARATED GOOD CASTINGS PRIOR TO ANNEALING. - Stockham Pipe & Fittings Company, Malleable Annealing Building, 4000 Tenth Avenue North, Birmingham, Jefferson County, AL

  8. Optic chiasmal cavernous angioma: A rare suprasellar vascular malformation

    PubMed Central

    Abou-Al-Shaar, Hussam; Bahatheq, Ayman; Takroni, Radwan; Al-Thubaiti, Ibrahim

    2016-01-01

    Background: Suprasellar cavernous malformation in the optic pathway is not commonly encountered. To date, there are only few reports present in the literature. Case Description: The authors report a rare case of suprasellar optic pathway cavernous malformation in a 33-year-old female who presented with progressive visual loss. Her imaging revealed a large heterogeneous, hyperintense, hemorrhagic right suprasellar extra-axial complex cystic structure, causing mass effect on the adjacent hypothalamus and third ventricle displacing these structures. Gross total resection of the lesion was achieved utilizing a right frontal craniotomy approach. Histopathological examination confirmed the diagnosis of suprasellar chiasmal cavernous malformation. Conclusion: Although visual pathway cavernous malformation is a rare event, it should be included in the differential diagnosis of lesions occurring suprasellarly in the visual pathway and hypothalamus. PMID:27583178

  9. Variants in CUL4B are Associated with Cerebral Malformations

    PubMed Central

    Vulto-van Silfhout, Anneke T.; Nakagawa, Tadashi; Bahi-Buisson, Nadia; Haas, Stefan A.; Hu, Hao; Bienek, Melanie; Vissers, Lisenka E.L.M.; Gilissen, Christian; Tzschach, Andreas; Busche, Andreas; Müsebeck, Jörg; Rump, Patrick; Mathijssen, Inge B.; Avela, Kristiina; Somer, Mirja; Doagu, Fatma; Philips, Anju K.; Rauch, Anita; Baumer, Alessandra; Voesenek, Krysta; Poirier, Karine; Vigneron, Jacqueline; Amram, Daniel; Odent, Sylvie; Nawara, Magdalena; Obersztyn, Ewa; Lenart, Jacek; Charzewska, Agnieszka; Lebrun, Nicolas; Fischer, Ute; Nillesen, Willy M.; Yntema, Helger G.; Järvelä, Irma; Ropers, Hans-Hilger; de Vries, Bert B.A.; Brunner, Han G.; van Bokhoven, Hans; Raymond, F. Lucy; Willemsen, Michèl A.A.P.; Chelly, Jamel; Xiong, Yue; Barkovich, A. James; Kalscheuer, Vera M.; Kleefstra, Tjitske; de Brouwer, Arjan P.M.

    2015-01-01

    Variants in cullin 4B (CUL4B) are a known cause of syndromic X-linked intellectual disability. Here, we describe an additional 25 patients from 11 families with variants in CUL4B. We identified nine different novel variants in these families and confirmed the pathogenicity of all nontruncating variants. Neuroimaging data, available for 15 patients, showed the presence of cerebral malformations in ten patients. The cerebral anomalies comprised malformations of cortical development (MCD), ventriculomegaly, and diminished white matter volume. The phenotypic heterogeneity of the cerebral malformations might result from the involvement of CUL-4B in various cellular pathways essential for normal brain development. Accordingly, we show that CUL-4B interacts with WDR62, a protein in which variants were previously identified in patients with microcephaly and a wide range of MCD. This interaction might contribute to the development of cerebral malformations in patients with variants in CUL4B. PMID:25385192

  10. Genetics Home Reference: multiple cutaneous and mucosal venous malformations

    MedlinePlus

    ... These abnormal blood vessels show a deficiency of smooth muscle cells while endothelial cells are maintained. Venous malformations cause lesions below the surface of the skin or mucous membranes, which are ...

  11. Contracted foal syndrome associated with multiple malformations in two foals.

    PubMed

    Binanti, D; Zani, D D; De Zani, D; Turci, T; Zavaglia, G; Riccaboni, P

    2014-02-01

    Congenital anomalies in horses are very rare, and contracted foal syndrome is one of the most commonly reported. This malformation is characterized by contraction of the joints of the forelimbs and/or hindlimbs. In addition, the syndrome can be characterized by vertebral column malformations, such as scoliosis or torticollis, and cranial deformity. The present report describes the radiological and necroscopical findings of multiple rare malformations in two foals. Both foals showed skeletal abnormalities and fenestration of the abdominal cavity. Other pathological findings include a interventricular septal defect in one and a unilateral hydronephrosis and partial hydroureter in the other foal. Although in this report a specific aetiology could not be provided, insecticides treatment provided during the second month of pregnancy might play a role in the pathogenesis of these malformations. PMID:23406278

  12. The formation and management of middle ear granulation tissue in chronic ear disease.

    PubMed

    Roland, Peter S

    2004-01-01

    Granulation tissue is an important pathogenic feature of all types of chronic ear disease, and it can be controlled and treated with good aural toilet, appropriate antibiotic therapy, topical steroids, and chemical cautery or surgical debridement. PMID:14986396

  13. 40 CFR 211.206-1 - Real ear method.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... 40 Protection of Environment 25 2011-07-01 2011-07-01 false Real ear method. 211.206-1 Section 211... PRODUCT NOISE LABELING Hearing Protective Devices § 211.206-1 Real ear method. (a) The value of sound... “Method for the Measurement of Real-Ear Protection of Hearing Protectors and Physical Attenuation...

  14. 14 CFR 67.205 - Ear, nose, throat, and equilibrium.

    Code of Federal Regulations, 2013 CFR

    2013-01-01

    ... 14 Aeronautics and Space 2 2013-01-01 2013-01-01 false Ear, nose, throat, and equilibrium. 67.205... (CONTINUED) AIRMEN MEDICAL STANDARDS AND CERTIFICATION Second-Class Airman Medical Certificate § 67.205 Ear, nose, throat, and equilibrium. Ear, nose, throat, and equilibrium standards for a second-class...

  15. 40 CFR 211.206-1 - Real ear method.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 40 Protection of Environment 24 2010-07-01 2010-07-01 false Real ear method. 211.206-1 Section 211... PRODUCT NOISE LABELING Hearing Protective Devices § 211.206-1 Real ear method. (a) The value of sound... “Method for the Measurement of Real-Ear Protection of Hearing Protectors and Physical Attenuation...

  16. 14 CFR 67.305 - Ear, nose, throat, and equilibrium.

    Code of Federal Regulations, 2012 CFR

    2012-01-01

    ... 14 Aeronautics and Space 2 2012-01-01 2012-01-01 false Ear, nose, throat, and equilibrium. 67.305... (CONTINUED) AIRMEN MEDICAL STANDARDS AND CERTIFICATION Third-Class Airman Medical Certificate § 67.305 Ear, nose, throat, and equilibrium. Ear, nose, throat, and equilibrium standards for a third-class...

  17. 14 CFR 67.305 - Ear, nose, throat, and equilibrium.

    Code of Federal Regulations, 2013 CFR

    2013-01-01

    ... 14 Aeronautics and Space 2 2013-01-01 2013-01-01 false Ear, nose, throat, and equilibrium. 67.305... (CONTINUED) AIRMEN MEDICAL STANDARDS AND CERTIFICATION Third-Class Airman Medical Certificate § 67.305 Ear, nose, throat, and equilibrium. Ear, nose, throat, and equilibrium standards for a third-class...

  18. 14 CFR 67.105 - Ear, nose, throat, and equilibrium.

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... 14 Aeronautics and Space 2 2010-01-01 2010-01-01 false Ear, nose, throat, and equilibrium. 67.105... (CONTINUED) AIRMEN MEDICAL STANDARDS AND CERTIFICATION First-Class Airman Medical Certificate § 67.105 Ear, nose, throat, and equilibrium. Ear, nose, throat, and equilibrium standards for a first-class...

  19. 14 CFR 67.105 - Ear, nose, throat, and equilibrium.

    Code of Federal Regulations, 2012 CFR

    2012-01-01

    ... 14 Aeronautics and Space 2 2012-01-01 2012-01-01 false Ear, nose, throat, and equilibrium. 67.105... (CONTINUED) AIRMEN MEDICAL STANDARDS AND CERTIFICATION First-Class Airman Medical Certificate § 67.105 Ear, nose, throat, and equilibrium. Ear, nose, throat, and equilibrium standards for a first-class...

  20. 14 CFR 67.305 - Ear, nose, throat, and equilibrium.

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... 14 Aeronautics and Space 2 2010-01-01 2010-01-01 false Ear, nose, throat, and equilibrium. 67.305... (CONTINUED) AIRMEN MEDICAL STANDARDS AND CERTIFICATION Third-Class Airman Medical Certificate § 67.305 Ear, nose, throat, and equilibrium. Ear, nose, throat, and equilibrium standards for a third-class...

  1. 14 CFR 67.105 - Ear, nose, throat, and equilibrium.

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ... 14 Aeronautics and Space 2 2011-01-01 2011-01-01 false Ear, nose, throat, and equilibrium. 67.105... (CONTINUED) AIRMEN MEDICAL STANDARDS AND CERTIFICATION First-Class Airman Medical Certificate § 67.105 Ear, nose, throat, and equilibrium. Ear, nose, throat, and equilibrium standards for a first-class...

  2. 14 CFR 67.205 - Ear, nose, throat, and equilibrium.

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ... 14 Aeronautics and Space 2 2011-01-01 2011-01-01 false Ear, nose, throat, and equilibrium. 67.205... (CONTINUED) AIRMEN MEDICAL STANDARDS AND CERTIFICATION Second-Class Airman Medical Certificate § 67.205 Ear, nose, throat, and equilibrium. Ear, nose, throat, and equilibrium standards for a second-class...

  3. 14 CFR 67.305 - Ear, nose, throat, and equilibrium.

    Code of Federal Regulations, 2014 CFR

    2014-01-01

    ... 14 Aeronautics and Space 2 2014-01-01 2014-01-01 false Ear, nose, throat, and equilibrium. 67.305... (CONTINUED) AIRMEN MEDICAL STANDARDS AND CERTIFICATION Third-Class Airman Medical Certificate § 67.305 Ear, nose, throat, and equilibrium. Ear, nose, throat, and equilibrium standards for a third-class...

  4. 14 CFR 67.205 - Ear, nose, throat, and equilibrium.

    Code of Federal Regulations, 2012 CFR

    2012-01-01

    ... 14 Aeronautics and Space 2 2012-01-01 2012-01-01 false Ear, nose, throat, and equilibrium. 67.205... (CONTINUED) AIRMEN MEDICAL STANDARDS AND CERTIFICATION Second-Class Airman Medical Certificate § 67.205 Ear, nose, throat, and equilibrium. Ear, nose, throat, and equilibrium standards for a second-class...

  5. 14 CFR 67.305 - Ear, nose, throat, and equilibrium.

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ... 14 Aeronautics and Space 2 2011-01-01 2011-01-01 false Ear, nose, throat, and equilibrium. 67.305... (CONTINUED) AIRMEN MEDICAL STANDARDS AND CERTIFICATION Third-Class Airman Medical Certificate § 67.305 Ear, nose, throat, and equilibrium. Ear, nose, throat, and equilibrium standards for a third-class...

  6. 14 CFR 67.205 - Ear, nose, throat, and equilibrium.

    Code of Federal Regulations, 2014 CFR

    2014-01-01

    ... 14 Aeronautics and Space 2 2014-01-01 2014-01-01 false Ear, nose, throat, and equilibrium. 67.205... (CONTINUED) AIRMEN MEDICAL STANDARDS AND CERTIFICATION Second-Class Airman Medical Certificate § 67.205 Ear, nose, throat, and equilibrium. Ear, nose, throat, and equilibrium standards for a second-class...

  7. 40 CFR 211.206-1 - Real ear method.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... 40 Protection of Environment 26 2012-07-01 2011-07-01 true Real ear method. 211.206-1 Section 211... PRODUCT NOISE LABELING Hearing Protective Devices § 211.206-1 Real ear method. (a) The value of sound... “Method for the Measurement of Real-Ear Protection of Hearing Protectors and Physical Attenuation...

  8. 40 CFR 211.206-1 - Real ear method.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... 40 Protection of Environment 26 2013-07-01 2013-07-01 false Real ear method. 211.206-1 Section 211... PRODUCT NOISE LABELING Hearing Protective Devices § 211.206-1 Real ear method. (a) The value of sound... “Method for the Measurement of Real-Ear Protection of Hearing Protectors and Physical Attenuation...

  9. 14 CFR 67.205 - Ear, nose, throat, and equilibrium.

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... 14 Aeronautics and Space 2 2010-01-01 2010-01-01 false Ear, nose, throat, and equilibrium. 67.205... (CONTINUED) AIRMEN MEDICAL STANDARDS AND CERTIFICATION Second-Class Airman Medical Certificate § 67.205 Ear, nose, throat, and equilibrium. Ear, nose, throat, and equilibrium standards for a second-class...

  10. 14 CFR 67.105 - Ear, nose, throat, and equilibrium.

    Code of Federal Regulations, 2014 CFR

    2014-01-01

    ... 14 Aeronautics and Space 2 2014-01-01 2014-01-01 false Ear, nose, throat, and equilibrium. 67.105... (CONTINUED) AIRMEN MEDICAL STANDARDS AND CERTIFICATION First-Class Airman Medical Certificate § 67.105 Ear, nose, throat, and equilibrium. Ear, nose, throat, and equilibrium standards for a first-class...

  11. 40 CFR 211.206-1 - Real ear method.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... 40 Protection of Environment 25 2014-07-01 2014-07-01 false Real ear method. 211.206-1 Section 211... PRODUCT NOISE LABELING Hearing Protective Devices § 211.206-1 Real ear method. (a) The value of sound... “Method for the Measurement of Real-Ear Protection of Hearing Protectors and Physical Attenuation...

  12. 14 CFR 67.105 - Ear, nose, throat, and equilibrium.

    Code of Federal Regulations, 2013 CFR

    2013-01-01

    ... 14 Aeronautics and Space 2 2013-01-01 2013-01-01 false Ear, nose, throat, and equilibrium. 67.105... (CONTINUED) AIRMEN MEDICAL STANDARDS AND CERTIFICATION First-Class Airman Medical Certificate § 67.105 Ear, nose, throat, and equilibrium. Ear, nose, throat, and equilibrium standards for a first-class...

  13. Infertility, infertility treatment, and congenital malformations: Danish national birth cohort

    PubMed Central

    Zhu, Jin Liang; Basso, Olga; Obel, Carsten; Bille, Camilla; Olsen, Jørn

    2006-01-01

    Objectives To examine whether infertile couples (with a time to pregnancy of > 12 months), who conceive naturally or after treatment, give birth to children with an increased prevalence of congenital malformations. Design Longitudinal study. Setting Danish national birth cohort. Participants Three groups of liveborn children and their mothers: 50 897 singletons and 1366 twins born of fertile couples (time to pregnancy ≤ 12 months), 5764 singletons and 100 twins born of infertile couples who conceived naturally (time to pregnancy > 12 months), and 4588 singletons and 1690 twins born after infertility treatment. Main outcome measures Prevalence of congenital malformations determined from hospital discharge diagnoses. Results Compared with singletons born of fertile couples, singletons born of infertile couples who conceived naturally or after treatment had a higher prevalence of congenital malformations—hazard ratios 1.20 (95% confidence interval 1.07 to 1.35) and 1.39 (1.23 to 1.57). The overall prevalence of congenital malformations increased with increasing time to pregnancy. When the analysis was restricted to singletons born of infertile couples, babies born after treatment had an increased prevalence of genital organ malformations (hazard ratio 2.32, 1.24 to 4.35) compared with babies conceived naturally. No significant differences existed in the overall prevalence of congenital malformations among twins. Conclusions Hormonal treatment for infertility may be related to the occurrence of malformations of genital organs, but our results suggest that the reported increased prevalence of congenital malformations seen in singletons born after assisted reproductive technology is partly due to the underlying infertility or its determinants. The association between untreated infertility and congenital malformations warrants further examination. PMID:16893903

  14. Pulmonary arteriovenous malformation in chronic thromboembolic pulmonary hypertension

    PubMed Central

    Sharma, Arun; Gulati, Gurpreet S; Parakh, Neeraj; Aggarwal, Abhinav

    2016-01-01

    Chronic thromboembolic pulmonary hypertension is a morbid condition associated with complications such as hemoptysis, right heart failure, paradoxical embolism, and even death. There is no known association of chronic thromboembolic pulmonary hypertension with pulmonary arteriovenous malformation. Possible hypothesis for this association is an increased pulmonary vascular resistance leading to the compensatory formation of pulmonary arteriovenous malformation. We present one such case presenting with hemoptysis that was managed with endovascular treatment. PMID:27413264

  15. Multiple medullary venous malformations decreasing cerebral blood flow: Case report

    SciTech Connect

    Tomura, N.; Inugami, A.; Uemura, K.; Hadeishi, H.; Yasui, N. )

    1991-02-01

    A rare case of multiple medullary venous malformations in the right cerebral hemisphere is reported. The literature review yielded only one case of multiple medullary venous malformations. Computed tomography scan showed multiple calcified lesions with linear contrast enhancement representing abnormal dilated vessels and mild atrophic change of the right cerebral hemisphere. Single-photon emission computed tomography using N-isopropyl-p-({sup 123}I) iodoamphetamine demonstrated decreased cerebral blood flow in the right cerebral hemisphere.

  16. Oral encapsulated vascular malformation: An undescribed presentation in the mouth

    PubMed Central

    Dias, Márcio-Américo; Dias, Pedro-de Souza; Martínez-Martínez, Marisol; Sena-Filho, Marcondes; de Almeida, Oslei-Paes

    2016-01-01

    Vascular lesions have been classified in two broad categories, hemangiomas and malformations. Encapsulated vascular lesions have not been reported in the oral cavity, but they were described in other sites, mainly in the orbit. Herein, we present a case of an oral encapsulated vascular lesion located in the right buccal mucosa of a 69-year-old male, including histological and immunohistochemical description and a literature review. Key words:Buccal mucosa, hemangioma, vascular malformation, oral cavity. PMID:26855712

  17. Sincipital Encephaloceles: A Study of Associated Brain Malformations

    PubMed Central

    Achar, Shashidhar Vedavyas; Dutta, Hemonta Kumar

    2016-01-01

    Objective: The aim of this study was to evaluate the associated intracranial malformations in patients with sincipital encephaloceles. Materials and Methods: A hospital-based cross-sectional study was conducted over 8 years from June 2007 to May 2015 on 28 patients. The patients were evaluated by either computed tomography or magnetic resonance imaging whichever was feasible. Encephaloceles were described with respect to their types, contents, and extensions. A note was made on the associated malformations with sincipital encephaloceles. Results: Fifty percent of the patients presented before the age of 3 years and both the sexes were affected equally. Nasofrontal encephalocele was the most common type seen in 13 patients (46.4%), and corpus callosal agenesis (12 patients) was the most common associated malformation. Other malformations noted were arachnoid cyst (10 patients), hydrocephalus (7 patients), and agyria-pachygyria complex (2 patients). Conclusion: Capital Brain malformations are frequently encountered in children with sincipital encephaloceles. Detail radiological evaluation is necessary to plan treatment and also to prognosticate such rare malformations. PMID:27313974

  18. Eye malformations in Cameroonian children: a clinical survey

    PubMed Central

    Eballé, André Omgbwa; Ellong, Augustin; Koki, Godefroy; Nanfack, Ngoune Chantal; Dohvoma, Viola Andin; Mvogo, Côme Ebana

    2012-01-01

    Summary The aim of this work was to describe the clinical aspects of eye malformations observed at the ophthalmology unit of the Yaoundé Gynaecology, Obstetrics and Pediatrics Hospital. Patients and methods We carried out a retrospective study of all malformations of the eye and its adnexae observed among children aged 0–5 years who were seen at the ophthalmology unit from January 2003 to December 2009. Results Out of the 2254 children who were examined, 150 (6.65%) presented eye malformations. The mean age was 14.40 ± 4 months. Eye malformations were diagnosed in 71.66% of cases during the first year of life. The most frequent malformations were congenital lacrimal duct obstruction (66.66%), congenital cataract (10.9%), congenital glaucoma (10.9%), microphthalmos (5.03%), and congenital ptosis (3.77%). Conclusion Eye malformations among children can lead to visual impairment and are a cause for discomfort to children and parents. Therefore, systematic postnatal screening is recommended to enable early management. PMID:23055685

  19. Giant cystic cerebral cavernous malformation with multiple calcification - case report.

    PubMed

    Kim, Il-Chun; Kwon, Ki-Young; Rhee, Jong-Joo; Lee, Jong-Won; Hur, Jin-Woo; Lee, Hyun-Koo

    2013-09-01

    Cerebral cavernous malformation with giant cysts is rare and literature descriptions of its clinical features are few. In this case study, the authors describe the clinical symptoms, radiological findings, and pathological diagnosis of cerebral cavernous malformations with giant cysts, reviewing the relevant literature to clearly differentiate this from other disease entities. The authors present a case of a 19-year-old male with a giant cystic cavernous malformation, who was referred to the division of neurosurgery due to right sided motor weakness (grade II/II). Imaging revealed a large homogenous cystic mass, 7.2×4.6×6 cm in size, in the left fronto-parietal lobe and basal ganglia. The mass had an intra-cystic lesion, abutting the basal portion of the mass. The initial diagnosis considered this mass a glioma or infection. A left frontal craniotomy was performed, followed by a transcortical approach to resect the mass. Total removal was accomplished without post-operative complications. An open biopsy and a histopathological exam diagnosed the mass as a giant cystic cavernous malformation. Imaging appearances of giant cavernous malformations may vary. The clinical features, radiological features, and management of giant cavernous malformations are described based on pertinent literature review. PMID:24167810

  20. Partial tetrasomy 14 associated with multiple malformations.

    PubMed

    Winberg, Johanna; Lagerstedt Robinson, Kristina; Naess, Karin; Lesko, Nicole; Wibom, Rolf; Liedén, Agne; Anderlid, Britt-Marie; Graff, Caroline; Nordenskjöld, Agneta; Nordgren, Ann; Gustavsson, Peter

    2013-06-01

    We report on an 8-year-old female patient with multiple malformations including bilateral cleft lip and palate, coloboma, and craniosynostosis. She presented with severe intellectual disability, seizures, and gastrointestinal dysfunction. Mitochondrial investigations in a muscle biopsy revealed reduced activity in complex I of the mitochondrial respiratory chain. Chromosome analysis and fluorescent in situ hybridization (FISH) studies showed an isodicentric marker chromosome 14 that was identified in all cells analyzed in peripheral blood lymphocytes and cultured fibroblasts. Parental chromosome studies were normal. To further characterize the marker chromosome and determine its origin, we performed array-based comparative genomic hybridization (CGH) and polymorphic marker analysis with quantitative fluorescent PCR (QF-PCR). The combined results from cytogenetic and array-CGH analyses showed tetrasomy 14p13q13.1 and results from the QF-PCR point to formation of the marker chromosome in the maternal meiosis. Isodicentric chromosomes involving partial 14q have previously been reported in four cases; however, this is the first patient with tetrasomy 14p13q13.1 in non-mosaic form surviving beyond infancy. PMID:23613323

  1. Gastroesophageal reflux and congenital gastrointestinal malformations.

    PubMed

    Marseglia, Lucia; Manti, Sara; D'Angelo, Gabriella; Gitto, Eloisa; Salpietro, Carmelo; Centorrino, Antonio; Scalfari, Gianfranco; Santoro, Giuseppe; Impellizzeri, Pietro; Romeo, Carmelo

    2015-07-28

    Although the outcome of newborns with surgical congenital diseases (e.g., diaphragmatic hernia; esophageal atresia; omphalocele; gastroschisis) has improved rapidly with recent advances in perinatal intensive care and surgery, infant survivors often require intensive treatment after birth, have prolonged hospitalizations, and, after discharge, may have long-term sequelae including gastro-intestinal comorbidities, above all, gastroesophageal reflux (GER). This condition involves the involuntary retrograde passage of gastric contents into the esophagus, with or without regurgitation or vomiting. It is a well-recognized condition, typical of infants, with an incidence of 85%, which usually resolves after physiological maturation of the lower esophageal sphincter and lengthening of the intra-abdominal esophagus, in the first few months after birth. Although the exact cause of abnormal esophageal function in congenital defects is not clearly understood, it has been hypothesized that common (increased intra-abdominal pressure after closure of the abdominal defect) and/or specific (e.g., motility disturbance of the upper gastrointestinal tract, damage of esophageal peristaltic pump) pathological mechanisms may play a role in the etiology of GER in patients with birth defects. Improvement of knowledge could positively impact the long-term prognosis of patients with surgical congenital diseases. The present manuscript provides a literature review focused on pathological and clinical characteristics of GER in patients who have undergone surgical treatment for congenital abdominal malformations. PMID:26229394

  2. [Urinary tract abnormalities associated with anorectal malformations].

