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
Objective. To explore the strange beliefs and misconceptions related to the ear and its malformations, and how these have changed from ancient times until today.Methods. Ancient documents, journal articles, and history books were studied to research ancient and current beliefs and misconceptions with regard to the ear and its malformations.Results. The ear has been the centre of various beliefs and
Irene E Gamatsi; Thomas P Nikolopoulos; Dimitra E Lioumi
Summary Malformations of bony inner ear are rare anomalies occurring in approximately 20% of patients with congenital sensorineural hearing loss. Conductive hearing loss is usually associated with abnormalities of the external and middle ear. Recent reports of patients with lateral semicircular canal malformations indicate inner ear malformations to be associated with sensorineural or conductive hearing loss. Differential diagnosis of conductive hearing loss should include otosclerosis, isolated ossicular deformities, inner ear anomalies or a combination of these. In this report, a case is described with right vestibule-lateral semicircular canal dysplasia presenting at our centre with bilateral otosclerosis.
De Stefano, A; Dispenza, F; Aggarwal, N; Russo, A
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
Kidowaki, Naoko; Kamitani, Toru; Nakamura, Takashi; Taki, Masakatsu; Sakaguchi, Hirofumi; Suzuki, Toshihiro; Hisa, Yasuo
Four cases with hereditary combinations of branchial fistulas and middle ear malformations in three generations of one family are reported. We found preauricular fistulas and lateral cervical fistulas combined with different types of middle ear dysplasias. In one case a preauricular fistula running through the middle ear and ending in the dura could be exstirpated. Such rare varieties must be considered, when preauricular fistulas are found together with congenital middle ear deafness. PMID:763058
Pau, H W; Koch, U
The objective of this study was to assess the auditory performance of the neural structures in response to controlled electrical stimulation period. A prospective cohort study focused on the intracochlear electrical stimulation parameters and hearing performance of patients suffering different cochlear malformations who were treated by cochlear implants constituted the study design. The study sample constituted 16 patients, suffering profound prelingual hearing impairment, diagnosed on the basis of radiological criteria as having an inner ear malformation, and who underwent cochlear implantation and were followed for 24 months. Patients with common cavities, characterized by fewer nerve structures involved, less epithelial penetration, and deficient cochlear tonotopy distribution showed have higher thresholds and electrical charges than patients with cochlear hypoplasia, who in turn have higher thresholds than patients with minor malformations (p < 0.05). Furthermore, word perception was severely compromised in patients with a common cavity malformation and was also poor in patients with cochlear hypoplasia, who were unable to discriminate more than 50% of the words and relied on visual cues as a necessary aid to communication. Better results were reached by minor malformed inner ears. To conclude, the number of nerve structures involved, epithelial penetration and deficient cochlear tonotopy are responsible of inner ear functionality. PMID:21990053
Sainz, Manuel; Garcia-Valdecasas, Juan; Fernandez, Elena; Pascual, Maria Teresa; Roda, Olga
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.
Horowitz, Seth S.; Simmons, Andrea Megela; Ketten, Darlene R.
We present a 4-year-old girl with congenital profound sensorineural deafness associated with inner ear malformation (incomplete partition type II, enlarged vestibule, and enlarged vestibular aqueduct). The proposita also had pseudocleft lips, skin defects, auricle abnormalities, and unilateral multicystic dysplastic kidney, leading to the diagnosis of branchio-oculo-facial (BOF) syndrome. Mutation analysis of the TFAP2A gene showed a de novo deletion of 18 and insertion of 6 nucleotides, resulting in deletion of amino acids LPGARR and insertion of RI between amino acids 276 and 281. Altered amino acids are located within the basic DNA binding and dimerization domains of TFAP2A. Previously reported amino acid substitutions in TFAP2A involved only DNA binding domain in four patients with BOF syndrome who were not reported to have profound sensorineural deafness. Our report implies that the localization of mutations in TFAP2A might be responsible with the phenotypic findings in BOF syndrome. PMID:19206157
Tekin, Mustafa; Sirmaci, Asli; Yüksel-Konuk, Berrin; Fitoz, Suat; Sennaro?lu, Levent
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.
National Wildlife Health Center
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…
This activity (on page 2 of the PDF) is a full inquiry investigation into using indicator species to assess the health of an environment. Groups of learners will collect as many frogs as they can from a pond, looking for malformations, which will be documented and further sorted as either symmetrical or asymmetrical. This data will then be graphed to identify a prevalent trend and possible cause of malformations. Relates to linked video, DragonflyTV: Malformed Frogs.
Twin Cities Public Television, Inc.
Arteriovenous malformations are serious high-flow vascular malformations. Four progressive stages have been described: dormancy, expansion, destruction and heart failure. Progression from one stage to another is not systematic but depends on events - physiological or traumatic, sometimes iatrogenic. Pulsed Doppler imaging of venous waveforms and magnetic resonance imaging (MRI) are the most informative examinations for both diagnosis and follow-up of arteriovenous malformations.Arteriography and angio-MRI help guide treatment decisions. Treatment of the malformation must not be envisioned until it reaches a symptomatic stage. It most often combines an endovascular procedures and wide surgical excision. A syndromic form must be considered in cases of systemic angioma. PMID:20206460
Naouri, Michael; Lorette, Gérard; Barbier, Charlotte; Zakine, Gilbert; Herbreteau, Denis
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)
A new class of biometrics based upon ear features is introduced for use in the development of passive identification systems.\\u000a The availability of the proposed biometric is shown both theoretically in terms of the uniqueness and measurability over time\\u000a of the ear, and in practice through the implementation of a computer vision based system. Each subject’s ear is modeled as
Mark Burge; Wilhelm Burger
Anorectal malformations (ARM) are the result of an abnormal development of the terminal part of the digestive tract interesting anus and/or rectum that occur early between the sixth and tenth week of embryonic development. They carry a malformation spectrum of severity depending on the level of disruption of the anorectal canal and of the associated caudal malformations (sacrum and spine). ARM are associated in over half the cases with other malformations that can be integrated in some cases in known syndromes. If surgical treatment to restore anatomy as normal as possible is indispensable, post-operative care is essential for these patients whose defecation mechanisms are altered, to reach if not continence, at least a socially acceptable cleanliness. PMID:23992833
Cretolle, C; Rousseau, V; Lottmann, H; Irtan, S; Lortat-Jacob, S; Alova, I; Michel, J L; Aigrain, Y; Podevin, G; Lehur, P A; Sarnacki, S
Introduction Ear wax only becomes a problem if it causes a hearing impairment or other ear-related symptoms. Ear wax is more likely to accumulate and cause a hearing impairment when normal extrusion is prevented — for example, by the use of hearing aids, or by the use of cotton buds to clean the ears. Ear wax can visually obscure the ear drum, and may need to be removed for diagnostic purposes. Methods and outcomes We conducted a systematic review and aimed to answer the following clinical question: What are the effects of methods to remove ear wax? We searched: Medline, Embase, The Cochrane Library, and other important databases up to June 2007 (Clinical Evidence reviews are updated periodically; please check our website for the most up-to-date version of this review). We included harms alerts from relevant organisations such as the US Food and Drug Administration (FDA) and the UK Medicines and Healthcare products Regulatory Agency (MHRA). Results We found nine systematic reviews, RCTs, or observational studies that met our inclusion criteria. We performed a GRADE evaluation of the quality of evidence for interventions. Conclusions In this systematic review, we present information relating to the effectiveness and safety of the following interventions: ear syringing; manual removal (other than ear syringing); and wax softeners (alone or prior to syringing).
This activity (page 2 of the PDF) is a full inquiry investigation into animal behavior and communication. Groups of learners will fashion a headband with fake ears, similar in shape to those of the animal they are going to observe. Then, they record observations of the animalâs reactions when a learner, wearing the ears in different positions, brings it a snack. Learners develop categories of behavior to organize and evaluate the results. Safety Note: an adult handler must be present if working with a horse or even a large dog. Relates to linked video, DragonflyTV: Horse Ears.
Twin Cities Public Television, Inc.
Anorectal malformations comprise a wide spectrum of diseases, which can affect boys and girls, and involve the distal anus and rectum as well as the urinary and genital tracts. They occur in approximately 1 in 5000 live births. Defects range from the very minor and easily treated with an excellent functional prognosis, to those that are complex, difficult to manage,
Marc A Levitt; Alberto Peña
Spindly cells in the inner ear, called "hair" cells, are critical for both hearing and balance. Now, in a boon for research, neuro-scientists Jeffrey Corwin and Zhenqing Hu at the University of Virginia School of Medicine have finally grown and multiplied these cells in the lab.
Science Update (AAAS;)
Using these websites, you can practice your ear training skills. There are links for intervals, chords, and short melodic segments. First, you should go to this website to practice intervals. Intervals Begin with the first option (simple intervals up). After mastering this, move to simple intervals down. As you become more advanced, continue down the line of interval options. They will become more difficult as you ...
Superficial venous malformations are part of a larger group now called superficial vascular anomalies and previously known as angiomas. These include vascular tumors or infantile hemangioma, low-flow vascular malformations (capillary, lymphatic, and superficial venous malformations) and high-flow vascular malformations (arteriovenous malformations). Some of these lesions are complex. This classification facilitates their multidisciplinary therapeutic management. Embolization is an effective curative treatment for malformations of small and intermediate size. The objective for large or complex malformations is to restore anatomic function and improve cosmetic results. PMID:20304597
Barbier, Charlotte; Martin, Arnaud; Papagiannaki, Chrisanti; Cottier, Jean-Philippe; Lorette, Gérard; Herbreteau, Denis
Anorectal malformations comprise a wide spectrum of diseases, which can affect boys and girls, and involve the distal anus and rectum as well as the urinary and genital tracts. They occur in approximately 1 in 5000 live births. Defects range from the very minor and easily treated with an excellent functional prognosis, to those that are complex, difficult to manage, are often associated with other anomalies, and have a poor functional prognosis. The surgical approach to repairing these defects changed dramatically in 1980 with the introduction of the posterior sagittal approach, which allowed surgeons to view the anatomy of these defects clearly, to repair them under direct vision, and to learn about the complex anatomic arrangement of the junction of rectum and genitourinary tract. Better imaging techniques, and a better knowledge of the anatomy and physiology of the pelvic structures at birth have refined diagnosis and initial management, and the analysis of large series of patients allows better prediction of associated anomalies and functional prognosis. The main concerns for the surgeon in correcting these anomalies are bowel control, urinary control, and sexual function. With early diagnosis, management of associated anomalies and efficient meticulous surgical repair, patients have the best chance for a good functional outcome. Fecal and urinary incontinence can occur even with an excellent anatomic repair, due mainly to associated problems such as a poorly developed sacrum, deficient nerve supply, and spinal cord anomalies. For these patients, an effective bowel management program, including enema and dietary restrictions has been devised to improve their quality of life.
Levitt, Marc A; Pena, Alberto
Objectives. To investigate the best time of examination and section chosen of routine prenatal ultrasound screening for external ear abnormalities and evaluate the feasibility of examining the fetal external ear with ultrasonography. Methods. From July 2010 until August 2011, 42118 pregnant women with single fetus during 16–40 weeks of pregnancy were enrolled in the study. Fetal auricles and external auditory canal in the second trimester of pregnancy were evaluated by routine color Doppler ultrasound screening and systematic screening. Ultrasound images of fetal external ears were obtained on transverse-incline view at cervical vertebra level and mandible level and on parasagittal view and coronal view at external ear level. Results. Five fetuses had anomalous ears including bilateral malformed auricles with malformed external auditory canal, unilateral deformed external ear, and unilateral microtia. The detection rate of both auricles was negatively correlated with gestational age. Of the 5843 fetuses undergoing a routine ultrasound screening, 5797 (99.21%) had bilateral auricles. Of the 4955 fetuses following systematic screening, all fetuses (100%) had bilateral auricles. The best time for fetal auricles observation with ultrasonography is 20–24 weeks of pregnancy. Conclusions. Detection of external ear abnormalities may assist in the diagnosis of chromosomal abnormalities.
Wei, Jun; Ran, Suzhen; Yang, Zhengchun; Lin, Yun; Tang, Jing
The rate of malformed children in Utah of 11.7 per 1,000 liver births, derived from 128,857 birth certificates, ws not high compared with other non-Utah studies. Rates of selected malformations also were not high. The rate of malformed children varied by county of residence. San Juan County reported the highest percentage of mothers receiving late or infrequent prenatal care, the lowest mean level of public education, and the highest rate of malformed children in the state. The rate was not significantly associated with the large population of Indians residing in that county since by controlling for residence, the variation by race was eliminated. The overall rate was positively associated with maternal age rimarily due to an increased frequency of Down's syndrome. The impact of the "maternal age effect" on the state malformation rate, however, was not large. By controlling for maternal age, the slight association between increased rate of malformed children and increasing birth order was eliminated. The rate of malformed children was higher for parents having a low level of education, infrequent prenatal care, or who were not married. There was also a strong negative association of birth weight with the rate of malformation. Analysis of rates of selected malformations suggested that the low birth weight was a sequela to intrauterine growth retardation caused by severe congenital malformation. The validity and etiologic implications of these results await further investigation. PMID:6449752
Seegmiller, R E; Hansen, W N
Arnold-Chiari malformation is a congenital malformation of the skull near the foramen magnum in which the cerebellum and the medulla are caudally displaced. This herniation of the brainstem causes down-beat nystagmus and oscillopsia, the most commonly presenting sign and symptom, respectively. Differential diagnoses for the Arnold-Chiari malformation include, but are not limited to, demyelinating disease, tumor, and vascular disorders. Symptoms will generally worsen with time and may even be brought on during exercise or valsalva maneuvers. A correct diagnosis can lead to timely surgical intervention which can improve the quality of eye movements. Treatment generally involves the surgical decompression of the surrounding spinal tissue. PMID:1565422
Russell, G E; Wick, B; Tang, R A
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.
Orengo, Ida; Robbins, Kerri; Marsch, Amanda
Development of the mammalian inner ear requires coordination of cell proliferation, cell fate determination and morphogenetic movements. While significant progress has been made in identifying developmental signals required for inner ear formation, less is known about how distinct signals are coordinated by their downstream mediators. Members of the Rac family of small GTPases are known regulators of cytoskeletal remodeling and numerous other cellular processes. However, the function of Rac GTPases in otic development is largely unexplored. Here, we show that Rac1 and Rac3 redundantly regulate many aspects of inner ear morphogenesis. While no morphological defects were observed in Rac3-/- mice, Rac1CKO; Rac3-/- double mutants displayed enhanced vestibular and cochlear malformations compared to Rac1CKO single mutants. Moreover, in Rac1CKO; Rac3-/- mutants, we observed compromised E-cadherin-mediated cell adhesion, reduced cell proliferation and increased cell death in the early developing otocyst, leading to a decreased size and malformation of the membranous labyrinth. Finally, cochlear extension was severely disrupted in Rac1CKO; Rac3-/-mutants, accompanied by a loss of epithelial cohesion and formation of ectopic sensory patches underneath the cochlear duct. The compartmentalized expression of otic patterning genes within the Rac1CKO; Rac3-/- mutant otocyst was largely normal, however, indicating that Rac proteins regulate inner ear morphogenesis without affecting cell fate specification. Taken together, our results reveal an essential role for Rac GTPases in coordinating cell adhesion, cell proliferation, cell death and cell movements during otic development.
Grimsley-Myers, Cynthia M.; Sipe, Conor W.; Wu, Doris K.; Lu, Xiaowei
Diffuse cerebral arteriovenous malformation (AVM) is a rare disorder of the brain and defined as diffuse infiltration of brain by complex vascular structures. It is usually associated with hereditary syndromes and presented with hemorrhage or seizure. We report a 20-year-old male patient who presented with drooping of the left eyelid. He had no skin lesion. The ophthalmological examination was within normal limits except periorbital bruit on oscultation. Radiological examination revealed a diffuse AVM comprising multiple arteriovenous shunts, draining bihemispherically through numerous dilated veins but without a typical arteriovenous malformation nidus. No hereditary disorder was detected. No treatment was performed and the patient is still under follow-up. PMID:20963707
Solmaz, Ilker; Secer, Halil Ibrahim; Tehl?, Ozkan; Tem?z, Caglar; Izc?, Yusuf; Gonul, Engin
The malformations of the cerebral cortex represent a major cause of developmental disabilities, severe epilepsy and reproductive disadvantage. The advent of high-resolution MRI techniques has facilitated the in vivo identification of a large group of cortical malformation phenotypes. Several malformation syndromes caused by abnormal cortical development have been recognised and specific causative gene defects have been identified. Periventricular nodular heterotopia
Renzo Guerrini; Carla Marini
Background: We undertook this study to characterize those patients who required reoperations for Chiari malformation and to determine whether modifications in surgical technique at the initial procedure might have obviated the need for repeat surgery. Methods: We reviewed the hospital records, imaging studies, operative reports, and follow-up data of those patients who were undergoing a second operation as part of
David Sacco; R. Michael Scott
With the advent of newer imaging techniques, the radiologist is now able to make very precise and accurate diagnoses of congenital uterine malformations and their complications. Because these anomalies are associated with reproductive dysfunction, they are often discovered during an infertility evaluation. By imaging parallel to the long axis of the uterus, the external contour can be evaluated, obviating laparoscopy for differentiating septate from bicornuate uteri. Obstructed uterovaginal anomalies (e.g., hematometros, hematometrocolpos), an important complication of abnormal müllerian duct development, can occur at any time from the newborn period to adulthood. Determining the site of obstruction is imperative for planning the proper surgical approach. To understand these malformations better, we review the relevant embryology. The most widely accepted classification scheme is discussed in detail, with an emphasis on diagnosis, prognosis, and therapeutic options. PMID:8536487
Woodward, P J; Sohaey, R; Wagner, B J
One hundred sixty-five middle ear procedures were performed with an endoscope, a camera, and a video monitor instead of the microscope. The endoscope offers the following advantages: 1) it visualizes the whole tympanic membrane and the ear canal without having to manipulate the patient's head or the microscope, 2) it extends the operative field in transcanal procedures into structures usually hidden from the microscope (anterior tympanic perforation, posterior retraction pocket, facial recess, and hypotympanum), and 3) it visualizes structures from multiple angles as opposed to the microscope's single axis along the ear canal. Disadvantages of the endoscope include the one-handed surgical technique, a loss of depth perception, limited magnification, and the need for training. The endoscope holds the greatest promise in tympanoplasty and cholesteatoma surgery and should increase the utilization of transcanal over postauricular procedures. PMID:9930539
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
Brucker, Sara Yvonne; Rall, Katharina; Campo, Rudi; Oppelt, Peter; Isaacson, Keith
Cholesteatoma is a hazardous condition because of the erosion and tissue destruction, which result in deafness, and the complications which threaten life. Early diagnosis and treatment provide the best opportunity for eradication of the disease and preservation of hearing. The patient usually complains of intermittent or persistent ear drainage and of diminished hearing acuity. Close examination of the tympanic membrane reveals a perforation, which at times may be quite small, with epithelial extension into the middle ear space. In most instances surgical intervention is necessary for eradication of the disease. ImagesFigure 1.
Thomas, Gary L.
Summary 5,376 consecutive births were examined for the presence of congenital malformations, to find out its incidence and to determine\\u000a the role of environmental factors in the causation of these anomalies.\\u000a \\u000a The incidence was 13.76 per one thousand births. Males dominated among the malformed infants with an incidence of 67.56 per\\u000a cent. The maximum number of malformed children were born to
K. K. Khanna; L. S. N. Prasad
Red Ear Syndrome (RES) is a very rare disorder, with approximately 100 published cases in the medical literature. Red ear (RE) episodes are characterised by unilateral or bilateral attacks of paroxysmal burning sensations and reddening of the external ear. The duration of these episodes ranges from a few seconds to several hours. The attacks occur with a frequency ranging from several a day to a few per year. Episodes can occur spontaneously or be triggered, most frequently by rubbing or touching the ear, heat or cold, chewing, brushing of the hair, neck movements or exertion. Early-onset idiopathic RES seems to be associated with migraine, whereas late-onset idiopathic forms have been reported in association with trigeminal autonomic cephalalgias (TACs). Secondary forms of RES occur with upper cervical spine disorders or temporo-mandibular joint dysfunction. RES is regarded refractory to medical treatments, although some migraine preventative treatments have shown moderate benefit mainly in patients with migraine-related attacks. The pathophysiology of RES is still unclear but several hypotheses involving peripheral or central nervous system mechanisms have been proposed. PMID:24093332
Lambru, Giorgio; Miller, Sarah; Matharu, Manjit S
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…
Red Ear Syndrome (RES) is a very rare disorder, with approximately 100 published cases in the medical literature. Red ear (RE) episodes are characterised by unilateral or bilateral attacks of paroxysmal burning sensations and reddening of the external ear. The duration of these episodes ranges from a few seconds to several hours. The attacks occur with a frequency ranging from several a day to a few per year. Episodes can occur spontaneously or be triggered, most frequently by rubbing or touching the ear, heat or cold, chewing, brushing of the hair, neck movements or exertion. Early-onset idiopathic RES seems to be associated with migraine, whereas late-onset idiopathic forms have been reported in association with trigeminal autonomic cephalalgias (TACs). Secondary forms of RES occur with upper cervical spine disorders or temporo-mandibular joint dysfunction. RES is regarded refractory to medical treatments, although some migraine preventative treatments have shown moderate benefit mainly in patients with migraine-related attacks. The pathophysiology of RES is still unclear but several hypotheses involving peripheral or central nervous system mechanisms have been proposed.
This paper proposes a robust ear identification system which is developed by fusing SIFT features of color segmented slice regions of an ear. It makes use of Gaussian mixture model (GMM) to build ear model with mixture of Gaussian using vector quantization algorithm and K-L divergence is applied to the GMM framework for recording the color similarity in the specified
Dakshina Ranjan Kisku; S. Gupta; P. Gupta; J. K. Sing
A class of biometrics based upon ear features is introduced for use in the development of passive identification systems. The viability of the proposed biometric is shown both theoretically in terms of the uniqueness and measurability over time of the ear, and in practice through the implementation of a computer vision based system. Each subject's ear is modeled as an
Mark Burge; Wilhelm Burger
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.
Yakes, Wayne F. [Interventional Radiology and Interventional Neuroradiology, Radiology Imaging Associates, P.C., Colorado NeurologicalInstitute, Swedish Medical Center, 501 E. Hampden Avenue, Englewood, CO 80110 (United States); Rossi, Plinio [Department of Radiology, Universita Degli Studi Di Roma, 'La Sapienza', 00161 Rome (Italy); Odink, Henk [Department of Radiology, De Wever Hospital, Henri Dunanstrat 5, 6419 PC Heerlen (Netherlands)
Drug delivery to the ear is used to treat conditions of the middle and inner ear such as acute and chronic otitis media, Ménière's disease, sensorineural hearing loss and tinnitus. Drugs used include antibiotics, antifungals, steroids, local anesthetics and neuroprotective agents. A literature review was conducted searching Medline (1966-2012), Embase (1988-2012), the Cochrane Library and Ovid (1966-2012), using search terms 'drug delivery', 'middle ear', 'inner ear' and 'transtympanic'. There are numerous methods of drug delivery to the middle ear, which can be categorized as topical, systemic (intravenous), transtympanic and via the Eustachian tube. Localized treatments to the ear have the advantages of targeted drug delivery allowing higher therapeutic doses and minimizing systemic side effects. The ideal scenario would be a carrier system that could cross the intact tympanic membrane loaded with drugs or biochemical agents for the treatment of middle and inner ear conditions. PMID:23323784
Hoskison, E; Daniel, M; Al-Zahid, S; Shakesheff, K M; Bayston, R; Birchall, J P
Human ear is a new class of relatively stable biometrics that has drawn researchers' attention recently. In this paper, we propose a complete human recognition system using 3D ear biometrics. The system consists of 3D ear detection, 3D ear identification, and 3D ear verification. For ear detection, we propose a new approach which uses a single reference 3D ear shape
Hui Chen; Bir Bhanu
Uterine arteriovenous malformation (AVM) is a little known condition of which, to date, very few cases have been described. It has a very diverse symptomatology, even though in most cases, it is diagnosed during a severe and acute haemorrhagic event. Its treatment can vary from expectant management to hysterectomy; however, current evidence suggests that the embolisation of uterine arteries is the most effective approach, especially if fertility is to be preserved. We present a case report classified as AVM, with additional images that show the appearance of this pathology in a short span of time. This case has a number of peculiarities: unusual persistence of human chorionic gonadotropin hormone (?-HCG), asymptomatic patient, quick establishment of the lesion and its duration with unchanging characteristics and finally its spontaneous resolution without further consequences. This entity shows an aetiopathogenesis, that is, not well established or described. We discuss its physiopathology and aetiopathogenesis. PMID:23396842
Sellers, Francisco; Palacios-Marqués, Ana; Moliner, Belen; Bernabeu, Rafael
Background: The diagnosis and management of Chiari I malformations (CMI) remains controversial, particularly since it is often an incidental finding on cervical MR scans performed for neck pain and/or headaches. Recently, some surgeons “over-operated” on asymptomatic patients with Chiari I malformations, or even on those without the requisite radiographic diagnostic features for Chiari I malformations: unfortunately, only a subset were admonished for indiscriminate surgery. Nevertheless, when this hindbrain malformation is truly symptomatic, contributing to impaired cerebrospinal fluid (CSF) circulation, various valid surgical management strategies may be adopted. Methods: This review focuses on the current literature regarding the clinical presentation, diagnosis, and surgical management of Chiari I malformation. Variations in the surgical technique are also presented and critiqued. Results: The recommended treatment for Chiari I malformations I consists of decompressive suboccipital craniectomy and duroplasty when abnormal cine-flow MRI is observed preoperatively and blockage of CSF flow persists intraoperatively despite bony decompression. Conclusions: Controversy continues regarding the optimal surgical technique to address Chiari malformations I. Proper diagnostic studies and patient selection are needed to optimize patient outcomes, while avoiding unnecessary surgical procedures.
Today, the designation "capillary malformation" is widely used as a modern name for what was formerly called a nevus flammeus or port-wine stain. This new terminology, however, is inaccurate and ambiguous. There are at least nine different skin disorders fulfilling the criteria of a capillary malformation. Examples include nevus anemicus, cutis marmorata telangiectatica congenita, angiokeratoma circumscriptum, and several vascular lesions that, in the author's view, do not represent nevi, such as the nuchal or glabellar salmon patch and the cutaneous changes of Rendu-Osler disease. Hence, I propose that we should use "capillary malformation" as an umbrella term and not as a name for a specific cutaneous entity. PMID:19022106
The purpose of this article is to give an overview of the cerebral and spinal cord pediatric malformations; we particularly describe three of them: Vein of Galen arteriovenous Malformation, Pial Arteriovenous Malformation, and Dural Sinus Malformation. We report the experience of Bicêtre since 1981 to 2003, with 317 VGAM, 302 Pial AVM and 30 DSM. We describe natural history, clinical
A. Ozanne; H. Alvarez; T. Krings; P. Lasjaunias
This game depicts a woman going through her day, faced with various loud sounds. In each situation, she has the choice of how to deal with the loud sound: Ear Plugs, Turn It Down, Move Away, or Do Nothing. You only have 3 of each choice available, symbolized by cards on screen. Your goal is to reach the end of the game with undamaged hearing and one set of earplugs, so you can enjoy an awesome rock concert. After each decision, you find out whether your hearing was damaged and if you made the best choice.
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
Chen, Yan; Wang, Guoyun; Xie, Fubo; Wang, Bo; Tao, Guowei; Kong, Beihua
\\u000a Abstract\\u000a Background Congenital pancreaticobiliary malformations are sometimes associated with acute or chronic pancreatitis and biliary carcinoma. Currently, MRCP is one of the first choices for investigating and diagnosing pancreaticobiliary diseases noninvasively. We compared the accuracy of conventional MRCP and ERCP in making the diagnosis of congenital pancreaticobiliary malformations.Methods In patients with pancreas divisum (n = 17), pancreaticobiliary maljunction (n = 12), choledochocele (n = 2) and annular pancreas
T. Kamisawa; Y. Tu; N. Egawa; K. Tsuruta; A. Okamoto; N. Kamata
A classification for congenital malformations of dermatoglyphs is presented, dividing them into ridge aplasia, ridge hypoplasia, ridge dissociation, ridges-off-the-end, and a combination of the last two. The medical and genetic significance of these are considered in the light both of previous published cases and of new material. Malformations of dermatoglyphs are important as physical signs in paediatric diagnosis. ImagesFIG. 1FIG. 2FIG. 3FIG. 4FIG. 5FIG. 6FIG. 7
David, T. J.
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Summary We retrospectively evaluated 53 consecutive patients with cervicofacial venous malformation who had sclerotherapy. This review included a demographic analysis, MRI reexamination and tabulation of interventional therapeutic strategies. All patients whose MRI studies were included in this review demonstrated characteristic findings: space occupying lesion with hyperintense T2 signal abnormality, patchy contrast enhancement, and no flow signal on the gradient echo images. We concluded that a complete MRI work-up of these patients requires post-contrast scanning and gradient-echo imaging in addition to the standard T1 and T2 weighted spin echo imaging. The majority of patients had sporadic (non-familial) venous anomalies. Sinus pericranii (SP) was identified in six patients (11%) and blue rubber bleb nevus syndrome (BRB-NS) was found in two patients (4%). MRI findings of sinus pericranii are discussed in detail. Although sodium tetradecyl and/or absolute ethanol are the most commonly used sclerosants, a wide variety of therapeutic strategies (depending on the nature of the abnormality) are also needed for these patients.
Konez, O.; Burrows, P. E.; Mulliken, J.B.
Pulmonary arteriovenous malformations (PAVMs) are abnormal vascular structures that most often connect a pulmonary artery to a pulmonary vein, bypassing the normal pulmonary capillary bed and resulting in an intrapulmonary right-to-left shunt. As a consequence, patients with PAVM can have hypoxemia and paradoxical embolization complications, including stroke and brain abscess. PAVMs may be single or multiple, unilateral or bilateral, and simple or complex. Most PAVMs are hereditary and occur in hereditary hemorrhagic telangiectasia, an autosomal dominant vascular disorder, and screening for PAVM is indicated in this subgroup. PAVMs may also be idiopathic, occur as a result of trauma and infection, or be secondary to hepatopulmonary syndrome and bidirectional cavopulmonary shunting. Diagnostic testing involves identifying an intrapulmonary shunt, with the most sensitive test being transthoracic contrast echocardiography. Chest CT scan is useful in characterizing PAVM in patients with positive intrapulmonary shunting. Transcatheter embolotherapy is the treatment of choice for PAVM. Lifelong follow-up is important because recanalization and collateralization may occur after embolization therapy. Surgical resection is rarely necessary and reserved for patients who are not candidates for embolization. Antibiotic prophylaxis for procedures with a risk of bacteremia (eg, dental procedures) is recommended in all patients with PAVM because of the risk of cerebral abscess. PMID:24008954
Cartin-Ceba, Rodrigo; Swanson, Karen L; Krowka, Michael J
Background: Because extra-axial cavernous malformations (CMs) are rare, the common clinical course remains unclear. We report the case of a patient with progressive CM originating from the cerebellar tentorium. Case Description: A 64-year-old woman was admitted to our hospital with the complaint of diplopia. Magnetic resonance (MR) imaging revealed a lesion attached to the left cerebellar tentorium, close to the cerebral peduncle. This well-demarcated lesion rapidly enlarged for 3 months and eroded into the midbrain. Cerebral angiography showed a branch of the middle meningeal artery supplying the lesion and pooling of the contrast medium in the venous phase. A dark reddish and mulberry-like mass of the tentorium was observed intraoperatively, allowing the diagnosis of a tentorial CM. The feeding artery was identified in the tentorium and was coagulated. Postoperative MR imaging showed remarkable mass reduction and central necrosis of the lesion. However, the lesion recurred in 3 months; consequently, gamma knife radiosurgery was performed. After an additional 2 months, the lesion shrank in response to the radiosurgery. Conclusions: We report an extremely rare case of tentorial CM which showed rapid growth in a short period. Coagulation of the feeding artery was not sufficient to control the lesion. Gamma knife radiosurgery may prove highly effective for recurrent lesions.
Furuta, Takuya; Nakada, Mitsutoshi; Watanabe, Takuya; Hayashi, Yutaka; Hamada, Jun-Ichiro
Pediatric dural arteriovenous malformations (dAVMs) are rare lesions that have a high mortality rate and require complex management. The authors report 3 cases of pediatric dAVMs that presented with macrocrania and extracranial venous distension. Dural sinus thrombosis developed in 2 of the cases prior to any intervention, which is an unusual occurrence for this particular disease. All 3 cases were treated using staged endovascular embolization with a favorable outcome in 1 case and a poor outcome in the other 2 cases. Complications developed in all cases and included dural sinus thrombosis, parenchymal hemorrhage, intracranial venous hypertension, and seizures. The strategies and challenges used in managing these patients will be presented and discussed, along with a review of the literature. While outcomes remain poor, the authors conclude that prompt treatment with endovascular embolization provides the best results for children with these lesions. A well-established venous collateral circulation draining directly to the internal jugular veins may further improve the rate of favorable outcome after embolization. PMID:24867128
Appaduray, Shaun P; King, James A J; Wray, Alison; Lo, Patrick; Maixner, Wirginia
The malformations of the cerebral cortex represent a major cause of developmental disabilities, severe epilepsy and reproductive disadvantage. The advent of high-resolution MRI techniques has facilitated the in vivo identification of a large group of cortical malformation phenotypes. Several malformation syndromes caused by abnormal cortical development have been recognised and specific causative gene defects have been identified. Periventricular nodular heterotopia (PNH) is a malformation of neuronal migration in which a subset of neurons fails to migrate into the developing cerebral cortex. X-linked PNH is mainly seen in females and is often associated with focal epilepsy. FLNA mutations have been reported in all familial cases and in about 25% of sporadic patients. A rare recessive form of PNH due ARGEF2 gene mutations has also been reported in children with microcephaly, severe delay and early seizures. Lissencephaly-pachygyria and subcortical band heterotopia (SBH) are disorders of neuronal migration and 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. Most children have severe developmental delay and infantile spasms, but milder phenotypes are on record, including posterior SBH owing to mosaic mutations of LIS1. DCX mutations usually cause anteriorly predominant lissencephaly in males and SBH in female patients. Mutations of DCX have also been found in male patients with anterior SBH and in female relatives with normal brain magnetic resonance imaging. Autosomal recessive lissencephaly with cerebellar hypoplasia, accompanied by severe delay, hypotonia, and seizures, has been associated with mutations of the reelin (RELN) gene. X-linked lissencephaly with corpus callosum agenesis and ambiguous genitalia in genotypic males is associated with mutations of the ARX gene. Affected boys have severe delay and seizures with suppression-burst EEG. Early death is frequent. Carrier female patients can have isolated corpus callosum agenesis. Among several syndromes featuring polymicrogyria, bilateral perisylvian polymicrogyria shows genetic heterogeneity, including linkage to chromosome Xq28 in some pedigrees, autosomal dominant or recessive inheritance in others, and an association with chromosome 22q11.2 deletion in some patients. About 65% of patients have severe epilepsy. Recessive bilateral frontoparietal polymicrogyria has been associated with mutations of the GPR56 gene. Epilepsy is often present in patients with cortical malformations and tends to be severe, although its incidence and type vary in different malformations. It is estimated that up to 40% of children with drug-resistant epilepsy have a cortical malformation. However, the physiopathological mechanisms relating cortical malformations to epilepsy remain elusive. PMID:16724181
Guerrini, Renzo; Marini, Carla
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.
