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  1. Congenital sensorineural hearing loss

    International Nuclear Information System (INIS)

    Mafee, M.F.; Selis, J.E.; Yannias, D.A.; Valvassori, G.E.; Pruzansky, S.; Applebaum, E.L.; Capek, V.

    1984-01-01

    The ears of 47 selected patients with congenital sensorineural hearing loss were examined with complex-motion tomography. The patients were divided into 3 general categories: those with a recognized syndrome, those with sensorineural hearing loss unrelated to any known syndrome, and those with microtia. A great variety of inner ear anomalies was detected, but rarely were these characteristic of a particular clinical entity. The most common finding was the Mondini malformation or one of its variants. Isolated dysplasia of the internal auditory canal or the vestibular aqueduct may be responsible for sensorineural hearing loss in some patients. Patients with microtia may also have severe inner ear abnormalities despite the fact that the outer and inner ears develop embryologically from completely separate systems

  2. Congenital sensorineural hearing loss

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    Mafee, M.F.; Selis, J.E.; Yannias, D.A.; Valvassori, G.E.; Pruzansky, S.; Applebaum, E.L.; Capek, V.

    1984-02-01

    The ears of 47 selected patients with congenital sensorineural hearing loss were examined with complex-motion tomography. The patients were divided into 3 general categories: those with a recognized syndrome, those with sensorineural hearing loss unrelated to any known syndrome, and those with microtia. A great variety of inner ear anomalies was detected, but rarely were these characteristic of a particular clinical entity. The most common finding was the Mondini malformation or one of its variants. Isolated dysplasia of the internal auditory canal or the vestibular aqueduct may be responsible for sensorineural hearing loss in some patients. Patients with microtia may also have severe inner ear abnormalities despite the fact that the outer and inner ears develop embryologically from completely separate systems.

  3. Inner ear anomalies causing congenital sensorineural hearing loss: CT and MR imaging findings

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    Hong, Hyun Sook; Paik, Sang Hyun; Cha, Jang Gyu; Park, Seong Jin; Joh, Joon Hee; Park, Jai Soung; Kim, Dae Ho; Lee, Hae Kyung; Kim, Shi Chan [Soonchunhyang University Bucheon Hospital, Buchon(Korea, Republic of)

    2005-07-15

    Many congenital dysplasias of the osseous labyrinth have been identified, and the differential diagnosis of these dysplasias is essential for delivering proper patient management. We retrospectively reviewed the computed tomography (CT) and magnetic resonance (MR) imaging findings of 20 children who had congenital sensorineural hearing loss. The children included cases of enlarged vestibular aqueduct and endolymphatic sac (n=8), aplasia of the semicircular canal (n=4), lateral semicircular canal-vestibule dysplasia (n=3), common cavity malformations with a large vestibule (n=1), cochlear hypoplasia (n=1), Mondini's dysplasia with large vestibular aqueduct (n=1), Mondini's dysplasia with a large vestibule (n=1), and small internal auditory canal (n=1). Six cases were unilateral. Nine cases had combined deformities, and nine cased had cochlear implants. CT was performed with a 1.0-mm thickness in the direct coronal and axial sections with using bone algorithms. MR was performed with a temporal 3D T2 FSE 10-mm scan and with routine brain images. We describe here the imaging features for the anomalies of the inner ear in patients suffering from congenital sensorineural hearing loss.

  4. Inner ear anomalies causing congenital sensorineural hearing loss: CT and MR imaging findings

    International Nuclear Information System (INIS)

    Hong, Hyun Sook; Paik, Sang Hyun; Cha, Jang Gyu; Park, Seong Jin; Joh, Joon Hee; Park, Jai Soung; Kim, Dae Ho; Lee, Hae Kyung; Kim, Shi Chan

    2005-01-01

    Many congenital dysplasias of the osseous labyrinth have been identified, and the differential diagnosis of these dysplasias is essential for delivering proper patient management. We retrospectively reviewed the computed tomography (CT) and magnetic resonance (MR) imaging findings of 20 children who had congenital sensorineural hearing loss. The children included cases of enlarged vestibular aqueduct and endolymphatic sac (n=8), aplasia of the semicircular canal (n=4), lateral semicircular canal-vestibule dysplasia (n=3), common cavity malformations with a large vestibule (n=1), cochlear hypoplasia (n=1), Mondini's dysplasia with large vestibular aqueduct (n=1), Mondini's dysplasia with a large vestibule (n=1), and small internal auditory canal (n=1). Six cases were unilateral. Nine cases had combined deformities, and nine cased had cochlear implants. CT was performed with a 1.0-mm thickness in the direct coronal and axial sections with using bone algorithms. MR was performed with a temporal 3D T2 FSE 10-mm scan and with routine brain images. We describe here the imaging features for the anomalies of the inner ear in patients suffering from congenital sensorineural hearing loss

  5. Presence of cytomegalovirus in the perilymphatic fluid of patients with profound sensorineural hearing loss caused by congenital cytomegalovirus infection.

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    Ogawa, Hiroshi; Matsui, Takamichi; Baba, Yoko; Yamada, Naoko; Suzuki, Yukie; Suzutani, Tatsuo

    2016-01-01

    Not all patients diagnosed with congenital infection using umbilical cord assay were found to be positive for CMV-DNA by perilymphatic fluid assay. In addition, a CMV-DNA-positive result was observed in one patient who had not been diagnosed with congenital infection. Sampling of perilymphatic fluid from a large population of patients with congenital SNHL caused by congenital CMV infection or of unknown etiology is required to determine the prevalence of CMV-related profound HL. Sensorineural hearing loss (SNHL) is one of the most frequent manifestations in patients with congenital cytomegalovirus (CMV) infection. Using dried umbilical cord, a PCR-based assay was recently developed for the retrospective detection of congenital CMV infection. This study analyzed the presence of CMV in the perilymphatic fluid and evaluated differences in the effect of cochlear implantation between CMV-positive and -negative groups. Perilymphatic fluid was collected from each patient at the time of cochlear implantation and analyzed for the presence of CMV using a PCR method. The perilymphatic fluid in two of the five patients suffering from congenital CMV infection and in one of the 17 patients without congenital CMV infection was found to be positive for CMV.

  6. Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome

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    Abramowicz Marc

    2008-10-01

    Full Text Available Abstract Harboyan syndrome is a degenerative corneal disorder defined as congenital hereditary endothelial dystrophy (CHED accompanied by progressive, postlingual sensorineural hearing loss. To date, 24 cases from 11 families of various origin (Asian Indian, South American Indian, Sephardi Jewish, Brazilian Portuguese, Dutch, Gypsy, Moroccan, Dominican have been reported. More than 50% of the reported cases have been associated with parental consanguinity. The ocular manifestations in Harboyan syndrome include diffuse bilateral corneal edema occurring with severe corneal clouding, blurred vision, visual loss and nystagmus. They are apparent at birth or within the neonatal period and are indistinguishable from those characteristic of the autosomal recessive CHED (CHED2. Hearing deficit in Harboyan is slowly progressive and typically found in patients 10–25 years old. There are no reported cases with prelinglual deafness, however, a significant hearing loss in children as young as 4 years old has been detected by audiometry, suggesting that hearing may be affected earlier, even at birth. Harboyan syndrome is caused by mutations in the SLC4A11 gene located at the CHED2 locus on chromosome 20p13-p12, indicating that CHED2 and Harboyan syndrome are allelic disorders. A total of 62 different SLC4A11 mutations have been reported in 98 families (92 CHED2 and 6 Harboyan. All reported cases have been consistent with autosomal recessive transmission. Diagnosis is based on clinical criteria, detailed ophthalmological assessment and audiometry. A molecular confirmation of the clinical diagnosis is feasible. A variety of genetic, metabolic, developmental and acquired diseases presenting with clouding of the cornea should be considered in the differential diagnosis (Peters anomaly, sclerocornea, limbal dermoids, congenital glaucoma. Audiometry must be performed to differentiate Harboyan syndrome from CHED2. Autosomal recessive types of CHED (CHED2 and

  7. Epileptiform electroencephalogram abnormality in children with congenital sensorineural hearing loss.

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    El-Badry, Mohamed Mohamed; Hamdy, Nermin Aly; Sobhy, Sayed; Gamal, Reham

    2014-04-01

    This work was designed to study electroencephalogram findings in children with congenital sensorineural hearing loss and correlate these findings with the SNHL parameters as duration, etiology, severity, and type. Ninety children with bilateral congenital sensorineural hearing loss served as the study group. They were free from any neurological disorders or symptoms that are commonly associated with abnormal electroencephalogram as convulsions or loss of consciousness. Twenty children having normal hearing with no history of otological or neurological disorders served as the control group. All children participating in the study were subjected to full medical and audiological history, otological examination, neurological examination, audiological evaluation and electroencephalogram recording. Mean age of the children in the control group was 3.56 ± 2.1 years and mean age of the children in the study group was 3.8 ± 2.2 years. While none of the control children had abnormal electroencephalogram, 38 (42.2%) of children with congenital SNHL had epileptiform electroencephalogram abnormality. The epileptiform abnormality was generalized in 14 children (36.8%), focal temporal in 17 children (44.7%) and focal other than temporal in 7 children (18.4%). According to the hemispheric side affected, the abnormality was right in 14 children (36.8%), left in 10 children (26.3%) and bilateral in 14 children (36.8%). No statistically significant predominance of specific site or side of the epileptiform abnormality was found. Similarly, no statistical significant prevalent of the epileptiform abnormality was found in relation to the age or sex of children, duration of hearing loss or etiology of hearing loss (i.e., genetic vs. neonatal insults). On the other hand, the epileptiform abnormality was statistically prevalent in children with moderate degree of hearing loss, and in children with auditory neuropathy spectrum disorder. The epileptiform electroencephalogram abnormality is

  8. Whole-exome sequencing to identify the cause of congenital sensorineural hearing loss in carriers of a heterozygous GJB2 mutation.

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    Parzefall, Thomas; Frohne, Alexandra; Koenighofer, Martin; Kirchnawy, Andreas; Streubel, Berthold; Schoefer, Christian; Frei, Klemens; Lucas, Trevor

    2017-10-01

    Bi-allelic variations in the gap junction protein beta-2 (GJB2) gene cause up to 50% of cases of newborn hearing loss. Heterozygous pathogenic GJB2 variations are also fivefold overrepresented in idiopathic patient groups compared to the normal-hearing population. Whether hearing loss in this group is due to unidentified additional variations within GJB2 or variations in other deafness genes is unknown in most cases. Whole-exome sequencing offers an effective approach in the search for causative variations in patients with Mendelian diseases. In this prospective genetic cohort study, we initially investigated a family of Turkish origin suffering from congenital autosomal recessive hearing loss. An index patient and his normal-hearing father, both bearing a single heterozygous pathogenic c.262G>T (p.Ala88Ser) GJB2 transversion as well as the normal-hearing mother were investigated by means of whole-exome sequencing. Subsequently the genetic screening was extended to a hearing-impaired cohort of 24 families of Turkish origin. A homozygous missense c.5492G>T transversion (p.Gly1831Val) in the Myosin 15a gene, previously linked to deafness, was identified as causative in the index family. This very rare variant is not listed in any population in the Genome Aggregation Database. Subsequent screening of index patients from additional families of Turkish origin with recessive hearing loss identified the c.5492G>T variation in an additional family. Whole-exome sequencing may effectively identify the causes of idiopathic hearing loss in patients bearing heterozygous GJB2 variations.

  9. Whole-exome sequencing to identify the cause of congenital sensorineural hearing loss in carriers of a heterozygous GJB2 mutation

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    Parzefall, Thomas; Frohne, Alexandra; Koenighofer, Martin; Kirchnawy, Andreas; Streubel, Berthold; Schoefer, Christian; Frei, Klemens; Lucas, Trevor

    2017-01-01

    Bi-allelic variations in the gap junction protein beta-2 (GJB2) gene cause up to 50% of cases of newborn hearing loss. Heterozygous pathogenic GJB2 variations are also fivefold overrepresented in idiopathic patient groups compared to the normal-hearing population. Whether hearing loss in this group is due to unidentified additional variations within GJB2 or variations in other deafness genes is unknown in most cases. Whole-exome sequencing offers an effective approach in the search for causat...

  10. Dominant ER Stress-InducingWFS1Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts.

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    De Franco, Elisa; Flanagan, Sarah E; Yagi, Takuya; Abreu, Damien; Mahadevan, Jana; Johnson, Matthew B; Jones, Garan; Acosta, Fernanda; Mulaudzi, Mphele; Lek, Ngee; Oh, Vera; Petz, Oliver; Caswell, Richard; Ellard, Sian; Urano, Fumihiko; Hattersley, Andrew T

    2017-07-01

    Neonatal diabetes is frequently part of a complex syndrome with extrapancreatic features: 18 genes causing syndromic neonatal diabetes have been identified to date. There are still patients with neonatal diabetes who have novel genetic syndromes. We performed exome sequencing in a patient and his unrelated, unaffected parents to identify the genetic etiology of a syndrome characterized by neonatal diabetes, sensorineural deafness, and congenital cataracts. Further testing was performed in 311 patients with diabetes diagnosed before 1 year of age in whom all known genetic causes had been excluded. We identified 5 patients, including the initial case, with three heterozygous missense mutations in WFS1 (4/5 confirmed de novo). They had diabetes diagnosed before 12 months (2 before 6 months) (5/5), sensorineural deafness diagnosed soon after birth (5/5), congenital cataracts (4/5), and hypotonia (4/5). In vitro studies showed that these WFS1 mutations are functionally different from the known recessive Wolfram syndrome-causing mutations, as they tend to aggregate and induce robust endoplasmic reticulum stress. Our results establish specific dominant WFS1 mutations as a cause of a novel syndrome including neonatal/infancy-onset diabetes, congenital cataracts, and sensorineural deafness. This syndrome has a discrete pathophysiology and differs genetically and clinically from recessive Wolfram syndrome. © 2017 by the American Diabetes Association.

  11. Sensorineural deafness

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    Nerve deafness; Hearing loss - sensorineural; Acquired hearing loss; SNHL; Noise-induced hearing loss; NIHL; Presbycusis ... that carries the signals to the brain. Sensorineural deafness that is present at birth (congenital) is most ...

  12. Congenital inner ear malformations without sensorineural hearing loss.

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    Yukawa, Kumiko; Horiguchi, Satoshi; Suzuki, Mamoru

    2008-03-01

    It has been reported that normal hearing is rare in patients with severe inner ear vestibular malformations [Kokai H, Oohashi M, Ishikawa K, Harada K, Hiratsuka H, Ogasawara M et al. Clinical review of inner ear malformation. J Otolaryngol Jpn 2003;106(10):1038-44; Schuknecht HF. Mondini dysplasia. A clinical pathological study. Ann Otol Rhinol Laryngol 1980;89(Suppl. 65):1-23; Jackler RK, Luxford WM, House WF. Congenital malformations of the inner ear: a classification based on embryogenesis. Laryngoscope 1987;97:2-14; Phelps PD. Congenital lesions of the inner ear, demonstrated by tomography. Arch Otolaryngol 1974;100:11-8]. A 37-year-old woman had combined dysplasia of the posterior and lateral semicircular canals (PSCC, LSCC) with normal cochlear development and normal hearing in both ears. She had complained of dizziness for 8 months. High resolution computed tomography (CT) showed hypogenesis of the bony labyrinth in both ears. Bilateral PSCC and LSCC dysplasia and dilatation of the vestibule were detected. Magnetic resonant imaging (MRI) revealed that the deformity of the PSCC was more severe than the LSCC. Although the caloric test of the left ear elicited no nystagmus and there was reduced response in the right ear, the horizontal vestibulo-occular reflex (VOR) was present. Her dizzy sensation disappeared within 3 months without special treatment. The dizziness attack might have been caused by a temporary breakdown of her peripheral vestibular system.

  13. Cochlear implantation for severe sensorineural hearing loss caused by lightning.

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    Myung, Nam-Suk; Lee, Il-Woo; Goh, Eui-Kyung; Kong, Soo-Keun

    2012-01-01

    Lightning strike can produce an array of clinical symptoms and injuries. It may damage multiple organs and cause auditory injuries ranging from transient hearing loss and vertigo to complete disruption of the auditory system. Tympanic-membrane rupture is relatively common in patients with lightning injury. The exact pathogenetic mechanisms of auditory lesions in lightning survivors have not been fully elucidated. We report the case of a 45-year-old woman with bilateral profound sensorineural hearing loss caused by a lightning strike, who was successfully rehabilitated after a cochlear implantation. Copyright © 2012 Elsevier Inc. All rights reserved.

  14. Niikawa-Kuroki (Kabuki) syndrome with congenital sensorineural deafness: evidence for a wide spectrum of inner ear abnormalities.

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    Tekin, Mustafa; Fitoz, Suat; Arici, Serap; Cetinkaya, Ergun; Incesulu, Armagan

    2006-05-01

    Hearing loss, mainly due to recurrent otitis media, has been reported in approximately 40% of individuals with Niikawa-Kuroki (Kabuki) syndrome (NKS). Sensorineural hearing loss leading to congenital or prelingual deafness has been described rarely. We have identified two unrelated individuals with Niikawa-Kuroki syndrome among 535 probands who have severe to profound sensorineural deafness. Bilateral absence of the cochlea with dilated dysplastic vestibule and unilateral enlarged vestibule were demonstrated in these two individuals. In conclusion, Niikawa-Kuroki syndrome should be kept in mind when evaluating an individual with congenital deafness and a wide spectrum of inner ear abnormalities occurs in this syndrome.

  15. Sensorineural hearing loss and Mondini dysplasia caused by a deletion at locus DFN3.

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    Arellano, B; Ramírez Camacho, R; García Berrocal, J R; Villamar, M; del Castillo, I; Moreno, F

    2000-09-01

    To study a family with inner ear malformations and sensorineural hearing loss. Clinical, radiological, and genetic study of the members of a family with different degrees of sensorineural hearing loss. The males in the family manifested profound congenital hearing loss with severe inner ear malformations, while the only affected female had progressive hearing loss that had begun during puberty. Computed tomography showed inner ear malformations in both males, with enlarged internal auditory meatus and Mondini dysplasia. Genetic analysis disclosed a microdeletion at the locus DFN3 on chromosome X. A familial Mondini dysplasia is associated to a microdeletion at the deafness locus DFN3.

  16. Infective causes of congenital anomalies

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    Garcia, Aparecida Gomes Pinto

    1981-01-01

    Revisão sumária das causas infecciosas das anomalias congênitas englobando as malformações, que correspondem a estruturas anormais orgânicas ou tissulares decorrentes de erros primários de morfogenese embrionaria e deformações, que se instalam no período fetal da vida intrauterina, correspondentes a alterações de forma e estrutura de órgãos primitivamente bem constituidos.Review of the infective causes of Congenital Anomalies, including Malformations, which arise during the embryonic period a...

  17. Prevalence, heritability and genetic correlations of congenital sensorineural deafness and pigmentation phenotypes in the Border Collie.

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    De Risio, Luisa; Lewis, Tom; Freeman, Julia; de Stefani, Alberta; Matiasek, Lara; Blott, Sarah

    2011-06-01

    The objectives of this study were to estimate prevalence, heritability and genetic correlations of congenital sensorineural deafness (CSD) and pigmentation phenotypes in the Border Collie. Entire litters of Border Collies that presented to the Animal Health Trust (1994-2008) for assessment of hearing status by brain stem auditory evoked response (BAER) at 4-10 weeks of age were included. Heritability and genetic correlations were estimated using residual maximum likelihood (REML). Of 4143 puppies that met the inclusion criteria, 97.6% had normal hearing status, 2.0% were unilaterally deaf and 0.4% were bilaterally deaf. Heritability of deafness as a trichotomous trait (normal/unilaterally deaf/bilaterally deaf) was estimated at 0.42 using multivariate analysis. Genetic correlations of deafness with iris colour and merle coat colour were 0.58 and 0.26, respectively. These results indicate that there is a significant genetic effect on CSD in Border Collies and that some of the genes determining deafness also influence pigmentation phenotypes. Copyright © 2010 Elsevier Ltd. All rights reserved.

  18. Incidence and factors associated with sensorineural and conductive hearing loss among survivors of congenital diaphragmatic hernia.

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    Partridge, Emily A; Bridge, Christina; Donaher, Joseph G; Herkert, Lisa M; Grill, Elena; Danzer, Enrico; Gerdes, Marsha; Hoffman, Casey H; D'Agostino, Jo Ann; Bernbaum, Judy C; Rintoul, Natalie E; Peranteau, William H; Flake, Alan W; Adzick, N Scott; Hedrick, Holly L

    2014-06-01

    The reported incidence of sensorineural hearing loss (SNHL) in long-term survivors of congenital diaphragmatic hernia varies widely in the literature. Conductive hearing loss (CHL) is also known to occur in CDH patients, but has been less widely studied. We sought to characterize the incidence and risk factors associated with SNHL and CHL in a large cohort of CDH patients who underwent standardized treatment and follow-up at a single institution. We retrospectively reviewed charts of all CDH patients in our pulmonary hypoplasia program from January 2004 through December 2012. Categorical variables were analyzed by Fisher's exact test and continuous variables by Mann-Whitney t-test (p≤0.05). A total of 112 patients met study inclusion criteria, with 3 (2.7%) patients diagnosed with SNHL and 38 (34.0%) diagnosed with CHL. SNHL was significantly associated with requirement for ECMO (p=0.0130), prolonged course of hospitalization (p=0.0011), duration of mechanical ventilation (p=0.0046), requirement for tracheostomy (p=0.0013), and duration of loop diuretic (p=0.0005) and aminoglycoside therapy (p=0.0003). We have identified hearing anomalies in over 30% of long-term CDH survivors. These findings illustrate the need for routine serial audiologic evaluations throughout childhood for all survivors of CDH and stress the importance of targeted interventions to optimize long-term developmental outcomes pertaining to speech and language. Copyright © 2014 Elsevier Inc. All rights reserved.

  19. [Constitute, imaging and auditory characteristics of pediatric patients with congenital malformations of inner ear in sensorineural hearing loss].

    Science.gov (United States)

    Li, Youjin; Yang, Jun; Li, Yun

    2011-01-01

    To analyze the constitute, imaging and auditory characteristics of pediatric patients with congenital malformations of inner ear in sensorineural hearing loss(SNHL). Imaging and auditory data of 125 cases (225 ears) in 860 pediatric patients with congenital SNHL who referred to ENT department of Shanghai Children Medical Center from February 2005 to January 2010 were retrospectively studied. Congenital malformations of inner ear accounted for 14.5% in 860 pediatric patients with congenital SNHL. Bilateral ear was involved in 98 cases (78.4%), unilateral in 27 cases (21.6%). One hundred and sixty-seven ears (74.2%) were identified as profound deafness, 36 ears (16%) severe deafness and 22 ears (9.8%) moderate deafness in 225 ears, respectively. In present group, large vestibular aqueduct (75.6%) was the most common and next was vestibular deformity (32%), then cochleovestibular deformity (23.1%). Mondini deformity (55.8%) was the most common and common cavity deformity (28.9%) next in cochleovestibular deformity. Profound deafness in cochlea involved congenital malformations of inner ear was significantly more than those in no cochlea involved malformations. The results are of importance for understanding the constitute of congenital malformations of inner ear in pediatric patients with congenital SNHL in China, for etiological diagnosis of congenital SNHL, for intervention including hearing aids or cochlear implant and prognosis.

  20. Megadolicho basilar artery as a cause of asymmetrical sensorineural hearing loss - case report

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    Melo, Antonio Antunes

    2011-07-01

    Full Text Available Introduction: At the differentiated diagnosis of asymmetrical sensorineural hearing losses, vascular disorders are present, one of which is megadolicho basilar artery. This disease is generally asymptomatic, and when symptoms are found, they can be caused by a compression or ischemia. Clinically, sensorineural hearing loss, tinnitus, headache, facial hypoesthesia, trigeminal neuralgia, vertigo, diplopia and facial palsy, among others, are likely to occur. The image examination of choice for its diagnosis is nuclear magnetic resonance. The megadolicho basilar artery therapy can be surgical or conservative, according to the associated findings. A multidisciplinary approach, including a neurologist, neurosurgeon and an otorhinolaryngologist is recommended for a proper administration of the case. Objective: Report the case of a patient with asymmetrical sensorineural hearing loss, diagnosed of megadolicho basilar artery. Case report: JBS, 57-year-old white male with a history of asymmetrical sensorineural hearing loss and bilateral whistle-like tinnitus for several years. The otorhinolaryngologic evaluation, including otoscopy, anterior rhinoscopy and oral pharynx, was normal. Final Comments: The treatment consisted in following up with the patient, controlling the tinnitus by drugs and using an individual sound amplification apparatus on the left ear.

  1. Auditory hair cell defects as potential cause for sensorineural deafness in Wolf-Hirschhorn syndrome

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    Mohi Ahmed

    2015-09-01

    Full Text Available WHSC1 is a histone methyltransferase (HMT that catalyses the addition of methyl groups to lysine 36 on histone 3. In humans, WHSC1 haploinsufficiency is associated with all known cases of Wolf-Hirschhorn syndrome (WHS. The cardinal feature of WHS is a craniofacial dysmorphism, which is accompanied by sensorineural hearing loss in 15% of individuals with WHS. Here, we show that WHSC1-deficient mice display craniofacial defects that overlap with WHS, including cochlea anomalies. Although auditory hair cells are specified normally, their stereocilia hair bundles required for sound perception fail to develop the appropriate morphology. Furthermore, the orientation and cellular organisation of cochlear hair cells and their innervation are defective. These findings identify, for the first time, the likely cause of sensorineural hearing loss in individuals with WHS.

  2. Auditory hair cell defects as potential cause for sensorineural deafness in Wolf-Hirschhorn syndrome.

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    Ahmed, Mohi; Ura, Kiyoe; Streit, Andrea

    2015-09-01

    WHSC1 is a histone methyltransferase (HMT) that catalyses the addition of methyl groups to lysine 36 on histone 3. In humans, WHSC1 haploinsufficiency is associated with all known cases of Wolf-Hirschhorn syndrome (WHS). The cardinal feature of WHS is a craniofacial dysmorphism, which is accompanied by sensorineural hearing loss in 15% of individuals with WHS. Here, we show that WHSC1-deficient mice display craniofacial defects that overlap with WHS, including cochlea anomalies. Although auditory hair cells are specified normally, their stereocilia hair bundles required for sound perception fail to develop the appropriate morphology. Furthermore, the orientation and cellular organisation of cochlear hair cells and their innervation are defective. These findings identify, for the first time, the likely cause of sensorineural hearing loss in individuals with WHS. © 2015. Published by The Company of Biologists Ltd.