    PubMed

    Tohda, A; Hosokawa, S; Shimada, K

    1995-08-01

    Anorectal malformation (ARM) is often associated with urological problems such as congenital urogenital anomalies, recto-urinary fistula, neurogenic bladder due to vertebral anomalies and operative complications. We analyzed 57 cases of ARM and discussed about the management of associated urogenital anomalies during neonatal and infantile period. The incidence of urogenital anomalies was 85.7% in high type, 65.5% in intermediate type and 38.1% in low type. Among these urinary tract anomalies, VUR was most common and was documented in 38.6% of ARM patients. Renal dysplasia, PUJ stenosis, megaureter and urethral stenosis was also common in these patients. Renal dysfunction was documented in 5 cases (2 in high type, 2 in intermediate and 1 in low type), mainly due to VUR and renal aplasia. These results show the need for evaluation of urinary tract during the neonatal and early infantile period even in low type ARM. The management of urinary tract anomalies associated with ARM is firmly related with the management of ARM itself, and we must be closely in co-operation with pediatric surgeons. PMID:7474624

  3. Management and outcome of low anorectal malformations.

    PubMed

    Pakarinen, Mikko P; Rintala, Risto J

    2010-11-01

    Low anorectal malformation comprises about half of all anorectal anomalies. Most of the literature concerning management of anorectal anomalies is centred around the treatment and outcome of high anomalies. The management of low anomalies has been considered significantly less challenging than high anomalies. Also, the outcome of low anomalies has traditionally been considered good. However, recent more critical long-term follow-up reports show a different picture. Many patients with low anomalies suffer from long-term anorectal functional problems, especially constipation but also soiling that occurs in a significant percentage of patients. In this review, we compile the recent views on the diagnosis, surgical treatment and outcome of low anorectal anomalies. We also present an algorithm for the management of these anomalies. The emphasis on the surgical management of low anorectal anomalies is to use as minimally invasive operative methods as possible and preserve the native mechanisms of continence that usually are much better preserved than in more severe high anomalies. PMID:20845044

  4. Implications of an Incidental Pulmonary Arteriovenous Malformation

    PubMed Central

    Holden, Van K.; Shah, Nirav G.; Verceles, Avelino C.

    2016-01-01

    Introduction. Pulmonary arteriovenous malformations (PAVMs) have been associated with life-threatening complications, such as stroke and massive hemoptysis, thus posing significant morbidity if left untreated. We report a case of an incidental finding of a PAVM in a trauma patient newly recognized to have suspected hereditary hemorrhagic telangiectasia (HHT). Case Description. A 34-year-old man with a history of recurrent epistaxis presented with a sudden fall associated with seizure-like activity. Trauma imaging showed a large subdural hematoma and, incidentally, a serpiginous focus within the right upper lobe with a prominent feeding artery consistent with a PAVM. The patient was diagnosed with a simple PAVM related to possible or suspected HHT, an autosomal dominant trait with age-related penetrance. He underwent a pulmonary arteriography of the right upper and lower lobe with the use of a microcatheter system; however, the PAVM could not be visualized. Thus, he was managed medically. The patient was educated on the need for prophylactic antibiotics prior to dental procedures and surveillance imaging. Discussion. Our case highlights the importance of obtaining a complete past medical and family history in young patients with a history of recurrent epistaxis to elicit features of HHT. The diagnosis can be made clinically and directly affects family members, who would otherwise not receive appropriate screening. PMID:27027094

  5. [Stereotactically targeted radiotherapy of cerebral arteriovenous malformations].

    PubMed

    Kimmig, B; Engenhart, R; Wowra, B; Höver, K H; Marin-Grez, M; Sturm, V

    1989-09-01

    A report is given about radiotherapy in 41 patients suffering from cerebral vessel anomalies. A modified linear accelerator was used in a moving field technique with multiple pendulum planes to apply single doses between 8 and 28 Gy by means of stereotaxis into the angiographically determined target volume. The medium follow-up is 23 months. The latency of radiogenic effects is between one and two years. Radiological controls with an interval of more than 18 months after therapy are available in 17 out of 41 patients. Angiographic investigation showed complete obliterations of pathological vessels in six out of these patients and partial obliterations in six patients; five patients remained unchanged. There were no acute complications. Seven patients presented neurological deficiencies with a latency of 6 to 12 months, however, in all cases but one they regressed completely. Even taking into consideration the small number of patients and the short time of observation, a comparison with the results of other radiotherapeutical proceedings allows to draw the conclusion that the presented technique of stereotaxic convergent-beam irradiation represents a relatively simple, reliable and, in case of precise indication, efficient method for the therapy of cerebral arteriovenous malformations. PMID:2678547

  6. Stereotactic radiosurgery for intramedullary spinal arteriovenous malformations.

    PubMed

    Kalani, Maziyar A; Choudhri, Omar; Gibbs, Iris C; Soltys, Scott G; Adler, John R; Thompson, Patricia A; Tayag, Armine T; Samos, Cindy H; Chang, Steven D

    2016-07-01

    Spinal cord arteriovenous malformations (AVM) are rare lesions associated with recurrent hemorrhage and progressive ischemia. Occasionally a favorable location, size or vascular anatomy may allow management with endovascular embolization and/or microsurgical resection. For most, however, there is no good treatment option. Between 1997 and 2014, we treated 37 patients (19 females, 18 males, median age 30years) at our institution diagnosed with intramedullary spinal cord AVM (19 cervical, 12 thoracic, and six conus medullaris) with CyberKnife (Accuray, Sunnyvale, CA, USA) stereotactic radiosurgery. A history of hemorrhage was present in 50% of patients. The mean AVM volume of 2.3cc was treated with a mean marginal dose of 20.5Gy in a median of two sessions. Clinical and MRI follow-up were carried out annually, and spinal angiography was repeated at 3years. We report an overall obliteration rate of 19% without any post-treatment hemorrhagic events. In those AVM that did not undergo obliteration, significant volume reduction was noted at 3years. Although the treatment paradigm for spinal cord AVM continues to evolve, radiosurgical treatment is capable of safely obliterating or significantly shrinking most intramedullary spinal cord AVM. PMID:26869363

  7. Psychosocial adjustment and craniofacial malformations in childhood.

    PubMed

    Pertschuk, M J; Whitaker, L A

    1985-02-01

    Forty-three children between the ages of 6 and 13 years with congenital facial anomalies underwent psychosocial evaluation prior to surgery. Also evaluated were healthy children matched to the craniofacial subjects by sex, age, intelligence, and economic background. Relative to this comparison group, the craniofacial children were found to have poorer self-concept, greater anxiety at the time of evaluation, and more introversion. Parents of the craniofacial children noted more frequent negative social encounters for their children and more hyperactive behavior at home. Teachers reported more problematic classroom behavior. Examination of these results revealed craniofacial malformations to be associated with psychosocial limitations rather than marked deficits. These children tended to function less well than the comparison children, but with few exceptions, they were not functioning in a psychosocially deviant range. Explanations for the observed circumscribed impact of facial deformity include the use of denial as a coping mechanism, possible diminished significance of appearance for younger children, and the restricted environment experienced by most of the subjects. It can be predicted that time would render these protective influences ineffective, so that adolescent and young adult patients could be at far greater psychosocial risk. PMID:3969404

  8. Gastroesophageal reflux and congenital gastrointestinal malformations

    PubMed Central

    Marseglia, Lucia; Manti, Sara; D’Angelo, Gabriella; Gitto, Eloisa; Salpietro, Carmelo; Centorrino, Antonio; Scalfari, Gianfranco; Santoro, Giuseppe; Impellizzeri, Pietro; Romeo, Carmelo

    2015-01-01

    Although the outcome of newborns with surgical congenital diseases (e.g., diaphragmatic hernia; esophageal atresia; omphalocele; gastroschisis) has improved rapidly with recent advances in perinatal intensive care and surgery, infant survivors often require intensive treatment after birth, have prolonged hospitalizations, and, after discharge, may have long-term sequelae including gastro-intestinal comorbidities, above all, gastroesophageal reflux (GER). This condition involves the involuntary retrograde passage of gastric contents into the esophagus, with or without regurgitation or vomiting. It is a well-recognized condition, typical of infants, with an incidence of 85%, which usually resolves after physiological maturation of the lower esophageal sphincter and lengthening of the intra-abdominal esophagus, in the first few months after birth. Although the exact cause of abnormal esophageal function in congenital defects is not clearly understood, it has been hypothesized that common (increased intra-abdominal pressure after closure of the abdominal defect) and/or specific (e.g., motility disturbance of the upper gastrointestinal tract, damage of esophageal peristaltic pump) pathological mechanisms may play a role in the etiology of GER in patients with birth defects. Improvement of knowledge could positively impact the long-term prognosis of patients with surgical congenital diseases. The present manuscript provides a literature review focused on pathological and clinical characteristics of GER in patients who have undergone surgical treatment for congenital abdominal malformations. PMID:26229394

  9. Arteriovenous malformation of the vestibulocochlear nerve

    PubMed Central

    Tucker, Adam; Tsuji, Masao; Yamada, Yoshitaka; Hanabusa, Kenichiro; Ukita, Tohru; Miyake, Hiroji; Ohmura, Takehisa

    2015-01-01

    We describe a rare case of an arteriovenous malformation (AVM) embedded in the vestibulocochlear nerve presenting with subarachnoid hemorrhage (SAH) treated by microsurgical elimination of the main feeding artery and partial nidus volume reduction with no permanent deficits. This 70-year-old woman was incidentally diagnosed 4 years previously with two small unruptured tandem aneurysms (ANs) on the right anterior inferior cerebral artery feeding a small right cerebellopontine angle AVM. The patient was followed conservatively until she developed sudden headache, nausea and vomiting and presented to our outpatient clinic after several days. Magnetic resonance imaging demonstrated findings suggestive of early subacute SAH in the quadrigeminal cistern. A microsurgical flow reduction technique via clipping between the two ANs and partial electrocoagulation of the nidus buried within the eighth cranial nerve provided radiographical devascularization of the ANs with residual AVM shunt flow and no major deficits during the 2.5 year follow-up. This is only the second report of an auditory nerve AVM. In the event of recurrence, reoperation or application of alternative therapies may be considered. PMID:26244159

  10. Sports participation with Chiari I malformation.

    PubMed

    Strahle, Jennifer; Geh, Ndi; Selzer, Béla J; Bower, Regina; Himedan, Mai; Strahle, MaryKathryn; Wetjen, Nicholas M; Muraszko, Karin M; Garton, Hugh J L; Maher, Cormac O

    2016-04-01

    OBJECT There is currently no consensus on the safety of sports participation for patients with Chiari I malformation (CM-I). The authors' goal was to define the risk of sports participation for children with the imaging finding of CM-I. METHODS A prospective survey was administered to 503 CM-I patients at 2 sites over a 46-month period. Data were gathered on imaging characteristics, treatment, sports participation, and any sport-related injuries. Additionally, 81 patients completed at least 1 subsequent survey following their initial entry into the registry and were included in a prospective group, with a mean prospective follow-up period of 11 months. RESULTS Of the 503 CM-I patients, 328 participated in sports for a cumulative duration of 4641 seasons; 205 of these patients participated in contact sports. There were no serious or catastrophic neurological injuries. One patient had temporary extremity paresthesias that resolved within hours, and this was not definitely considered to be related to the CM-I. In the prospective cohort, there were no permanent neurological injuries. CONCLUSIONS No permanent or catastrophic neurological injuries were observed in CM-I patients participating in athletic activities. The authors believe that the risk of such injuries is low and that, in most cases, sports participation by children with CM-I is safe. PMID:26636249

  11. [Intracranial arteriovenous malformations in pregnant women].

    PubMed

    Perquin, D A; Kloet, A; Tans, J T; Witte, G N; Dörr, P J

    1999-03-01

    Three women, aged 27, 32 and 30 years, respectively, suffered from headache, nausea and neurological abnormalities and were found to have an intracranial arteriovenous malformation (AVM). One of them after diagnosis had two pregnancies, both ended by caesarean section with good results. Another woman was 32 weeks pregnant when the AVM manifested itself with a haemorrhage; she recovered well and was delivered by caesarean section. After the AVM proved radiologically to have been obliterated, she delivered after her subsequent pregnancy by the vaginal route with vacuum extraction. The third woman was 15 weeks pregnant when major abnormalities developed. There was a large intracerebral haematoma with break-through to the ventricular system; this patient died. Intracranial haemorrhage during pregnancy is rate. It can result in maternal and foetal morbidity and mortality. It appears that pregnancy does not increase the rate of first cerebral haemorrhage from an AVM. The management of AVM rupture during pregnancy should be based primarily on neurosurgical rather than on obstetric considerations. Close collaboration with a team of neurologists, neurosurgeons, obstetricians and anaesthesiologists is mandatory. PMID:10321255

  12. [Pyruvate dehydrogenase deficiency and cerebral malformations].

    PubMed

    Eirís, J; Alvarez-Moreno, A; Briones, P; Alonso-Alonso, C; Castro-Gago, M

    1996-10-01

    Pyruvate dehydrogenase (PDH) deficiency is a major cause of primary lactic acidosis and severe global developmental delay. A deficiency of PDH E1 alpha, a subunit of the PDH complex is a prominent cause of congenital lactic acidosis. The E1 alpha cDNA and corresponding genomic DNA have been located in the short arm of the X-chromosome (Xp22-1). A isolated 'cerebral' lactic acidosis with cerebral dysgenesis is a recognized pattern of presentation of PDH deficiency. Here, we report clinical features, magnetic resonance, and biochemical studies of two females aged 6 months (case 1) and 26 months (case 2). Both had severe development delay, minor dysmorphic features, microcephaly, severe hypoplasia of the corpus callosum, cerebral atrophy, ventricular dilatation and increase in serum lactate levels without systemic acidosis. Urinary organic acid profile was compatible with PDH deficiency. Increased CSF lactate and pyruvate levels and reduced total PDH and PDH E1 activities in muscle and fibroblasts were observed in case 1. Otherwise, decreased total PDH activity in muscle but not in fibroblasts was seen in case 2. The PDH E1á gene was sequenced in the case 1 and a deletion in exon 7 was demonstrated. Dysmorphism with severe cerebral malformations in female patients merits a metabolic evaluation, including determination of lactate and pyruvate levels in CSF. PMID:8983728

  13. Knowledge, Attitude and Practice of Ear Care in Coastal Karnataka

    PubMed Central

    Ganapathi, Keerthan; Kanthila, Jayashree

    2015-01-01

    Introduction Ear as an organ is necessary for the perception of sound and body balance. Ear infection, diabetes mellitus, hypertension and excessive use of mobile phone for listening to music at high volume all can reduce hearing. No earlier study was available in the costal Karnataka population, regarding the practice of ear care. The study objective was to ascertain the level of knowledge of the community regarding ear care, to find out whether some of the common conditions affecting hearing are known and to find out the common practices involved in maintaining ear hygiene. Materials and Methods This cross-sectional study was conducted on 500 subjects in two tertiary care hospitals by convenient sampling, using self-administered questionnaire. Knowledge, Attitude and Practice across the age groups, religion & education background were studied. Results Across different education groups, 66.7%-90% did not know that ‘cold’ can cause ear infection and 46.7%-75.0% did not know that diabetes and hypertension can reduce hearing. When there is ear pain or discharge, people put ear drops available at home in 48.3%-75.0% across 3 age groups; 58.5%-61.5% across 3 religions and 44.8%-67.9% across 5 education groups. No statistically significant difference was found in the practice of pouring oil into ears across religions. A total of 58.6%-100% daily clean inside the ear and 70-100% use cotton buds. Conclusion General perception of the people is that ear is necessary only for hearing. Majority did not know that nasal infection can affect the ear and that DM and hypertension can cause hearing loss. When there is ear pain and discharge, most of the adults put drops that are available at home. Pouring oil into the ears and cleaning inside the ear canals is routinely practiced in costal Karnataka. PMID:26816922

  14. Better-ear glimpsing in hearing-impaired listeners

    PubMed Central

    Best, Virginia; Mason, Christine R.; Kidd, Gerald; Iyer, Nandini; Brungart, Douglas S.

    2015-01-01

    When competing speech sounds are spatially separated, listeners can make use of the ear with the better target-to-masker ratio. Recent studies showed that listeners with normal hearing are able to efficiently make use of this “better-ear,” even when it alternates between left and right ears at different times in different frequency bands, which may contribute to the ability to listen in spatialized speech mixtures. In the present study, better-ear glimpsing in listeners with bilateral sensorineural hearing impairment, who perform poorly in spatialized speech mixtures, was investigated. The results suggest that this deficit is not related to better-ear glimpsing. PMID:25698053

  15. Treatment of Prominent Ears and Otoplasty: A Contemporary Review.

    PubMed

    Pawar, Sachin S; Koch, Cody A; Murakami, Craig

    2015-01-01

    Prominent ears affect approximately 5% of the population and can have a significant psychological impact on patients. A wide variety of otoplasty techniques have been described, all sharing the goal of re-creating the normal appearance of the ear and achieving symmetry between the 2 sides. Recent trends in otoplasty techniques have consistently moved toward less invasive options, ranging from nonsurgical newborn ear molding to cartilage-sparing surgical techniques and even incisionless, office-based procedures. Herein, we review anatomy of the external ear, patient evaluation, the evolution of nonsurgical and surgical otoplasty techniques, otoplasty outcomes, and future trends for treatment of prominent ears. PMID:26158729

  16. Estimation of outer-middle ear transmission using DPOAEs and fractional-order modeling of human middle ear

    NASA Astrophysics Data System (ADS)

    Naghibolhosseini, Maryam

    Our ability to hear depends primarily on sound waves traveling through the outer and middle ear toward the inner ear. Hence, the characteristics of the outer and middle ear affect sound transmission to/from the inner ear. The role of the middle and outer ear in sound transmission is particularly important for otoacoustic emissions (OAEs), which are sound signals generated in a healthy cochlea, and recorded by a sensitive microphone placed in the ear canal. OAEs are used to evaluate the health and function of the cochlea; however, they are also affected by outer and middle ear characteristics. To better assess cochlear health using OAEs, it is critical to quantify the impact of the outer and middle ear on sound transmission. The reported research introduces a noninvasive approach to estimate outer-middle ear transmission using distortion product otoacoustic emissions (DPOAEs). In addition, the role of the outer and middle ear on sound transmission was investigated by developing a physical/mathematical model, which employed fractional-order lumped elements to include the viscoelastic characteristics of biological tissues. Impedance estimations from wideband refectance measurements were used for parameter fitting of the model. The model was validated comparing its estimates of the outer-middle ear sound transmission with those given by DPOAEs. The outer-middle ear transmission by the model was defined as the sum of forward and reverse outer-middle ear transmissions. To estimate the reverse transmission by the model, the probe-microphone impedance was calculated through estimating the Thevenin-equivalent circuit of the probe-microphone. The Thevenin-equivalent circuit was calculated using measurements in a number of test cavities. Such modeling enhances our understanding of the roles of different parts of the outer and middle ear and how they work together to determine their function. In addition, the model would be potentially helpful in diagnosing pathologies of

  17. Subarachnoid space: middle ear pathways and recurrent meningitis.

    PubMed

    Barcz, D V; Wood, R P; Stears, J; Jafek, B W; Shields, M

    1985-03-01

    Congenital bony abnormalities of the inner ear may result in a communication between the middle ear and the subarachnoid space. Patients with this anomaly often present with recurrent meningitis associated with acute otitis media or with middle ear fluid. This article presents three cases of recurrent meningitis with open middle ear--subarachnoid space connections. The first two cases involve a cerebrospinal fluid leak into the middle ear via the oval window, both patients having a Mondini-type of inner ear deformity. The pathway in the third case opened into the middle ear along the horizontal portion of the facial nerve. Computed tomography (CT) scanning with metrizamide and differential density calculations helped to identify the abnormal pathway and to confirm that the leak has been closed postoperatively. Use of the CT scanner in these cases can be helpful in planning the surgical closure and in postoperative follow-up. PMID:4039111

  18. Effect of anesthetic gas on middle ear fluid.

    PubMed

    Tom, L W; Tsao, F; Marsh, R R; Kessler, A; Konkle, D F

    1994-07-01

    Tympanometry was performed before (preoperative) and after (intraoperative) the administration of inhalation anesthesia including nitrous oxide and halothane on 109 children undergoing myringotomy with pressure equalization tube insertion. A total of 213 preoperative tympanograms were compared with their intraoperative counterparts and the presence or absence of middle ear effusion at myringotomy. When preoperative tympanograms were consistent with pneumatized middle ears, intraoperative findings demonstrated a mean middle ear pressure increase of +147 daPa. When preoperative tympanometry suggested middle ear effusion, less than 1% demonstrated intraoperative tympanometric changes and/or findings at surgery that would support anesthesia clearing middle ear effusion. Preoperative tympanometric data were poor predictors of the presence or absence of effusion at myringotomy. The relationship between inhalation anesthetics (i.e., nitrous oxide and halothane) and middle ear fluids, and the reliability of tympanometry to predict middle ear effusion are discussed. PMID:8022245

  19. Structures that Contribute to Middle-Ear Admittance in Chinchilla

    PubMed Central

    Rosowski, John J.; Ravicz, Michael E.; Songer, Jocelyn E.