Wilkie, Andrew OM
Some arteriovenous malformations fed by the striate arteries and lying within the claustrolenticular region can be excised by using microsurgical techniques. Three patients operated on with successful removal of the malformation are discussed here. PMID:7444736
Viale, G L; Turtas, S; Pau, A
Background Congenital pancreaticobiliary malformations are sometimes associated with acute or chronic pancreatitis and biliary carcinoma.\\u000a Currently, magnetic resonance cholangiopancreatography (MRCP) is one of the first choices for investigating and diagnosing\\u000a pancreaticobiliary diseases noninvasively. We compared the accuracy of conventional MRCP and endoscopic retrograde cholangiopancreatography\\u000a (ERCP) in making the diagnosis of congenital pancreaticobiliary malformations.\\u000a \\u000a \\u000a \\u000a Methods In patients with pancreas divisum (n = 17),
T. Kamisawa; Y. Tu; N. Egawa; K. Tsuruta; A. Okamoto; N. Kamata
Capillary malformations (CM) are defects of the dermal capillary bed. These slow-flow malformations can affect any part of the body and are always lateralized, despite Unna's naevus. Present at birth, they grow proportionally with the child. In rare instance, they can be part of a more complex syndrome such as Sturge-Weber syndrome. Ectatic CMs of telangiectatic types can be cutaneous, isolated, multiples, diffuse or generalized. In rare instance, they can be associated with epidermal modifications. They can also be part of a syndrome such as Fabry disease, Osler-Weber-Rendu disorder or Cutis marmorata telangiectatica congenita (CMTC). This chapter details the various clinical aspects of CMs. PMID:17007980
Bataille, A-C; Boon, L-M
Several factors have led to the current epidemic of surgery for glue ear in children, including the widespread introduction of audiometry; greater recognition of the presence of fluid in the middle ear by general practitioners; the availability of more otolaryngologists; and technical advances such as the availability of antibiotics to treat postoperative infections and of flanged tympanostomy tubes (grommets). The need of surgeons to fill the vacuum caused by the decline in the number of adenotonsillectomies, and the fact that a diagnosis of glue ear legitimises the continued use of these operations, may also have contributed to the increase. Finally, glue ear may provide parents with a medical explanation of their children's poor educational performance, as the term dyslexia did in the past. The high social and public costs of this operation demand a reappraisal of its increasing use.
The necropsy reports of 294 cases of anencephaly and 50 cases of iniencephaly have been examined, and a tubulated list of associated malformations produced. Cases were divided by sex and the presence or absence of spina bifida. Forty-one per cent of the series had other malformations, and other malformations were more common in those cases with spina bifida than in
T J David; A Nixon
Background Abernethy malformation is a very rare congenital vascular malformation defined by diversion of portal blood away from liver. It is commonly associated with multiple congenital anomalies. We present a case of Abernethy malformation, without associated congenital anomalies from India. Case presentation A 5-year-old female child presented with short history of jaundice. A provisional diagnosis of acute viral hepatitis was made in view of clinical presentation and local endemicity of viral hepatitis A. Persistence of jaundice on follow up after 4?weeks led to detailed investigations. Ultrasound and doppler study of abdomen revealed drainage of portal vein into inferior vena cava. CT angiography was performed which confirmed the diagnosis of Type 1 b Abernethy malformation without associated major anomalies. We discuss the common clinical presentations, associated anomalies, diagnostic workup and treatment options of this disorder. Conclusion The treatment of the patients with congenital porto-systemic shunts depends on the site of the shunt, associated congenital anomalies and the extent of liver damage but the prognosis depends on the complications irrespective of anatomical type. However, the extent of associated abnormalities should not deter paediatricians to refer patients for treatment. Whenever possible closure of the shunt should be advised for cure or to prevent complications. Only symptomatic type I patients with absence of possibility to close the shunt may require liver transplant. Long-term follow-up is indicated for all patients.
BACKGROUND In pregnant women with epilepsy the use of antiepileptic drugs may increase the risk of harming the foetus. For the treating neurologist it may be challenging to find a balance between optimal seizure control and the lowest possible drug dosage. The aim of this study was to assess the prevalence and type of congenital malformations in children exposed to antiepileptic drugs during pregnancy.MATERIAL AND METHOD In Norway we have prospectively followed 813 pregnancies in women with epilepsy as part of an international cohort study. The women had three check-ups during the pregnancy, and the children were followed up twice during their first year of life.RESULTS We found a total of 34 congenital malformations in the children, of which 12 were heart defects, yielding a malformation rate of 4.5 %. Six of the malformations (18 %) were detected prenatally, 20 (59 %) were reported immediately after birth, and eight (24 %) were discovered during the child's first year of life.INTERPRETATION Our study shows that 95.5 %.of the women included who used antiepileptic drugs during pregnancy gave birth to a healthy child. This Norwegian cohort is too small to evaluate the teratogenic risk associated with the individual drugs. PMID:24989202
Nakken, Karl O; Lillestølen, Kari Mette; Brodtkorb, Eylert; Svendsen, Torleiv; Haggag, Kathrine Johannessen; Taubøll, Erik
Occult vascular malformations are frequently associated with intractable seizures and are a common cause of lesional epilepsy. MR imaging can identify and characterize these lesions with accuracy. The presurgical evaluation must be tailored to the individual patient's presentation and circumstances. Surgical results following lesionectomy plus corticectomy may be slightly superior to lesionectomy alone, but the overall prognosis is excellent. PMID:10419577
Cosgrove, G R
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.
Miller, Marilyn T; Stromland, Kerstin; Ventura, Liana; Johansson, Maria; Bandim, Jose M; Gillberg, Christopher
Vascular anomalies are a heterogeneous group of congenital blood vessel disorders more typically referred to as birthmarks. Subcategorized into vascular tumors and malformations, each anomaly is characterized by specific morphology, pathophysiology, clinical behavior, and management approach. Hemangiomas are the most common vascular tumors. Lymphatic, capillary, venous, and arteriovenous malformations make up the majority of vascular malformations. Arteriovenous malformation of the head and neck is a rare vascular anomaly but when present is persistent and progressive in nature and can represent a lethal benign disease. Here we present a case report of a 25-year-old male patient with arteriovenous malformation involving the base of tongue. PMID:24660070
Manjunath, S M; Shetty, Sujan; Moon, Ninad J; Sharma, Bhushan; Metta, Kiran Kumar; Gupta, Nitin; Goyal, Sandeep; Singh, Simranjit
Malformations are common causes of pediatric morbidity and mortality, and genetic factors are a significant component of their etiology. Autosomal deletions, in almost all cases, cause a nonspecific embryopathy that presents after birth as growth failure, mental retardation, and multiple malformations. We have constructed a chromosome map of autosomal deletions associated with 47 different congenital malformations, using detailed clinical and cytogenetic information on 1,753 patients with nonmosaic single contiguous autosomal deletions. The 1,753 deletions involved 258 (89%) of 289 possible autosomal bands (by the use of ISCN 400-band nomenclature), giving a total of 4,190 deleted autosomal bands for analysis. We compared the band distributions of deletions associated with common major malformations with the distribution of all 1,753 deletions. We noted 283 positive associations between deleted bands and specific malformations, of which 199 were significant (P<.05, P>.001) and 84 were highly significant (P<.001). These "malformation-associated bands" (MABs) were distributed among 137 malformation-associated chromosome regions (MACRs). An average of 6 MABs in 2.9 MACRs were detected per malformation studied; 18 (6%) of 283 MABs contain a locus known to be associated with the particular malformation. A further 18 (6%) of 283 are in seven recognized specific malformation-associated aneuploid regions. Therefore, 36 (26%) of 137 of the MACRs contain an MAB coinciding with a previously recognized locus or malformation-associated aneuploid region. This map should facilitate identification of genes important in human development.
Brewer, C; Holloway, S; Zawalnyski, P; Schinzel, A; FitzPatrick, D
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
Azizi, M H
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
Mannoor, Manu S; Jiang, Ziwen; James, Teena; Kong, Yong Lin; Malatesta, Karen A; Soboyejo, Winston O; Verma, Naveen; Gracias, David H; McAlpine, Michael C
Stress of some kind is encountered everyday and release of stress hormones is essential for adaptation to change. Stress can be physical (pain, noise exposure, etc.), psychological (apprehension to impending events, acoustic conditioning, etc.) or due to homeostatic disturbance (hunger, blood pressure, inner ear pressure, etc.). Persistent elevated levels of stress hormones can lead to disease states. The aim of the present review is to bring together data describing morphological or functional evidence for hormones of stress within the inner ear. The present review describes possible multiple interactions between the sympathetic and the complex feed-back neuroendocrine systems which interact with the immune system and so could contribute to various inner ear dysfunctions such as tinnitus, vertigo, hearing losses. Since there is a rapidly expanding list of genes specifically expressed within the inner ear this clearly allows for possible genomic and non-genomic local action of steroid hormones. Since stress can be encountered at any time throughout the life-time, the effects might be manifested starting from in-utero. These are avenues of research which remain relatively unexplored which merit further consideration. Progress in this domain could lead towards integration of stress concept into the overall clinical management of various inner ear pathologies. PMID:14505685
Horner, K C
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.
Mannoor, Manu S.; Jiang, Ziwen; James, Teena; Kong, Yong Lin; Malatesta, Karen A.; Soboyejo, Winston O.; Verma, Naveen; Gracias, David H.; McAlpine, Michael C.
When electrical resonances were observed in acoustic sensory cells of lower vertebrates, the hearing research community was presented with the exciting possibility that tuning in the ears of those animals might be explained directly in terms of familiar molecular devices. It is reported here that in the frog sacculus, where electrical resonances have been observed in isolated hair cells, the effects of those resonances are completely obscured in the tuning properties of the sacculus in the intact ear. This observation has important implications not only for students of the ear, but for reductionist biologists in general. All of the dynamic properties of a system of connected, bidirectional processes are consequences of all of those processes at once; in such a system, the properties of an experimentally isolated subsystem may be totally obscured in the operation of the system as a whole.
Lewis, E R
Phocomelia (flipper-like limbs) has long been recognized as a rare malformation. Numerous cases of phocomelia and other congenital malformations have recently been reported in the United Kingdom, Australia, Europe and Canada in which the common factor appears to have been the administration of the hypnotic compound thalidomide during early pregnancy. Two additional cases of infants born with phocomelia, amelia and alimentary abnormalities are presented. In both of these cases the administration of thalidomide was initiated early during pregnancy (five to eight weeks after the last normal menstrual period) and maintained for several weeks. Thalidomide (alpha-phthalimido glutarimide) is related chemically to other glutarimides currently in clinical use. The possibility that these compounds and/or their metabolites may induce teratogenic effects warrants consideration. Emphasis is added to the view that caution should be exercised when prescribing new drugs. ImagesFig. 1Fig. 2
Ing, George M.; Olman, C. L.; Oyd, John R.
Many inner ear disorders cannot be adequately treated by systemic drug delivery. A blood-cochlear barrier exists, similar physiologically to the blood-brain barrier, which limits the concentration and size of molecules able to leave the circulation and gain access to the cells of the inner ear. However, research in novel therapeutics and delivery systems has led to significant progress in the development of local methods of drug delivery to the inner ear. Intratympanic approaches, which deliver therapeutics to the middle ear, rely on permeation through tissue for access to the structures of the inner ear, whereas intracochlear methods are able to directly insert drugs into the inner ear. Innovative drug delivery systems to treat various inner ear ailments such as ototoxicity, sudden sensorineural hearing loss, autoimmune inner ear disease, and for preserving neurons and regenerating sensory cells are being explored.
Swan, Erin E. Leary; Mescher, Mark J.; Sewell, William F.; Tao, Sarah L.; Borenstein, Jeffrey T.
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.
... FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN SERVICES (CONTINUED) MEDICAL DEVICES GENERAL AND PLASTIC SURGERY DEVICES Prosthetic Devices Â§ 878.3590 Ear prosthesis. (a) Identification. An ear prosthesis is a...
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-2? (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.
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.
The frog inner ear contains three regions that are sensitive to airborne sound and which are functionally distinct. (1) The responses of nerve fibres innervating the low-frequency, rostral part of the amphibian papilla (AP) are complex. Electrical tuning of hair cells presumably contributes to the frequency selectivity of these responses. (2) The caudal part of the AP covers the mid-frequency portion of the frog's auditory range. It shares the ability to generate both evoked and spontaneous otoacoustic emissions with the mammalian cochlea and other vertebrate ears. (3) The basilar papilla functions mainly as a single auditory filter. Its simple anatomy and function provide a model system for testing hypotheses concerning emission generation. Group delays of stimulus frequency otoacoustic emissions (SFOAEs) from the basilar papilla are accounted for by assuming that they result from forward and reverse transmission through the middle ear, a mechanical delay due to tectorial membrane filtering and a rapid forward and reverse propagation through the inner ear fluids, with negligible delay.
van Dijk, Pim; Mason, Matthew J.; Schoffelen, Richard L. M.; Narins, Peter M.; Meenderink, Sebastiaan W. F.
... speak. Sound, which is made up of invisible waves of energy, causes these vibrations. Every time you hear a sound, the various structures of the ear have to work together to make sure ... Hearing begins when sound waves that travel through the air reach the outer ...
Intrauterine growth retardation is caused by factors that prevent adequate fetal nourishment or by factors that intrinsically affect the fetus. Limited available space due to a congenitally malformed uterus may prevent normal intrauterine development. Two cases are presented here. A review of the available literature confirms the tendency of women with congenital uterine malformations to have smaller offspring. Intrauterine growth retardation should be added to the more commonly known complications associated with a congenitally malformed uterus. ImagesFigure 1Figure 2
Poma, Pedro A.
. Using the Swedish Cardiology Registry and the Registry of Congenital Malformations, and after excluding infants with a known\\u000a chromosomal anomaly, data on 397 infants (15%) born during the period 1981–1990 with a major cardiac defect and at least one\\u000a noncardiac malformation were analyzed. No clear-cut association appeared between specific heart defects and major groups of\\u000a noncardiac malformations except for
Myelomeningocele (MMC) is a malformation characterized by the failure of closure of the neural tube, usually (but not only)\\u000a at the lumbo-sacral level. Synonyms are spina bifida aperta, open spinal dysra — phism, and Chiari II malformation complex.\\u000a MMC is typically associated with a metamerically consistent paraplegia, a posterior fossa deformity known as the Chiari II\\u000a malformation, hydrocephalus, and a
Charles Raybaud; Elka Miller
Ear is a new class of relatively stable biometric that is invariant from childhood to early old age (8 to 70). It is not affected with facial expressions, cosmetics and eye glasses. In this paper, we introduce a two-step ICP (Iterative Closest Point) algorithm for matching 3D ears. In the first step, the helix of the ear in 3D images
Hui Chen; Bir Bhanu
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)
Kinney, William C.; Hughes, Gordon B.
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
Bahi-Buisson, Nadia; Guerrini, Renzo
AIMS—Orbital arteriovenous malformations (OAVM) are rare, mostly described with high flow characteristics. Two cases are reported with an OAVM of distinct haemodynamic abnormality. The clinical, angiographic features, and the management considerations are discussed.?METHODS—Case review of two patients with dural AVM (DAVM) who presented to referral neuro-ophthalmology and endovascular services because of clinical symptoms and signs consistent with a cavernous sinus dural AVM.?RESULTS—In each patient, superselective angiography revealed a small slow flow intraorbital shunt supplied by the ophthalmic artery. The transarterial and transvenous endovascular approaches to treat the malformation were partially successful. Although, the abnormal flow was reduced, complete closure of the DAVM could not be accomplished without significant risk of iatrogenic injury. Neither patient's vision improved after intervention.?CONCLUSION—A DAVM in the orbit can cause similar clinical symptoms and signs to those associated with a cavernous sinus DAVM. Even with high resolution magnetic resonance imaging, only superselective angiography can identify this small intraorbital slow flow shunt. The location in the orbital apex and the small size precludes a surgical option for treatment. The transarterial and transvenous embolisation options are limited.??
Huna-Baron, R.; Setton, A.; Kupersmith, M.; Berenstein, A.
Summary \\u000a ?Background. A rare case of a left temporal arteriovenous malformation (AVM) with bleeding 10 days after removal of another hemorrhagic\\u000a AVM in the frontal lobe is reported.\\u000a \\u000a \\u000a \\u000a ?Method. A 47-year-old man had an attack of headache and vomiting and was admitted to our hospital. On admission, a CT scan showed\\u000a subcortical hemorrhage in the left frontal lobe. Left carotid
S. Utsuki; A. Kurata; Y. Miyasaka; M. Takano; H. Ootaka; K. Fujii
We report here a case of a 44-year-old female with a pulmonary varix. The patient was asymptomatic; a routine chest X-ray incidentally revealed a serpiginous mass in the left hilar region. Computed tomography revealed a serpiginous, dilated vascular structure in the left upper lobe that continued into the lower lobe and was suggestive of an arteriovenous malformation. Pulmonary angiography revealed no arterial abnormality; however, the filling of an abnormally dilated pulmonary vein was observed. Angiography is considered to be the most useful method for the confirmatory diagnosis of pulmonary varices. PMID:18164399
Kumazoe, Hiroyuki; Komori, Masashi; Ochiai, Reiji; Egashira, Ryoko; Nakazono, Takahiko; Kudo, Sho
Pulmonary arteriovenous malformations are rare lesions with significant clinical complications. These lesions are commonly seen in patients with hereditary hemorrhagic telangiectasia (formerly Osler-Weber-Rendu syndrome). Interventional radiologists are a key part of the treatment team in this complex disease, and a thorough understanding of the disease process is critical to providing good patient care. In this article, the authors review the disease course and its association with hereditary hemorrhagic telangiectasia, discusses the clinical evaluation and treatment of these complex patients, and outlines complications and follow-up.
Meek, Mary E.; Meek, James C.; Beheshti, Michael V.
Investigation of the causes of vestibular symptoms in patients with chronic otitis media (COM) faces frustration, mainly because the bithermal caloric test using tap water is generally contraindicated in perforated ears. This study utilized audiometry, ocular vestibular-evoked myogenic potential (oVEMP) test, and cervical VEMP (cVEMP) test to evaluate inner ear deficits after COM. A total of 85 COM patients (117 ears) underwent otoscopy, image study, audiometry, oVEMP test, and cVEMP test. Mean bone-conducted (BC) hearing threshold ?25 dB was observed in 74 ears, 26-40 dB in 30 ears, and >40 dB in 13 ears. Restated, abnormal BC hearing threshold was identified in 43 ears (37 %). Percentages of abnormal cVEMP test, oVEMP test, and BC hearing threshold in 117 COM ears were 65, 62, and 37 %, respectively, exhibiting a significantly declining sequence in inner ear function. Furthermore, cVEMP/oVEMP test results were significantly correlated with BC hearing threshold, whereas no correlation existed between the cVEMP and oVEMP test results. In conclusion, the sequence of inner ear deficits after COM runs from the saccule/utricle to the cochlea and semicircular canals. Restated, in addition to BC hearing test, the cVEMP/oVEMP test may serve as a supplementary tool for early detection of inner ear involvement in COM patients. PMID:24061573
Chang, Chun-Wei; Cheng, Po-Wen; Young, Yi-Ho
Imaging of the temporal bone is under continous developement. In the recent decades the technical advances of magnetic resonance imaging and computed tomography have contributed to improved imaging quality in assessment of the temporal bone. Dedicated imaging protocols have been developed and are routinely employed in most institutions. However, imaging interpretation remains challenging, since the temporal bone is an anatomically highly complex region and most diseases of the inner ear occur with low incidence, so that even radiologists experienced in the field may be confronted with such entities for the first time. The current review gives an overview about symptoms and imaging appearance of malformations and acquired lesion of the inner ear. PMID:17926042
Krombach, Gabriele A; Honnef, Dagmar; Westhofen, Martin; Di Martino, Ercole; Günther, Rolf W
This article addresses the scope, etiology, important associations and imaging features of congenital bronchopulmonary foregut malformations. Etiologic concepts, including airway obstruction and vascular anomalies, are highlighted. Technical imaging advances, especially CT and MR, have greatly enhanced our diagnostic abilities in evaluating these lesions; however, thorough and careful assessment of all aspects of the malformation is still necessary. Several specific lesions
Malformed messages in different protocols pose a serious threat because they are used to remotely launch malicious activity. Furthermore, they are capable of crashing servers and end points, sometimes with a single message. Recently, it was shown that a malformed SMS can crash a mobile phone or gain unfettered access to it. In spite of this, little research has been
M Zubair Rafique; Muhammad Khurram Khan; Khaled Alghathbar; Muddassar Farooq
Renal tract malformations are congenital anomalies of the kidneys and\\/or lower urinary tract. One challenging feature of these conditions is that they can present not only prenatally but also in childhood or adulthood. The most severe types of malformations, such as bilateral renal agenesis or dysplasia, although rare, lead to renal failure. With advances in dialysis and transplantation for young
Larissa Kerecuk; Michiel F Schreuder; Adrian S Woolf
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
Salman, Michael S; Sharpe, James A; Lillakas, Linda; Dennis, Maureen; Steinbach, Martin J
Created in June, 1997 and funded by the US Geological Survey and Environmental Protection Agency, this site is a response to the discovery of numerous deformed amphibians (mostly frogs) in areas as widespread as Minnesota, California, and Florida. Malformations include extra or missing limbs, missing eyes, and split limbs. The site is intended to serve as a central repository for data on the type and relative frequency of such malformations throughout the US. Researchers hope to use the site to help discover the cause(s) of these deformities. The site contains a map of where malformations have been reported, background on the occurrence and possible causes of defects, numerous images of malformed amphibians, a searchable bibliography, instructions on how to report the discovery of a malformed amphibian, and links to eight related web sites. NARCAM's site also contains a toll-free number for citizen reports.
Center., Northern P.
...tonsil guillotine; tonsil screw; tonsil snare; tonsil suction tube; tonsil suturing...rongeur; nasal saw; nasal scissors; nasal snare; sinus irrigator; sinus trephine; ear...excavator; ear rasp; ear scissor, ear snare; ear spoon; ear suction tube;...
...tonsil guillotine; tonsil screw; tonsil snare; tonsil suction tube; tonsil suturing...rongeur; nasal saw; nasal scissors; nasal snare; sinus irrigator; sinus trephine; ear...excavator; ear rasp; ear scissor, ear snare; ear spoon; ear suction tube;...
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.
Yao, W.; Ma, J.; Huang, X.
Congenital malformations frequently arise sporadically, making it difficult to determine whether or not they are genetic in aetiology, let alone which gene(s) may be involved. Nevertheless, rapid progress has been made over recent years in the localisation and identification of gene mutations in specific malformations. This review draws from Mendelian inheritance in man (Johns Hopkins University Press, 11th ed, 1994) and the online version (OMIM) to catalogue 139 loci (including 65 specifically identified genes) implicated in congenital malformations. Some of the most interesting recent developments are discussed.
Wilkie, A O; Amberger, J S; McKusick, V A
The inner ear is a structurally complex vertebrate organ built to encode sound, motion, and orientation in space. Given its complexity, it is not surprising that inner ear dysfunction is a relatively common consequence of human genetic mutation. Studies in model organisms suggest that many genes currently known to be associated with human hearing impairment are active during embryogenesis. Hence, the study of inner ear development provides a rich context for understanding the functions of genes implicated in hearing loss. This chapter focuses on molecular mechanisms of inner ear development derived from studies of model organisms.
Wu, Doris K.; Kelley, Matthew W.
Repeated trauma to the ear very often results in "cauliflower ear." Many methods have been suggested to prevent an injured ear from demonstrating a cauliflowerlike deformity. The principles of treatment are evacuation of the hematoma, control of the reaccumulation of fluid, and maintenance of the cartilage contour. The authors studied the effect of ionizing radiation on deformed rabbit ears induced by repeated trauma. Twenty ears (10 rabbits) were used in the experiment. The animals were divided into four groups (control, preradiation, low dose, and high dose). Hematoma was produced by pounding the lateral side of the auricle 10 times with a 50-g weight at a height of 15 cm. The thickness of the injured and uninjured sites was measured, and histological analysis was performed for each group. The thickness of the ears of the irradiated groups was significantly less than the control group. The authors think that radiation treatment of repeatedly injured ears could prevent ear deformity, and could possibly be an adjunctive form of management of cauliflower ear in addition to hematoma evacuation and compression therapy. PMID:11216608
Hwang, K; Kim, C W; Lee, S I; Park, I S; Kim, W C; Loh, J J
The literature abounds with reports of malformation syndromes in which human external ears are variously described as dysplastic, abnormal, large/small, low set, typical, or in some way unusual. Rarely is the ear well illustrated or described in meaningful detail. With few exceptions, such as Down syndrome, there is no real understanding of the degree to which ear morphology is affected in a specific syndrome. This paper describes a retrospective attempt to apply the recently published Morphological Definitions of the ear to compare a control sample of convenience with a group of patients with Cornelia de Lange syndrome (CdLS) (all six papers in this issue are available online, open access at http://www3.interscience.wiley.com/journal/121641055/issue). Although this study has a number of limitations, it demonstrates that the method can be successfully applied and is capable of producing data that can be subjected to statistical analysis. The ears of the patients with CdLS were significantly different from the controls over a number of descriptors, the most significant of which included more frequent apparent posterior rotation, a shorter more serpiginous antihelical stem and sharper antihelical to inferior crus angle, a shorter crus helix, a more V-shaped incisura, and a smaller lobe. PMID:19764039
Hunter, Alasdair G W; Collins, Julianne S; Deardorff, Matthew A; Krantz, Ian D
Capillary malformation-arteriovenous malformation syndrome is an autosomal dominant disorder caused by mutations in the RASA1 gene and characterized by multiple small, round to oval capillary malformations with or without arteriovenous malformations. Ateriovenous malformations occur in up to one-third of patients and may involve the brain and spine. Although making the diagnosis is straightforward in some patients, there are other patients for whom diagnostic criteria may be helpful in their evaluation. Here we review the literature regarding capillary malformation-arteriovenous malformation syndrome, propose diagnostic criteria, and discuss the care of patients with this condition. PMID:23662773
Orme, Charisse M; Boyden, Lynn M; Choate, Keith A; Antaya, Richard J; King, Brett A
Full blown cases of cleidocranial dysplasia (CCD) have been reported earlier but a case with a rarity of 60 teeth associated with bony malformations, is seldom observed Because of the oral findings this condition has been diagnosed at an early age, thus helping to achieve a better oral harmony. This article reports an atypical case with 16 supernumerary teeth associated with bony malformations. PMID:22524086
Kamatham, R; Sharada, J; Mohapatra, A; Nuvvula, S
We report a very rare case of a high flow arteriovenous malformation (AVM) of the upper limb that caused high output cardiac failure at birth. There was early transfer of the baby to the care of a multidisciplinary team. After radiological intervention, the arm distal to the malformation became ischaemic and an urgent amputation through the upper-humerus followed. Methods of treatment are discussed, together with a review of results in the literature. PMID:15544778
Webb, Jill B; O'Brien, Mary; John, Philip R; Nishikawa, Hiroshi
A case of a Chiari malformation with an extraordinarily thick occipital bone is described. The thick occipital bone might make the posterior fossa narrow with consequent herniation of the cerebellar tonsils to the foramen magnum and formation of a syrinx. At dural plasty, well-developed marginal and occipital sinuses should be deliberately handled with the preservation of normal venous drainage. This case gives us the essence of the occurrence mechanisms of Chiari malformation and foramen magnum decompression. PMID:21339798
Yasuhara, Takao; Miyoshi, Yasuyuki; Date, Isao
Risk factors were studied in 370 children with internal urinary system (IUS) anomalies, coming from 105,374 consecutive births of known outcome. The incidence of IUS malformations was 3.51 per 1,000 births. Diagnosis was performed prenatally in 54.4% of patients. Two hundred and fifty-two patients had isolated IUS anomalies; 118 (31.8%) of the children had at least one non-urinary malformation. Fifty-five
C. Stoll; Y. Alembik; M. P. Roth; B. Dott; P. Sauvage
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.
Mirzaa, Ghayda M.; Paciorkowski, Alex R.; Smyser, Christopher D.; Willing, Marcia C.; Lind, Anne C.; Dobyns, William B.
Congenital pseudoarthrosis is a pathologic entity that may be isolated, or may be associated with neurofibromatosis. We report the case of a 3-year-old female with congenital pseudoarthrosis involving the right tibia and fibula. Magnetic resonance imaging (MRI) and complementary magnetic resonance angiogram (MRA) revealed a lobulated mass with vivid enhancement, which led to the diagnosis of venous malformation. This is the first report of congenital pseudoarthrosis caused by the presence of a vascular malformation. PMID:16967289
Al-Hadidy, A; Haroun, A; Al-Ryalat, N; Hamamy, H; Al-Hadidi, S
Tbx1 belongs to the family of T-box containing transcription factors. In humans, TBX1 is implicated in the etiology of the DiGeorge syndrome. Inactivation of the Tbx1 gene in mice produces a variety of malformations including abnormal branching of the heart outflow tract, deficiencies in the branchial arch derivatives, agenesis of pharyngeal glands and abnormal development of the auditory system. We analyze here the middle and inner ear phenotypes of the Tbx1 null mice. The middle ear is strongly affected. Its skeletal components are malformed to varying degrees, some being slightly hypoplastic and others completely absent. However, a seemingly normal-looking tympanic membrane can still be recognized. Middle ear anomalies are associated with other skeletal deficiencies in the branchial arch-derived skeleton. These phenotypes derive from a combination of the failure of the posterior branchial arches to develop and the misrouting of neural crest cells. The inner ears of Tbx1(-/-) animals are hypoplastic. No vestibular or cochlear structures are detectable, but the endolymphatic duct, the cochleovestibular ganglia and residual sensory patches are still identifiable. Molecular analyses revealed a seemingly normal spatial distribution of a variety of patterning markers in the otic vesicles of Tbx1 null mutants at E9.0. However, 1 day later, several of these markers presented altered domains of expression in the otocysts of these mutant embryos, suggesting that Tbx1 is not required for the establishment of spatial patterns in the otocyst, but rather for their maintenance. The inability of the Tbx1(-/-) embryos to keep properly segregated functional domains in the otocyst is likely the cause of the strong inner ear phenotypes observed in these mutants. PMID:15652707
Moraes, Filipa; Nóvoa, Ana; Jerome-Majewska, Loydie A; Papaioannou, Virginia E; Mallo, Moisés
Pineal hemorrhage only occurs in rare cases, and this known to have several different causes such as germ cell tumors, pineal cysts and vascular malformations, including the cavernous malformations. Pineal cavernous malformations are extremely rare: to date only fifteen cases have been reported worldwide. Although the diagnosis of pineal cavernous malformation is not easy because of the extreme rareness of this condition, the presence of this lesion can be suspected based on its typical radiological findings. Case 1. A 42-year- old man presented with a limitation in his upward gazing. Radiologic examinations showed acute hemorrhage in the pineal region. He underwent ventriculo-peritoneal (VP) shunting but the patient's condition deteriorated after the shunting surgery. We operated and totally removed the tumor and the hemorrhages via an occipital-transtentorial approach. Case 2. A 37-year-old man presented with diplopia. Radiologic examinations showed acute hemorrhage in the third ventricle. He underwent VP shunting, and after this procedure the diplopia was aggravated. We operated and totally removed the tumor and the hemorrhages via an occipital-transtentorial approach. If there is no doubt about the pineal cavernous malformation on MR imaging, we strongly recommend early surgical intervention without performing a risky biopsy. In this study, we describe our experiences for the diagnosis of cavernous malformations in the pineal region with special emphasis on the radiological aspects and the clinical course of this disease.
Kim, Dong-Seok; Shim, Kyu-Won; Kim, Tae-Gon; Chang, Jong-Hee; Park, Yong-Gou
Pineal hemorrhage only occurs in rare cases, and this known to have several different causes such as germ cell tumors, pineal cysts and vascular malformations, including the cavernous malformations. Pineal cavernous malformations are extremely rare: to date only fifteen cases have been reported worldwide. Although the diagnosis of pineal cavernous malformation is not easy because of the extreme rareness of this condition, the presence of this lesion can be suspected based on its typical radiological findings. Case 1. A 42-year- old man presented with a limitation in his upward gazing. Radiologic examinations showed acute hemorrhage in the pineal region. He underwent ventriculo-peritoneal (VP) shunting but the patient's condition deteriorated after the shunting surgery. We operated and totally removed the tumor and the hemorrhages via an occipital-transtentorial approach. Case 2. A 37-year-old man presented with diplopia. Radiologic examinations showed acute hemorrhage in the third ventricle. He underwent VP shunting, and after this procedure the diplopia was aggravated. We operated and totally removed the tumor and the hemorrhages via an occipital-transtentorial approach. If there is no doubt about the pineal cavernous malformation on MR imaging, we strongly recommend early surgical intervention without performing a risky biopsy. In this study, we describe our experiences for the diagnosis of cavernous malformations in the pineal region with special emphasis on the radiological aspects and the clinical course of this disease. PMID:16385664
Kim, Dong-Seok; Shim, Kyu-Won; Kim, Tae-Gon; Chang, Jong-Hee; Park, Yong-Gou; Choi, Joong-Uhn
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.
Dompmartin, Anne; Vikkula, Miikka; Boon, Laurence M
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...
Objective: To describe and evaluate an ear piercing and earring retention method for individuals with metal hypersensitivity. Setting: Private facial plastic surgery practice associated with a tertiary care medical center. Methods: Thirty-one patients with a history of hypersensitivity to metallic jewelry (62 ears) underwent earlobe piercing with an intravenous catheter. Results: None of the patients experienced an infection or hypersensitivity
Anthony J. Cornetta; David Reiter
Many inner ear disorders cannot be adequately treated by systemic drug delivery. A blood-cochlear barrier exists, similar physiologically to the blood-brain barrier, which limits the concentration and size of molecules able to leave the circulation and gain access to the cells of the inner ear. However, research in novel therapeutics and delivery systems has led to significant progress in the
Erin E. Leary Swan; Mark J. Mescher; William F. Sewell; Sarah L. Tao; Jeffrey T. Borenstein
Patient with a round and soft lesion completely covered with skin without modification in color fulfilling approximately 90% of external ear canal diameter. Patient’s complain was dullness sensations on affected ear. CT scan demonstrated lack of tympanic membrane commitment and pathological findings were compatible with hemangioma. Conclusion: It is important to define whether there is hemangioma's involvement of tympanic membrane,
José Faibes Lubianca Neto; Mauricio Schreiner Miura; Catia Saleh; Marina de Andrade; Melina Assmann
Animal studies on inner ear development, repair and regeneration provide understanding of molecular pathways that can be harnessed for treating inner ear disease. Use of transgenic mouse technology, in particular, has contributed knowledge of genes that regulate development of hair cells and innervation, and of molecular players that can induce regeneration, but this technology is not applicable for human treatment, for practical and ethical reasons. Therefore other means for influencing gene expression in the inner ear are needed. We describe several gene vectors useful for inner ear gene therapy and the practical aspects of introducing these vectors into the ear. We then review the progress toward using gene transfer for therapies in both auditory and balance systems, and discuss the technological milestones needed to advance to clinical application of these methods.