  3. Clinical and experimental studies on the sensorineural hearing loss caused by irradiation

    International Nuclear Information System (INIS)

    Yamamoto, Matsunori

    1979-01-01

    In our study, 43 patients whose ears were presumably irradiated, were examined periodically before and after the irradiation; 10 were found to be affected by the sensorineural hearing loss, and these 10 were classified into two types. Type I; Patients of this group had a hearing impairment during or soon after irradiation and usually revealed marked deterioration of bone conduction in high frequencies accompanied by worsening of air conduction in low frequencies. The impaired hearing of this group soon recovered to the pre-treatment level. Type II; Patients of this group developed a slow progressive sensorineural hearing loss. They noticed the deafness with tinnitus several months after irradiation. To clarify the mechanism of the sensorineural hearing loss, histopathological investigations were done using nembutal anesthetized guinea pigs which were irradiated in the confined ear region unilaterally. We also examined histopathologically one human temporal bone belonging to a patient who had been irradiated for middle ear carcinoma. The histopathology of the guinea pigs and human case revealed the following conclusions: Type I hearing loss may be caused by toxic labyrinthitis secondary to the radiation otitis media or by the aseptic labyrinthitis as the result of hyperemia and increased permeability of the irradiated blood vessels in the cochlea. Type II hearing loss may be caused by the late rediation response of the cochleal blood vessels i.e. by the vasculitis which gives rise to obliteration of the vascular lumen and affects the blood supply of the hair cells. (author)

  4. Congenital cytomegalovirus (CMV) infection as a cause of permanent bilateral hearing loss: a quantitative assessment.

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    Grosse, Scott D; Ross, Danielle S; Dollard, Sheila C

    2008-02-01

    Congenital cytomegalovirus (CMV) infection is a cause of sensorineural hearing loss (SNHL) in children, but the magnitude of its contribution is uncertain. Quantifying the impact of congenital CMV infection requires an evidence-based assessment using a standard case definition of hearing loss. To determine the frequency of bilateral moderate to profound SNHL in children with congenital CMV infection and to estimate the CMV-attributable fraction of bilateral moderate to profound SNHL. A systematic review of studies of children with congenital CMV infection ascertained in an unbiased manner through universal newborn screening for CMV using viral culture in urine or saliva specimens in combination with a review of the literature on congenital CMV infection and hearing loss, including articles of all types. Approximately, 14% of children with congenital CMV infection develop SNHL of some type, and 3-5% develop bilateral moderate to profound SNHL. Among all children with bilateral moderate to profound SNHL, we estimate that 15-20% of cases are attributable to congenital CMV infection. Congenital CMV infection is one of the most important causes of hearing loss in young children, second only to genetic mutations, and is potentially preventable.

  5. The combination of vestibular impairment and congenital sensorineural hearing loss predisposes patients to ocular anomalies, including Usher syndrome.

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    Kletke, S; Batmanabane, V; Dai, T; Vincent, A; Li, S; Gordon, K A; Papsin, B C; Cushing, S L; Héon, E

    2017-07-01

    The co-occurrence of hearing impairment and visual dysfunction is devastating. Most deaf-blind etiologies are genetically determined, the commonest being Usher syndrome (USH). While studies of the congenitally deaf population reveal a variable degree of visual problems, there are no effective ophthalmic screening guidelines. We hypothesized that children with congenital sensorineural hearing loss (SNHL) and vestibular impairment were at an increased risk of having USH. A retrospective chart review of 33 cochlear implants recipients for severe to profound SNHL and measured vestibular dysfunction was performed to determine the ocular phenotype. All the cases had undergone ocular examination and electroretinogram (ERG). Patients with an abnormal ERG underwent genetic testing for USH. We found an underlying ocular abnormality in 81.81% (27/33) of cases; of which 75% had refractive errors, and 50% of those patients showed visual improvement with refractive correction. A total of 14 cases (42.42%; 14/33) had generalized rod-cone dysfunction on ERG suggestive of Usher syndrome type 1, confirmed by mutational analysis. This work shows that adding vestibular impairment as a criterion for requesting an eye exam and adding the ERG to detect USH increases the chances of detecting ocular anomalies, when compared with previous literature focusing only on congenital SNHL. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  6. Congenital sensorineural deafness in Australian stumpy-tail cattle dogs is an autosomal recessive trait that maps to CFA10.

    Directory of Open Access Journals (Sweden)

    Susan Sommerlad

    2010-10-01

    Full Text Available Congenital sensorineural deafness is an inherited condition found in many dog breeds, including Australian Stumpy-tail Cattle Dogs (ASCD. This deafness is evident in young pups and may affect one ear (unilateral or both ears (bilateral. The genetic locus/loci involved is unknown for all dog breeds. The aims of this study were to determine incidence, inheritance mechanism, and possible association of congenital sensorineural deafness with coat colour in ASCD and to identify the genetic locus underpinning this disease.A total of 315 ASCD were tested for sensorineural deafness using the brain stem auditory evoked response (BAER test. Disease penetrance was estimated directly, using the ratio of unilaterally to bilaterally deaf dogs, and segregation analysis was performed using Mendel. A complete genome screen was undertaken using 325 microsatellites spread throughout the genome, on a pedigree of 50 BAER tested ASCD in which deafness was segregating. Fifty-six dogs (17.8% were deaf, with 17 bilaterally and 39 unilaterally deaf. Unilaterally deaf dogs showed no significant left/right bias (p = 0.19 and no significant difference was observed in frequencies between the sexes (p = 0.18. Penetrance of deafness was estimated as 0.72. Testing the association of red/blue coat colour and deafness without accounting for pedigree structure showed that red dogs were 1.8 times more likely to be deaf (p = 0.045. The within family association between red/blue coat colour and deafness was strongly significant (p = 0.00036, with red coat colour segregating more frequently with deafness (COR = 0.48. The relationship between deafness and coat speckling approached significance (p = 0.07, with the lack of statistical significance possibly due to only four families co-segregating for both deafness and speckling. The deafness phenotype was mapped to CFA10 (maximum linkage peak on CFA10 -log10 p-value = 3.64, as was both coat colour and

  7. [Iatrogenic and non-iatrogenic factors as causes of progressive sensorineural hearing loss].

    Science.gov (United States)

    De Capua, B; Barbieri, M T; Tozzi, A; Passàli, D

    1998-08-01

    The aim of our study was to analyze factors such as noise, chemical drugs, industrial solvents and radiotherapy, which can cause cochlear lesions with progressive sensorineural hearing loss. Although an acute overstimulation by acoustic energy may induce an irreversible hearing loss, in most cases the noise-induced deafness is related to the duration of the exposure and to the level of the acoustic stimulation. A permanent hearing deficit occurs when the acoustic level exceeds 85 dBs. Also several classes of drugs are described as having ototoxic potential: aminoglycoside antibiotics, loop diuretics, antimalarial drugs such as quinine, salicylates, some chemotherapeutic antineoplastic agents. Their potential ototoxic effect seems to be related not only to the molecule, but also to individual predisposition, dose and route of administration. Regarding the benzene derivatives, there is a relationship between their ototoxicity and factors such as duration of exposure and concentration in the local environment. Finally, radiotherapy to areas near the temporal bone may produce a degenerative insult to the vascular stria and the hair cell causing a progressive sensorineural hearing loss.

  8. Progressive sensorineural hearing loss, subjective tinnitus and vertigo caused by elevated blood lipids.

    Science.gov (United States)

    Pulec, J L; Pulec, M B; Mendoza, I

    1997-10-01

    The otologist frequently sees patients with progressive sensorineural hearing loss, subjective aural tinnitus and vertigo with no apparent cause. Elevated blood lipids may be a cause of inner ear malfunction on a biochemical basis. To establish the true incidence of this condition, all new patients (4,251) seen during an eight-year period were evaluated; of these, 2,332 patients had complaints of inner ear disease. All had a complete neurotologic examination, appropriate audiometric and vestibular studies and imaging, and blood tests including lipid phenotype studies. Hyperlipoproteinemia was found in 120 patients (5.1%). Most patients were found to be overweight and had additional coexisting conditions such as diabetes mellitus. Treatment with vasodilators and a 500-calorie, high-protein, low-carbohydrate diet yielded improvement of symptoms in 83% of patients within five months of initiation of treatment.

  9. Genetic causes of congenital diaphragmatic hernia

    Science.gov (United States)

    Wynn, Julia; Yu, Lan; Chung, Wendy K.

    2014-01-01

    Congenital diaphragmatic hernia (CDH) is a moderately prevalent birth defect that, despite advances in neonatal care, is still a significant cause of infant death, and surviving patients have significant morbidity. The goal of ongoing research to elucidate the genetic causes of CDH is to develop better treatment and ultimately prevention. CDH is a complex developmental defect that is etiologically heterogeneous. This review summarizes the recurrent genetic causes of CDH including aneuploidies, chromosome copy number variants, and single gene mutations. It also discusses strategies for genetic evaluation and genetic counseling in an era of rapidly evolving technologies in clinical genetic diagnostics. PMID:25447988

  10. Congenital torticollis caused by unilateral absence of the sternocleidomastoid muscle

    Energy Technology Data Exchange (ETDEWEB)

    Raman, Subha; Takhtani, Deepak; Wallace, E.C. [UMass Memorial Medical Center, Department of Radiology, Worcester, MA (United States)

    2009-01-15

    Congenital torticollis is most commonly caused by benign fibrosis of the sternocleidomastoid muscle. Absence of the sternocleidomastoid muscle is a rare cause of congenital torticollis. There have been fewer than a dozen reported cases of agenesis of the sternocleidomastoid muscle. We describe a case of congenital absence of the sternocleidomastoid diagnosed by US and confirmed on MRI. (orig.)

  11. A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350)

    OpenAIRE

    Heathcote, K.; Syrris, P.; Carter, N.; Patton, M.

    2000-01-01

    We report a missense mutation in the connexin 26 gene (GJB2) in a family with an autosomal dominant syndrome of hearing loss and hyperkeratosis. The affected family members have high frequency, slowly progressive, bilateral, sensorineural hearing loss and palmoplantar hyperkeratosis. The mutation causes an amino acid substitution (G59A), which may disrupt a reverse turn in the first extracellular loop of connexin 26. Connexin 26 mutations have been reported in syndromes of deafness and palmop...

  12. Screening of Long Q-T Syndrome in Patients with Congenital Sensorineural Hearing Loss (Jervell and Lange Neilesen Syndrome: Prevention of Fatal Events

    Directory of Open Access Journals (Sweden)

    Farid Matin

    2001-01-01

    Full Text Available Objective:The idiopathic long Q-T syndrome is an infrequently occurring disorder in which affected individuals have an unusual electrocardiographic repolarization abnormality presenting as syncope or loss of consciousness related to ventricular tachycardia or fibrillation. Congenital long Q-T prolongation can be associated with congenital deafness in an autosomal recessive manner (Jervell and Lange-Nielsen syndrome. The purpose of this stuff was to screen this electrocardiographic abnormality in deaf-mute school children in our population, which has not been yet performed. Materials & Methods:  Of 1190 patients with hearing loss, 779 had congenital sensorineural deafness (CSD, aged 13±3.8 years (4-24, 63% female and 37% male. The family history of deafness was as follows: Cardiac axis deviation was found in 56 (7% patients. Electrical conduction abnormalities were found in 12 (15% patients, Wolff-Parkinson-White syndrome, sinus bradycardia, and sinus arrhythmia were found in 2 (0.25%, 4 (0.5%, and 3 (0.38% patients, respectively. The Q-T interval, and Q-Tc duration were 312.6±28.9 ms (200-500 ms, median 320 ms, and 383.6±29.3 ms (232-527 ms, median 413ms, respectively. Long Q-T syndrome was found in 4 (0.5% patients (3F and 1M. Results: Two of these 4 patients had total deafness and 2 had profound hearing loss. None of the patients with mild deafness had Q-T prolongation. Only one of these patients was symptomatic, and had been treated as a case of epilepsy for several years. Conclusion: This data supports the presence of long Q-T syndrome in patients with sensorineural hearing loss in our population, so routine electrocardiographic screening of anyone with congenital deafness is warranted to prevent subsequent associated cardiac arrhythmias and sudden cardiac death.

  13. Prevalence of congenital hereditary sensorineural deafness in Australian Cattle Dogs and associations with coat characteristics and sex

    Directory of Open Access Journals (Sweden)

    Sommerlad Susan F

    2012-10-01

    Full Text Available Abstract Background Congenital hereditary sensorineural deafness (CHSD occurs in many dog breeds, including Australian Cattle Dogs. In some breeds, CHSD is associated with a lack of cochlear melanocytes in the stria vascularis, certain coat characteristics, and potentially, abnormalities in neuroepithelial pigment production. This study investigates phenotypic markers for CHSD in 899 Australian Cattle Dogs. Results Auditory function was tested in 899 Australian Cattle Dogs in family groups using brainstem auditory evoked response testing. Coat colour and patterns, facial and body markings, gender and parental hearing status were recorded. Deafness prevalence among all 899 dogs was 10.8% with 7.5% unilaterally deaf, and 3.3% bilaterally deaf, and amongst pups from completely tested litters (n = 696 was 11.1%, with 7.5% unilaterally deaf, and 3.6% bilaterally deaf. Univariable and multivariable analyses revealed a negative association between deafness and bilateral facial masks (odds ratio 0.2; P ≤ 0.001. Using multivariable logistic animal modelling, the risk of deafness was lower in dogs with pigmented body spots (odds ratio 0.4; P = 0.050. No significant associations were found between deafness and coat colour. Within unilaterally deaf dogs with unilateral facial masks, no association was observed between the side of deafness and side of mask. The side of unilateral deafness was not significantly clustered amongst unilaterally deaf dogs from the same litter. Females were at increased risk of deafness (odds ratio from a logistic animal model 1.9; P = 0.034 after adjusting for any confounding by mask type and pigmented body spots. Conclusions Australian Cattle Dogs suffer from CHSD, and this disease is more common in dogs with mask-free faces, and in those without pigmented body patches. In unilaterally deaf dogs with unilateral masks, the lack of observed association between side of deafness and side of mask suggests that if CHSD is due to

  14. Altered Brain Functional Activity in Infants with Congenital Bilateral Severe Sensorineural Hearing Loss: A Resting-State Functional MRI Study under Sedation

    Directory of Open Access Journals (Sweden)

    Shuang Xia

    2017-01-01

    Full Text Available Early hearing deprivation could affect the development of auditory, language, and vision ability. Insufficient or no stimulation of the auditory cortex during the sensitive periods of plasticity could affect the function of hearing, language, and vision development. Twenty-three infants with congenital severe sensorineural hearing loss (CSSHL and 17 age and sex matched normal hearing subjects were recruited. The amplitude of low frequency fluctuations (ALFF and regional homogeneity (ReHo of the auditory, language, and vision related brain areas were compared between deaf infants and normal subjects. Compared with normal hearing subjects, decreased ALFF and ReHo were observed in auditory and language-related cortex. Increased ALFF and ReHo were observed in vision related cortex, which suggest that hearing and language function were impaired and vision function was enhanced due to the loss of hearing. ALFF of left Brodmann area 45 (BA45 was negatively correlated with deaf duration in infants with CSSHL. ALFF of right BA39 was positively correlated with deaf duration in infants with CSSHL. In conclusion, ALFF and ReHo can reflect the abnormal brain function in language, auditory, and visual information processing in infants with CSSHL. This demonstrates that the development of auditory, language, and vision processing function has been affected by congenital severe sensorineural hearing loss before 4 years of age.

  15. Altered Brain Functional Activity in Infants with Congenital Bilateral Severe Sensorineural Hearing Loss: A Resting-State Functional MRI Study under Sedation

    Science.gov (United States)

    Che, Jing; Li, Qiang; Chai, Chao; Zheng, Meizhu; Shen, Wen

    2017-01-01

    Early hearing deprivation could affect the development of auditory, language, and vision ability. Insufficient or no stimulation of the auditory cortex during the sensitive periods of plasticity could affect the function of hearing, language, and vision development. Twenty-three infants with congenital severe sensorineural hearing loss (CSSHL) and 17 age and sex matched normal hearing subjects were recruited. The amplitude of low frequency fluctuations (ALFF) and regional homogeneity (ReHo) of the auditory, language, and vision related brain areas were compared between deaf infants and normal subjects. Compared with normal hearing subjects, decreased ALFF and ReHo were observed in auditory and language-related cortex. Increased ALFF and ReHo were observed in vision related cortex, which suggest that hearing and language function were impaired and vision function was enhanced due to the loss of hearing. ALFF of left Brodmann area 45 (BA45) was negatively correlated with deaf duration in infants with CSSHL. ALFF of right BA39 was positively correlated with deaf duration in infants with CSSHL. In conclusion, ALFF and ReHo can reflect the abnormal brain function in language, auditory, and visual information processing in infants with CSSHL. This demonstrates that the development of auditory, language, and vision processing function has been affected by congenital severe sensorineural hearing loss before 4 years of age. PMID:28255465

  16. Congenital abnormality of the inner ear and internal auditory canal in a patient with deep sensorineural hearing loss: A case report

    International Nuclear Information System (INIS)

    Rivera, Diego; Saab, Said; Cordoba, Claudia; Montes, Guillermo; Barreto, Tatiana

    2010-01-01

    CT and MRI are complementary studies that have proven to be the best radiological tools in screening of children with unilateral or bilateral sensorineural hearing loss. Only about a 20% of the patients with congenital sensor neural hearing loss have manifestations in images. Due to the fact that most of these manifestations initiate in the bone, the CT is the first line of image study. MRI is indicated in the evaluation of suspected agenesis, neuropathy, aplasia or hypoplasia of the vestibulocochlear nerve, often associated with this type of hearing loss. We present a case of a 6 year old patient with deep bilateral sensor neural hearing loss, with radiological studies to determine a potential candidate for a cochlear or auditory brainstem implant as hearing rehabilitation.

  17. impairs gap junction function causing congenital cataract

    Indian Academy of Sciences (India)

    Navya

    2017-03-24

    Mar 24, 2017 ... Connexin 46 (Cx46) is important for gap junction channels formation which plays crucial role in the preservation of lens homeostasis and transparency. Previously, we have identified a missense mutation. (p.V44M) of Cx46 in a congenital cataract family. This study aims at dissecting the potential.

  18. Congenital Heart Disease: Causes, Diagnosis, Symptoms, and Treatments.

    Science.gov (United States)

    Sun, RongRong; Liu, Min; Lu, Lei; Zheng, Yi; Zhang, Peiying

    2015-07-01

    The congenital heart disease includes abnormalities in heart structure that occur before birth. Such defects occur in the fetus while it is developing in the uterus during pregnancy. About 500,000 adults have congenital heart disease in USA (WebMD, Congenital heart defects medications, www.WebMD.com/heart-disease/tc/congenital-heart-defects-medications , 2014). 1 in every 100 children has defects in their heart due to genetic or chromosomal abnormalities, such as Down syndrome. The excessive alcohol consumption during pregnancy and use of medications, maternal viral infection, such as Rubella virus, measles (German), in the first trimester of pregnancy, all these are risk factors for congenital heart disease in children, and the risk increases if parent or sibling has a congenital heart defect. These are heart valves defects, atrial and ventricular septa defects, stenosis, the heart muscle abnormalities, and a hole inside wall of the heart which causes defect in blood circulation, heart failure, and eventual death. There are no particular symptoms of congenital heart disease, but shortness of breath and limited ability to do exercise, fatigue, abnormal sound of heart as heart murmur, which is diagnosed by a physician while listening to the heart beats. The echocardiogram or transesophageal echocardiogram, electrocardiogram, chest X-ray, cardiac catheterization, and MRI methods are used to detect congenital heart disease. Several medications are given depending on the severity of this disease, and catheter method and surgery are required for serious cases to repair heart valves or heart transplantation as in endocarditis. For genetic study, first DNA is extracted from blood followed by DNA sequence analysis and any defect in nucleotide sequence of DNA is determined. For congenital heart disease, genes in chromosome 1 show some defects in nucleotide sequence. In this review the causes, diagnosis, symptoms, and treatments of congenital heart disease are described.

  19. Genetic causes of congenital brain malformations in epilepsy patients

    DEFF Research Database (Denmark)

    Møller, Rikke Steensbjerre

    2008-01-01

    The search for genetic causes of congenital brain malformations, severe epilepsy and mental retardation plays an important role in neuropediatrics and neurology. Disclosure of the aetiology of the intellectual disabilities, seizures and the underlying brain malformation may be of psychological...... genes for developmental brain defects. The overall aim of the present study has been to identify new candidate genes or predisposing factors involved in congenital brain malformations in epilepsy patients....

  20. Congenital malformations of the inner ear and the vestibulocochlear nerve in children with sensorineural hearing loss: evaluation with CT and MRI.

    Science.gov (United States)

    Westerhof, J P; Rademaker, J; Weber, B P; Becker, H

    2001-01-01

    The purpose of this work was to study the diagnostic value of CT and MRI in children with sensorineural hearing loss and to analyze anatomic abnormalities of the inner ear and the vestibulocochlear nerve in this patient group. We evaluated 42 inner ears in 21 children with congenital deafness who had congenital inner ear malformations and who were candidates for cochlear implants. All patients were studied with high resolution MR and helical CT examinations. The MR study included a T2-weighted 3D fast SE sequence. We describe and tabulate the anatomic abnormalities. Special attention was given to abnormalities of the vestibulocochlear nerve. The field of view in the plane according to the length axis of the internal auditory canal (IAC) was 4 cm. Additional continuous parasagittal reformations perpendicular to the length axis of the IAC were studied with a field of view of 3 cm. CT and MRI allowed accurate identification of malformations of the inner ear in children with congenital deafness. We identified 99 malformations, with a majority of patients demonstrating multiple abnormalities. Common imaging findings were Mondini abnormality and Mondini variants (12/42) and fusion of the lateral or superior semicircular canal with the vestibule (12/42). MRI demonstrated in 9 of 21 patients a rudimentary or absent vestibulocochlear nerve in the auditory canal. CT and MRI are important modalities to analyze the inner ear in children who are candidates for cochlear implants. MRI with an extremely small field of view should be used to study possible abnormalities of the vestibulocochlear nerves. This may alter clinical care and allow cochlear implant placement in patients whose electrodiagnostic studies suggest that the implant should not be performed. The detailed analysis of abnormalities of the inner ear might establish prognostic factors.

  1. Cleft palate caused by congenital teratoma.

    Science.gov (United States)

    Veyssière, Alexis; Streit, Libor; Traoré, Hamady; Bénateau, Hervé

    2017-02-01

    A cleft palate results from incomplete fusion of the lateral palatine processes, the median nasal septum and the median palatine process. This case report describes a rare case of congenital teratoma originating from the nasal septum that may have interfered with the fusion of the palatal shelves during embryonic development, resulting in a cleft palate. An infant girl was born at 40 weeks of gestation weighing 3020 g with a complete cleft palate associated with a large central nasopharyngeal tumour. Computed tomography (CT) of the head showed a well defined mass of mixed density. The tumour was attached to the nasal septum in direct contact with the cleft palate. A biopsy confirmed the teratoma. Tumour resection was performed at 5 months, soft palate reconstruction at 7 months and hard palate closure at 14 months. There was no sign of local recurrence 1 year later. Most teratomas are benign and the prognosis is usually good. However, recurrence is not rare if germ cell carcinomatous foci are present within the teratoma. For these reasons, we advocate the use of a two-stage procedure in which closure of the cleft palate is postponed until histological examination confirms complete excision of the teratoma.

  2. Haploinsufficiency of TAB2 causes congenital heart defects in humans

    DEFF Research Database (Denmark)

    Thienpont, Bernard; Zhang, Litu; Postma, Alex V

    2010-01-01

    Congenital heart defects (CHDs) are the most common major developmental anomalies and the most frequent cause for perinatal mortality, but their etiology remains often obscure. We identified a locus for CHDs on 6q24-q25. Genotype-phenotype correlations in 12 patients carrying a chromosomal deletion...

  3. Congenital Laryngeal Cyst: A Rare Cause of Polyhydramnios

    OpenAIRE

    Hatice Tatar Aksoy; Nilda Süslü; Gamze Demirel; İstemihan Çelik; Fuat Emre Canpolat; Ömer Erdeve; Umut Akyol; Ugur Dilmen

    2013-01-01

    Congenital laryngeal cyst is a rare cause of airway obstruction that may require urgent diagnosis and treatment. We report a case of a neonate having history of polyhydramnios and severe respiratory distress at birth. A laryngeal cyst detected during intubation. The outcome of laryngoscopic treatment of the cyst was favorable.

  4. Congenital Laryngeal Cyst: A Rare Cause of Polyhydramnios

    Science.gov (United States)

    Süslü, Nilda; Demirel, Gamze; Çelik, İstemihan; Canpolat, Fuat Emre; Erdeve, Ömer; Akyol, Umut; Dilmen, Ugur

    2013-01-01

    Congenital laryngeal cyst is a rare cause of airway obstruction that may require urgent diagnosis and treatment. We report a case of a neonate having history of polyhydramnios and severe respiratory distress at birth. A laryngeal cyst detected during intubation. The outcome of laryngoscopic treatment of the cyst was favorable. PMID:24040590

  5. Histopathology of the Human Inner Ear in a Patient With Sensorineural Hearing Loss Caused by a Variant in DFNA5.

    Science.gov (United States)

    Nadol, Joseph B; Handzel, Ophir; Amr, Sami

    2015-12-01

    Describe the histopathology of the inner ear in a patient with hearing loss caused by a pathogenic variant of the DFNA5 gene. Variants in DFNA5 have been described as causing an autosomal dominant nonsyndromic sensorineural hearing loss. To date, there has been no description of the histopathology of the inner ear in humans with hearing loss because of pathogenic variants in DFNA5. Temporal bone histopathology by light microscopy, next-generation sequencing (NGS) of DNA obtained from blood, and Sanger sequencing of DNA obtained from formalin fixed temporal bone sections. Both the temporal bone donor and her daughter were shown to have the same pathogenic variant in the DFNA5 gene. The principal histopathologic correlates of the hearing loss were loss of the inner and outer hair cells and severe degeneration of the stria vascularis and spiral ligament throughout the cochlea. In addition, there was severe degeneration of spiral ganglion cells, particularly in the basal turn, and degeneration of vestibular neuroepithelium and neurons. The donor had undergone unilateral cochlear implantation during life. Histopathology demonstrated that the cochlear implant was inserted into the scala vestibuli with considerable new bone formation around the track of the implanted electrode. This is the first report of the histopathology of the inner ear in a patient with hearing loss caused by a pathogenic variant in the DFNA5 gene.