    2009-01-01

    We describe measurements of middle-ear input admittance in chinchillas (Chinchilla lanigera) before and after various manipulations that define the contributions of different middle-ear components to function. The chinchilla’s middle-ear air spaces have a large effect on the low-frequency compliance of the middle ear, and removing the influences of these spaces reveals a highly admittant tympanic membrane and ossicular chain. Measurements of the admittance of the air spaces reveal that the high-degree of segmentation of these spaces has only a small effect on the admittance. Draining the cochlea further increases the middle-ear admittance at low frequencies and removes a low-frequency (less than 300 Hz) level dependence in the admittance. Spontaneous or sound-driven contractions of the middle-ear muscles in deeply anesthetized animals were associated with significant changes in middle-ear admittance. PMID:16944166

  20. Repeat radiosurgery for cerebral arteriovenous malformations.

    PubMed

    Awad, Ahmed J; Walcott, Brian P; Stapleton, Christopher J; Ding, Dale; Lee, Cheng-Chia; Loeffler, Jay S

    2015-06-01

    We perform a systematic review of repeat radiosurgery for cerebral arteriovenous malformations (AVM) with an emphasis on lesion obliteration rates and complications. Radiosurgery is an accepted treatment modality for AVM located in eloquent cortex or deep brain structures. For residual or persistent lesions, repeat radiosurgery can be considered if sufficient time has passed to allow for a full appreciation of treatment effects, usually at least 3years. A systematic review was performed in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. References for this review were identified by searches of MEDLINE, Web of Science and Google Scholar databases. A total of 14 studies comprising 733 patients met the review criteria and were included. For series that reported target dose at both first and repeat treatments, the weighted means were 19.42Gy and 19.06Gy, respectively. The mean and median obliteration rate for the repeat radiosurgery treatments were 61% (95% confidence interval 51.9-71.7%) and 61.5%, respectively. The median follow up following radiosurgery ranged from 19.5 to 80months. Time to complete obliteration after the repeat treatment ranged from 21 to 40.8months. The most common complications of repeat radiosurgery for AVM included hemorrhage (7.6%) and radiation-induced changes (7.4%). Repeat radiosurgery can be used to treat incompletely obliterated AVM with an obliteration rate of 61%. Complications are related to treatment effect latency (hemorrhage risk) as well as radiation-induced changes. Repeat radiosurgery can be performed at 3 years following the initial treatment, allowing for full realization of effects from the initial treatment prior to commencing therapy. PMID:25913746

  1. Ewing Sarcoma of the External Ear Canal.

    PubMed

    Binnetoglu, Adem; Baglam, Tekin; Tokuc, Gulnur; Kecelioglu Binnetoglu, Kiymet; Gerin, Fatma; Sari, Murat

    2016-01-01

    Background. Ewing sarcoma (ES) is a high-grade malignant tumor that has skeletal and extraskeletal forms and consists of small round cells. In the head and neck region, reported localization of extraskeletal ES includes the larynx, thyroid gland, submandibular gland, nasal fossa, pharynx, skin, and parotid gland, but not the external ear canal. Methods. We present the unique case of a 2-year-old boy with extraskeletal ES arising from the external ear canal, mimicking auricular hematoma. Results. Surgery was performed and a VAC/IE (vincristine, adriamycin, cyclophosphamide alternating with ifosfamide, and etoposide) regimen was used for adjuvant chemotherapy for 12 months. Conclusion. The clinician should consider extraskeletal ES when diagnosing tumors localized in the head and neck region because it may be manifested by a nonspecific clinical picture mimicking common otorhinolaryngologic disorders. PMID:27313930

  2. Ewing Sarcoma of the External Ear Canal

    PubMed Central

    Kecelioglu Binnetoglu, Kiymet; Gerin, Fatma; Sari, Murat

    2016-01-01

    Background. Ewing sarcoma (ES) is a high-grade malignant tumor that has skeletal and extraskeletal forms and consists of small round cells. In the head and neck region, reported localization of extraskeletal ES includes the larynx, thyroid gland, submandibular gland, nasal fossa, pharynx, skin, and parotid gland, but not the external ear canal. Methods. We present the unique case of a 2-year-old boy with extraskeletal ES arising from the external ear canal, mimicking auricular hematoma. Results. Surgery was performed and a VAC/IE (vincristine, adriamycin, cyclophosphamide alternating with ifosfamide, and etoposide) regimen was used for adjuvant chemotherapy for 12 months. Conclusion. The clinician should consider extraskeletal ES when diagnosing tumors localized in the head and neck region because it may be manifested by a nonspecific clinical picture mimicking common otorhinolaryngologic disorders. PMID:27313930

  3. An Ear-Worn Vital Signs Monitor.

    PubMed

    He, David Da; Winokur, Eric S; Sodini, Charles G

    2015-11-01

    This paper presents a wearable vital signs monitor at the ear. The monitor measures the electrocardiogram (ECG), ballistocardiogram (BCG), and photoplethysmogram (PPG) to obtain pre-ejection period (PEP), stroke volume (SV), cardiac output (CO), and pulse transit time (PTT). The ear is demonstrated as a natural anchoring point for the integrated sensing of physiological signals. All three signals measured can be used to obtain heart rate (HR). Combining the ECG and BCG allows for the estimation of the PEP, while combining the BCG and PPG allows for the measurement of PTT. Additionally, the J-wave amplitude of the BCG is correlated with the SV and, when combined with HR, yields CO. Results from a clinical human study on 13 subjects demonstrate this proof-of-concept device. PMID:26208264

  4. The inner ear and the neurologist

    PubMed Central

    Agrup, Charlotte; Gleeson, Michael; Rudge, Peter

    2007-01-01

    Inner ear disorders are common and patients with vestibular failure often present to a neurology clinic because of their dizziness, gait unsteadiness and oscillopsia. Vestibular disorders can be divided into peripheral and central vestibular disorders. Most of the peripheral vestibular disorders have a clinical diagnosis, and a thorough history and examination will often provide a clear direction as to the diagnosis. Correct diagnosis allows treatment for many of the peripheral and central vestibular disorders. As inner ear damage is generally irreversible, early diagnosis allowing prompt treatment is important. The aim of this review is to discuss some audiovestibular conditions that may well appear in a neurology clinic, and to discuss some recent advances within the audiovestibular field that may be of interest to neurologists. Some of the most common audiovestibular conditions will be discussed along side more uncommon conditions. PMID:17229743

  5. Diseases of the middle ear in childhood

    PubMed Central

    Minovi, Amir; Dazert, Stefan

    2014-01-01

    Middle ear diseases in childhood play an important role in daily ENT practice due to their high incidence. Some of these like acute otitis media or otitis media with effusion have been studied extensively within the last decades. In this article, we present a selection of important childhood middle ear diseases and discuss the actual literature concerning their treatment, management of complications and outcome. Another main topic of this paper deals with the possibilities of surgical hearing rehabilitation in childhood. The bone-anchored hearing aid BAHA® and the active partially implantable device Vibrant Soundbridge® could successfully be applied for children. In this manuscript, we discuss the actual literature concerning clinical outcomes of these implantable hearing aids. PMID:25587371

  6. Morphology of the seagull's inner ear.

    PubMed

    Counter, S A; Tsao, P

    1986-01-01

    The morphology of the seagull ear was investigated and found to be generally similar to that of other Aves. Several specific outer middle and inner ear features were found to be sufficiently different as to be remarkable. Most notably, the dual membranes of the external auditory meatus: one, a collecting (and possibly amplifying and reflecting) parabolic membrane chamber situated immediately anterior to the slightly deeper tympanic membrane. The convex tympanic membrane attaches a cartilagenous extracolumella and a thick osseous columella, which is less thin and fragile than that observed in domestic fowl of comparable body size. The columella footplate and round window are completely covered with a second middle ear membrane which apparently serves as an H2O seal and hydrostatic pressure matcher. The short, hard seagull cochlea houses an elaborate basilar papilla which contains thousands of short and tall hair cells, each with a systematic arrangement of stereocilia bundles. In the seagull, the length of the basilar papilla and the length, width, and number of stereocilia, features which affect the transduction process and frequency resolution, are different from those reported for certain other Aves. PMID:3962648

  7. The glue ear 'epidemic': a historical perspective.

    PubMed

    Alderson, David

    2011-12-01

    This paper explores the historical context of the dramatic rise in surgery for glue ear in the mid-20th century, and questions the published assertion that this represented a manufactured 'epidemic'. In examining historical sources, the reader's theoretical viewpoint greatly influences their conclusions: the sustained rise in treatment for glue ear may be seen as the advance of science in a golden age or the resistance of insular professionals to reason in the light of new scientific study methods. Current views on the practice of medicine, consumerism, science and standardisation, rationing and the nature of 'truth' all affect the way that we see this period. Technological advances clearly allowed better diagnosis and more effective treatment, but these did not appear to drive an 'epidemic', rather they were developed to meet the pre-existing challenges of otological practice. The proposition that an 'epidemic' was created does not appear to have any solid grounding. Society's perception of what constitutes disease and what needs treatment may have evolved, but the prevalence of other important diseases changed dramatically over this time period, and a real change in the epidemiology of glue ear cannot be dismissed. In defining the case for and against surgical treatment, a solely positivist, quantitative worldview cannot give us a complete picture of benefit and risk to individuals, families and society at large. PMID:21653931

  8. Ear recognition from one sample per person.

    PubMed

    Chen, Long; Mu, Zhichun; Zhang, Baoqing; Zhang, Yi

    2015-01-01

    Biometrics has the advantages of efficiency and convenience in identity authentication. As one of the most promising biometric-based methods, ear recognition has received broad attention and research. Previous studies have achieved remarkable performance with multiple samples per person (MSPP) in the gallery. However, most conventional methods are insufficient when there is only one sample per person (OSPP) available in the gallery. To solve the OSPP problem by maximizing the use of a single sample, this paper proposes a hybrid multi-keypoint descriptor sparse representation-based classification (MKD-SRC) ear recognition approach based on 2D and 3D information. Because most 3D sensors capture 3D data accessorizing the corresponding 2D data, it is sensible to use both types of information. First, the ear region is extracted from the profile. Second, keypoints are detected and described for both the 2D texture image and 3D range image. Then, the hybrid MKD-SRC algorithm is used to complete the recognition with only OSPP in the gallery. Experimental results on a benchmark dataset have demonstrated the feasibility and effectiveness of the proposed method in resolving the OSPP problem. A Rank-one recognition rate of 96.4% is achieved for a gallery of 415 subjects, and the time involved in the computation is satisfactory compared to conventional methods. PMID:26024226

  9. Ear Recognition from One Sample Per Person

    PubMed Central

    Chen, Long; Mu, Zhichun; Zhang, Baoqing; Zhang, Yi

    2015-01-01

    Biometrics has the advantages of efficiency and convenience in identity authentication. As one of the most promising biometric-based methods, ear recognition has received broad attention and research. Previous studies have achieved remarkable performance with multiple samples per person (MSPP) in the gallery. However, most conventional methods are insufficient when there is only one sample per person (OSPP) available in the gallery. To solve the OSPP problem by maximizing the use of a single sample, this paper proposes a hybrid multi-keypoint descriptor sparse representation-based classification (MKD-SRC) ear recognition approach based on 2D and 3D information. Because most 3D sensors capture 3D data accessorizing the corresponding 2D data, it is sensible to use both types of information. First, the ear region is extracted from the profile. Second, keypoints are detected and described for both the 2D texture image and 3D range image. Then, the hybrid MKD-SRC algorithm is used to complete the recognition with only OSPP in the gallery. Experimental results on a benchmark dataset have demonstrated the feasibility and effectiveness of the proposed method in resolving the OSPP problem. A Rank-one recognition rate of 96.4% is achieved for a gallery of 415 subjects, and the time involved in the computation is satisfactory compared to conventional methods. PMID:26024226

  10. Analytical model of internally coupled ears.

    PubMed

    Vossen, Christine; Christensen-Dalsgaard, Jakob; van Hemmen, J Leo

    2010-08-01

    Lizards and many birds possess a specialized hearing mechanism: internally coupled ears where the tympanic membranes connect through a large mouth cavity so that the vibrations of the tympanic membranes influence each other. This coupling enhances the phase differences and creates amplitude differences in the tympanic membrane vibrations. Both cues show strong directionality. The work presented herein sets out the derivation of a three dimensional analytical model of internally coupled ears that allows for calculation of a complete vibration profile of the membranes. The analytical model additionally provides the opportunity to incorporate the effect of the asymmetrically attached columella, which leads to the activation of higher membrane vibration modes. Incorporating this effect, the analytical model can explain measurements taken from the tympanic membrane of a living lizard, for example, data demonstrating an asymmetrical spatial pattern of membrane vibration. As the analytical calculations show, the internally coupled ears increase the directional response, appearing in large directional internal amplitude differences (iAD) and in large internal time differences (iTD). Numerical simulations of the eigenfunctions in an exemplary, realistically reconstructed mouth cavity further estimate the effects of its complex geometry. PMID:20707461

  11. Pathology of ear hematomas in swine.

    PubMed

    Drolet, Richard; Hélie, Pierre; D'Allaire, Sylvie

    2016-05-01

    The objectives of our study were to describe the pathology of ear hematomas in swine and to add to the comprehension of the pathogenesis of this condition. The pathogenesis of aural hematomas has been studied mainly in dogs; however, disagreements exist about the precise anatomic location of the hemorrhage. Sixteen pigs with ear hematoma at various stages of development were included in this study. The pigs were submitted for routine autopsy for various and unrelated reasons over a period of several years. Based on gross examination, the 16 cases of aural hematomas were subjectively classified as acute (n = 6), subacute (n = 3), and chronic (n = 7). The age of the animals at the time of autopsy ranged from 2 weeks to adulthood, with all acute cases being <7 weeks of age. Morphologic examination of all acute cases revealed that the hematoma developed predominantly in a subperichondral location on both sides of the cartilaginous plate simultaneously. Within these same cases, there were also some areas in which blood-filled clefts had formed within the cartilage itself. Besides fibroplasia, neoformation of cartilage was found to represent a significant part of the repair process. All chronic cases were characterized on cross-section of the ear by the presence of at least 2 distinct, wavy, focally folded, and roughly parallel plates of cartilage separated from each other by fibrous tissue. PMID:27034341

  12. Rabbit's ear in cold acclimation studied on the change in ear temperature.

    PubMed

    Harada, E; Kanno, T

    1975-03-01

    The role of the rabbit's ear in cold acclimation was studied by varying the temperature of a climatic room in the range from -10 to +30 degrees C; The skin temperature in a nonanesthetized rabbit's ear showed a characteristic response to changes in ambient temperatures; plotting the ear temperature against the ambient temperature yielded an S-shaped curve. The mean ambient temperature corresponding to the inflection point on the S-shaped curve shifted significantly from about 13 degrees C to about 8 degrees C after cold acclimated of a group fed for 7 wk at -10 degrees C. The shift of the S-shaped curve after cold acclimation may not be due to the change in the norepinephrine sensitivity of the vascular beds of the ear: the effect of norepinephrine on the pressure-flow curve in the isolated rabbit's ear was almost unchanged between the control and the cold-acclimated groups. It is proposed that the shift of the inflection point gives a qualitative index of the acclimated state of the rabbit at a particular temperature. PMID:1150550

  13. Predicting skin deficits through surface area measurements in ear reconstruction and adult ear surface area norms.

    PubMed

    Yazar, Memet; Sevim, Kamuran Zeynep; Irmak, Fatih; Yazar, Sevgi Kurt; Yeşilada, Ayşin Karasoy; Karşidağğ, Semra Hacikerim; Tatlidede, Hamit Soner

    2013-07-01

    Ear reconstruction is one of the most challenging procedures in plastic surgery practice. Many studies and techniques have been described in the literature for carving a well-pronounced framework. However, just as important as the cartilage framework is the ample amount of delicate skin coverage of the framework. In this report, we introduce an innovative method of measuring the skin surface area of the auricle from a three-dimensional template created from the healthy ear.The study group consisted of 60 adult Turkish individuals who were randomly selected (30 men and 30 women). The participant ages ranged from 18 to 45 years (mean, 31.5 years), and they had no history of trauma or congenital anomalies. The template is created by dividing the ear into aesthetic subunits and using ImageJ software to estimate the necessary amount of total skin surface area required.Reconstruction of the auricle is a complicated process that requires experience and patience to provide the auricular details. We believe this estimate will shorten the learning curve for residents and surgeons interested in ear reconstruction and will help surgeons obtain adequate skin to drape over the well-sculpted cartilage frameworks by providing a reference list of total ear skin surface area measurements for Turkish men and women. PMID:23851770

  14. Do Swiftlets have an ear for echolocation? The functional morphology of Swiftlets' middle ears.

    PubMed

    Thomassen, Henri A; Gea, Stefan; Maas, Steve; Bout, Ron G; Dirckx, Joris J J; Decraemer, Willem F; Povel, G David E

    2007-03-01

    The Oilbird and many Swiftlet species are unique among birds for their ability to echolocate. Echolocaters may benefit from improved hearing sensitivity. Therefore, morphological adaptations to echolocation might be present in echolocating birds' middle ears. We studied the functional morphology of the tympano-ossicular chain of seven specimens of four echolocating Swiftlet species and one specimen each of five non-echolocating species. Three dimensional (3D) reconstructions were made from micro-Computer-Tomographic (muCT) scans. The reconstructions were used in functional morphological analyses and model calculations. A two dimensional (2D) rigid rod model with fixed rotational axes was developed to study footplate output-amplitudes and to describe how changes in the arrangement of the tympano-ossicular chain affect its function. A 3D finite element model was used to predict ossicular-chain movement and to investigate the justification of the 2D approach. No morphological adaptations towards echolocation were found in the middle-ear lever system or in the mass impedance of the middle ear. A wide range of middle-ear configurations result in maximum output-amplitudes and all investigated species are congruent with these predicted best configurations. Echolocation is unlikely to depend on adaptations in the middle ear tympano-ossicular chain. PMID:17229537

  15. Anorectal malformations caused by defects in sonic hedgehog signaling.

    PubMed

    Mo, R; Kim, J H; Zhang, J; Chiang, C; Hui, C C; Kim, P C

    2001-08-01

    Anorectal malformations are a common clinical problem affecting the development of the distal hindgut in infants. The spectrum of anorectal malformations ranges from the mildly stenotic anus to imperforate anus with a fistula between the urinary and intestinal tracts to the most severe form, persistent cloaca. The etiology, embryology, and pathogenesis of anorectal malformations are poorly understood and controversial. Sonic hedgehog (Shh) is an endoderm-derived signaling molecule that induces mesodermal gene expression in the chick hindgut. However, the role of Shh signaling in mammalian hindgut development is unknown. Here, we show that mutant mice with various defects in the Shh signaling pathway exhibit a spectrum of distal hindgut defects mimicking human anorectal malformations. Shh null-mutant mice display persistent cloaca. Mutant mice lacking Gli2 or Gli3, two zinc finger transcription factors involved in Shh signaling, respectively, exhibit imperforate anus with recto-urethral fistula and anal stenosis. Furthermore, persistent cloaca is also observed in Gli2(-/-);Gli3(+/-), Gli2(+/-);Gli3(-/-), and Gli2(-/-);Gli3(-/-) mice demonstrating a gene dose-dependent effect. Therefore, Shh signaling is essential for normal development of the distal hindgut in mice and mutations affecting Shh signaling produce a spectrum of anorectal malformations that may reveal new insights into their human disease equivalents. PMID:11485934

  16. Anorectal Malformations Caused by Defects in Sonic Hedgehog Signaling

    PubMed Central

    Mo, Rong; Kim, Jae Hong; Zhang, Jianrong; Chiang, Chin; Hui, Chi-chung; Kim, Peter C. W.

    2001-01-01

    Anorectal malformations are a common clinical problem affecting the development of the distal hindgut in infants. The spectrum of anorectal malformations ranges from the mildly stenotic anus to imperforate anus with a fistula between the urinary and intestinal tracts to the most severe form, persistent cloaca. The etiology, embryology, and pathogenesis of anorectal malformations are poorly understood and controversial. Sonic hedgehog (Shh) is an endoderm-derived signaling molecule that induces mesodermal gene expression in the chick hindgut. However, the role of Shh signaling in mammalian hindgut development is unknown. Here, we show that mutant mice with various defects in the Shh signaling pathway exhibit a spectrum of distal hindgut defects mimicking human anorectal malformations. Shh null-mutant mice display persistent cloaca. Mutant mice lacking Gli2 or Gli3, two zinc finger transcription factors involved in Shh signaling, respectively, exhibit imperforate anus with recto-urethral fistula and anal stenosis. Furthermore, persistent cloaca is also observed in Gli2−/−;Gli3+/−, Gli2+/−;Gli3−/−, and Gli2−/−;Gli3−/− mice demonstrating a gene dose-dependent effect. Therefore, Shh signaling is essential for normal development of the distal hindgut in mice and mutations affecting Shh signaling produce a spectrum of anorectal malformations that may reveal new insights into their human disease equivalents. PMID:11485934

  17. Defining anural malformations in the context of a developmental problem

    USGS Publications Warehouse

    Meteyer, C.U.; Cole, R.A.; Converse, K.A.; Docherty, D.E.; Wolcott, M.; Helgen, J.C.; Levey, R.; Eaton-Poole, L.; Burkhart, J.G.

    2000-01-01

    This paper summarizes terminology and general concepts involved in animal development for the purpose of providing background for the study and understanding of frog malformations. The results of our radiographic investigation of rear limb malformations in Rana pipiens provide evidence that frog malformations are the product of early developmental errors. Although bacteria, parasites and viruses were identified in these metamorphosed frogs, the relevant window to look for the teratogenic effect of these agents is in the early tadpole stage during limb development. As a result, our microbiological findings must be regarded as inconclusive relative to determining their contribution to malformations because we conducted our examinations on metamorphosed frogs not tadpoles. Future studies need to look at teratogenic agents (chemical, microbial, physical or mechanical) that are present in the embryo, tadpole, and their environments at the stages of development that are relevant for the malformation type. The impact of these teratogenic agents then needs to be assessed in appropriate animal models using studies that are designed to mimic field conditions. The results of these laboratory tests should then be analyzed in such a way that will allow comparison with the findings in the wild-caught tadpoles and frogs.

  18. Local Model of Arteriovenous Malformation of the Human Brain

    NASA Astrophysics Data System (ADS)

    Nadezhda Telegina, Ms; Aleksandr Chupakhin, Mr; Aleksandr Cherevko, Mr

    2013-02-01

    Vascular diseases of the human brain are one of the reasons of deaths and people's incapacitation not only in Russia, but also in the world. The danger of an arteriovenous malformation (AVM) is in premature rupture of pathological vessels of an AVM which may cause haemorrhage. Long-term prognosis without surgical treatment is unfavorable. The reduced impact method of AVM treatment is embolization of a malformation which often results in complete obliteration of an AVM. Pre-surgical mathematical modeling of an arteriovenous malformation can help surgeons with an optimal sequence of the operation. During investigations, the simple mathematical model of arteriovenous malformation is developed and calculated, and stationary and non-stationary processes of its embolization are considered. Various sequences of embolization of a malformation are also considered. Calculations were done with approximate steady flow on the basis of balanced equations derived from conservation laws. Depending on pressure difference, a fistula-type AVM should be embolized at first, and then small racemose AVMs are embolized. Obtained results are in good correspondence with neurosurgical AVM practice.

  19. High Temporal and Spatial Resolution Imaging of Peripheral Vascular Malformations

    PubMed Central

    Mostardi, Petrice M.; Young, Phillip M.; McKusick, Michael A.; Riederer, Stephen J.

    2013-01-01

    Purpose To assess the performance of a recently developed 3D time-resolved CE-MRA technique, Cartesian Acquisition with Projection-Reconstruction-like sampling (CAPR), for accurate characterization and treatment planning of vascular malformations of the periphery. Materials and Methods Twelve patient studies were performed (eight female, four male; average age, 33 years). The protocol consisted of three-dimensional (3D) time-resolved CE-MRA followed by a single late phase T1-weighted acquisition. Vascular malformations were imaged in the forearm, hand, thigh, and foot. Imaging evaluation was performed for accurate characterization of lesion type, identification of feeding and draining vessels, involvement with surrounding tissue, overall quality for diagnosis and treatment planning, and correlation with conventional angiography. Results Time-resolved CE-MRA allowed for characterization of malformation flow and type. Feeding and draining vessels were identified in all cases. Overall quality for diagnosis and treatment planning was 3.58/4.0, and correlation with conventional angiography was scored as 3.89/4.0. Conclusion The CAPR time series has been shown to portray the temporal dynamics and structure of vascular malformations as well as the normal vasculature with high quality. CAPR time-resolved imaging is able to accurately characterize high and low flow lesions, allowing for pretreatment lesion assessment and treatment planning. Delayed imaging is important to capture complete filling of very slow flow vascular malformations. PMID:22674646

  20. Sporadic Multifocal Venous Malformations of the Head and Neck

    PubMed Central

    Amato, Michael V.; Patel, Neha A.; Hu, Shirley; Pantelides, Harry

    2015-01-01

    Objective. To report a case of unusually widespread sporadic venous malformations of the head and neck associated with normal D-dimer levels and, due to the protean clinical manifestations and increased risk of coagulopathy of these lesions, to review their diagnosis and clinical management. Case Report. A 25-year-old man presented with a one-year history of intermittent right-sided neck swelling and tongue swelling. Physical exam revealed additional lesions present throughout the head and neck. There was no family history suggestive of heritable vascular malformations. Radiographic imaging demonstrated 15 lesions located in various tissue layers consistent with venous malformations. A coagulation screen showed a normal prothrombin time, activated partial thromboplastin time, international normalized ratio, D-dimer level, and fibrinogen level. It was determined that the patient was not at increased risk for intraoperative coagulopathy and preoperative heparin administration would not be necessary. The patient's buccal and tongue lesions were subsequently excised with no complications. The patient also underwent sclerotherapy evaluation for his neck mass. Conclusion. This case describes a unique presentation of sporadic multifocal venous malformations. It also emphasizes the importance of prompt diagnosis and workup when multiple venous malformations are present to prevent morbidity during surgical excision secondary to intravascular coagulopathy. PMID:26483982

  1. Endoscopic Ear Surgery: Critical Review of Anatomy and Physiology of Normal and Reconstructive Middle Ear.

    PubMed

    Udagatti, Vithal D; Dinesh Kumar, Rajendran

    2016-06-01

    Middle ear anatomy is complex hence it is difficult to study the microscopic vibration of tympanic membrane and ossicles. The basic research has been done in few centres. Our experience is based on clinical data. The lack of quantitative understanding of structural and functional relationship in the mechanical response of the normal and reconstructed middle ear is major factor in poor hearing results after surgery (Merchant et al. in J Laryngol Otol 112:715-731, 1998). The vibration pattern of tympanic membrane changes with different frequencies. It depends upon shape, position and tension of tympanic membrane. Sometimes reconstructed tympanic membrane loses its shape and tension and thus its vibratory response (Pusalkar and Steinbach in Transplants and implants in otology II, 1992). Then what should be the shape, position, tension of the tympanic membrane and the ossicles. In order to have a serviceable hearing, dry and safe ear, there is a necessity of answering all these queries by us. PMID:27340629

  2. Spinal arteriovenous malformations: Is surgery indicated?

    PubMed Central

    Singh, Bikramjit; Behari, Sanjay; Jaiswal, Awadhesh K.; Sahu, Rabi Narayan; Mehrotra, Anant; Mohan, B. Madan; Phadke, Rajendra V.