Fukui, Hideto; Raphael, Yehoash
Previous works have shown that the ear is a promising candidate for biometric identification. However, in prior work, the preprocessing of ear images has had manual steps and algorithms have not necessarily handled problems caused by hair and earrings. We present a complete system for ear biometrics, including automated segmentation of the ear in a profile view image and 3D shape matching for recognition. We evaluated this system with the largest experimental study to date in ear biometrics, achieving a rank-one recognition rate of 97.8 percent for an identification scenario and an equal error rate of 1.2 percent for a verification scenario on a database of 415 subjects and 1,386 total probes. PMID:17568136
Yan, Ping; Bowyer, Kevin W
Geometrical methods of feature extraction from ear images in order to perform human identification are presented. Geometrical approach is motivated by the actual procedures used by police and forensic experts (so-called ear otoscopy). In their work, geometrical features of ears such as size, height, width, and shapes of earlobe are useful and valid proofs of identity. The contribution of the article is development of the new and original methods of geometrical feature extraction from 2D ear images. Four novel algorithms of ear feature extraction from contour images are described in detail. Moreover, identification results obtained for each of the methods, based on the distance of feature vectors in the feature space, are presented.
Earth Sciences: Instrumentation and Facilities (EAR/IF) Program Solicitation NSF 04-507 Replaces ... of Earth Sciences (EAR) supports research and education focused on understanding Earth dynamics ...
Lesion of ossicular chain is a common ear disease impairing the sense of hearing. A comprehensive numerical model of human ear can provide better understanding of sound transmission. In this study, we propose a three-dimensional finite element model of human ear that incorporates the canal, tympanic membrane, ossicular bones, middle ear suspensory ligaments/muscles, middle ear cavity and inner ear fluid. Numerical analysis is conducted and employed to predict the effects of middle ear cavity, malleus handle defect, hypoplasia of the long process of incus, and stapedial crus defect on sound transmission. The present finite element model is shown to be reasonable in predicting the ossicular mechanics of human ear.
Liu, Yingxi; Li, Sheng; Sun, Xiuzhen
History.—Primary and secondary types.—Incidence in (a) Phthisical patients, (b) Patients with suppurating ears, (c) Children.—Modes of infection: (a) by Eustachian tube, (b) by blood-stream.—Signs and symptoms: Painless onset; Early appearances of middle-ear; Infiltration of tympanic membrane; Multiple perforation; Granulation tissue; Type of discharge.—Examination of discharge and of granulation tissue.—Course of disease in middle-ear; Extensions; Complications.—Special types: Mastoiditis in children; Tumour formation.—Deafness.—Reports of twenty cases.
Ormerod, F. C.
Students learn about the anatomy of the ear and how the ears work as a sound sensor. Ear anatomy parts and structures are explained in detail, as well as how sound is transmitted mechanically and then electrically through them to the brain. Students use LEGOÂ® robots with sound sensors to measure sound intensities, learning how the NXT brick (computer) converts the intensity of sound measured by the sensor input into a number that transmits to a screen. They build on their experiences from the previous activities and establish a rich understanding of the sound sensor and its relationship to the TaskBot's computer.
GK-12 Program, Computational Neurobiology Center, College of Engineering,
During the mid-1960s, 22 977 pregnant women in Scotland and England were followed up prospectively for the incidence of malformations in their infants evident at birth or within six weeks. During the first 13 weeks of gestation 620 of these women had been prescribed Debendox (dicyclomine-doxylamine-pyridoxine) and 743 other women agents other than Debendox containing pyridoxine. Of the 620 women given Debendox, 589 (95%) had a normal outcome of pregnancy, 8 (13%) delivered a malformed infant, and 23 (3.7%) had other outcomes. Of the 22 357 women who were given Debendox, 445 (2.0%) produced infants with malformation; and the rates for all abnormal outcomes among women given Debendox and those not given the drug were 5.0% and 5.4% respectively. These results support the hypothesis that Debendox is not teratogenic.
Fleming, D M; Knox, J D; Crombie, D L
In spite of their congenital origin, only 18-20% of cerebral AVMs are diagnosed during infancy and childhood. Intracranial haemorrhage is the presenting clinical manifestation in 75-80% of paediatric patients and is associated with a high morbidity and mortality. The natural history of untreated cerebral AVMs in children is worse than in adults, in relation to a longer life expectation, a higher annual risk of AVM bleeding (3.2% vs. 2.2%) and a higher incidence of posterior fossa and basal ganglia AVMs, most of which present with massive haemorrhages. The surgical excision remains the treatment of choice for parenchymal AVMs in children; AVM complete removal is currently achieved in 70-90% of the patients. With the advent of new agents for endovascular management, preoperative AVM embolization has further improved surgical results. Stereotactic radiosurgery appears to be a successful treatment option in small or moderate sized AVMs. Recent studies have demonstrated low complication rates with this technique in paediatric patients. We reviewed our experience with 37 paediatric AVMs treated at the Section of Paediatric Neurosurgery of the Catholic University of Rome between 1980 and 1997. Twenty-three patients underwent surgery as the only treatment modality; endovascular embolization was combined with the surgical treatment in a further four cases. Radiosurgery was utilized as the only treatment in three patients and in combination with other techniques in an other three children (with surgery in one case and with AVM embolization in the remaining two subjects). No treatment was carried out in three patients because of excessively critical condition on admission; endovascular embolization failed in a further patient because of the anatomical complexity of the malformation. Previous studies have demonstrated a quite strict correlation between AVM complexity based on Spetzler and Martin's grading system and patients outcome. A less direct relationship has been observed in the present study. In our experience the factors which were more closely predictive of patients' outcome were the occurrence of an AVM bleeding and the neurological status on admission. In spite of the low number of cases in the single subsets of patients this study seems to support the role of AVM embolization and radiosurgery as effective adjuvant techniques in the management of cerebral AVMs in children. PMID:10795888
Di Rocco, C; Tamburrini, G; Rollo, M
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
Withnell, Robert H; Gowdy, Lauren E
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.
Vrugt, B.; Huber, A. M.
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.
Cornelis, F., E-mail: firstname.lastname@example.org [Institut Bergonie, Department of Radiology (France); Neuville, A. [Institut Bergonie, Department of Pathology (France); Labreze, C. [Pellegrin Hospital, Department of Pediatric Dermatology (France); Kind, M. [Institut Bergonie, Department of Radiology (France); Bui, B. [Institut Bergonie, Department of Oncology (France); Midy, D. [Pellegrin Hospital, Department of Vascular Surgery (France); Palussiere, J. [Institut Bergonie, Department of Radiology (France); Grenier, N. [Pellegrin Hospital, Department of Radiology (France)
We describe the presentation and management of gastrointestinal perforation in four neonates with anorectal malformations. Two neonates with high malformation had pneumoperitoneum on X-ray; surgery revealed sigmoid perforation in one patient and transverse colon perforation in the other. Colostomy was done, followed by posterior sagittal anorectoplasty at four months; both recovered satisfactorily. The third neonate had no radiological feature of gut perforation but cecal perforation was found at surgery; the neonate recovered following right hemicolectomy with stoma followed by anorectoplasty at five months. The fourth neonate presented with clinical and radiological features of perforation and recovered satisfactorily after anoplasty and colostomy. PMID:15250569
Sharma, Shyam B; Gupta, Vipul; Sharma, Vinod
... help with understanding microcephaly-capillary malformation syndrome? angiogenesis ; apoptosis ; autophagy ; autosomal ; autosomal recessive ; capillaries ; cell ; degrade ; developmental delay ; ...
Vascular tumors affect the head and neck commonly but arteriovenous malformations are rare. Vascular malformations are often present at birth and grow with the patient, usually only becoming significant later in childhood. Embolization has been the mainstay of treatment in massive and complex arteriovenous malformations. We present a case of massive extracranial arteriovenous malformation in a 7-year-old boy causing significant workload on right heart and respiratory distress. The management of angioembolization under general anaesthesia and anaesthetic concerns are presented.
Shamim, Faisal; Ullah, Hameed; Rehman, Azhar
... help with understanding VMCM? angiogenesis ; autosomal ; autosomal dominant ; calcium ; cell ; cutaneous ; deficiency ; endothelial cells ; gene ; inflammation ; inherited ; kinase ; lesion ; malformation ; ...
An essential component in the process of hearing is the transformation of sound from acoustic to mechanical vibration in the middle ear. In order to study this phenomenon, computational models have been introduced to model the behavior of the tympanic membrane and its interaction with the surrounding acoustical spaces. Using such a computational model, one gains an increased understanding of the relationship between its structure and performance, which may assist in preventive, diagnostic, and reconstructive medical applications. The goal of this present work is to expand the computational simulation capabilities of current eardrum models using modern finite element modeling techniques. A fully coupled structural acoustic model is presented using modern shell element technology. Anatomical geometries for the eardrum, acoustic spaces of the ear canal and middle ear cavity, and the ossicles are utilized via muCT imaging. A new computational algorithm is used to compute the frequency response of this model over a wide frequency range. This approach uses the matrix Pade-via-Lanczos algorithm to construct reduced-order models around chosen reference frequencies, which can be solved efficiently at many frequencies within a frequency window. An adaptive algorithm is introduced to span a given frequency range by introducing new reference frequencies as necessary. Results for the middle ear model, using this multifrequency algorithm, are presented for intact and modified middle ear anatomies. These modifications serve to demonstrate the utility of the computational approach in understanding the relationships between the morphological structure of the middle ear and its functionality.
Tuck-Lee, James Peter
In a large scale screen for genetic defects in zebrafish embryogenesis we identified mutations affecting several aspects of ear development, including: specification of the otic placode, growth of the otic vesicle (otocyst), otolith formation, morphogenesis of the semicircular canals and differentiation of the otic capsule. Here we report initial phenotypic and genetic characterization of 20 of these mutations defining 13 independent loci. Embryos mutant at the quadro locus display abnormal specification of the otic placode. As revealed by dlx-3 expression, the otic field in the mutant embryos is smaller or split into two fields. At later stages of development the ear of quadro mutants is frequently divided into two smaller, incomplete units. Four loci affect ear shape shortly after formation of the otic vesicle. All of them also display abnormal brain morphology. Mutations in five loci result in the absence of otolith formation; two of these also produce changes of ear morphology. Two loci, little richard and golas, affect morphology of the otic vesicle shortly before formation of the semicircular canals. In both cases the morphogenesis of the semicircular canals is disrupted. Finally, the antytalent locus is involved in late expansion of the ear structure. Analysis of mutations presented here will strengthen our understanding of vertebrate ear morphogenesis and provide novel entry points to its genetic analysis. PMID:9007247
Malicki, J; Schier, A F; Solnica-Krezel, L; Stemple, D L; Neuhauss, S C; Stainier, D Y; Abdelilah, S; Rangini, Z; Zwartkruis, F; Driever, W
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
Claude Stoll; Yves Alembik; Beatrice Dott; Marie-Paule Roth
The Finnish Register of Congenital Malformations, a case-referent register, was used to analyze the associations between the parental occupation and the children born with malformations. The women working in industrial and construction occupations had more children with central nervous system (CNS) and musculoskeletal malformations than the referent mothers. The women employed in transport and communication occupations had more children with
K. Hemminki; P. Mutanen; K. Luoma; I. Saloniemi
A series of 24 patients with Chiari malformation and hydromyelia, treated at the Prince of Wales Children's Hospital between 1975 and 1991, is reviewed. The age range of these patients was 3 to 19 years. Eleven had a Chiari 1 malformation and 13 had a Chiari 2 malformation. The follow-up period ranged from 6 months to 16 years with a
R. F. C Jones; J. G. J Ayer; W. A Stening
Nine angiomatous malformations situated on the outer surface of the dura and one situated in the pelvis, from which draining veins pierced the dura and joined the coronal venous plexus are described. The clinical manifestations and myelographic appearances are similar to those of the majority of intradural angiomatous malformations. This suggests that neurological deficiencies with both types of malformation are
B. E. Kendall; V. Logue
The head is anatomically the most sophisticated part of the body and its evolution was fundamental to the origin of vertebrates; understanding its development is a formidable problem in biology. A synthesis of embryology, evolution and mouse genetics is shaping our understanding of head development and in this review we discuss its application to studies of human craniofacial malformations. Many
Andrew O. M. Wilkie; Gillian M. Morriss-Kay
Only limited information is available concerning dural arteriovenous malformations (AVMs) found in association with cerebral aneurysms. The present report focuses on six such cases, concentrating attention on clinical characteristics and significance. Of a total of 46 dural AVMs encountered over a given period, six (13%) were linked with cerebral aneurysms. Particularly strong associations were noted for dural AVMs in the
Sachio Suzuki; Ryusui Tanaka; Yoshio Miyasaka; Akira Kurata; Makoto Takano; Kiyotaka Fujii; Hiroshi Takagi
Arteriovenous malformations of the brain can carry considerable morbidity and mortality in the setting of rupture. The complex angioarchitecture and hemodynamic alteration requires careful consideration in diagnostic and management approaches. In this review, the authors define the pathophysiology, outline diagnostic methods, and highlight current management approaches. PMID:24504610
Asif, Kaiz; Leschke, John; Lazzaro, Marc A
We report the first familial cases with two different types of posterior fossa cystic malformation and a leukodystrophic-like aspect on cerebral magnetic resonance imaging (MRI). The girl and her brother had severe encephalopathy, marked hypotonia, absent deep tendon reflexes, macrocrania, gigantism, and dysmorphic face and extremities. The girl had generalized seizures. The boy had unilateral cataract and bilateral optic atrophy.
Véronique T. Humbertclaude; Philippe A. Coubes; Nicolas Leboucq; Bernard B. Echenne
Congenital Pulmonary Airway Malformation (CPAM) and lung sequestration are often discovered on routine prenatal sonography. While some lesions may be large and cause serious complications in the fetus or newborn, many will be asymptomatic at birth. Some authors advocate simple observation because of the lack of data on the incidence of long-term complications. However, there are very few described cases
Jean-Martin Laberge; Ioana Bratu; Hélène Flageole
Summary A rare case of dural sinus malformation with dural arteriovenous fistula in an infant is presented. Presenting symptom was progressive macrocrania without hydrocephalus. A high flow arteriovenous of the sigmoid sinus associated with jugular bulb diaphragm was demonstrated. Reflux in the intracranial sinus was present. The shunt was successfully occluded by transarterial embolization. The natural history and treatment strategy are discussed.
Yau, C.Kwong; Alvarez, H.; Lasjaunias, P.
Summary A rare case of dural sinus malformation with dural arteriovenous fistula in an infant is presented. Presenting symptom was progressive macrocrania without hydrocephalus. A high flow AVS of the sigmoid sinus associated with jugular bulb diaphragm was demonstrated. Reflux in the intracranial sinus was present. The shunt was successfully occluded by transarterial embolization. The natural history and treatment strategy are discussed.
Yau, C.K.; Alvarez, H.; Lasjaunias, P.
The craniometric linear dimensions of the posterior fossa have been relatively well studied, but angular craniometry has been poorly studied and may reveal differences in the several types of craniocervical junction malformation. The objectives of this study were to evaluate craniometric angles compared with normal subjects and elucidate the main angular differences among the types of craniocervical junction malformation and the correlation between craniocervical and cervical angles. Angular craniometries were studied using primary cranial angles (basal and Boogard's) and secondary craniocervical angles (clivus canal and cervical spine lordosis). Patients with basilar invagination had significantly wider basal angles, sharper clivus canal angles, larger Boogard's angles, and greater cervical lordosis than the Chiari malformation and control groups. The Chiari malformation group does not show significant differences when compared with normal controls. Platybasia occurred only in basilar invagination and is suggested to be more prevalent in type II than in type I. Platybasic patients have a more acute clivus canal angle and show greater cervical lordosis than non-platybasics. The Chiari group does not show significant differences when compared with the control, but the basilar invagination groups had craniometric variables significantly different from normal controls. Hyperlordosis observed in the basilar inavagination group was associated with craniocervical kyphosis conditioned by acute clivus canal angles. PMID:23640096
Botelho, Ricardo Vieira; Ferreira, Edson Dener Zandonadi
Auricular reattachment and reconstruction following traumatic ear avulsion is a challenging surgical problem. Suggested reconstruction methods include direct reattachment, composite grafting, pocket methods, coverage with periauricular flaps, and microsurgical repair. A published alternative is reattachment and burial of the amputated part under a postauricular flap. If circumstances delay the surgical intervention, what is a safe window to still consider this form of treatment? In the current report, we present a case of a complete partial ear avulsion, which was reattached in the ER as a free graft. Two days later the cartilage was banked under a postauricular flap. A 22 year-old male had his ear was completely bitten off which was re-attached. Two days later the skin of the avulsed segment was dark and bloodless. The avulsed segment was removed from the ear. The overlying skin was dissected off of the attached ear leaving perichondrium on the medial aspect of the ear. The cartilage was then reattached. A postauricular pocket/flap was created and the ear tucked and secured to the postauricular fascia and skin closed overtop. Five weeks later, the patient had division and inset of the flap with a full thickness skin graft to the posterior aspect of the ear. Our results and experiences suggest that immediate reconstruction may not be crucial. PMID:24793138
Brockhoff, Hans C; Zide, Michael
This article describes the effect of various pathologies on power reflectance (PR) and absorbance measured in human adults. The pathologies studied include those affecting the tympanic membrane, the middle-ear ossicles, the middle-ear cavity, the inner ear, and intracranial pressure. Interesting pathology-induced changes in PR that are statistically significant have been reported. Nevertheless, because measurements of PR obtained from normal-hearing subjects have large variations and some pathology-induced changes are small, it can be difficult to use PR alone for differential diagnosis. There are, however, common clinical situations without reliable diagnostic methods that can benefit from PR measurements. These conditions include ears with a normal-appearing tympanic membrane, aerated middle-ear cavity, and unknown etiology of conductive hearing loss. PR measurements in conjunction with audiometric measurements of air–bone gap have promise in differentiating among stapes fixation, ossicular discontinuity, and superior semicircular canal dehiscence. Another possible application is to monitor an individual for possible changes in intracranial pressure. Descriptions of mechanisms affecting PR change and utilization of PR measurements in clinical scenarios are presented. PMID:23900180
Nakajima, Hideko Heidi; Rosowski, John J; Shahnaz, Navid; Voss, Susan E
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.
Beutner, Dirk; Huttenbrink, Karl-Bernd
The middle ear cavity is exposed and vulnerable to waterborne infection in patients with grommets, perforated tympanic membranes and after radical mastoidectomy. Patients suffering from chronic otitis externa and those receiving radiotherapy to the head and neck also have an increased susceptibility to such infections. Many advocate the use of waterproof ear protectors in such patients when swimming. The choice of a suitable ear protector is complicated as many are now available commercially. This study was therefore designed to evaluate the degree of protection afforded by seven different ear protectors in a group of six swimmers. A very sensitive, original method of water detection was devised incorporating a pH indicator strip. The results showed conclusively that cotton wool coated in paraffin jelly BPC was the most effective method of ear protection and was found to be comfortable and easy to use. Other methods, including custom-made silicone rubber plugs, were not adequate in sealing the external auditory canal and are considerably more expensive. PMID:2614235
Robinson, A C
This paper describes the effect of various pathologies on power reflectance (PR) and absorbance measured in human adults. The pathologies studied include those affecting the tympanic membrane, the middle-ear ossicles, the middle-ear cavity, the inner ear, and intracranial pressure. Interesting pathology-induced changes in PR that are statistically significant have been reported. Nevertheless, because measurements of PR obtained from normal-hearing subjects have large variations and some pathology-induced changes are small, it can be difficult to use PR alone for differential diagnosis. There are, however, common clinical situations without reliable diagnostic methods that can benefit from PR measurements. These conditions include ears with a normal-appearing tympanic membrane, aerated middle-ear cavity and unknown etiology of conductive hearing loss. PR measurements in conjunction with audiometric measurements of air-bone gap have promise in differentiating among stapes fixation, ossicular discontinuity and superior semicircular canal dehiscence. Another possible application is to monitor an individual for possible changes in intracranial pressure. Descriptions of mechanisms affecting PR change and utilization of PR measurements in clinical scenarios are presented.
Nakajima, Hideko Heidi; Rosowski, John J.; Shahnaz, Navid; Voss, Susan E.
Mouse embryonic fibroblasts (MEFs) are commonly utilized as a primary cell culture model and have several advantages over other types of ex vivo-derived cells. However, the successful generation of MEFs is time consuming and requires a certain level of mouse expertise to successfully complete. Thus, primary ear-derived fibroblasts offer an acceptable alternative to MEFs. Fibroblasts derived from the pinna of adult mice are easily attainable with minimal skill, proliferate rapidly, and are easy to manipulate. Likewise, because they are derived from adult mice, other organs can be concurrently harvested for the isolation of additional types of primary cells. Similar to MEFs, ear fibroblasts are an excellent ex vivo model system to study mechanisms associated with virus infection and produce a diverse array of inflammatory mediators, such as cytokines and interferon. Here, we describe a highly versatile and simple method for the derivation, maintenance, and viral challenge of primary ear-derived fibroblasts from mice. PMID:23824888
Moore, Chris B; Allen, Irving C
Surgical reconstruction of an earlobe requires adequate support without sacrificing the delicacy necessary for an attractive result. A two-stage ear lobule reconstruction using a mastoid skin pocket and cartilage from the nasal septum was performed in six patients. The earlobe aesthetics were acceptable and allowed ear piercing. There were no major complications, including no loss of flap, graft extrusion, septal perforation, or infection. Range of follow-up was 1 to 6 years, with an average of 3 years. No revisions have been performed. A two-stage technique for ear lobule reconstruction is described using septal cartilage to preserve shape and definition that has the additional advantage of minimal morbidity. PMID:23542248
Bastidas, Nicholas; Jacobs, Jordan M S; Thorne, Charles H
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.
Evenhouse, Raymond J.; Chen, Xiaoming
Dermoid cysts of the head and neck are rare lesions comprised of epidermal and mesodermal elements. We report a dermoid cyst presenting in the middle ear of the youngest patient reported to date. Structures of endodermal descent were also identified, but, given that the entire middle ear mucosa is of endodermal origin, specific classification as a teratoma would be imprecise. This lesion is interesting in that it did not directly involve the mastoid. Possible embryologic sites of origin are discussed. ImagesFigure 1Figure 2Figure 3Figure 4Figure 5
Farris, Paul E.; Meyerhoff, William L.; Vuitch, Frank
Mayer Rokitansky Kuster Houser syndrome (MRKH syndrome) is characterized by Mullerian duct structures agenesis, vaginal atresia\\u000a being the commonest variant. It can be associated with renal, skeletal, spine and other malformations. Patient with Mayer\\u000a Rokitansky syndrome has a varied presentation from newborn period to adolescence. Thorough investigations are required for\\u000a classification of the syndrome and diagnosis of associated anomalies. The
Shreeprasad P. Patankar; Vijay Kalrao I; Shilpa S. Patankar
Cutaneous cystic lymphatic malformations consist of dilatations of various sizes, developed from the lymphatic system. Various clinical presentations exist, which are more or less complex and severe. MRI is the best examination to determine the extent of deep lesions. Therapeutic decisions usually follow multidisciplinary consultations. In localized superficial forms, whether surgical excision or abstention is required. In macrocystic forms, sclerotherapy is the first-line treatment. PMID:21074349
Lorette, Gérard; Vaillant, Loïc; Wiersbicka, Ewa; Herbreteau, Denis
The treatment of arteriovenous malformations (AVMs) requires a multidisciplinary management including microsurgery, endovascular embolization, and stereotactic radiosurgery (SRS). This article reviews the recent advancements in the multimodality treatment of patients with AVMs using endovascular neurosurgery and SRS. We describe the natural history of AVMs and the role of endovascular and radiosurgical treatment as well as their interplay in the management of these complex vascular lesions. Also, we present some representative cases treated at our institution.
Plasencia, Andres R.; Santillan, Alejandro
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 etioiogic 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, hemimegalencephaiy, classical iissencephaly, subcortical band heterotopia, periventricular nodular heterotopia, polymicrogyria, and schizencephaly will be presented.
Leventer, Richard J.; Guerrini, Renzo; Dobyns, William B.
Malformations of the inferior vena cava (IVC) are rare presentations, exceptional in children, and are usually asymptomatic.They are caused by disturbances in the embryological formation of the venous system or can develop as a result of perinatal venous thrombosis with secondary impairment of the venous development. We report the case of a 14 year old boy,admitted for pediatric evaluation before undergoing plastic surgery in order to remove superficial varicose veins of the lower abdomen. The patient presents with inequality in circumference and length of the legs. Laboratory investigations are normal and the abdominal ultrasound describes hypoplasia of the retrohepatic segment of the inferior vena cava. The diagnosis of complex malformation of the abdominal deep venous system (retrohepatic vena cava atresia, cavo-caval anastomosis through azygos veins, abnormal formation of the inferior vena cava with the absence of the left iliac vein) was established through a CT angiography. The presence of abdominal varicose dilations should indicate the necessity to closely look for malformations of the portal and/or caval venous systems. PMID:24742422
Lesanu, G; Balanescu, R; Pacurar, D; Iaru, O; Vlad, R M; Topor, L; Oraseanu, D
Introduction Congenital lung malformations are rare lesions that are most commonly diagnosed antenatally. Management of such lesions, particularly those that are asymptomatic, remains controversial. We undertook a survey to ascertain current practice of surgeons in the UK and Ireland. Methods All consultant members of the British Association of Paediatric Surgeons were asked to complete a survey on congenital lung malformations with respect to antenatal management, symptomatic and asymptomatic lesions, and operative techniques. Results Responses were received from 20 paediatric surgical centres and highlighted the ongoing variability in management of such lesions, particularly those that are asymptomatic. Twenty per cent of surgeons never resect an asymptomatic lesion and twenty-four per cent always do. The remainder intervene selectively, with size being the most commonly stated indication. Most resections are undertaken via thoracotomy although 35% of surgeons use thoracoscopy for some procedures. Conclusions National data based on congenital anomaly registers are needed to determine the natural history of these malformations and to guide future management.
Burge, DM; Marven, SS
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
Sarnat, Harvey B; Flores-Sarnat, Laura
The impedance of the middle-ear air space was measured on three human cadaver ears with complete mastoid air-cell systems. Below 500 Hz, the impedance is approximately compliance-like, and at higher frequencies (500-6000 Hz) the impedance magnitude has several (five to nine) extrema. Mechanisms for these extrema are identified and described through circuit models of the middle-ear air space. The measurements demonstrate that the middle-ear air space impedance can affect the middle-ear impedance at the tympanic membrane by as much as 10 dB at frequencies greater than 1000 Hz. Thus, variations in the middle-ear air space impedance that result from variations in anatomy of the middle-ear air space can contribute to inter-ear variations in both impedance measurements and otoacoustic emissions, when measured at the tympanic membrane.
Stepp, Cara E.; Voss, Susan E.
According to the development of body temperature measurement mode, an ear thermometer with infrared thermopiles sensor is designed for body thermometry Compared with oral thermometer, the accuracy of ear thermometer is acceptable. PMID:24409789
Xie, Haiyuan; Qian, Mingli
Complex combined vascular malformations affecting extremities are an interesting group of vascular malformations because, in addition to the vascular channel anomalies present, they can be associated with other tissue changes and sometimes altered limb growth. At present, magnetic resonance imaging is the gold standard imaging tool to evaluate such complex conditions in children because of its inherent tissue specificity and vascular capabilities that enables characterization of tissues and the vascular channel anomalies both for diagnosis and management of the patient. A brief review of some of these conditions is presented, including Klippel-Trénaunay syndrome, Parkes Weber syndrome, extensive diffuse low-flow venous malformations, Bannayan-Riley-Ruvalcaba syndrome, cutis marmorata telangiectatica congenita, Maffucci's syndrome, and Gorham-Stout disease. PMID:19724993
Lobo-Mueller, Edrise; Amaral, Joao G; Babyn, Paul S; Wang, Qiuyan; John, Philip
Inner ear pathology was studied in adult rats with lipoid nephrosis induced by puromycin aminonucleoside. Although no abnormality was observed in auditory brain-stem responses, significant changes were noted in the stria vascularis. The most striking observation was that intermediate cells were markedly swelled, there-by pressing adjacent marginal cells. Severely affected marginal cells have vacuoles and increased lysosomes and protruded toward
H. Yamane; Y. Nakai
R Mike Mullane is a US astronaut who has flown into space three times on the Space Shuttle. He resigned from NASA in 1990 and has since pursued a career as a professional speaker and author. Do Your Ears Pop in Space? is his third book, and is based on the simple idea of writing down the 500 questions he
This curriculum was designed to help teachers teach their fourth-grade students about hearing and the effects of loud noises on hearing. The program describes the human ear and how it works, explains the health effects of noise, and offers ways for students to protect their hearing from unsafe noise levels. Students are taught how hearing is…
Olson, Dianne R.
This article suggests that the development of listening skills should extend to the "soundscape" of nonspeech acoustical information. It presents a model for effective aural processing, identifies categories of information obtained from nonverbal sound, and explores "ear-tuning" or listening exercises that use sound to glean information about…
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...
A. N. P. I. Popper
The overall objective in defining feature space is to reduce the dimensionality of the original pattern space, whilst maintaining discriminatory power for classification. To meet this objec- tive in the context of ear biometrics a new force field transformation treats the image as an array of mutually attracting particles that act as the source of a Gaussian force field. Under-
David J. Hurley; Mark S. Nixon; John N. Carter
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…
Fues, Marianne Cole
Malformations of neocortical development are associated with cognitive dysfunction and increased susceptibility to epileptogenesis. Rodent models are widely used to study neocortical malformations and have revealed important genetic and environmental mechanisms that contribute to neocortical development. Interestingly, several inbred mice strains commonly used in behavioral, anatomical, and/or physiological studies display neocortical malformations. In the present report we examine the cytoarchitecture and myeloarchitecture of the neocortex of 11 inbred mouse strains and identified malformations of cortical development, including molecular layer heterotopia, in all but one strain. We used in silico methods to confirm our observations and determined the transcriptional profiles of cells found within heterotopia. These data indicate cellular and transcriptional diversity present in cells in malformations. Furthermore, the presence of dysplasia in nearly every inbred strain examined suggests that malformations of neocortical development are a common feature in the neocortex of inbred mice.
Ramos, Raddy L.; Smith, Phoebe T.; DeCola, Christopher; Tam, Danny; Corzo, Oscar
Malformations can occur in all living species, but there is little information about anomalies that occur in snakes and their frequency. This study assessed malformations in newborn South American pit vipers (Bothrops jararaca) and South American rattlesnakes (Crotalus durissus) from wild captured pregnant females (240 and 35 litters, respectively). Newborn snakes were measured, weighed, sexed and studied grossly and by radiography for the presence of malformations. Ninety-five malformed pit vipers were identified from 4,087 births (2.3%), while 36 malformed rattlesnakes were found from 324 births (11.1%). Spinal abnormalities were the most common in both species, followed by fusion of ventral scales. Pit vipers showed a greater range of malformations including schistosomia (22.1%), kinked tail (13.7%), bicephaly (3.1%) and hydrocephaly (2.1%). PMID:23885804
Sant'Anna, S S; Grego, K F; Lorigados, C A B; Fonseca-Pinto, A C B C; Fernandes, W; Sá-Rocha, L C; Catão-Dias, J L
Ear recognition, as a biometric, has several advantages. In particular, ears can be measured remotely and are also relatively static in size and structure for each individual. Unfortunately, at present, good recognition rates require controlled conditions. For commercial use, these systems need to be much more robust. In particular, ears have to be recognized from different angles (poses), under different
John D. Bustard; Mark S. Nixon
...part. Publicly available technology and software not subject to the EAR are described in...States, or release of technology or software subject to the EAR to a foreign national...encryption source code and object code software subject to the EAR. (2) Export...
Ear decomposition of a graph has been extensively studied in relation to graph connectivity. In this paper, a connection of ear decomposition to graph embeddings is exhibited. It is shown that constructing a maximumpaired ear decomposition of a graph and constructing a maximum-genus embedding of the graph are O (e log n)-time equivalent. This gives a polynomial time algorithm for
Jianer Chen; Saroja P. Kanchi
Inspired by the micro-scale ears of the fly Ormia, which show remarkable sound localization ability, the overall objective of this project is to achieve a further understanding of the mechanism the fly ear and use this understanding to develop Fly-Ear Ins...
Background.- Use of MRI makes the association Chiari malformation-cranio-facial synostosis more frequent than expected. The aim of this work was to ascertain the true incidence of Chiari malformation and to understand the reasons of the association between a bone pathology and a CNS malformation.Patients and methods.- The anatomy of the posterior cranial fossa in Crouzon syndrome was retrospectively studied on
G Cinalli; D Renier; G Sebag; C Sainte-Rose; E Arnaud; A Pierre-Kahn
Congenital cardiovascular malformations (CCVMs) of the left side of the heart show familial recurrence of various forms of\\u000a obstructive malformations, including hypoplastic left heart (HLH), interrupted aortic arch, coarctation of the aorta, and\\u000a aortic stenosis. In a previous population-based study in the Baltimore–Washington region, these malformations were associated\\u000a with parental reports of occupational or leisure solvent exposure, overt diabetes, and
K. S. Kuehl; C. A. Loffredo
The patient is a healthy 11-year-old girl with no history of trauma or hearing impairment. She developed pneumococcal meningitis three times, at ages 7, 10, and 11. Intracranial examination revealed, pore expansion and cerebrospinal fluid leakage in the right internal acoustic foramen, which were attributed to a bone malformation of the base of the skull. A procedure was performed to close the cerebrospinal fluid leakage; no relapse has been observed thus far. Previous case reports indicate that repetitive bacterial meningitis is often caused by internal ear malformation, trauma, tumors, or surgical operation. This case suggests the possibility that underlying disorders may not be apparent in cases of repetitive bacterial meningitis and, more proactive investigations are required to prevent further recurrence of meningitis. PMID:24084029
Kajimoto, Madoka; Hasegawa, Shunji; Nomura, Sadahiro; Inoue, Hirofumi; Matsushige, Takeshi; Ichiyama, Takashi
Endovascular embolization is being increasingly used to treat intracranial arteriovenous malformations (AVMs). However, we experienced two patients with retained microcatheters after AVM embolization using Onyx.