  6. Newborn Dried Blood Spot Polymerase Chain Reaction to Identify Infants with Congenital Cytomegalovirus-Associated Sensorineural Hearing Loss.

    Science.gov (United States)

    Ross, Shannon A; Ahmed, Amina; Palmer, April L; Michaels, Marian G; Sánchez, Pablo J; Stewart, Audra; Bernstein, David I; Feja, Kristina; Fowler, Karen B; Boppana, Suresh B

    2017-05-01

    To determine the utility of dried blood spot (DBS) polymerase chain reaction (PCR) in identifying infants with cytomegalovirus (CMV) infection-associated sensorineural hearing loss (SNHL). Newborns at 7 US hospitals between March 2007 and March 2012 were screened for CMV by saliva rapid culture and/or PCR. Infected infants were monitored for SNHL during the first 4 years of life to determine sensitivity, specificity, and positive and negative likelihood ratios of DBS PCR for identifying CMV-associated SNHL. DBS at birth was positive in 11 of 26 children (42%) with SNHL at age 4 years and in 72 of 270 children (27%) with normal hearing (P = .11). The sensitivity (42.3%; 95% CI, 23.4%-63.1%) and specificity (73.3%; 95% CI, 67.6%-78.5%) was low for DBS PCR in identifying children with SNHL at age 4 years. The positive and negative likelihood ratios of DBS PCR positivity to detect CMV-associated SNHL at age 4 years were 1.6 (95% CI, 0.97-2.6) and 0.8 (95% CI, 0.6-1.1), respectively. There was no difference in DBS viral loads between children with SNHL and those without SNHL. DBS PCR for CMV has low sensitivity and specificity for identifying infants with CMV-associated hearing loss. These findings, together with previous reports, demonstrate that DBS PCR does not identify either the majority of CMV-infected newborns or those with CMV-associated SNHL early in life. Copyright © 2017 Elsevier Inc. All rights reserved.

  7. Congenital Hepatic Fibrosis: An Uncommon Cause of Chronic Renal Failure

    Directory of Open Access Journals (Sweden)

    A Azarfar

    2014-04-01

    Full Text Available Congenital Hepatic Fibrosis (CHF is a rare disease that affects both the liver and kidneys.  Congenital hepatic fibrosis (CHF is an autosomal recessive inherited malformation defined pathologically by a variable degree of periportal fibrosis and irregularly shaped proliferating bile ducts. Affected individuals also have impaired renal function, usually caused, in children and teenagers, by an autosomal recessive polycystic kidney disease (ARPKD. Impaired renal function associated with CHF in adults is caused by an autosomal dominant polycystic kidney disease (ADPKD. Case presentation: We report the case of a 8-year-old Iranian girlwas admitted to our hospital for evaluation ofrenal failure. In patient hepatomegaly was noted incidentally on a routine physical examination and then kidney biopsy showed global sclerosis and   A liver biopsy revealed proliferation of collagen fibres surrounding the portal area, a finding that was compatible with congenital hepatic fibrosisand our patient was scheduled for kidney and  liver transplantation. Conclusion: The relationship of ARPKD to CHF is the subject of substantial controversy. Some clinicians suggest that the two conditions represent one disorder with a range of clinical/pathological presentations Key word: Congenital Hepatic Fibrosis Polycystic Kidney Disease, CRF.

  8. Congenital myopathy is caused by mutation of HACD1.

    Science.gov (United States)

    Muhammad, Emad; Reish, Orit; Ohno, Yusuke; Scheetz, Todd; Deluca, Adam; Searby, Charles; Regev, Miriam; Benyamini, Lilach; Fellig, Yakov; Kihara, Akio; Sheffield, Val C; Parvari, Ruti

    2013-12-20

    Congenital myopathies are heterogeneous inherited diseases of muscle characterized by a range of distinctive histologic abnormalities. We have studied a consanguineous family with congenital myopathy. Genome-wide linkage analysis and whole-exome sequencing identified a homozygous non-sense mutation in 3-hydroxyacyl-CoA dehydratase 1 (HACD1) in affected individuals. The mutation results in non-sense mediated decay of the HACD1 mRNA to 31% of control levels in patient muscle and completely abrogates the enzymatic activity of dehydration of 3-hydroxyacyl-CoA, the third step in the elongation of very long-chain fatty acids (VLCFAs). We describe clinical findings correlated with a deleterious mutation in a gene not previously known to be associated with congenital myopathy in humans. We suggest that the mutation in the HACD1 gene causes a reduction in the synthesis of VLCFAs, which are components of membrane lipids and participants in physiological processes, leading to congenital myopathy. These data indicate that HACD1 is necessary for muscle function.

  9. [Causes of death in congenital hypothyroidism. An autopsy study].

    Science.gov (United States)

    Ridaura-Sanz, C; López-Corella, E

    1995-01-01

    Children with congenital hypothyroidism are prone to die unexpectedly. In order to test this hypothesis, the primary and contributing causes of death were studied in a case series of sixteen consecutive children coming to autopsy. Four patients with absent thyroid died undiagnosed and untreated. The remaining twelve cases had documented hypothyroidism with low T3 and T4 levels. Diagnosis was established after the age of two months. Nine of the sixteen cases died unexpectedly, three while in the hospital and six at home. Autopsy findings suggested bronchoaspiration in five and heart failure in four. The remaining seven cases died under predictable circumstances with serious infections. Children with congenital hypothyroidism with delayed treatment may die unexpectedly as a result of the organic dysfunction caused by their primary disease.

  10. Catastrophic Intramedullary Abscess Caused by a Missed Congenital Dermal Sinus

    OpenAIRE

    Dho, Yun-Sik; Kim, Seung-Ki; Wang, Kyu-Chang; Phi, Ji Hoon

    2015-01-01

    Congenital dermal sinus (CDS) is a type of occult spinal dysraphism characterized by a midline skin dimple. A 12-month-old girl presented with fever and ascending quadriparesis. She had a midline skin dimple in the upper sacral area that had been discovered in her neonatal period. Imaging studies revealed a holocord intramedullary abscess and CDS. Overlooking CDS or misdiagnosing it as benign sacrococcygeal dimple may lead to catastrophic infection and cause serious neurological deficits. The...

  11. Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss.

    NARCIS (Netherlands)

    Bespalova, I.N.; Camp, G. van; Bom, S.J.H.; Brown, D.J.; Cryns, K.; Wan, A.T. de; Erson, A.E.; Flothmann, K.; Kunst, H.P.M.; Kurnool, P.; Sivakumaran, T.A.; Cremers, C.W.R.J.; Leal, S.M.; Burmeister, M.; Lesperance, M.M.

    2001-01-01

    Non-syndromic low frequency sensorineural hearing loss (LFSNHL) affecting only 2000 Hz and below is an unusual type of hearing loss that worsens over time without progressing to profound deafness. This type of LFSNHL may be associated with mild tinnitus but is not associated with vertigo. We have

  12. Catastrophic intramedullary abscess caused by a missed congenital dermal sinus.

    Science.gov (United States)

    Dho, Yun-Sik; Kim, Seung-Ki; Wang, Kyu-Chang; Phi, Ji Hoon

    2015-03-01

    Congenital dermal sinus (CDS) is a type of occult spinal dysraphism characterized by a midline skin dimple. A 12-month-old girl presented with fever and ascending quadriparesis. She had a midline skin dimple in the upper sacral area that had been discovered in her neonatal period. Imaging studies revealed a holocord intramedullary abscess and CDS. Overlooking CDS or misdiagnosing it as benign sacrococcygeal dimple may lead to catastrophic infection and cause serious neurological deficits. Therefore, further imaging work-up or consultation with a pediatric neurosurgeon is recommended following discovery of any atypical-looking dimples in the midline.

  13. Genetic causes of congenital brain malformations in epilepsy patients

    DEFF Research Database (Denmark)

    Møller, Rikke Steensbjerre

    2008-01-01

    value for the family, and it is essential for proper genetic counselling. The human brain is one of the most complex structures known, and probably many of the 25.000- 30.000 genes that comprise the human genome are involved in its development, which means that thousands of genes could be candidate......The search for genetic causes of congenital brain malformations, severe epilepsy and mental retardation plays an important role in neuropediatrics and neurology. Disclosure of the aetiology of the intellectual disabilities, seizures and the underlying brain malformation may be of psychological...

  14. Sudden Sensorineural Hearing Loss

    Science.gov (United States)

    Kuhn, Maggie; Heman-Ackah, Selena E.; Shaikh, Jamil A.

    2011-01-01

    Sudden sensorineural hearing loss (SSNHL) is commonly encountered in audiologic and otolaryngologic practice. SSNHL is most commonly defined as sensorineural hearing loss of 30dB or greater over at least three contiguous audiometric frequencies occurring within a 72-hr period. Although the differential for SSNHL is vast, for the majority of patients an etiologic factor is not identified. Treatment for SSNHL of known etiology is directed toward that agent, with poor hearing outcomes characteristic for discoverable etiologies that cause inner ear hair cell loss. Steroid therapy is the current mainstay of treatment of idiopathic SSNHL in the United States. The prognosis for hearing recovery for idiopathic SSNHL is dependent on a number of factors including the severity of hearing loss, age, presence of vertigo, and shape of the audiogram. PMID:21606048

  15. Neonatal screening and a new cause of congenital central hypothyroidism

    Directory of Open Access Journals (Sweden)

    Toshihiro Tajima

    2014-09-01

    Full Text Available Congenital central hypothyroidism (C-CH is a rare disease in which thyroid hormone deficiency is caused by insufficient thyrotropin (TSH stimulation of a normally-located thyroid gland. Most patients with C-CH have low free thyroxine levels and inappropriately low or normal TSH levels, although a few have slightly elevated TSH levels. Autosomal recessive TSH deficiency and thyrotropin-releasing hormone receptor-inactivating mutations are known to be genetic causes of C-CH presenting in the absence of other syndromes. Recently, deficiency of the immunoglobulin superfamily member 1 (IGSF1 has also been demonstrated to cause C-CH. IGSF1 is a plasma membrane glycoprotein highly expressed in the pituitary. Its physiological role in humans remains unknown. IGSF1 deficiency causes TSH deficiency, leading to hypothyroidism. In addition, approximately 60% of patients also suffer a prolactin deficiency. Moreover, macroorchidism and delayed puberty are characteristic features. Thus, although the precise pathophysiology of IGSF1 deficiency is not established, IGSF1 is considered to be a new factor controlling growth and puberty in children.

  16. Hearing impairment in children with congenital cytomegalovirus (CMV) infection based on distortion product otoacoustic emissions (DPOAE) and brain evoked response audiometry stimulus click (BERA Click) examinations

    Science.gov (United States)

    Airlangga, T. J.; Mangunatmadja, I.; Prihartono, J.; Zizlavsky, S.

    2017-08-01

    Congenital cytomegalovirus (congenital CMV) infection is a leading factor of nongenetic sensorineural hearing loss in children. Hearing loss caused by CMV infection does not have a pathognomonic configuration hence further research is needed. The development of knowledge on hearing loss caused by congenital CMV infection is progressing in many countries. Due to a lack of research in the context of Indonesia, this study assesses hearing impairment in children with congenital CMV infection in Indonesia, more specifically in the Cipto Mangunkusumo Hospital. Our objective was to profile hearing impairment in children 0-5 years of age with congenital CMV infection using Distortion Product Otoacoustic Emissions (DPOAE) and Brain Evoked Response Audiometry Stimulus Click (BERA Click) examinations. This cross-sectional study was conducted in the Cipto Mangunkusum Hospital from November, 2015 to May 2016 with 27 children 0-5 years of age with congenital CMV infection. Of individual ears studied, 58.0% exhibited sensorineural hearing loss. There was a significant relationship between developmental delay and incidence of sensorineural hearing loss. Subjects with a developmental delay were 6.57 times more likely (CI 95%; 1.88-22.87) to experience sensorineural hearing loss. Congenital CMV infection has an important role in causing sensorineural hearing loss in children.

  17. Novel genetic variants in the TPO gene cause congenital hypothyroidism.

    Science.gov (United States)

    Ma, Shao-Gang; Qiu, Ya-Li; Zhu, Hong; Liu, Hong; Li, Qing; Ji, Chun-Mei

    2015-01-01

    Mutations in the dual oxidase maturation factor 2 (DUOXA2) and thyroid peroxidase (TPO) genes have been reported to cause goitrous congenital hypothyroidism (GCH). The aim of this study was to determine the genetic basis of GCH in affected children. Thirty children with GCH were enrolled for molecular analysis of the DUOXA2 and TPO genes. All subjects underwent clinical examination and laboratory testing. Genomic DNA was extracted from peripheral blood leukocytes, and Sanger sequencing was used to screen for DUOXA2 and TPO gene mutations in the exon fragments amplified from the extracted DNA. Family members of those patients with mutations were also enrolled and evaluated. Analysis of the TPO gene revealed six genetic variants, including two novel heterozygous mutations, c.1970T> C (p.I657T) and c.2665G> T (p.G889X), and four mutations that have been reported previously (c.670_672del, c.2268dup, c.2266T> C and c.2647C> T). Three patients harbored the same mutation c.2268dup. The germline mutations from four unrelated families were consistent with an autosomal recessive inheritance pattern. Conversely, no mutations in the DUOXA2 gene were detected. Two novel inactivating mutations (c.1970T> C and c.2665G> T) in the TPO gene were identified. The c.2268dup mutation occurred frequently. No mutations in the DUOXA2 gene were detected in this study.

  18. Congenital myopathy is caused by mutation of HACD1

    OpenAIRE

    Muhammad, Emad; Reish, Orit; Ohno, Yusuke; Scheetz, Todd; DeLuca, Adam; Searby, Charles; Regev, Miriam; Benyamini, Lilach; Fellig, Yakov; Kihara, Akio; Sheffield, Val C.; Parvari, Ruti

    2013-01-01

    Congenital myopathies are heterogeneous inherited diseases of muscle characterized by a range of distinctive histologic abnormalities. We have studied a consanguineous family with congenital myopathy. Genome-wide linkage analysis and whole-exome sequencing identified a homozygous non-sense mutation in 3-hydroxyacyl-CoA dehydratase 1 (HACD1) in affected individuals. The mutation results in non-sense mediated decay of the HACD1 mRNA to 31% of control levels in patient muscle and completely abro...

  19. Incidence of environmental and genetic factors causing congenital cataract in Children of Lahore.

    Science.gov (United States)

    Naz, Shagufta; Sharif, Saima; Badar, Hafsa; Rashid, Farzana; Kaleem, Afshan; Iqtedar, Mehwish

    2016-07-01

    To check the incidence of environmental and genetic factors causing congenital cataract in infants. The descriptive study was conducted at Layton Rahmatullah Benevolent Trust, Lahore, Pakistan, from October 2013 to April 2014, and comprised children under 15 years of age who had rubella syndrome, herpes simplex, birth trauma, trisomy 21, Nance-Horan syndrome or Lowe's syndrome. Of the 38,000 cases examined, 120(0.3%) patients were diagnosed with congenital cataract. Of them, 52(43.33%)were aged between 2 and 5 years,22(18.33%) <11 years and 10(8.33%) ?15 years. Bilateral congenital cataract was observed in 91(75.83%) patients and unilateral congenital cataract in 29(24.17%). Environmental factors caused 72(62.07%) cases and genetic factors caused 44(37.93%).. Congenital cataract predominated in boys compared to girls. Early diagnosis and adequate therapy requires specific technology, as well as long-term and permanent care..

  20. Atypical Porcine Pestivirus: A Possible Cause of Congenital Tremor Type A-II in Newborn Piglets

    NARCIS (Netherlands)

    de Groof, Ad; Deijs, Martin; Guelen, Lars; van Grinsven, Lotte; van Os-Galdos, Laura; Vogels, Wannes; Derks, Carmen; Cruijsen, Toine; Geurts, Victor; Vrijenhoek, Mieke; Suijskens, Janneke; van Doorn, Peter; van Leengoed, Leo; Schrier, Carla; van der Hoek, Lia

    2016-01-01

    Congenital tremor type A-II in piglets has been regarded as a transmissible disease since the 1970s, possibly caused by a very recently-described virus: atypical porcine pestivirus (APPV). Here, we describe several strains of APPV in piglets with clinical signs of congenital tremor (10 of 10 farms

  1. Common congenital anomalies: Environmental causes and prevention with folic acid containing multivitamins.

    Science.gov (United States)

    Sarmah, Swapnalee; Muralidharan, Pooja; Marrs, James A

    2016-09-01

    Congenital anomalies, congenital defects, or birth defects are significant causes of death in infants. The most common congenital defects are congenital heart defects (CHDs) and neural tube defects (NTDs). Defects induced by genetic mutations, environmental exposure to toxins, or a combination of these effects can result in congenital malformations, leading to infant death or long-term disabilities. These defects produce significant mortality and morbidity in the affected individuals, and families are affected emotional and financially. Also, society is impacted on many levels. Congenital anomalies may be reduced by dietary supplements of folic acid and other vitamins. Here, we review the evidence for specific roles of toxins (alcohol, cigarette smoke) in causing common severe congenital anomalies like CHDs, NTDs, and ocular defects. We also review the evidence for beneficial effects for dietary supplementation, and highlight gaps in our knowledge, where research may contribute to additional benefits of intervention that can reduce birth defects. Extensive discussion of common severe congenital anomalies (CHDs, NTDs, and ocular defects) illustrates the effects of diet on the frequency and severity of these defects. Birth Defects Research (Part C) 108:274-286, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  2. Atypical Porcine Pestivirus: A Possible Cause of Congenital Tremor Type A‐II in Newborn Piglets

    Directory of Open Access Journals (Sweden)

    Ad de Groof

    2016-10-01

    Full Text Available Congenital tremor type A‐II in piglets has been regarded as a transmissible disease since the 1970s, possibly caused by a very recently‐described virus: atypical porcine pestivirus (APPV. Here, we describe several strains of APPV in piglets with clinical signs of congenital tremor (10 of 10 farms tested. Piglets on a farm with no history of congenital tremor were PCR‐negative for the virus. To demonstrate a causal relationship between APPV and disease, three gilts were inoculated via intramuscular injection at day 32 of pregnancy. In two of the three litters, vertical transmission of the virus occurred. Clinical signs of congenital tremor were observed in APPV‐infected newborns, yet also two asymptomatic carriers were among the offspring. Piglets of one litter were PCR‐negative for the virus, and these piglets were all without congenital tremors. Long‐term follow up of farm piglets born with congenital tremors showed that the initially high viremia in serum declines at five months of age, but shedding of the virus in feces continues, which explains why the virus remains present at affected farms and causes new outbreaks. We conclude that trans‐placental transmission of APPV and subsequent infection of the fetuses is a very likely cause of congenital tremor type A‐II in piglets.

  3. Atypical Porcine Pestivirus: A Possible Cause of Congenital Tremor Type A-II in Newborn Piglets.

    Science.gov (United States)

    de Groof, Ad; Deijs, Martin; Guelen, Lars; van Grinsven, Lotte; van Os-Galdos, Laura; Vogels, Wannes; Derks, Carmen; Cruijsen, Toine; Geurts, Victor; Vrijenhoek, Mieke; Suijskens, Janneke; van Doorn, Peter; van Leengoed, Leo; Schrier, Carla; van der Hoek, Lia

    2016-10-04

    Congenital tremor type A-II in piglets has been regarded as a transmissible disease since the 1970s, possibly caused by a very recently-described virus: atypical porcine pestivirus (APPV). Here, we describe several strains of APPV in piglets with clinical signs of congenital tremor (10 of 10 farms tested). Piglets on a farm with no history of congenital tremor were PCR-negative for the virus. To demonstrate a causal relationship between APPV and disease, three gilts were inoculated via intramuscular injection at day 32 of pregnancy. In two of the three litters, vertical transmission of the virus occurred. Clinical signs of congenital tremor were observed in APPV-infected newborns, yet also two asymptomatic carriers were among the offspring. Piglets of one litter were PCR-negative for the virus, and these piglets were all without congenital tremors. Long-term follow up of farm piglets born with congenital tremors showed that the initially high viremia in serum declines at five months of age, but shedding of the virus in feces continues, which explains why the virus remains present at affected farms and causes new outbreaks. We conclude that trans-placental transmission of APPV and subsequent infection of the fetuses is a very likely cause of congenital tremor type A-II in piglets.

  4. A Rare Cause of Congenital Hypotonia: Walker Warburg Syndrome

    OpenAIRE

    Cigdem Sivrice

    2014-01-01

    Walker-Warburg syndrome (WWS) is an autosomal recessive rare muscle disease which characterized by type 2 lissencephaly, cerebellar abnormalities, and congenital muscular dystrophy of the retinal abnormalities. In this article, we described a patient who born from 1st degree consanguineous marriage mother and father and admitted to our hospital suction weakness and had been diagnosed Walker- Warburg syndrome with physical examination and laboratory tests as a result of severe hypotonia, atypi...

  5. Non-syndromic sensorineural prelingual deafness: the importance of genetic counseling in demystifying parents' beliefs about the cause of their children's deafness.

    Science.gov (United States)

    Rodrigues, Fidjy; Paneque, Milena; Reis, Cláudia; Venâncio, Margarida; Sequeiros, Jorge; Saraiva, Jorge

    2013-08-01

    Recent advances in molecular genetics have allowed the determination of the genetic cause of some childhood non-syndromic deafness. In Portugal only a small proportion of families are referred to a clinical genetics service in order to clarify the etiology of the deafness and to provide genetic counseling. Consequently, there are no published studies of the prior beliefs of parents about the causes of hereditary deafness of their children and their genetic knowledge after receipt of genetic counseling. In order to evaluate the impact of genetic counseling, 44 parents of 24 children with the diagnosis of non-syndromic sensorineural prelingual deafness due to mutations in the GJB2 (connexin 26), completed surveys before and after genetic counseling. Before counseling 13.6 % of the parents knew the cause of deafness; at a post-counseling setting this percentage was significantly higher, with 84.1 % of the parents accurately identifying the etiology. No significant differences were found between the answers of mothers and fathers either before or after genetic counseling. Parents' level of education was a significant factor in pre-test knowledge. After genetic counseling 95.5 % of the parents stated that the consultation had met their expectations, 70.5 % remembered correctly the inheritance pattern, and 93.2 % correctly recalled the chance of risk of deafness. These results underline the importance of genetic counseling in demystifying parents' beliefs about the etiology of their children's deafness.

  6. A Rare Cause of Congenital Hypotonia: Walker Warburg Syndrome

    Directory of Open Access Journals (Sweden)

    Cigdem Sivrice

    2014-08-01

    Full Text Available Walker-Warburg syndrome (WWS is an autosomal recessive rare muscle disease which characterized by type 2 lissencephaly, cerebellar abnormalities, and congenital muscular dystrophy of the retinal abnormalities. In this article, we described a patient who born from 1st degree consanguineous marriage mother and father and admitted to our hospital suction weakness and had been diagnosed Walker- Warburg syndrome with physical examination and laboratory tests as a result of severe hypotonia, atypical facial appearance, accompanying eye and brain abnormalities are very high serum creatine phosphokinase levels and wanted to draw attention to this rare muscle disease in the differential diagnosis of hypotonic infants.

  7. Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans.

    Science.gov (United States)

    Berry, Vanita; Gregory-Evans, Cheryl; Emmett, Warren; Waseem, Naushin; Raby, Jacob; Prescott, DeQuincy; Moore, Anthony T; Bhattacharya, Shomi S

    2013-12-01

    Congenital cataracts are an important cause of bilateral visual impairment in infants. Through genome-wide linkage analysis in a four-generation family of Irish descent, the disease-associated gene causing autosomal-dominant congenital nuclear cataract was mapped to chromosome 4p16.1. The maximum logarithm of odds (LOD) score was 2.62 at a recombination fraction θ=0, obtained for marker D4S432 physically close to the Wolfram gene (WFS1). By sequencing the coding regions and intron-exon boundaries of WFS1, we identified a DNA substitution (c.1385A-to-G) in exon 8, causing a missense mutation at codon 462 (E462G) of the Wolframin protein. This is the first report of a mutation in this gene causing an isolated nuclear congenital cataract. These findings suggest that the membrane trafficking protein Wolframin may be important for supporting the developing lens.

  8. Extremely rare cause of congenital diarrhea: enteric anendocrinosis.

    Science.gov (United States)

    Sayar, Ersin; Islek, Ali; Yilmaz, Aygen; Akcam, Mustafa; Flanagan, Sarah E; Artan, Reha

    2013-10-01

    Congenital diarrheal disorders consist of a variety of chronic enteropathies. There are approximately 30 different diseases that can be classified into four groups according to the mechanisms involved in pathogenesis: (i) absorption and transport of nutrients and electrolytes; (ii) enterocyte differentiation and polarization; (iii) enteroendocrine cell differentiation; and (iv) modulation of the intestinal immune response. Affected patients often present with life-threatening diarrhea, in the first few weeks of life. A new disorder, enteric anendocrinosis, which is characterized by severe malabsorptive diarrhea and a lack of intestinal enteroendocrine cells has recently been described in six patients with recessively inherited mutations in the Neurogenin-3 gene. In this report we describe a seventh case with a review of the literature. © 2013 The Authors. Pediatrics International © 2013 Japan Pediatric Society.

  9. First estimates of the potential cost and cost saving of protecting childhood hearing from damage caused by congenital CMV infection.