    2016-01-01

    Purpose: To identify clinico-radiological distinguishing features in various types of spinal arteriovenous malformations (AVM) with an aim to define the role of surgical intervention. Materials and Methods: Hero's modified Di Chiro classification differentiated four types of spinal AVMs on digital subtraction angiogram (DSA) in 74 patients: I. Dural arteriovenous fistulae (n = 35, 47.3%); II. Glomus/intramedullary (n = 13, 17.6%); III. Juvenile/metameric (n = 4, 5.4%); and, IV. Ventral perimedullary fistula (n = 21, 28.4%). A patient with extradural AVM remained unclassified. Demographic profiles, DSA features and reason for surgical referral were recorded. Statistical comparison of discrete variables like gender, spinal cord level, presentation and outcome was made using Chi-square test; and, continuous variables like age, feeder number, duration of symptoms and number of staged embolizations by one way analysis of variance with Boneferoni post hoc comparison. Embolization alone (n = 39, 52.7%), surgery alone (n = 16, 21.6%), and combined approach (n = 4, 5.4%) were the treatments offered (15 were treated elsewhere). Results: Type I-AVM occurred in significantly older population than other types (P = 0.01). Mean duration of symptoms was 13.18 ± 12.8 months. Thoracic cord involvement predominated in type-I and III AVMs (P = 0.01). Number of feeding arteries were 1 in 59.7%; 2 in 29.0%; and, multiple in 11.3% patients, respectively. Staged embolization procedures in type-III AVM were significant (P < 0.01). Surgical referral was required due to: Vessel tortuosity/insufficient parent vessel caliber (n = 7); residual AVM (n = 4); low flow AVM (n = 3); and, multiple feeders (n = 2). Check DSA (n = 34) revealed complete AVM obliteration in 26 and minor residual lesion in eight patients. Neurological status improved in 26 and stabilized in 25 patients. Conclusions: Differentiating between Type I-IV AVMs has a significant bearing on their management. Surgical

  3. An Unusual Cause of Dysphagia: A Large Expectorated Arteriovenous Malformation

    PubMed Central

    Griffin, Aaron S.; Gunasena, Rivindi; Schaefer, Nathan R.; Kennedy, Edmund

    2015-01-01

    Background Vascular malformations are generally detected in childhood or adolescence with first presentations in adulthood being rare. Case Report We report the case of a 52-year-old female with threatened compromise of her airway after expectorating a massive arteriovenous malformation anchored at the supraglottis. The only preceding symptom was dysphagia. The lesion was resected, the patient had a quick recovery, and she has shown no evidence of recurrence. Conclusion Although uncommon, vascular malformations of the supraglottis or hypopharynx should be considered in the differential diagnosis of a patient presenting with dysphagia because of the potential to cause disastrous airway compromise. Although a lesion presenting acutely mandates a definitive airway plan, when clinically possible, computed tomography scan and indirect laryngoscopy can provide useful information for the airway and operative teams. PMID:26130989

  4. Pediatric intraoral high-flow arteriovenous malformation: a diagnostic challenge.

    PubMed

    Petel, Roy; Ashkenazi, Malka

    2014-01-01

    Arteriovenous malformations (AVMs) are rarely reported in the dental pediatric literature. They may develop adjacent to primary molars and can be life-threatening due to their potential for massive bleeding. The most common symptom associated with documented cases of AVMs is spontaneous gingival bleeding. Other clinical signs include pain, erythematous gingiva, resorption and mobility of teeth, soft tissue discoloration, facial swelling, and asymmetry. Radiographically, AVMs are osteolytic lesions. The purpose of this report was to describe the challenge of diagnosis of a high-flow arteriovenous malformation located in the primary maxillary molar region, which was misdiagnosed as a dentoalveolar abscess adjacent to previously treated primary molars. A decision to extract a tooth with gingival swelling and associated spontaneous bleeding should be made after the differential diagnosis of a vascular malformation has been ruled out. PMID:25303512

  5. Arteriovenous malformation of the filum terminale: an exceptional case.

    PubMed

    Troude, Lucas; Melot, Anthony; Brunel, Hervé; Roche, Pierre-Hugues

    2016-06-01

    Arteriovenous malformations (AVMs) of the spine display a variety of different locations, angioarchitectures, and clinical presentations. The authors describe an exceptional case of a filum terminale AVM that is not described in any classification and discuss the origin and management of this malformation. A 59-year-old woman was admitted in June 2012 for cauda equina syndrome. Magnetic resonance imaging and spinal angiography revealed an AVM of the filum terminale, located below the conus medullaris, fed by the anterior spinal artery. After an unsuccessful attempt to reach the nidus with a microcatheter, the AVM was resected. At 20 months after surgery, the patient was fully independent and radiological images confirmed the exclusion of the malformation. AVMs that originate from the filum terminale are exceptional. According to updated classifications, AVMs of the filum terminale should be categorized as a separate entity. PMID:26495953

  6. Electroencephalography in congenital malformations of the central nervous system.

    PubMed

    Campos, P; Cruz, G; Lizarraga, R; Bancalari, E; Guillen, D; Castañeda, C

    1994-12-01

    We studied clinical and EEG features of 36 cases with congenital malformations of the CNS. Patients were followed at the outpatient clinic of Hospital Cayetano Heredia and of Hogar Clinica San Juan de Dios in Lima-Peru, from January 1984 to June 1992. Eighty percent of the patients had convulsive syndromes and mental retardation. The most frequent malformation was agenesis of corpus callosum, and it was not possible to find a "typical" EEG pattern. The second were porencephalic cysts, with a good clinical-EEG correlation. There were two typical cases of schizencephaly, one of hemimegalencephaly with good prognosis, and one of holoprosencephaly. The results are compared to those obtained for a series we previously reported. Data discussed take into account reports on the subject registered in the literature. It is concluded that EEG is an useful method to evaluate possible CNS malformations in developing countries. PMID:7611945

  7. Fetal Magnetic Resonance Imaging of Malformations Associated with Heterotaxy

    PubMed Central

    Shah, Parinda H; Anderson, Robert H

    2015-01-01

    Magnetic resonance imaging (MRI) is increasingly used as an investigation during fetal life, particularly for assessment of intracranial masses, congenital diaphragmatic hernia, myelomeningocele, and abdominal masses. As the number of scans increases, so is the variety of congenital malformations being recognized. It is axiomatic that interpretation of the findings is enhanced when attention is paid to the likely findings in the setting of known syndromes, this information then dictating the need for additional acquisition of images. One such syndrome is so-called “visceral heterotaxy”, in which there is typically an isomeric, rather than a lateralized, arrangement of the thoracic and abdominal organs. Typically associated with complex congenital cardiac malformations, heterotaxy can also involve the central nervous system, and produce pulmonary, gastrointestinal, immunologic, and genitourinary malformations. In this review, we discuss how these findings can be demonstrated using fetal MRI.  PMID:26180693

  8. Venous malformations: Sclerotherapy with a mixture of ethanol and lipiodol

    SciTech Connect

    Suh, Jin-Suck; Shin, Kyoo-Ho; Na, Jae-Bum; Won, Jong-Yun; Hahn, Soo-Bong

    1997-07-15

    Purpose. To evaluate the usefulness of a mixture of absolute ethanol and lipiodol in the management of venous malformations. Methods. Percutaneous sclerotherapy was performed with a mixture of absolute ethanol and lipiodol (9:1) in 17 patients with venous malformations, once in 12 patients, twice in 5. The therapeutic efficacy was evaluated by pain reduction. Conventional radiographs (n=15) and posttreatment magnetic resonance imaging (n=5) were obtained for the follow-up evaluation. Results. Sclerotherapy was successful in all but two patients. The therapeutic effect was excellent in two patients, good in seven, fair in five, and poor in one. Radiopacity of lipiodol was beneficial for monitoring the procedure rather than for follow-up evaluations. Areas with low signal-intensity strands were increased on T2-weighted images obtained after the sclerotherapy. Conclusion. Sclerotherapy with a mixture of ethanol and lipiodol is effective in treating venous malformations.

  9. Genomic Variants and Variations in Malformations of Cortical Development

    PubMed Central

    Jamuar, Saumya S.; Walsh, Christopher A.

    2015-01-01

    Malformations of cortical development (MCD) are a common cause of neurodevelopmental delay and epilepsy and are caused by disruptions in the normal development of the cerebral cortex. Advances in genetic tools have expanded our understanding of the genetics of these malformations over the past few years, with a number of new causative genes identified in patients with MCD. In addition, there has been a vast expansion in the phenotypic characterization of the known genes, with a wide range as well as severity of malformations being reported. There is increasing evidence of role of de novo mutations, including those occurring post fertilization, in MCD. These “somatic” mutations may not be detectable by traditional methods of genetic testing performed on blood DNA. Identification of the genetic etiology can help in guiding families in future pregnancies. Recent work has highlighted how elucidation of key molecular pathway can also allow for targeted therapeutic interventions. PMID:26022163

  10. Ear Cubes for local controlled drug delivery to the inner ear.

    PubMed

    Gehrke, M; Sircoglou, J; Gnansia, D; Tourrel, G; Willart, J-F; Danede, F; Lacante, E; Vincent, C; Siepmann, F; Siepmann, J

    2016-07-25

    A new type of advanced drug delivery systems is proposed: Miniaturized implants, which can be placed into tiny holes drilled into (or close to) the oval window. They consist of two parts: 1) A cylinder, which is inserted into the hole crossing the oval window. The cylinder (being longer than the depth of the hole) is partly located within the inner ear and surrounded by perilymph. This provides direct access to the target site, and at the same time assures implant fixation. 2) A cuboid, which is located in the middle ear, serving as a drug reservoir. One side of the cuboid is in direct contact with the oval window. Drug release into the cochlea occurs by diffusion through the cylindrical part of the Ear Cubes and by diffusion from the cuboid into and through the oval window. High precision molds were used to prepare two differently sized Ear Cubes by injection molding. The miniaturized implants were based on silicone and loaded with different amounts of dexamethasone (10 to 30 % w/w). The systems were thoroughly characterized before and upon exposure to artificial perilymph at 37°C. Importantly, drug release can effectively be controlled and sustained during long time periods (up to several years). Furthermore, the implants did not swell or erode to a noteworthy extent during the observation period. Drug diffusion through the polymeric matrix, together with limited dexamethasone solubility effects, seem to control the resulting drug release kinetics, which can roughly be estimated using mathematical equations derived from Fick's second law. Importantly, the proposed Ear Cubes are likely to provide much more reliable local long term drug delivery to the inner ear compared to liquid or semi-solid dosage forms administered into the middle ear, due to a more secured fixation. Furthermore, they require less invasive surgeries and can accommodate higher drug amounts compared to intracochlear implants. Thus, they offer the potential to open up new horizons for innovative

  11. Chinchilla middle-ear admittance and sound power: High-frequency estimates and effects of inner-ear modifications

    PubMed Central

    Ravicz, Michael E.; Rosowski, John J.

    2012-01-01

    The middle-ear input admittance relates sound power into the middle ear (ME) and sound pressure at the tympanic membrane (TM). ME input admittance was measured in the chinchilla ear canal as part of a larger study of sound power transmission through the ME into the inner ear. The middle ear was open, and the inner ear was intact or modified with small sensors inserted into the vestibule near the cochlear base. A simple model of the chinchilla ear canal, based on ear canal sound pressure measurements at two points along the canal and an assumption of plane-wave propagation, enables reliable estimates of YTM, the ME input admittance at the TM, from the admittance measured relatively far from the TM. YTM appears valid at frequencies as high as 17 kHz, a much higher frequency than previously reported. The real part of YTM decreases with frequency above 2 kHz. Effects of the inner-ear sensors (necessary for inner ear power computation) were small and generally limited to frequencies below 3 kHz. Computed power reflectance was ∼0.1 below 3.5 kHz, lower than with an intact ME below 2.5 kHz, and nearly 1 above 16 kHz. PMID:23039439

  12. Models of cortical malformation--Chemical and physical.

    PubMed

    Luhmann, Heiko J

    2016-02-15

    Pharmaco-resistant epilepsies, and also some neuropsychiatric disorders, are often associated with malformations in hippocampal and neocortical structures. The mechanisms leading to these cortical malformations causing an imbalance between the excitatory and inhibitory system are largely unknown. Animal models using chemical or physical manipulations reproduce different human pathologies by interfering with cell generation and neuronal migration. The model of in utero injection of methylazoxymethanol (MAM) acetate mimics periventricular nodular heterotopia. The freeze lesion model reproduces (poly)microgyria, focal heterotopia and schizencephaly. The in utero irradiation model causes microgyria and heterotopia. Intraperitoneal injections of carmustine 1-3-bis-chloroethyl-nitrosurea (BCNU) to pregnant rats produces laminar disorganization, heterotopias and cytomegalic neurons. The ibotenic acid model induces focal cortical malformations, which resemble human microgyria and ulegyria. Cortical dysplasia can be also observed following prenatal exposure to ethanol, cocaine or antiepileptic drugs. All these models of cortical malformations are characterized by a pronounced hyperexcitability, few of them also produce spontaneous epileptic seizures. This dysfunction results from an impairment in GABAergic inhibition and/or an increase in glutamatergic synaptic transmission. The cortical region initiating or contributing to this hyperexcitability may not necessarily correspond to the site of the focal malformation. In some models wide-spread molecular and functional changes can be observed in remote regions of the brain, where they cause pathophysiological activities. This paper gives an overview on different animal models of cortical malformations, which are mostly used in rodents and which mimic the pathology and to some extent the pathophysiology of neuronal migration disorders associated with epilepsy in humans. PMID:25850077

  13. Computer-integrated finite element modeling of human middle ear.

    PubMed

    Sun, Q; Gan, R Z; Chang, K-H; Dormer, K J

    2002-10-01

    The objective of this study was to produce an improved finite element (FE) model of the human middle ear and to compare the model with human data. We began with a systematic and accurate geometric modeling technique for reconstructing the middle ear from serial sections of a freshly frozen temporal bone. A geometric model of a human middle ear was constructed in a computer-aided design (CAD) environment with particular attention to geometry and microanatomy. Using the geometric model, a working FE model of the human middle ear was created using previously published material properties of middle ear components. This working FE model was finalized by a cross-calibration technique, comparing its predicted stapes footplate displacements with laser Doppler interferometry measurements from fresh temporal bones. The final FE model was shown to be reasonable in predicting the ossicular mechanics of the human middle ear. PMID:14595544

  14. Prenatal diagnosis of congenital renal and urinary tract malformations.

    PubMed

    Hindryckx, A; De Catte, L

    2011-01-01

    Congenital abnormalities of the kidneys and the urinary tract are the most common sonographically identified -malformations in the prenatal period. Obstructive uropathies account for the majority of cases. The aim of prenatal diagnosis and management is to detect those anomalies having impact on the prognosis of the affected child and -requiring early postnatal evaluation or treatment to minimize adverse outcomes. In this paper, we summarize the embryology of kidneys and urinary tract, the normal sonographic appearance through-out pregnancy and the prenatal diagnosis of their congenital malformations. PMID:24753862

  15. Split-hand/feet malformation: A rare syndrome

    PubMed Central

    Gane, Bahubali D.; Natarajan, P.

    2016-01-01

    Split-hand/split-foot malformation (SHFM) is mainly inherited as an autosomal dominant trait with incomplete penetrance and characterized by malformation of the limb involving the central rays of the autopod. It presents with a deep median cleft of the hand and/or foot, aplasia/hypoplasia of the phalanges, metacarpals, and metatarsals. Pathogenic mechanism is a failure to maintain signaling from the median apical ectodermal ridge. Without this signaling, cells of the underlying progress zone stop proliferation and differentiation which in turn results in defects of the central rays. We describe a case of SHFM in 10-year-old boy. PMID:27453866

  16. [Urinary tract abnormalities with anorrectal malformations (author's transl)].

    PubMed

    Nogués, A; Ceres, M L; Olagüe, R; Andrés, V; Lanuza, A

    1978-01-01

    Thirty five patients with anorrectal malformations are reviewed. These are divided in high and low anomalies according to some simple clinical data, better than the drawing of reference lines to determinate the height of puborrectalis muscle. Malformations were associated in 13 cases with urinary tract estructural anomalies and in four cases with isolated vesico-ureteral reflux. Diagnosis of urinary tract infection was made in 14 patients, 12 of them with recto-urinary fistula. A point is made about the complete and early exploration of all these patients to prevent irreparable renal damage that could be developed. PMID:655503

  17. Cerebral arteriovenous malformation presenting as visual deterioration in a child.

    PubMed

    Kaye, L C; Kaye, S B; Lagnado, R; Boothroyd, A; Morton, C; May, P

    2000-10-01

    A rare case of visual loss as the presenting feature of a central arteriovenous malformation involving the vein of Galen is reported. A 5-year-old girl with a history of deteriorating vision for the past 6 months was examined. Ocular examination showed a left hemianopia, left optic atrophy, and dilated vessels of the right optic disc. MRI revealed a massive deep-seated central arteriovenous malformation involving the vein of Galen. The mechanism of visual loss is likely to be a combination of ischaemic optic atrophy associated with a steal phenomenon and direct compression of the right optic radiation. PMID:11085301

  18. Multiple Complex Congenital Malformations in a Rabbit Kit (Oryctolagus cuniculi)

    PubMed Central

    Booth, Jennifer L; Peng, Xuwen; Baccon, Jennifer; Cooper, Timothy K

    2013-01-01

    Congenital malformations may occur during early embryogenesis in cases of genetic abnormalities or various environmental factors. Affected subjects most often have only one or 2 abnormalities; subjects rarely have several unrelated congenital defects. Here we describe a case of a stillborn New Zealand white rabbit with multiple complex congenital malformations, including synophthalmia, holoprosencephaly, gastroschisis, and a supernumerary hindlimb, among other anomalies. There was no historical exposure to teratogens or other known environmental causes. Although not confirmed, this case was most likely a rare spontaneous genetic event. PMID:24209970

  19. Chiari malformations: An important cause of pediatric aspiration.

    PubMed

    Fuller, Jennifer C; Sinha, Sumi; Caruso, Paul A; Hersh, Cheryl J; Butler, William E; Krishnamoorthy, Kalpathy S; Hartnick, Christopher J

    2016-09-01

    Chronic aspiration poses a major health risk to the pediatric population. We describe four cases in which work up for chronic aspiration with a brain MRI revealed a Chiari I malformation, a poorly described etiology of pediatric aspiration. All patients had at least one non-specific neurologic symptom but had swallow studies more characteristic of an anatomic than a neurologic etiology. Patients were referred to neurosurgery and underwent posterior fossa decompression with symptom improvement. A high index of suspicion for Chiari malformation should be maintained when the standard work up for aspiration is non-diagnostic, particularly when non-specific neurologic symptoms are present. PMID:27497399

  20. Split-hand/feet malformation: A rare syndrome.

    PubMed

    Gane, Bahubali D; Natarajan, P

    2016-01-01

    Split-hand/split-foot malformation (SHFM) is mainly inherited as an autosomal dominant trait with incomplete penetrance and characterized by malformation of the limb involving the central rays of the autopod. It presents with a deep median cleft of the hand and/or foot, aplasia/hypoplasia of the phalanges, metacarpals, and metatarsals. Pathogenic mechanism is a failure to maintain signaling from the median apical ectodermal ridge. Without this signaling, cells of the underlying progress zone stop proliferation and differentiation which in turn results in defects of the central rays. We describe a case of SHFM in 10-year-old boy. PMID:27453866

  1. ASSESSMENT OF ENVIRONMENTAL STRESSORS POTENTIALLY RESPONSIBLE FOR MALFORMATIONS IN NORTH AMERICAN ANURAN AMPHIBIANS

    EPA Science Inventory

    A number of species of anuran amphibians from different regions across North America have recently exhibited an increased occurrence of, predominantly, hind limb malformations. Research concerning factors potentially responsible for these malformations has focused extensively on ...

  2. Computed Tomography Staging of Middle Ear Cholesteatoma

    PubMed Central

    Razek, Ahmed Abdel Khalek Abdel; Ghonim, Mohamed Rashad; Ashraf, Bassem

    2015-01-01

    Summary Background To establish computed tomography (CT) staging of middle ear cholesteatoma and assess its impact on the selection of the surgical procedure. Material/Methods Prospective study was conducted on 61 consecutive patients (mean age 26.8 years) with middle ear cholesteatoma. CT scan of the temporal bone and surgery were performed in all patients. CT staging classified cholesteatoma according to its location in the tympanic cavity (T); extension into the mastoid (M); and associated complications (C). Cholesteatoma was staged as stage I (T1, T2), stage II (T3, M1, M2, C1), and stage III (C2). Results The overall sensitivity of CT staging of cholesteatoma compared to surgery was 88% with excellent agreement and correlation between CT findings and intra-operative findings (K=0.863, r=0.86, P=0.001). There was excellent agreement and correlation of CT staging with surgical findings for T location (K=0.811, r=0.89, P=0.001), good for M extension (K=0.734, r=0.88, P=0.001), and excellent for associated C complications (K=1.00, r=1.0, P=0.001). Atticotympanotomy was carried out in stage I (n=14), intact canal wall surgery was performed in stage II (n=38), and canal wall down surgery was done in stage III (n=5) and stage II (n=4). Conclusions We established CT staging of middle ear cholesteatoma that helps surgeons to select an appropriate surgery. PMID:26171086

  3. Sclerotherapy using 1% sodium tetradecyl sulfate to treat a vascular malformation: a report of two cases

    PubMed Central

    2015-01-01

    Vascular malformations are the most common congenital and neonatal vascular anomalies in the head and neck region. The demand for simple and esthetic vascular malformation treatments have increased more recently. In this study, two patients that were diagnosed with venous malformations were treated with sodium tetradecyl sulfate as a sclerosing agent. Recurrence was not found one year after the surgery. This article gives a brief case report of sclerotherapy as an effective approach to treat vascular malformations in the oral cavity. PMID:26734559

  4. The effects of fibrin tissue adhesive on the middle ear.

    PubMed

    Katzke, D; Pusalkar, A; Steinbach, E

    1983-02-01

    This study investigated the effects of fibrin glue ('Tissucol', Immuno Pty. Ltd.) in the middle and inner ear. Small amounts of the adhesive were used in 36 operations performed on 18 rabbits. The light microscopic examination of these ears four, eight and 12 weeks after surgery showed that the adhesive was well tolerated and that it did not have any toxic effect on the middle ear or membranous labyrinth. The fibrin tissue adhesive can therefore safely be used to facilitate reconstructive middle-ear surgery and, with the aid of fascia, also for the closure of labyrinthine fistulae; or to achieve a definite seal of oval window niche after stapes surgery. PMID:6600776

  5. Neuroendocrine Adenoma of the Middle Ear: A Rare Histopathological Diagnosis

    PubMed Central

    McGinness, Sam; Coleman, Hedley; Varikatt, Winny; da Cruz, Melville

    2016-01-01

    Neuroendocrine tumours occur throughout the body but are rare in the head and neck region and particularly rare in the middle ear. Clinical findings are often nonspecific and therefore pose a diagnostic challenge. Furthermore, the nomenclature of neuroendocrine tumours of the middle ear is historically controversial. Herein a case is presented of a middle ear adenoma in a 33-year-old patient who presented with otalgia, hearing loss, and facial nerve palsy. A brief discussion is included regarding the histopathological features of middle ear adenomas and seeks to clarify the correct nomenclature for these tumours. PMID:27429819

  6. Fly-ear inspired acoustic sensors for gunshot localization

    NASA Astrophysics Data System (ADS)

    Liu, Haijun; Currano, Luke; Gee, Danny; Yang, Benjamin; Yu, Miao

    2009-05-01

    The supersensitive ears of the parasitoid fly Ormia ochracea have inspired researchers to develop bio-inspired directional microphone for sound localization. Although the fly ear is optimized for localizing the narrow-band calling song of crickets at 5 kHz, experiments and simulation have shown that it can amplify directional cues for a wide frequency range. In this article, a theoretical investigation is presented to study the use of fly-ear inspired directional microphones for gunshot localization. Using an equivalent 2-DOF model of the fly ear, the time responses of the fly ear structure to a typical shock wave are obtained and the associated time delay is estimated by using cross-correlation. Both near-field and far-field scenarios are considered. The simulation shows that the fly ear can greatly amplify the time delay by ~20 times, which indicates that with an interaural distance of only 1.2 mm the fly ear is able to generate a time delay comparable to that obtained by a conventional microphone pair with a separation as large as 24 mm. Since the parameters of the fly ear structure can also be tuned for muzzle blast and other impulse stimulus, fly-ear inspired acoustic sensors offers great potential for developing portable gunshot localization systems.