Lee, Jae Il; Ko, Jun Kyeung; Lee, Tae Hong
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
Stevenson, Roger E; Schwartz, Charles E; Rogers, R Curtis
Endovascular embolization is being increasingly used to treat intracranial arteriovenous malformations (AVMs). However, we experienced two patients with retained microcatheters after AVM embolization using Onyx. PMID:22949969
Lee, Jae Il; Choi, Chang Hwa; Ko, Jun Kyeung; Lee, Tae Hong
Infants with neural tube defects (NTDs) often have associated congenital anomalies. The reported frequency and types of associated malformations vary between different studies. The purpose of this investigation was to assess the frequency and types of associated malformations among infants with NTDs in a geographically well-defined population from 1979 to 2008 of 402,532 consecutive births. Of the 441 infants with NTDs born during this period, 20.4% had associated malformations. Infants with associated malformations were divided into those with recognizable conditions [11 (2.5%) infants with chromosomal and 23 (5.2%) with non-chromosomal conditions], and those without recognizable conditions [56 (12.7%) infants with multiple malformations]. Associated malformations were more frequent among infants with encephalocele (36.8%) than those with anencephaly (11.5%) or spina bifida (23.8%). Oral clefts and malformations in the musculoskeletal, renal and cardiovascular systems were the most commonly observed associated anomalies. The frequency of associated malformations in infants with NTDs emphasizes the need for a thorough investigation of these infants. Routine screening for other malformations, especially facial clefts and musculoskeletal, renal and cardiac anomalies, may need to be considered in infants with NTDs, and referral of these infants for genetics evaluation and counseling seems warranted. PMID:21337695
Stoll, Claude; Dott, Beatrice; Alembik, Yves; Roth, Marie-Paule
Infants with radial ray deficiencies very often have other associated congenital anomalies. The reported frequency and types of associated malformations vary between different studies. The purpose of this investigation was to assess the frequency and types of associated malformations among infants with radial ray deficiencies in a geographically well-defined population from 1979 to 2004 of 346,831 consecutive births. Of the 73 infants with radial ray deficiencies born during this period (prevalence at birth of 2.1 per 10,000), 75% had associated malformations. Infants with associated malformation were divided into recognizable conditions (16 (22%) infants with chromosomal and 20 (27%) with non chromosomal conditions), and non recognizable conditions (19 (26%) infants with multiple malformations). Trisomies 18 and autosomal deletions were the most frequent chromosomal abnormalities. VACTERL association, thrombocytopenia absent radii syndrome, Fanconi anemia and Holt-Oram syndrome were most often present in recognizable non chromosomal conditions. Malformations in the musculoskeletal, cardiovascular and urogenital systems were the most common other anomalies in infants with multiple malformations and non recognizable conditions. The frequency of associated malformations in infants with radial ray deficiencies emphasizes the need for a thorough investigation of these infants. Routine screening for other malformations especially musculoskeletal, cardiac and urogenital systems anomalies may need to be considered in infants with radial ray deficiencies, and referral of these infants for genetic evaluation and counseling seems warranted. PMID:24032294
Stoll, C; Dott, B; Alembik, Y; Roth, M-P
The ear canal sound pressure and the malleus umbo velocity with bone conduction (BC) stimulation were measured in nine ears from five cadaver heads in the frequency range 0.1 to 10 kHz. The measurements were conducted with both open and occluded ear canals, before and after resection of the lower jaw, in a canal with the cartilage and soft tissues removed, and with the tympanic membrane (TM) removed. The sound pressure was about 10 dB greater in an intact ear canal than when the cartilage part of the canal had been removed. The occlusion effect was close to 20 dB for the low frequencies in an intact ear canal; this effect diminished with sectioning of the canal. At higher frequencies, the resonance properties of the ear canal determined the effect of occluding the ear canal. Sectioning of the lower jaw did not significantly alter the sound pressure in the ear canal. The sound radiated from the TM into the ear canal was investigated in four temporal bone specimens; this sound is significantly lower than the sound pressure in an intact ear canal with BC stimulation. The malleus umbo velocity with air conduction stimulation was investigated in nine temporal bone specimens and compared with the umbo velocity obtained with BC stimulation in the cadaver heads. The results show that for a normal open ear canal, the sound pressure in the ear canal with BC stimulation is not significant for BC hearing. At threshold levels and for frequencies below 2 kHz, the sound in the ear canal caused by BC stimulation is about 10 dB lower than air conduction hearing thresholds; this difference increases at higher frequencies. However, with the ear canal occluded, BC hearing is dominated by the sound pressure in the outer ear canal for frequencies between 0.4 and 1.2 kHz.
Stenfelt, Stefan; Wild, Timothy; Hato, Naohito; Goode, Richard L.
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.
Romeo, U.; Gaimari, G.; Mohsen, M.; Tenore, G.; Palaia, G.
A 1-year-old castrated male Saanen goat was observed to have drooping and edema of the left ear consistent with published accounts of gotch ear in cattle associated with a tick bite. The goat's left ear was edematous from the tip of the pinna to the base of the ear. No signs of trauma or infectious processes were observed. Three engorged Gulf Coast ticks (Amblyomma maculatum) were observed attached inside the ear. Ticks were removed and the ear biopsied at tick attachment sites. The affected ear was treated topically with betadine after removal of the ticks. No other treatment was administered. The goat remained free of clinical signs and the edema of the ear resolved within 3 days after tick removal. No clinical adverse effects of the condition were evident. All three ticks were positive for spotted fever group rickettsia by polymerase chain reaction analysis and showed 100% similarity with the homologous sequence of Rickettsia parkeri. There was no immunohistochemical evidence of spotted fever group rickettsia in the ear samples, supporting the hypothesis that gotch ear is not due to rickettsial infection. This report represents the first apparent case of gotch ear in a goat. PMID:21395411
Edwards, Kristine T; Varela-Stokes, Andrea S; Paddock, Christopher D; Goddard, Jerome
Spinal arteriovenous malformations (sAVMs) are rare vascular lesions whose natural history remains incompletely defined. Several classification schemes for sAVMs have evolved based on an improved understanding of the anatomic characteristics as well as pathophysiologic behavior of these arteriovenous shunts. Advances in endovascular technology have inspired the adoption of interventional techniques both as stand-alone treatment and as part of a multi-modality management paradigm for sAVMs. Further refinements in liquid embolic agents as well as improved microcatheter navigability will contribute to an ever-expanding role for endovascular intervention in the management of these lesions. PMID:22935350
Ducruet, Andrew F; Crowley, R Webster; McDougall, Cameron G; Albuquerque, Felipe C
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.
Lee, Ji Young; Ok, Se Jin; Oh, Chang Keun; Park, Sun Kyung; Kim, Do Wan
Pediatric aneurysms are different from adult aneurysms – they are more rare, are giant and in the posterior circulation more frequently than in adults and may be associated with congenital disorders. Infectious and traumatic aneursyms are also seen more frequently. Vein of Galen malformations are even rarer entities. They may be of choroidal or mural type. Based on the degree of AV shunting they may present with failure to thrive, with hydrocephalus or in severe cases with heart failure. The only possible treatment is by endovascular techniques – both transarterial and transvenous routes are employed. Rarely transtorcular approach is needed. These cases should be managed by an experienced neurointerventionist.
Rao, V. R. K.; Mathuriya, S. N.
We report a case of trigonal cavernous malformation (CM) radiologically mimicking meningioma. The computed tomographic (CT) head angiography and magnetic resonance imaging (MRI) showed a partially calcified lesion with slight contrast enhancement located in the area of the left atrium of lateral ventricle. The lesion was completely removed using microsurgery with a parieto-occipital transcortical approach. The resected mass was histologically confirmed as CM. CM should be considered as differential diagnosis in case of the atrial mass lesion due to lack of hemosiderin ring characteristically seen other seated CM.
Jin, Sung-Chul; Ahn, Jae-Sung; Kwon, Do Hoon
Background Both the diagnosis and treatment regimens for the Chiari I malformation (CIM) are varied and controversial. The present paper\\u000a analyzes the literature regarding this form of hindbrain herniation in regard to definition, anatomy, pathobiology, symptoms,\\u000a findings, treatment, and outcomes.\\u000a \\u000a \\u000a \\u000a Discussions Appropriate literature germane to the CIM is reviewed and discussed. There is variation in the reported anatomy, outcome,\\u000a and treatment for
R. Shane Tubbs; Michael J. Lyerly; Marios Loukas; Mohammadali M. Shoja; W. Jerry Oakes
Summary \\u000a ?Background. The present study was conducted to establish an animal model for the investigation of the pathophysiology and haemodynamics\\u000a of cerebral arteriovenous malformation (AVM) but also to assess therapeutic aspects.\\u000a \\u000a \\u000a \\u000a ?Method. For anatomic and haemodynamic reasons, dogs were chosen as the animal model. An arteriovenous fistula was created by interposing\\u000a a segment of the superficial temporal artery between one
T. A. Pietilä; J. M. Zabramski; A. Thèllier-Janko; K. Duveneck; W. D. Bichard; M. Brock; R. F. Spetzler
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.
Rosowski, John J.; Ravicz, Michael E.; Songer, Jocelyn E.
The anatomy of the middle ear has been studied in nine species of birds, with particular reference to the structure of the ossicle and its relationship to the tympanic membrane. The morphology of the avian middle ear has been compared to that of the reconstructed human middle ear. Drum to stapes foot plate assemblies created during ossiculoplasty operations differ from the pattern found in the avian middle ear in a number of important respects and this may help to explain why they are often unsuccessful. It is not technically feasible to reproduce the avian middle ear pattern exactly in the human middle ear and developments in reconstructive technique should therefore be directed towards reproducing the three ossicle pattern of the mammalian ear. Images Figure 1. Figure 2.
The D0 endcap calorimeter outer hadronic (OH) modules play a major structural role in the calorimeter assembly. The disrete modules, once connected together, form a ring within which other massive calorimetry will reside. It has been proposed that the connection of the OH at the downstream end be accomplished by extending the downstream endplates in the radial direction to form 'ears', and then through-bolting between adjacent ears as shown in Fig. 1. A single 2 1/4 in. dia. bolt is used, and previous calculations have determined that the design load on this joint should be 130,000 lbs tension. The high load and serious consequences of failure make this a critical component in the calorimeter assembly. The purpose of this analysis is to investigate the stresses in the connection and other mechanical characteristics which determine joint performance.
Wands, Bob; /Fermilab
We identified nine individuals from three unrelated Turkish families with a unique autosomal recessive syndrome characterized by type I microtia, microdontia, and profound congenital deafness associated with a complete absence of inner ear structures (Michel aplasia). We later demonstrated three different homozygous mutations (p.S156P, p.R104X, and p.V206SfsX117) in the fibroblast growth factor 3 (FGF3) gene in affected members of these families, cosegregating with the autosomal recessive transmission as a completely penetrant phenotype. These findings demonstrate the involvement of FGF3 mutations in a human malformation syndrome for the first time and contribute to our understanding of the role this gene plays in embryonic development. Of particular interest is that the development of the inner ear is completely disturbed at a very early stage—or the otic vesicle is not induced at all—in all of the affected individuals who carried two mutant FGF3 alleles.
Tekin, Mustafa; Hismi, Burcu Ozturk; Fitoz, Suat; Ozdag, Hilal; Cengiz, Filiz Basak; S?rmac?, Asl?; Aslan, Idil; Inceoglu, Bora; Yuksel-Konuk, E. Berrin; Y?lmaz, Seda Tas?r; Yasun, Oztan; Akar, Nejat
It is estimated that a 4200 kg elephant generates as much as 5.12 kW of heat. How the elephant dissipates its metabolic heat and regulates its body temperature has been investigated during the past seven decades. Findings and conclusions differ sharply. The high rate of metabolic heat coupled with low surface area to volume ratio and the absence of sweat glands eliminate surface convection as the primary mechanism for heat removal. Noting that the elephant ears have high surface area to volume ratio and an extensive vascular network, ear flapping is thought to be the principal thermoregulatory mechanism. A computational and experimental program is carried out to examine flow and heat transfer characteristics. The ear is modeled as a uniformly heated oscillating rectangular plate. Our computational work involves a three-dimensional time dependent CFD code with heat transfer capabilities to obtain predictions of the flow field and surface temperature distributions. This information was used to design an experimental setup with a uniformly heated plate of size 0.2m x 0.3m oscillating at 1.6 cycles per second. Results show that surface temperature increases and reaches a steady periodic oscillation after a period of transient oscillation. The role of the vortices shed off the plate in heat transfer enhancement will be discussed.
Koffi, Moise; Jiji, Latif; Andreopoulos, Yiannis
Porcine ear necrosis was investigated in 23 conveniently chosen farms, consisting of 14 case farms and 9 control farms. Biopsies of lesions and oral swabs from pigs on 11 case farms were examined by histology and bacterial culture. All farms were visited for observations and a survey on management, housing, and the presence of other clinical signs or behavioral vices. Histological examination revealed that the lesions began on the surface and progressed to deeper layers, and that vascular damage did not appear to be the initiating cause. Spirochetes were only rarely observed in histological examination and were not cultured from biopsies and oral swabs. Staphylococcus aureus and Staphylococcus hyicus were cultured from 91% and 66% of samples, respectively. Ear biting and a humid environment were associated with ear necrosis. On some farms large numbers of pigs were affected and lesions were sometimes extensive. The condition appears to be an infectious disease beginning on the surface of the skin; contributing environmental and management factors are likely.
Park, Jeonghwa; Friendship, Robert M.; Poljak, Zvonimir; DeLay, Josepha; Slavic, Durda; Dewey, Catherine E.
Pursed lips breathing (PLB) training is often used in the management of patients with chronic obstructive lung disease (COLD). Previous clinical studies have demonstrated that PLB improves arterial oxygen saturation (SaO2) and CO2 removal as well as relieving dyspnea. Twelve hypoxemic subjects with stable COLD were randomly assigned to either the pursed lips (P) or control group consisting of general relaxation (R). The SaO2 was monitored via ear oximetry, and respiratory rate and tidal volume were monitored using a strain gage transducer and the minute volume was calculated. The PLB was taught by an experienced instructor using the ear oximeter as a monitoring display with a goal toward increasing SaO2. The subject was taught general relaxation (Rlx) with the aid of pleasant music. We compared PLB and Rlx treatments using an A-B-A crossover study design. In both groups, PLB significantly improved SaO2 over baseline (p less than 0.001) whereas Rlx did not. We conclude that patients can learn to increase their SaO2 by PLB using ear oximetry adjunctively. PMID:3731893
Tiep, B L; Burns, M; Kao, D; Madison, R; Herrera, J
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
Summary The purpose of this study is to determine the effectiveness of embolization of each type of vascular malformation. Thirty three patients with a diagnosis of vascular malformations in head and neck regions who were treated by embolization at Siriraj Hospital, Thailand, between 1997-2002 were reviewed retrospectively. There were 19 arteriovenous malformations (AVMs), two arteriolar-capillary types, ten venous malformations, one veno-lymphatic malformation and one mixed capillary and venous types. The goal of treatment is to restore function and to prevent bleeding complications with particularly good cosmetic results. The technique and therapeutic agents depended on the types and flow characteristics of each malformation. Transarterial embolization with N-butyl cyanoacrylate were used in AVMs, unless no arterial route approach, then direct puncture was tried. This was carried out in five patients with AVMs. Polyvinyl alcohol was used in two capillary lesions. All venous malformations were treated by absolute alcohol injection, percutaneously. All had good outcome without serious complications. Two patients had further plastic surgery, one was AVM of eyelid and the other was facial venolymphatic malformation. Embolization is considered to be the primary treatment by eradication of those abnormal vessels directly at the target, whereas delayed plastic surgery may be needed later.
Churojana, A.; Chiewwit, P.; Chuangsuwanich, A.; Aojanepong, C.; Chawalaparit, O.; Suthipongchai, S.
The advent of universal antenatal ultrasonography in many countries has revealed the full spectrum of congenital thoracic malformations (CTMs) and presented clinicians with a number of practical dilemmas to do with diagnosis and management. We present a review of the most common forms of CTMs, including congenital cystic adenomatoid malformation, bronchopulmonary sequestration, and lobar and segmental emphysema. PMID:22305631
Davenport, Mark; Eber, Ernst
Background Congenital malformations remain a common cause of perinatal deaths and even though ultrasonogram can give fairly accurate diagnosis, perinatal autopsy is essential to confirm the diagnosis and look for associated malformations. Objectives To emphasize the importance of perinatal autopsy in diagnosing congenital malformations and to compare the same with the prenatal ultrasound findings. Methods The present study comprises 100 consecutive perinatal autopsies conducted after obtaining the approval from the Institutional Ethics Committee. In cases where prenatal ultrasound findings were available they were compared with the autopsy findings. Results Out of 100 perinatal autopsies, 44 cases were congenital anomalies with M:F = 1:1.5. Majority of the fetuses with congenital malformations (36.36%) were therapeutically terminated, Cental nervous system malformations being the commonest indication. The most common timing of therapeutic termination being 20 -24weeks. Congenital malformations were common between 35-39 weeks gestational age and birth weight range 350- 1000g. The malformations involving the central nervous system were commonest, seen in 15 cases (34.09%) followed by renal anomalies in 9 cases (20.45%) and multiple malformations in 7cases ( 15.91%). Autopsy confirmed the prenatal ultrasound findings in 50% of the cases, added to diagnosis in 29.54%, while it completely changed the primary diagnosis in 9.09% of the cases. Conclusion This study highlights the importance of perinatal autopsy in confirming the diagnosis of congenital anomalies by prenatal ultrasound findings.
Andola, Uma S; AM, Anita; Ahuja, Mukta; Andola, Sainath K
Background: Superficial venous malformations (SVM) are the most frequent vascular malformations. Outpatient percutaneous treatment with ethanol injection has rarely been described. Objective: To analyze the results from treating SVM patients with ethanol sclerotherapy. Methods: 81 patients were followed up prospectively over a median period of 18 months. 47 were female and 34 were male with a median age of 21
José Luiz Orlando; Jose Guilherme Mendes Pereira Caldas; Heloisa Galvão do Amaral Campos; Kenji Nishinari; Nelson Wolosker
Reports of malformation induced by cadmium such as the appearance of vertebral anomalies in carp have been described by the present author. In this paper, the appearance of such malformed fish by exposure to cadmium was confirmed in a repeat experiment. Decalcification of the fish was studied from spinal x-ray photographs and the results of some elements analysis.
IntroductionThe difficulty in prognosticating the clinical and intellectual outcome of fetuses presenting with a Dandy-Walker malformation (DWM) comes from the great variety of cystic, median, and retrocerebellar malformations that probably have nothing in common and the variability of the definitions given to these lesions. In addition, many of these lesions can mimic each other. A correct diagnosis cannot be made
O. Klein; A. Pierre-Kahn; N. Boddaert; D. Parisot; F. Brunelle
Background: Mayer-Rokitansky-Küster-Hauser syndrome is defined as Müllerian aplasia with vaginal agenesis and uterine remnants. It is commonly associated with renal and sometimes vertebral anomalies. MRKH syndrome or distal vaginal atresia is sometimes associated with anorectal malformations. The purpose of this study was to describe seven females with vaginal agenesis or distal vaginal atresia and an anorectal malformation and review the
Tomas Wester; Juan A. Tovar; Risto J. Rintala
Summary Carotid-vertebral anastomoses are commonly detected as incidental findings. But sometimes these channels are important for the clinical condition of the patient. Here a case of right thalamo-capsular arteriovenous malformation is described where a persistent primitive hypoglossal artery was the only route for embolization of the arteriovenous malformation.
BACKGROUND: The percentage of children born after IVF will continue to increase due to demographic changes such as increasing maternal age and new developments in assisted reproduction techniques. IVF conceptions may carry an increased risk of congenital malformations. METHODS: We compared overall and specific congenital malformation rates calculated for IVF children (n 4224) and naturally conceived children (n 314 605),
S. Anthony; S. E. Buitendijk; C. A. Dorrepaal; K. Lindner; D. D. M. Braat; A. L. den Ouden
We report two patients aged 65 and 61 years, who presented a subacute dementia with normal CT scan without contrast injection. Angiography showed a dural arteriovenous malformation. The patients improved dramatically with treatment of the malformation. Dementia was characterised by frontal dysfunction, emotional disorders, mnesic and praxic impairment. This neuropsychological pattern suggests a profile of global dementia in the field
Assia Serradj Jaillard; Blandine Peres; Marc Hommel
Of 76 patients in the pediatric age group suffering from cerebrovascular diseases treated in the years 1970–1983, 26 patients (34%) did not harbor intracranial vascular malformations (aneurysms or arterovenous malformations). Two groups of patients were identified: (a) those suffering from a spontaneous intracranial hemorrhage (16 cases); (b) those suffering from an ischemic stroke (10 cases). Of those with spontaneous intracranial
C. Mazza; A. Pasqualin; P. Cavazzani; B. Dalla Bernardina; R. Pian
Benzimidazole compounds have teratogenic effects in domestic and experimental animals. In this study, 14 Manchega ewes were treated orally, under controlled conditions, with 20 mg netobimin (a prodrug of a benzimidazole compound) per\\/kg bodyweight on the 17th day of pregnancy. Congenital malformations and abortions affected 60 per cent of the lambs. The main malformations were skeletal and renal, but vascular
M. Navarro; C. Cristofol; A. Carretero; M. Arboix; J. Ruberte
The Klippel-Feil deformity is a complex of osseous and visceral anomalies, which include low hairline, platybasia, fused cervical vertebrae with a short neck, and deafness. Associated central nervous system abnormalities include occipital cephalocele, Chiari I malformation, syrinx, microcephaly, and hydrocephalus. Herein, we report a case with Klippel-Feil syndrome and Dandy-Walker malformation. PMID:22303802
Karaman, A; Kahveci, H
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
Talal A. Amer; Omran M. El-Shmam
Purpose Cortical malformations (CMs) are increasingly recognized as the epileptogenic substrate in patients with medically refractory neocortical epilepsy (NE). The aim of this study was to test the hypotheses that: 1. CMs are metabolically heterogeneous. 2. The structurally normal appearing perilesional zone is characterized by similar metabolic abnormalities as the CM. Methods Magnetic resonance spectroscopic imaging (MRSI) in combination with tissue segmentation was performed on eight patients with NE and CMs and 19 age-matched controls. In controls, NAA, Cr, Cho, NAA/Cr and NAA/Cho of all voxels of a given lobe were expressed as a function of white matter content and thresholds for pathological values determined by calculating the 95% prediction intervals. These thresholds were used to identify metabolically abnormal voxels within the CM and in the perilesional zone. Results 30% of all voxels in the CMs were abnormal, most frequently because of decreases of NAA or increases of Cho. Abnormal voxels tended to form metabolically heterogeneous clusters interspersed in metabolically normal regions. Furthermore, 15% of all voxels in the perilesional zone were abnormal, the most frequent being decreases of NAA and Cr. Conclusion In CMs metabolically normal regions are interspersed with metabolically heterogeneous abnormal regions. Metabolic abnormalities in the perilesional zone share several characteristics of CMs and might therefore represent areas with microscopic malformations and/or intrinsic epileptogenicity.
Mueller, Susanne G.; Barakos, Jerome A.; Cashdollar, Nathan; Flenniken, Derek L.; Vermathen, Peter; Matson, Gerald B.; Weiner, Michael W.
Spinal and spinal cord malformations are collectively named spinal dysraphisms. They arise from defects occurring in the early embryological stages of gastrulation (weeks 2-3), primary neurulation (weeks 3-4), and secondary neurulation (weeks 5-6). Spinal dysraphisms are categorized into open spinal dysraphisms (OSDs), in which there is exposure of abnormal nervous tissues through a skin defect, and closed spinal dysraphisms (CSD), in which there is a continuous skin coverage to the underlying malformation. Open spinal dysraphisms basically include myelomeningocele and other rare abnormalities such as myelocele and hemimyelo(meningo)cele. Closed spinal dysraphisms are further categorized based on the association with low-back subcutaneous masses. Closed spinal dysraphisms with mass are represented by lipomyelocele, lipomyelomeningocele, meningocele, and myelocystocele. Closed spinal dysraphisms without mass comprise simple dysraphic states (tight filum terminale, filar and intradural lipomas, persistent terminal ventricle, and dermal sinuses) and complex dysraphic states. The latter category further comprises defects of midline notochordal integration (basically represented by diastematomyelia) and defects of segmental notochordal formation (represented by caudal agenesis and spinal segmental dysgenesis). Magnetic resonance imaging (MRI) is the preferred modality for imaging these complex abnormalities. The use of the aforementioned classification scheme is greatly helpful to make the diagnosis. PMID:15081131
Rossi, Andrea; Biancheri, Roberta; Cama, Armando; Piatelli, Gianluca; Ravegnani, Marcello; Tortori-Donati, Paolo
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
Wilting, Jörg; Buttler, Kerstin; Rössler, Jochen; Norgall, Susanne; Schweigerer, Lothar; Weich, Herbert A; Papoutsi, Maria
We report on two families with co-occurrence of sirenomelia and caudal malformations. In the first family, the mother had undergone surgery for a short form of imperforate anus. Her first pregnancy was terminated because of bilateral renal agenesis with oligohydramnios. Her second pregnancy was interrupted because of sirenomelia. The second family was referred to us because of caudal malformation in their two children. The parents' spinal radiographs were normal. The first pregnancy resulted in a girl with imperforate anus, absence of S3-S5 and coccyx, abnormal pelvic floor, and an almost bifid anteriorly located bladder. The second pregnancy resulted in a baby girl with sirenomelia. No diabetes was present during the pregnancies in either of these two families. These families confirm the hypothesis that major genes are responsible for the embryogenesis of the caudal part of the embryo, with variable expression, as has been already described in sirenomelia mouse models (CYP26A1, BMP7/tsg). Molecular studies are underway in these families and in sporadic cases in our laboratory to explore the genetic basis of sirenomelia in humans. PMID:22522670
Gerard, Marion; Layet, Valérie; Costa, Teresa; Roumazeilles, Yves; Chenal, Pierre; Cailliez, Daniel; Gerard, Bénédicte
A study was undertaken in Jawaharlal Institute of Postgraduate Medical Education and Research, Pondicherry, South India, to understand the relation between congenital developmental disorders and consanguinity and also reproductive wastage and consanguinity. Four hundred children with existing congenital developmental disorders were studied with regard to their consanguineous parentage and compared with 1,000 randomly selected patients attending the paediatric outpatient department. There was a significantly higher prevalence of consanguinity in the study group (p < 0.001) and greater frequency in rural areas. The common types of consanguineous marriages were between first cousins (50.6%) and uncle and niece (42.4%). Frequency of consanguinity was not significantly related to religion and caste. The mean coefficient of inbreeding was 0.056. Consanguinity had no significant effect on average pregnancy rate and reproductive wastage. The frequency of consanguinity was significantly higher especially with autosomal recessive disorders (p < 0.001), congenital heart diseases (p < 0.001), multiple malformations (p < 0.001), neurological malformations (p < 0.005), chromosomal disorders (p < 0.01), genitourinary disorders (p < 0.02) and mental retardation-developmental disorders (p < 0.02). These observations stress the need for communicating the deleterious effects of inbreeding to the public through regular health education. PMID:7684587
Jain, V K; Nalini, P; Chandra, R; Srinivasan, S
Although genetic defects are the leading cause of central nervous system malformations including in the posterior fossa, specific malformative patterns should alert the clinician to consider rather a teratogenic etiology. We discuss the imaging features of 2 mid-hindbrain malformations consecutive to the intake of isotretinoin (Roaccuatane®; case 1) and misoprostol (Cytotec®; case 2) during pregnancy and review the pertinent literature. We correlate the morphological appearance of the mid-hindbrain malformation, as seen on high-resolution magnetic resonance imaging to possible drug-induced pathogenetical mechanisms. The recognition of characteristic imaging patterns enables diagnosis of and/or confirmation of suspected drug-induced hindbrain malformations. This has important medicolegal implications and also clinical significance to avoid unsuccessful and misleading genetic testing. PMID:23390117
Merlini, Laura; Fluss, Joël; Dhouib, Amira; Vargas, Maria I; Becker, Minerva
Vascular malformations are congenital lesions that are present at birth and do not regress. However, they often present later in life. They are subdivided into two categories: (1) slow- or low-flow and (2) fast- or high-flow malformations. Low-flow malformations contain combinations of capillary, venous, and lymphatic components. Venous malformations can occur anywhere in the body, but are most frequently seen in the head and neck (40%). These lesions present in a variety of ways, from a vague blue patch to a soft blue mass, which may be single isolated or may occur in multiple areas. Treatment depends on the type of lesion, the location, degree of involvement, and the clinical symptoms. Here we are report the imaging and histopathologic findings in a patient with multiple venous malformations affecting the left side of the face and trunk.
Chava, Venkateswara Rao; Shankar, Ashwini Naveen; Vemanna, Naveen Shankar; Cholleti, Sudheer Kumar
Lymphatic malformations are uncommon, benign and congenital malformations of the lymphatic system exhibiting lack of development of communication between the lymphatic and venous circulation. We report the unusual case of rapidly expanding giant lymphatic malformation of the torso, bilateral axillae and left upper extremity of a newborn. As the first-line treatment, aspiration and sclerotherapy with bleomycin were performed. The sclerotherapy failed to cause regression of the mass, and rapid expansion of the malformation necessitated surgery. Partial resection of the mass was performed. Clinical symptoms of respiratory distress resolved in the early postoperative period, and the patient became hemodynamically stable. However, intrathoracic invasion of the mass developed, leading to restriction of thoracic expansion, ending in death. In conclusion, surgical treatment of giant lymphatic malformations remains challenging. PMID:24292043
Cal??, Mert; Kona?, Ersoy; Takc?, ?ahin; Yurdakök, Murat; Tunçbilek, Gökhan
From a research sample of 138 corpses, divided into four subgroups of ambient storage temperature (0-5 degrees C, 6-10 degrees C, 11-15 degrees C and 16-23 degrees C) four linear regression formulae of actual versus estimated post-mortem interval were obtained ('interval' formulae) using a single outer ear temperature measurement on both sides. This method showed the best correlation coefficient among five other methods previously proposed for time of death determination (rectal temperature, vitreous K+, CSF K+, blood log NA+/K+ and log Cl-), however its results were less accurate than those obtained with a multivariate equation combining several of the above mentioned methods. Eventually an equation expressing time of death (TOD) as a function of outer ear temperature (OE T degrees) and ambient temperature was also established from the whole research sample ('global' formulae). On a different sample of 141 corpses the regression formulae ('interval' and 'global') for the outer ear temperature were compared to three methods based on a single rectal temperature measurement ('rule of thumb' 1 and 2, Henssge nomogram) and therefore useful at the scene; the results of all methods were compared within the four subgroups of ambient temperature as well as in three subgroups of different post-mortem interval lengths (< 7 h, < 10 h, < 15 h). In all cases the outer ear temperature formulae provided better results than the rectal temperature methods (especially Henssge nomogram and rule of thumb 1). Moreover they did not show any post-mortem plateau which was present in almost 30% of cases when rectal temperature was measured in corpses kept at ambient temperature above 15 degrees C. Our results show that outer ear temperature measurement is the method which provides the best simplicity/quality ratio and should therefore be proposed for use at the scene when conditions are similar to those of our experiment (within buildings). A software equipped thermometer is required in order to use in each case the appropriate formula and confidence interval. PMID:9022275
Baccino, E; De Saint Martin, L; Schuliar, Y; Guilloteau, P; Le Rhun, M; Morin, J F; Leglise, D; Amice, J
To rehabilitate most cases of conductive hearing loss closure of ear drum perforations and rebuilding of the ossicular chain can be performed. Due to the great number of biocompatible bone substitute materials available it is occasionally difficult for the surgeon to choose the most favorable substitute. Autogenous structures (ossicles, cortical bone, cartilage) and allogenous tissues (ossicles, cortical bone, cartilage, dentin) are possible bone replacement materials. Xenogenic tissue is currently not used in middle ear surgery. Ionomer cement is a hybrid material for replacement of bone but does not fit direct classification of the various classes of alloplastic materials in current use: that is, metals (gold, steel wire, platinum, titanium), plastics (polyethylene, polytetrafluorethylene) and ceramics (ceramic oxide, carbon, calcium-phosphate ceramic, vitreous ceramic). For restoration of the sound conductive apparatus preference is given to autogenous ossicles because cortical bone is resorbed and cartilage weakens over time. Most surgeons do not use allogenous tissue, because of the possible transmission of such infectious disease as immunodeficiency syndrome or Creutzfeldt-Jakob disease. Only dentin deserves special attention as a possible bone substitute in the middle ear because its form can be preserved during sterilization. Based on the observations available to date, it becomes apparent that titanium implants hold greater promise than gold. Form-stable synthetic materials are not generally recommended due to foreign body reactions which have been confirmed by many investigators. Ceramic materials (e.g. ceramic oxide, carbon, calcium-phosphate ceramic, glass ceramic) are well tolerated in the middle ear and have also proved to be useful over time. Hybrid bone substitute ionomer cement is easily workable and well integrated, showing a good functional outcome. For many years good results in otosclerosis surgery have been achieved with a prosthesis made of platinum-wire and Teflon. Short-term follow-up periods hold great promise with pistons made of gold. Autogenous ossicles, ionomer cement and recently titanium protheses--as far as usable--are employed by the author for reconstructing the middle ear. For the time being platinum-Teflon prostheses and gold are used in otosclerosis surgery. PMID:10197273
Five kinds of ear mushrooms are commercially available in Taiwan, including black, red, jin, snow, and silver ears. Methanolic extracts were prepared from these ear mushrooms, and their antioxidant properties were studied. For all methanolic extracts from ear mushrooms, the antioxidant activities in the 1,3-diethyl-2-thiobarbituric acid method were moderate (38.6 approximately 74.6%) at 1.0-5.0 mg/mL. Methanolic extracts from red, jin, and snow ears showed excellent antioxidant activities in the conjugated diene method at 5.0 mg/mL. At 5.0 mg/mL, reducing powers of methanolic extracts were in the descending order of snow > black approximately red approximately jin > silver ears. The scavenging effect of methanolic extracts from ear mushrooms on 1,1-diphenyl-2-picrylhydrazyl radicals was excellent except for that from silver ears. Ear mushroom extracts were not good scavengers for hydroxyl free radicals but were good chelators for ferrous ions. Naturally occurring antioxidants, including ascorbic acid, tocopherols, and total phenols, were found in the methanolic extracts. However, beta-carotene was not detected. Total antioxidant components were 15.69, 30.09, 27.83, 49.17, and 31.70 mg/g for black, red, jin, snow, and silver ears, respectively. PMID:11714344
Mau, J L; Chao, G R; Wu, K T
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 of associated malformations, which was more than one in two infants, emphasizes the need for a thorough investigation of infants with LRD.A routine screening for other malformations especially cardiovascular system, urogenital system, central nervous system, and digestive system may be considered in infants and in fetuses with LRD. PMID:20670696
Stoll, Claude; Alembik, Yves; Dott, Beatrice; Roth, Marie-Paule
CHARGE syndrome is a rare human disorder caused by mutations in the gene encoding chromodomain helicase DNA binding protein 7 (CHD7). Characteristics of CHARGE are varied and include developmental ear and hearing anomalies. Here we report a novel mouse model of CHD7 dysfunction, termed Looper. The Looper strain harbours a nonsense mutation (c.5690C>A, p.S1897X) within the Chd7 gene. Looper mice exhibit many of the clinical features of the human syndrome, consistent with previously reported CHARGE models, including growth retardation, facial asymmetry, vestibular defects, eye anomalies, hyperactivity, ossicle malformation, hearing loss and vestibular dysfunction. Looper mice display an otosclerosis-like fusion of the stapes footplate to the cochlear oval window and blepharoconjunctivitis but not coloboma. Looper mice are hyperactive and have vestibular dysfunction but do not display motor impairment.