    Science.gov (United States)

    Williams, Eleri J; Gray, Joanne; Luck, Suzanne; Atkinson, Claire; Embleton, Nicholas D; Kadambari, Seilesh; Davis, Adrian; Griffiths, Paul; Sharland, Mike; Berrington, Janet E; Clark, Julia E

    2015-11-01

    Congenital cytomegalovirus (cCMV) is an important cause of childhood deafness, which is modifiable if diagnosed within the first month of life. Targeted screening of infants who do not pass their newborn hearing screening tests in England is a feasible approach to identify and treat cases to improve hearing outcome. To conduct a cost analysis of targeted screening and subsequent treatment for cCMV-related sensorineural hearing loss (SNHL) in an, otherwise, asymptomatic infant, from the perspective of the UK National Health Service (NHS). Using data from the newborn hearing screening programme (NHSP) in England and a recent study of targeted screening for cCMV using salivary swabs within the NHSP, we estimate the cost (in UK pounds (£)) to the NHS. The cost of screening (time, swabs and PCR), assessing, treating and following up cases is calculated. The cost per case of preventing hearing deterioration secondary to cCMV with targeted screening is calculated. The cost of identifying, assessing and treating a case of cCMV-related SNHL through targeted cCMV screening is estimated to be £6683. The cost of improving hearing outcome for an infant with cCMV-related SNHL through targeted screening and treatment is estimated at £14 202. The costs of targeted screening for cCMV using salivary swabs integrated within NHSP resulted in an estimate of cost per case that compares favourably with other screening programmes. This could be used in future studies to estimate the full economic value in terms of incremental costs and incremental health benefits. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  10. Methadone Induced Sensorineural Hearing Loss

    Directory of Open Access Journals (Sweden)

    Chadi Saifan

    2013-01-01

    Full Text Available Background. Sudden sensorineural hearing loss (SSHL caused by opiate abuse or overuse has been well documented in the medical literature. Most documented case reports have involved either heroin or hydrocodone/acetaminophen. Recently, case reposts of methadone induced SSHL have been published. Case Report. We present the case of a 31-year-old man who developed SSHL after a methadone overdose induced stupor. He was subsequently restarted on methadone at his regular dose. On follow-up audiometry exams, he displayed persistent moderately severe sensorineural hearing loss bilaterally. Discussion. This case is notable because unlike all but one previously reported case, the patient—who was restated on methadone—did not make a complete recovery. Conclusion. Methadone overuse in rare cases causes SSHL.

  11. Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice

    NARCIS (Netherlands)

    Boldt, K.; Mans, D.A.; Won, J.; Reeuwijk, J. van; Vogt, A.; Kinkl, N.; Letteboer, S.J.F.; Hicks, W.L.; Hurd, R.E.; Naggert, J.K.; Texier, Y.; Hollander, A.I. den; Koenekoop, R.K.; Bennett, J.; Cremers, F.P.M.; Gloeckner, C.J.; Nishina, P.M.; Roepman, R.; Ueffing, M.

    2011-01-01

    The mutations that cause Leber congenital amaurosis (LCA) lead to photoreceptor cell death at an early age, causing childhood blindness. To unravel the molecular basis of LCA, we analyzed how mutations in LCA5 affect the connectivity of the encoded protein lebercilin at the interactome level. In

  12. Rarely seen nasal congenital problems causing neonatal upper respiratory obstruction: a case series

    Directory of Open Access Journals (Sweden)

    Yeşim Başal

    2016-03-01

    Full Text Available Since newborns are obligatory nasal breathers, upper respiratory tract problems may sometimes be life threatening. The most common pathology causing dyspnea and stridor in newborns is laryngomalacia. Nasal cavity pathologies that risk the neonatal airway are more rarely met. These anomalies may be seen either as solitary anomalies or as a part of a syndrome. While choanal atresia is one of the best-known nasal cavity anomalies, choanal stenosis, congenital nasal mid-line masses, congenital nasal pyriform aperture stenosis, and nasal tip anomalies are more rarely seen structural pathologies. Choanal atresia may be present either as an isolated congenital anomaly or as a part of CHARGE syndrome. Some rare chromosome anomalies may also cause significant problems during nasal respiration in newborns. With this study, we presented a case series of newborns with pathologies that affected nasal respiration. Although the diagnosis and treatment of choanal atresia and congenital dacryocystocele are well known, the information on the diagnosis and treatment of the other two uncommon cases are limited. With this study, we aimed to contribute to the literature by presenting our approach in six cases having congenital pathologies that cause nasal respiratory obstruction.

  13. Macrocytosis and sudden sensorineural hearing loss: a case report.

    Science.gov (United States)

    McMurran, A E L; Adair, R A

    2015-11-01

    Although other blood dyscrasias are known to cause sudden sensorineural hearing loss, macrocytosis has not previously been implicated in the absence of another causative agent. We present a case of bilateral sequential sudden sensorineural hearing loss in a patient with significant macrocytosis (mean corpuscular volume at presentation 124 fl) secondary to alcohol-induced liver dysfunction. A possible pathophysiological mechanism linking macrocytosis and sudden sensorineural hearing loss was identified, suggesting areas for further investigation.

  14. CAUSES OF NON-OPTIMAL CONSERVATIVE TREATMENT OF CONGENITAL CLUBFOOT IN CHILDREN

    Directory of Open Access Journals (Sweden)

    V. M. Kenis

    2017-01-01

    Full Text Available Introduction. Ponseti method commonly accepted as the optimal approach to management of congenital clubfoot. Continuing with alternative methods should considered as malpractice. Aim: to assess causes of non-optimal treatment of congenital clubfoot in children.Materials and methods: Assessment group included 60 patients treated earlier in other clinics with non-optimal results. Control group included 60 patients treated in our clinic by Ponseti method. We used case history analysis and parents’ interviewing.Results. Family history of clubfoot and prenatal diagnosis positively influenced on the choice of Ponseti method. Primary consultancy of orthopedist and Internet search were main factors for choosing Ponseti method after birth. In contrast, the methods lead to non-optimal results chosen after maternity home and pediatricians.Conclusion. Main cause of non-optimal results of congenital clubfoot treatment is the lack of information regarding current approaches among non-orthopedic physicians, which emphasizes necessity of adequate informational support.

  15. Hyperbaric oxygen therapy for sudden sensorineural hearing loss in divers.

    Science.gov (United States)

    Van Der Wal, A W; Van Ooij, P J A M; De Ru, J A

    2016-11-01

    Sudden sensorineural hearing loss in divers may be caused by either inner-ear barotrauma or inner-ear decompression sickness. There is no consensus on the best treatment option. This study aimed to evaluate the therapeutic value of hyperbaric oxygen therapy for sudden sensorineural hearing loss in divers. A literature review and three cases of divers with sudden sensorineural hearing loss treated with hyperbaric oxygen therapy are presented. Hyperbaric oxygen therapy resulted in hearing improvement in 80 per cent of patients: 39 per cent had hearing improvement and 41 per cent had full recovery. Hyperbaric oxygen therapy improved hearing in divers with sudden sensorineural hearing loss.

  16. The haematocrit – an important factor causing impaired haemostasis in patients with cyanotic congenital heart disease

    DEFF Research Database (Denmark)

    Jensen, A S; Johansson, P I; Idorn, L

    2013-01-01

    BACKGROUND: Patients with cyanotic congenital heart disease(CCHD) have haemostatic abnormalities, which result in an increased risk of bleeding. The cause is unknown, but recent studies have indicated that an elevated haematocrit, which is present in cyanotic patients, could be an important factor...

  17. Congenital thrombotic thrombocytopenic purpura caused by new compound heterozygous mutations of the ADAMTS13 gene

    DEFF Research Database (Denmark)

    Rank, Cecilie Utke; Kremer Hovinga, Johanna; Taleghani, Magnus Mansouri

    2014-01-01

    Upshaw-Schulman syndrome (USS) is due to severe congenital deficiency of von Willebrand factor (VWF)-cleaving protease ADAMTS13 (a disintegrin and metalloprotease with thrombospondin type 1 domains, nr 13) activity resulting in the presence of unusually large forms of VWF in the circulation, caus...

  18. Congenital bladder diverticulum in a 28-year-old male: A rare cause ...

    African Journals Online (AJOL)

    Congenital bladder diverticulum in a 28-year-old male: A rare cause of urinary retention. G Sharma, G Sharma. Abstract. No Abstract. Full Text: EMAIL FREE FULL TEXT EMAIL FREE FULL TEXT · DOWNLOAD FULL TEXT DOWNLOAD FULL TEXT · AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for ...

  19. Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.

    NARCIS (Netherlands)

    Hollander, A.I. den; Koenekoop, R.K.; Mohamed, M.D.; Arts, H.H.; Boldt, K.; Towns, K.V.; Sedmak, T.; Beer, M. de; Nagel-Wolfrum, K.; McKibbin, M.; Dharmaraj, S.; Lopez, I.; Ivings, L.; Williams, G.A.; Springell, K.; Woods, C.G.; Jafri, H.; Rashid, Y.; Strom, T.M.; Zwaag, B. van der; Gosens, I.; Kersten, F.F.J.; Wijk, E. van; Veltman, J.A.; Zonneveld, M.N.; Beersum, S.E.C. van; Maumenee, I.H.; Wolfrum, U.; Cheetham, M.E.; Ueffing, M.; Cremers, F.P.M.; Inglehearn, C.F.; Roepman, R.

    2007-01-01

    Leber congenital amaurosis (LCA) causes blindness or severe visual impairment at or within a few months of birth. Here we show, using homozygosity mapping, that the LCA5 gene on chromosome 6q14, which encodes the previously unknown ciliary protein lebercilin, is associated with this disease. We

  20. Unrecognized Ingestion of Toxoplasma gondii Oocysts Leads to Congenital Toxoplasmosis and Causes Epidemics in North America

    Science.gov (United States)

    Boyer, Kenneth; Hill, Dolores; Mui, Ernest; Wroblewski, Kristen; Karrison, Theodore; Dubey, J. P.; Sautter, Mari; Noble, A. Gwendolyn; Withers, Shawn; Swisher, Charles; Heydemann, Peter; Hosten, Tiffany; Babiarz, Jane; Lee, Daniel

    2011-01-01

    (See the Editorial Commentary by Linn, on pages 1090–1.) Background. Congenital toxoplasmosis presents as severe, life-altering disease in North America. If mothers of infants with congenital toxoplasmosis could be identified by risks, it would provide strong support for educating pregnant women about risks, to eliminate this disease. Conversely, if not all risks are identifiable, undetectable risks are suggested. A new test detecting antibodies to sporozoites demonstrated that oocysts were the predominant source of Toxoplasma gondii infection in 4 North American epidemics and in mothers of children in the National Collaborative Chicago-based Congenital Toxoplasmosis Study (NCCCTS). This novel test offered the opportunity to determine whether risk factors or demographic characteristics could identify mothers infected with oocysts. Methods. Acutely infected mothers and their congenitally infected infants were evaluated, including in-person interviews concerning risks and evaluation of perinatal maternal serum samples. Results. Fifty-nine (78%) of 76 mothers of congenitally infected infants in NCCCTS had primary infection with oocysts. Only 49% of these mothers identified significant risk factors for sporozoite acquisition. Socioeconomic status, hometown size, maternal clinical presentations, and ethnicity were not reliable predictors. Conclusions. Undetected contamination of food and water by oocysts frequently causes human infections in North America. Risks are often unrecognized by those infected. Demographic characteristics did not identify oocyst infections. Thus, although education programs describing hygienic measures may be beneficial, they will not suffice to prevent the suffering and economic consequences associated with congenital toxoplasmosis. Only a vaccine or implementation of systematic serologic testing of pregnant women and newborns, followed by treatment, will prevent most congenital toxoplasmosis in North America. PMID:22021924

  1. Congenital goitrous primary hypothyroidism in two German families caused by novel thyroid peroxidase (TPO) gene mutations.

    Science.gov (United States)

    Altmann, K; Hermanns, P; Mühlenberg, R; Fricke-Otto, S; Wentzell, R; Pohlenz, J

    2013-06-01

    Congenital hypothyroidism occurs with a prevalence of approximately 1:3 500. Defects in thyroid hormone synthesis which lead to goitrous hypothyroidism account for 10-15% of these cases. Several genetic defects have been characterized and mutations in the thyroid peroxidase (TPO) gene are the most common cause for dyshormonogenesis.So far, more than 80 mutations in the TPO gene have been described, resulting in a variable decrease in TPO bioactivity. Clinically TPO defects manifest with congenital primary goitrous hypothyroidism.We here present 2 children with congenital primary hypothyroidism, who were identified to have compound heterozygous TPO mutations. They both shared the same novel mutation in the TPO gene (C756R) in exon 13. One case presented with an apparently dominant inheritance of thyroid dyshormonogenesis. © J. A. Barth Verlag in Georg Thieme Verlag KG Stuttgart · New York.

  2. Congenital cytomegalovirus - who, when, what-with and why to treat?

    Science.gov (United States)

    Lim, Yinru; Lyall, Hermione

    2017-06-01

    Congenital cytomegalovirus (CMV) is the commonest cause of congenital infection worldwide and the leading non-genetic cause of sensorineural hearing loss in children. Appropriate investigations and timely decision on treatment is required as studies have shown that treatment with antiviral therapy leads to improved hearing and neurodevelopmental outcomes in the long term when started in the first month of life. This paper outlines the epidemiology, investigations in the diagnosis of congenital CMV infection and current evidence surrounding treatment. © 2017 The British Infection Association. Published by Elsevier Ltd. All rights reserved.

  3. Vestibular dehiscence syndrome caused by a labyrinthine congenital cholesteatoma.

    Science.gov (United States)

    Fiorino, Francesco; Pizzini, Francesca B; Mattellini, Barbara; Barbieri, Franco

    2015-02-01

    A 40-year-old man presented with conductive hearing loss and pressure- and sound-related vestibular symptoms. Computed tomography and diffusion-weighted magnetic resonance imaging revealed the presence of a cholesteatoma involving the vestibular labyrinth. The patient underwent a canal-wall-up tympanoplasty, which revealed evidence of a disruption of the vestibular labyrinth and a wide dehiscence of the vestibule, which was immediately resurfaced. At the 2-month follow-up, the patient's pressure- and sound-related vestibular symptoms had disappeared. Pure-tone audiometry showed a reduction in the air-bone gap with a slight deterioration of bone conduction and an improvement in the air-conduction threshold. Fistulization of the otic capsule produces a "third window," which can lead to a dehiscence syndrome. One possible cause is a cholesteatoma of the middle ear or petrous bone. When the vestibule is invaded by a cholesteatoma, hearing is almost invariably lost, either pre- or postoperatively. However, in our case, wide opening of the vestibule resulted in hearing preservation.

  4. Premature delivery due to intrauterine Candida infection that caused neonatal congenital cutaneous candidiasis: a case report.

    Science.gov (United States)

    Ito, Fumitake; Okubo, Tomoharu; Yasuo, Tadahiro; Mori, Taisuke; Iwasa, Koichi; Iwasaku, Kazuhiro; Kitawaki, Jo

    2013-01-01

    Congenital cutaneous candidiasis is a very rare disease with less than 100 cases published in the medical literature. Neonates having this disease present with systemic skin lesions caused by intrauterine Candida infections. We present a case of threatened premature delivery due to Candida chorioamnionitis, which caused both maternal postpartum endometritis and neonatal congenital cutaneous candidiasis. A 34-year-old woman who was admitted for fetal membrane bulging at 20 weeks of gestation underwent McDonald cervical cerclage. We diagnosed threatened premature delivery due to intrauterine infection; therefore, we terminated the gestation by cesarean section at 24 weeks of gestation. Fungi-like yeast was detected in infantile gastric juice. Histopathological findings of the placenta revealed that Candida albicans mycelium invaded the placenta, chorioamniotic membrane and umbilical cord. © 2012 The Authors. Journal of Obstetrics and Gynaecology Research © 2012 Japan Society of Obstetrics and Gynecology.

  5. Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay.

    Science.gov (United States)

    Ben-Salem, Salma; Gleeson, Joseph G; Al-Shamsi, Aisha M; Islam, Barira; Hertecant, Jozef; Ali, Bassam R; Al-Gazali, Lihadh

    2015-06-01

    Deficiency of Asparagine Synthetase (ASNSD, MIM 615574) is a very rare autosomal recessive disorder presenting with some brain abnormalities. Affected individuals have congenital microcephaly and progressive encephalopathy associated with severe intellectual disability and intractable seizures. The loss of function of the asparagine synthetase (ASNS, EC 6.3.5.4), particularly in the brain, is the major cause of this particular congenital microcephaly. In this study, we clinically evaluated an affected child from a consanguineous Emirati family presenting with congenital microcephaly and epileptic encephalopathy. In addition, whole-exome sequencing revealed a novel homozygous substitution mutation (c.1193A > C) in the ASNS gene. This mutation resulted in the substitution of highly conserved tyrosine residue by cysteine (p.Y398C). Molecular modeling analysis predicts hypomorphic and damaging effects of this mutation on the protein structure and altering its enzymatic activity. Therefore, we conclude that the loss of ASNS function is most likely the cause of this condition in the studied family. This report brings the number of reported families with this very rare disorder to five and the number of pathogenic mutations in the ASNS gene to four. This finding extends the ASNS pathogenic mutations spectrum and highlights the utility of whole-exome sequencing in elucidation the causes of rare recessive disorders that are heterogeneous and/or overlap with other conditions.

  6. Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

    Directory of Open Access Journals (Sweden)

    Huang Lijia

    2012-09-01

    Full Text Available Abstract Background Congenital nonprogressive spinocerebellar ataxia is characterized by early gross motor delay, hypotonia, gait ataxia, mild dysarthria and dysmetria. The clinical presentation remains fairly stable and may be associated with cerebellar atrophy. To date, only a few families with autosomal dominant congenital nonprogressive spinocerebellar ataxia have been reported. Linkage to 3pter was demonstrated in one large Australian family and this locus was designated spinocerebellar ataxia type 29. The objective of this study is to describe an unreported Canadian family with autosomal dominant congenital nonprogressive spinocerebellar ataxia and to identify the underlying genetic causes in this family and the original Australian family. Methods and Results Exome sequencing was performed for the Australian family, resulting in the identification of a heterozygous mutation in the ITPR1 gene. For the Canadian family, genotyping with microsatellite markers and Sanger sequencing of ITPR1 gene were performed; a heterozygous missense mutation in ITPR1 was identified. Conclusions ITPR1 encodes inositol 1,4,5-trisphosphate receptor, type 1, a ligand-gated ion channel that mediates calcium release from the endoplasmic reticulum. Deletions of ITPR1 are known to cause spinocerebellar ataxia type 15, a distinct and very slowly progressive form of cerebellar ataxia with onset in adulthood. Our study demonstrates for the first time that, in addition to spinocerebellar ataxia type 15, alteration of ITPR1 function can cause a distinct congenital nonprogressive ataxia; highlighting important clinical heterogeneity associated with the ITPR1 gene and a significant role of the ITPR1-related pathway in the development and maintenance of the normal functions of the cerebellum.

  7. Congenital cytomegalovirus infection: Clinical presentation, epidemiology, diagnosis and prevention.

    Science.gov (United States)

    van Zuylen, Wendy J; Hamilton, Stuart T; Naing, Zin; Hall, Beverly; Shand, Antonia; Rawlinson, William D

    2014-12-01

    Cytomegalovirus is the most common congenital infection causing serious disease in infants. It is the leading infectious cause of sensorineural hearing loss and neurodevelopmental disability in developed countries. Despite the clinical importance of congenital cytomegalovirus, surveys show there is limited awareness and knowledge in the medical and general community about congenital cytomegalovirus infection. This article reviews the clinical features, global epidemiology, transmission and risk factors for cytomegalovirus infections. It also highlights several major advances made in recent years in the diagnosis and prevention of cytomegalovirus infection during pregnancy. Although research is ongoing, no therapy is currently proven to prevent or treat maternal, fetal or neonatal cytomegalovirus infection. Education of women regarding hygiene measures can help prevent cytomegalovirus infection and are currently the best strategy to prevent congenital cytomegalovirus disease.

  8. Congenital cytomegalovirus infection: Clinical presentation, epidemiology, diagnosis and prevention

    Science.gov (United States)

    van Zuylen, Wendy J; Hamilton, Stuart T; Naing, Zin; Hall, Beverly; Shand, Antonia

    2014-01-01

    Cytomegalovirus is the most common congenital infection causing serious disease in infants. It is the leading infectious cause of sensorineural hearing loss and neurodevelopmental disability in developed countries. Despite the clinical importance of congenital cytomegalovirus, surveys show there is limited awareness and knowledge in the medical and general community about congenital cytomegalovirus infection. This article reviews the clinical features, global epidemiology, transmission and risk factors for cytomegalovirus infections. It also highlights several major advances made in recent years in the diagnosis and prevention of cytomegalovirus infection during pregnancy. Although research is ongoing, no therapy is currently proven to prevent or treat maternal, fetal or neonatal cytomegalovirus infection. Education of women regarding hygiene measures can help prevent cytomegalovirus infection and are currently the best strategy to prevent congenital cytomegalovirus disease. PMID:27512442

  9. Family-based studies to identify genetic variants that cause congenital heart defects.

    Science.gov (United States)

    Arrington, Cammon B; Bleyl, Steven B; Brunelli, Luca; Bowles, Neil E

    2013-07-01

    Congenital heart defects (CHDs) are the most common congenital abnormalities. Analysis of large multigenerational families has led to the identification of a number of genes for CHDs. However, identifiable variations in these genes are the cause of a small proportion of cases of CHDs, suggesting significant genetic heterogeneity. In addition, large families with CHDs are rare, making the identification of additional genes difficult. Next-generation sequencing technologies will provide an opportunity to identify more genes in the future. However, the significant genetic variation between individuals will present a challenge to distinguish between 'pathogenic' and 'benign' variants. We have demonstrated that the analysis of multiple individuals in small families using combinations of algorithms can reduce the number of candidate variants to a small, manageable number. Thus, the analysis of small nuclear families or even distantly related 'sporadic' cases may begin to uncover the 'dark matter' of CHD genetics.

  10. Characteristics of Dysphagia in Infants with Microcephaly Caused by Congenital Zika Virus Infection, Brazil, 2015

    Science.gov (United States)

    van der Linden, Vanessa; Bezerra, Thiago P.; de Valois, Luciana; Borges, Adriana C.G.; Antunes, Margarida M.C.; Brandt, Kátia G.; Moura, Catharina X.; Rodrigues, Laura C.; Ximenes, Coeli R.

    2017-01-01

    We summarize the characteristics of dysphagia in 9 infants in Brazil with microcephaly caused by congenital Zika virus infection. The Schedule for Oral Motor Assessment, fiberoptic endoscopic evaluation of swallowing, and the videofluoroscopic swallowing study were used as noninstrumental and instrumental assessments. All infants had a degree of neurologic damage and showed abnormalities in the oral phase. Of the 9 infants, 8 lacked oral and upper respiratory tract sensitivity, leading to delays in initiation of the pharyngeal phase of swallowing. Those delays, combined with marked oral dysfunction, increased the risk for aspiration of food, particularly liquid foods. Dysphagia resulting from congenital Zika virus syndrome microcephaly can develop in infants >3 months of age and is severe. PMID:28604336

  11. Sensorineural hearing loss in children.

    LENUS (Irish Health Repository)

    Wormald, R

    2010-02-01

    The objective of the study was to examine the aetiology of sensorineural hearing loss (SNHL) in a paediatric population presenting to the National Centre of Medical Genetics. A retrospective chart review from 1998 to 2006. One hundred and twenty nine children were investigated for SNHL. The average age of diagnosis of hearing loss was 36 months. The degree of hearing loss was mild in 8 children, moderate in 33 children, severe in 31 children and profound in 57 children. Eighty-five children (66%) were diagnosed with a hereditary hearing loss, 11 (8%) children had an acquired hearing loss and no cause found in 33 (26%) children. This is the first report of the causes of hearing loss in Irish children. The mean age of diagnosis in our cohort is high and emphasises the need for a neonatal screening programme. There remains a number of children for whom the cause of hearing loss remains unknown.

  12. Obstructed labour caused by rare congenital anomaly of foetus: managed by foetal abdominal tapping leading to successful vaginal delivery

    OpenAIRE

    Neelam Swaroop; Priya Sharma; Kalpana Kumari; Shikha Seth

    2015-01-01

    Obstructed labour with high maternal morbidity and mortality is still prevalent in the developing world. The common causes of obstructed labour include contracted pelvis, uterine abnormalities, maternal pelvic tumours, foetal malpresentation, and congenital foetal abnormalities like hydrocephalus, polycystic kidneys/hydronephrosis or locked twins. Here we present a case of rare congenital anomaly of foetus, Prune belly syndrome causing obstructed labour in its course and managed by foetal abd...