  7. EARS, MARS combined radio observations - 2014

    NASA Astrophysics Data System (ADS)

    Tomezzoli, Giancarlo

    2014-02-01

    The Lyrid meteor shower was generated on 21-22 April 2014 by the passage of the Earth through the path of the debris of the comet C/1861 G1 (Thatcher). The Camelopardalids meteor shower was generated on 23-24 May 2014 by the passage of the Earth through the path of the debris of the comet 209P/Linear. The EurAstro Radio Station (EARS) and the Malta Astro Radio Station (MARS) were operated in parallel for two combined radio observation campaigns. The campaigns revealed that further combined radio observation campaigns are necessary to solve the problem of estimating the number of lost radio meteor echoes.

  8. Morphometric study of the external and middle ear anatomy in sheep: a possible model for ear experiments.

    PubMed

    Seibel, Valter Alberto Ayres; Lavinsky, Luiz; De Oliveira, José Alfredo Preto

    2006-09-01

    Sheep are a potentially useful model for otologic surgical training and experimentation, currently limited by the scarcity of morphological comparisons between the structure of the ear in sheep and in humans. A detailed morphometric study of the ear in sheep was carried out using computed tomography. Measurements made with AutoCAD Release 14 were compared with measurements for the human ear reported in the literature. In general, ear structures in sheep are two-thirds the size of those in humans. The important anatomical similarities found in this study between the ear in sheep and in humans suggest that sheep may be a useful model for surgical training and experimentation in some middle ear procedures. PMID:16287111

  9. Mimosa tenuiflora as a Cause of Malformations in Ruminants in the Northeastern Brazilian Semiarid Rangelands

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Craniofacial anomalies, eye malformations, and permanent flexures of the forelimbs are common malformations seen in ruminants grazing semiarid rangelands of Northeastern Brazil. To investigate the cause of these malformations, we fed 2 suspected plants, Mimosa tenuiflora or Prosopis juliflora, to gr...

  10. Notch-1 Signalling Is Activated in Brain Arteriovenous Malformations in Humans

    ERIC Educational Resources Information Center

    ZhuGe, Qichuan; Zhong, Ming; Zheng, WeiMing; Yang, Guo-Yuan; Mao, XiaoOu; Xie, Lin; Chen, Gourong; Chen, Yongmei; Lawton, Michael T.; Young, William L.; Greenberg, David A.; Jin, Kunlin

    2009-01-01

    A role for the Notch signalling pathway in the formation of arteriovenous malformations during development has been suggested. However, whether Notch signalling is involved in brain arteriovenous malformations in humans remains unclear. Here, we performed immunohistochemistry on surgically resected brain arteriovenous malformations and found that,…

  11. Diencephalic-Mesencephalic Junction Dysplasia: A Novel Recessive Brain Malformation

    ERIC Educational Resources Information Center

    Zaki, Maha S.; Saleem, Sahar N.; Dobyns, William B.; Barkovich, A. James; Bartsch, Hauke; Dale, Anders M.; Ashtari, Manzar; Akizu, Naiara; Gleeson, Joseph G.; Grijalvo-Perez, Ana Maria

    2012-01-01

    We describe six cases from three unrelated consanguineous Egyptian families with a novel characteristic brain malformation at the level of the diencephalic-mesencephalic junction. Brain magnetic resonance imaging demonstrated a dysplasia of the diencephalic-mesencephalic junction with a characteristic "butterfly"-like contour of the midbrain on…

  12. Neurodevelopmental Outcomes in Children with Cerebellar Malformations: A Systematic Review

    ERIC Educational Resources Information Center

    Bolduc, Marie-Eve; Limperopoulos, Catherine

    2009-01-01

    Cerebellar malformations are increasingly diagnosed in the fetal period. Consequently, their consideration requires stressful and often critical decisions from both clinicians and families. This has resulted in an emergent need to understand better the impact of these early life lesions on child development. We performed a comprehensive literature…

  13. Corpus callosum arteriovenous malformation with persistent trigeminal artery.

    PubMed

    Mohanty, Chandan B; Devi, B Indira; Somanna, Sampath; Bhat, Dhananjaya I; Dawn, Rose

    2011-12-01

    A 13-year-old boy presented with an intracerebral haematoma secondary to a large corpus callosal arteriovenous malformation (AVM) with an associated persistent trigeminal artery, and was treated with Gamma-Knife Radiosurgery for the AVM. This report discusses the embryological basis, radiological features and various classifications of this rare vascular anomaly. PMID:21501055

  14. [A case of malformation in Pachycheles serratus (Decapoda: Porcellanidae)].

    PubMed

    Lira, C; Hernández, G; Bolaños, J A

    2003-06-01

    An adult male of Pachycheles serratus with a malformation on the right cheliped was found during a collection of anomuran crabs in coastal waters of the peninsula de Macanao, Margarita island, Venezuela. The specimen was found at La Carmela beach (11 degrees 04'N-64 degrees 20'W), and featured a bifurcated fixed finger on the right cheliped. PMID:15264565

  15. Embryonic Expression of Cyclooxygenase-2 Causes Malformations in Axial Skeleton*

    PubMed Central

    Shim, Minsub; Foley, Julie; Anna, Colleen; Mishina, Yuji; Eling, Thomas

    2010-01-01

    Cyclooxygenases (COXs) have important functions in various physiological and pathological processes. COX-2 expression is highly induced by a variety of stimuli and is observed during certain periods of embryonic development. In this report, the direct effect of COX-2 expression on embryonic development is examined in a novel COX-2 transgenic mouse model that ubiquitously expresses human COX-2 from the early stages of embryonic development. COX-2 transgenic fetuses exhibit severe skeletal malformations and die shortly after birth. Skeletal malformations are localized along the entire vertebral column and rib cage and are linked to defective formation of cartilage anlagen. The cartilage anlagen of axial skeleton fail to properly develop in transgenic embryos because of impaired precartilaginous sclerotomal condensation, which results from the reduction of cell number in the sclerotome. Despite the ubiquitous expression of COX-2, the number of apoptotic cells is highly increased in the sclerotome of transgenic embryos but not in other tissues, suggesting that it is a tissue-specific response. Therefore, the loss of sclerotomal cells due to an increased apoptosis is probably responsible for axial skeletal malformations in transgenic fetuses. In addition, the sclerotomal accumulation of p53 protein is observed in transgenic embryos, suggesting that COX-2 may induce apoptosis via the up-regulation of p53. Our results demonstrate that the aberrant COX-2 signaling during embryonic development is teratogenic and suggest a possible association of COX-2 with fetal malformations of unknown etiology. PMID:20236942

  16. Failed transarterial embolization of subserosal uterine arteriovenous malformation

    PubMed Central

    Seo, Kyung Jin; Kim, Jin; Sohn, In Sook; Kwon, Han Sung; Park, Sang Woo

    2013-01-01

    Uterine arteriovenous malformation (AVM) is rare but potentially life-threatening from excessive vaginal bleeding. All uterine AVMs reported to date have been found in the endometrial or myometrial layers. Here we present a patient with a subserosal type AVM on the fundus of uterus, which spontaneously ruptured. PMID:24328024

  17. Proximity to pollution sources and risk of amphibian limb malformation.

    PubMed

    Taylor, Brynn; Skelly, David; Demarchis, Livia K; Slade, Martin D; Galusha, Deron; Rabinowitz, Peter M

    2005-11-01

    The cause of limb deformities in wild amphibian populations remains unclear, even though the apparent increase in prevalence of this condition may have implications for human health. Few studies have simultaneously assessed the effect of multiple exposures on the risk of limb deformities. In a cross-sectional survey of 5,264 hylid and ranid metamorphs in 42 Vermont wetlands, we assessed independent risk factors for nontraumatic limb malformation. The rate of nontraumatic limb malformation varied by location from 0 to 10.2%. Analysis of a subsample did not demonstrate any evidence of infection with the parasite Ribeiroia. We used geographic information system (GIS) land-use/land-cover data to validate field observations of land use in the proximity of study wetlands. In a multiple logistic regression model that included land use as well as developmental stage, genus, and water-quality measures, proximity to agricultural land use was associated with an increased risk of limb malformation (odds ratio = 2.26; 95% confidence interval, 1.42-3.58; p < 0.001). The overall discriminant power of the statistical model was high (C = 0.79). These findings from one of the largest systematic surveys to date provide support for the role of chemical toxicants in the development of amphibian limb malformation and demonstrate the value of an epidemiologic approach to this problem. PMID:16263502

  18. Hypospadias and anorectal malformations mediated by Eph/ephrin signaling

    PubMed Central

    Yucel, Selcuk; Dravis, Christopher; Garcia, Nilda; Henkemeyer, Mark; Baker, Linda A.

    2007-01-01

    Purpose Despite extensive research, the molecular basis of hypospadias and anorectal malformations is poorly understood, likely due to a multifactorial basis. The incidence of hypospadias is increasing, thus making research in this area warranted and timely. This review presents recent molecular work broadening our understanding of these disorders. Materials and Methods A brief review of our recent work and the literature on the role of Eph/ephrin signaling in hypospadias and anorectal malformations is presented. Results Genetically engineered mice mutant for ephrin-B2 or EphB2;EphB3 manifest a variety of genitourinary and anorectal malformations. Approximately 40% of adult male heterozygous mice demonstrate perineal hypospadias. Although homozygous mice die soon after birth, 100% of homozygous males demonstrate high imperforate anus with urethral anomalies and 100% of homozygous females demonstrate persistent cloaca. Male mice compound homozygous for EphB2ki/ki;EphB3Δ/Δ/ also demonstrate hypospadias. Conclusions These mouse models provide compelling evidence of the role of B-class Eph/ephrin signaling in genitourinary/anorectal development and add to our mechanistic and molecular understanding of normal and abnormal embryonic development. As research on the B-class Ephs and ephrins continues, they will likely be shown to be molecular contributors to the multifactorial basis of hypospadias and anorectal malformations in humans as well. PMID:18431460

  19. Gallbladder malformation with gastric wall-like architecture.

    PubMed

    Santonja, C; Rollán, V

    1996-09-01

    A 3-year-old girl was found to have a distended gallbladder, which pathologically consisted almost entirely of a gastric-type wall, featuring muscularis mucosae and a well-developed bilayered muscularis propria. This appears to be a unique, not previously recognized, malformation of the gallbladder. PMID:8887106

  20. Ventral Decompression in Chiari Malformation, Basilar Invagination, and Related Disorders.

    PubMed

    Ridder, Thomas; Anderson, Richard C E; Hankinson, Todd C

    2015-10-01

    Ventral brainstem compression is an uncommon clinical diagnosis seen by pediatric neurosurgeons and associated with Chiari malformation, type I. Presenting clinical symptoms often include headaches, lower cranial neuropathies, myelopathy, central sleep apnea, ataxia, and nystagmus. When ventral decompression is required, both open and endoscopic transoral/transnasal approaches are highly effective. PMID:26408067

  1. Stereotactic microresection of small cerebral vascular malformations (SCVM).

    PubMed

    Lerch, K D; Schaefer, D; Palleske, H

    1994-01-01

    Between 1988-1993 we performed CT-stereotactic guided microsurgical resection as a one-session-procedure in 46 patients bearing small (< 30 mm) cerebral vascular malformations (SCVM). The location of the SCVM was deep subcortical in 38 patients, temporal medio- basal in 3 and brainstem in 5. The surgical technique intended to minimise invasiveness by reducing the operative approach to a size less than the diameter of the lesion concerned. The mean diameter of our SCVM's was 20 mm ranging from 10 to 30 mm. Histologically we found 23 arteriovenous malformations, 22 cavernous malformations and 1 capillary telangiectasia (capillary malformation). Clinical symptomatology consisted mainly of seizures, (progressive) neurological deficit and (minute) acute intracerebral bleeding. The SCVMs could be demonstrated by contrast-enhanced CT as well as by MRI. 15 of the AVM's revealed as angiographically occult. Complete microsurgical resection of the SCVM was accomplished in all cases with a surgical morbidity of 6.5% and no operative mortality. In 14 patients, most of them with initial acute intracerebral haemorrhage, the pronounced focal neurological deficit improved. During the follow-up period (1/2-5 years) no rebleeding occurred. As far as epileptic seizures were concerned 13 patients became seizure-free without anticonvulsants and 11 patients seizure-free with anticonvulsant, in the remaining 4 patients seizures were reduced in frequency. PMID:7725939

  2. Diagnosis and Nonsurgical Management of Uterine Arteriovenous Malformation

    SciTech Connect

    Rangarajan, R. D.; Moloney, J. C.; Anderson, H. J.

    2007-11-15

    Uterine arteriovenous malformation (AVM) is an uncommon problem and traditional treatment by hysterectomy excludes the possibility of future pregnancy. Developments in interventional techniques make transcatheter embolization of the feeding vessel(s) a therapeutic alternative, potentially preserving the patient's fertility. We present a case of successful endovascular treatment of uterine AVM.

  3. Sp8 regulates inner ear development.

    PubMed

    Chung, Hyeyoung A; Medina-Ruiz, Sofia; Harland, Richard M

    2014-04-29

    A forward genetic screen of N-ethyl-N-nitrosourea mutagenized Xenopus tropicalis has identified an inner ear mutant named eclipse (ecl). Mutants developed enlarged otic vesicles and various defects of otoconia development; they also showed abnormal circular and inverted swimming patterns. Positional cloning identified specificity protein 8 (sp8), which was previously found to regulate limb and brain development. Two different loss-of-function approaches using transcription activator-like effector nucleases and morpholino oligonucleotides confirmed that the ecl mutant phenotype is caused by down-regulation of sp8. Depletion of sp8 resulted in otic dysmorphogenesis, such as uncompartmentalized and enlarged otic vesicles, epithelial dilation with abnormal sensory end organs. When overexpressed, sp8 was sufficient to induce ectopic otic vesicles possessing sensory hair cells, neurofilament innervation in a thickened sensory epithelium, and otoconia, all of which are found in the endogenous otic vesicle. We propose that sp8 is an important factor for initiation and elaboration of inner ear development. PMID:24722637

  4. Probing the Xenopus laevis inner ear transcriptome for biological function

    PubMed Central

    2012-01-01

    Background The senses of hearing and balance depend upon mechanoreception, a process that originates in the inner ear and shares features across species. Amphibians have been widely used for physiological studies of mechanotransduction by sensory hair cells. In contrast, much less is known of the genetic basis of auditory and vestibular function in this class of animals. Among amphibians, the genus Xenopus is a well-characterized genetic and developmental model that offers unique opportunities for inner ear research because of the amphibian capacity for tissue and organ regeneration. For these reasons, we implemented a functional genomics approach as a means to undertake a large-scale analysis of the Xenopus laevis inner ear transcriptome through microarray analysis. Results Microarray analysis uncovered genes within the X. laevis inner ear transcriptome associated with inner ear function and impairment in other organisms, thereby supporting the inclusion of Xenopus in cross-species genetic studies of the inner ear. The use of gene categories (inner ear tissue; deafness; ion channels; ion transporters; transcription factors) facilitated the assignment of functional significance to probe set identifiers. We enhanced the biological relevance of our microarray data by using a variety of curation approaches to increase the annotation of the Affymetrix GeneChip® Xenopus laevis Genome array. In addition, annotation analysis revealed the prevalence of inner ear transcripts represented by probe set identifiers that lack functional characterization. Conclusions We identified an abundance of targets for genetic analysis of auditory and vestibular function. The orthologues to human genes with known inner ear function and the highly expressed transcripts that lack annotation are particularly interesting candidates for future analyses. We used informatics approaches to impart biologically relevant information to the Xenopus inner ear transcriptome, thereby addressing the

  5. Brain Vascular Malformation Consortium: Overview, Progress and Future Directions

    PubMed Central

    Akers, Amy L.; Ball, Karen L.; Clancy, Marianne; Comi, Anne M.; Faughnan, Marie E.; Gopal-Srivastava, Rashmi; Jacobs, Thomas P.; Kim, Helen; Krischer, Jeffrey; Marchuk, Douglas A.; McCulloch, Charles E.; Morrison, Leslie; Moses, Marsha; Moy, Claudia S.; Pawlikowska, Ludmilla; Young, William L.

    2013-01-01

    Brain vascular malformations are resource-intensive to manage effectively, are associated with serious neurological morbidity, lack specific medical therapies, and have no validated biomarkers for disease severity and progression. Investigators have tended to work in “research silos” with suboptimal cross-communication. We present here a paradigm for interdisciplinary collaboration to facilitate rare disease research. The Brain Vascular Malformation Consortium (BVMC) is a multidisciplinary, inter-institutional group of investigators, one of 17 consortia in the Office of Rare Disease Research Rare Disease Clinical Research Network (RDCRN). The diseases under study are: familial Cerebral Cavernous Malformations type 1, common Hispanic mutation (CCM1-CHM); Sturge-Weber Syndrome (SWS); and brain arteriovenous malformation in hereditary hemorrhagic telangiectasia (HHT). Each project is developing biomarkers for disease progression and severity, and has established scalable, relational databases for observational and longitudinal studies that are stored centrally by the RDCRN Data Management and Coordinating Center. Patient Support Organizations (PSOs) are a key RDCRN component in the recruitment and support of participants. The BVMC PSOs include Angioma Alliance, Sturge Weber Foundation, and HHT Foundation International. Our networks of clinical centers of excellence in SWS and HHT, as well as our PSOs, have enhanced BVMC patient recruitment. The BVMC provides unique and valuable resources to the clinical neurovascular community, and recently reported findings are reviewed. Future planned studies will apply successful approaches and insights across the three projects to leverage the combined resources of the BVMC and RDCRN in advancing new biomarkers and treatment strategies for patients with vascular malformations. PMID:25221778

  6. Brain Vascular Malformation Consortium: Overview, Progress and Future Directions.

    PubMed

    Akers, Amy L; Ball, Karen L; Clancy, Marianne; Comi, Anne M; Faughnan, Marie E; Gopal-Srivastava, Rashmi; Jacobs, Thomas P; Kim, Helen; Krischer, Jeffrey; Marchuk, Douglas A; McCulloch, Charles E; Morrison, Leslie; Moses, Marsha; Moy, Claudia S; Pawlikowska, Ludmilla; Young, William L

    2013-04-01

    Brain vascular malformations are resource-intensive to manage effectively, are associated with serious neurological morbidity, lack specific medical therapies, and have no validated biomarkers for disease severity and progression. Investigators have tended to work in "research silos" with suboptimal cross-communication. We present here a paradigm for interdisciplinary collaboration to facilitate rare disease research. The Brain Vascular Malformation Consortium (BVMC) is a multidisciplinary, inter-institutional group of investigators, one of 17 consortia in the Office of Rare Disease Research Rare Disease Clinical Research Network (RDCRN). The diseases under study are: familial Cerebral Cavernous Malformations type 1, common Hispanic mutation (CCM1-CHM); Sturge-Weber Syndrome (SWS); and brain arteriovenous malformation in hereditary hemorrhagic telangiectasia (HHT). Each project is developing biomarkers for disease progression and severity, and has established scalable, relational databases for observational and longitudinal studies that are stored centrally by the RDCRN Data Management and Coordinating Center. Patient Support Organizations (PSOs) are a key RDCRN component in the recruitment and support of participants. The BVMC PSOs include Angioma Alliance, Sturge Weber Foundation, and HHT Foundation International. Our networks of clinical centers of excellence in SWS and HHT, as well as our PSOs, have enhanced BVMC patient recruitment. The BVMC provides unique and valuable resources to the clinical neurovascular community, and recently reported findings are reviewed. Future planned studies will apply successful approaches and insights across the three projects to leverage the combined resources of the BVMC and RDCRN in advancing new biomarkers and treatment strategies for patients with vascular malformations. PMID:25221778

  7. Correlation between ultrasound diagnosis and autopsy findings of fetal malformations

    PubMed Central

    Vimercati, Antonella; Grasso, Silvana; Abruzzese, Marinella; Chincoli, Annarosa; de Gennaro, Alessandra; Miccolis, Angela; Serio, Gabriella; Selvaggi, Luigi; Fascilla, Fabiana Divina

    2012-01-01

    Summary Objective to compare ultrasound (US) and autopsy findings of fetal malformations in second trimester terminations of pregnancy to evaluate the degree of agreement between US and fetal autopsy. Methods in this study, all second trimester termination of pregnancy between 2003–2010 were considered. US and autopsy findings were compared and all cases were classified into five categories according to the degree of agreement between US and pathology (A1: full agreement between US and autopsy; A2: autopsy confirmed all US findings but revealed additional anomalies ‘rarely detectable’ prenatally; B: autopsy demonstrated all US findings but revealed additional anomalies ‘detectable’ prenatally; C: US findings were only partially demonstrated at fetal autopsy; D: total disagreement between US and autopsy). Results 144 cases were selected. In 49% of cases there was total agreement between US and autopsy diagnosis (A1). In 22% of cases additional information were about anomalies ‘not detectable’ by US (A2). In 12% of cases autopsy provided additional information about anomalies not observed but ‘detectable’ by US (B). In 13% of cases some anomalies revealed at US, such as valve insufficiencies, pericardial and pleural effusions, were not verified at autopsy (C). Total lack of agreement was noted only in 4% of cases (D). Main areas of disagreement concerned cardiovascular, CNS and complex malformations. The degree of agreement was higher if malformations were diagnosed in a tertiary center. Conclusions this study shows an overall high degree of agreement between definitive US and autopsy findings in second trimester termination of pregnancy for fetal malformations. Autopsy reveals to be the best tool to diagnose malformations and often showed other abnormalities of clinical importance not detected by US, but sometimes also US could provide additional information about functional anomalies because US is a dynamic examination. PMID:22905306

  8. LKB1 Is Required for the Development and Maintenance of Stereocilia in Inner Ear Hair Cells in Mice

    PubMed Central

    Men, Yuqin; Zhang, Aizhen; Li, Haixiang; Zhang, Tingting; Jin, Yecheng; Li, Huashun

    2015-01-01

    The LKB1 gene, which encodes a serine/threonine kinase, was discovered to play crucial roles in cell differentiation, proliferation, and the establishment of cell polarity. In our study, LKB1 conditional knockout mice (Atoh1-LKB1-/- mice) were generated to investigate LKB1 function in the inner ear. Tests of auditory brainstem response and distortion product otoacoustic emissions revealed significant decreases in the hearing sensitivities of the Atoh1-LKB1-/- mice. In Atoh1-LKB1-/- mice, malformations of hair cell stereocilliary bundles were present as early as postnatal day 1 (P1), a time long before the maturation of the hair cell bundles. In addition, we also observed outer hair cell (OHC) loss starting at P14. The impaired stereocilliary bundles occurred long before the presence of hair cell loss. Stereociliary cytoskeletal structure depends on the core actin-based cytoskeleton and several actin-binding proteins. By Western blot, we examined actin-binding proteins, specifically ERM (ezrin/radixin/moesin) proteins involved in the regulation of the actin cytoskeleton of hair cell stereocilia. Our results revealed that the phosphorylation of ERM proteins (pERM) was significantly decreased in mutant mice. Thus, we propose that the decreased pERM may be a key factor for the impaired stereocillia function, and the damaged stereocillia may induce hair cell loss and hearing impairments. Taken together, our data indicates that LKB1 is required for the development and maintenance of stereocilia in the inner ear. PMID:26274331

  9. [Direct hearing aid provision by ENT specialists: Recommendations for prevention and treatment of complications after taking ear impressions].