Ogier, Jacqueline M.; Carpinelli, Marina R.; Arhatari, Benedicta D.; Symons, R. C. Andrew; Kile, Benjamin T.; Burt, Rachel A.
Purpose: To report and discuss four cases of ear pain which were treated successfully with manual therapy. Methods: Report of four cases. Results: Four patients with ear pain were referred for chiropractic consult. They were all treated with a combination of manual therapy and exercise with resolution of their ear symptoms. Conclusions: The mechanism of idiopathic ear pain that may be amenable to manual therapy is not fully known. Further research is needed to investigate the etiology of this disorder and to determine whether manual therapy and exercise are viable options in some patients with idiopathic ear pain. In the meantime, it may be advantageous for otolaryngologists to seek input from physicians skilled in assessment and treatment of the musculoskeletal system in cases ear pain for which an otolarygologic etiology cannot be found.
Murphy, Donald R.; Gay, Charles W.
Upper limb bud appears in the cervical region of the embryo during the fifth week of development. It is made of epithelia and underlying mesenchyme. Diffusible growth factors, expressed by the apical ectodermal ridge, direct the proximal-distal growth. Other factors are expressed by zone of polarizing activity and ectoderm. They induce together anterior-posterior growth and dorsal-ventral polarity of the limb bud. The development of axial skeleton pattern is controlled by transcription factors from the HOX family, which are expressed in a stripe along the proximal and distal edges of the limb bud. Embryologic mechanisms of the main hand malformations are described, as well as their known genetic or mechanical aetiologies. PMID:18838286
Perrin, J; Geoffroy-Siraudin, C; Metzler-Guillemain, C
Breeding experiments were conducted on cats with congenital taillessness, to test the dissemination pattern of taillessness in their offspring. Clinical evaluation, radiographic analysis of the vertebral column and histological studies of the digestive tract and central nervous tissue were conducted to determine the association of malformations of these systems in cats born with different degrees of taillessness noted in the rumpy and stumpy cats. The mode of transmission of the tailless (Manx) condition assumed to be through an autosomal dominant factor (M) was confirmed by this investigation. It is hypothesized that the problems associated with the tailless condition such as spina bifida, urinary and faecal incontinence and locomotor disturbances of the pelvic limbs may all be related to a disturbance affecting the development of the central nervous system in the early embryonic life. ImagesFigure 3.Figure 4.Figure 5.Figure 6.Figure 7.Figure 8.Figure 9.Figure 10.
DeForest, M. E.; Basrur, P. K.
Summary Embolization is recognized as an important adjunct in the treatment of cerebral arteriovenous malformations (AVMs). We reviewed our results of embolizations for AVMs and discussed procedure-related complications. Eleven complications were recorded in 68 consecutive patients (16%). Of these, four were technical problems including a glued catheter, inability to withdraw the catheter, vessel perforation by the microcatheter, and coil migration. Other complications included three cases of ischemic symptoms due to retrograde thrombosis, two cases of asymptomatic cerebral infarction, one case of asymptomatic small haemorrhage due to venous occlusion, and one case of post-embolization haemorrhage of unknown etiology. Our morbidity rate was 7%, mortality rate was 0%, and asymptomatic complication torospectively. Further improvements to endovascular techniques and devices are required.
Sugiu, K.; Tokunaga, K.; Sasahara, W.; Watanabe, K.; Nishida, A.; Ono, S.; Nishio, S.; Date, I.; Rufenacht, D. A.
We report the first familial cases with two different types of posterior fossa cystic malformation and a leukodystrophic-like aspect on cerebral magnetic resonance imaging (MRI). The girl and her brother had severe encephalopathy, marked hypotonia, absent deep tendon reflexes, macrocrania, gigantism, and dysmorphic face and extremities. The girl had generalized seizures. The boy had unilateral cataract and bilateral optic atrophy. The parents were first cousins, suggesting autosomal recessive transmission. MRI showed Dandy-Walker variant in the girl, with cerebellar vermis hypoplasia and expansion of the cisterna magna, which communicated with the fourth ventricle. Her brother had mega cisterna magna communicating with the fourth ventricle and a normal cerebellum. The 2 children had abnormally high signal in the supratentorial white matter. Visual and auditory evoked potentials revealed prolonged latencies. Motor and sensory conduction velocities were normal. Muscle and nerve biopsies were normal. Metabolic exploration demonstrated no abnormality. PMID:9258968
Humbertclaude, V T; Coubes, P A; Leboucq, N; Echenne, B B
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.
Papagiannis, J; Apostolopoulou, S; Sarris, GE; Rammos, S
Although ears capable of detecting airborne sound have arisen repeatedly and independently in different species, most animals that are capable of hearing have a pair of ears. We review the advantages that arise from having two ears and discuss recent research on the similarities and differences in the binaural processing strategies adopted by birds and mammals. We also ask how these different adaptations for binaural and spatial hearing might inform and inspire the development of techniques for future auditory prosthetic devices.
Schnupp, Jan W H; Carr, Catherine E
In the past few years, the increasing accessibility of next-generation sequencing technology has translated to a number of significant advances in our understanding of brain malformations. Genes causing brain malformations, previously intractable due to their complex presentation, rarity, sporadic occurrence, or molecular mechanism, are being identified at an unprecedented rate and are revealing important insights into central nervous system development. Recent discoveries highlight new associations of biological processes with human disease including the PI3K-AKT-mTOR pathway in brain overgrowth syndromes, the trafficking of cellular proteins in microcephaly-capillary malformation syndrome, and the role of the exosome in the etiology of pontocerebellar hypoplasia. Several other gene discoveries expand our understanding of the role of mitosis in the primary microcephaly syndromes and post-translational modification of dystroglycan in lissencephaly. Insights into polymicrogyria and heterotopias show us that these 2 malformations are complex in their etiology, while recent work in holoprosencephaly and Dandy-Walker malformation suggest that, at least in some instances, the development of these malformations requires "multiple-hits" in the sonic hedgehog pathway. The discovery of additional genes for primary microcephaly, pontocerebellar hypoplasia, and spinocerebellar ataxia continue to impress upon us the significant degree of genetic heterogeneity associated with many brain malformations. It is becoming increasingly evident that next-generation sequencing is emerging as a tool to facilitate rapid and cost-effective molecular diagnoses that will be translated into routine clinical care for these rare conditions in the near future. PMID:23793931
Dyment, David A; Sawyer, Sarah L; Chardon, Jodi Warman; Boycott, Kym M
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.
Millen, Kathleen J.; Dobyns, William B.
The Chiari type 1 malformation is common. Unlike the Chiari type 2 and 3 malformations, it may remain latent for a long time, becoming symptomatic only in adulthood. The introduction of MRI has resulted in an increased number of diagnoses of this malformation in pediatric patients. It appears to be related to underdevelopment of the posterior cranial fossa. It must be differentiated from acquired tonsillar herniation, particularly when herniation results from intracranial hypotension; these cases are sometimes reported as acquired Chiari I malformation with spontaneous resolution. Tonsillar ectopia may cause symptoms by its direct effect on any or all of the medulla and the cerebellar and upper spinal cord. The most suggestive of the oculomotor disturbances is oscillopsia with downbeat nystagmus. Dysphonia and dysphagia are common. Potentially serious autonomic disturbances are also frequent: sleep apnea, respiratory failure, syncope and even sudden death. Another risk is syrinx formation, resulting from obstruction of CSF circulation in the cisterna magna. Syringomyelia is detected in 32 to 74% of patients with Chiari I malformation. Treatment is surgical. Posterior fossa decompression is achieved by suboccipital craniectomy combined with laminectomy of the upper cervical segments. Surgical intervention is indicated when the malformation is symptomatic and there is no doubt that it is the cause of the symptoms. When a Chiari I malformation is identified fortuitously on MRI, long-term monitoring is essential. The risk of developing symptoms increases over time. Patients should be advised not to participate in contact sports. PMID:16327707
Masson, C; Colombani, J-M
We report a surgical case of tectal cavernous malformation presented by hydrocephalus. This 30-year-old man suffered from headache and nausea due to an obstructive hydrocephalus caused by a cavernous malformation in the tectum. Magnetic resonance (MR) images on admission showed a small lesion depicted as isointensity on the T1-weighted image, hyperintensity on the T2-weighted image, and accompanied with peripheral low-signal intensity rim, suggesting a tectal cavernous malformation. After admission, ventricular drainage was performed and the patient's symptoms improved immediately. He underwent a ventriculoperitoneal shunt ten days after the ventricular drainage. Postoperative CT scan showed an enlargement of the tectal mass with hemorrhagic change, but there was no deterioration in his neurological status. Cerebral angiography demonstrated no vascular stain or venous malformation. Microsurgical removal of the tectal mass was then performed via an occipital transtentorial approach. Histopathology proved a cavernous malformation and MR images at follow-up demonstrated total excision. Postoperatively, an upward gaze palsy appeared, but gradually improved within a month. Management strategy of brain stem cavernous malformation is controversial. Occasionally, brain stem hemorrhage may become critical. Therefore, we recommend aggressive surgical extirpation of symptomatic brain stem cavernous malformation, if it is accessible, if hemorrhage is present, and if the patient's condition permits it. PMID:11806112
Fujiwara, Satoshi; Ohta, Masahiro; Takeda, Tetsuji; Kohno, Kanehisa; Takechi, Akihiko; Kawada, Yasuchika; Shinohara, Naoki; Sasaki, Ushio
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
Källén, Bengt; Norstedt Wikner, Birgitta
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.
Barwad, Parag; Ramakrishnan, Sivasubramanian; Kothari, Shyam S; Saxena, Anita; Gupta, Saurabh K; Juneja, Rajnish; Gulati, Gurpreet Singh; Jagia, Priya; Sharma, Sanjiv
Transumbilical surgical procedures have been reported to be a feasible, safe, and cosmetically excellent procedure for various pediatric surgical diseases. Umbilical loop colostomies have previously been created in patients with Hirschsprung's disease, but not in patients with anorectal malformations (ARMs). We assessed the feasibility and cosmetic results of temporal umbilical loop colostomy (TULC) in patients with ARMs. A circumferential skin incision was made at the base of the umbilical cord under general anesthesia. The skin, subcutaneous tissue, and fascia were cored out vertically, and the umbilical vessels and urachal remnant were individually ligated apart from the opening in the fascia. A loop colostomy was created in double-barreled fashion with a high chimney more than 2 cm above the level of the skin. The final size of the opening in the skin and fascia was modified according to the size of the bowel. The bowel wall was fixed separately to the peritoneum and fascia with interrupted 5-0 absorbable sutures. The bowel was opened longitudinally and everted without suturing to the skin. The loop was divided 7 days postoperatively, and diversion of the oral bowel was completed. The colostomy was closed 2-3 months after posterior saggital anorectoplasty through a peristomal skin incision followed by end-to-end anastomosis. Final wound closure was performed in a semi-opened fashion to create a deep umbilicus. TULCs were successfully created in seven infants with rectourethral bulbar fistula or rectovestibular fistula. Postoperative complications included mucosal prolapse in one case. No wound infection or spontaneous umbilical ring narrowing was observed. Skin problems were minimal, and stoma care could easily be performed by attaching stoma bag. Healing of umbilical wounds after TULC closure was excellent. The umbilicus may be an alternative stoma site for temporary loop colostomy in infants with intermediate-type anorectal malformations, who undergo radical anorectoplasty via a non-abdominal approach. PMID:23001137
Hamada, Yoshinori; Takada, Kohei; Nakamura, Yusuke; Sato, Masahito; Kwon, A-Hon
Background Congenital malformations are present in approximately 2–3% of liveborn babies and 20% of stillborn fetuses. The mechanisms underlying the majority of sporadic and isolated congenital malformations are poorly understood, although it is hypothesized that the accumulation of rare genetic, genomic and epigenetic variants converge to deregulate developmental networks. Methodology/Principal Findings We selected samples from 95 fetuses with congenital malformations not ascribed to a specific syndrome (68 with isolated malformations, 27 with multiple malformations). Karyotyping and Multiplex Ligation-dependent Probe Amplification (MLPA) discarded recurrent genomic and cytogenetic rearrangements. DNA extracted from the affected tissue (46%) or from lung or liver (54%) was analyzed by molecular karyotyping. Validations and inheritance were obtained by MLPA. We identified 22 rare copy number variants (CNV) [>100 kb, either absent (n?=?7) or very uncommon (n?=?15, <1/2,000) in the control population] in 20/95 fetuses with congenital malformations (21%), including 11 deletions and 11 duplications. One of the 9 tested rearrangements was de novo while the remaining were inherited from a healthy parent. The highest frequency was observed in fetuses with heart hypoplasia (8/17, 62.5%), with two events previously related with the phenotype. Double events hitting candidate genes were detected in two samples with brain malformations. Globally, the burden of deletions was significantly higher in fetuses with malformations compared to controls. Conclusions/Significance Our data reveal a significant contribution of rare deletion-type CNV, mostly inherited but also de novo, to human congenital malformations, especially heart hypoplasia, and reinforce the hypothesis of a multifactorial etiology in most cases.
Serra-Juhe, Clara; Rodriguez-Santiago, Benjamin; Cusco, Ivon; Vendrell, Teresa; Camats, Nuria; Toran, Nuria; Perez-Jurado, Luis A.
Cholesterol granuloma (CG) is a histologic description of foreign body giant cell formation toward cholesterol crystals. The majority of temporal bone CG is unilateral and most common in the petrous apex. Middle ear CG is usually the result of underlying ear diseases. Primary middle ear CG is very rare. Most reported CG has not been associated with familial hypercholesterolemia (FH). FH, an autosomal dominant disorder, manifests as high levels of serum cholesterol and low density lipoprotein (LDL) cholesterol. We report a rare case of FH and bilateral aggressive primary middle ear CG. This publication has been approved by the IRB, Hospital Alor Setar. PMID:18503863
Masaany, Mansor; Siti, Hashim Sabzah; Nurliza, Idris; Mazita, Ami
To achieve mass customization and collaborative product design, human factors and ergonomics should play a key development role. The purpose of this study was to provide product designers with the anthropometic dimensions of outer ears for different demographic data, including gender and age. The second purpose was to compare the dimensions of various ear-related products (i.e., earphone, bluetooth earphone and ear-cup earphone) with the anthropometic database and recommend appropriate solutions for design. Two hundred subjects aged 20-59 was selected for this study and divided into four age stratifications. Further, three different dimensions of the outer ear (i.e., the earhole length, the ear connection length and the length of the pinna) were measured by superimposed grid photographic technique. The analysis of variance (ANOVA) was used to investigate the effects of gender, and age on ear dimensions. The results showed that all ear dimensions had significant gender effects. A comparison between the anthropometric dimensions and those of current products revealed that most current ear-related products need to be redesigned using anthropometric data. The shapes of earhole and pinna are not circular. Consequently, ear products need to be elongated so that users may feel more comfortably and not have the product slip off easily. PMID:17374520
Extracranial meningioma with extension into a middle ear is very uncommon. A 74-year-old female was admitted to our hospital with right ear bleeding when removing earwax. In this case, magnetic resonance imaging, computed tomography, her past history and operative findings would consider as infiltrative growth from the right sphenoid ridge meningioma to the right middle ear via the right petrous pyramid and bilateral optic nerve. She underwent only partial extirpation with decompression for optic nerve, rather than total extirpation including middle ear and temporal bone, due to wide invasion of the middle cranial fossa and caversinus sinus.
Kusunoki, Takeshi; Ikeda, Katsuhisa; Miyashita, Mie
Extracranial meningioma with extension into a middle ear is very uncommon. A 74-year-old female was admitted to our hospital with right ear bleeding when removing earwax. In this case, magnetic resonance imaging, computed tomography, her past history and operative findings would consider as infiltrative growth from the right sphenoid ridge meningioma to the right middle ear via the right petrous pyramid and bilateral optic nerve. She underwent only partial extirpation with decompression for optic nerve, rather than total extirpation including middle ear and temporal bone, due to wide invasion of the middle cranial fossa and caversinus sinus. PMID:24765466
Kusunoki, Takeshi; Ikeda, Katsuhisa; Miyashita, Mie
Vibrations of the middle ear ossicles are easily measured by means of laser vibrometry. However, exposing the ossicles requires the removal of the eardrum, with the result that the ossicles can no longer be stimulated acoustically. To overcome this we devised a new set up in which the ossicles can be driven magnetically. After measuring the response of the eardrum to an acoustic signal, we then remove the eardrum and attach a small magnet to the exposed manubrium (the part of the first auditory ossicle, the malleus, which is normally attached to the eardrum). An electromagnetic excitation coil is then used to drive the magnet, and the output to the coil adjusted until the vibration of the manubrium, as measured by the vibrometer, matches that measured in response to the acoustic signal. Such a set-up has uses in research on middle ear mechanics, such as the measurement of non-linearities in their response, as well as applications in the diagnosis of middle ear conditions such as the fixation of the ossicles by otosclerosis, or in chronic otitis media. We describe our set up in which the vibrometer unit is attached to a surgical microscope, offering accurate positioning of the laser beam. We discuss the viability of our method and its future potential by presenting some measurements on artificially fixated ears.
Peacock, John; Unge, Magnus Von; Dirckx, Joris
Twenty-five out of 205 (i.e. 12%) babies born to diabetic mothers in the Birmingham Maternity Hospital in the period 1969-1974 were malformed as against 6% in a control group. The incidence was highest in the group where mothers were on insulin at the time of conception (17 out of 117, i.e. 15%). No correlation was observed between major malformation in this group and age of onset or duration of the diabetes, progressive vascular complications, maternal age, or parity. Cardiovascular malformations were over-represented.
Day, R E; Insley, J
Cavernous hemangiomas are rare congenital venous malformations having propensity for the head and neck. These venous malformations, especially the large and intraoral ones, may cause severe symptoms requiring aggressive treatment. Today, the main treatment is based on sclerotherapy, associated or no with surgery. We report on a patient presenting an enormous venous malformation of the face and tongue, which was treated successfully in our department by embolization, sclerotherapy and maxillo-facial surgery, with a special focus on Surgiflo in our technique. PMID:20399053
Slaba, S; Braidy, C; Sader, R B; Hokayem, N; Nassar, J
The diagonal ear-lobe crease, detectable especially after the age of 40, is still accepted as a sign of coronary heart disease risk. In the literature some authors report an association between anxiety and coronary heart disease. In our work a group of 143 patients with ear-lobe crease showed - in both sexes and in all examined decades (5th, 6th, 7th) - higher levels of anxiety than in the control group. The possible significance of the crease has been considered on the grounds of present knowledge of ear-acupuncture and the somatotopic mapping of CNS on the ear-lobe. PMID:2575346
Romoli, M; Tordini, G; Giommi, A
Summary Background Middle ear surgery techniques can improve hearing destroyed by disease, but results of treatment are difficult to predict. Therefore, researchers use a Laser Doppler Vibrometer to measure vibrations of human middle ear ossicles. Material/Methods Measurements of ossicular chain vibrations are performed on fresh human temporal bone specimens using Laser Doppler Vibrometer. Vibrations of stapes are recorded in 3 cases: 1) for intact ossicular chain, 2) when incus long process is removed, and 3) after long process reconstruction with bone cement. A typical analysis of transfer function is completed by other methods applied in dynamics. Results Measurements and analysis of stapes vibrations in case of intact and damaged ossicular chain show regular and irregular behavior which can be recognize with the help of phase portraits, recurrence plots, correlation dimension, and Hurst and Lyapunov exponents. The long process reconstruction with bone cement gives good results in improving hearing. Conclusions Recurrence plots, and Lyapunov and Hurst exponents used in the study complete information obtained from transfer function and can be employed to enrich the classical approach to ossicular chain vibrations.
Rusinek, Rafal; Szymanski, Marcin; Warminski, Jerzy; Zadrozniak, Marek; Morshed, Kamal
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
Chung, Hyeyoung A; Medina-Ruiz, Sofia; Harland, Richard M
The purpose of the study was to describe the magnitude of the selected sports medicine problems (i.e. cauliflower ear and skin infections) among wrestlers in Tehran. A number of 411 wrestlers were randomly selected from wrestling clubs in Tehran employing cluster sample setting method. The participants were interviewed using a specially designed and validated questionnaire. Nearly half of the participants (44%) had "cauliflower ears". Only 23% of these participants had received any kind of treatment for their acute ear haematomas that are known to result in "cauliflower ears". The prevalence of reported hearing loss among participants with cauliflower ears (11.5%, 95%CI: 6.9 to 16.2) was significantly more than this prevalence among those participants without cauliflower ears (1.8%, 95%CI: 0.1 to 3.5) (p < 0.05). More than half of the participants (52%) had skin infection diagnosed by a physician during the previous year. This study has identified evidence of an increase in hearing loss as a possible side effect of either cauliflower ear or ear injury in wrestling in Iran. There has been an outbreak of ringworm and there is a significant potential for an outbreak of impetigo among wrestlers in Tehran. Key pointsSkin infections are prevalent among wrestlers in Tehran.Commonly wrestlers in Tehran continue to carry out wrestling training while affected by skin infections.Cauliflower ear "is common among wrestlers in Tehran.More research is needed to investigate hearing loss as a possible side effect of either cauliflower ear or ear injury in wrestling in Iran. PMID:24198702
Kordi, Ramin; Mansournai, Mohammad Ali; Nourian, Roh Allah; Wallace, W Angus
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 impediment imposed by insufficient gene annotation. These findings heighten the relevance of Xenopus as a model organism for genetic investigations of inner ear organogenesis, morphogenesis, and regeneration.
In the vertebrate inner ear, the ability to detect angular head movements lies in the three semicircular canals and their sensory tissues, the cristae. The molecular mechanisms underlying the formation of the three canals are largely unknown. Malformations of this vestibular apparatus found in zebrafish and mice usually involve both canals and cristae. Although there are examples of mutants with only defective canals, few mutants have normal canals without some prior sensory tissue specification, suggesting that the sensory tissues, cristae, might induce the formation of their non-sensory components, the semicircular canals. We fate-mapped the vertical canal pouch in chicken that gives rise to the anterior and posterior canals, using a fluorescent, lipophilic dye (DiI), and identified a canal genesis zone adjacent to each prospective crista that corresponds to the Bone morphogenetic protein 2 (Bmp2)-positive domain in the canal pouch. Using retroviruses or beads to increase Fibroblast Growth Factors (FGFs) for gain-of-function and beads soaked with the FGF inhibitor SU5402 for loss-of-function experiments, we show that FGFs in the crista promote canal development by upregulating Bmp2. We postulate that FGFs in the cristae induce a canal genesis zone by inducing/upregulating Bmp2 expression. Ectopic FGF treatments convert some of the cells in the canal pouch from the prospective common crus to a canal-like fate. Thus, we provide the first molecular evidence whereby sensory organs direct the development of the associated non-sensory components, the semicircular canals, in vertebrate inner ears. PMID:15280215
Chang, Weise; Brigande, John V; Fekete, Donna M; Wu, Doris K
Introduction Mesenteric lymphatic malformations are rare, benign tumors that are most commonly found in children. The presentation of these tumors is variable and may either be innocuous or life threatening. It has been suggested that mesenteric lymphatic malformations are congenital; however, there is evidence that their growth may be stimulated by local trauma. Case presentation We describe the first case of a mesenteric lymphatic malformation associated with acute appendicitis in a 13-year-old Caucasian boy. The patient is well six months after surgical excision of the tumor. Conclusion The reader should be aware that growth and/or development of mesenteric lymphatic malformations may be associated with trauma and other pro-inflammatory processes.
When embryological development of the internal and/or external genitalia is disrupted, the patient presents with a disorder of sex development (DSD) in the neonatal period or sometime later in life. Some of these patients have other, nongenital malformations, which makes their overall management more complex than if they just had a DSD. This Review summarises these malformation syndromes and discusses the recent research into their aetiology. The genetic causes of these malformation syndromes, when they are known, will also be described. Many specific genetic mutations are now known in malformation syndromes with a defect in hormonal function. By contrast, the genetic causes remain unknown in many nonhormonal morphological anomalies that affect the genitalia. PMID:24913517
Hutson, John M; Grover, Sonia R; O'Connell, Michele; Pennell, Samuel D
Macrocephaly-capillary malformation (OMIM 602501) is a rare overgrowth and asymmetry syndrome. Cardiac arrhythmias were reported to occur in few patients. We present a case in which fetal arrhythmia was the presenting symptom of the syndrome. PMID:22329570
Kuint, Jacob; Globus, Omer; Ben Simon, Guy J; Greenberger, Shoshana
Mice used to model induction of cleft palate and kidney malformations in offspring following maternal treatment with TCDD, were dosed on gestation day with hexachlorobiphenyl (HCB) and/or with tetrachlorodibenzo-p-dioxin (TCDD) to investigate the potentia...
R. E. Morrissey M. W. Harris J. J. Diliberto L. S. Birnbaum
Summary Cerebral arteriovenous malformations (C-AVMs) are rarely diagnosed in utero. Most prenatal imaging of intracranial vascular malformations relates to Vein of Galen aneurysmal malformations (VGAMs) or Dural Arteriovenous Malformations (D-AVMs). We report a case of a fetal pial AVF with multiple fistulae and venous pouches, which appeared as an anechoic lesion on the prenatal ultrasound scan. The patient was asymptomatic with normal postnatal growth. No haemodynmaic disturbance was evident. Postnatal Computed tomography (CT), Magnetic Resonance Imaging (MRI) and catheter Digital Subtraction Angiography (DSA) confirmed the presence of a pial AVF. The angiographic findings and family history of nose bleeds suggests the diagnosis of Hereditary Hemorrhagic Telangiectasia. The largest AVF was embolized with tissue adhesive; the residual AVF subsequently removed by surgical excision.
Auyeung, K.M.; Laughlin, S.; TerBrugge, K.G.
Background\\/purposeMany reports have addressed the feasibility and safety of using robotic surgery in children. To our knowledge, no published report has described the use of a surgical robot in the repair of anorectal malformations (ARMs).
Abdulrahman AlBassam; Abdulmonem Gado; Mohammed Saquib Mallick; Mohammed AlNaami; Weaam Al-shenawy
Vascular malformations and tumors comprise a broad spectrum of lesions that can cause significant morbidity and even mortality\\u000a in children and adults. Classification of vascular malformations into high flow and low flow has significant impact on management\\u000a since the main treatment of the former is transarterial embolization and the later percutaneous sclerotherapy. Magnetic resonance\\u000a imaging (MRI) is a noninvasive effective
Hicham Moukaddam; Jeffrey Pollak; Andrew H. Haims
Two patients (11 and 23 months old, respectively) had successful transcatheter occlusion of congenital arterio-venous or veno-venous malformations using detachable silicone balloons. Patient 1 with a cervicofacial hemangioma had selective embolization of the feeding artery with two balloons. Patient 2, with a veno-venous malformation between a systemic vein and pulmonary vein also had selective embolization of the lesion with two balloons. Follow-up examinations confirm a successful outcome in both cases. PMID:8894781
Sreeram, N; Miller, P; John, P
A 31-year-old woman was referred to our hospital because of gross hematuria. Radiologic examinations with computed tomography and magnetic resonance imaging revealed renal arteriovenous malformation in the right kidney and an entrapped retroaortic left renal vein. Because the patient was free of hematuria, she refused additional treatment for economic reasons. Renal arteriovenous malformation associated with the posterior nutcracker phenomenon is a very rare condition. PMID:23031411
Qin, Jie; Zheng, Xiang-Yi; Jiang, Hai
A close relation between different forms of dysganglionosis such as intestinal neuronal dysplasia (IND) type B and aganglionosis\\u000a has been established. No systematic analysis of other malformations and diseases accompanying IND has been made as yet. Congenital\\u000a malformations and perinatal morbidity were analyzed in 109 patients with IND seen at the Department of Pediatric Surgery in\\u000a Mainz from 1977 to
S. Berger; P. Ziebell; M. Kessler; S. Hofmann-von Kap-herr
Lymphatic malformations of the head and neck, also known as lymphangiomas or cystic hygromas, are a diverse group of lesions. Lymphangiomas represent benign hamartomatous tumors of lymphatic vessels with a marked predilection for the head, neck and oral cavity. These lesions, like most of the swellings occurring in the neck, frequently pose a dilemma in diagnosis and treatment. This is a case report of a lymphatic malformation which presented as a painless mass in the lower border of mandible.
Ramashankar; Prabhakar, Chandan; Shah, Nishit Kumar; Giraddi, Girish
The possibility of preventing or reducing the prevalence of human congenital malformations is discussed in the light of current knowledge about their aetiology. The original data presented are derived from an epidemiological study of all the infants (92,982) born in the three years 1964-6 to women resident in a defined area of South Wales and all the congenital malformations (3,242) discovered in those infants by the second anniversary of their birth.
Lowe, C. R.
PURPOSE: To illustrate that orbital venous-lymphatic malformations (lymphangiomas) may rarely simulate cavernous hemangiomas.METHODS: Retrospective case review.RESULTS: Five patients were identified from a series of 85 patients with venous-lymphatic malformations. The age range was 21 to 69 years, and all cases presented with a history of slowly progressive or long-standing proptosis. Computerized tomography revealed relatively homogeneous intraconal masses that were well
Dinesh Selva; Diego Strianese; Giulio Bonavolonta; Jack Rootman
This recently recognised entity (OMIM # 602501) (OMIM 2006) is characterised by the association of macrocephaly (megalencephaly),\\u000a capillary malformation of the cutis marmorata telangectatica congenita type, cavernous haemangioma, asymmetric growth pattern,\\u000a central nervous system malformations, and neurological abnormalities (Clayton-Smith et al. 1997, Gerritsen et al. 2000, Moore et al. 1997, Lapunzina et al. 2004). Despite extensive investigation of many of
Pablo Lapunzina; Jill Clayton-Smith
...Ear, nose, and throat synthetic polymer material. 874.3620 Section...Ear, nose, and throat synthetic polymer material. (a) Identification. Ear, nose, and throat synthetic polymer material is a device...
...Ear, nose, and throat synthetic polymer material. 874.3620 Section...Ear, nose, and throat synthetic polymer material. (a) Identification. Ear, nose, and throat synthetic polymer material is a device...
IN the previous issue, the first of two articles on feline ear, nose and throat disease concentrated on diseases of the nose (In Practice, April 1995, pp 154-161). Here, in the second article, diseases of the throat and ear are covered.
Kim Willoughby; Alison Coutts
Although acoustics of the external ear has been studied extensively for auralization and hearing aids, the acoustic behavior with insert headphones is not as well known. Our research focused on the eects of outer ear physical dimensions, particularly to sound pressure at the eardrum. The main parameter was the length of the canal, but eardrum's damping of resonances was also
Marko Hiipakka; Miikka Tikander; Matti Karjalainen
This paper presents a description and comparison of the Nazlet Khater 2 (NK 2) inner ear structures. This specimen is the only complete modern human skeleton from the earliest Late Stone Age in Africa. The interest in the inner ear structures lies with their strong genetic component. The morphology and biometrical characteristics of the NK 2 bony labyrinth are described
L. Bouchneb; I. Crevecoeur
The efficient and systematic development of a middle ear prosthesis necessitates the use of computer models for the prosthesis itself and the reconstructed middle ear. The structure and parameters of the computer model have to be verified by specific measurements of the implant and the reconstructed ear. To obtain a realistic model of a reconstructed ear, three steps of modeling and measurements have been carried out. To get a first approach of the coupling elements a mechanical test rig representing a simplified reconstructed middle ear was built. The velocity of the stapedial footplate was measured with a laser Doppler vibrometer. The corresponding computer model was formulated, and the respective parameters were determined using the measured dynamical transfer functions. In the second step, a prosthesis was implanted into a human temporal bone without inner ear. Exciting this system with noise, the velocity of the stapes footplate was measured with the laser Doppler vibrometer. Based on the multibody system approach, a mechanical computer model was generated to describe the spatial motions of the reconstructed ossicular chain. Varying some significant parameters, simulations have been carried out. To describe the dynamical behavior of the system consisting of middle and inner ear, the computer model used in the second step has been enlarged by adding a simplified structure of the inner ear. The results were compared with in situ measurements taken from living humans. PMID:10187927
Eiber, A; Freitag, H G; Burkhardt, C; Hemmert, W; Maassen, M; Rodriguez Jorge, J; Zenner, H P
...4140 Ear, nose, and throat bur. (a) Identification. An ear, nose, and throat bur is a device consisting of...nose, or throat area. The bur consists of a carbide cutting tip on a metal shank or a coating of diamond on a metal shank. The...
...4140 Ear, nose, and throat bur. (a) Identification. An ear, nose, and throat bur is a device consisting of...nose, or throat area. The bur consists of a carbide cutting tip on a metal shank or a coating of diamond on a metal shank. The...
The effects of direct variation in static middle ear pressure were studied in the acute guinea pig. Pressure differences of from - 500 to + 500 mm of H2O were examined. Pure tones were delivered to the test ear in a closed system and the sound pressure le...
D. L. McPherson J. M. Miller A. Axelsson
Researchers may place a catheter in the ear vessel of a rabbit for a short period of time in order to collect repeated blood samples without extensive restraint of the animal. Maintaining such a catheter in a healthy rabbit can be challenging, as the animal may scratch at the ear, removing the catheter or forming a large hematoma that might
Rekha N. Orchard; Aphroditi J. Antonopoulos; Donald L. Hamilton; Francesca Sampieri
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
Zhongyu Li; L. Andrew Koman; Beth P. Smith; E. Stanley Gordon; Thomas L. Smith
The middle ear is a composite organ formed from all three germ layers and the neural crest. It provides the link between the outside world and the inner ear, where sound is transduced and routed to the brain for processing. Extensive classical and modern studies have described the complex morphology and origin of the middle ear. Non-mammalian vertebrates have a single ossicle, the columella. Mammals have three functionally equivalent ossicles, designated the malleus, incus and stapes. In this review, I focus on the role of genes known to function in the middle ear. Genetic studies are beginning to unravel the induction and patterning of the multiple middle ear elements including the tympanum, skeletal elements, the air-filled cavity, and the insertion point into the inner ear oval window. Future studies that elucidate the integrated spatio-temporal signaling mechanisms required to pattern the middle ear organ system are needed. The longer-term translational benefits of understanding normal and abnormal ear development will have a direct impact on human health outcomes.
Chapman, Susan Caroline
Patch testing of 40 patients with chronic inflammatory ear disease demonstrated medicament allergic contact dermatitis in 35%. The most frequent sensitizers were neomycin, framycetin, clioquinol and gentamicin. Although allergic contact dermatitis to dewaxing ear drops was unusual, irritant reactions were common.
Holmes, R C; Johns, A N; Wilkinson, J D; Black, M M; Rycroft, R J
This study established a normal middle ear resonance estimated from sweep frequency tympanometry, established normal equivalent ear canal volume, static acoustic admittance, and tympanometric peak pressure at 226 hertz in 90 children with normal hearing and 68 children with deafness, ages 6-15. No significant intergroup or age differences were…
Hanks, Wendy D.; Rose, Katie J.
Pressure damage to the middle ear in 74 cases of pressure trauma was studied. It was found that pressure trauma can be most serious with respect to reducing work capability of personnel in flight, and that pressure trauma of the middle ear developed with acute rhinitis.