  13. A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis.

    Science.gov (United States)

    Mitsuhashi, Satomi; Ohkuma, Aya; Talim, Beril; Karahashi, Minako; Koumura, Tomoko; Aoyama, Chieko; Kurihara, Mana; Quinlivan, Ros; Sewry, Caroline; Mitsuhashi, Hiroaki; Goto, Kanako; Koksal, Burcu; Kale, Gulsev; Ikeda, Kazutaka; Taguchi, Ryo; Noguchi, Satoru; Hayashi, Yukiko K; Nonaka, Ikuya; Sher, Roger B; Sugimoto, Hiroyuki; Nakagawa, Yasuhito; Cox, Gregory A; Topaloglu, Haluk; Nishino, Ichizo

    2011-06-10

    Congenital muscular dystrophy is a heterogeneous group of inherited muscle diseases characterized clinically by muscle weakness and hypotonia in early infancy. A number of genes harboring causative mutations have been identified, but several cases of congenital muscular dystrophy remain molecularly unresolved. We examined 15 individuals with a congenital muscular dystrophy characterized by early-onset muscle wasting, mental retardation, and peculiar enlarged mitochondria that are prevalent toward the periphery of the fibers but are sparse in the center on muscle biopsy, and we have identified homozygous or compound heterozygous mutations in the gene encoding choline kinase beta (CHKB). This is the first enzymatic step in a biosynthetic pathway for phosphatidylcholine, the most abundant phospholipid in eukaryotes. In muscle of three affected individuals with nonsense mutations, choline kinase activities were undetectable, and phosphatidylcholine levels were decreased. We identified the human disease caused by disruption of a phospholipid de novo biosynthetic pathway, demonstrating the pivotal role of phosphatidylcholine in muscle and brain. Copyright © 2011 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  14. A new nonsyndromic X-linked sensorineural hearing impairment linked to Xp21.2

    Energy Technology Data Exchange (ETDEWEB)

    Lalwani, A.K.; Brister, J.R.; Fex, J.; Grundfast, K.M.; Pikus, A.T.; Ploplis, B.; San Agustin, T.; Skarka, H.; Wilcox, E.R. [National Institutes of Health, Bethesda, MD (United States)

    1994-10-01

    X-linked deafness is a rare cause of hereditary hearing impairment. We have identified a family with X-linked dominant sensorineural hearing impairment, characterized by incomplete penetrance and variable expressivity in carrier females, that is linked to the Xp21.2, which contains the Duchenne muscular dystrophy (DMD) locus. The auditory impairment in affected males was congenital, bilateral, profound, sensorineural, affecting all frequencies, and without evidence of radiographic abnormality of the temporal bone. Adult carrier females manifested bilateral, mild-to-moderate high-frequency sensorineural hearing impairment of delayed onset during adulthood. Eighteen commercially available polymorphic markers from the X chromosome, generating a 10-15-cM map, were initially used for identification of a candidate region. DXS997, located within the DMD gene, generated a two-point LOD score of 2.91 at {theta} = 0, with every carrier mother heterozygous at this locus. Recombination events at DXS992 (located within the DMD locus, 3{prime} to exon 50 of the dystrophin gene) and at DXS1068 (5{prime} to the brain promoter of the dystrophin gene) were observed. No recombination events were noted with the following markers within the DMD locus: 5{prime}DYS II, intron 44, DXS997, and intron 50. There was no clinical evidence of Duchenne or Becker muscular dystrophy in any family member. It is likely that this family represents a new locus on the X chromosome, which when mutated results in nonsyndromic sensorineural hearing loss and is distinct from the heterogeneous group of X-linked hearing losses that have been previously described. 57 refs., 6 figs., 1 tab.

  15. Mutations in the CEP290 (NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis

    Science.gov (United States)

    den Hollander, Anneke I.; Koenekoop, Robert K.; Yzer, Suzanne; Lopez, Irma; Arends, Maarten L.; Voesenek, Krysta E. J.; Zonneveld, Marijke N.; Strom, Tim M.; Meitinger, Thomas; Brunner, Han G.; Hoyng, Carel B.; van den Born, L. Ingeborgh; Rohrschneider, Klaus; Cremers, Frans P. M.

    2006-01-01

    Leber congenital amaurosis (LCA) is one of the main causes of childhood blindness. To date, mutations in eight genes have been described, which together account for ∼45% of LCA cases. We localized the genetic defect in a consanguineous LCA-affected family from Quebec and identified a splice defect in a gene encoding a centrosomal protein (CEP290). The defect is caused by an intronic mutation (c.2991+1655A→G) that creates a strong splice-donor site and inserts a cryptic exon in the CEP290 messenger RNA. This mutation was detected in 16 (21%) of 76 unrelated patients with LCA, either homozygously or in combination with a second deleterious mutation on the other allele. CEP290 mutations therefore represent one of the most frequent causes of LCA identified so far. PMID:16909394

  16. Bilateral sudden sensorineural hearing loss as a first symptom of infective endocarditis: two case reports.

    Science.gov (United States)

    Chroni, M; Prappa, E; Kokkevi, I

    2018-02-21

    Septic emboli are an unusual cause of sudden sensorineural hearing loss, for which few reports exist in the literature. This paper presents two cases of sudden sensorineural hearing loss, initially considered as idiopathic, but which were caused by septic emboli. Hearing loss in these cases was bilateral, sequential and total. The first patient had mild fever one week prior to their presentation with sudden sensorineural hearing loss; the other patient had no additional symptoms at presentation. These patients were later diagnosed with infective endocarditis, at two and seven months following the sudden sensorineural hearing loss respectively, showing that septic emboli had been the cause of sudden sensorineural hearing loss. Septic emboli should be considered as a possible cause of sudden sensorineural hearing loss in cases of total hearing loss. This form of hearing loss should prompt the otolaryngologist to further investigate for infective endocarditis.

  17. Mondini dysplasia and congenital cytomegalovirus infection.

    Science.gov (United States)

    Bauman, N M; Kirby-Keyser, L J; Dolan, K D; Wexler, D; Gantz, B J; McCabe, B F; Bale, J F

    1994-01-01

    We report a case of bilateral temporal bone anomalies in a child with symptomatic congenital cytomegalovirus infection and severe, bilateral sensorineural hearing loss identified at 3 months of age. High-resolution temporal bone computed tomography (HRCT) revealed bilateral findings of a short, malformed cochlea lacking an interscalar septum, a short and wide internal auditory canal, and an enlarged vestibular aqueduct, features diagnostic of bilateral Mondini dysplasia. To determine the importance of this observation, we completed HRCT in five additional children between 7 months and 9 years of age who had evidence of symptomatic congenital cytomegalovirus infection. One child with profound sensorineural hearing loss had severe bilateral temporal bone dysplasia with a small cochlea lacking an interscalar septum, an abnormal vestibule, and a large cochlear aqueduct. Of the remaining four children, hearing thresholds ranged from normal to profoundly decreased, but their HRCT scans were normal to visual inspection. When inner ear dimensions of these temporal bones were compared with norms established by Pappas and coworkers, however, seven of the eight ears had short cochleas and narrow lateral semicircular canals, and three ears had short or narrow vestibules. These results indicate that congenital cytomegalovirus infection may cause anomalies or growth disturbances of the temporal bone.

  18. Giant Congenital Pelvic AVM Causing Cardiac Failure, Diplegia, and Neurogenic Bladder.

    Science.gov (United States)

    Bekci, Tumay; Yucel, Serap; Turgut, Eser; Soylu, Aysegul Idil

    2015-01-01

    Pelvic arteriovenous malformations (AVMs) are uncommon lesions and only a rare number of male cases have been reported. Their clinical presentations are variable and imaging modalities have an important place in diagnosis and treatment planning. We present the imaging findings of a giant congenital pelvic AVM that was diagnosed in a 30-year-old male patient eight years ago and which progressed despite follow-up and treatment, causing cardiac failure, diplegia, and neurogenic bladder. Pelvic AVMs are uncommon lesions and they can present with various symptoms based on their locations and sizes. Delays in the diagnosis and treatment can cause local and systemic complications. Imaging is very important in the diagnosis of pelvic AVM.

  19. Congenital stapes malformation: Rare conductive hearing loss in a patient with Waardenburg syndrome.

    Science.gov (United States)

    Melzer, Jonathan M; Eliason, Michael; Conley, George S

    2016-04-01

    Waardenburg syndrome is a known autosomal dominant cause of congenital hearing loss. It is characterized by a distinctive phenotypic appearance and often involves sensorineural hearing loss. Temporal bone abnormalities and inner ear dysmorphisms have been described in association with the disease. However, middle ear abnormalities as causes of conductive hearing loss are not typically seen in Waardenburg syndrome. We discuss a case of an 8-year-old female who meets diagnostic criteria for Waardenburg syndrome type 3 and who presented with a bilateral conductive hearing loss associated with congenital stapes fixation. We discuss management strategy in this previously unreported phenotype. © 2015 The American Laryngological, Rhinological and Otological Society, Inc.

  20. A novel heterozygous SOX2 mutation causing congenital bilateral anophthalmia, hypogonadotropic hypogonadism and growth hormone deficiency.

    Science.gov (United States)

    Macchiaroli, Annamaria; Kelberman, Daniel; Auriemma, Renata Simona; Drury, Suzanne; Islam, Lily; Giangiobbe, Sara; Ironi, Gabriele; Lench, Nicholas; Sowden, Jane C; Colao, Annamaria; Pivonello, Rosario; Cavallo, Luciano; Gasperi, Maurizio; Faienza, Maria Felicia

    2014-01-25

    Heterozygous de novo mutations in SOX2 have been reported in approximately 10-20% of patients with unilateral or bilateral anophthalmia or microphthalmia. An additional phenotype of hypopituitarism, with anterior pituitary hypoplasia and hypogonadotropic hypogonadism, has been reported in patients carrying SOX2 alterations. We report a novel heterozygous mutation in the SOX2 gene in a male affected with congenital bilateral anophthalmia, hypogonadotrophic hypogonadism and growth hormone deficiency. The mutation we describe is a cytosine deletion in position 905 (c905delC) which causes frameshift and an aberrant C-terminal domain. Our report highlights the fact that subjects affected with eye anomalies and harboring SOX2 mutations are at high risk for gonadotropin deficiency, which has important implications for their clinical management. Copyright © 2013 Elsevier B.V. All rights reserved.

  1. Congenital nasal pyriform aperture stenosis: a rare cause of neonatal nasal airway obstruction

    Directory of Open Access Journals (Sweden)

    A Rao

    2015-04-01

    Full Text Available Congenital nasal pyriform aperture stenosis (CNPAS is a rare cause of nasal airway obstruction that clinically mimics choanal atresia in a neonate. The differentiation between the two is very important as the management of the two conditions is different. Timely recognition is important to prevent fatal outcome. CNPAS may present as an isolated condition or with associated craniofacial anomalies. Despite typical findings of CNPAS being present on cross-sectional imaging, this condition is commonly overlooked, probably because of a lack of familiarity with the normal morphological features of the nasal cavity in infants and also owing to a lack of awareness of this rare entity. Here we report a case of CNPAS with pre- and post-surgical CT images and the complication that occurred owing to nasal stenting.

  2. A Congenital Muscular Dystrophy with Mitochondrial Structural Abnormalities Caused by Defective De Novo Phosphatidylcholine Biosynthesis

    OpenAIRE

    Mitsuhashi, Satomi; Ohkuma, Aya; Talim, Beril; Karahashi, Minako; Koumura, Tomoko; Aoyama, Chieko; Kurihara, Mana; Quinlivan, Ros; Sewry, Caroline; Mitsuhashi, Hiroaki; Goto, Kanako; Koksal, Burcu; Kale, Gulsev; Ikeda, Kazutaka; Taguchi, Ryo

    2011-01-01

    Congenital muscular dystrophy is a heterogeneous group of inherited muscle diseases characterized clinically by muscle weakness and hypotonia in early infancy. A number of genes harboring causative mutations have been identified, but several cases of congenital muscular dystrophy remain molecularly unresolved. We examined 15 individuals with a congenital muscular dystrophy characterized by early-onset muscle wasting, mental retardation, and peculiar enlarged mitochondria that are prevalent to...

  3. A Novel Homozygous Mutation in FOXC1 Causes Axenfeld Rieger Syndrome with Congenital Glaucoma.

    Directory of Open Access Journals (Sweden)

    Shazia Micheal

    Full Text Available Anterior segment dysgenesis (ASD disorders are a group of clinically and genetically heterogeneous phenotypes in which frequently cornea, iris, and lens are affected. This study aimed to identify novel mutations in PAX6, PITX2 and FOXC1 in families with anterior segment dysgenesis disorders.We studied 14 Pakistani and one Mexican family with Axenfeld Rieger syndrome (ARS; n = 10 or aniridia (n = 5. All affected and unaffected family members underwent full ophthalmologic and general examinations. Total genomic DNA was isolated from peripheral blood. PCR and Sanger sequencing were performed for the exons and intron-exon boundaries of the FOXC1, PAX6, and PITX2 genes.Mutations were identified in five of the 15 probands; four variants were novel and one variant was described previously. A novel de novo variant (c.225C>A; p.Tyr75* was identified in the PAX6 gene in two unrelated probands with aniridia. In addition, a known variant (c.649C>T; p.Arg217* in PAX6 segregated in a family with aniridia. In the FOXC1 gene, a novel heterozygous variant (c.454T>C; p.Trp152Arg segregated with the disease in a Mexican family with ARS. A novel homozygous variant (c.92_100del; p.Ala31_Ala33del in the FOXC1 gene segregated in a Pakistani family with ARS and congenital glaucoma.Our study expands the mutation spectrum of the PAX6 and FOXC1 genes in individuals with anterior segment dysgenesis disorders. In addition, our study suggests that FOXC1 mutations, besides typical autosomal dominant ARS, can also cause ARS with congenital glaucoma through an autosomal recessive inheritance pattern. Our results thus expand the disease spectrum of FOXC1, and may lead to a better understanding of the role of FOXC1 in development.

  4. Sensorineural Deafness, Distinctive Facial Features and Abnormal Cranial Bones

    Science.gov (United States)

    Gad, Alona; Laurino, Mercy; Maravilla, Kenneth R.; Matsushita, Mark; Raskind, Wendy H.

    2008-01-01

    The Waardenburg syndromes (WS) account for approximately 2% of congenital sensorineural deafness. This heterogeneous group of diseases currently can be categorized into four major subtypes (WS types 1-4) on the basis of characteristic clinical features. Multiple genes have been implicated in WS, and mutations in some genes can cause more than one WS subtype. In addition to eye, hair and skin pigmentary abnormalities, dystopia canthorum and broad nasal bridge are seen in WS type 1. Mutations in the PAX3 gene are responsible for the condition in the majority of these patients. In addition, mutations in PAX3 have been found in WS type 3 that is distinguished by musculoskeletal abnormalities, and in a family with a rare subtype of WS, craniofacial-deafness-hand syndrome (CDHS), characterized by dysmorphic facial features, hand abnormalities, and absent or hypoplastic nasal and wrist bones. Here we describe a woman who shares some, but not all features of WS type 3 and CDHS, and who also has abnormal cranial bones. All sinuses were hypoplastic, and the cochlea were small. No sequence alteration in PAX3 was found. These observations broaden the clinical range of WS and suggest there may be genetic heterogeneity even within the CDHS subtype. PMID:18553554

  5. Antisense Oligonucleotide (AON)-based Therapy for Leber Congenital Amaurosis Caused by a Frequent Mutation in CEP290

    NARCIS (Netherlands)

    Collin, R.W.J.; Hollander, A.I. den; Velde-Visser, S.D. van der; Bennicelli, J.; Bennett, J.; Cremers, F.P.M.

    2012-01-01

    Leber congenital amaurosis (LCA) is the most severe form of inherited retinal degeneration, with an onset in the first year of life. The most frequent mutation that causes LCA, present in at least 10% of individuals with LCA from North-American and Northern-European descent, is an intronic mutation

  6. Ehlers-Danlos Syndrome Caused by Biallelic TNXB Variants in Patients with Congenital Adrenal Hyperplasia.

    Science.gov (United States)

    Chen, Wuyan; Perritt, Ashley F; Morissette, Rachel; Dreiling, Jennifer L; Bohn, Markus-Frederik; Mallappa, Ashwini; Xu, Zhi; Quezado, Martha; Merke, Deborah P

    2016-09-01

    Some variants that cause autosomal-recessive congenital adrenal hyperplasia (CAH) also cause hypermobility type Ehlers-Danlos syndrome (EDS) due to the monoallelic presence of a chimera disrupting two flanking genes: CYP21A2, encoding 21-hydroxylase, necessary for cortisol and aldosterone biosynthesis, and TNXB, encoding tenascin-X, an extracellular matrix protein. Two types of CAH tenascin-X (CAH-X) chimeras have been described with a total deletion of CYP21A2 and characteristic TNXB variants. CAH-X CH-1 has a TNXB exon 35 120-bp deletion resulting in haploinsufficiency, and CAH-X CH-2 has a TNXB exon 40 c.12174C>G (p.Cys4058Trp) variant resulting in a dominant-negative effect. We present here three patients with biallelic CAH-X and identify a novel dominant-negative chimera termed CAH-X CH-3. Compared with monoallelic CAH-X, biallelic CAH-X results in a more severe phenotype with skin features characteristic of classical EDS. We present evidence for disrupted tenascin-X function and computational data linking the type of TNXB variant to disease severity. © 2016 WILEY PERIODICALS, INC.

  7. One Base Deletion (c.2422delT) in the TPO Gene Causes Severe Congenital Hypothyroidism.

    Science.gov (United States)

    Cangül, Hakan; Doğan, Murat; Sağlam, Yaman; Kendall, Michaela; Boelaert, Kristien; Barrett, Timothy G; Maher, Eamonn R

    2014-09-01

    Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder and mutations in the TPO gene have been reported to cause CH. Our aim in this study was to determine the genetic basis of CH in two affected individuals coming from a consanguineous family. Since CH is usually inherited in autosomal recessive manner in consanguineous/multi-case families, we adopted a two-stage strategy of genetic linkage studies and targeted sequencing of the candidate genes. First, we investigated the potential genetic linkage of the family to any known CH locus using microsatellite markers and then screened for mutations in linked-gene by Sanger sequencing. The family showed potential linkage to the TPO gene and we detected a deletion (c.2422delT) in both cases. The mutation segregated with disease status in the family. This study demonstrates that a single base deletion in the carboxyl-terminal coding region of the TPO gene could cause CH and helps to establish a genotype/phenotype correlation associated with the mutation. The study also highlights the importance of molecular genetic studies in the definitive diagnosis and accurate classification of CH.

  8. GJB2 sequencing in deaf and profound sensorineural hearing loss children.

    Science.gov (United States)

    Mielczarek, Marzena; Zakrzewska, Anna; Olszewski, Jurek

    2016-06-30

    GJB2 mutations are the most frequent reason of genetic congenital hearing loss. The aim of the study was to assess the prevalence of GJB2 mutations in the deaf and profound hearing loss children. The material of the study was a group of 61 patients divided into two groups. Group I - 35 deaf or with profound sensorineural hearing loss children (the pupils of the deaf and hard of hearing school), aged 5-17 years (average 9.2 years), 14 males, 21 females, II - control group comprised 26 normal hearing patients, aged 5-16 years (average 10.4years), 14 males, 12 females (patients of Department of Pediatric Otolaryngology, Audiology and Phoniatrics, Medical University of Lodz). In both groups, exon 2 sequencing of GJB2 gene was performed. In group I in 6 patients (17%) 35delG in GJB2 gene was found. The patients were homozygotes, with negative family history of hearing loss. No other mutations in GJB2 gene were found. In group II no mutations in GJB2 were observed. The most frequent cause of hearing impairment in the deaf and profound sensorineural hearing loss children was 35delG mutation in GJB2 gene. No other mutations in GJB2 gene were detected.

  9. Hearing Disorders and Sensorineural Aging

    Directory of Open Access Journals (Sweden)

    Alessandra Fioretti

    2014-01-01

    Full Text Available The physiological age-related hearing loss is defined as presbycusis and it is characterized by reduced hearing sensitivity and problems in understanding spoken language especially in a noisy environment. In elderly the reduced speech recognition is generally caused by a reduction of the cochlear cells in the organ of Corti and degeneration of the central auditory pathways. In order to have a complete management strategy of central and peripheral presbycusis the diagnostic evaluation should include clinical ENT examination, standard audiological tests, and tests of central auditory function. Treatment should include not only the appropriate instruments for peripheral compensation but also auditory rehabilitative training and counseling to prevent social isolation and loss of autonomy. Other common hearing disorders in elderly are tinnitus and hyperacusis which are often undervalued. Tinnitus is characterized by the perception of a “phantom” sound due to abnormal auditory perception. Hyperacusis is defined as a reduced tolerance to ordinary environmental sounds. Furthermore auditory, visual, nociceptive, and proprioceptive systems may be involved together in a possible context of “sensorineural aging.” The aim of this review is to underline the presence of hearing disorders like tinnitus and hyperacusis which in many cases coexist with hearing loss in elderly.

  10. Submicroscopic Deletions at 13q32.1 Cause Congenital Microcoria

    Science.gov (United States)

    Fares-Taie, Lucas; Gerber, Sylvie; Tawara, Akihiko; Ramirez-Miranda, Arturo; Douet, Jean-Yves; Verdin, Hannah; Guilloux, Antoine; Zenteno, Juan C.; Kondo, Hiroyuki; Moisset, Hugo; Passet, Bruno; Yamamoto, Ken; Iwai, Masaru; Tanaka, Toshihiro; Nakamura, Yusuke; Kimura, Wataru; Bole-Feysot, Christine; Vilotte, Marthe; Odent, Sylvie; Vilotte, Jean-Luc; Munnich, Arnold; Regnier, Alain; Chassaing, Nicolas; De Baere, Elfride; Raymond-Letron, Isabelle; Kaplan, Josseline; Calvas, Patrick; Roche, Olivier; Rozet, Jean-Michel

    2015-01-01

    Congenital microcoria (MCOR) is a rare autosomal-dominant disorder characterized by inability of the iris to dilate owing to absence of dilator pupillae muscle. So far, a dozen MCOR-affected families have been reported worldwide. By using whole-genome oligonucleotide array CGH, we have identified deletions at 13q32.1 segregating with MCOR in six families originating from France, Japan, and Mexico. Breakpoint sequence analyses showed nonrecurrent deletions in 5/6 families. The deletions varied from 35 kbp to 80 kbp in size, but invariably encompassed or interrupted only two genes: TGDS encoding the TDP-glucose 4,6-dehydratase and GPR180 encoding the G protein-coupled receptor 180, also known as intimal thickness-related receptor (ITR). Unlike TGDS which has no known function in muscle cells, GPR180 is involved in the regulation of smooth muscle cell growth. The identification of a null GPR180 mutation segregating over two generations with iridocorneal angle dysgenesis, which can be regarded as a MCOR endophenotype, is consistent with the view that deletions of this gene, with or without the loss of elements regulating the expression of neighboring genes, are the cause of MCOR. PMID:25772937

  11. Homozygous Mutations in PXDN Cause Congenital Cataract, Corneal Opacity, and Developmental Glaucoma

    Science.gov (United States)

    Khan, Kamron; Rudkin, Adam; Parry, David A.; Burdon, Kathryn P.; McKibbin, Martin; Logan, Clare V.; Abdelhamed, Zakia I.A.; Muecke, James S.; Fernandez-Fuentes, Narcis; Laurie, Kate J.; Shires, Mike; Fogarty, Rhys; Carr, Ian M.; Poulter, James A.; Morgan, Joanne E.; Mohamed, Moin D.; Jafri, Hussain; Raashid, Yasmin; Meng, Ngy; Piseth, Horm; Toomes, Carmel; Casson, Robert J.; Taylor, Graham R.; Hammerton, Michael; Sheridan, Eamonn; Johnson, Colin A.; Inglehearn, Chris F.; Craig, Jamie E.; Ali, Manir

    2011-01-01

    Anterior segment dysgenesis describes a group of heterogeneous developmental disorders that affect the anterior chamber of the eye and are associated with an increased risk of glaucoma. Here, we report homozygous mutations in peroxidasin (PXDN) in two consanguineous Pakistani families with congenital cataract-microcornea with mild to moderate corneal opacity and in a consanguineous Cambodian family with developmental glaucoma and severe corneal opacification. These results highlight the diverse ocular phenotypes caused by PXDN mutations, which are likely due to differences in genetic background and environmental factors. Peroxidasin is an extracellular matrix-associated protein with peroxidase catalytic activity, and we confirmed localization of the protein to the cornea and lens epithelial layers. Our findings imply that peroxidasin is essential for normal development of the anterior chamber of the eye, where it may have a structural role in supporting cornea and lens architecture as well as an enzymatic role as an antioxidant enzyme in protecting the lens, trabecular meshwork, and cornea against oxidative damage. PMID:21907015

  12. Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans.

    Science.gov (United States)

    Heinz, Lisa; Kim, Gwang-Jin; Marrakchi, Slaheddine; Christiansen, Julie; Turki, Hamida; Rauschendorf, Marc-Alexander; Lathrop, Mark; Hausser, Ingrid; Zimmer, Andreas D; Fischer, Judith

    2017-06-01

    Ichthyoses are a clinically and genetically heterogeneous group of genodermatoses associated with abnormal scaling of the skin over the whole body. Mutations in nine genes are known to cause non-syndromic forms of autosomal-recessive congenital ichthyosis (ARCI). However, not all genetic causes for ARCI have been discovered to date. Using whole-exome sequencing (WES) and multigene panel screening, we identified 6 ARCI-affected individuals from three unrelated families with mutations in Sulfotransferase family 2B member 1 (SULT2B1), showing their causative association with ARCI. Cytosolic sulfotransferases form a large family of enzymes that are involved in the synthesis and metabolism of several steroids in humans. We identified four distinct mutations including missense, nonsense, and splice site mutations. We demonstrated the loss of SULT2B1 expression at RNA and protein levels in keratinocytes from individuals with ARCI by functional analyses. Furthermore, we succeeded in reconstructing the morphologic skin alterations in a 3D organotypic tissue culture model with SULT2B1-deficient keratinocytes and fibroblasts. By thin layer chromatography (TLC) of extracts from these organotypic cultures, we could show the absence of cholesterol sulfate, the metabolite of SULT2B1, and an increased level of cholesterol, indicating a disturbed cholesterol metabolism of the skin upon loss-of-function mutation in SULT2B1. In conclusion, our study reveals an essential role for SULT2B1 in the proper development of healthy human skin. Mutation in SULT2B1 leads to an ARCI phenotype via increased proliferation of human keratinocytes, thickening of epithelial layers, and altered epidermal cholesterol metabolism. Copyright © 2017 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  13. A Mutation in LTBP2 Causes Congenital Glaucoma in Domestic Cats (Felis catus).