    PubMed

    Caffier, Ph P; Sedlmaier, B; Hölzl, M

    2009-07-01

    In times of budgeting, rising costs and monetary losses, an increasing number of ENT specialists considers the hearing system sector due to the distinct undersupply and the expected demographic development to be a market of the future and appropriate to enlarge their field of competence. Exact prevalence of direct hearing aid provision by German otorhinolaryngologists as well as its complication rate are not well-known. Retrospectively, all patients were evaluated who presented at our department with complications in the context of outpatient direct hearing aid supply within the last 3 years. Inappropriate fitting contains the danger of malformed or displaced ear impressions with various injury patterns comprising the external auditory canal, tympanic membrane and ossicular chain. Practical advices for prevention of complications include the accurate modeling and placement of sufficient impression pads behind the second bend of the auditory canal, using an adequate type of impression material as well as performing the correct application procedures. Recommendations for diagnostic patterns and treatment of complications after taking ear impressions are presented, the differences between German "traditional" and "direct" hearing aid provision are critically discussed. PMID:19579285

  10. Is a Swine Model of Arteriovenous Malformation Suitable for Human Extracranial Arteriovenous Malformation? A Preliminary Study

    SciTech Connect

    Lv, Ming-ming; Fan, Xin-dong; Su, Li-xin

    2013-10-15

    Objective: A chronic arteriovenous malformation (AVM) model using the swine retia mirabilia (RMB) was developed and compared with the human extracranial AVM (EAVM) both in hemodynamics and pathology, to see if this brain AVM model can be used as an EAVM model. Methods: We created an arteriovenous fistula between the common carotid artery and the external jugular vein in eight animals by using end-to-end anastomosis. All animals were sacrificed 1 month after surgery, and the bilateral retia were obtained at autopsy and performed hematoxylin and eosin staining and immunohistochemistry. Pre- and postsurgical hemodynamic evaluations also were conducted. Then, the blood flow and histological changes of the animal model were compared with human EAVM. Results: The angiography after operation showed that the blood flow, like human EAVM, flowed from the feeding artery, via the nidus, drained to the draining vein. Microscopic examination showed dilated lumina and disrupted internal elastic lamina in both RMB of model and nidus of human EAVM, but the thickness of vessel wall had significant difference. Immunohistochemical reactivity for smooth muscle actin, angiopoietin 1, and angiopoietin 2 were similar in chronic model nidus microvessels and human EAVM, whereas vascular endothelial growth factor was significant difference between human EAVM and RMB of model. Conclusions: The AVM model described here is similar to human EAVM in hemodynamics and immunohistochemical features, but there are still some differences in anatomy and pathogenetic mechanism. Further study is needed to evaluate the applicability and efficacy of this model.

  11. cis-Regulatory Mutations Are a Genetic Cause of Human Limb Malformations

    PubMed Central

    VanderMeer, Julia E.; Ahituv, Nadav

    2011-01-01

    The underlying mutations that cause human limb malformations are often difficult to determine, particularly for limb malformations that occur as isolated traits. Evidence from a variety of studies shows that cis-regulatory mutations, specifically in enhancers, can lead to some of these isolated limb malformations. Here, we provide a review of human limb malformations that have been shown to be caused by enhancer mutations and propose that cis-regulatory mutations will continue to be identified as the cause of additional human malformations as our understanding of regulatory sequences improves. PMID:21509892

  12. 21 CFR 344.12 - Ear drying aid active ingredient.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... 21 Food and Drugs 5 2011-04-01 2011-04-01 false Ear drying aid active ingredient. 344.12 Section 344.12 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN SERVICES (CONTINUED....12 Ear drying aid active ingredient. The active ingredient of the product consists of...

  13. 21 CFR 344.12 - Ear drying aid active ingredient.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... 21 Food and Drugs 5 2010-04-01 2010-04-01 false Ear drying aid active ingredient. 344.12 Section 344.12 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN SERVICES (CONTINUED....12 Ear drying aid active ingredient. The active ingredient of the product consists of...

  14. 21 CFR 344.12 - Ear drying aid active ingredient.

    Code of Federal Regulations, 2012 CFR

    2012-04-01

    ... 21 Food and Drugs 5 2012-04-01 2012-04-01 false Ear drying aid active ingredient. 344.12 Section 344.12 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN SERVICES (CONTINUED....12 Ear drying aid active ingredient. The active ingredient of the product consists of...

  15. CT of adenomas of the middle ear and mastoid cavity

    SciTech Connect

    Van Thong Ho; Rao, V.J.; Mikaelian, D.O.

    1996-03-01

    A case of mixed type adenoma of the middle ear and mastoid is presented in which CT showed complete opacification of the middle ear and mastoid air cells with bulging of the tympanic membrane but without ossicular or bony destruction. 7 refs., 1 figs.

  16. 21 CFR 344.12 - Ear drying aid active ingredient.

    Code of Federal Regulations, 2014 CFR

    2014-04-01

    ... 21 Food and Drugs 5 2014-04-01 2014-04-01 false Ear drying aid active ingredient. 344.12 Section 344.12 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN SERVICES (CONTINUED....12 Ear drying aid active ingredient. The active ingredient of the product consists of...

  17. 21 CFR 344.12 - Ear drying aid active ingredient.

    Code of Federal Regulations, 2013 CFR

    2013-04-01

    ... 21 Food and Drugs 5 2013-04-01 2013-04-01 false Ear drying aid active ingredient. 344.12 Section 344.12 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN SERVICES (CONTINUED....12 Ear drying aid active ingredient. The active ingredient of the product consists of...

  18. [Significance of the ear in the determination of age].

    PubMed

    Röhm, E; Adam, E

    1986-01-01

    The morphology of human ear conch is said to be rather individual, but a perfect person-identification by this mean is not possible. It is demonstrated by photographs-made in a 15 years' interval-that ear conch and auricular area can be typically marked by proceeding age and specific diseases. PMID:3741048

  19. [Adaptability of sweet corn ears to a frozen process].

    PubMed

    Ramírez Matheus, Alejandra O; Martínez, Norelkys Maribel; de Bertorelli, Ligia O; De Venanzi, Frank

    2004-12-01

    The effects of frozen condition on the quality of three sweet corn ears (2038, 2010, 2004) and the pattern (Bonanza), were evaluated. Biometrics characteristics like ear size, ear diameter, row and kernel deep were measured as well as chemical and physical measurement in fresh and frozen states. The corn ears were frozen at -95 degrees C by 7 minutes. The yield and stability of the frozen ears were evaluated at 45 and 90 days of frozen storage (-18 degrees C). The average commercial yield as frozen corn ear for all the hybrids was 54.2%. The industry has a similar value range of 48% to 54%. The ear size average was 21.57 cm, row number was 15, ear diameter 45.54 mm and the kernel corn deep was 8.57 mm. All these measurements were found not different from commercial values found for the industry. All corn samples evaluated showed good stability despites the frozen processing and storage. Hybrid 2038 ranked higher in quality. PMID:15969270

  20. The maize rachis affects Aspergillus flavus movement during ear development

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Aspergillus flavus expressing green fluorescent protein (GFP) was used to follow infection in ears of maize hybrids resistant and susceptible to the fungus. Developing ears were needle-inoculated with GFP-transformed A. flavus 20 days after silk emergence, and GFP fluorescence in the pith was evalu...

  1. Preventing Cauliflower Ear with a Modified Tie-Through Technique.

    ERIC Educational Resources Information Center

    Dimeff, Robert J.; Hough, David O.

    1989-01-01

    Describes a quick, simple tie-through suture technique (in which a collodion packing is secured to the auricle with two buttons) for preventing cauliflower ear following external ear trauma in wrestlers and boxers. The technique ensures constant compression; multiple treatments for fluid reaccumulation are rarely necessary. (SM)

  2. Alternative Ear-Canal Measures Related to Absorbance

    PubMed Central

    Neely, Stephen T.; Stenfelt, Stefan; Schairer, Kim S.

    2013-01-01

    Several alternative ear-canal measures are similar to absorbance in their requirement for prior determination of a Thévenin-equivalent sound source. Examples are (1) sound intensity level (SIL), (2) forward-pressure level (FPL), (3) time-domain ear-canal reflectance (TDR), and (4) cochlear reflectance (CR). These four related measures are similar to absorbance in their utilization of wide-band stimuli and their focus on recording ear-canal sound pressure. The related measures differ from absorbance in how the ear-canal pressure is analyzed and in the type of information that is extracted from the recorded response. SIL and FPL have both been shown to be better as measures of sound level in the ear canal compared to sound pressure level (SPL) because they reduced calibration errors due to standing waves in studies of behavioral thresholds and otoacoustic emissions. TDR may be used to estimate ear-canal geometry and may have the potential to assess middle-ear pathology. CR reveals information about the inner ear that is similar to what is provided by other types of otoacoustic emissions and may have theoretical advantages that strengthen its interpretation. PMID:23900185

  3. Replantation of an avulsed ear, using a single arterial anastamosis.

    PubMed

    O'Toole, G; Bhatti, K; Masood, S

    2008-01-01

    Avulsion of the ear is relatively uncommon and replantation a technical challenge. A case in which an avulsed ear was successfully replanted using a single arterial anastamosis is described. The surgical difficulties encountered, the pharmaceutical approach to postoperative care and the problems which resulted from the lack of venous drainage are discussed. PMID:18061545

  4. Dichotic listening ear preference after childhood cerebral lesions.

    PubMed

    Woods, B T

    1984-01-01

    Patients with unilateral (right or left) nonprogressive cerebral lesions acquired in infancy (before age one) or childhood (ages one to fifteen) were given a dichotic listening test. The two groups of patients with the childhood lesions showed the pattern of ear preference typically seen after hemispheric lesions in adults; loss of right ear preference after left hemisphere (LH) lesions, and enhanced right ear preference after right hemisphere (RH) lesions. The two groups of patients with the very early lesions failed to show any consistent ear preference or to differ from one another in ear preference. It is postulated that this lack of a consistent lesion effect following very early lateralized brain lesions is due to the greater degree of functional reorganization that takes place after such lesions. PMID:6462424

  5. Alpha adrenoceptors in the rabbit ear thermoregulatory microcirculation.

    PubMed

    Li, Z; Koman, L A; Smith, B P; Gordon, E S; Smith, T L

    1998-03-01

    The rabbit ear microcirculation was analyzed in a chronic unanesthetized model to evaluate alpha adrenergic microvascular control in a thermoregulatory end organ. This model allowed direct measurement of microcirculatory responses without the effects of anesthetics or inflammatory responses induced by acute surgical intervention. The ipsilateral facial artery was catheterized for drug injections into the experimental ear. Microvascular diameter changes following stimulation or blockade of adrenoceptor (AR) subtypes were observed directly through a chronic microvascular chamber implanted in the rabbit ear. Vascular alpha1- and alpha2-ARs appear to be distributed differently across the arterioles and AVAs of the rabbit ear. Both alpha1- and alpha2-ARs appear to contribute to vasoconstriction of AVAs in the conscious rabbit ear. In contrast, alpha1-AR's (vs alpha2-ARs) appear to predominate in adrenergically mediated sympathetic vasoconstriction of arterioles. PMID:9521886

  6. Ear Infection and Hearing Loss Amongst Headphone Users

    PubMed Central

    Mazlan, R.; Saim, L.; Thomas, A.; Said, R.; Liyab, B.

    2002-01-01

    The use of headphone has been thought to cause infection in the ear canal and contribute to hearing loss. In this study, we examined 136 Customer Service Representative from Celcom (Malaysia) Sdn. Bhd. who use headphone throughout their working hours. The purpose of this study was to determine the prevalence of ear canal infection and other related diseases of the ear, nose and throat. Their hearing thresholds were also determined using the Amplaid 309 Clinical Audiometer. We found no incidence of infection of the external ear canal amongst the subjects. There were 4 cases of chronic middle ear infection and 4 cases of impacted wax. Hearing impairment was found in 25 subjects (21.2%). However, there was no significant association between hearing loss and the exposure to sound from headphone usage because the high frequencies were not predominantly affected. There was also no association between hearing loss and duration of service. PMID:22844220

  7. Audiometric Predictions Using SFOAE and Middle-Ear Measurements

    PubMed Central

    Ellison, John C.; Keefe, Douglas H.

    2006-01-01

    Objective The goals of the study are to determine how well stimulus-frequency otoacoustic emissions (SFOAEs) identify hearing loss, classify hearing loss as mild or moderate-severe, and correlate with pure-tone thresholds in a population of adults with normal middle-ear function. Other goals are to determine if middle-ear function as assessed by wideband acoustic transfer function (ATF) measurements in the ear canal account for the variability in normal thresholds, and if the inclusion of ATFs improves the ability of SFOAEs to identify hearing loss and predict pure-tone thresholds. Design The total suppressed SFOAE signal and its corresponding noise were recorded in 85 ears (22 normal ears and 63 ears with sensorineural hearing loss) at octave frequencies from 0.5 – 8 kHz using a nonlinear residual method. SFOAEs were recorded a second time in three impaired ears to assess repeatability. Ambient-pressure ATFs were obtained in all but one of these 85 ears, and were also obtained from an additional 31 normal-hearing subjects in whom SFOAE data were not obtained. Pure-tone air-and bone-conduction thresholds and 226-Hz tympanograms were obtained on all subjects. Normal tympanometry and the absence of air-bone gaps were used to screen subjects for normal middle-ear function. Clinical decision theory was used to assess the performance of SFOAE and ATF predictors in classifying ears as normal or impaired, and linear regression analysis was used to test the ability of SFOAE and ATF variables to predict the air-conduction audiogram. Results The ability of SFOAEs to classify ears as normal or hearing impaired was significant at all test frequencies. The ability of SFOAEs to classify impaired ears as either mild or moderate-severe was significant at test frequencies from 0.5 to 4 kHz. SFOAEs were present in cases of severe hearing loss. SFOAEs were also significantly correlated with air-conduction thresholds from 0.5 to 8 kHz. The best performance occurred using the SFOAE

  8. Inner ear symptoms and disease: Pathophysiological understanding and therapeutic options

    PubMed Central

    Ciuman, Raphael R.

    2013-01-01

    In recent years, huge advances have taken place in understanding of inner ear pathophysiology causing sensorineural hearing loss, tinnitus, and vertigo. Advances in understanding comprise biochemical and physiological research of stimulus perception and conduction, inner ear homeostasis, and hereditary diseases with underlying genetics. This review describes and tabulates the various causes of inner ear disease and defines inner ear and non-inner ear causes of hearing loss, tinnitus, and vertigo. The aim of this review was to comprehensively breakdown this field of otorhinolaryngology for specialists and non-specialists and to discuss current therapeutic options in distinct diseases and promising research for future therapies, especially pharmaceutic, genetic, or stem cell therapy. PMID:24362017

  9. Chronic discharging ear in a child: are we missing something?

    PubMed

    Dutta, Mainak; Ghatak, Soumya; Biswas, Gautam

    2013-08-01

    Chronic discharging ear, mostly due to middle or external ear infection, is one of the leading causes for seeking healthcare among the paediatric population in a developing country. However, a long-standing forgotten middle ear foreign body forms a rare cause for such presentation demanding a high index of suspicion from the clinicians. Most of them are iatrogenic or accidental, and are removed by conventional permeatal approach; need for tympanotomy is rarely documented in the recent literature. We report the first case where a large stone was introduced into the middle ear through a pre-existing tympanic membrane perforation by the child himself, and only the second documentation of removal of a middle ear foreign body by tympanotomy in a child. PMID:24145273

  10. "Play It by Ear"--Teachers' Responses to Ear-Playing Tasks during One-to-One Instrumental Lessons

    ERIC Educational Resources Information Center

    Varvarigou, Maria

    2014-01-01

    This paper reports findings from the Ear-Playing Project in relation to the teaching strategies that 15 instrumental teachers adopted during one-to-one instrumental lessons whilst helping their students to copy music by ear from a recording. Overall, the teachers used a variety of strategies including singing and humming along with or without the…

  11. Relapsing Polychondritis: Inflamed Joints and Ears

    PubMed Central

    Melikoğlu, Meltem Alkan; Şenel, Kazım

    2015-01-01

    Background: Relapsing polychondritis (RP) is an episodic and progressive inflammatory disease of the cartilaginous structures, including elastic cartilage of the ear and nose, hyaline cartilage of the peripheral joints, fibrocartilage at axial sites, and cartilage of the tracheo-bronchial tree. The spectrum of its presentations may vary from intermittent mild episodes of chondritis to occasional organ involvement or even life-threatening manifestations. Case Report: We presented a 64 year-old male patient with bilaterally knee arthritis and discoloration of pinna. Conclusion: There is lack of awareness about this disease due to its rarity. With this case presentation, our goal was to draw attention to this disease, which could be delayed for the diagnosis. PMID:25759785

  12. Mechanics of the exceptional anuran ear

    PubMed Central

    Segenhout, Johannes M.; van Dijk, Pim

    2008-01-01

    The anuran ear is frequently used for studying fundamental properties of vertebrate auditory systems. This is due to its unique anatomical features, most prominently the lack of a basilar membrane and the presence of two dedicated acoustic end organs, the basilar papilla and the amphibian papilla. Our current anatomical and functional knowledge implies that three distinct regions can be identified within these two organs. The basilar papilla functions as a single auditory filter. The low-frequency portion of the amphibian papilla is an electrically tuned, tonotopically organized auditory end organ. The high-frequency portion of the amphibian papilla is mechanically tuned and tonotopically organized, and it emits spontaneous otoacoustic emissions. This high-frequency portion of the amphibian papilla shows a remarkable, functional resemblance to the mammalian cochlea. PMID:18386018

  13. Fish ears are sensitive to sex change

    PubMed Central

    Walker, Stefan P.W.; McCormick, Mark I.

    2008-01-01

    Many reef fishes change sex during their life. The testing of life-history theory and effective fisheries management therefore relies on our ability to detect when this fundamental transition occurs. This study experimentally illustrates the potential to glean such information from the otolithic bodies of the inner-ear apparatus in the sex-changing fish Parapercis cylindrica. It will now be possible to reconstruct the complete, often complex life history of hermaphroditic individuals from hatching through to terminal reproductive status. The validation of sex-change associated otolith growth also illustrates the potential for sex-specific sensory displacement. It is possible that sex-changing fishes alter otolith composition, and thus sensory-range specificity, to optimize life history in accordance with their new reproductive mode. PMID:19033133

  14. Beyond the middle ear: endoscopic surgical anatomy and approaches to inner ear and lateral skull base.

    PubMed

    Presutti, Livio; Nogueira, João Flávio; Alicandri-Ciufelli, Matteo; Marchioni, Daniele

    2013-04-01

    Currently, the main application of endoscopic surgery relies on the middle ear cholesteatoma surgical treatment. However, in the natural evolution of the technique there are the steps toward of lateral skull base surgery and treatment of pathologic conditions of pertous bone. The endoscopic approaches to lateral skull base are (1) a transcanal exclusively endoscopic approach or (2) combined approaches (microscopic endoscope-assisted), including transotic, infralabyrinthine, and suprameatal translabyrinthine. PMID:23566905

  15. Passage of albumin from the middle ear to the inner ear in otitis media in the chinchilla

    SciTech Connect

    Goldberg, B.; Goycoolea, M.V.; Schleivert, P.M.; Shea, D.; Schachern, P.; Paparella, M.M.; Carpenter, A.M.

    1981-08-01

    A study of the permeability of the middle ear-inner ear interface for macromolecules was carried out in chinchillas with open and obstructed eustachian tubes utilizing tritiated human serum albumin and immunoelectrophoresis. Tritiated albumin was placed in the round window niche area or normal animals and animals in which the eustachian tubes had been obstructed for 24 hours or 14 days. The tritiated albumin was allowed to remain in the middle ear cavity for 24 hours, Samples of middle ear effusion, perilymph, blood and cerebrospinal fluid were collected and measured for radioactivity. Radioactivity was demonstrated in the perilymph. Samples of middle ear effusions and perilymph were also studied by immunoelectrophoresis with goat antihuman albumin. Albumin placed in the round window niche of an experimental animal could be recovered unchanged in the perilymph. The results suggest a pathophysiologic explanation for the association of otitis media and sensorineural hearing loss or endolymphatic hydrops.

  16. Behavioral effects of congenital ventromedial prefrontal cortex malformation

    PubMed Central

    2011-01-01

    Background A detailed behavioral profile associated with focal congenital malformation of the ventromedial prefrontal cortex (vmPFC) has not been reported previously. Here we describe a 14 year-old boy, B.W., with neurological and psychiatric sequelae stemming from focal cortical malformation of the left vmPFC. Case Presentation B.W.'s behavior has been characterized through extensive review Patience of clinical and personal records along with behavioral and neuropsychological testing. A central feature of the behavioral profile is severe antisocial behavior. He is aggressive, manipulative, and callous; features consistent with psychopathy. Other problems include: egocentricity, impulsivity, hyperactivity, lack of empathy, lack of respect for authority, impaired moral judgment, an inability to plan ahead, and poor frustration tolerance. Conclusions The vmPFC has a profound contribution to the development of human prosocial behavior. B.W. demonstrates how a congenital lesion to this cortical region severely disrupts this process. PMID:22136635

  17. Congenital pulmonary airway malformation: A report of two cases

    PubMed Central

    Bolde, Saroj; Pudale, Smita; Pandit, Gopal; Ruikar, Kirti; Ingle, Sachin B

    2015-01-01

    Congenital pulmonary airway malformation (CPAM), previously known as congenital cystic adenomatoid malformation is a congenital disorder of the lung similar to bronchopulmonary sequestration. In CPAM, usually an entire lobe of lung is replaced by a non-working cystic piece of abnormal lung tissue. This abnormal tissue will never function as normal lung tissue. The underlying cause for CPAM is not known. It occurs in approximately 1 in every 30000 pregnancies. The association between CPAM and malignancy has been well documented. There is a small risk (0.7%) of malignant transformation within the cyst. So early diagnosis and surgical resection is important to prevent the grave complications. Herein, we are reporting two interesting cases of CPAM and one belonged to Type II and other belonged to Type III of Stocker’s classification. PMID:25984523

  18. Spontaneous thrombosis of a vein of galen malformation.

    PubMed

    Mohanty, Chandan B; Srinivas, Dwarakanath; Sampath, Somanna

    2016-01-01

    Vein of Galen malformation (VOGM) is a rare congenital vascular anomaly, comprising about 1% of all intracranial vascular anomalies, predominantly affecting the children less than 1 year of age. A 6-month-old infant presented with complaints of increasing head size of 3 months duration and multiple episodes of vomiting associated with refusal to feed since 7 days. He was a known case of VOGM who had initially refused treatment. Investigations revealed a spontaneously thrombosed VOGM with obstructive hydrocephalous. Child improved uneventfully with ventriculoperitoneal shunt. Spontaneous thrombosis of a VOGM is a rare occurrence and carries a better prognosis. The relevant literature is discussed with emphasis on etiopathogenesis, mechanism, and management of spontaneous thrombosis of the malformation. PMID:26889287

  19. Spontaneous thrombosis of a vein of galen malformation

    PubMed Central

    Mohanty, Chandan B.; Srinivas, Dwarakanath; Sampath, Somanna

    2016-01-01

    Vein of Galen malformation (VOGM) is a rare congenital vascular anomaly, comprising about 1% of all intracranial vascular anomalies, predominantly affecting the children less than 1 year of age. A 6-month-old infant presented with complaints of increasing head size of 3 months duration and multiple episodes of vomiting associated with refusal to feed since 7 days. He was a known case of VOGM who had initially refused treatment. Investigations revealed a spontaneously thrombosed VOGM with obstructive hydrocephalous. Child improved uneventfully with ventriculoperitoneal shunt. Spontaneous thrombosis of a VOGM is a rare occurrence and carries a better prognosis. The relevant literature is discussed with emphasis on etiopathogenesis, mechanism, and management of spontaneous thrombosis of the malformation. PMID:26889287

  20. Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformation.