Medvezhova, R. A.
Declines in amphibian populations, and amphibians with gross malformations, have prompted concern regarding the biological status of many anuran species. A survey of bullfrogs, Rana catesbeiana, and green frogs, Rana clamitans, conducted in central and southern New Hampshire showed malformed frogs at 81% of the sites sampled (13 of 16 sites). Brain gonadotropin-releasing hormone (GnRH) and the synthesis of androgens and estradiol, hormones essential to reproductive processes, were measured from limb-malformed and normal (no limb malformation) frogs. Normal frogs had significantly higher concentrations (nearly 3-fold) of in vitro produced androgens and of brain GnRH than malformed frogs. Because most malformations are thought to occur during development, we propose that environmental factors or endocrine-disrupting chemicals that may cause developmental abnormalities also act during early development to ultimately cause abnormally reduced GnRH and androgen production in adult frogs. The consequences of reduced GnRH and androgens on anuran reproductive behavior and population dynamics are unknown but certainly may be profound and warrant further research.
Sower, S A; Reed, K L; Babbitt, K J
Malformations of cortical development are disorders of altered brain anatomy and architecture that arise from abnormalities in the usual processes of cerebral cortical development. Although they often lead to epilepsy, cognitive delay, and motor impairment, little is known about their effect on sleep. Since malformations may anatomically or functionally disrupt the cerebral circuits that mediate sleep spindles, we hypothesized that these disorders would be associated with abnormal spindle characteristics. We analyzed the density, maximum frequency, laterality and distribution of sleep spindles seen in routine and long-term electroencephalographic recordings performed in ten brain malformation subjects and ten matched controls. There were no significant differences in spindle density or maximum frequency between the two groups, but malformation subjects had a significantly lower proportion of bilateral spindles and a significantly higher proportion of anterior and diffuse spindles compared to controls. In addition, unilateral malformations appeared to be associated with a skewing of unilateral spindles toward the contralateral side. Our findings suggest that brain malformations disrupt the thalamocortical circuits responsible for sleep spindle generation, and support the need for further studies on the relationships between cortical maldevelopment and sleep.
Selvitelli, Megan F.; Krishnamurthy, Kaarkuzhali B.; Herzog, Andrew G.; Schomer, Donald L.; Chang, Bernard S.
In recent years, the segmentation, i.e. the identification, of ear structures in video-otoscopy, computerised tomography (CT) and magnetic resonance (MR) image data, has gained significant importance in the medical imaging area, particularly those in CT and MR imaging. Segmentation is the fundamental step of any automated technique for supporting the medical diagnosis and, in particular, in biomechanics studies, for building realistic geometric models of ear structures. In this paper, a review of the algorithms used in ear segmentation is presented. The review includes an introduction to the usually biomechanical modelling approaches and also to the common imaging modalities. Afterwards, several segmentation algorithms for ear image data are described, and their specificities and difficulties as well as their advantages and disadvantages are identified and analysed using experimental examples. Finally, the conclusions are presented as well as a discussion about possible trends for future research concerning the ear segmentation. PMID:22994296
Ferreira, Ana; Gentil, Fernanda; Tavares, João Manuel R S
As a new biometrics authentication technology, ear recognition remains many unresolved problems, one of them is the occlusion problem. This paper deals with ear recognition with partially occluded ear images. Firstly, the whole 2D image is separated to sub-windows. Then, Neighborhood Preserving Embedding is used for feature extraction on each subwindow, and we select the most discriminative sub-windows according to the recognition rate. Thirdly, a multi-matcher fusion approach is used for recognition with partially occluded images. Experiments on the USTB ear image database have illustrated that using only few sub-window can represent the most meaningful region of the ear, and the multimatcher model gets higher recognition rate than using the whole image for recognition.
Yuan, Li; Wang, Zhen-Hua; Mu, Zhi-Chun
The effects of early right ear deafness on lateralisation of auditory language functions are not fully known. A 36 year old right handed man, with a history of perinatal right ear deafness and undergoing evaluation for surgical treatment of seizures that began at age 10 years was studied. Language lateralisation testing by intracarotid sodium amobarbital injection showed receptive and expressive language functions to be strongly lateralised to the left hemisphere. Results with intracarotid sodium amobarbital injection further suggested that transmission of auditory input to the patient's left hemisphere was partially dependent on ipsilateral left ear pathways. Cortical language mapping through implanted subdural electrodes localised auditory language functions to traditional left posterior perisylvian language areas. These results suggest that early right ear deafness does not impede left hemisphere lateralisation and localisation of auditory language functions. Moreover, transmission of auditory information to the patient's left hemisphere seems to be accomplished, in part, by recruitment of ipsilateral left ear pathways.??
Boatman, D.; Krauss, G.
Context: Self-ear-cleaning has been reported to be common from several hospital-based studies and it has been associated with some diseases of the ear. Aims: To determine community-based prevalence of self-ear-cleaning and its sociodemographic correlates among educated young adults in Nigeria. Settings and Design: A cross-sectional survey conducted in a National Youth Service Corps camp in Nigeria. Subjects and Methods: Semistructured questionnaires were administered on a randomly selected sample of 1280 respondents. The outcome variable was self-ear-cleaning. Independent variables were sociodemographic variables, materials used and ear-cleaning habits. Statistical Analysis Used: Statistical Package for the Social Sciences (SPSS) version 15 was utilized for univariate, bivariate, and multiple logistic regression analysis. Results: There were 1012 respondents (M: F = 1.05:1). Mean age was 25.3 (standard deviation, 2.34). Prevalence of self-ear-cleaning was 93.4%. Mean age at first cleaning was 7.6 years. Cotton buds were the most frequently used objects (in 85.1%). Prevalence was high irrespective of sociodemographic class, significantly higher among females (?2 = 4.549, P = 0.033), those who believed the habit was beneficial (?2 = 114.185, P < 0.001) and those whose parents and siblings practiced the habit. Significant predictive factors were self-ear-cleaning in respondent's father [odds ratio (OR) P = 0.011) and owning cotton buds (OR = 0.192, P = 0.007). Conclusions: Self-ear-cleaning is almost universal. Most of the population is, therefore, at risk of possible harmful effects. Also, medical advice against self-ear-cleaning is not widely known. Rather, the erroneous perception that self-ear-cleaning is beneficial is common. Collaborative health education efforts targeted at families and schools and campaigns and advocacy for legislation regulating the sale of cotton buds are recommended.
Olaosun, Adedayo Olugbenga
We describe the complications of endovascular embolization for cerebral arteriovenous malformations (AVMs). 164 consecutive patients with AVMs treated by endovascular embolization between 1998 and 2003 were retrospectively reviewed. Over a five-year period, 292 embolization procedures were performed in 164 patients with embolization as the primary treatment modality (n=126) or as an adjunct to surgery (n =14) or radiosurgery (n=24). There were a total of 15 (9.1% per patient, 5.1% per procedure) complications in this series, of which 14 were clinically significant (8.5% of patients, 4.8% per procedure), and one was a technical complication (0.6% of patients, 0.3% per procedure). Excellent or good outcomes (Glasgow Outcome Scale ? 4) were observed in 136 (82.9%) patients at discharge. Neurological deficits (Glasgow Outcome Scale 1-4) as a direct result of embolization were 7.3% at discharge. In a single-center, retrospective, nonrandomized study, 82.9% of patients had excellent or good outcomes at discharge after AVM embolization, with a complication rate of 5.1%. PMID:24029089
Sun, Y; Lv, X; Li, Y; Li, A
Stereotactic linear accelerator (linac) radiosurgery has been in operation in the West Midlands since 1987, the first of its kind in the United Kingdom. Forty two patients with high-flow cerebral arteriovenous malformations have been treated, 26 of whom have been followed up. Angiography one year after treatment showed that five lesions were obliterated, 11 were reduced in size and/or flow rate and 10 were unchanged. Overall results show that nine out of 10 patients reviewed at 24 months had total obliteration. Three patients had complications; one has fully recovered, one died of an unrelated cause at 36 months and the other died from recurrent haemorrhage at nine months. Two patients had recurrent non-fatal haemorrhage within 24 months of treatment; both recovered without further deficit. All patients are fit to work but eight are unemployed. Although the follow up period is short, the early results indicate a success rate similar to those published by others using linac radiosurgery. Images
Kenny, B G; Hitchcock, E R; Kitchen, G; Dalton, A E; Yates, D A; Chavda, S V
The synthesis of tooth development biology with human studies focusing on inherited conditions that specifically interfere with tooth development is improving our understanding of normal and pathological tooth formation. The type of inherited dental malformations observed in a given kindred relate to when, during odontogenesis, the defective gene is critically expressed. Information about the protein encoded by the defective gene and the resulting dental phenotype helps us understand the major processes underway at different stages during tooth development. Genes affecting early tooth development (PAX9, MSX1, and AXIN2) are associated with familial tooth agenesis or oligodontia. Genes expressed by odontoblasts (COL1A1, COL1A2, and DSPP), and ameloblasts (AMELX, ENAM, MMP20, and KLK4) during the crown formation stage, are associated with dentinogenesis imperfecta, dentin dysplasia, and amelogenesis imperfecta. Late genes expressed during root formation (ALPL and DLX3) are associated with cementum agenesis (hypophosphatasia) and taurodontism. Understanding the relationships between normal tooth development and the dental pathologies associated with inherited diseases improves our ability to diagnose and treat patients suffering the manifestations of inherited dental disorders. PMID:17552940
Hu, Jan C-C; Simmer, James P
Congenital pulmonary airway malformation, or congenital cystic adenomatoid malformation, is postulated to be a disorder of pulmonary airway morphogenesis and encompasses 5 different types with distinct levels or stages of tracheobronchial development. We present a unique case of type 2 congenital pulmonary airway malformation with a previously undocumented combination of multiple extrapulmonary anomalies, featuring ipsilateral multicystic renal dysgenesis, contralateral renal
Truc T. Pham; Kurt Benirschke; Eliezer Masliah; J. Thomas Stocker; Eunhee S. Yi
Culturing middle ear fluid samples from children with chronic otitis media with effusion (OME) using standard techniques results in the isolation of bacterial species in approximately 30-50% of the cases. Haemophilus influenzae, Streptococcus pneumoniae and Moraxella catarrhalis, the classic middle ear pathogens of acute otitis media, are involved but, recently, several studies suggested Alloiococcus otitidis as an additional pathogen. In the present study, we used species-specific PCRs to establish the prevalence, in both the nasopharyngeal cavity and the outer ear, of H. influenzae, M. catarrhalis, S. pneumoniae and A. otitidis. The study group consisted of 70 healthy volunteers (aged 19-22 years). The results indicate a high prevalence (>80%) of A. otitidis in the outer ear in contrast to its absence in the nasopharynx. H. influenzae was found in both the outer ear and the nasopharynx (6% and 14%, respectively), whereas S. pneumoniae and M. catarrhalis were found only in the nasopharynx (9% and 34%, respectively).A. otitidis, described as a fastidious organism, were able to be cultured using an optimized culture protocol, with prolonged incubation, which allowed the isolation of A. otitidis in five of the nine PCR-positive samples out of the total of ten samples tested. Given the absence of the outer ear inhabitant A. otitidis from the nasopharynx, its role in the aetiology of OME remains ambiguous because middle ear infecting organisms are considered to invade the middle ear from the nasopharynx through the Eustachian tube. PMID:19895585
De Baere, T; Vaneechoutte, M; Deschaght, P; Huyghe, J; Dhooge, I
This study was undertaken to develop a functional model of otitis media with effusion (OME) in the pig (Sus scrofa), with the purpose of investigating the origin of lymphocytes populating the middle ear during the course of an inflammatory process. The relevance of the model to the human condition of OME is to a large extent dependent on the anatomical and physiological similarities between the middle ear cavity and the pharyngeal lymphoid tissue of the pig and man. Anatomical specimens were collected from 7 young Large White pigs to determine the gross anatomy of the middle ear cavity and the histological characteristics of the middle ear mucosa. It was found that the anatomy of the 3 parts of the middle ear cavity in man and in the pig is broadly similar, although some minor differences were observed. The porcine eustachian tube was seen to be cartilaginous throughout its length in contrast to the part osseous, part cartilaginous structure found in man; the porcine ossicles were slightly different in shape to those of man and the air cell system was situated inferior to the tympanic cavity in the pig as opposed to posteriorly in man. This paper describes the structure and morphology of the pig middle ear cavity and compares and contrasts it with that of man. The minor differences observed are of anatomical importance but do not diminish the usefulness of the pig middle ear cleft as a potential model for human middle ear disorders.
PRACY, J. P.; WHITE, A.; MUSTAFA, Y.; SMITH, D.; PERRY, M. E.
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 application of a micro- tomographic imaging device. Therefore an X-ray beam focused down to few microns passes the object in a tomographic arrangement. Subsequently the slices become reconstructed. Generally spatial resolution down to 10 micrometer may be obtained by using this procedure. But there exist few devices only, it is not available as standard equipment. The best results concerning spatial resolution should be achieved by applying conventional histologic sectioning techniques. Of course the target will become destroyed during the procedure. It is cut into sections (e.g., 10 micrometer thick), every layer is stained, and the image acquired and stored by a digital still-camera with appropriate resolution (e.g., 2024 X 3036). Three-dimensional reconstruction is done with the computer. The staining allows visual selection of bones and soft tissues, resolutions down to 10 micrometer are possible without target segmentation. But there arise some practical problems. Mainly the geometric context of the layers is affected by the cutting procedure, especially if cutting bone. Another problem performs the adjustment of the -- possibly distorted -- slices to each other. Artificial markers are necessary, which could allow automatic adjustment too. But the introduction and imaging of the markers is difficult inside the temporal bone specimen, that is interspersed by several cavities. Of course the internal target structures must not be destroyed by the marker introduction. Furthermore the embedding compound could disturb the image acquisition, e.g., by optical scattering of paraffin. A related alternative is given by layered ablation/grinding and imaging of the top layer. This saves the geometric consistency, but requires very tricky and time-consuming embedding procedures. Both approaches require considerable expenditures. The possible approaches are evaluated in detail and first results are compared. So far none of the above-mentioned procedures has been established as a standard tool for three-dimensional geometry data acquisition of the middle ear. Otherwise the establi
Vogel, Uwe; Schmitt, Thomas
The cup-drawing of a strongly anisotropic sheet metal is simulated using a commercial finite element software along with a user material subroutine. In order to accurately describe the plastic anisotropy of the material the well-known recent yield function 'Yld2004-18p' is extended. Regarding the experimental characterization of the considered material the occurrence of dynamic strain aging lead to an oscillating signal of the width change of the tensile samples, which prevented a reliable determination of plastic strain ratios (r-values). Thus, an improved measurement concept was developed that leads to a very robust and reproducible determination of r-values. Furthermore, a novel plane-strain tensile test sample is presented which is used for the characterization of the plastic anisotropy in biaxial loading states. A quantitative comparison with measured earing profiles of deep drawn cups illustrates the predictive capabilities of the numerical simulation.
Aretz, Holger; Aegerter, Johannes; Engler, Olaf [Hydro Aluminium Deutschland GmbH, Research and Development, Georg-von-Boeselager-Str. 21, D-53117 Bonn (Germany)
A musical canon consists of two melodic lines with the second part copying the first exactly after some time delay. Right-handed\\u000a adults listened to canons presented dichotically at time delays between the ears of 2, 4, and 8 sec. Presentation rate varied\\u000a from 1.0 to 4.4 notes\\/sec in one part. Different groups of subjects heard the canons with the left
W. J. Dowling
Capillary malformation-arteriovenous malformation (CM-AVM) is an autosomal-dominant disorder, caused by heterozygous RASA1 mutations, and manifesting multifocal CMs and high risk for fast-flow lesions. A limited number of patients have been reported, raising the question of the phenotypic borders. We identified new patients with a clinical diagnosis of CM-AVM, and patients with overlapping phenotypes. RASA1 was screened in 261 index patients with: CM-AVM (n = 100), common CM(s) (port-wine stain; n = 100), Sturge-Weber syndrome (n = 37), or isolated AVM(s) (n = 24). Fifty-eight distinct RASA1 mutations (43 novel) were identified in 68 index patients with CM-AVM and none in patients with other phenotypes. A novel clinical feature was identified: cutaneous zones of numerous small white pale halos with a central red spot. An additional question addressed in this study was the "second-hit" hypothesis as a pathophysiological mechanism for CM-AVM. One tissue from a patient with a germline RASA1 mutation was available. The analysis of the tissue showed loss of the wild-type RASA1 allele. In conclusion, mutations in RASA1 underscore the specific CM-AVM phenotype and the clinical diagnosis is based on identifying the characteristic CMs. The high incidence of fast-flow lesions warrants careful clinical and radiologic examination, and regular follow-up. PMID:24038909
Revencu, Nicole; Boon, Laurence M; Mendola, Antonella; Cordisco, Maria Rosa; Dubois, Josée; Clapuyt, Philippe; Hammer, Frank; Amor, David J; Irvine, Alan D; Baselga, Eulalia; Dompmartin, Anne; Syed, Samira; Martin-Santiago, Ana; Ades, Lesley; Collins, Felicity; Smith, Janine; Sandaradura, Sarah; Barrio, Victoria R; Burrows, Patricia E; Blei, Francine; Cozzolino, Mariarosaria; Brunetti-Pierri, Nicola; Vicente, Asuncion; Abramowicz, Marc; Désir, Julie; Vilain, Catheline; Chung, Wendy K; Wilson, Ashley; Gardiner, Carol A; Dwight, Yim; Lord, David J E; Fishman, Leona; Cytrynbaum, Cheryl; Chamlin, Sarah; Ghali, Fred; Gilaberte, Yolanda; Joss, Shelagh; Boente, Maria Del C; Léauté-Labrèze, Christine; Delrue, Marie-Ange; Bayliss, Susan; Martorell, Loreto; González-Enseñat, Maria-Antonia; Mazereeuw-Hautier, Juliette; O'Donnell, Brid; Bessis, Didier; Pyeritz, Reed E; Salhi, Aicha; Tan, Oon T; Wargon, Orli; Mulliken, John B; Vikkula, Miikka
A pedigree of branchio-oto-renal dysplasia (the BOR syndrome) is reported, including the documentation by serial audiometric studies of the onset and rapid progression of hearing loss in the twin sister of an affected child. The literature on this syndrome is analyzed to derive some figures for use in genetic counseling of such families. Branchio-oto-renal dysplasia is an autosomal dominant disorder in which affected individuals may have preauricular pits, lachrymal duct stenosis, hearing loss, branchial fistulas or cysts, structural defects of the outer, middle, and inner ear, and renal anomalies, which may range from mild hypoplasia to complete absence. Not all features of the syndrome are expressed in all carriers of the gene, but few carriers lack all the features, and the pits, branchial clefts, and hearing loss, are frequently expressed. Those offspring of affected persons who have pits or fistulas are likely (about 80%) to have hearing loss of varying degrees of severity. A minority of heterozygotes (about 7%) may have hearing loss without pits or fistulas. The risk of severe renal malformation is probably fairly low. Whether families that show dominant inheritance of pits, clefts, and deafness without renal anomalies represent variants of the BOR syndrome or a separate entity (the BO syndrome), is still not clear. At present, any individual with preauricular pits and branchial clefts deserves both otologic and renal investigation. PMID:263442
Fraser, F C; Ling, D; Clogg, D; Nogrady, B
The present study summarizes the experimental findings obtained on the pressure in the inner ear fluids and on the effects of pressure changes on cochlear function in the guinea pig. Two types of pressures have to be distinguished in the inner ear fluid compartments: (i) hydrostatic fluid pressure and (ii) superimposed hydrodynamic high frequency (> 100 Hz) sound pressure oscillations. Hydrostatic pressure in the inner ear fluids in guinea pigs is in the order of 200 Pa (2 cm H2O) and shows slow (< 5 Hz) respiratory and pulsatory oscillations as well as considerable physiological variations in the range of -100 to +700 Pa. In normal ears, hydrostatic pressure in the perilymph equals pressure in the endolymph, and pressure changes applied to one compartment are immediately transmitted to the other one. A high compliance of Reissner's membrane seems to be the cause of this endolymphatic-perilymphatic pressure equalization. In experimental endolymphatic hydrops, a unique animal model for Meniere's disease, endolymphatic pressure is higher (100 Pa and above) than perilymphatic pressure. These pressure gradients occur only in late stages of hydrops, probably when Reissner's membrane has lost its high compliance after long standing distension. Positive endolymphatic-perilymphatic pressure gradients are secondary to and not the primary cause of hydrops formation. Changes of hydrostatic pressure do not affect auditory function as long as they stay in the physiological range. This includes the sudden loss of positive inner ear pressure that occurs in perilymph fistulas. The rationale for surgical repair of perilymph fistulas in patients in order to restore the hearing function thus becomes questionable. Other aspects of surgical repair, however, as e.g. prevention of labyrinthitis due to permanently open fistula, could not be investigated in this model, because in guinea pigs even large fistulas heal spontaneously within a few days. In experimental endolymphatic hydrops, deterioration of auditory thresholds was partially correlated to the presence of positive endolymphatic-perilymphatic pressure gradients. A change in pressure, however, occurred later than the first deterioration in auditory function. Therefore positive endo-perilymphatic pressure gradients may contribute to, but are not the only cause of hearing impairment. PMID:8273452
A number of acoustical applications require the transformation of acoustical quantities, such as impedance and pressure that are measured at the entrance of the ear canal, to quantities at the eardrum. This transformation often requires knowledge of the shape of the ear canal. Previous attempts to measure ear-canal area functions were either invasive, non-reproducible, or could only measure the area function up to a point mid-way along the canal. A method to determine the area function of the ear canal from measurements of acoustic impedance at the entrance of the ear canal is described. The method is based on a solution to the inverse problem in which measurements of impedance are used to calculate reflectance, which is then used to determine the area function of the canal. The mean ear-canal area function determined using this method is similar to mean ear-canal area functions measured by other researchers using different techniques. The advantage of the proposed method over previous methods is that it is non- invasive, fast, and reproducible.
Rasetshwane, Daniel M.; Neely, Stephen T.
CHARGE syndrome is a multiple congenital anomaly disorder that leads to life-threatening birth defects, such as choanal atresia and cardiac malformations as well as multiple sensory impairments, that affect hearing, vision, olfaction and balance. CHARGE is caused by heterozygous mutations in CHD7, which encodes an ATP-dependent chromatin remodeling enzyme. Identification of the mechanisms underlying neurological and sensory defects in CHARGE is a first step toward developing treatments for CHARGE individuals. Here, we used mouse models of Chd7 deficiency to explore the function of CHD7 in the development of the subventricular zone (SVZ) neural stem cell niche and inner ear, structures that are important for olfactory bulb neurogenesis and hearing and balance, respectively. We found that loss of Chd7 results in cell-autonomous proliferative, neurogenic and self-renewal defects in the perinatal and mature mouse SVZ stem cell niche. Modulation of retinoic acid (RA) signaling prevented in vivo inner ear and in vitro neural stem cell defects caused by Chd7 deficiency. Our findings demonstrate critical, cooperative roles for RA and CHD7 in SVZ neural stem cell function and inner ear development, suggesting that altered RA signaling may be an effective method for treating Chd7 deficiency. PMID:24026680
Micucci, Joseph A; Layman, Wanda S; Hurd, Elizabeth A; Sperry, Ethan D; Frank, Sophia F; Durham, Mark A; Swiderski, Donald L; Skidmore, Jennifer M; Scacheri, Peter C; Raphael, Yehoash; Martin, Donna M
The epidemiology and natural history of cerebral arteriovenous malformations (AVMs) remains incompletely elucidated. Several factors are responsible. With regard to the incidence and prevalence of AVMs, the results of prior studies have suffered because of the retrospective design, the use of nonspecific ICD-9 codes, and a focus on small genetically isolated populations. Recent data from the New York Islands AVM Hemorrhage Study, an ongoing, prospective, population-based survey determining the incidence of AVM-related hemorrhage and the associated rates of morbidity and mortality in a zip code-defined population of 10 million people, suggests that the AVM detection rate is 1.21/100,000 person-years (95% confidence interval [CI] 1.02-1.42) and the incidence of AVM-hemorrhage is 0.42/100,000 person-years (95% CI 0.32-0.55). Contemporaneous data from the Northern Manhattan Stroke Study, a prospective, longitudinal population-based study of nearly 150,000 patients in which the focus is to define the incidence of stroke, suggest the crude incidence for first-ever AVM-related hemorrhage to be 0.55/100,000 person-years (95% CI 0.11-1.61). Efforts are ongoing to study the natural history of both ruptured and unruptured AVMs in these datasets to examine the relevance of prior studies of patients selected for conservative follow up in Finland. In addition, data are being gathered to determine whether risk factors for future hemorrhage, which have previously been established in small case series, are valid when applied to whole populations. Together, these data should help inform therapeutic decisionmaking. PMID:16466233
Stapf, C; Mohr, J P; Pile-Spellman, J; Solomon, R A; Sacco, R L; Connolly, E S
Objective To estimate the frequency, mechanisms and predictive factors of sleep apnoea syndrome (SAS) in a large group of children and adults with type I (CMI) and II (CMII) Chiari malformation (CM). Background The anatomical and functional integrity of both respiratory circuits and lower cranial nerves controlling the upper airway is necessary for breathing control during sleep. These latter structures may be altered in CM, and a few investigations have reported CM related sleep disordered breathing. Methods Forty?six consecutive unrelated patients with CM (40 CMI, six CMII), of which 20 were children (eight males) and 26 were adults (12 males), underwent physical, neurological and oto?rhino?laryngoscopic examination, MRI and polysomnography. Results SAS was present in 31 (67.4%) of the patients with CM (70% of CMI, 50% of CMII, including mainly children). Sixty per cent of children with CM exhibited SAS, including 35% with obstructive (OSAS) and 25% with central (CSAS) sleep apnoea syndrome. SAS was observed in 73% of CM adults (57.7% OSAS, 15.4% CSAS). Severe SAS was found in 23% of CM adults. Multiple regression analysis revealed that age, type II Chiari and vocal cord paralysis predicted the central apnoea index. Conclusion SAS is highly prevalent in all age groups of patients suffering from CM. CSAS, a rare condition in the general population, was common among the patients with CM in our study. Sleep disordered breathing associated with CM may explain the high frequency of respiratory failures observed during curative surgery of CM. Our results suggest that SAS should be systematically screened for in patients with CM, especially before surgery.
Dauvilliers, Y; Stal, V; Abril, B; Coubes, P; Bobin, S; Touchon, J; Escourrou, P; Parker, F; Bourgin, P
The development and evolution of mechanosensory cells and the vertebrate ear is reviewed with an emphasis on delineating the cellular, molecular and developmental basis of these changes. Outgroup comparisons suggests that mechanosensory cells are ancient features of multicellular organisms. Molecular evidence suggests that key genes involved in mechanosensory cell function and development are also conserved among metazoans. The divergent morphology of mechanosensory cells across phyla is interpreted here as ‘deep molecular homology’ that was in parallel shaped into different forms in each lineage. The vertebrate mechanosensory hair cell and its associated neuron are interpreted as uniquely derived features of vertebrates. It is proposed that the vertebrate otic placode presents a unique embryonic adaptation in which the diffusely distributed ancestral mechanosensory cells became concentrated to generate a large neurosensory precursor population. Morphogenesis of the inner ear is reviewed and shown to depend on genes expressed in and around the hindbrain that interact with the otic placode to define boundaries and polarities. These patterning genes affect downstream genes needed to maintain proliferation and to execute ear morphogenesis. We propose that fibroblast growth factors (FGFs) and their receptors (FGFRs) are a crucial central node to translate patterning into the complex morphology of the vertebrate ear. Unfortunately, the FGF and FGFR genes have not been fully analyzed in the many mutants with morphogenetic ear defects described thus far. Likewise, little information exists on the ear histogenesis and neurogenesis in many mutants. Nevertheless, a molecular mechanism is now emerging for the formation of the horizontal canal, an evolutionary novelty of the gnathostome ear. The existing general module mediating vertical canal growth and morphogenesis was modified by two sets of new genes: one set responsible for horizontal canal morphogenesis and another set for neurosensory formation of the horizontal crista and associated sensory neurons. The dramatic progress in deciphering the molecular basis of ear morphogenesis offers grounds for optimism for translational research toward intervention in human morphogenetic defects of the ear.
Fritzsch, Bernd; Pauley, Sarah; Beisel, Kirk W.
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.
Zhang, Lin; Ding, Zhixuan; Li, Hongyu; Shen, Ying
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
Zhang, Lin; Ding, Zhixuan; Li, Hongyu; Shen, Ying
We report a rare case of granuloma annulare (GA), affecting both ear antihelixes, in a 28-year old male patient that presented with a 1-year history of non-tender, firm, skin-colored, 1~5 mm papules on both ear antihelixes. There was no history of trauma. An excisional biopsy specimen taken from one of the lesions of the right ear revealed infiltration of histiocytes and lymphocytes around a zone of collagen alteration in the dermis. Based on the clinical and pathological findings, the patient was diagnosed with a rare case of bilateral GA of both antihelixes; this is the first report in the Korean dermatology literature.
Kim, Jin Gu; Lee, Seung Hun
Single field, fixed irradiation of bilateral tympanic cavities using 200-kV x-rays was administered to five guinea pigs. The irradiation dose was 30 Gy. They were killed immediately after irradiation, and bilateral middle ear mucosa was examined for ciliary activity and epithelial structure. Significant deterioration of the ciliary activity in the middle ear mucosa was observed, proximal as well as distal to the eustachian tube. Electron microscopy showed various changes in the irradiated middle ear mucosa. The most conspicuous findings were hyperreactivity in secretion, vacuolation of ciliated cells, and stomal edema.
Ohashi, Y.; Nakai, Y.; Esaki, Y.; Ikeoka, H.; Koshimo, H.; Onoyama, Y.
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.
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.
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.
Nadezhda Telegina, Ms; Aleksandr Chupakhin, Mr; Aleksandr Cherevko, Mr
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 cell types in the lateral line have equally significant implications for studies of the vestibular system.
Popper, Arthur N. (Principal Investigator)
Multiple venous malformations (VMs) pose some of the most difficult challenges in the practice of medicine today. Clinical manifestations of these lesions are extremely protean. Because of the rarity of these lesions, experience in their diagnosis and management by most clinicians is limited. This augments the enormity of the problem and can lead to misdiagnoses, inadequate treatment, high complication rates and poor patient outcomes. Because these lesions can recur, removal of the nidus is the main priority. Vascular malformations are best treated in medical centers where patients with these maladies are seen regularly and the team approach is utilized. The presence of intralesional nerve in arteriovenous malformation (AVM) and sometimes in VMs, as reported in this study, provides an additional diagnostic criterion that is simple and reliable and can be readily used to differentiate VMs from hemangiomas.
Lakkasetty, Yogesh T; Malik, Sangeeta; Shetty, Akshay; Nakhaei, Kourosh
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.
Suh, Jin-Suck [Yonsei University, College of Medicine, Department of Diagnostic Radiology (Korea, Republic of); Shin, Kyoo-Ho [Yonsei University, College of Medicine, Department of Orthopedic Surgery (Korea, Republic of); Na, Jae-Bum [Kyungsang University, College of Medicine, Department of Diagnostic Radiology (Korea, Republic of); Won, Jong-Yun [Yonsei University, College of Medicine, Department of Diagnostic Radiology (Korea, Republic of); Hahn, Soo-Bong [Yonsei University, College of Medicine, Department of Orthopedic Surgery (Korea, Republic of)
White lions (Panthera leo krugeri) have never been common in the wild, and at present, the greatest population is kept in zoos where they are bred for biological and biodiversity conservation. During the years 2003 to 2008 in a zoological garden in northern Italy, 19 white lions were born to the same parents, who were in turn paternally consanguineous. Out of the 19 lions, 4 (21%) were stillborn, 13 (69%) died within 1 month, and 1 (5%) was euthanatized after 6 months because of difficulty with prehension of food. Six lions (32%) showed malformations involving the head (jaw, tongue, throat, teeth, and cranial bones). One lion (5%) still alive at 30 months revealed an Arnold-Chiari malformation upon submission for neurological evaluation of postural and gait abnormalities. Paternal consanguinity of the parents, along with inbreeding among white lions in general, could account for the high incidence of congenital malformations of the head in this pride of white lions. PMID:20826844
Scaglione, F E; Schröder, C; Degiorgi, G; Zeira, O; Bollo, E
Brain vascular malformations are recognized as having potential to produce hemorrhage, but leading to sudden death in children is uncommon. Arteriovenous malformations may be situated in any region of the brain, but very rarely, they can be restricted to the choroid plexus. We report here a rare case of sudden death in a child, caused by a ruptured vascular malformation with an unusual location, which was not identified grossly but only on histological examination. The size and the location of the lesion, as well as the age of our patient, were contributing factors of the massive bleeding. Autopsy remains an important tool because it provides valuable information about the etiology of such bleedings, improves knowledge about these lesions, and enhances epidemiologic data. PMID:24781402
Cioca, Andreea; Gheban, Dan; Perju-Dumbrava, Dan; Chiroban, Ovidiu; Mera, Mihaela
Human ear has been long proved to be a promising candidate for personal identification. Human ear, with its 3D structure stability and detail expressive, has drawn researchers' attention recently. The posture of ear always changes to the motion of head, it is necessary to normalize an ear to a standard posture to ensure the accuracy of feature extraction. This paper
Chao Huang; Guangming Lu; Yahui Liu
Researchers have suggested that the ear may have advantages over the face for biometric recognition. Our previous experiments with ear and face recognition, using the standard principal component analysis approach, showed lower recognition performance using ear images. We report results of similar experiments on larger data sets that are more rigorously controlled for relative quality of face and ear images.
Kyong I. Chang; Kevin W. Bowyer; Sudeep Sarkar; Barnabas Victor
The use of spontaneous and evoked otacoustic emissions is now a standard clinical tool for diagnosis of the function of the inner ear. However, it is not possible to extract this information over the entire, functionally relevant frequency range because of imperfect coupling of: (1) stapedial to ear-drum vibrations through the ossicular chain of the middle ear and (2) ear-drum
J. Rodriguez Jorge; Werner Hemmert; C. Burkhardt; Hans-Peter Zenner; Anthony W. Gummer
... Vaccines Hearing Loss and Ear Infection Find an ENT Last Name ZIP Code More Options About Otolaryngology ... United States. Otolaryngologists are commonly referred to as ENT physicians. Learn More Free Download AAO-HNS MarketPlace ...
The pathophysiology, differential diagnosis, and currently available management of barotrauma affecting the ears and sinuses after scuba diving are reviewed, along with medical standards for resuming scuba diving after barotrauma has resolved. PMID:11407445
Becker, G D; Parell, G J
Size, proportions, level, inclination and shape of the ears were assessed by anthrompometric methods in eight patients with Treacher Collins' syndrome, eleven with Apert's, and 25 with Crouzon's syndrome.
L. G. Farkas; Walter Zingg
The use of tympanostomy tubes to treat middle ear disease including otitis media is discussed with sections on the eustachian tube; acute otitis media; persistent effusion; changes in the tympanic membrane; special populations; and complications. (DB)
Roland, Peter S.; Brown, Orval
... has and if antibiotics would help. Acute otitis media The type of ear infection that is usually ... for AOM, but are not always necessary. Otitis media with effusion Otitis media with effusion (uh-FEW- ...