    Science.gov (United States)

    Kuehn, Markus H; Lipsett, Koren A; Menotti-Raymond, Marilyn; Whitmore, S Scott; Scheetz, Todd E; David, Victor A; O'Brien, Stephen J; Zhao, Zhongyuan; Jens, Jackie K; Snella, Elizabeth M; Ellinwood, N Matthew; McLellan, Gillian J

    2016-01-01

    The glaucomas are a group of diseases characterized by optic nerve damage that together represent a leading cause of blindness in the human population and in domestic animals. Here we report a mutation in LTBP2 that causes primary congenital glaucoma (PCG) in domestic cats. We identified a spontaneous form of PCG in cats and established a breeding colony segregating for PCG consistent with fully penetrant, autosomal recessive inheritance of the trait. Elevated intraocular pressure, globe enlargement and elongated ciliary processes were consistently observed in all affected cats by 8 weeks of age. Varying degrees of optic nerve damage resulted by 6 months of age. Although subtle lens zonular instability was a common feature in this cohort, pronounced ectopia lentis was identified in less than 10% of cats examined. Thus, glaucoma in this pedigree is attributed to histologically confirmed arrest in the early post-natal development of the aqueous humor outflow pathways in the anterior segment of the eyes of affected animals. Using a candidate gene approach, significant linkage was established on cat chromosome B3 (LOD 18.38, θ = 0.00) using tightly linked short tandem repeat (STR) loci to the candidate gene, LTBP2. A 4 base-pair insertion was identified in exon 8 of LTBP2 in affected individuals that generates a frame shift that completely alters the downstream open reading frame and eliminates functional domains. Thus, we describe the first spontaneous and highly penetrant non-rodent model of PCG identifying a valuable animal model for primary glaucoma that closely resembles the human disease, providing valuable insights into mechanisms underlying the disease and a valuable animal model for testing therapies.

  14. A Mutation in LTBP2 Causes Congenital Glaucoma in Domestic Cats (Felis catus.

    Directory of Open Access Journals (Sweden)

    Markus H Kuehn

    Full Text Available The glaucomas are a group of diseases characterized by optic nerve damage that together represent a leading cause of blindness in the human population and in domestic animals. Here we report a mutation in LTBP2 that causes primary congenital glaucoma (PCG in domestic cats. We identified a spontaneous form of PCG in cats and established a breeding colony segregating for PCG consistent with fully penetrant, autosomal recessive inheritance of the trait. Elevated intraocular pressure, globe enlargement and elongated ciliary processes were consistently observed in all affected cats by 8 weeks of age. Varying degrees of optic nerve damage resulted by 6 months of age. Although subtle lens zonular instability was a common feature in this cohort, pronounced ectopia lentis was identified in less than 10% of cats examined. Thus, glaucoma in this pedigree is attributed to histologically confirmed arrest in the early post-natal development of the aqueous humor outflow pathways in the anterior segment of the eyes of affected animals. Using a candidate gene approach, significant linkage was established on cat chromosome B3 (LOD 18.38, θ = 0.00 using tightly linked short tandem repeat (STR loci to the candidate gene, LTBP2. A 4 base-pair insertion was identified in exon 8 of LTBP2 in affected individuals that generates a frame shift that completely alters the downstream open reading frame and eliminates functional domains. Thus, we describe the first spontaneous and highly penetrant non-rodent model of PCG identifying a valuable animal model for primary glaucoma that closely resembles the human disease, providing valuable insights into mechanisms underlying the disease and a valuable animal model for testing therapies.

  15. Progressive Hearing Impairment in Children with Congenital Cytomegalovirus Infection.

    Science.gov (United States)

    Dahle, Arthur J.; And Others

    1979-01-01

    Audiological assessment of 86 children (mean age 38 months at last evaluation time) with congenital cytomegalovirus infection revealed progressive hearing loss in four of 12 Ss with sensorineural hearing impairments. Case descriptions documented the progression of the hearing loss. (Author)

  16. Pediatric Sudden Sensorineural Hearing Loss.

    Science.gov (United States)

    Kizilay, Ahmet; Koca, Çiğdem Firat

    2016-06-01

    Sudden sensorineural hearing loss is defined as sudden unilateral or bilateral sensorineural hearing loss with at least 30 dB decrease in threshold in 3 contiguous test frequencies occurring over 72 hours or less. It is rare among children. The mechanism of the process and prognosis of the disorder remains unclear. The current incidence of sudden sensorineural hearing loss among pediatric population is unknown. The authors carried out a retrospective chart analysis of patients under 15 years of age from 2004 to 2015, who consulted to the Otolaryngology Head and Neck Surgery Department of Inonu University Medical Faculty. Age, sex, number of affected ear and side, audiometric evaluations, medical follow-up, treatment method, duration of treatment recovery, associated complaints; tinnitus and/or vertigo, presence of mumps disease were recorded for each patient. A 4-frequency pure-tone average (500, 1000, 2000, and 4000 Hz) was calculated for each ear. Complete recovery, defined as some hearing level compared with the nonaffected ear, was observed in 3 patients (21.4 %) and there was no partial hearing recovery. The hearing loss of 11 patient remained unchanged after prednisolone treatment. Two of the 11 patients had bilaterally total sensorineural hearing loss and evaluated as appropriate for cochlear implantation. Sex of patient and laterality of hearing loss were not correlated with hearing recovery. Sensorineural hearing loss among pediatrics has been the issue of otolaryngologists. The incidence, etiology, and treatment methods should be more studied.

  17. Mobile phone induced sensorineural hearing loss

    International Nuclear Information System (INIS)

    Al-Dousary, Surayie H.

    2007-01-01

    The increased use of mobile phones worldwide has focused interest on the biological effects and possible health outcomes of exposure to radiofrequency fields from mobile phones, and their base stations. Various reports suggest that mobile phone use can cause health problems like fatigue, headache, dizziness, tension and sleep disturbances, however, only limited research data is available in medical literature regarding interaction between electromagnetic fields emitted by mobile phones and auditory function and the possible impact on hearing. We report a case of sensorineural hearing loss due to Global System for Mobile Communication mobile phone use in a 42-year-old male. (author)

  18. Sensorineural hearing loss in hemorrhagic dengue?

    Science.gov (United States)

    Ribeiro, Bruna Natália Freire; Guimarães, Alexandre Caixeta; Yazawa, Felipe; Takara, Tammy Fumiko Messias; de Carvalho, Guilherme Machado; Zappelini, Carlos Eduardo Monteiro

    2015-01-01

    Dengue is an acute febrile infectious disease, with high fever followed by symptoms flu-like. Dengue hemorrhagic fever (DHF) is a vascular leak syndrome and could present spontaneous bleeding and worsening of symptoms after some days. Dengue could have some ENT manifestations, however hearing loss is not one of them. Sudden hearing loss is considered as sensorineural or perceptual hearing loss with a sudden onset in a person without other prior otological history. The relation between infectious diseases and sudden hearing are been investigated, some viruses were already linked, but the relation between dengue virus and sudden hearing still remains unknown. This article has the goal of presenting a case of DHF that evolved with SSHL in his hospitalization process. We report a 60 years-male patient of with DHF who developed bilateral secretory otitis media and sensorineural hearing loss after the fifth day of onset of symptoms. His hearing loss remained even after 7 months and the patient was referred for hearing aid fitting. This is the first case report that brings together DHF and sudden hearing loss. In the development of this case no other cause to sudden hearing loss was found and the correlation between dengue and hearing loss was questioned. In the literature review was found that some viruses, as mumps virus, varicella-zoster virus and HSV-1 and HSV-2 are related to sudden hearing loss, all of them fit in the viral theory. Besides the viral theory of sudden hearing loss, there is the vascular theory that is the occlusion of the end artery that supplies the cochlea. DHF has a vascular commitment, and the hypothesis of a vascular cause could be elicited in this case. Many studies in this area are needed and this article has the objective of elicit the discussion about the subject. Could dengue be associated with sensorineural hearing loss? Copyright © 2015. Published by Elsevier Ltd.

  19. Neuroimaging in CMV congenital infected neonates: how and when.

    Science.gov (United States)

    Lanari, M; Capretti, M G; Lazzarotto, T; Gabrielli, L; Rizzollo, S; Mostert, M; Manzoni, P

    2012-05-01

    Neonatal congenital infections are an important cause of mortality, morbidity and long-term neurodevelopmental and sensorineural sequelae. Many pathogens can cause in utero infection, and among them, cytomegalovirus (CMV) plays a prominent role. In developed countries, CMV poses major health problems as it is the most common pathogen leading to congenital infection, and the leading cause of nonhereditary deafness in children. Evaluation of central nervous system (CNS) involvement in congenital CMV infected newborns is mandatory to better assess the severity of the disease, to guide adequate treatment, to define prognosis, and to tailor follow-up observations and parents' counselling. Cerebral ultrasonography (cUS), Computed Tomography (CT), and Magnetic Resonance Imaging (MRI) are the currently available techniques to evaluate infants with suspected or proven congenital CMV infection. In congenital CMV infection, their role in early detection and confirmation of cerebral involvement within the first month of life is crucial to initiate specific treatment with antivirals. Neonatologists, paediatricians and radiologists should be aware of the role, the limitations and the inherent risks related to the use of these specific neuroimaging diagnostic tools in these infants. In this article we will discuss from a neonatological perspective the advantages, disadvantages, risks and limitations of each imaging technique. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

  20. Sensorineural Hearing Loss due to Air Bag Deployment

    Directory of Open Access Journals (Sweden)

    Masafumi Ohki

    2012-01-01

    Full Text Available Deployment of the air bag in a passenger vehicle accident rarely causes otologic injuries. However, sensorineural hearing loss induced by air bag deployment is extremely rare, with only a few cases reported in the English literature. A 38-year-old man involved in a traffic accident while driving his car at 40 km/hour presented with right sensorineural hearing loss and tinnitus, without associated vertigo. Pure-tone audiometry demonstrated elevated thresholds of 30 dB and 25 dB at 4 kHz and 8 kHz, respectively, on the right side. Air bag deployment in car accidents is associated with the risk of development of sensorineural hearing loss.

  1. Pulmonary Hypoplasia Caused by Fetal Ascites in Congenital Cytomegalovirus Infection Despite Fetal Therapy

    Directory of Open Access Journals (Sweden)

    Kazumichi Fujioka

    2017-11-01

    Full Text Available We report two cases of pulmonary hypoplasia due to fetal ascites in symptomatic congenital cytomegalovirus (CMV infections despite fetal therapy. The patients died soon after birth. The pathogenesis of pulmonary hypoplasia in our cases might be thoracic compression due to massive fetal ascites as a result of liver insufficiency. Despite aggressive fetal treatment, including multiple immunoglobulin administration, which was supposed to diminish the pathogenic effects of CMV either by neutralization or immunomodulatory effects, the fetal ascites was uncontrollable. To prevent development of pulmonary hypoplasia in symptomatic congenital CMV infections, further fetal intervention to reduce ascites should be considered.

  2. Congenital Cytomegalovirus infection: advances and challenges in diagnosis, prevention and treatment.

    Science.gov (United States)

    Marsico, Concetta; Kimberlin, David W

    2017-04-17

    Cytomegalovirus (CMV) is the most frequent cause of congenital infection worldwide, with an estimated incidence in developing countries of 0.6-0.7% of all live births. The burden of disease related to congenital CMV in substantial, as it is the leading non-genetic cause of sensorineural hearing loss and an important cause of neurodevelopmental disabilities in children. Despite its clinical significance, congenital CMV infection often goes undetected because the majority of infected infants are asymptomatic at birth and screening programs have not been substantially implemented. Other than behavioral measures, effective interventions aimed at the prevention of maternal infection and of mother-to-child transmission are lacking. Due to a convergence of recent advances in both diagnostic and therapeutic strategies in infants with congenital CMV, though, the field likely will be changing rapidly over just the next few years. Specifically, a highly-sensitive screening test with high throughput potential has been developed, and treatment of infants symptomatically infected with congenital CMV has proven to be well-tolerated and effective in improving long-term hearing and neurodevelopmental outcomes.This review highlights the clinical importance of congenital CMV infection, the developments in laboratory diagnostics, and the benefits of antiviral therapy. It also identifies the global efforts still required in the prevention of maternal infection and in the optimization of antiviral therapy to further reduce the burden of congenital CMV disease.

  3. The congenital "ant-egg" cataract phenotype is caused by a missense mutation in connexin46

    DEFF Research Database (Denmark)

    Hansen, Lars; Yao, Wenliang; Eiberg, Hans

    2006-01-01

    "Ant-egg" cataract is a rare, distinct variety of congenital/infantile cataract that was reported in a large Danish family in 1967. This cataract phenotype is characterized by ant-egg-like bodies embedded in the lens in a laminar configuration and is inherited as an autosomal dominant trait. We...

  4. Nonimmune hydrops fetalis caused by G6PD deficiency hemolytic crisis and congenital dyserythropoietic anemia.

    Science.gov (United States)

    Molad, M; Waisman, D; Rotschild, A; Auslander, R; Kessel, I; Soloviechick, M; Goldberg, Y; Shabad, E

    2013-06-01

    We present a case of a female neonate who had a nonimmune hydrops fetalis and severe hemolytic anemia due to a rare combination of glucose-6-phosphate dehydrogenase (G6PD) deficiency and congenital dyserythropoietic anemia. We conclude that in severe cases with persistent anemia one should search after delivery for a second reason other than G6PD deficiency alone.

  5. Congenital versus Regressive Onset of Autism Spectrum Disorders: Parents' Beliefs about Causes

    Science.gov (United States)

    Goin-Kochel, Robin P.; Myers, Barbara J.

    2005-01-01

    Recent studies have validated the phenomenon of autistic regression, but little is known about how regressive and congenital onsets of the disorder influence parents' thinking about autism and its etiology. Parents (N = 327) of children with autism spectrum disorders completed an online questionnaire about their children's development.…

  6. Variation in WNT7A is unlikely to be a cause of familial Congenital Talipes Equinovarus

    NARCIS (Netherlands)

    Liu, Guoqing; Inglis, Julie; Cardy, Amanda; Shaw, Duncan; Sahota, Sukhy; Hennekam, Raoul; Sharp, Linda; Miedzybrodzka, Zosia

    2008-01-01

    Background: Genetic factors make an important contribution to the aetiology of congenital talipes equinovarus ( CTEV), the most common developmental disorder of the lower limb. WNT7A was suggested as a candidate gene for CTEV on the basis of a genome-wide scan for linkage in a large multi-case

  7. P300 in individuals with sensorineural hearing loss

    Directory of Open Access Journals (Sweden)

    Ana Cláudia Mirandola Barbosa Reis

    2015-04-01

    Full Text Available INTRODUCTION: Behavioral and electrophysiological auditory evaluations contribute to the understanding of the auditory system and of the process of intervention.OBJECTIVE: To study P300 in subjects with severe or profound sensorineural hearing loss.METHODS: This was a descriptive cross-sectional prospective study. It included 29 individuals of both genders with severe or profound sensorineural hearing loss without other type of disorders, aged 11 to 42 years; all were assessed by behavioral audiological evaluation and auditory evoked potentials.RESULTS: A recording of the P3 wave was obtained in 17 individuals, with a mean latency of 326.97 ms and mean amplitude of 3.76 V. There were significant differences in latency in relation to age and in amplitude according to degree of hearing loss. There was a statistically significant association of the P300 results with the degrees of hearing loss (p = 0.04, with the predominant auditory communication channels (p < 0.0001, and with time of hearing loss.CONCLUSIONS: P300 can be recorded in individuals with severe and profound congenital sensorineural hearing loss; it may contribute to the understanding of cortical development and is a good predictor of the early intervention outcome.

  8. Accessory soleus muscle as a cause of congenital talipes equino varus. A case report.

    Science.gov (United States)

    Rambani, Rohit; Shahid, Muhammad Salim

    2006-10-01

    The authors report a case of congenital clubfoot in a one-year-old male child, in which an accessory soleus muscle was noted intraoperatively, running anteromedially to the Achilles tendon and with a distinct insertion on the postero-medial aspect of the calcaneus. Correction of the varus and equinus of the hindfoot could only be achieved after cutting the tendon of the accessory soleus muscle at its insertion on the calcaneus.

  9. The Pelvic Digit: A Rare Congenital Anomaly as a Cause of Hip Pain

    OpenAIRE

    Moreta-Su?rez, Jes?s; de Ugarte-Sobr?n, Oskar S?ez; S?nchez-Sobrino, Alberto; Mart?nez-De Los Mozos, Jos? Luis

    2012-01-01

    Introduction: The pelvic digit or pelvic rib is an unusual congenital anomaly with a finger or rib like bone formation in soft tissues around normal pelvic skeleton. This is a benign lesion and mostly an Incidental finding on radiographs. Most reported cases are asymptomatic and do not require intervention. We report a case of symptomatic pelvic rib that required surgical excision. Case Report: A 57-year-old man presented with a long history of pain and functional limitation in his right hip....

  10. Hearing Loss in Infants with Microcephaly and Evidence of Congenital Zika Virus Infection - Brazil, November 2015-May 2016.

    Science.gov (United States)

    Leal, Mariana C; Muniz, Lilian F; Ferreira, Tamires S A; Santos, Cristiane M; Almeida, Luciana C; Van Der Linden, Vanessa; Ramos, Regina C F; Rodrigues, Laura C; Neto, Silvio S Caldas

    2016-09-02

    Congenital infection with Zika virus causes microcephaly and other brain abnormalities (1). Hearing loss associated with other congenital viral infections is well described; however, little is known about hearing loss in infants with congenital Zika virus infection. A retrospective assessment of a series of 70 infants aged 0-10 months with microcephaly and laboratory evidence of Zika virus infection was conducted by the Hospital Agamenon Magalhães in Brazil and partners. The infants were enrolled during November 2015-May 2016 and had screening and diagnostic hearing tests. Five (7%) infants had sensorineural hearing loss, all of whom had severe microcephaly; however, one child was tested after receiving treatment with an ototoxic antibiotic. If this child is excluded, the prevalence of sensorineural hearing loss was 5.8% (four of 69), which is similar to that seen in association with other congenital viral infections. Additional information is needed to understand the prevalence and spectrum of hearing loss in children with congenital Zika virus infection; all infants born to women with evidence of Zika virus infection during pregnancy should have their hearing tested, including infants who appear normal at birth.

  11. Evaluation and management of cytomegalovirus-associated congenital hearing loss.

    Science.gov (United States)

    Dobbie, Allison M

    2017-10-01

    The current article reviews the current literature related to congenital cytomegalovirus (CMV)-related hearing loss. The discussion will focus on the epidemiology, pathogenesis, and clinical presentation of human CMV infection as it pertains to hearing loss. Current methods of CMV diagnosis with a focus on the evolving trend toward broader neonatal screening protocols will also be explored. Discussion of medical, surgical, and audiologic management of the condition will also be addressed. Much of the current research on this topic is focused on improving detection of CMV through screening programs. Some advances in understanding cochlear pathogenesis have also been made. Congenital CMV infection remains an important cause of hearing loss in infants and children. Early detection of CMV infection can broaden treatment options and allow for improved hearing and language outcome for patients with CMV-associated sensorineural hearing loss.

  12. Congenital nasal pyriform aperture stenosis as a cause of respiratory distress in newborns: presentation diagnosed by menas of CT

    International Nuclear Information System (INIS)

    Wichoff, A.; Perez-Candela, V.; Romera, C.; Lopez-Morales, L.

    2002-01-01

    Congenital nasal pyriform aperture stenosis (CNPAS) is a rare cause of newborn airway obstruction. It can be clinically indistinguishable from choanal atresia, which is much more frequent. CT confirms the diagnosis by revealing in detail the anatomical alterations underlying this anomaly. These might or might not occur in association with other alterations. We present 4 cases of CNPAS, all of which presented respiratory distress and clinical symptoms similar to those of choanal atresia in newborn children. The premature diagnosis and a conventional treatment of tube placement in order to keep the airway open, until the pyriform aperture grows large enough to permit normal breathing, resulted in recovery of the patients. (Author) 12 refs

  13. Sensorineural hearing loss in hemorrhagic dengue?

    Directory of Open Access Journals (Sweden)

    Bruna Natália Freire Ribeiro

    2015-01-01

    Discussion and conclusion: This is the first case report that brings together DHF and sudden hearing loss. In the development of this case no other cause to sudden hearing loss was found and the correlation between dengue and hearing loss was questioned. In the literature review was found that some viruses, as mumps virus, varicella-zoster virus and HSV-1 and HSV-2 are related to sudden hearing loss, all of them fit in the viral theory. Besides the viral theory of sudden hearing loss, there is the vascular theory that is the occlusion of the end artery that supplies the cochlea. DHF has a vascular commitment, and the hypothesis of a vascular cause could be elicited in this case. Many studies in this area are needed and this article has the objective of elicit the discussion about the subject. Could dengue be associated with sensorineural hearing loss?

  14. Zika Virus Infection as a Cause of Congenital Brain Abnormalities and Guillain-Barré Syndrome: Systematic Review.

    Directory of Open Access Journals (Sweden)

    Fabienne Krauer

    2017-01-01

    Full Text Available The World Health Organization (WHO stated in March 2016 that there was scientific consensus that the mosquito-borne Zika virus was a cause of the neurological disorder Guillain-Barré syndrome (GBS and of microcephaly and other congenital brain abnormalities based on rapid evidence assessments. Decisions about causality require systematic assessment to guide public health actions. The objectives of this study were to update and reassess the evidence for causality through a rapid and systematic review about links between Zika virus infection and (a congenital brain abnormalities, including microcephaly, in the foetuses and offspring of pregnant women and (b GBS in any population, and to describe the process and outcomes of an expert assessment of the evidence about causality.The study had three linked components. First, in February 2016, we developed a causality framework that defined questions about the relationship between Zika virus infection and each of the two clinical outcomes in ten dimensions: temporality, biological plausibility, strength of association, alternative explanations, cessation, dose-response relationship, animal experiments, analogy, specificity, and consistency. Second, we did a systematic review (protocol number CRD42016036693. We searched multiple online sources up to May 30, 2016 to find studies that directly addressed either outcome and any causality dimension, used methods to expedite study selection, data extraction, and quality assessment, and summarised evidence descriptively. Third, WHO convened a multidisciplinary panel of experts who assessed the review findings and reached consensus statements to update the WHO position on causality. We found 1,091 unique items up to May 30, 2016. For congenital brain abnormalities, including microcephaly, we included 72 items; for eight of ten causality dimensions (all except dose-response relationship and specificity, we found that more than half the relevant studies supported

  15. Zika Virus Infection as a Cause of Congenital Brain Abnormalities and Guillain-Barré Syndrome: Systematic Review.

    Science.gov (United States)

    Krauer, Fabienne; Riesen, Maurane; Reveiz, Ludovic; Oladapo, Olufemi T; Martínez-Vega, Ruth; Porgo, Teegwendé V; Haefliger, Anina; Broutet, Nathalie J; Low, Nicola

    2017-01-01

    The World Health Organization (WHO) stated in March 2016 that there was scientific consensus that the mosquito-borne Zika virus was a cause of the neurological disorder Guillain-Barré syndrome (GBS) and of microcephaly and other congenital brain abnormalities based on rapid evidence assessments. Decisions about causality require systematic assessment to guide public health actions. The objectives of this study were to update and reassess the evidence for causality through a rapid and systematic review about links between Zika virus infection and (a) congenital brain abnormalities, including microcephaly, in the foetuses and offspring of pregnant women and (b) GBS in any population, and to describe the process and outcomes of an expert assessment of the evidence about causality. The study had three linked components. First, in February 2016, we developed a causality framework that defined questions about the relationship between Zika virus infection and each of the two clinical outcomes in ten dimensions: temporality, biological plausibility, strength of association, alternative explanations, cessation, dose-response relationship, animal experiments, analogy, specificity, and consistency. Second, we did a systematic review (protocol number CRD42016036693). We searched multiple online sources up to May 30, 2016 to find studies that directly addressed either outcome and any causality dimension, used methods to expedite study selection, data extraction, and quality assessment, and summarised evidence descriptively. Third, WHO convened a multidisciplinary panel of experts who assessed the review findings and reached consensus statements to update the WHO position on causality. We found 1,091 unique items up to May 30, 2016. For congenital brain abnormalities, including microcephaly, we included 72 items; for eight of ten causality dimensions (all except dose-response relationship and specificity), we found that more than half the relevant studies supported a causal

  16. Zika Virus Infection as a Cause of Congenital Brain Abnormalities and Guillain–Barré Syndrome: Systematic Review

    Science.gov (United States)

    Reveiz, Ludovic; Oladapo, Olufemi T.; Martínez-Vega, Ruth; Haefliger, Anina

    2017-01-01

    Background The World Health Organization (WHO) stated in March 2016 that there was scientific consensus that the mosquito-borne Zika virus was a cause of the neurological disorder Guillain–Barré syndrome (GBS) and of microcephaly and other congenital brain abnormalities based on rapid evidence assessments. Decisions about causality require systematic assessment to guide public health actions. The objectives of this study were to update and reassess the evidence for causality through a rapid and systematic review about links between Zika virus infection and (a) congenital brain abnormalities, including microcephaly, in the foetuses and offspring of pregnant women and (b) GBS in any population, and to describe the process and outcomes of an expert assessment of the evidence about causality. Methods and Findings The study had three linked components. First, in February 2016, we developed a causality framework that defined questions about the relationship between Zika virus infection and each of the two clinical outcomes in ten dimensions: temporality, biological plausibility, strength of association, alternative explanations, cessation, dose–response relationship, animal experiments, analogy, specificity, and consistency. Second, we did a systematic review (protocol number CRD42016036693). We searched multiple online sources up to May 30, 2016 to find studies that directly addressed either outcome and any causality dimension, used methods to expedite study selection, data extraction, and quality assessment, and summarised evidence descriptively. Third, WHO convened a multidisciplinary panel of experts who assessed the review findings and reached consensus statements to update the WHO position on causality. We found 1,091 unique items up to May 30, 2016. For congenital brain abnormalities, including microcephaly, we included 72 items; for eight of ten causality dimensions (all except dose–response relationship and specificity), we found that more than half the

  17. Asplenia in children with congenital heart disease as a cause of poor outcome.

    Science.gov (United States)

    Erdem, Semiha Bahceci; Genel, Ferah; Erdur, Baris; Ozbek, Erhan; Gulez, Nesrin; Mese, Timur

    2015-01-01

    The absence of a spleen is a well-known risk factor for severe bacterial infections, especially due to encapsulated bacteria. Congenital asplenia can be part of multiple congenital abnormalities as in heterotaxy including Ivemark syndrome with congenital anomalies of the heart or great vessels, or it can be isolated, which is extremely rare. In these cases, asplenia is an important factor effecting mortality. In this report, the clinical courses of five children with asplenia and concomitant minor or complex cardiac anomalies are presented. The ages of the children ranged between 1.5 and 17 months at the time of diagnosis. All of the cases had had a history of hospitalisation for infectious diseases before the diagnosis. The patient who was diagnosed at 17 months old had a history pneumonia, urinary tract infection, and bacterial meningitis beginning at five months old. Three children had complex cardiac anomalies, one child had ventricular septal defect, and one child had atrial septal defect. Howell-Jolly bodies were determined in peripheral blood smear in all of the patients. The diagnoses of asplenia were confirmed with spleen scintigraphy. One of the patients with complex cardiac anomalies died a short time after diagnosis, because of cardiac failure. The rest of the four patients were vaccinated for encapsulated bacteria and were taken under antibiotic prophylaxis. These children did not need hospitalisation for infectious diseases during the follow-up period (5-40 months). In asplenic children, early diagnosis, antibiotic prophylaxis, and immunisation for encapsulated bacteria can decrease the risk of morbidity and mortality.