    PubMed

    Zaki, Maha S; Saleem, Sahar N; Dobyns, William B; Barkovich, A James; Bartsch, Hauke; Dale, Anders M; Ashtari, Manzar; Akizu, Naiara; Gleeson, Joseph G; Grijalvo-Perez, Ana Maria

    2012-08-01

    We describe six cases from three unrelated consanguineous Egyptian families with a novel characteristic brain malformation at the level of the diencephalic-mesencephalic junction. Brain magnetic resonance imaging demonstrated a dysplasia of the diencephalic-mesencephalic junction with a characteristic 'butterfly'-like contour of the midbrain on axial sections. Additional imaging features included variable degrees of supratentorial ventricular dilatation and hypoplasia to complete agenesis of the corpus callosum. Diffusion tensor imaging showed diffuse hypomyelination and lack of an identifiable corticospinal tract. All patients displayed severe cognitive impairment, post-natal progressive microcephaly, axial hypotonia, spastic quadriparesis and seizures. Autistic features were noted in older cases. Talipes equinovarus, non-obstructive cardiomyopathy and persistent hyperplastic primary vitreous were additional findings in two families. One of the patients required shunting for hydrocephalus; however, this yielded no change in ventricular size suggestive of dysplasia rather than obstruction. We propose the term 'diencephalic-mesencephalic junction dysplasia' to characterize this autosomal recessive malformation. PMID:22822038

  1. Pediatric lymphatic malformations: evolving understanding and therapeutic options.

    PubMed

    Defnet, Ann M; Bagrodia, Naina; Hernandez, Sonia L; Gwilliam, Natalie; Kandel, Jessica J

    2016-05-01

    Multimodal treatment of lymphatic malformations continues to expand as new information about the biology and genetics of these lesions is discovered, along with knowledge gained from clinical practice. A patient-centered approach, ideally provided by a multidisciplinary medical and surgical team, should guide timing and modality of treatment. Current treatment options include observation, surgery, sclerotherapy, radiofrequency ablation, and laser therapy. New medical and surgical therapies are emerging, and include sildenafil, propranolol, sirolimus, and vascularized lymph node transfer. The primary focus of management is to support and optimize these patients' quality of life. Researchers continue to study lymphatic malformations with the goal of increasing therapeutic options and developing effective clinical pathways for these complicated lesions. PMID:26815877

  2. [Congenital vascular malformations: epidemiology, classification and therapeutic basis].

    PubMed

    Pereira Albino, J

    2010-01-01

    Congenital vascular malformations are part of the rare diseases of angiology and vascular surgery and can present in a variety of forms. They rise a lot of doubts and many diagnostic and therapeutic challenges. Treatment options are widely variable and often debated; surgeons usually have doubts about the best procedure to adopt. It is also an area of great anatomic and functional variability where the confusion regarding the nomenclature and classifications has been frequent, rendering difficult to adopt standardized measures. There have been significant advances in the recent years towards reaching a consensus. Based on his practical clinical experience and past work on these issues, the author reviews the epidemiology, the classifications and the therapeutic basis of this pathology. The author emphasizes the fact that the International Society for the Study of Vascular Anomalies (ISSVA) classification provides a useful framework for classifying vascular anomalies, as well as the therapeutic percutaneous embolization using polidocanol foam to control venous malformations. PMID:20972487

  3. Ischaemic stroke with intact atrial septum--exclude arteriovenous malformations.

    PubMed

    Doering, Friederike; Eicken, Andreas; Hess, John

    2014-02-01

    A 44-year-old woman was referred to our centre for interventional cardiac catheterisation. The diagnostic work-up after a preceding ischaemic stroke led to the assumption of a patent foramen ovale due to a positive bubble study. Before the planned percutaneous closure of the patent foramen ovale, we performed a second bubble study, which showed an intact atrial septum. However, after two to three heart cycles bubbles could be detected in the left atrium, assuming a right-to-left shunt of an extracardiac origin most likely in the lung. We therefore performed cardiac catheterisation, yielding a pulmonary arteriovenous malformation in the lower lobe of the right lung. This was successfully closed interventionally by placing a Cook coil, as well as several plugs into the malformation and feeding vessels. PMID:23347820

  4. Zwislocki's model of the middle ear re-visited

    NASA Astrophysics Data System (ADS)

    Withnell, Robert H.; Fields, Taylor N.

    2015-12-01

    Zwislocki's circuit model of the middle ear [11] has been used, in original or modified form, in subsequent studies modeling the ear [4, 6]. The model includes two eardrum modes of vibration, a shunt for flexible coupling between the incus and stapes, and a single tuned oscillator for ossicular vibration. The contribution of each of these mechanisms was examined by fitting a model of the ear to acoustic input impedance data from healthy human ears. The circuit elements for a non-ossicular eardrum vibration and a flexible coupling between the incus and stapes were found to be detrimental or non-essential for the model-fit-to-data. A single mode of eardrum vibration for sound transmission to the middle ear is consistent with the eardrum acting as an impedance-matching device, with pars-tensa eardrum vibration coupled to the ossicles [1]. A single-tuned oscillator was insufficient to account for the bandwidth of the ear. The frequency response of the ear suggests multiple resonant modes of ossicular vibration.

  5. Comparison of Tympanoplasty Results in Dry and Wet Ears

    PubMed Central

    Naderpour, Masoud; Shahidi, Nikzad; Hemmatjoo, Taghi

    2016-01-01

    Introduction: Tympanoplasty is the standard and well established procedure for closure of tympanic membrane perforations .This paper compares the results of tympanoplasty in terms of hearing improvement and graft incorporation in patients with chronic perforation of the tympanic membrane between two groups with and without active drainage at the time of surgery. Materials and Methods: Sixty referring patients to specialty and subspecialty clinics between the age 15 to 60 years-old were selected. All patients suffered from Chronic Otitis Media and they were categorized into two groups: a) those with wet ears and b) those with dry ears. Tympanoplasty surgery was performed through the use of embedding technique of temporalis fascia graft and in medial position (Medial Graft Technique). Finally, the data about the level of hearing improvement and the repair of tympanic membrane were analyzed. Results: Although there was hearing improvement in both groups - with wet or dry ear - no statistically significant difference was observed between two groups. Following the surgery, tympanic membrane in two patients with wet ear and one with dry ear was not repaired, however according to the statistical analysis this difference was not significant. Conclusion: The results of this study showed that in contrast to the common perception that tympanoplasty results in the patients with wet ear is poorer than those with dry ear, there was little difference in the results of the operations performed on two groups. PMID:27429950

  6. Urorectal septum malformation sequence in a newborn with VACTERL association.

    PubMed

    Patra, Soumya; Purkait, Radheshyam

    2012-02-01

    Urorectal septum malformation sequence (URSMS) is an extremely rare anomaly, consists of multiple system anomalies including ambiguous genitalia, absence of a perineal opening, an imperforate anus, and urological, colonic and lumbosacral defects. We describe a newborn with characteristic URSMS who also had features of congenital varus deformity of leg, polydactyly, tracheo-oesophageal fistula, cardiac defect, anal atresia and hydronephrosis in antenatal ultrasound characteristic of VACTERL association. PMID:22313652

  7. [Combined treatment of arteriovenous malformations of the head and neck].

    PubMed

    Galich, S P; Dabizha, A Iu; Gindich, O A; Ogorodnik, Ia P; Al'tman, I V; Gomoliako, I V; Guch, A A

    2015-01-01

    An arteriovenous malformation (AVM) is a vascular developmental abnormality conditioned by impaired embryonic morphogenesis and characterized by the development of an abnormal connection between arteries and veins. More than 50% of the total number of patients suffering from this pathology are those having the pathological foci localizing in the area of the head and neck. At present, a combined method is both a generally accepted and the most radical one used for treatment for AVM. However, in the majority of cases, excision of the malformation leaves an extensive and complicated defect of tissues, whose direct closure leads to coarse cicatricious deformities. Over the period from 2004 to 2012, we followed up a total of 37 patients presenting with arteriovenous malformations of the head and neck. At admission the patients underwent preoperative examination including clinical tests, ultrasound duplex scanning, arteriography, MRT, and computed tomography. 24-72 hours prior to the operative intervention the patients were subjected to embolisation of the main vessels supplying the vascular malformation. Excision of the AVM was in 8 cases followed by primary closure of the postoperative wound, in 17 patients the defect was closed by transposition of the axial flaps, and 12 subjects underwent free transplantation of composite complexes of tissues. Relapse of the disease was revealed in 17 patients. In the majority of cases, relapses developed during the first year after the operative intervention (10 cases). The control of the disease's course was obtained in 20 patients. In 8 of the 12 patients with free transplantation of flaps we managed to obtain long-term control over the disease's course (more than 5 years). Hence, free microsurgical transplantation of compound complexes of tissues may be considered as a method of choice for closing the defect after excising an AVM in the area of the head and neck. Replacement of the defect with a well-vascularized tissue complex

  8. Radiosurgery for cerebral arteriovenous malformations in hereditary hemorrhagic telangiectasia.

    PubMed

    Maarouf, M; Runge, M; Kocher, M; Zähringer, M; Treuer, H; Sturm, V

    2004-07-27

    The authors evaluated the efficacy of radiosurgery (RS) for cerebral arteriovenous malformations in hereditary hemorrhagic telangiectasia (HHT AVMs). Two patients with seven HHT AVMs were treated by linear accelerator-RS. Complete obliteration was achieved 18 to 24 months post-treatment without side effects. Because HHT AVMs are small and multiple, RS is superior to microsurgery because it is noninvasive and all AVMs can be treated in one session regardless of their location. PMID:15277641

  9. Gated magnetic resonance imaging of congenital cardiac malformations

    SciTech Connect

    Fletcher, B.D.; Jocobstein, M.D.; Nelson, A.D.; Riemenschneider, T.A.; Alfidi, R.J.

    1984-01-01

    Magnetic resonance (MR) images of a variety of cardiac malformations in 19 patients aged 1 week to 33 years were obtained using pulse plethysmographic- or ECG-gated spin echo pulse sequences. Coronal, axial, and sagittal images displaying intracardiac structures with excellent spatial and contrast resolution were acquired during systole or diastole. It is concluded that MR will be a valuable noninvasive method of diagnosing congenital heart disease.

  10. Congenital malformations: an inquiry into classification and nomenclature.

    PubMed Central

    Kalter, H

    1998-01-01

    In the beginning, as a familiar book recalls, the earth was a formless void. And by separating light from dark, water from sky, life from dust, order came forth. Thus appeared organisation and categorisation. This is to say, classification, since to classify is to make for order and clarity. These are the qualities needed today for the study of congenital malformations and eventual control of their occurrence. What follows is an inquiry into the present state of this desideratum. PMID:9719373

  11. Parental perceptions of congenital cardiovascular malformations in their children.

    PubMed

    Ezzat, Sameera; Saeedi, Osamah; Saleh, Doa'a A; Hamzeh, Hala; Hamid, Mohamed A; Crowell, Nancy; Boostrom, Camille; Loffredo, Christopher A; Jillson, Irene A

    2016-08-01

    We assessed parental attitudes towards congenital cardiovascular malformations in their children in a cross-sectional study in Egypt. Parents face many problems related to concerns about their child's prognosis, but these associations with parental stress have never been evaluated in Egypt or examined in relation to religiosity in a predominantly Muslim society. Accordingly, we conducted interviews in Cairo with mothers of 99 sequential infants born with conotruncal heart malformations (cases) and 65 mothers of age-matched controls. The survey assessed healthcare access and usage, knowledge of congenital cardiovascular malformations, religiosity, the Locus of Control Scale, and the Parenting Stress Index. Results showed that 45% of the mothers of cases had correct knowledge about their child's diagnosis; 85% were satisfied with the clinical care; and 79% reported that the cost of care was burdensome. Compared with parents of cases, parents of controls were more likely to report stress overall and all its subscales. Regarding belief about locus of control over health, God as a determining factor was given the highest endorsement. Mothers in the congenital cardiovascular malformations group reported a higher level of parental locus of control than did those in the control group. The correlations between stress and locus of control were stronger in the control than in the case group. Religiosity was related neither to stress nor to locus of control. Future studies can explore the roles that personal, familial, and societal factors play in exacerbating or reducing stress levels among parents of sick children, particularly in developing countries where economic pressures are acute. PMID:26561359

  12. Thoracoscopic anatomical resection of congenital lung malformations in adults

    PubMed Central

    Macias, Lidia; Ojanguren, Amaia; Dahdah, Julien

    2015-01-01

    Congenital lung malformations (CLM) are a heterogeneous group of disorders that may require surgical resection to prevent complications. Thoracoscopic resection of CLM has been reported in infants. Our goal was to state whether it can also be a viable option in adults. Between 2007 and 2014, 11 patients had a thoracoscopic resection of a CLM (six lobectomies and five anatomic segmentectomies) with satisfactory results. Although being more challenging in adults due to infectious sequellae, this approach is safe. PMID:25922729

  13. Headache and Chiari I Malformation in Children and Adolescents.

    PubMed

    Victorio, M Cristina; Khoury, Chaouki K

    2016-02-01

    Headache is a common problem in children and adolescents. Its recurrent and disabling nature may lead to use of neuroimaging to exclude secondary causes of headache such as Chiari I malformation (CM I). CM I has a variety of presentation with headache being the most common symptom. CM I can be asymptomatic and is also often found incidentally in neuroimaging done for conditions other than headache. This article reviews the spectrum of headache in patients with CM I. PMID:27017020

  14. [Anorectal malformations: their diagnosis and the initial decisions].

    PubMed

    de Espinosa, H

    1994-05-01

    The author presents the salient aspects of anorectal malformation which allow us to simplify their anatomical diagnosis. In many cases only clinical means are used while in others adequate use of technical studies are necessary. This enables us to reach therapeutic decisions in the simplest and most orderly fashion so that patients with these anomalies may be given the opportunity of attaining normal or near normal function. PMID:7991806

  15. Novel Image-Guided Management of a Uterine Arteriovenous Malformation

    SciTech Connect

    Przybojewski, Stefan J. Sadler, David J.

    2011-02-15

    The investigators present a novel image-guided embolization, not previously described, of a uterine arteriovenous malformation (AVM) resistant to endovascular management. The uterus was exposed surgically, and Histoacryl (Braun, Fulda, Germany) was injected directly into the nidus using ultrasound guidance and fluoroscopy. The patient had a successful full-term pregnancy after this procedure. This technique may be a useful alternative management strategy in patients with uterine AVM who fail traditional endovascular embolization and who still desire fertility.

  16. Decrease in Middle Ear Resonance Frequency During Pregnancy.

    PubMed

    Dag, Emine Kutlu; Gulumser, Cagri; Erbek, Seyra

    2016-04-20

    Many physiological changes occur during pregnancy. The aim of the study was to reveal whether there is a change in middle ear resonance frequency during pregnancy. A prospective case-control study was designed at a tertiary referral center. The study included 46 pregnant women at the third trimester (27-40 weeks) and 43 nonpregnant voluntary women. All the study subjects underwent pure-tone audiometry and multifrequency tympanometry. Pure-tone hearing levels at frequencies of 250 to 8000 Hz and resonance frequency values were compared between pregnant and nonpregnant women. Impact of age, side of the tested ear, and weight gained in pregnancy on resonance frequency were evaluated. Air conduction threshold values at frequencies of 250 Hz and 500 Hz were significantly higher in pregnant women than in the control group (P<0.001). Middle ear resonance frequency values of both ears in pregnant women were found to be significantly lower than those in control group (P<0.001). There was no statistically significant relation of middle ear resonance frequency values to age or side of the tested ear in both groups (P>0.05). A negative correlation between weight gained in pregnancy and middle ear resonance frequency values was determined for the left ear (correlation coefficient for left ears: -0.348, P=0.018). The results of this study suggest that resonance frequency may be decreased during the pregnancy. More comprehensive studies in which many pregnant women followed regularly before and after pregnancy are needed to have more certain links. PMID:27588163

  17. Decrease in Middle Ear Resonance Frequency During Pregnancy

    PubMed Central

    Dag, Emine Kutlu; Gulumser, Cagri; Erbek, Seyra

    2016-01-01

    Many physiological changes occur during pregnancy. The aim of the study was to reveal whether there is a change in middle ear resonance frequency during pregnancy. A prospective case-control study was designed at a tertiary referral center. The study included 46 pregnant women at the third trimester (27-40 weeks) and 43 nonpregnant voluntary women. All the study subjects underwent pure-tone audiometry and multifrequency tympanometry. Pure-tone hearing levels at frequencies of 250 to 8000 Hz and resonance frequency values were compared between pregnant and nonpregnant women. Impact of age, side of the tested ear, and weight gained in pregnancy on resonance frequency were evaluated. Air conduction threshold values at frequencies of 250 Hz and 500 Hz were significantly higher in pregnant women than in the control group (P<0.001). Middle ear resonance frequency values of both ears in pregnant women were found to be significantly lower than those in control group (P<0.001). There was no statistically significant relation of middle ear resonance frequency values to age or side of the tested ear in both groups (P>0.05). A negative correlation between weight gained in pregnancy and middle ear resonance frequency values was determined for the left ear (correlation coefficient for left ears: –0.348, P=0.018). The results of this study suggest that resonance frequency may be decreased during the pregnancy. More comprehensive studies in which many pregnant women followed regularly before and after pregnancy are needed to have more certain links. PMID:27588163

  18. 3D ear identification based on sparse representation.

    PubMed

    Zhang, Lin; Ding, Zhixuan; Li, Hongyu; Shen, Ying

    2014-01-01

    Biometrics based personal authentication is an effective way for automatically recognizing, with a high confidence, a person's identity. Recently, 3D ear shape has attracted tremendous interests in research field due to its richness of feature and ease of acquisition. However, the existing ICP (Iterative Closet Point)-based 3D ear matching methods prevalent in the literature are not quite efficient to cope with the one-to-many identification case. In this paper, we aim to fill this gap by proposing a novel effective fully automatic 3D ear identification system. We at first propose an accurate and efficient template-based ear detection method. By utilizing such a method, the extracted ear regions are represented in a common canonical coordinate system determined by the ear contour template, which facilitates much the following stages of feature extraction and classification. For each extracted 3D ear, a feature vector is generated as its representation by making use of a PCA-based local feature descriptor. At the stage of classification, we resort to the sparse representation based classification approach, which actually solves an l1-minimization problem. To the best of our knowledge, this is the first work introducing the sparse representation framework into the field of 3D ear identification. Extensive experiments conducted on a benchmark dataset corroborate the effectiveness and efficiency of the proposed approach. The associated Matlab source code and the evaluation results have been made publicly online available at http://sse.tongji.edu.cn/linzhang/ear/srcear/srcear.htm. PMID:24740247

  19. Human fetal inner ear involvement in congenital cytomegalovirus infection

    PubMed Central

    2013-01-01

    Background Congenital cytomegalovirus (CMV) infection is a leading cause of sensorineural hearing loss (SNHL). The mechanisms of pathogenesis of CMV-related SNHL are still unclear. The aim is to study congenital CMV-related damage in the fetal inner ear, in order to better understand the underlying pathophysiology behind CMV-SNHL. Results We studied inner ears and brains of 20 human fetuses, all at 21 week gestational age, with a high viral load in the amniotic fluid, with and without ultrasound (US) brain abnormalities. We evaluated histological brain damage, inner ear infection, local inflammatory response and tissue viral load. Immunohistochemistry revealed that CMV was positive in 14/20 brains (70%) and in the inner ears of 9/20 fetuses (45%). In the cases with inner ear infection, the marginal cell layer of the stria vascularis was always infected, followed by infection in the Reissner’s membrane. The highest tissue viral load was observed in the inner ear with infected Organ of Corti. Vestibular labyrinth showed CMV infection of sensory cells in the utricle and in the crista ampullaris. US cerebral anomalies were detected in 6 cases, and in all those cases, the inner ear was always involved. In the other 14 cases with normal brain scan, histological brain damage was present in 8 fetuses and 3 of them presented inner ear infection. Conclusions CMV-infection of the marginal cell layer of the stria vascularis may alter potassium and ion circulation, dissipating the endocochlear potential with consequent SNHL. Although abnormal cerebral US is highly predictive of brain and inner ear damage, normal US findings cannot exclude them either. PMID:24252374

  20. Congenital malformations of the central nervous system in spontaneous abortions.

    PubMed Central

    Creasy, M R; Alberman, E D

    1976-01-01

    A study of 2620 pregnancies ending in spontaneous abortion revealed a CNS defect in 3.6% of embryos and fetuses, and 3% of all complete conceptuses. The type of malformation observed varied with the gestational age at expulsion, encephaloceles being predominant in earlier specimens, while more typical anencephalus and spina bifida were more common among later abortions. Chromosome abnormalities were found in 40% of abortuses with CNS defects, but were almost entirely confined to those which were still at the embryonic stage of development. 53% of the latter were chromosomally abnormal, which is the same as the proportion found among embryos without a CNS malformation. Using published life-tables of recognized pregnancies it was estimated that the prevalence of anencephalus, spina bifida, or related malformation (other than hydrocephalus), without a chromosome anomaly, is 5.3 per thousand conceptuses at the beginning of the eighth week of gestation. By comparing this with the prevalence in total births, it was further estimated that only 24% of these are born alive, with 54% aborting spontaneously and 22% being stillborn. PMID:775092

  1. Environmental monitoring using malformed embryos of the amphipod Monoporeia affinis

    SciTech Connect

    Sundelin, B.; Eriksson, A.K.

    1995-12-31

    Reproduction variables of Monoporeia affinis, such as embryonic malformation were confirmed as the most sensitive variable, when soft bottom microcosms were exposed to metals such as cadmium and lead, arsenic, organic compounds such as 4,5,6 trichloroguaiacol, contaminated sediment from areas impacted by heavy metals and pulp mill effluents. The effects were demonstrated also in low concentrations that did not significantly affect the meiofauna community. The microcosm test-system with high ecological realism could offer a possibility to translate laboratory results to the natural environments. Field surveys outside different types of pulp mills and metal works on the coast of the Gulf of Bothnia have confirmed the laboratory results. Significantly higher levels of malformed embryos of Monoporeia affinis were demonstrated in the impacted areas in comparison with reference areas. The reproduction variables of Monoporeia affinis have been used in the national environmental monitoring program during two years and results indicated possibilities to distinguish between effects of xenobiotica and secondary eutrophication effects, such as unsaturated oxygen condition and occurrence of sulfides, which resulted in increased frequencies of dead eggs but not affected the frequencies of malformed eggs and embryos.