Acoustic communication is widespread in animals. According to the sensory drive hypothesis [Endler JA (1993) Philos Trans R Soc Lond B Biol Sci 340(1292):215-225], communication signals and perceptual systems have coevolved. A clear illustration of this is the evolution of the tetrapod middle ear, adapted to life on land. Here we report the discovery of a bone conduction-mediated stimulation of the ear by wave propagation in Sechellophryne gardineri, one of the world's smallest terrestrial tetrapods, which lacks a middle ear yet produces acoustic signals. Based on X-ray synchrotron holotomography, we measured the biomechanical properties of the otic tissues and modeled the acoustic propagation. Our models show how bone conduction enhanced by the resonating role of the mouth allows these seemingly deaf frogs to communicate effectively without a middle ear. PMID:24003145
Boistel, Renaud; Aubin, Thierry; Cloetens, Peter; Peyrin, Françoise; Scotti, Thierry; Herzog, Philippe; Gerlach, Justin; Pollet, Nicolas; Aubry, Jean-François
This study aimed to determine the mean values of the different morphometric measurements from right and left ears. These measurements\\u000a were taken from 341 healthy young adults (150 women and 191 men) ages 18 to 25 years using an electronic digital caliper.\\u000a The results showed the mean values for total ear height, lobular height and width, distances from tragus to
M. Gülhal Bozk?r; P?nar Karaka?; Metin Yavuz; Fahri Dere
We present a new technique called disjoint decreasing ear paths, which is based on a graph's open ear decomposition. We apply this technique in CRCW PRAM parallel algorithms for the two vertex disjoint s — t paths problem and the maximal path problem in planar graphs. These run in O(log n) time with n + m processors and O(log2\\u000an)
Louis Ibarra; Dana S. Richards
In order to investigate the sound transmission in the middle ear in detail and the changes brought about by operations, an\\u000a appropriate transducer was developed. Modern techniques in operative treatment of otosclerosis change the acoustic parameters\\u000a of the ear; one of the operations is to penetrate the fixed stapedial footplate with a wire aftached to the incus to transmit\\u000a sound
H. Fischler; E. H. Frei; M. Rubinsteins; D. Spira
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 ...
There is significant confusion in the literature when describing vascular anomalies, and vascular malformations are often misnamed or incorrectly classified. Part I of this two-part series on the diagnosis and management of extensive vascular malformations of the lower limbs will discuss the dermatologist's role in the diagnosis of these lesions. At least nine types of vascular malformations with specific clinical and radiologic characteristics must be distinguished in the lower limbs: Klippel-Trénaunay syndrome, port-wine stain with or without hypertrophy, cutis marmorata telangiectatica congenita, macrocephaly-capillary malformation, Parkes Weber syndrome, Stewart-Bluefarb syndrome, venous malformation, glomuvenous malformation, and lymphatic malformation. This article highlights the differences in clinical appearance and discusses the differential diagnosis of extensive vascular malformations in an attempt to ensure earlier diagnosis and better outcomes for these patients. PMID:22000870
Redondo, Pedro; Aguado, Leyre; Martínez-Cuesta, Antonio
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 throughout pregnancy and the prenatal diagnosis of their congenital malformations.
Hindryckx, A.; De Catte, L.
Dandy Walker malformation (DWM) is a rare congenital brain anomaly characterized by cystic dilation of the fourth ventricle and hypoplasia of the cerebellar vermis. Other extracranial anomalies can be associated, including cardiac defects. We report a rare patient with DWM associated with progressive heart failure secondary to hypertrophic cardiomyopathy. He was diagnosed at 2 months of age and died 5 months later. We conclude that hypertrophic cardiomyopathy can be associated with DWM with poor prognosis. A careful cardiac evaluation is needed in all infants with DWM for early recognition of such potentially serious associated cardiac malformations. PMID:21048653
Kurdi, Maher E; Chamsi-Pasha, Mohammed A; Baeesa, Saleh S; Jan, Mohammed M
Since the first discovery of malformed frogs by an adventurous middle school teacher and her after-school science club in 1995, outreach programs like A Thousand Friends of Frogs (see Resources) have been created to connect students and teachers with scientists so that they can better understand frogs and their habitats. Many of the amphibian-malformation activities published in education-practitioner journals approach this subject through internet investigations (Webster 2002), hypothetical case studies (Murphy and Fortner 2001), or reading with discussion (Davidson, Matthews, and Patrick 2001). These activities can be supplemented with inquiry-based labs designed to instruct and engage students about conservation biology, as described in this article.
Talley, Brooke L.
Cavernous malformation (CM) is a vascular malformation disorder characterized by a berry-like mass of expanded blood vessels. CM, originating from the optic chiasm. usually leads to chiasma syndrome presenting with bitemporal hemianopsia. We report a 28-year-old male presenting with left homonymous hemianopsia. Magnetic resonance imaging (MRI) revealed an occupied lesion located in the right side of the optic chiasm, and a clinical diagnosis of chiasmal CM was made. Microsurgical excision was performed via anterolateral pterional craniotomy. The patient showed good recovery with slight improvement of the visual field deficits after the operation. No CM recurrence was discovered during the follow-up MRI scans.
We investigated the contribution of the middle ear to the physiological response to bone conduction stimuli in chinchilla. We measured intracochlear sound pressure in response to air conduction (AC) and bone conduction (BC) stimuli before and after interruption of the ossicular chain at the incudo-stapedial joint. Interruption of the chain effectively decouples the external and middle ear from the inner ear and significantly reduces the contributions of the outer ear and middle ear to the bone conduction response. With AC stimulation, both the scala vestibuli Psv and scala tympani Pst sound pressures drop by 30 to 40 dB after the interruption. In BC stimulation, Psv decreases after interruption by about 10 to 20 dB, but Pst is little affected. This difference in the sensitivity of the BC induced Psv and Pst to ossicular interruption is not consistent with a BC response to ossicular motion, but instead suggests a significant contribution of an inner-ear drive (e.g. cochlear fluid inertia or compressibility) to the BC response.
Chhan, David; Roosli, Christof; McKinnon, Melissa L.; Rosowski, John J.
Retinoic acid is a biologically active derivative of vitamin A that is indispensable for inner ear development. The normal function of retinoic acid is achieved only at optimal homeostatic concentrations, with an excess or deficiency in retinoic acid leading to inner ear dysmorphogenesis. We present an overview of the role of retinoic acid in the developing mammalian inner ear, discussing both how and when retinoic acid may act to critically control a program of inner ear development. Molecular mechanisms of otic teratogenicity involving two members of the fibroblast growth factor family, FGF3 and FGF10, and their downstream targets, Dlx5 and Dlx6, are examined under conditions of both retinoic acid excess and deficiency. We term the effect of too little or too much retinoic acid on FGF/Dlx signaling a Goldilocks phenomenon. We demonstrate that in each case (retinoic acid excess, retinoic acid deficiency), retinoic acid can directly affect FGF3/FGF10 signaling within the otic epithelium, leading to downregulated expression of these essential signaling molecules, which in turn, leads to diminution in Dlx5/Dlx6 expression. Non-cell autonomous affects of the otic epithelium subsequently occur, altering transforming growth factor beta (TGF?) expression in the neighboring periotic mesenchyme and serving as a putative explanation for retinoic acid-mediated otic capsule defects. We conclude that retinoic acid coordinates inner ear morphogenesis by controlling an FGF/Dlx signaling cascade, whose perturbation by deviations in local retinoid concentrations can lead to inner ear dysmorphogenesis.
Frenz, Dorothy A.; Liu, Wei; Cvekl, Ales; Xie, Qing; Wassef, Lesley; Quadro, Loredana; Niederreither, Karen; Maconochie, Mark; Shanske, Alan
Background: Ear cartilage piercing is increasingly popular and has a significant complication rate. Contrary to popular belief, there are no minimum qualifications required to practice ear piercing. This study evaluated ear cartilage piercing practices in London, UK. Method: Practitioners at 25 piercing parlours completed a telephone questionnaire assessing piercing practice. Results: Ninety-six per cent of practitioners were aware of the risk of infection post-piercing. Four per cent, 12 per cent and 0 per cent of practitioners were aware of keloid scarring, hypertrophic scarring and cauliflower ear respectively. No practitioners were aware of any other complications. Their consent forms did not document any ear cartilage complications. Twenty-eight per cent of participants advised clients to seek medical attention following a complication. Forty per cent did not provide written post-piercing guidance. Conclusion: Piercing practitioners were insufficiently aware of ear cartilage piercing complications. It is unlikely that informed consent was obtained prior to piercing. The post-piercing practice of the majority of parlours did not follow published national guidance. PMID:24909453
Mandavia, R; Kapoor, K; Ouyang, J; Osmani, H
Background When presented with different sounds in each ear (dichotic listening), healthy subjects typically show a preference for stimuli heard in the right ear, an effect termed “right ear advantage”. Previous studies examining right ear advantage in schizophrenia have been inconsistent, showing either decreased or increased advantage relative to comparison subjects. Given evidence for enhanced semantic processing in schizophrenia, some of this inconsistency may be due to the type of stimuli presented (words or syllables). The present study examined right ear advantage in patients and controls using both words and syllables as stimuli. Methods Right ear advantage was compared between 20 patients with schizophrenia and 17 healthy controls. Two versions of the task were used, ie, a consonant-vowel pairing task and a fused rhymed words task. Results A significant group × task interaction was observed. Relative to healthy controls, patients showed a greater difference on the syllable-based task compared with the word-based task. The number of distractors marked during the syllable-based task was inversely correlated with score on the Global Assessment of Function Scale. Conclusion The findings are consistent with a left hemisphere dysfunction in schizophrenia, but also suggest that differences may be stimulus-specific, with a relative sparing of the deficit in the context of word stimuli. Performance may be related to measures of social, occupational, and psychological function.
Smucny, Jason; Wylie, Korey; Tregellas, Jason
The middle ear muscle (MEM) reflex is one of two major descending systems to the auditory periphery. There are two middle ear muscles (MEMs): the stapedius and the tensor tympani. In man, the stapedius contracts in response to intense low frequency acoustic stimuli, exerting forces perpendicular to the stapes superstructure, increasing middle ear impedance and attenuating the intensity of sound energy reaching the inner ear (cochlea). The tensor tympani is believed to contract in response to self-generated noise (chewing, swallowing) and nonauditory stimuli. The MEM reflex pathways begin with sound presented to the ear. Transduction of sound occurs in the cochlea, resulting in an action potential that is transmitted along the auditory nerve to the cochlear nucleus in the brainstem (the first relay station for all ascending sound information originating in the ear). Unknown interneurons in the ventral cochlear nucleus project either directly or indirectly to MEM motoneurons located elsewhere in the brainstem. Motoneurons provide efferent innervation to the MEMs. Although the ascending and descending limbs of these reflex pathways have been well characterized, the identity of the reflex interneurons is not known, as are the source of modulatory inputs to these pathways. The aim of this article is to (a) provide an overview of MEM reflex anatomy and physiology, (b) present new data on MEM reflex anatomy and physiology from our laboratory and others, and (c) describe the clinical implications of our research.
Mukerji, Sudeep; Windsor, Alanna Marie; Lee, Daniel J.
We report a case of malignant melanoma of Eustachian tube with extension to the middle ear cavity and nasopharynx in a 51-year-old woman who presented with right ear fullness. Computed tomography showed a soft tissue mass in the middle ear cavity and causedthe widening and eroding of the bony eustachian tube. Magnetic resonance imaging showed well enhancing mass in eustachian tube extending nasopharynx to middle ear cavity. A biopsy of the middle ear cavity mass revealed a malignant amelanotic melanoma.
Kim, Hong Chul; Jang, Han Won
The infant mortality from cardiovascular malformations in a region with a population of 2 million inhabitants during a 10-year period has been studied. The study involved validation of the diagnoses and judgement whether the cardiovascular malformation was the dominating or a contributing cause of death. It is shown that the incidence of fatal cardiovascular malformations is probably overestimated in the
E Esscher; M Michaëlsson; B Smedby
Arteriovenous malformations of the lower urinary tract are uncommon lesions, usually presenting as scrotal masses. A case of recurrent acute scrotal pain mimicking testicular torsion that was attributed to the presence of an arteriovenous malformation of the spermatic cord is described. To our knowledge this is the first reported case of an arteriovenous malformation of the spermatic cord presenting with
Petros Sountoulides; Athanasios Bantis; Irene Asouhidou; Hellen Aggelonidou
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,…
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
Chiari malformation type 1 (CM1) is a developmental abnormality of the cerebellar tonsils. Patients with CM1 commonly present with headache. Papilloedema is rarely seen in CM1. However, a 52-year-old woman presented to the hospital with a headache and her ophthalmological examination revealed bilateral papilloedema. Her cranial MRI was compatible with borderline CM1. Bilateral papilloedema and headache suggested idiopathic intracranial hypertension (IIH) as the preliminary diagnosis. IIH is a rare case in CM1. This article argues about this association and discusses as to whether it is an acquired or congenital Chiari malformation. PMID:24898995
It has been reported that the physiological motion of the stapes in human and several animals in response to acoustic stimulation is mainly piston-like at low frequencies. At higher frequencies, the pattern includes rocking motions around the long and short axes of the footplate in human and animal ears. Measurements of such extended stapes motions are highly sensitive to the exact angulation of the stapes in relation to the measurement devices and to measurement errors. In this study, velocity in a specific direction was measured at multiple points on the footplates of human temporal bones using a Scanning Laser Doppler Vibrometer (SLDV) system, and the elementary components of the stapes motions, which were the piston-like motion and the rocking motions about the short and long axes of the footplate, were calculated from the measurements. The angular position of a laser beam with respect to the stapes and coordinates of the measurement points on the footplate plane were calculated by correlation between the SLDV measurement frame and the footplate-fixed frame, which was obtained from micro-CT images. The ratios of the rocking motions relative to the piston-like motion increased with frequency and reached a maximum around 7 kHz.A novel method for quantitatively assessing measurements of complex stapes motions and error boundaries of the motion components is presented. In the frequency range of 0.5 to 8 kHz, the magnitudes of the piston-like and two rocking motions were larger than estimated values of the corresponding upper error bounds. PMID:20165895
Sim, Jae Hoon; Chatzimichalis, Michail; Lauxmann, Michael; Röösli, Christof; Eiber, Albrecht; Huber, Alexander M
Polymicrogyria (PMG) is one of the most common malformations of cortical development. It is characterized by overfolding of the cerebral cortex and abnormal cortical layering. It is a highly heterogeneous malformation with variable clinical and imaging features, pathological findings, and etiologies. It may occur as an isolated cortical malformation, or in association with other malformations within the brain or body as part of a multiple congenital anomaly syndrome. Polymicrogyria shows variable topographic patterns with the bilateral perisylvian pattern being most common. Schizencephaly is a subtype of PMG in which the overfolded cortex lines full-thickness clefts connecting the subarachnoid space with the cerebral ventricles. Both genetic and non-genetic causes of PMG have been identified. Non-genetic causes include congenital cytomegalovirus infection and in utero ischemia. Genetic causes include metabolic conditions such as peroxisomal disorders and the 22q11.2 and 1p36 continguous gene deletion syndromes. Mutations in over 30 genes have been found in association with PMG, especially mutations in the tubulin family of genes. Mutations in the (PI3K)-AKT pathway have been found in association PMG and megalencephaly. Despite recent genetic advances, the mechanisms by which polymicrogyric cortex forms and causes of the majority of cases remain unknown, making diagnostic and prenatal testing and genetic counseling challenging. This review summarizes the clinical, imaging, pathologic, and etiologic features of PMG, highlighting recent genetic advances. © 2014 Wiley Periodicals, Inc. PMID:24888723
Stutterd, Chloe A; Leventer, Richard J
When the size of an arteriovenous malformation (AVM) in any one direction is more than 4 cm, an attempt is made to treat it in two stages, separated by 6 months. The first stage treats one-half of the AVM and the remainder is treated in the second stage, thus giving rise to a higher prescription dose for each stage. Therefore,
Hideo D. Kubo; Richard B. Wilder; Conrad T. Pappas; John D. Earle; Robin L. Stern
C57BL/6N mice, used to model induction of cleft palate and kidney malformations in offspring following maternal treatment with TCDD, were dosed on gestation day (gd) 9 with ,2',4,4',5,5'-hexachloro-biphenyl (HCB) (62.5, 125, 250, 500. 1000 mg/kg) and/or gd 10 with 2,3,7,8-tetrach...
In order to evaluate the teratogenic potential of acetazolamide in rabbits, three groups of 18 artificially inseminated females were treated orally with 50, 100, or 150 mg/kg/day of acetazolamide on days 6-18 of gestation. These doses induced maternal acidosis and electrolyte changes, consistent with those reported in rats and considered to be a result of carbonic anhydrase inhibition, as well as reductions in maternal body weight gain. At cesarean sections, average fetal body weights in the acetazolamide groups were dose-dependently decreased compared with controls. There were no effects of acetazolamide on embryonic survival or external morphology of live fetuses. In the fetal skeletal examination, thoracic and lumbar vertebral malformations occurred in 0.7%, 3.9%, and 6.1% of fetuses in the 50, 100, and 150 mg/kg/day groups, respectively, compared with none in the control group. In addition, missing vertebra was seen in a small number of fetuses in the 100 and 150 mg/kg/day groups. These axial skeletal malformations were, in some cases, associated with costal malformations. These results indicate that acetazolamide at maternotoxic doses can produce axial skeletal malformations in the rabbit. PMID:1412055
Nakatsuka, T; Komatsu, T; Fujii, T
The vertebrate limb is a powerful model system for studying the cellular and molecular interactions that determine morphological pattern during embryonic development. Recent advances in our understanding of these interactions have shed new light on the molecular mechanisms of vertebrate limb development, evolution and congenital malformations. The transfer of information has, until recently, been largely one way, with developmental studies
Martin J. Cohn; Philippa E. Bright
Sonography is the method of choice for prenatal malformation screening but it does not always provide sufficient information for correct diagnosis or adequate abnormality evaluation. Fetal magnetic resonance imaging (MRI) is considered as a valuable second line imaging tool for confirmation, completion and correction of sonographic findings. Fetal MRI has proven its value in the evaluation of central nervous system
Izabela Herman-Sucharska; Monika Bekiesi?ska-Figatowska; Andrzej Urbanik
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.
Taylor, Brynn; Skelly, David; Demarchis, Livia K.; Slade, Martin D.; Galusha, Deron; Rabinowitz, Peter M.
Purely extradural lumbar spinal arteriovenous malformations (AVMs) are rare lesions that have diverse presentations and imaging features. The treatment of a symptomatic high flow paraspinal AVM with multiple feeders remains a challenge. We report the first use of an Ascent balloon (dual lumen balloon catheter) to deliver Onyx with excellent penetration to a paraspinal AVM. PMID:23524491
Martínez-Galdámez, Mario; Rodriguez-Arias, Carlos A; Utiel, Elena; Arreba, Emilio; Gonzalo, Miguel; Arenillas, Juan F
Public concern exists about the potential for reproductive damage that may result from exposures to environmental contaminants. Therefore, the authors sought to determine if there was an association between a child's congenital malformation or a child's lowered weight at birth and his or her mother's residence in a census tract where a site of environmental contamination had been documented. Exposure
G. M. Shaw; J. Schulman; J. D. Frisch; J. A. Harris; S. K. Cummins
Public concern exists about the potential for reproductive damage that may result from exposures to environmental contaminants. Therefore, the authors sought to determine if there was an association between a child's congenital malformation or a child's lowered weight at birth and his or her mother's residence in a census tract where a site of environmental contamination had been documented. Exposure
Gary M. Shaw; Jane Schulman; Jonathan D. Frisch; Susan K. Cummins; John A. Harris
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
M R Creasy; E D Alberman
Pathological manifestations in fishes from the polluted environment reflect the deleterious effects of environmental damage to higher animals in the food chain including man. Industrial and mining wastes containing cadmium ions induced several abnormalities and metabolic disorders in aquatic animals. Though cadmium is reported to be toxic to all tissues of animals, cadmium-induced malformations in eyes of fish have not
V. Pragatheeswaran; B. Loganathan; R. Natarajan; V. K. Venugopalan
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…
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
Summary An 11-year-old girl was operated on for a frontal arteriovenous malformation in 1978; a postoperative carotid angiogram showed no filling of the AVM. The patient still had epilepsy. In 1981 a carotid angiogram showed no AVM. Some months later a new carotid angiography was done. In the first lateral series no AVM was seen but on the second injection
M. Porras; A. Servo; J. Jääskinen
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.
Rangarajan, R. D.; Moloney, J. C.; Anderson, H. J. [Eastbourne District General Hospital, Department of Radiology (United Kingdom)], E-mail: Hugh.Anderson@esht.nhs.uk
Anorectal malformation (ARM) can be divided in high, intermediate, and low forms according to the level of termination of the rectum in relation to the pubococcygeal and ischiatic lines. Patients with Down's syndrome have a high incidence of gastrointestinal anomalies, such as tracheoesophageal fistula, duodenal obstruction, annular pancreas, Hirschsprung's disease, and ARM. In these children, ARM is generally low with
Anthony S. de Buys Roessingh; Claudia Mueller; Chad Wiesenauer; Arié L. Bensoussan; Mona Beaunoyer
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
Lira, C; Hernández, G; Bolaños, J A
A midline exploratory laparotomy on a 1-year-old, neutered male, West Highland terrier with a history of lethargy, anorexia, and intermittent vomiting revealed a cranial abdominal cyst. The lining of the excised cyst was histologically identical with that of the small intestine and may have represented an uncommon intestinal malformation.
Cooper, Johanna C.
Background: Congenital cystic adenomatoid malformation of the lung (CCAM) is an embryonic developmental anomaly of an unknown etiology usually diagnosed antenatally by imaging techniques. A minority of cases may not be identified by prenatal imaging techniques and may go unnoticed for the first 6 months of their extrauterine life. Due to its rarity, physicians are unlikely to suspect the condition.
Manel Luján; Montserrat Bosque; Rosa M. Mirapeix; M. Teresa Marco; Oscar Asensio; Christian Domingo
The Northern Prairie Wildlife Research Center (NPWRC) has posted several more resources online. This article introduces readers to The North American Reporting Center for Amphibian Malformations and discusses availability and uses of the Center's databases and resources. The resource may be browsed online or downloaded as a .zip file.
Fowle, Suzanne C.; Johnson, Douglas H.; Jundt, Jeffrey A.
While congenital malformations of the genital tract are not common, the sequelae of their presence can be serious. The practising gynaecologist must be aware of the range of congenital abnormalities that may occur and the symptoms that may result from them. Failure to manage these patients correctly may have long-term sequelae for their psychological, sexual and reproductive health. The involvement
D. Keith Edmonds
Seven subjects with Chiari I malformations and seizures (four males, three females; age range 11 years, 7 months to 36 years; mean, 22.28 ± 7.58 years; median, 21) were identified in four different centers from among a group of 10 patients. Our aim was to analyze clinical and electroencephalographic characteristics of seizures in this etiologically homogeneous group of patients. Most
Maurizio Elia; Roberto Biondi; Vito Sofia; Sebastiano A. Musumeci; Raffaele Ferri; Giuseppe Capovilla; Paolo Curatolo
Purely extradural lumbar spinal arteriovenous malformations (AVMs) are rare lesions that have diverse presentations and imaging features. The treatment of a symptomatic high flow paraspinal AVM with multiple feeders remains a challenge. We report the first use of an Ascent balloon (dual lumen balloon catheter) to deliver Onyx with excellent penetration to a paraspinal AVM. PMID:23543731
Martínez-Galdámez, Mario; Rodriguez-Arias, Carlos A; Utiel, Elena; Arreba, Emilio; Gonzalo, Miguel; Arenillas, Juan F
From an observation of in utero suspected myelomeningocele, the authors underline interest of pattern of cholinesterases using acrylamide gel electrophoresis. The AChE isoenzyme band appears in some fetal malformations, particularly NTD. This biochemical test is considered as complementary of the AF alpha-fetoprotein assay. PMID:7276919
Guibaud, S; Simplot, A; Bonnet, M; Fara, J F; Thoulon, J M; Dumont, M; Guibaud, P; Robert, J M
Colobomatous cyst of the orbit is a rare congenital cystic malformation associated with ocular maldevelopment. Usually, the cyst is associated with a microphthalmic globe. We present a rare case of a unilateral large colobomatous cyst associated with a normal-sized globe, giving the appearance of a double globe on imaging.
Kim, Usha R; Arora, Vipul; Shah, Akash D; Srinivasan, KG
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.
Seo, Kyung Jin; Kim, Jin; Sohn, In Sook; Kwon, Han Sung; Park, Sang Woo
Abstract ,Genital malformations constitute the most common,birth defects encountered in man,and domes- tic animals. They occur more ,frequently in genetic males since the participation of many genes is required for sex differentiation to proceed in the male direction. The emerging insight, through the identification of genes involved in the sex differentiation cascade, is that over 85 percent of sex anomalies
P. K. Basrur; V. R. Basrur
Background: We present our experience over a 10-year period of staged radiosurgery for large arteriovenous malformations (AVMs) including patient outcomes and methods. Methods: From July 2000 to December 2010, 80 patients with AVMs were treated with gamma knife radiosurgery (GKS) at our institution; of these patients, 5 were treated for large AVMs with staged GKS (volumes >20 cm3). The mean
Kwame Amponsah; Thomas L. Ellis; Michael D. Chan; J. Daniel Bourland; Stephen S. Glazier; Kevin P. McMullen; Edward G. Shaw; Stephen B. Tatter
BACKGROUND AND PURPOSE: Conventional catheter angiography (CCA) is the current reference standard for the diagnosis, assessment, and management of pial brain arteriovenous malformations (AVMs). The purpose of this study was to develop an MR angiographic tech- nique that produces dynamic images comparable to those provided by CCA and to apply the technique to the investigation of pial brain AVMs. METHODS:
Paul D. Griffiths; Nigel Hoggard; Daniel J. Warren; Iain D. Wilkinson; Bob Anderson; Charles A. Romanowski
Acquired cerebellar lesions in adults and children can lead to the development of a complex behavioural pattern termed 'Cerebellar Cognitive Affective Syndrome' (Schmahmann and Sherman, Brain, 1998; 121: 561-79), which is characterized by reduced cognitive efficiency associated with specific neuropsychological deficits (executive and visuospatial disorders), expressive language disorders (mild agrammatism and anomia) and affective disorders with blunting of affect. It is not known whether a symptomatological picture such as this can also be found in congenital cerebellar malformations. We studied the behavioural developmental profile of 27 patients including children and adults with congenital malformations confined to the cerebellum, the largest studied sample to date. Extensive clinical and neuropsychological investigations highlight the presence of a wide range of disorders supporting the important role played by the cerebellum in the acquisition of higher-order cognitive and affective skills. The type and extent of cerebral reorganization processes in the presence of malformative lesions are difficult to predict and may possibly account for the variability of clinical phenotypes. It is, therefore, more difficult to identify a syndromic picture defined as exactly as is the case with acquired lesions. However, the pattern of deficits that we document is in remarkable agreement with the general profile of the Cerebellar Cognitive Affective Syndrome. Malformations affecting the cerebellar vermis induce affective and social disorders and evolve towards more unfavourable pictures often associated with an autistic symptomatology. Malformations of cerebellar hemispheres are more frequently associated with selective neuropsychological deficits involving mainly executive functions and visuospatial and linguistic abilities. Motor deficits are generally less severe, and tend to improve slowly and progressively, in some cases reaching almost complete functionality. Finally, the overall favourable evolution with an onset of skills in advanced age in a consistent subset of subjects suggests that individual follow-ups should be performed in order to monitor the quality and stability of impairments and acquired abilities over time. PMID:17872929
Tavano, Alessandro; Grasso, Rita; Gagliardi, Chiara; Triulzi, Fabio; Bresolin, Nereo; Fabbro, Franco; Borgatti, Renato
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.
VanderMeer, Julia E.; Ahituv, Nadav
Congenital pulmonary malformations represent a heterogeneous group of developmental disorders affecting the lung parenchyma, the arterial supply to the lung, and the lung's venous drainage. In both asymptomatic and symptomatic pediatric patients with congenital pulmonary malformations, the diagnosis of such malformations usually requires imaging evaluation, particularly in cases of surgical lesions for preoperative assessment. The goal of this article is to review the current imaging techniques for evaluating congenital pulmonary malformations and their characteristic imaging findings, which can allow differentiation among various congenital pulmonary malformations in pediatric patients. PMID:21889015
Lee, Edward Y; Dorkin, Henry; Vargas, Sara O
The pathogenesis of Chiari malformation Type I (CM-I) and associated syringomyelia is incompletely understood. Patients often present in middle age with incidental or minimally symptomatic CM-I, whose management is controversial. One option is clinical and radiographic observation of asymptomatic and minimally symptomatic patients. The authors here present the case of a 36-year-old woman who had been monitored for 6 years for a minimally symptomatic CM-I and cervicothoracic syrinx. After 5 years of follow-up, she suffered spontaneous rupture of a cerebral cavernous malformation when she was 27 weeks pregnant. The ruptured cavernous malformation and hematoma were operatively managed via a right frontal craniotomy. Ten months after the craniotomy for resection of the ruptured cavernous malformation, follow-up MRI demonstrated resolution of the CM-I and syrinx. Few similar cases have been reported in adults. This case argues for the presence of dynamic factors in the development and maintenance of CM-I and supports the nonoperative treatment of asymptomatic and minimally symptomatic patients. PMID:22324421
Miele, William R; Schirmer, Clemens M; Yao, Kevin C; Heilman, Carl B
In this paper the problem of human ear detection in the thermal infrared (IR) spectrum is studied in order to illustrate the advantages and limitations of the most important steps of ear-based biometrics that can operate in day and night time environments. The main contributions of this work are two-fold: First, a dual-band database is assembled that consists of visible and thermal profile face images. The thermal data was collected using a high definition middle-wave infrared (3-5 microns) camera that is capable of acquiring thermal imprints of human skin. Second, a fully automated, thermal imaging based ear detection method is developed for real-time segmentation of human ears in either day or night time environments. The proposed method is based on Haar features forming a cascaded AdaBoost classifier (our modified version of the original Viola-Jones approach1 that was designed to be applied mainly in visible band images). The main advantage of the proposed method, applied on our profile face image data set collected in the thermal-band, is that it is designed to reduce the learning time required by the original Viola-Jones method from several weeks to several hours. Unlike other approaches reported in the literature, which have been tested but not designed to operate in the thermal band, our method yields a high detection accuracy that reaches ~ 91.5%. Further analysis on our data set yielded that: (a) photometric normalization techniques do not directly improve ear detection performance. However, when using a certain photometric normalization technique (CLAHE) on falsely detected images, the detection rate improved by ~ 4%; (b) the high detection accuracy of our method did not degrade when we lowered down the original spatial resolution of thermal ear images. For example, even after using one third of the original spatial resolution (i.e. ~ 20% of the original computational time) of the thermal profile face images, the high ear detection accuracy of our method remained unaffected. This resulted also in speeding up the detection time of an ear image from 265 to 17 milliseconds per image. To the best of our knowledge this is the first time that the problem of human ear detection in the thermal band is being investigated in the open literature.
Abaza, Ayman; Bourlai, Thirimachos
The finite element (FE) model of the human ear has been developed to analyze the middle ear and cochlea function in relation to the ear structures. However, the energy absorbance or energy reflectance used in the research and clinical audiology test has not been reported in the FE model. The relationship between the middle ear structure and the energy absorbance (EA) needs to be identified using the FE model. In this study, a FE model of the human ear, including the ear canal, the middle ear and the spiral cochlea constructed from the histological sections of a human temporal bone, was used to calculate EA. The viscoelastic material properties were applied to the middle ear soft tissues. Three middle ear disorders were simulated in the FE model: otitis media, otosclerosis, and ossicular chain disarticulation. Multi-physics (acoustic, structure, and fluid) coupled analysis was conducted in the model. The FE model was first validated with the published experimental data on the middle ear input impedance and EA of the normal ear. The EA in three disordered ears was obtained from the model and compared with the published results measured in the clinics and the temporal bone experiments. The consistence of the model-derived EA with the published data demonstrates that the FE model is feasible to analyze EA. The effects of middle ear pressure, middle ear effusion, and mechanical properties of soft tissues on EA were estimated and discussed. This article is part of a special issue entitled "MEMRO 2012". PMID:23274858
Zhang, Xiangming; Gan, Rong Z
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.
Lv, Ming-ming, E-mail: email@example.com [Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Department of Oral and Maxillofacial Surgery, Shanghai Key Laboratory of Stomatology (China)] [Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Department of Oral and Maxillofacial Surgery, Shanghai Key Laboratory of Stomatology (China); Fan, Xin-dong, E-mail: firstname.lastname@example.org [Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Department of Radiology (China)] [Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Department of Radiology (China); Su, Li-xin, E-mail: email@example.com [Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Department of Oral and Maxillofacial Surgery, Shanghai Key Laboratory of Stomatology (China)] [Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Department of Oral and Maxillofacial Surgery, Shanghai Key Laboratory of Stomatology (China)
Deep drawing of a cylindrical cup from a rolled sheet is one of the typical forming operations where the effect of this anisotropy is most evident. Indeed, it is well documented in the literature that the number of ears and the shape of the earing pattern correlate with the r-values profile. For the strongly textured aluminum alloy AA 5042 (Numisheet Benchmark 2011), the experimental r-value distribution has two minima between the rolling and transverse direction data provided for this show that the r-value along the transverse direction (TD) is five times larger than the value corresponding to the rolling direction. Therefore, it is expected that there are more that the earing profile has more than four ears. The main objective of this paper is to assess whether a new form of CPB06ex2 yield function (Plunkett et al. (2008)) tailored for metals with no tension-compression asymmetry is capable of predicting more than four ears for this material.
Yoon, J. H.; Cazacu, O.