  18. Congenital cervical dermal sinus tract caused tethered cord syndrome in an adult: a case report

    OpenAIRE

    Karatas, Y; Ustun, ME

    2015-01-01

    The objective of this study was to report on a 34-year-old woman who presented with tethered cord syndrome due to dermal sinüs tract. A 34-year-old woman had got dermal sınüs tract admitted to our hospital with swelling on the neck, pain and numbness on the left upper limb. She was treated by surgical removal of dermal sinuses and untethering the spinal cord which is stretched by the dermal sinus. Congenital dermal sinus tracts are uncommon types of cranial and spinal dysraphisms. They can oc...

  19. Neuroimaging findings of congenital Zika virus infection: a pictorial essay.

    Science.gov (United States)

    Zare Mehrjardi, Mohammad; Poretti, Andrea; Huisman, Thierry A G M; Werner, Heron; Keshavarz, Elham; Araujo Júnior, Edward

    2017-03-01

    Zika virus (ZIKV) is a mosquito-borne arbovirus from the Flaviviridae family. It had caused several epidemics since its discovery in 1947, but there was no significant attention to this virus until the recent outbreak in Brazil in 2015. The main concern is the causal relationship between prenatal ZIKV infection and congenital microcephaly, which has been confirmed recently. Moreover, ZIKV may cause other central nervous system abnormalities such as brain parenchymal atrophy with secondary ventriculomegaly, intracranial calcification, malformations of cortical development (such as polymicrogyria, and lissencephaly-pachygyria), agenesis/hypoplasia of the corpus callosum, cerebellar and brainstem hypoplasia, sensorineural hearing-loss, and ocular abnormalities as well as arthrogryposis in the infected fetuses. Postnatal (acquired) ZIKV infection usually has an asymptomatic or mildly symptomatic course, while prenatal (congenital) ZIKV infection has a more severe course and may cause severe brain anomalies that are described as congenital Zika syndrome. In this pictorial essay, we aim to illustrate the prenatal and postnatal neuroimaging findings that may be seen in fetuses and neonates with congenital Zika syndrome, and will discuss possible radiological differential diagnoses. A detailed knowledge of these findings is paramount for an early correct diagnosis, prognosis determination, and counseling of the affected children and families.

  20. Acute sensorineural hearing loss and severe otalgia due to scrub typhus

    Directory of Open Access Journals (Sweden)

    Kim Dong-Min

    2009-10-01

    Full Text Available Abstract Background Scrub typhus is an acute febrile illness caused by Orientia tsutsugamushi. Case presentations We encountered a patient with sensorineural hearing loss complicating scrub typhus, and three patients with scrub typhus who complained of otalgia, which was sudden onset, severe, paroxysmal, intermittent yet persistent pain lasting for several seconds, appeared within 1 week after the onset of fever and rash. The acute sensorineural hearing loss and otalgia were resolved after antibiotic administration. Conclusion When patients in endemic areas present with fever and rash and have sensorineural hearing loss or otalgia without otoscopic abnormalities, clinicians should suspect scrub typhus and consider empirical antibiotic therapy.

  1. Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or ‘classical’ congenital myopathy

    Science.gov (United States)

    Zaharieva, Irina T.; Thor, Michael G.; Oates, Emily C.; van Karnebeek, Clara; Hendson, Glenda; Blom, Eveline; Witting, Nanna; Rasmussen, Magnhild; Gabbett, Michael T.; Ravenscroft, Gianina; Sframeli, Maria; Suetterlin, Karen; Sarkozy, Anna; D’Argenzio, Luigi; Hartley, Louise; Matthews, Emma; Pitt, Matthew; Vissing, John; Ballegaard, Martin; Krarup, Christian; Slørdahl, Andreas; Halvorsen, Hanne; Ye, Xin Cynthia; Zhang, Lin-Hua; Løkken, Nicoline; Werlauff, Ulla; Abdelsayed, Mena; Davis, Mark R.; Feng, Lucy; Phadke, Rahul; Sewry, Caroline A.; Morgan, Jennifer E.; Laing, Nigel G.; Vallance, Hilary; Ruben, Peter; Hanna, Michael G.; Lewis, Suzanne; Kamsteeg, Erik-Jan; Männikkö, Roope

    2016-01-01

    See Cannon (doi:10.1093/brain/awv400) for a scientific commentary on this article. Congenital myopathies are a clinically and genetically heterogeneous group of muscle disorders characterized by congenital or early-onset hypotonia and muscle weakness, and specific pathological features on muscle biopsy. The phenotype ranges from foetal akinesia resulting in in utero or neonatal mortality, to milder disorders that are not life-limiting. Over the past decade, more than 20 new congenital myopathy genes have been identified. Most encode proteins involved in muscle contraction; however, mutations in ion channel-encoding genes are increasingly being recognized as a cause of this group of disorders. SCN4A encodes the α-subunit of the skeletal muscle voltage-gated sodium channel (Nav1.4). This channel is essential for the generation and propagation of the muscle action potential crucial to muscle contraction. Dominant SCN4A gain-of-function mutations are a well-established cause of myotonia and periodic paralysis. Using whole exome sequencing, we identified homozygous or compound heterozygous SCN4A mutations in a cohort of 11 individuals from six unrelated kindreds with congenital myopathy. Affected members developed in utero- or neonatal-onset muscle weakness of variable severity. In seven cases, severe muscle weakness resulted in death during the third trimester or shortly after birth. The remaining four cases had marked congenital or neonatal-onset hypotonia and weakness associated with mild-to-moderate facial and neck weakness, significant neonatal-onset respiratory and swallowing difficulties and childhood-onset spinal deformities. All four surviving cohort members experienced clinical improvement in the first decade of life. Muscle biopsies showed myopathic features including fibre size variability, presence of fibrofatty tissue of varying severity, without specific structural abnormalities. Electrophysiology suggested a myopathic process, without myotonia. In vitro

  2. Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.

    Science.gov (United States)

    Zaharieva, Irina T; Thor, Michael G; Oates, Emily C; van Karnebeek, Clara; Hendson, Glenda; Blom, Eveline; Witting, Nanna; Rasmussen, Magnhild; Gabbett, Michael T; Ravenscroft, Gianina; Sframeli, Maria; Suetterlin, Karen; Sarkozy, Anna; D'Argenzio, Luigi; Hartley, Louise; Matthews, Emma; Pitt, Matthew; Vissing, John; Ballegaard, Martin; Krarup, Christian; Slørdahl, Andreas; Halvorsen, Hanne; Ye, Xin Cynthia; Zhang, Lin-Hua; Løkken, Nicoline; Werlauff, Ulla; Abdelsayed, Mena; Davis, Mark R; Feng, Lucy; Phadke, Rahul; Sewry, Caroline A; Morgan, Jennifer E; Laing, Nigel G; Vallance, Hilary; Ruben, Peter; Hanna, Michael G; Lewis, Suzanne; Kamsteeg, Erik-Jan; Männikkö, Roope; Muntoni, Francesco

    2016-03-01

    Congenital myopathies are a clinically and genetically heterogeneous group of muscle disorders characterized by congenital or early-onset hypotonia and muscle weakness, and specific pathological features on muscle biopsy. The phenotype ranges from foetal akinesia resulting in in utero or neonatal mortality, to milder disorders that are not life-limiting. Over the past decade, more than 20 new congenital myopathy genes have been identified. Most encode proteins involved in muscle contraction; however, mutations in ion channel-encoding genes are increasingly being recognized as a cause of this group of disorders. SCN4A encodes the α-subunit of the skeletal muscle voltage-gated sodium channel (Nav1.4). This channel is essential for the generation and propagation of the muscle action potential crucial to muscle contraction. Dominant SCN4A gain-of-function mutations are a well-established cause of myotonia and periodic paralysis. Using whole exome sequencing, we identified homozygous or compound heterozygous SCN4A mutations in a cohort of 11 individuals from six unrelated kindreds with congenital myopathy. Affected members developed in utero- or neonatal-onset muscle weakness of variable severity. In seven cases, severe muscle weakness resulted in death during the third trimester or shortly after birth. The remaining four cases had marked congenital or neonatal-onset hypotonia and weakness associated with mild-to-moderate facial and neck weakness, significant neonatal-onset respiratory and swallowing difficulties and childhood-onset spinal deformities. All four surviving cohort members experienced clinical improvement in the first decade of life. Muscle biopsies showed myopathic features including fibre size variability, presence of fibrofatty tissue of varying severity, without specific structural abnormalities. Electrophysiology suggested a myopathic process, without myotonia. In vitro functional assessment in HEK293 cells of the impact of the identified SCN4A

  3. A novel mutation in the GCM2 gene causing severe congenital isolated hypoparathyroidism

    Science.gov (United States)

    Doyle, Daniel; Kirwin, Susan M.; Sol-Church, Katia; Levine, Michael A.

    2013-01-01

    Objective To investigate the GCM2 gene in three siblings with congenital hypoparathyroidism and perform functional analysis. Materials and methods We sequenced the GCM2 gene by PCR and analyzed the functional consequence of the mutation by transient transfection studies. Haplotype analysis was performed. Results We identified a nucleotide change, c.408C>A, in exon 3 that is predicted to truncate the Gcm2 protein (p.Tyr136Ter). All three affected siblings were homozygous and both parents were heterozygous for the mutation. Transfection studies revealed the mutant mRNA but not expression of the Gcm2 protein. Haplotype analysis revealed that the two mutant GCM2 alleles shared genotypes on chromosome 6p24.2. Conclusions We describe the first GCM2 mutation in exon 3 in patients with severe congenital hypoparathyroidism. Informative genetic markers could not exclude identity by descent for the mutant alleles. Gcm2 protein was not detected after transfection, suggesting that complete lack of Gcm2 action accounts for severe hypoparathyroidism. PMID:23155703

  4. Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia.

    Science.gov (United States)

    Travaglini, Lorena; Nardella, Marta; Bellacchio, Emanuele; D'Amico, Adele; Capuano, Alessandro; Frusciante, Roberto; Di Capua, Matteo; Cusmai, Raffaella; Barresi, Sabina; Morlino, Silvia; Fernández-Fernández, José M; Trivisano, Marina; Specchio, Nicola; Valeriani, Massimiliano; Vigevano, Federico; Bertini, Enrico; Zanni, Ginevra

    2017-05-01

    Mutations in the CACNA1A gene, encoding the pore-forming CaV2.1 (P/Q-type) channel α1A subunit, localized at presynaptic terminals of brain and cerebellar neurons, result in clinically variable neurological disorders including hemiplegic migraine (HM) and episodic or progressive adult-onset ataxia (EA2, SCA6). Most recently, CACNA1A mutations have been identified in patients with nonprogressive congenital ataxia (NPCA). We performed targeted resequencing of known genes involved in cerebellar dysfunction, in 48 patients with congenital or early onset ataxia associated with cerebellar and/or vermis atrophy. De novo missense mutations of CACNA1A were found in four patients (4/48, ∼8.3%). Three of them developed migraine before or after the onset of ataxia. Seizures were present in half of the cases. Our results expand the clinical and mutational spectrum of CACNA1A-related phenotype in childhood and suggest that CACNA1A screening should be implemented in this subgroup of ataxias. Copyright © 2016 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

  5. Congenital cytomegalovirus infection: disease burden and screening tools : towards newborn screening

    OpenAIRE

    Vries, Jutte Jacoba Catharina de

    2012-01-01

    Cytomegalovirus (CMV) infection is the most common congenital viral infection worldwide. The symptom of congenital CMV infection encountered most frequently is sensorineural hearing loss, which will affect approximately one out of five congenitally infected newborns. Because of the late-onset nature of the hearing loss, up to half of the children with congenital CMV-related hearing loss may not be detected in the newborn hearing screening. This thesis addresses several aspects of congenital CM...

  6. Visual outcomes of bilateral congenital and developmental cataracts in young children in south India and causes of poor outcome

    Directory of Open Access Journals (Sweden)

    Rohit C Khanna

    2013-01-01

    Full Text Available Context: Bilateral pediatric cataracts are important cause of visual impairment in children. Aim: To study the outcome of bilateral pediatric cataract surgery in young children. Setting and Design: Retrospective case series in a tertiary center. Materials and Methods: Records of pediatric cataracts operated between January 2001 and December 2003, with a minimum follow-up of 3 months, were reviewed retrospectively. Statistical Methods: Independent sample t-test, Fisher′s exact test, and logistic regression using SPSS (Statistical Package for Social Science, Chicago, USA version 12. Results: 215/257 (83.7% patients had a minimum follow-up of 3 months. The mean age of presentation to the hospital was 53 months (range: 0-168 months. Congenital cataract was present in 107 patients (58.2% and developmental cataract in 77 patients (41.8%. The mean age at surgery was 55.2 months (range: 1-168 months. Out of 430 eyes, 269 (62.6% had an intraocular lens implanted. The mean duration of follow-up was 13.1 months (range: 3-38 months. Pre-operatively, 102 patients (47.3% had visual acuity 6/18. The most common early post-operative complication was fibrinous uveitis in 57 eyes (13.3% and the most common delayed post-operative complication was posterior capsular opacification in 118 eyes (27.4%. The most important prognostic factor for poor outcome was congenital cataract (odds ratio [OR]: 26.3; 95% confidence interval [CI], 4.4-158.5 and total cataract (OR: 4.8; 95% CI, 1.3-17. Conclusion: Nearly half of the eyes had visual acuity >6/18. The outcome was poorer in congenital cataracts, especially those operated after >1 year of age.

  7. Congenital cytomegalovirus infection : disease burden and screening tools : towards newborn screening

    NARCIS (Netherlands)

    Vries, Jutte Jacoba Catharina de

    2012-01-01

    Cytomegalovirus (CMV) infection is the most common congenital viral infection worldwide. The symptom of congenital CMV infection encountered most frequently is sensorineural hearing loss, which will affect approximately one out of five congenitally infected newborns. Because of the late-onset nature

  8. Recurrent spontaneous hypoglycaemia causes loss of neurogenic and neuroglycopaenic signs in infants with Congenital Hyperinsulinism

    DEFF Research Database (Denmark)

    Christesen, Henrik Thybo; Brusgaard, Klaus; Hussain, Khalid

    Background: Hypoglycaemia-associated autonomic failure (HAAF) with impaired neurogenic and neuroglycopaenic responses occurs in adults following recent, repeated hypoglycaemia. Objective and hypotheses: We aimed to evaluate, whether HAAF also occurs in infants with congenital hyperinsulinism (CHI......). Methods: The autonomic, neuroglycopaenic, and glucose counter-regulatory hormonal responses were assessed in a) seven infants with CHI during a controlled fast following initial symptomatic hypoglycaemia and three recent episodes of spontaneous recurrent hypoglycaemia each lasting less than 5 minutes......; and in b) seven infants with ketotic hypoglycaemia for control. Results: When repeated hypoglycaemia was provoked, all CHI patients exhibited a complete loss of hypoglycaemic symptoms and signs, along with a global blunting of the counter-regulatory cortisol, glucagon, growth hormone, epinephrine and nor...

  9. A rare cause of congenital diarrhea in a Turkish newborn: tufting enteropathy.

    Science.gov (United States)

    Kahvecioğlu, Dilek; Yıldız, Duran; Kılıç, Atilla; İnce-Alkan, Banu; Erdeve, Ömer; Kuloğlu, Zarife; Atasay, Begüm; Ensari, Arzu; Yılmaz, Resul; Arsan, Saadet

    2014-01-01

    Tufting enteropathy is an autosomal recessive congenital enteropathy presenting with early-onset severe intractable diarrhea. It presents with watery diarrhea that develops in the first days after birth and persists despite bowel rest. Growth is impaired, and most patients require total parenteral nutrition. The histological characteristic of tufting enteropathy is the presence of epithelial tufts. We hereby present a patient who was referred to our neonatal intensive care unit because of chronic diarrhea and diagnosed with tufting enteropathy according to histological examination. To the best of our knowledge, the newborn case presented here is the first one reported from Turkey. As TE is a very rare disease, it should be considered in patients with continuing diarrhea beginning in the first days of life.

  10. De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.

    Science.gov (United States)

    Tokita, Mari J; Braxton, Alicia A; Shao, Yunru; Lewis, Andrea M; Vincent, Marie; Küry, Sébastien; Besnard, Thomas; Isidor, Bertrand; Latypova, Xénia; Bézieau, Stéphane; Liu, Pengfei; Motter, Connie S; Melver, Catherine Ward; Robin, Nathaniel H; Infante, Elena M; McGuire, Marianne; El-Gharbawy, Areeg; Littlejohn, Rebecca O; McLean, Scott D; Bi, Weimin; Bacino, Carlos A; Lalani, Seema R; Scott, Daryl A; Eng, Christine M; Yang, Yaping; Schaaf, Christian P; Walkiewicz, Magdalena A

    2016-09-01

    SON is a key component of the spliceosomal complex and a critical mediator of constitutive and alternative splicing. Additionally, SON has been shown to influence cell-cycle progression, genomic integrity, and maintenance of pluripotency in stem cell populations. The clear functional relevance of SON in coordinating essential cellular processes and its presence in diverse human tissues suggests that intact SON might be crucial for normal growth and development. However, the phenotypic effects of deleterious germline variants in SON have not been clearly defined. Herein, we describe seven unrelated individuals with de novo variants in SON and propose that deleterious variants in SON are associated with a severe multisystem disorder characterized by developmental delay, persistent feeding difficulties, and congenital malformations, including brain anomalies. Copyright © 2016 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  11. Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cells.

    Science.gov (United States)

    Oates, Emily C; Reddel, Stephen; Rodriguez, Michael L; Gandolfo, Luke C; Bahlo, Melanie; Hawke, Simon H; Lamandé, Shireen R; Clarke, Nigel F; North, Kathryn N

    2012-06-01

    Autosomal dominant congenital spinal muscular atrophy is characterized by predominantly lower limb weakness and wasting, and congenital or early-onset contractures of the hip, knee and ankle. Mutations in TRPV4, encoding a cation channel, have recently been identified in one large dominant congenital spinal muscular atrophy kindred, but the genetic basis of dominant congenital spinal muscular atrophy in many families remains unknown. It has been hypothesized that differences in the timing and site of anterior horn cell loss in the central nervous system account for the variations in clinical phenotype between different forms of spinal muscular atrophy, but there has been a lack of neuropathological data to support this concept in dominant congenital spinal muscular atrophy. We report clinical, electrophysiology, muscle magnetic resonance imaging and histopathology findings in a four generation family with typical dominant congenital spinal muscular atrophy features, without mutations in TRPV4, and in whom linkage to other known dominant neuropathy and spinal muscular atrophy genes has been excluded. The autopsy findings in the proband, who died at 14 months of age from an unrelated illness, provided a rare opportunity to study the neuropathological basis of dominant congenital spinal muscular atrophy. There was a reduction in anterior horn cell number in the lumbar and, to a lesser degree, the cervical spinal cord, and atrophy of the ventral nerve roots at these levels, in the absence of additional peripheral nerve pathology or abnormalities elsewhere along the neuraxis. Despite the young age of the child at the time of autopsy, there was no pathological evidence of ongoing loss or degeneration of anterior horn cells suggesting that anterior horn cell loss in dominant congenital spinal muscular atrophy occurs in early life, and is largely complete by the end of infancy. These findings confirm that dominant congenital spinal muscular atrophy is a true form of spinal

  12. Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts.

    Science.gov (United States)

    Irum, Bushra; Khan, Shahid Y; Ali, Muhammad; Daud, Muhammad; Kabir, Firoz; Rauf, Bushra; Fatima, Fareeha; Iqbal, Hira; Khan, Arif O; Al Obaisi, Saif; Naeem, Muhammad Asif; Nasir, Idrees A; Khan, Shaheen N; Husnain, Tayyab; Riazuddin, Sheikh; Akram, Javed; Eghrari, Allen O; Riazuddin, S Amer

    2016-01-01

    The aim of this study is to identify the molecular basis of autosomal recessive congenital cataracts (arCC) in a large consanguineous pedigree. All participating individuals underwent a detailed ophthalmic examination. Each patient's medical history, particularly of cataracts and other ocular abnormalities, was compiled from available medical records and interviews with family elders. Blood samples were donated by all participating family members and used to extract genomic DNA. Genetic analysis was performed to rule out linkage to known arCC loci and genes. Whole-exome sequencing libraries were prepared and paired-end sequenced. A large deletion was found that segregated with arCC in the family, and chromosome walking was conducted to estimate the proximal and distal boundaries of the deletion mutation. Exclusion and linkage analysis suggested linkage to a region of chromosome 6p24 harboring GCNT2 (glucosaminyl (N-acetyl) transferase 2) with a two-point logarithm of odds score of 5.78. PCR amplifications of the coding exons of GCNT2 failed in individuals with arCC, and whole-exome data analysis revealed a large deletion on chromosome 6p in the region harboring GCNT2. Chromosomal walking using multiple primer pairs delineated the extent of the deletion to approximately 190 kb. Interestingly, a failure to amplify a junctional fragment of the deletion break strongly suggests an insertion in addition to the large deletion. Here, we report a novel insertion/deletion mutation at the GCNT2 locus that is responsible for congenital cataracts in a large consanguineous family.

  13. The spectrum of cranial ultrasound and magnetic resonance imaging abnormalities in congenital cytomegalovirus infection

    NARCIS (Netherlands)

    de Vries, L. S.; Gunardi, H.; Barth, P. G.; Bok, L. A.; Verboon-Maciolek, M. A.; Groenendaal, F.

    2004-01-01

    Congenital cytomegalovirus (CMV) infection can lead to severe neurological sequelae and (progressive) sensorineural deafness. Neonatal imaging data is mainly based on cranial ultrasound (US) and computed tomography (CT). The additional value of magnetic resonance imaging (MRI) was assessed in

  14. Identification of an Agrin Mutation that Causes Congenital Myasthenia and Affects Synapse Function

    Science.gov (United States)

    Huzé, Caroline; Bauché, Stéphanie; Richard, Pascale; Chevessier, Frédéric; Goillot, Evelyne; Gaudon, Karen; Ben Ammar, Asma; Chaboud, Annie; Grosjean, Isabelle; Lecuyer, Heba-Aude; Bernard, Véronique; Rouche, Andrée; Alexandri, Nektaria; Kuntzer, Thierry; Fardeau, Michel; Fournier, Emmanuel; Brancaccio, Andrea; Rüegg, Markus A.; Koenig, Jeanine; Eymard, Bruno; Schaeffer, Laurent; Hantaï, Daniel

    2009-01-01

    We report the case of a congenital myasthenic syndrome due to a mutation in AGRN, the gene encoding agrin, an extracellular matrix molecule released by the nerve and critical for formation of the neuromuscular junction. Gene analysis identified a homozygous missense mutation, c.5125G>C, leading to the p.Gly1709Arg variant. The muscle-biopsy specimen showed a major disorganization of the neuromuscular junction, including changes in the nerve-terminal cytoskeleton and fragmentation of the synaptic gutters. Experiments performed in nonmuscle cells or in cultured C2C12 myotubes and using recombinant mini-agrin for the mutated and the wild-type forms showed that the mutated form did not impair the activation of MuSK or change the total number of induced acetylcholine receptor aggregates. A solid-phase assay using the dystrophin glycoprotein complex showed that the mutation did not affect the binding of agrin to α-dystroglycan. Injection of wild-type or mutated agrin into rat soleus muscle induced the formation of nonsynaptic acetylcholine receptor clusters, but the mutant protein specifically destabilized the endogenous neuromuscular junctions. Importantly, the changes observed in rat muscle injected with mutant agrin recapitulated the pre- and post-synaptic modifications observed in the patient. These results indicate that the mutation does not interfere with the ability of agrin to induce postsynaptic structures but that it dramatically perturbs the maintenance of the neuromuscular junction. PMID:19631309

  15. Congenital cervical dermal sinus tract caused tethered cord syndrome in an adult: a case report.

    Science.gov (United States)

    Karatas, Y; Ustun, M E

    2015-01-01

    The objective of this study was to report on a 34-year-old woman who presented with tethered cord syndrome due to dermal sinüs tract. A 34-year-old woman had got dermal sınüs tract admitted to our hospital with swelling on the neck, pain and numbness on the left upper limb. She was treated by surgical removal of dermal sinuses and untethering the spinal cord which is stretched by the dermal sinus. Congenital dermal sinus tracts are uncommon types of cranial and spinal dysraphisms. They can occur in the midline of the craniospinal axis from the occiput to the sacral region. For dermal sinuses, cervical region is very rare location that is reported in the literature. They are diagnosed usually in childhood with skin signs, neurological deficits, local infections and meningitis. We present a rare case of dermal sinus tract located in cervical region. Early diagnosis and treatment of cervical dermal sinus tract are important to prevent neurological deficits.

  16. Conditional deletion of WT1 in the septum transversum mesenchyme causes congenital diaphragmatic hernia in mice.

    Science.gov (United States)

    Carmona, Rita; Cañete, Ana; Cano, Elena; Ariza, Laura; Rojas, Anabel; Muñoz-Chápuli, Ramon

    2016-09-19

    Congenital diaphragmatic hernia (CDH) is a severe birth defect. Wt1-null mouse embryos develop CDH but the mechanisms regulated by WT1 are unknown. We have generated a murine model with conditional deletion of WT1 in the lateral plate mesoderm, using the G2 enhancer of the Gata4 gene as a driver. 80% of G2-Gata4(Cre);Wt1(fl/fl) embryos developed typical Bochdalek-type CDH. We show that the posthepatic mesenchymal plate coelomic epithelium gives rise to a mesenchyme that populates the pleuroperitoneal folds isolating the pleural cavities before the migration of the somitic myoblasts. This process fails when Wt1 is deleted from this area. Mutant embryos show Raldh2 downregulation in the lateral mesoderm, but not in the intermediate mesoderm. The mutant phenotype was partially rescued by retinoic acid treatment of the pregnant females. Replacement of intermediate by lateral mesoderm recapitulates the evolutionary origin of the diaphragm in mammals. CDH might thus be viewed as an evolutionary atavism.