  2. Acute Porphyria in a Patient with Arnold Chiari Malformation

    PubMed Central

    Shen, Jianbin; O’Keefe, Kevin; Webb, Lisa B.; DeGirolamo, Angela

    2015-01-01

    Patient: Female, 33 Final Diagnosis: Acute porphyria Symptoms: Abdominal pain • alternating bowel habits Medication: Metronidazole • bactrim • oxybutynin Clinical Procedure: EMG • porhyria workup Specialty: Neurology Objective: Rare disease Background: Acute porphyria and Arnold Chiari malformation are both uncommon genetic disorders without known association. The insidious onset, non-specific clinical manifestations, and precipitating factors often cause diagnosis of acute porphyria to be missed, particularly in patients with comorbidities. Case Report: A women with Arnold Chiari malformation type II who was treated with oxybutynin and antibiotics, including Bactrim for neurogenic bladder and recurrent urinary tract infection, presented with non-specific abdominal pain, constipation, and diarrhea. After receiving Flagyl for C. difficile colitis, the patient developed psychosis, ascending paralysis, and metabolic derangements. She underwent extensive neurological workup due to her congenital neurological abnormalities, most of which were unremarkable. As a differential diagnosis of Guillain Barré syndrome, acute porphyria was then considered and ultimately proved to be the diagnosis. After hematin administration and intense rehabilitation, the patient slowly recovered from the full-blown acute porphyria attack. Conclusions: This case report, for the first time, documents acute porphyria attack as a result of a sequential combination of 3 common medications. This is the first case report of the concomitant presence of both acute porphyria and Arnold Chiari malformation, 2 genetic disorders with unclear association. PMID:25697467

  3. Sonographic markers for early diagnosis of fetal malformations

    PubMed Central

    Renna, Maria Daniela; Pisani, Paola; Conversano, Francesco; Perrone, Emanuele; Casciaro, Ernesto; Renzo, Gian Carlo Di; Paola, Marco Di; Perrone, Antonio; Casciaro, Sergio

    2013-01-01

    Fetal malformations are very frequent in industrialized countries. Although advanced maternal age may affect pregnancy outcome adversely, 80%-90% of fetal malformations occur in the absence of a specific risk factor for parents. The only effective approach for prenatal screening is currently represented by an ultrasound scan. However, ultrasound methods present two important limitations: the substantial absence of quantitative parameters and the dependence on the sonographer experience. In recent years, together with the improvement in transducer technology, quantitative and objective sonographic markers highly predictive of fetal malformations have been developed. These markers can be detected at early gestation (11-14 wk) and generally are not pathological in themselves but have an increased incidence in abnormal fetuses. Thus, prenatal ultrasonography during the second trimester of gestation provides a “genetic sonogram”, including, for instance, nuchal translucency, short humeral length, echogenic bowel, echogenic intracardiac focus and choroid plexus cyst, that is used to identify morphological features of fetal Down’s syndrome with a potential sensitivity of more than 90%. Other specific and sensitive markers can be seen in the case of cardiac defects and skeletal anomalies. In the future, sonographic markers could limit even more the use of invasive and dangerous techniques of prenatal diagnosis (amniocentesis, etc.). PMID:24179631

  4. Pathophysiological analyses of cortical malformation using gyrencephalic mammals.

    PubMed

    Masuda, Kosuke; Toda, Tomohisa; Shinmyo, Yohei; Ebisu, Haruka; Hoshiba, Yoshio; Wakimoto, Mayu; Ichikawa, Yoshie; Kawasaki, Hiroshi

    2015-01-01

    One of the most prominent features of the cerebral cortex of higher mammals is the presence of gyri. Because malformations of the cortical gyri are associated with severe disability in brain function, the mechanisms underlying malformations of the cortical gyri have been of great interest. Combining gyrencephalic carnivore ferrets and genetic manipulations using in utero electroporation, here we successfully recapitulated the cortical phenotypes of thanatophoric dysplasia (TD) by expressing fibroblast growth factor 8 in the ferret cerebral cortex. Strikingly, in contrast to TD mice, our TD ferret model showed not only megalencephaly but also polymicrogyria. We further uncovered that outer radial glial cells (oRGs) and intermediate progenitor cells (IPs) were markedly increased. Because it has been proposed that increased oRGs and/or IPs resulted in the appearance of cortical gyri during evolution, it seemed possible that increased oRGs and IPs underlie the pathogenesis of polymicrogyria. Our findings should help shed light on the molecular mechanisms underlying the formation and malformation of cortical gyri in higher mammals. PMID:26482531

  5. Pathophysiological analyses of cortical malformation using gyrencephalic mammals

    PubMed Central

    Masuda, Kosuke; Toda, Tomohisa; Shinmyo, Yohei; Ebisu, Haruka; Hoshiba, Yoshio; Wakimoto, Mayu; Ichikawa, Yoshie; Kawasaki, Hiroshi

    2015-01-01

    One of the most prominent features of the cerebral cortex of higher mammals is the presence of gyri. Because malformations of the cortical gyri are associated with severe disability in brain function, the mechanisms underlying malformations of the cortical gyri have been of great interest. Combining gyrencephalic carnivore ferrets and genetic manipulations using in utero electroporation, here we successfully recapitulated the cortical phenotypes of thanatophoric dysplasia (TD) by expressing fibroblast growth factor 8 in the ferret cerebral cortex. Strikingly, in contrast to TD mice, our TD ferret model showed not only megalencephaly but also polymicrogyria. We further uncovered that outer radial glial cells (oRGs) and intermediate progenitor cells (IPs) were markedly increased. Because it has been proposed that increased oRGs and/or IPs resulted in the appearance of cortical gyri during evolution, it seemed possible that increased oRGs and IPs underlie the pathogenesis of polymicrogyria. Our findings should help shed light on the molecular mechanisms underlying the formation and malformation of cortical gyri in higher mammals. PMID:26482531

  6. Surgical and Endovascular Treatment for Spinal Arteriovenous Malformations

    PubMed Central

    ENDO, Toshiki; ENDO, Hidenori; SATO, Kenichi; MATSUMOTO, Yasushi; TOMINAGA, Teiji

    2016-01-01

    Spinal arteriovenous malformation (AVM) is a broad term that constitutes diverse vascular pathologies. To date, various classification schemes for spinal AVM have been proposed in literature, which helped neurosurgeons understand the pathophysiology of the disease and determine an optimal treatment strategy. To discuss indications and results of surgical and endovascular interventions for spinal AVM, this article refers to the following classification proposed by Anson and Spetzler in 1992: type I, dural arteriovenous fistula (AVF); type II, glomus intramedullary AVM; type III, juvenile malformations; and type IV, perimedullary AVF. In general, complete obliteration of the fistula is a key for better outcome in type I dural and type IV perimedullary AVFs. On the other hand, in type II glomus and type III juvenile malformations, functional preservation, instead of pursuing angiographical cure, is the main goal of the treatment. In such cases, reduction of the shunt flow can alleviate clinical symptoms. Proper management of spinal AVM should start with neurological examination and understanding of angioarchitectures, which provide critical information that guides the indication and modality of intervention. Finally, close collaboration of the microsurgical and endovascular teams are mandatory for successful treatment. PMID:26948701

  7. Cerebral cavernous malformations: from genes to proteins to disease.

    PubMed

    Cavalcanti, Daniel D; Kalani, M Yashar S; Martirosyan, Nikolay L; Eales, Justin; Spetzler, Robert F; Preul, Mark C

    2012-01-01

    Over the past half century molecular biology has led to great advances in our understanding of angio- and vasculogenesis and in the treatment of malformations resulting from these processes gone awry. Given their sporadic and familial distribution, their developmental and pathological link to capillary telangiectasias, and their observed chromosomal abnormalities, cerebral cavernous malformations (CCMs) are regarded as akin to cancerous growths. Although the exact pathological mechanisms involved in the formation of CCMs are still not well understood, the identification of 3 genetic loci has begun to shed light on key developmental pathways involved in CCM pathogenesis. Cavernous malformations can occur sporadically or in an autosomal dominant fashion. Familial forms of CCMs have been attributed to mutations at 3 different loci implicated in regulating important processes such as proliferation and differentiation of angiogenic precursors and members of the apoptotic machinery. These processes are important for the generation, maintenance, and pruning of every vessel in the body. In this review the authors highlight the latest discoveries pertaining to the molecular genetics of CCMs, highlighting potential new therapeutic targets for the treatment of these lesions. PMID:21962164

  8. Advances in ultrasound imaging for congenital malformations during early gestation

    PubMed Central

    Rayburn, William F.; Jolley, Jennifer A.; Simpson, Lynn L.

    2015-01-01

    With refinement in ultrasound technology, detection of fetal structural abnormalities has improved and there have been detailed reports of the natural history and expected outcomes for many anomalies. The ability to either reassure a high-risk woman with normal intrauterine images or offer comprehensive counseling and offer options in cases of strongly suspected lethal or major malformations has shifted prenatal diagnoses to the earliest possible gestational age. When indicated, scans in early gestation are valuable in accurate gestational dating. Stricter sonographic criteria for early nonviability guard against unnecessary intervention. Most birth defects are without known risk factors, and detection of certain malformations is possible in the late first trimester. The best time for a standard complete fetal and placental scan is 18–20 weeks. In addition, certain soft anatomic markers provide clues to chromosomal aneuploidy risk. Maternal obesity and multifetal pregnancies are now more common and further limit early gestation visibility. Other advanced imaging techniques during early gestation in select cases of suspected malformations include fetal echocardiography and magnetic resonance imaging. PMID:25820190

  9. Mitochondrial Factors and VACTERL Association-Related Congenital Malformations

    PubMed Central

    Siebel, S.; Solomon, B.D.

    2013-01-01

    VACTERL/VATER association is a group of congenital malformations characterized by at least 3 of the following findings: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. To date, no unifying etiology for VACTERL/VATER association has been established, and there is strong evidence for causal heterogeneity. VACTERL/VATER association has many overlapping characteristics with other congenital disorders that involve multiple malformations. In addition to these other conditions, some of which have known molecular causes, certain aspects of VACTERL/VATER association have similarities with the manifestations of disorders caused by mitochondrial dysfunction. Mitochondrial dysfunction can result from a number of distinct causes and can clinically manifest in diverse presentations; accurate diagnosis can be challenging. Case reports of individuals with VACTERL association and confirmed mitochondrial dysfunction allude to the possibility of mitochondrial involvement in the pathogenesis of VACTERL/VATER association. Further, there is biological plausibility involving mitochondrial dysfunction as a possible etiology related to a diverse group of congenital malformations, including those seen in at least a subset of individuals with VACTERL association. PMID:23653577

  10. Guidelines for the treatment of head and neck venous malformations

    PubMed Central

    Zheng, Jia Wei; Mai, Hua Ming; Zhang, Ling; Wang, Yan An; Fan, Xin Dong; Su, Li Xin; Qin, Zhong Ping; Yang, Yao Wu; Jiang, Yin Hua; Zhao, Yi Fang; Suen, James Y

    2013-01-01

    Venous malformation is one of the most common benign vascular lesions, with approximately 40% of cases appearing in the head and neck. They can affect a patient’s appearance and functionality and even cause life-threatening bleeding or respiratory tract obstruction. The current methods of treatment include surgery, laser therapy, sclerotherapy, or a combined. The treatment of small and superficial venous malformations is relatively simple and effective; however, the treatment of deep and extensive lesions involving multiple anatomical sites remains a challenge for the physicians. For complex cases, the outcomes achieved with one single treatment approach are poor; therefore, individualized treatment modalities must be formulated based on the patient’s condition and the techniques available. Comprehensive multidisciplinary treatments have been adapted to achieve the most effective results. In this paper, based on the national and international literature, we formulated the treatment guidelines for head and neck venous malformations to standardize clinical practice. The guideline will be renewed and updated in a timely manner to reflect cutting-edge knowledge and to provide the best treatment modalities for patients. PMID:23724158

  11. Chiari malformation type I: a new MRI classification.

    PubMed

    Amer, T A; el-Shmam, O M

    1997-01-01

    Thirty patients with Chiari I malformation were examined by MRI over 2-year period. All patients underwent MRI scan before and after surgical decompression of the posterior fossa. Images of the craniocervical junction confirmed tonsillar herniation in all cases and allowed the definition of two anatomically distinct types of Chiari malformation. Twenty-one of the 30 patients (70%) had concomitant syringomyelia and were classified as type A, while the remaining 9 patients (30%) had evidence of frank herniation of the cerebellar tonsils below the foramen magnum without evidence of syringomyelia and were labeled type B. Type A patients had a predominant central cord symptomatology; type B patients exhibited signs and symptoms of brain stem or cerebellar compression. The concomitant cord cavitary lesions (syringomyelia) were noncommunicating (isolated syrinxes), which were separated from the fourth ventricle by a syrinx-free segment of normal spinal cord. Holocord hydromyelic cavities were seen in 8 out of 21 patients with syringomyelia, isolated cervical cavities were seen in 4 patients, while combined cervical and thoracic cavities were seen in 9 patients. Kinking of the medullocervical junction and brain stem was seen in 20 out of 30 patients (67%). MRI has proved to be an excellent, noninvasive means of studying of the craniocervical anatomy; it has allowed a classification of Chiari malformation based on objective anatomic criteria with prognostic and clinical relevance. PMID:9223040

  12. 3D visualization of middle ear structures

    NASA Astrophysics Data System (ADS)

    Vogel, Uwe; Schmitt, Thomas

    1998-06-01

    The achievement of volume geometry data from middle ear structures and surrounding components performs a necessary supposition for the finite element simulation of the vibrational and transfer characteristics of the ossicular chain. So far those models base on generalized figures and size data from anatomy textbooks or particular manual and one- or two-dimensional distance measurements of single ossicles, mostly obtained by light microscopy, respectively. Therefore the goal of this study is to create a procedure for complete three-dimensional imaging of real middle ear structures (tympanic membrane, ossicles, ligaments) in vitro or even in vivo. The main problems are their microscopic size with relevant structures from 10 micrometer to 5 mm, representing various tissue properties (bone, soft tissue). Additionally, these structures are surrounded by the temporal bone, the most solid bone of the human body. Generally there exist several established diagnostic tools for medical imaging that could be used for geometry data acquisition, e.g., X-ray computed tomography and magnetic resonance imaging. Basically they image different tissue parameters, either bony structures (ossicles), or soft tissue (tympanic membrane, ligaments). But considering this application those standard techniques allow low spatial resolution only, usually in the 0.5 - 1mm range, at least in one spatial direction. Thus particular structures of the middle ear region could even be missed completely because of their spatial location. In vitro there is a way out by collecting three complete data sets, each distinguished by 90 degree rotation of a cube-shaped temporal bone specimen. That allows high-resolution imaging in three orthogonal planes, which essentially supports the three-dimensional interpolation of the unknown elements, starting from the regularly set elements of the cubic grid with an edge extension given by the original two-dimensional matrix. A different approach represents the

  13. Red ear syndrome: literature review and a pediatric case report.

    PubMed

    Moitri, Misha O; Banglawala, Sarfaraz M; Archibald, Jason

    2015-03-01

    Red ear syndrome (RES) is characterized by recurrent unilateral or bilateral painful attacks of the external ear, accompanied by ear redness, burning, or warmth. Proposed etiologies of this rare condition include dysregulation of sympathetic outflow, upper cervical pathology, glossopharyngeal and trigeminal neuralgia, TMJ dysfunction, thalamic syndrome, and primary headache syndromes. Idiopathic cases also exist in the literature. Pediatric cases are particularly rare and more commonly associated with migraine. Given the various potential etiologies, no single treatment is effective in all cases. This paper summarizes the current understanding and management of RES, and describes a case of idiopathic pediatric RES. PMID:25583087

  14. Middle ear mucosal regeneration with three-dimensionally tissue-engineered autologous middle ear cell sheets in rabbit model.

    PubMed

    Yaguchi, Yuichiro; Murakami, Daisuke; Yamato, Masayuki; Hama, Takanori; Yamamoto, Kazuhisa; Kojima, Hiromi; Moriyama, Hiroshi; Okano, Teruo

    2016-03-01

    The likelihood of recurrent retraction and adhesion of newly formed tympanic membrane is high when middle ear mucosa is extensively lost during cholesteatoma and adhesive otitis media surgery. If rapid postoperative regeneration of the mucosa on the exposed bone surface can be achieved, prevention of recurrent eardrum adhesion and cholesteatoma formation, for which there has been no definitive treatment, can be expected. Suture-less transplantation of tissue-engineered mucosal cell sheets was examined immediately after the operation of otitis media surgery in order to quickly regenerate middle ear mucosa lost during surgery in a rabbit model. Transplantable middle ear mucosal cell sheets with a three-dimensional tissue architecture very similar to native middle ear mucosa were fabricated from middle ear mucosal tissue fragments obtained in an autologous manner from middle ear bulla on temperature-responsive culture surfaces. Immediately after the mucosa was resected from middle ear bone bulla inner cavity, mucosal cell sheets were grafted at the resected site. Both bone hyperplasia and granulation tissue formation were inhibited and early mucosal regeneration was observed in the cell sheet-grafted group, compared with the control group in which only mucosal removal was carried out and the bone surface exposed. This result indicates that tissue engineered mucosal cell sheets would be useful to minimize complications after the surgical operation on otitis media and future clinical application is expected. Copyright © 2013 John Wiley & Sons, Ltd. PMID:23894137

  15. Two Ears Are Not Always Better than One: Mandatory Vowel Fusion Across Spectrally Mismatched Ears in Hearing-Impaired Listeners.

    PubMed

    Reiss, Lina A J; Eggleston, Jessica L; Walker, Emily P; Oh, Yonghee

    2016-08-01

    Hearing loss and auditory prostheses can alter auditory processing by inducing large pitch mismatches and broad pitch fusion between the two ears. Similar to integration of incongruent inputs in other sensory modalities, the mismatched, fused pitches are often averaged across ears for simple stimuli. Here, we measured parallel effects on complex stimulus integration using a new technique based on vowel classification in five bilateral hearing aid users and eight bimodal cochlear implant users. Continua between five pairs of synthetic vowels were created by varying the first formant spectral peak while keeping the second formant constant. Comparison of binaural and monaural vowel classification functions for each vowel pair continuum enabled visualization of the following frequency-dependent integration trends: (1) similar monaural and binaural functions, (2) ear dominance, (3) binaural averaging, and (4) binaural interference. Hearing aid users showed all trends, while bimodal cochlear implant users showed mostly ear dominance or interference. Interaural pitch mismatches, frequency ranges of binaural pitch fusion, and the relative weightings of pitch averaging across ears were also measured using tone and/or electrode stimulation. The presence of both large interaural pitch mismatches and broad pitch fusion was not sufficient to predict vowel integration trends such as binaural averaging or interference. The way that pitch averaging was weighted between ears also appears to be important for determining binaural vowel integration trends. Abnormally broad spectral fusion and the associated phoneme fusion across mismatched ears may underlie binaural speech perception interference observed in hearing aid and cochlear implant users. PMID:27220769

  16. Evolution of Gravity Receptors in the Ear

    NASA Technical Reports Server (NTRS)

    Popper, Arthur N. (Principal Investigator)

    1996-01-01

    The general status of a grant to investigate the origins and evolution of two hair cell types in the ears of a teleost fish, Astronotus ocellatus (the oscar), is presented. First, it was demonstrated that the cells in the rostral end of the saccule of the , Carassius auratus, are type 1-like, while those at the caudal end are type 2 cells. It was demonstrated that the dichotomy of hair cell types found in the utricle of the oscar is also found in the goldfish. Second, the lateral line system of the oscar was examined using gentamicin sulphate, an ototocix drug that destroys type 1- like hair cells but does not appear to damage type 2 hair cells. It was demonstrated that the hair cells found in neuromasts of lateral line canal organs were totally destroyed within 1 day of treatment, while the hair cells in free neuromasts were undamaged after 12 days of treatment. Third, it was demonstrated that the calyx, the specialized nerve ending, is not unique to amniotes and that it is present at least in the cristae of semicirular canals in goldfish. These results have demonstrated that: (1) there are multiple hair cell types in the vestibular endorgans of the ear of fishes, (2) these hair cell types are very similar to those found in the mammalian vestibular endorgans, (3) the nerve calyx is also present in fishes, and (4) multiple hair cell types and the calyx have evolved far earlier in the course of vertebrate evolution than heretofore thought. Understanding the structure of the vestibular endorgans has important implications for being able to understand how these organs respond to gravistatic, acceleration and acoustic input. The vestibular endorgans of fishes may provide an ideal system in which to analyze functional differences in hair cells. Not only are the two hair cell types similar to those found in mammals, they are located in very discrete regions in each endorgan. Thus, it is relatively easy to gain access to cells of one or the other type. The presence of two

  17. EARS : Repositioning data management near data acquisition.

    NASA Astrophysics Data System (ADS)

    Sinquin, Jean-Marc; Sorribas, Jordi; Diviacco, Paolo; Vandenberghe, Thomas; Munoz, Raquel; Garcia, Oscar

    2016-04-01

    The EU FP7 Projects Eurofleets and Eurofleets2 are an European wide alliance of marine research centers that aim to share their research vessels, to improve information sharing on planned, current and completed cruises, on details of ocean-going research vessels and specialized equipment, and to durably improve cost-effectiveness of cruises. Within this context logging of information on how, when and where anything happens on board of the vessel is crucial information for data users in a later stage. This forms a primordial step in the process of data quality control as it could assist in the understanding of anomalies and unexpected trends recorded in the acquired data sets. In this way completeness of the metadata is improved as it is recorded accurately at the origin of the measurement. The collection of this crucial information has been done in very different ways, using different procedures, formats and pieces of software in the context of the European Research Fleet. At the time that the Eurofleets project started, every institution and country had adopted different strategies and approaches, which complicated the task of users that need to log general purpose information and events on-board whenever they access a different platform loosing the opportunity to produce this valuable metadata on-board. Among the many goals the Eurofleets project has, a very important task is the development of an "event log software" called EARS (Eurofleets Automatic Reporting System) that enables scientists and operators to record what happens during a survey. EARS will allow users to fill, in a standardized way, the gap existing at the moment in metadata description that only very seldom links data with its history. Events generated automatically by acquisition instruments will also be handled, enhancing the granularity and precision of the event annotation. The adoption of a common procedure to log survey events and a common terminology to describe them is crucial to provide

  18. Profile of capsaicin-induced mouse ear oedema as neurogenic inflammatory model: comparison with arachidonic acid-induced ear oedema.

    PubMed Central

    Inoue, H.; Nagata, N.; Koshihara, Y.

    1993-01-01

    1. We have investigated the mechanism of capsaicin-induced mouse ear oedema compared with that of arachidonic acid (AA)-induced ear oedema, and evaluated the possible involvement of neuropeptides in the development of capsaicin-induced oedema. 2. Topical application of capsaicin (0.1-1.0 mg per ear) to the ear of mice produced immediate vasodilatation and erythema followed by the development of oedema which was maximal at 30 min after the treatment. This oedema was of shorter duration with less swelling than AA-induced oedema (2.0 mg per ear). 3. Capsaicin-induced ear oedema was unaffected when inhibitors of arachidonate metabolites including platelet activating factor (PAF) were administered before capsaicin (250 micrograms per ear) application, while these agents significantly prevented AA-induced oedema. Dexamethasone, histamine H1 and/or 5-hydroxytryptamine (5-HT) antagonists, and substance P (SP) antagonists were effective in inhibiting both models. Furthermore, a Ca(2+)-channel blocker and the capsaicin inhibitor, ruthenium red, were effective inhibitors of capsaicin oedema but had no effect on AA-induced oedema. 4. Phosphoramidon (50 micrograms kg-1, i.v.), an endopeptidase inhibitor, markedly (P < 0.001) enhanced only capsaicin-induced ear oedema, but bestatin (0.5 mg kg-1, i.v.), an aminopeptidase, failed to enhance oedema formation. 5. Neuropeptides (1-100 pmol per site) such as rat calcitonin gene-related peptide (CGRP), SP, neurokinin A (NKA), and vasoactive intestinal peptide (VIP), which are released from capsaicin-sensitive neurones, caused ear oedema by intradermal injection. Furthermore, a synergistic effect of CGRP (10 fmol per site) and SP (10pmol per site) on oedema formation was observed.(ABSTRACT TRUNCATED AT 250 WORDS) PMID:7508328

  19. Bill malformations in double-crested cormorants with low exposure to organochlorines

    SciTech Connect

    Kuiken, T.; Fox, G.A.; Danesik, K.L.

    1999-12-01

    Eight of 20 newly hatched double-crested cormorants (Phalacrocorax auritus), captured at Dore Lake (Saskatchewan, Canada) and raised in captivity, developed malformed bills when they were 2 to 3 weeks old. Malformation was characterized by abnormal flexure and rotation of the maxilla and mandible, resulting in a crossed bill. By radiography, the premaxillary and dental bones were misshapen. Morphologically similar malformed bills in free-living comorants have been attributed to exposure to polyhalogenated aromatic hydrocarbons. However, the concentrations of total PCBs in the livers of these captive cormorants with malformed bills and in their diet were lower than have been previously associated with such malformations and were considered too low to have been the cause. The bill malformations may have been caused by deficiency of vitamin D{sub 3}, because the cormorants were kept indoors without exposure to ultraviolet light and were fed frozen fish that may have been deficient in this vitamin.

  20. 21 CFR 874.4420 - Ear, nose, and throat manual surgical instrument.

    Code of Federal Regulations, 2012 CFR

    2012-04-01

    ... 21 Food and Drugs 8 2012-04-01 2012-04-01 false Ear, nose, and throat manual surgical instrument... SERVICES (CONTINUED) MEDICAL DEVICES EAR, NOSE, AND THROAT DEVICES Surgical Devices § 874.4420 Ear, nose, and throat manual surgical instrument. (a) Identification. An ear, nose, and throat manual...