The aim of our investigations was to characterize fungal colonization of the ear in immunocompetent patients. From 1993 to 2000, 128 patients supposed to suffer from otomycosis were included. Mycological examination conducted by direct microscopy and fungal cultures was performed on 139 specimens. Among these, 115 patients suffered from chronic otitis media with persisting tympanum perforation and otorrhea. A further 13 patients had clinical signs of an otitis externa only. Out of 139 samples, fungi were identified in the auditory canal (n = 54), on the tympanic membrane (n = 5), and in the middle ear (n = 5). Two-thirds were as moulds and one-third yeasts. The dominating species were Aspergillus niger and Candida parapsilosis. Samples from 15 patients supposed to have mastoiditis or cholesteatoma were examined histologically. Fungal hyphae were observed in the middle ear cavity and/or between horny lamellae of cholesteatoma in four patients. In the middle ear of immunocompetent patients chronic-hyperplastic (polypoid) inflammation was detected with increased production of mucus, which probably promotes colonization by pathogenic fungi in the middle ear as well as in the auditory canal. Invasive fungal growth into the subepithelial connective tissue was not observed. PMID:12588477
Vennewald, I; Schönlebe, J; Klemm, E
The external ear is a location with high risk of keloid scar formation. Its incidence is growing since general use of piercings and performance of plastic surgery of the external ear. The external ear keloid can be a devasting process for adolescent population which is worried about their appearance. Our aim is to attract attention about the risk of keloid scars of the external ear, reviewing our experience. After dismissing radiotherapy, corticoid infiltration and surgical removal are the most used options, with a high recurrence risk. We have reviewed traumatic, surgical and piercing wounds of the external ear, with a subsequent keloid formation treated in our outpatient clinic, collecting data about wound etiology, treatment and results. During the last 10 years we have found 11 keloid scars, 2 of them improved with topical corticosteroid. Treatment has been surgical in 9 cases, 4 of them with skin graft: 5 recovered and 4 recurred; 2 of them were reoperated. 2 of them were treated with intralesional corticosteroid solely, one recovered and the other one had improved. Treatment management of keloid scars is complex and there isn't a procedure with superior results than the others. Risk of complication must be explained within adolescent population. PMID:24783642
Bejarano Serrano, M; Parri Ferrandis, F J; García Smith, N I; Martínez-Herrada, S; Manzanares Quintela, A; Albert Cazalla, A
Investigations for co-occurring malformations can serve as a first step to discover new risk factors and provide insights into malformation etiologies. Our objective was to explore the risks of occurrence of structural congenital malformation phenotypes in 5,481 infants with hypospadias, using data from a population-based active surveillance system. Ascertainment was performed among 1,816,258 liveborn and 12,203 stillborn male offspring of women who were residents of registry counties during 1983-1997. Malformations other than hypospadias were grouped according to the 3- and 4-digit BPA malformation codes. Prevalences of each malformation grouping were calculated among all births with hypospadias and their three subgroups and all births without hypospadias but with another structural malformation. Relative risks were estimated based on the ratio of two prevalences, and the corresponding 95% confidence intervals were computed using Poisson regression models. Observed relative risks indicated that all malformation groupings were less likely to co-occur with hypospadias and their three subgroups than with other types of malformations, with relative risks ranging from 0.04 to 0.93. For most malformations, risks were relatively similar among all births with hypospadias and the three subgroups of hypospadias. The observed relative risks were not substantially changed in analyses that adjusted for maternal age, race/ethnicity, and parity. Computations were extended to 4-digit level BPA codes. Almost all observed relative risks for malformations co-occurring with hypospadias overall and three subgroups were less than 1. PMID:17937439
Yang, Wei; Carmichael, Suzan L; Shaw, Gary M
This report describes relationships between middle-ear measurements of acoustic admittance and energy reflectance (YR) and measurements of hearing status using visual reinforcement audiometry in a neonatal hearing-screening population. Analyses were performed on 2638 ears in which combined measurements were obtained [Norton et al., Ear Hear. 21, 348-356 (2000)]. The measurements included distortion-product otoacoustic emissions (DPOAE), transient evoked otoacoustic emissions (TEOAE), and auditory brainstem responses (ABR). Models to predict hearing status using DPOAEs, TEOAEs, or ABRs were each improved by the addition of the YR factors as interactions, in which factors were calculated using factor loadings from Keefe et al. [J. Acoust. Soc. Am. 113, 389-406 (2003)]. This result suggests that information on middle-ear status improves the ability to predict hearing status. The YR factors were used to construct a middle-ear dysfunction test on 1027 normal-hearing ears in which DPOAE and TEOAE responses were either both present or both absent, the latter condition being viewed as indicative of middle-ear dysfunction. The middle-ear dysfunction test classified these ears with a nonparametric area (A) under the relative operating characteristic curve of A=0.86, and classified normal-hearing ears that failed two-stage hearing-screening tests with areas A=0.84 for DPOAE/ABR, and A=0.81 for TEOAE/ABR tests. The middle-ear dysfunction test adequately generalized to a new sample population (A=0.82).
Keefe, Douglas H.; Gorga, Michael P.; Neely, Stephen T.; Zhao, Fei; Vohr, Betty R.
Vertebrate hearing and balance are based in complex asymmetries of inner ear structure. Here, we identify retinoic acid (RA) as an extrinsic signal that acts directly on the ear rudiment to affect its compartmentalization along the anterior-posterior axis. A rostrocaudal wave of RA activity, generated by tissues surrounding the nascent ear, induces distinct responses from anterior and posterior halves of the inner ear rudiment. Prolonged response to RA by posterior otic tissue correlates with Tbx1 transcription and formation of mostly nonsensory inner ear structures. By contrast, anterior otic tissue displays only a brief response to RA and forms neuronal elements and most sensory structures of the inner ear. PMID:21173260
Bok, Jinwoong; Raft, Steven; Kong, Kyoung-Ah; Koo, Soo Kyung; Dräger, Ursula C; Wu, Doris K
The pertinent clinical literature concerning the research project is reviewed. The middle ear of guinea pigs was first damaged on one side (inflicting a subtotal perforation of the tympanic membrane, dislocation of the incudo-stapedial joint followed by otitis media) and the animals were then exposed to a specified narrow-band noise. The induced inner ear changes were quantified by means of cochleographic studies using the surface specimen technique. In spite of the inner ear changes due to middle ear manipulation prior to the noise exposure, the cochleographic studies revealed an obvious protective effect of the induced middle ear changes upon the inner ear during noise exposure. PMID:138031
A case study of clinical practice in children with glue ear is presented. The case is part of a larger project, funded by the North Thames Research and Development Programme, that sought to explore the part played by clinicians in the implementation of research and development into practice in two areas: adult asthma and glue ear in children. What is striking about this case is the differences found in every area of the analysis. That is, diversity was found in views about diagnosis and treatment of glue ear; the organisation of related services; and in the reported practice of our interviewees, both between particular groupings of clinical staff and within these groupings. The challenge inherent in the case is to go beyond describing the complexity and differences that were found, and look for patterns in the accounts of practice and tease out why such patterns may occur. PMID:10557674
Dopson, S; Miller, R; Dawson, S; Sutherland, K
Blood pressure (BP) measurement and BP control are important for the prevention of lifestyle diseases, especially hypertension, which can lead to more serious conditions, such as cardiac infarction and cerebral apoplexy. The purpose of our study is to develop a ubiquitous blood pressure sensor that is more comfortable and less disruptive of users’ daily activities than conventional blood pressure sensors. Our developed sensor is worn at an ear orifice and measures blood pressure at the tragus. This paper describes the concept, configuration, and the optical and electronic details of the developed ear-worn blood pressure sensor and presents preliminary evaluation results. The developed sensor causes almost no discomfort and produces signals whose quality is high enough for detecting BP at an ear, making it suitable for ubiquitous usage.
Koizumi, Hiroshi; Shimada, Junichi; Uenishi, Yuji; Tochikubo, Osamu
To realize the ubiquitous eating habits monitoring, we proposed the use of sounds sensed by an in-ear placed wireless wearable microphone. A prototype of wireless wearable in-ear microphone was developed by utilizing a common Bluetooth headset. We proposed a robust chewing action recognition algorithm which consists of two recognition stages: “chew-like” signal detection and chewing sound verification stages. We also provide empirical results on other action recognition using in-ear sound including swallowing, cough, belch, and etc. The average chewing number counting error rate of 1.93% is achieved. Lastly, chewing sound mapping is proposed as a new prototypical approach to provide an additional intuitive feedback on food groups to be able to infer the eating habits in their daily life context.
Nishimura, Jun; Kuroda, Tadahiro
In this article, a beamformer is proposed as a functional model for the spatial and temporal filtering characteristics of the external ear. The output of a beamformer is a weighted combination of the data received at an array of spatially distributed sensors. The beamformer weights and array geometry determine its spatial and temporal filtering characteristics. A procedure is described for choosing the weights to minimize the mean-squared error between the beamformer response and the measured response of the external ear. The effectiveness of the model is demonstrated by designing a beamformer of several hundred weights that duplicates and interpolates the measured external ear response of a cat over broad ranges of frequency and direction. A limited investigation of modeling performance as a function of array geometry is reported. PMID:1401538
Chen, J; Van Veen, B D; Hecox, K E
Vibrations of the middle ear ossicles are easily measured by means of laser vibrometry. However, laser vibrometry requires free visual access to the object under investigation, and acquiring free visual access to the ossicles through the ear canal requires the removal of the tympanic membrane (TM), with the result that the ossicles can no longer be stimulated acoustically. To overcome this, we devised a new setup in which the ossicles can be driven magnetically. After measuring the response of the TM to an acoustic signal, we then remove it and attach a small magnet to the exposed manubrium (a part of the most lateral auditory ossicle, the malleus, which is normally attached to the TM). An electromagnetic excitation coil is then used to drive the magnet, and the output to the coil adjusted until the vibration of the manubrium, as measured by the vibrometer, matches that measured in response to the acoustic signal. Such a setup may have uses in research on middle ear mechanics, such as the measurement of nonlinearities in their response, as well as applications in the diagnosis of middle ear conditions such as the fixation of the ossicles by otosclerosis or in chronic otitis media. We describe our setup and discuss the viability of our method and its future clinical potential by presenting some measurements on an artificially fixated ear.
Peacock, J.; von Unge, M.; Dirckx, J.
Vibrations of the middle ear ossicles are easily measured by means of laser vibrometry. However, laser vibrometry requires free visual access to the object under investigation, and acquiring free visual access to the ossicles through the ear canal requires the removal of the tympanic membrane (TM), with the result that the ossicles can no longer be stimulated acoustically. To overcome this, we devised a new setup in which the ossicles can be driven magnetically. After measuring the response of the TM to an acoustic signal, we then remove it and attach a small magnet to the exposed manubrium (a part of the most lateral auditory ossicle, the malleus, which is normally attached to the TM). An electromagnetic excitation coil is then used to drive the magnet, and the output to the coil adjusted until the vibration of the manubrium, as measured by the vibrometer, matches that measured in response to the acoustic signal. Such a setup may have uses in research on middle ear mechanics, such as the measurement of nonlinearities in their response, as well as applications in the diagnosis of middle ear conditions such as the fixation of the ossicles by otosclerosis or in chronic otitis media. We describe our setup and discuss the viability of our method and its future clinical potential by presenting some measurements on an artificially fixated ear. PMID:24387412
Peacock, J; von Unge, M; Dirckx, J
Epizootic outbreaks of congenital malformations in sheep are rare and have, to the best of our knowledge, never been reported before in Europe. This paper describes relevant preliminary findings from the first epizootic outbreak of ovine congenital malformations in the Netherlands. Between 25 November and 20 December 2011, congenital malformations in newborn lambs on sheep farms throughout the country were reported to the Animal Health Service in Deventer. Subsequently, small ruminant veterinary specialists visited these farms and collected relevant information from farmers by means of questionnaires. The deformities varied from mild to severe, and ewes were reported to have given birth to both normal and deformed lambs; both male and female lambs were affected. Most of the affected lambs were delivered at term. Besides malformed and normal lambs, dummy lambs, unable to suckle, were born also on these farms. None of the ewes had shown clinical signs during gestation or at parturition. Dystocia was common, because of the lambs' deformities. Lambs were submitted for post-mortem examination, and samples of brain tissue were collected for virus detection. The main macroscopic findings included arthrogryposis, torticollis, scoliosis and kyphosis, brachygnathia inferior, and mild-to-marked hypoplasia of the cerebrum, cerebellum and spinal cord. Preliminary data from the first ten affected farms suggest that nutritional deficiencies, intoxication, and genetic factors are not likely to have caused the malformations. Preliminary diagnostic analyses of precolostral serum samples excluded border disease virus, bovine viral diarrhoea virus, and bluetongue virus. In December 2011, samples of brain tissue from 54 lambs were sent to the Central Veterinary Institute of Wageningen University Research, Lelystad. Real-time PCR detected the presence of a virus, provisionally named the Schmallenberg virus, in brain tissue from 22 of the 54 lambs, which originated from seven of eight farms that had submitted lambs for post-mortem examination. This Schmallenberg virus was first reported in Germany and seems to be related to the Shamonda, Aino, and Akabane viruses, all of which belong to the Simbu serogroup of the genus Orthobunyavirus of the family Bunyaviridae. These preliminary findings suggest that the Schmallenberg virus is the most likely cause of this epizootic of ovine congenital malformations, which is the first such outbreak reported in Europe. PMID:22393844
van den Brom, R; Luttikholt, S J M; Lievaart-Peterson, K; Peperkamp, N H M T; Mars, M H; van der Poel, W H M; Vellema, P
The influence of Eustachian tube (ET) dysfunction on the inner ear fluid pressure and thus on the inner ear function in Meniere's disease has been discussed controversially. So far, most of the studies examining ET function in inner ear disorders indirectly analyzed ET function by tympanometric methods. The present study directly studied ET function in inner ear disorders by sonotubometry. Healthy subjects and patients with Meniere's disease, sudden sensorineural hearing loss, cholesteatoma and chronic suppurative otitis media were examined by sonotubometry. Mean increase of sound pressure intensity (dB) and mean duration of sound pressure increase (s) were analyzed. Highest mean increase of sound pressure intensity was seen in healthy subjects when using >5 dB peaks (11.6 ± 0.7 dB) and >0 dB peaks (9.6 ± 0.6 dB). Comparative analysis including bilateral ears showed decreased ET function in patients with cholesteatoma (p = 0.002) and in patients with Meniere's disease (p = 0.003) when using >0 dB peaks. Examination of each specific ET opening maneuver showed impaired ET function in pathological ears of patients with cholesteatoma and with Meniere's disease, during yawning (p = 0.001; p < 0.001), dry swallowing (p = 0.010; p = 0.049), Toynbee maneuver (p = 0.033; p = 0.032) and drinking (p = 0.044; p = 0.027). Mild ET dysfunction is detected in patients with Meniere's disease by direct sonotubometric assessment of ET function. PMID:22941437
Park, Jonas J-H; Luedeke, Inger; Luecke, Kerstin; Emmerling, Oliver; Westhofen, Martin
The ion channel genome is still being defined despite numerous publications on the subject. The ion channel transcriptome is even more difficult to assess. Using high-throughput computational tools, we surveyed all available inner ear cDNA libraries to identify genes coding for ion channels. We mapped over 100,000 expressed sequence tags (ESTs) derived from human cochlea, mouse organ of Corti, mouse and zebrafish inner ear, and rat vestibular end organs to Homo sapiens, Mus musculus, Danio rerio, and Rattus norvegicus genomes. A survey of EST data alone reveals that at least a third of the ion channel genome is expressed in the inner ear, with highest expression occurring in hair cell-enriched mouse organ of Corti and rat vestibule. Our data and comparisons with other experimental techniques that measure gene expression show that every method has its limitations and does not per se provide a complete coverage of the inner ear ion channelome. In addition, the data show that most genes produce alternative transcripts with the same spectrum across multiple organisms, no ion channel gene variants are unique to the inner ear, and many splice variants have yet to be annotated. Our high-throughput approach offers a qualitative computational and experimental analysis of ion channel genes in inner ear cDNA collections. A lack of data and incomplete gene annotations prevent both rigorous statistical analyses and comparisons of entire ion channelomes derived from different tissues and organisms. Electronic supplementary material The online version of this article (doi:10.1007/s10162-007-0082-y) contains supplementary material, which is available to authorized users.
Sokolowski, Bernd H.A.; Morton, Cynthia C.; Giersch, Anne B.S.
Sensory epithelia of the inner ear contain two major cell types: hair cells and supporting cells. It has been clear for a long time that hair cells play critical roles in mechanoreception and synaptic transmission. In contrast, until recently the more abundant supporting cells were viewed primarily as serving primarily structural and homeostatic functions. In this review we discuss the growing information about the roles that supporting cells play in the development, function and maintenance of the inner ear, their activities in pathological states, their potential for hair cell regeneration, and the mechanisms underlying these processes.
Wan, Guoqiang; Corfas, Gabriel; Stone, Jennifer S
Lupus vulgaris is the most common morphological variant of cutaneous tuberculosis. Classical lupus lesions are often seen in the head and neck region. Turkey ear is a clinically descriptive term, previously being used for the earlobe with reddish indurated plaque lesions, which recently can be a sign for lupus vulgaris. A 65-year-old man presented with lupus vulgaris of the earlobe. The diagnosis was confirmed by conventional laboratory investigations and the patient showed well response to antituberculous therapy. This is the second reported case of “turkey ear” as a manifestation of cutaneous tuberculosis.
Kucukunal, Asl?; Ekmekci, Tugba R; Sak?z, Damlanur
Lupus vulgaris is the most common morphological variant of cutaneous tuberculosis. Classical lupus lesions are often seen in the head and neck region. Turkey ear is a clinically descriptive term, previously being used for the earlobe with reddish indurated plaque lesions, which recently can be a sign for lupus vulgaris. A 65-year-old man presented with lupus vulgaris of the earlobe. The diagnosis was confirmed by conventional laboratory investigations and the patient showed well response to antituberculous therapy. This is the second reported case of "turkey ear" as a manifestation of cutaneous tuberculosis. PMID:23248385
Küçükünal, Asl?; Ekmekçi, Tu?ba R; Sak?z, Damlanur
Multiple congenital malformations in a young girl with bilateral conductive hearing loss are described. Facial dysmorphic features include prominent supraorbital ridges, facial hypoplasia, facial asymmetry, downward-slanting palpebral fissures, high prominent nasal bridge with bifid nasal tip and a small lower jaw, and hypoplastic ear lobules with bilaterally narrow and oblique external auditory canals. Recognisable skeletal abnormalities include hypoplastic facial bones, hypoplastic clavicles, narrow and anteriorly sloping shoulders, bowing of both forearm bones, brachydactyly due to short metacarpals and hypoplastic terminal phalanges, thoracolumbar kyphoscoliosis, narrow transverse measurements of most vertebrae with prominent coccyx, spinal canal narrowing, hypoplasia of lower ilia, medially bowed femora, tibiae and fibulae and brachysyndactyly of the second, third and fourth toes bilaterally. Gynaecological evaluation revealed abnormalities of the Mullerian duct structures: urogenital sinus, a vestigial uterus, a posteriorly placed small but patent vagina and a septum at the vaginal introitus. The pattern of MCA probably refers to a new syndrome within the "community of syndromes" involving anomalies of the Mullerian duct structures, limbs, spine and external ears. PMID:9272710
Kumar, D; Masel, J P
Abernethy malformation is a rare anomaly of the splanchnic venous system. We report a case of an unusual portosystemic shunt via a dilated inferior mesenteric vein. A 20-year-old woman was referred to our hospital with complains of nonspecific abdominal pain for almost 3 years and hematochezia since 15 months old. Computed tomography and further transhepatic splenoportography revealed a hypoplastic portal vein and a giant inferior mesenteric vein, via which part of the portal venous blood drained into the inferior vena cava. The patient underwent a surgical ligation of the portocaval shunt and recovered well. We believe that this is the first case of type II Abernethy malformation presenting as a portosystemic shunt via the giant inferior mesenteric vein. PMID:24530574
Lu, Jingbo; Lin, Zhiqi; Liu, Hao; Liu, Zhengjun
Arteriovenous malformations (AVMs) of the jaws are relatively rare, with fewer than 200 cases reported in the literature. Their real importance lies in their potential to result in exsanguination, which usually follows an unrelated treatment, such as tooth extraction, surgical intervention, puncture wound or blunt injury in involved areas, with the dentist unaware of the existence of the AVM. The present case illustrates an AVM in an 18-year-old female with swelling on the right side of the face. This case report is unique because although there was no history of bleeding episodes, thorough examination and investigation diagnosed it as high-flow vascular malformation. We ascertain the importance of dentists' awareness of the fatal outcome of these lesions and emphasize that, prior to performing any procedure, necessary investigations should always be done. PMID:22282511
Shailaja, S R; Manika; Manjula, M; Kumar, L V
Arteriovenous malformations (AVMs) of the jaws are relatively rare, with fewer than 200 cases reported in the literature. Their real importance lies in their potential to result in exsanguination, which usually follows an unrelated treatment, such as tooth extraction, surgical intervention, puncture wound or blunt injury in involved areas, with the dentist unaware of the existence of the AVM. The present case illustrates an AVM in an 18-year-old female with swelling on the right side of the face. This case report is unique because although there was no history of bleeding episodes, thorough examination and investigation diagnosed it as high-flow vascular malformation. We ascertain the importance of dentists' awareness of the fatal outcome of these lesions and emphasize that, prior to performing any procedure, necessary investigations should always be done.
Shailaja, S R; Manika; Manjula, M; Kumar, L V
In this video, we illustrate a right far-lateral craniotomy for resection of a 13-mm cavernous malformation of the pons in a healthy 53-year-old female patient presenting with diplopia and right 6th nerve palsy. The cavernous malformation was surrounded by normal pons, but was within 1 mm of the pontomedullary sulcus. The lesion was exposed from below through a far lateral craniotomy and accessed through the vasoaccessory triangle, superior to olivary nucleus and 12th cranial nerve. The alternative retrosigmoid craniotomy would have involved significant transgression of the middle cerebellar peduncle. The patient had gross-total resection and some temporary increase in her abducens nerve palsy without any complication. The video can be found here: http://youtu.be/8nOnrnTk3Tg . PMID:24380516
Abla, Adib Adnan; Clark, Aaron J; Lawton, Michael L
Objective\\u000a In patients with non-traumatic subarachnoid hemorrhage (SAH) and no evidence for a cerebral aneurysm on angiography, a frequent\\u000a cause of the hemorrhage is perimesencephalic hemorrhage or other cerebral vascular pathology. In some patients no cause is\\u000a found. The exact incidence of a spinal vascular malformation (SVM) as the origin for the SAH is not known. We assessed the\\u000a occurrence
M. R. Germans; F. A. Pennings; M. E. S. Sprengers; W. P. Vandertop
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.
Przybojewski, Stefan J., E-mail: firstname.lastname@example.org; Sadler, David J. [University of Calgary, Diagnostic Imaging Department, Foothills Hospital (Canada)
During an 8-year period, facial defects were observed in 146 (7%) of the 2,086 fetuses that underwent karyotyping in our unit because of fetal malformations and\\/or growth retardation. Chromosomal abnormalities were detected in 37 of 56 (66%) fetuses with micrognathia, in 10 of 13 (77%) with macroglossia, in 31 of 64 (48 %) with cleft lip and palate, in 5
K. H. Nicolaides; D. R. Salvesen; R. J. M. Snijders; C. M. Gosden
The authors report their experience on one patient with hypersexuality from resection of left occipital arteriovenous malformation.\\u000a To the best of our knowledge, this is the first case reported in the literature. A 35-year-old right-handed female farmer\\u000a suffered a sudden left occipital hemorrhage with subarachnoid and subdural hemorrhages of the left hemisphere. Transient left\\u000a uncal herniation occurred at the onset
Yong Cao; Zhaohui Zhu; Rong Wang; Shuo Wang; Jizong Zhao
We present a polysomnogram-documented report of central sleep apnea (427 events) and moderately severe decreases in arterial oxygen saturation (to 81%) associated with the Arnold-Chiari malformation (ACM). Daytime hypersomnolence and other symptoms had significantly impaired our patient's work performance. After surgical correction of the ACM, there was marked improvement in symptomatology. A post-surgery polysomnogram revealed marked improvement in the number of central apneas (74 events) and only mild decreases in oxygen saturation (to 94%). PMID:4051328
Balk, R A; Hiller, F C; Lucas, E A; Scrima, L; Wilson, F J; Wooten, V
Background\\/Purpose: Patients with esophageal atresia (EA) often have skeletal malformations. The purpose of this study is to examine if similar defects occur in rat fetuses prenatally exposed to Adriamycin, a chemical capable of causing EA in these animals.Methods: The charts of 443 babies with EA were reviewed to assess the incidence and nature of these defects in them. Time-mated female
Huimin Xia; Lucia Migliazza; Sandra Montedonico; Jose I. Rodriguez; Juan A. Diez-Pardo; Juan A. Tovar
A 75-year-old woman presented with acute onset dyspnoea, and was found to have signs of pulmonary congestion on clinical examination. Imaging revealed cardiomegaly and coincident congestive hepatopathy, secondary to a left renal arteriovenous malformation. The presence of a high flow vascular shunt in the left kidney was possibly the causative factor behind both the high-output cardiac failure and congestive hepatopathy. PMID:23349173
Khalife, Mohammad; Faraj, Walid; Salah, Fatima; Haydar, Ali A
Anomalies involving the pulmonary vein are so rare that most of them have been reported as a case or a series of several cases. Some of them often simulate pulmonary arteriovenous malformation (AVM), and patients undergo pulmonary angiography for embolization. Herein we report a case of anomalous unilateral single pulmonary vein that was confirmed on pulmonary angiography after initial diagnosis of pulmonary AVM on contrast medium-enhanced chest computed tomography. PMID:23989502
Hyun, Dongho; Do, Young Soo; Lim, Seong Joo; Park, Hong Suk; Park, Kwang Bo
Despite almost a century of efforts in the treatment of brain arteriovenous malformations (BAVMs) no clinical trial has yet\\u000a been performed to demonstrate the benefits of intervention versus conservative (medical) management for those not yet bled.\\u000a Only insufficient information on the natural history of unbled BAVMs exists to certify that intervention is needed and that\\u000a such intervention produces a better
J. P. Mohr
Malformation disease of Mango (Mangifera indica L.) caused by Fusarium moniliforme var. subglutinans is one of the most destructive diseases, which is a major production constraint in the mango-growing regions of India. In this study, The bioagents Trichoderma viride (Tr1), Trichoderma virens (Tr2) and Trichoderma harzianum (Tr3) were evaluated in culture with the pathogens to monitor the antagonistic effect and
Pradeep Kumar; Ashok Kumar Misra; Dinesh Raj Modi; Vijai Kumar Gupta
...CONTINUED) MEDICAL DEVICES EAR, NOSE, AND THROAT DEVICES Therapeutic Devices Â§ 874.5300 Ear, nose, and throat examination...blowing apparatus, and receptacles for connection of specialized lights and examining instruments. (b) Classification....
...CONTINUED) MEDICAL DEVICES EAR, NOSE, AND THROAT DEVICES Therapeutic Devices Â§ 874.5300 Ear, nose, and throat examination...blowing apparatus, and receptacles for connection of specialized lights and examining instruments. (b) Classification....
...120524116-2116-01] RIN 0694-AF70 Revisions to the Export Administration Regulations (EAR): Unverified...Security (BIS) proposes to amend the Export Administration Regulations (EAR) by: requiring exporters to file an Automated Export System (AES) record for all...
...110310188-2058-03] RIN 0694-AF17 Revisions to the Export Administration Regulations (EAR): Export Control Classification Number 0Y521 Series...publishes this final rule, which amends the Export Administration Regulations (EAR) by...
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.).
Renna, Maria Daniela; Pisani, Paola; Conversano, Francesco; Perrone, Emanuele; Casciaro, Ernesto; Renzo, Gian Carlo Di; Paola, Marco Di; Perrone, Antonio; Casciaro, Sergio
The incidence of obesity in pregnancy has increased over the past two decades, with nearly 50% of U.S. women aged 15–49 are classified as overweight or obese. Obesity (independent of diabetes) among gravidae poses unique risks which extend towards the fetus, with several large population-based analyses demonstrating independent increased risks for fetal malformations including neural tube defects, cardiac anomalies, and orofacial clefts as well as stillbirth and macrosomia. Unfortunately, several lines of evidence also suggest that the quality of the prenatal fetal anatomic survey and certain aspects of prenatal diagnostic screening programs are significantly limited. The net effect is that among obese gravidae, the increased risk of fetal anomalies is further offset by a concomitant diminished ability to sonographically detect such malformation in the prenatal interval. The purpose of this summary review is to systematically examine the evidence suggesting an increased risk of fetal malformations in obese gravidae, the contributing role of diabetes, and the limitations of prenatal diagnostic and sonographic screening among this at-risk population.
RACUSIN, Diana; STEVENS, Blair; CAMPBELL, Genevieve; AAGAARD-TILLERY, Kjersti
Peripheral vascular malformations are now described according to some accepted guidelines, and the principle of proper treatment (nidus ablation) is becoming clear. An appropriate classification scheme for vascular anomalies and definite indications for treatment are important to successful treatment overall. The findings from noninvasive imaging (ie, Doppler ultrasonography, computed tomography, or magnetic resonance imaging) in association with clinical findings are critical in establishing the diagnosis, evaluating the extent of the malformation, and planning appropriate treatment. Direct opacification of the nidus is useful, not only in making a correct diagnosis, but also in treating the lesion with sclerotherapy. In most cases, conservative treatment is recommended, but when a patient suffers clinical complications (eg, ulceration, pain, hemorrhage, cardiac failure, or unacceptable cosmetic consequences), the nidus sclerotherapy becomes mandatory. If the vascular malformation has blood outflow to a drainage vein during nidus opacification, flow control (with balloon occlusion, tourniquet, or embolization) is necessary to achieve sclerosant stasis within the nidus. Embolotherapy (with a coil, n-butyl cyanoacrylate, or small particles) should be used for subsequent multifaceted palliative therapy. A multi-disciplinary approach is needed in the treatment of a high-flow lesion, and a dedicated team approach is necessary for appropriate management in most cases. PMID:16227489
Hyodoh, Hideki; Hori, Masakazu; Akiba, Hidenari; Tamakawa, Mitsuharu; Hyodoh, Kazusa; Hareyama, Masato
Malformations of cortical development are increasingly recognized as important causes of epilepsy, developmental delay and other neurological disorders. Our purpose is to present the relevance of the MRI in these pathologies with the clinical, genetic and therapeutic aspects. This classification is based on the three fundamental events of cortical formation: proliferation of neurons and glie in the periventricular zone, migration of postmitotic neurons to the periphery, subsequent cortical organization. MR analysis evaluates particularly the cortical thickness, sulcal and cortical morphology, gray-white matter junction, and looks for gray matter in abnormal location. These data coupled with the familial history, the seizure characteristics and genetic findings should allow an appropriate classification of the lesions. MR imaging allows the detection and classification of cortical malformations. MR imaging findings are primordial to consider surgery when the epilepsy becomes refractory to the anti-epileptic drugs. An adequate classification of these malformations should help to provide to the family an appropriate counseling both in terms of genetics and outcome. PMID:17095957
Cottier, J P; Toutain, A; Hommet, C; Sembely, C; Bosq, M; Texier, N; Herbreteau, D; Sirinelli, D
Over the past ten years, polyethylene tube, stainless steel wire and absorbable gelatin sponge have come to be used in middle ear surgery. A modified Williams' steel chamber with a transparent central area was embedded in a rabbit ear lobe surgically, and cross-sectioned polyethylene tube, stainless steel wire or absorbable gelatin sponge were inserted respectively. The in vivo tissue reaction to each of these installed materials was observed daily microscopically. Finally, in the case of both the cross-sectioned polyethylene tube and the stainless steel wire, the chambers were fixed with 10% formalin solution and the contents stained for histological study. The results were as follows: Absorbable gelatin sponge was absorbed completely by phagocytosis in 62 days. Polyethylene tube was encapsulated by a layer of fibroblasts by day 110 in one case and by day 140 in another case; these findings were confirmed histologically on day 110 and 281. Almost all the surface of the stainless steel wire was encapsulated by a layer consisting of giant cells, on which a dense fibrous layer was superimposed by day 82. It is concluded that polyethylene tube, stainless steel wire, and absorbable gelatin sponge should be well tolerated in middle ear surgery. PMID:137659
Ohsaki, K; Saito, R
Middle and inner ears from human cadaver temporal bones were stimulated in the forward direction by an ear-canal sound source, and in the reverse direction by an inner-ear sound source. For each stimulus type, three variables were measured: (a) Pec-ear-canal pressure with a probe-tube microphone within 3 mm of the eardrum, (b) Vst-stapes velocity with a laser interferometer, and (c)
This paper investigates an ear worn sensor for the development of a gait analysis framework. Instead of explicitly defining gait features that indicate injury or impairment, an automatic method of feature extraction and selection is proposed. The proposed framework uses multi-resolution wavelet analysis and margin based feature selection. It was validated on three datasets; the first simulating a leg injury,
Louis Atallah; Omer Aziz; Benny P. L. Lo; Guang-zhong Yang
We are interested in stable gene network activities operating sequentially during inner ear specification. The implementation of this patterning process is a key event in the generation of functional subdivisions of the otic vesicle during early embryonic development. The vertebrate inner ear is a complex sensory structure that is a good model system for characterization of developmental mechanisms controlling patterning and specification. Meis genes, belonging to the TALE family, encode homodomain-containing transcription factors remarkably conserved during evolution, which play a role in normal and neoplastic development. To gain understanding of the possible role of homeobox Meis genes in the developing chick inner ear, we comprehensively analyzed their spatiotemporal expression patterns from early otic specification stages onwards. In the invaginating otic placode, Meis1/2 transcripts were observed in the borders of the otic cup, being absent in the portion of otic epithelium closest to the hindbrain. As development proceeds, Meis1 and Meis2 expressions became restricted to the dorsomedial otic epithelium. Both genes were strongly expressed in the entire presumptive domain of the semicircular canals, and more weakly in all associated cristae. The endolymphatic apparatus was labeled in part by Meis1/2. Meis1 was also expressed in the lateral wall of the growing cochlear duct, while Meis2 expression was detected in a few cells of the developing acoustic-vestibular ganglion. Our results suggest a possible role of Meis assigning regional identity in the morphogenesis, patterning, and specification of the developing inner ear. PMID:21120931
Sánchez-Guardado, Luis Óscar; Ferran, José Luis; Rodríguez-Gallardo, Lucía; Puelles, Luis; Hidalgo-Sánchez, Matías
The effectiveness of ten different ear-protectors (6 types of earmuffs and 4 types of earplugs) has been tested under laboratory conditions and in the real occupational environment. Three methods were used: (1) physical, utilizing a dummy head; (2) subjective, real-ear, executed on trained human subjects; (3) subjective, measuring TTS2 resulting from occupational, one-workday exposure. It could be shown that the ear protection efficiency ascertained on the basis of TTS2 measurements on workers exposed to noise in their occupational environment is, in nearly all cases, smaller than the efficiency expected, taking into account the sound damping of the same protectors, tested under laboratory conditions, using the physical or real-ear method. Measurements of TTS2 were found to give the best data needed to define the protectors' efficiency, since they include, simultaneously, the impact of various environmental factors, the subjective reactiveness, the nature of the professional task and the acoustical features of the protector used. Therefore this method enables the estimation of the real protection given to workers with a risk of noise-induced hearing loss. PMID:2379964
Pawlas, K; Grzesik, J
Most maize cultivars have been developed for grain production. Because superior cultivars may differ in their exploiting purposes, interest has been demonstrated for the evaluation of corn cultivars with regard to their baby corn, green ear, and grain yields production ability. In the present work ten corn cultivars (AG 405, AG 1051, AG 2060, AG 6690, AG 7575, AG 8080,
Itala Paula de C. Almeida; Paulo Sérgio L. e Silva; Maria Z. de Negreiros; Zenaide Barbosa
An outbreak of erysipelas killed an estimated 5,000 aquatic birds on Great Salt Lake (Utah) in late November, 1975. Although several thousand ducks and gulls were using the lake, at least 99 percent of the victims were eared grebes. A hypothetical explanation for the selective mortality is offered.
Jensen, W. I.; Cotter, S. E.