  17. Congenital diaphragmatic eventration as a cause of anterior mediastinal mass in the children: imaging modalities and literature review

    International Nuclear Information System (INIS)

    Eren, Suat; Ceviz, Naci; Alper, Fatih

    2004-01-01

    Congenital eventration of the diaphragm, as a cause of mediastinal mass, is an unusual condition and it may be unilateral or bilateral. Although this entity is frequently asymptomatic and firstly detected on the chest radiography, it may be difficult to distinguish a partial eventration from the other diaphragmatic lesions or mediastinal pathologies on the chest radiographs. US may present valuable information about diaphragm integrity with eventration content or the other diaphragmatic pathologies. Although the other imaging modalities such as fluoroscopy, computed tomography, and MR imaging may be performed as adjunct techniques in cases of the diagnosis still in doubt, they are frequently unnecessary after US. Our goal is to present imaging features and management of this entity together with a literature review

  18. Variation in WNT7A is unlikely to be a cause of familial Congenital Talipes Equinovarus

    Directory of Open Access Journals (Sweden)

    Hennekam Raoul

    2008-06-01

    Full Text Available Abstract Background Genetic factors make an important contribution to the aetiology of congenital talipes equinovarus (CTEV, the most common developmental disorder of the lower limb. WNT7A was suggested as a candidate gene for CTEV on the basis of a genome-wide scan for linkage in a large multi-case family. WNT7A is a plausible candidate gene for CTEV as it provides a signal for pattern formation during limb development, and mutation in WNT7A has been reported in a number of limb malformation syndromes. Methods We investigated the role of WNT7A using a family-based linkage approach in our large series of European multi-case CTEV families. Three microsatellite markers were used, of which one (D3S2385 is intragenic, and the other two (D3S2403, D3S1252 are 700 kb 5' to the start and 20 kb from the 3' end of the gene, respectively. Ninety-one CTEV families, comprising 476 individuals of whom 211 were affected, were genotyped. LOD scores using recessive and incomplete-dominant inheritance models, and non-parametric linkage scores, excluded linkage. Results No significant evidence for linkage was observed using either parametric or non-parametric models. LOD scores for the parametric models remained strongly negative in the regions between the markers, and in the 0.5 cM intervals outside the marker map. No significant lod scores were obtained when the data were analysed allowing for heterogeneity. Conclusion Our evidence suggests that the WNT7A gene is unlikely to be a major contributor to the aetiology of familial CTEV.

  19. Pseudodominant inheritance of goitrous congenital hypothyroidism caused by TPO mutations: molecular and in silico studies.

    Science.gov (United States)

    Deladoëy, Johnny; Pfarr, Nicole; Vuissoz, Jean-Marc; Parma, Jasmine; Vassart, Gilbert; Biesterfeld, Stefan; Pohlenz, Joachim; Van Vliet, Guy

    2008-02-01

    Most cases of goitrous congenital hypothyroidism (CH) from thyroid dyshormonogenesis 1) follow a recessive mode of inheritance and 2) are due to mutations in the thyroid peroxidase gene (TPO). We report the genetic mechanism underlying the apparently dominant inheritance of goitrous CH in a nonconsanguineous family of French Canadian origin. Two brothers identified by newborn TSH screening had severe hypothyroidism and a goiter with increased (99m)Tc uptake. The mother was euthyroid, but the father and two paternal uncles had also been diagnosed with goitrous CH. After having excluded PAX8 gene mutations, we hypothesized that the underlying defect could be TPO mutations. Both compound heterozygous siblings had inherited a mutant TPO allele carried by their mother (c.1496delC; p.Pro499Argfs2X), and from their father, one brother had inherited a missense mutation (c.1978C-->G; p.Gln660Glu) and the other an insertion (c.1955insT; p.Phe653Valfs15X). The thyroid gland of one uncle who is a compound heterozygote for TPO mutations (p.Phe653Valfs15X/p.Gln660Glu) was removed because of concurrent multiple endocrine neoplasia type 2A. Immunohistochemistry revealed normal TPO staining, implying that Gln660Glu TPO is expressed properly. Modeling of this mutant in silico suggests that its three-dimensional structure is conserved, whereas the electrostatic binding energy between the Gln660Glu TPO and its heme group becomes repulsive. We report a pedigree presenting with pseudodominant goitrous CH due to segregation of three different TPO mutations. Although goitrous CH generally follows a recessive mode of inheritance, the high frequency of TPO mutations carriers may lead to pseudodominant inheritance.

  20. Antenatal diagnosis of congenital deafness.

    Science.gov (United States)

    Isaacson, G

    1988-01-01

    Advances in the field of antenatal diagnosis have made possible the detection of profound sensorineural hearing loss prior to birth. Fetal motion in response to sound and auditory evoked potential testing can determine the presence of fetal hearing in the third trimester of pregnancy. Imaging modalities including ultrasound, computed tomography, and magnetic resonance imaging hold promise for the diagnosis of some forms of congenital deafness in the second trimester fetus. The methods by which congenital deafness soon may be diagnosed and the implications for the otologist are discussed.

  1. Detection of congenital cytomegalovirus in newborns using nucleic acid amplification techniques and its public health implications.

    Science.gov (United States)

    Liu, Guoyu; Hai, Rong; Liu, Fenyong

    2017-10-01

    Human cytomegalovirus (HCMV), a herpesvirus, is an important human pathogen that causes asymptomatic infections in healthy or immunocompetent individuals but can lead to severe and potentially life-threatening complications in immune-immature individuals such as neonates or immune-compromised patients such as organ-transplant recipients and HIV-positive individuals. Congenital HCMV infection represents a significant public health issue and poses substantial healthcare and economic burden to society. This virus causes the most common viral congenital infection worldwide, and is the leading non-genetic cause of sensorineural hearing loss in children in developed countries. Congenital HCMV infection is believed to fulfill the criteria of the American College of Medical Genetics to be considered as a condition targeted for a newborn screening program. This is because congenital HCMV infection can be identified during a time (within 2 days after birth) at which it would not ordinarily be detected clinically, and there are demonstrated benefits of early detection, timely intervention, and efficacious treatment of the condition. Recent progresses in developing polymerase chain reaction-based approaches to detect HCMV in samples obtained from newborns have generated much excitement in the field. In this review, we highlight the recent progress in diagnostic techniques that could potentially be used for the detection of HCMV infection in neonates and its direct implications in public health settings for diagnosing congenital HCMV infection.

  2. Congenital Hypothyroidism Caused by a PAX8 Gene Mutation Manifested as Sodium/Iodide Symporter Gene Defect

    Directory of Open Access Journals (Sweden)

    Wakako Jo

    2010-01-01

    Full Text Available Loss-of-function mutations of the PAX8 gene are considered to mainly cause congenital hypothyroidism (CH due to thyroid hypoplasia. However, some patients with PAX8 mutation have demonstrated a normal-sized thyroid gland. Here we report a CH patient caused by a PAX8 mutation, which manifested as iodide transport defect (ITD. Hypothyroidism was detected by neonatal screening and L-thyroxine replacement was started immediately. Although 123I scintigraphy at 5 years of age showed that the thyroid gland was in the normal position and of small size, his iodide trapping was low. The ratio of the saliva/plasma radioactive iodide was low. He did not have goiter; however laboratory findings suggested that he had partial ITD. Gene analyses showed that the sodium/iodide symporter (NIS gene was normal; instead, a mutation in the PAX8 gene causing R31H substitution was identified. The present report demonstrates that individuals with defective PAX8 can have partial ITD, and thus genetic analysis is useful for differential diagnosis.

  3. THIAMINE–RESPONSIVE MEGALOBLASTIC ANEMIA, SENSORINEURAL DEAFNESS AND DIABETES MELLITUS

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    M. Kadivar R. Moradian

    2006-11-01

    Full Text Available Abstract- The syndrome of diabetes mellitus, sensorineural deafness and megaloblastic anemia dose not result from thiamine deficiency. The previous reported patients had no sign of beriberi, had normal nutrition, and had no evidence of malabsorption. The features of this syndrome with apparent inheritance of autosomal recessive trait may define this puzzling syndrome as a true thiamine dependency state. The first Iranian patient was described by Vossough et al. in 1995. We found nine new cases with diagnostic criteria of thiamine responsive megaloblastic anemia during eight years of our study. In two patients, presentation of diabetes and anemia was concomitant. All of them were deaf with sensorineural hearing loss which was detected in infancy up to two years of age. The presence of congenital valvular heart disease was eliminated by normal echocardiography, but cardiomyopathy was discovered in two. Nonspecific amino-aciduria was discovered in three but urinary screening tests for hereditary orotic aciduria were negative. Ox-Phos biochemistry of muscle mitochondria which demonstrates severe defect in complexes I, III, IV in diabetes mellitus associated with deafness, were done but was unremarkable in our patients. Urinary methylmalonic acid and methyl malonyl carnitine by GS/MS and TMS was done in our patients and showed abnormal results in six patients. Thiamine gene, SLC 19A2, was detected in four patients.

  4. Generation of a human iPSC line from a patient with congenital glaucoma caused by mutation in CYP1B1 gene

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    Arantxa Bolinches-Amorós

    2018-04-01

    Full Text Available The human iPSC cell line, GLC-FiPS4F1 (ESi047-A, derived from dermal fibroblast from the patient with congenital glaucoma caused by the mutation of the gene CYP1B1, was generated by non-integrative reprogramming technology using OCT3/4, SOX2, CMYC and KLF4 reprogramming factors.

  5. A New PAX8 Mutation Causing Congenital Hypothyroidism in Three Generations of a Family Is Associated with Abnormalities in the Urogenital Tract

    NARCIS (Netherlands)

    Carvalho, Ana; Hermanns, Pia; Rodrigues, Ana-Luísa; Sousa, Isabel; Anselmo, João; Bikker, Hennie; Cabral, Rita; Pereira-Duarte, Carlos; Mota-Vieira, Luísa; Pohlenz, Joachim

    2013-01-01

    Background: Although thyroid dysgenesis is the most common cause of congenital hypothyroidism (CH), its molecular basis remains largely elusive. Indeed, in only a minority of cases with thyroid dysgenesis (2%-3%) was it possible to identify an underlying genetic defect. The objective of this study

  6. Congenital rubella syndrome in Iran

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    Eftekhar Hasan

    2005-06-01

    Full Text Available Abstract Background Congenital rubella syndrome (CRS can be prevented with appropriate vaccination programs. The prevalence rates of rubella and CRS in Iran are unknown; therefore, the risk of exposure in pregnant women is not clear. The prevalence of CRS in the pre-vaccine period can be estimated by evaluating the proportion of children in the population with sensorineural hearing loss attributable to rubella. Methods This was a case-control study to estimate prevalence of CRS in Tehran (Iran by evaluating the proportion of children with sensorineural hearing loss attributable to rubella. The study used rubella antibody titer as an indicator, and compared the prevalence of rubella antibody between children with and without sensorineural hearing loss. Using these findings, the proportion of cases of sensorineural hearing loss attributable to rubella was estimated. Results A total of 225 children aged 1 to 4 years were entered into the study (113 cases and 112 controls. There was a significant difference between cases and controls with regard to rubella antibody seropositivity (19.5% vs. 8.9%, respectively, odds ratio = 2.47, 95% CI = 1.04–5.97. The proportion of sensorineural hearing loss cases attributable to rubella was found to be 12%, corresponding to a CRS prevalence of 0.2/1000. Conclusion The prevalence of CRS was approximately 0.2/1000 before rubella vaccination in Iran, Moreover; the results suggest that implementation of appropriate rubella vaccination programs could potentially prevent about 12% of cases of sensorineural hearing loss in Iranian children. This data could potentially be used as baseline data, which in conjunction with an appropriate method, to establish a surveillance system for rubella vaccination in Iran. An appropriate surveillance system is needed, because the introduction of a rubella vaccine without epidemiological data and an adequate monitoring program could result in the shifting of rubella cases to higher

  7. Congenital Cytomegalovirus Infection: A Significant Cause of Deafness and Mental Deficiency.

    Science.gov (United States)

    Eichhorn, Sarah K.

    1982-01-01

    Research on cytomegalovirus (CMV), a herpes virus causing neurological damage (hearing problems and/or mental retardation) in 10 percent of infants born with the condition, is reviewed. Incidence of hearing and retardation in CMV cases is reported and current treatment described. (CL)

  8. Type I Transglutaminase Accumulation in the Endoplasmic Reticulum May Be an Underlying Cause of Autosomal Recessive Congenital Ichthyosis*

    Science.gov (United States)

    Jiang, Haibing; Jans, Ralph; Xu, Wen; Rorke, Ellen A.; Lin, Chen-Yong; Chen, Ya-Wen; Fang, Shengyun; Zhong, Yongwang; Eckert, Richard L.

    2010-01-01

    Type I transglutaminase (TG1) is an enzyme that is responsible for assembly of the keratinocyte cornified envelope. Although TG1 mutation is an underlying cause of autosomal recessive congenital ichthyosis, a debilitating skin disease, the pathogenic mechanism is not completely understood. In the present study we show that TG1 is an endoplasmic reticulum (ER) membrane-associated protein that is trafficked through the ER for ultimate delivery to the plasma membrane. Mutation severely attenuates this processing and a catalytically inactive point mutant, TG1-FLAG(C377A), accumulates in the endoplasmic reticulum and in aggresome-like structures where it is ubiquitinylated. This accumulation results from protein misfolding, as treatment with a chemical chaperone permits it to exit the endoplasmic reticulum and travel to the plasma membrane. ER accumulation is also observed for ichthyosis-associated TG1 mutants. Our findings suggest that misfolding of TG1 mutants leads to ubiquitinylation and accumulation in the ER and aggresomes, and that abnormal intracellular processing of TG1 mutants may be an underlying cause of ichthyosis. PMID:20663883

  9. Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy

    NARCIS (Netherlands)

    Zaharieva, I.T.; Thor, M.G.; Oates, E.C.; Karnebeek, C. van; Hendson, G.; Blom, E.; Witting, N.; Rasmussen, M.; Gabbett, M.T.; Ravenscroft, G.; Sframeli, M.; Suetterlin, K.; Sarkozy, A.; D'Argenzio, L.; Hartley, L.; Matthews, E.; Pitt, M.; Vissing, J.; Ballegaard, M.; Krarup, C.; Slordahl, A.; Halvorsen, H.; Ye, X.C.; Zhang, L.H.; Lokken, N.; Werlauff, U.; Abdelsayed, M.; Davis, M.R.; Feng, L.; Phadke, R.; Sewry, C.A.; Morgan, J.E.; Laing, N.G.; Vallance, H.; Ruben, P.; Hanna, M.G.; Lewis, S.; Kamsteeg, E.J.; Mannikko, R.; Muntoni, F.

    2016-01-01

    See Cannon (doi:10.1093/brain/awv400) for a scientific commentary on this article.Congenital myopathies are a clinically and genetically heterogeneous group of muscle disorders characterized by congenital or early-onset hypotonia and muscle weakness, and specific pathological features on muscle

  10. Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy

    DEFF Research Database (Denmark)

    Zaharieva, Irina T; Thor, Michael G; Oates, Emily C

    2016-01-01

    Congenital myopathies are a clinically and genetically heterogeneous group of muscle disorders characterized by congenital or early-onset hypotonia and muscle weakness, and specific pathological features on muscle biopsy. The phenotype ranges from foetal akinesia resulting in in utero or neonatal...

  11. Murine model for congenital CMV infection and hearing impairment

    Directory of Open Access Journals (Sweden)

    Tao Liu

    2011-02-01

    Full Text Available Abstract Background Congenital cytomegalovirus (CMV infection is the leading cause of sensorineural hearing loss (SNHL, and SNHL is the most frequent sequela of congenital CMV infection. But the pathogenic mechanism remains unknown, and there is no ideal CMV intrauterine infection animal model to study the mechanisms by which SNHL develops. Methods We established the congenital murine cytomegalovirus (MCMV infection model by directly injecting the virus into the placenta on day 12.5 of gestation. Then, we observed the development and the MCMV congenital infection rate of the fetuses on the day they were born. Furthermore, we detected the auditory functions, the conditions of the MCMV infection, and the histological change of the inner ears of 28-day-old and 70-day-old offspring. Results Both the fetal loss rate and the teratism rate of offspring whose placentas were inoculated with MCMV increased, and their body length, head circumference, and weight decreased. The hearing level of offspring both decreased at both 28- and 70-days post birth; the 70-day-old mice developed lower hearing levels than did the 28-day old mice. No significant inflammatory changes in the cochleae of the mice were observed. MCMV DNA signals were mainly detected in the spiral ganglion neurons and the endolymph area, but not in the perilymph area. The number of neurons decreased, and their ultrastructures changed. Moreover, with age, the number of neurons dramatically decreased, and the ultrastructural lesions of neurons became much more severe. Conclusions The results suggest that the direct injection of MCMV into the placenta may efficiently cause fetal infection and disturb the intrauterine development of the fetus, and placental inoculation itself has no obvious adverse effects on offspring. The reduction in the number of spiral ganglion neurons and the ultrastructural lesions of the neurons may be the major cause of congenital CMV infection-induced progressive SNHL.

  12. Multiple nevoid basal cell carcinoma syndrome associated with congenital orbital teratoma, caused by a PTCH1 frameshift mutation.

    Science.gov (United States)

    Rodrigues, A L; Carvalho, A; Cabral, R; Carneiro, V; Gilardi, P; Duarte, C P; Puente-Prieto, J; Santos, P; Mota-Vieira, L

    2014-07-25

    Gorlin-Goltz syndrome, or nevoid basal cell carcinoma syndrome (NBCCS), is a rare autosomal dominant disorder caused by mutations in the PTCH1 gene and shows a high level of penetrance and variable expressivity. The syndrome is characterized by developmental abnormalities or neoplasms and is diagnosed with 2 major criteria, or with 1 major and 2 minor criteria. Here, we report a new clinical manifestation associated with this syndrome in a boy affected by NBCCS who had congenital orbital teratoma at birth. Later, at the age of 15 years, he presented with 4 major and 4 minor criteria of NBCCS, including multiple basal cell carcinoma and 2 odontogenic keratocysts of the jaw, both confirmed by histology, more than 5 palmar pits, calcification of the cerebral falx, extensive meningeal calcifications, macrocephaly, hypertelorism, frontal bosses, and kyphoscoliosis. PTCH1 mutation analysis revealed the heterozygous germline mutation c.290dupA. This mutation generated a frameshift within exon 2 and an early premature stop codon (p.Asn97LysfsX43), predicting a truncated protein with complete loss of function. Identification of this mutation is useful for genetic counseling. Although the clinical symptoms are well-known, our case contributes to the understanding of phenotypic variability in NBCCS, highlighting that PTCH1 mutations cannot be used for predicting disease burden and reinforces the need of a multidisciplinary team in the diagnosis, treatment, and follow-up of NBCCS patients.

  13. Dusp16 Deficiency Causes Congenital Obstructive Hydrocephalus and Brain Overgrowth by Expansion of the Neural Progenitor Pool.

    Science.gov (United States)

    Zega, Ksenija; Jovanovic, Vukasin M; Vitic, Zagorka; Niedzielska, Magdalena; Knaapi, Laura; Jukic, Marin M; Partanen, Juha; Friedel, Roland H; Lang, Roland; Brodski, Claude

    2017-01-01

    Hydrocephalus can occur in children alone or in combination with other neurodevelopmental disorders that are often associated with brain overgrowth. Despite the severity of these disorders, the molecular and cellular mechanisms underlying these pathologies and their comorbidity are poorly understood. Here, we studied the consequences of genetically inactivating in mice dual-specificity phosphatase 16 ( Dusp16 ), which is known to negatively regulate mitogen-activated protein kinases (MAPKs) and which has never previously been implicated in brain development and disorders. Mouse mutants lacking a functional Dusp16 gene ( Dusp16 -/- ) developed fully-penetrant congenital obstructive hydrocephalus together with brain overgrowth. The midbrain aqueduct in Dusp16 -/- mutants was obstructed during mid-gestation by an expansion of neural progenitors, and during later gestational stages by neurons resulting in a blockage of cerebrospinal fluid (CSF) outflow. In contrast, the roof plate and ependymal cells developed normally. We identified a delayed cell cycle exit of neural progenitors in Dusp16 -/- mutants as a cause of progenitor overproliferation during mid-gestation. At later gestational stages, this expanded neural progenitor pool generated an increased number of neurons associated with enlarged brain volume. Taken together, we found that Dusp16 plays a critical role in neurogenesis by balancing neural progenitor cell proliferation and neural differentiation. Moreover our results suggest that a lack of functional Dusp16 could play a central role in the molecular mechanisms linking brain overgrowth and hydrocephalus.

  14. Antisense Oligonucleotide (AON-based Therapy for Leber Congenital Amaurosis Caused by a Frequent Mutation in CEP290

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    Rob WJ Collin

    2012-01-01

    Full Text Available Leber congenital amaurosis (LCA is the most severe form of inherited retinal degeneration, with an onset in the first year of life. The most frequent mutation that causes LCA, present in at least 10% of individuals with LCA from North-American and Northern-European descent, is an intronic mutation in CEP290 that results in the inclusion of an aberrant exon in the CEP290 mRNA. Here, we describe a genetic therapy approach that is based on antisense oligonucleotides (AONs, small RNA molecules that are able to redirect normal splicing of aberrantly processed pre-mRNA. Immortalized lymphoblastoid cells of individuals with LCA homozygously carrying the intronic CEP290 mutation were transfected with several AONs that target the aberrant exon that is incorporated in the mutant CEP290 mRNA. Subsequent RNA isolation and reverse transcription-PCR analysis revealed that a number of AONs were capable of almost fully redirecting normal CEP290 splicing, in a dose-dependent manner. Other AONs however, displayed no effect on CEP290 splicing at all, indicating that the rescue of aberrant CEP290 splicing shows a high degree of sequence specificity. Together, our data show that AON-based therapy is a promising therapeutic approach for CEP290-associated LCA that warrants future research in animal models to develop a cure for this blinding disease.

  15. Congenital Vitelline Band Causing Intestinal Obstruction in an Adult with a Double Inferior Vena Cava

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    Mihiri Wettasinghe

    2016-01-01

    Full Text Available Introduction. Vitelline artery remnants are rare causes of intra-abdominal bands leading to bowel obstruction. These bands may be associated with Meckel’s diverticulum. Double inferior vena cava (IVC is a rare presentation and is usually identified incidentally. Case Presentation. A sixty-year-old male presented with progressive vomiting for five days and he was clinically diagnosed with intestinal obstruction. Plain X-ray abdomen showed evidence of small bowel obstruction. CT scan of the abdomen revealed dilated small bowel loops with a small outpouching in the distal ileum with a band like structure attached to it. In the CT, left sided patent IVC draining into the left renal vein was identified. Left external iliac vein was in continuity with the left IVC. Left internal iliac vein was draining into the right IVC. Exploratory laparotomy revealed a Meckel’s diverticulum with a band identified as the vitelline remnant attached to its apex and inserting at the anterior abdominal wall near the umbilicus. Discussion. Meckel’s diverticulum with vitelline bands, although rare, should be borne in mind in adult patients with intestinal obstruction. Identification of this anomaly can be difficult in imaging studies. Presence of double IVC should be mentioned in the imaging findings to prevent possible catastrophic complications during surgery.

  16. Maternal folic acid-deficient diet causes congenital malformations in the mouse eye.

    Science.gov (United States)

    Maestro-de-las-Casas, Carmen; Pérez-Miguelsanz, Juliana; López-Gordillo, Yamila; Maldonado, Estela; Partearroyo, Teresa; Varela-Moreiras, Gregorio; Martínez-Álvarez, Concepción

    2013-09-01

    The eye is a very complex structure derived from the neural tube, surface ectoderm, and migratory mesenchyme from a neural crest origin. Because structures that evolve from the neural tube may be affected by a folate/folic acid (FA) deficiency, the aim of this work was to investigate whether a maternal folic acid-deficient diet may cause developmental alterations in the mouse eye. Female C57BL/6J mice (8 weeks old) were assigned into two different folic acid groups for periods ranging between 2 and 16 weeks. Animals were killed at gestation day 17. Hepatic folate was analyzed, and the eyes from 287 fetuses were macroscopically studied, sectioned and immunolabeled with anti-transforming growth factor (TGF)-β2 and anti-TGF-βRII. Mice exposed to a FA-deficient diet exhibited numerous eye macroscopic anomalies, such as anophthalmia and microphthalmia. Microscopically, the eye was the most affected organ (43.7% of the fetuses). The highest incidence of malformations occurred from the 8th week onward. A statistically significant linear association between the number of maternal weeks on the FA-deficient diet and embryonic microscopic eye malformations was observed. The optic cup derivatives and structures forming the eye anterior segment showed severe abnormalities. In addition, TGF-β2 and TGF-βRII expression in the eye was also altered. This study suggests that an adequate folic acid/folate status plays a key role in the formation of ocular tissues and structures, whereas a vitamin deficiency is negatively associated with a normal eye development even after a short-term exposure. Copyright © 2013 Wiley Periodicals, Inc.

  17. Ectopic adrenal rests in congenital adrenal hyperplasia as a cause of androgen excess after adrenalectomy detected by pelvic venous sampling.

    NARCIS (Netherlands)

    Claahsen-van der Grinten, H.L.; Stikkelbroeck, M.M.L.; Bulten, J.; Heyer, M. den

    2013-01-01

    BACKGROUND: Patients with classic congenital adrenal hyperplasia (CAH) due to CYP21 deficiency are treated with supraphysiological doses of glucocorticoids to suppress elevated androgen production. This implies also side effects of high-dose glucocorticoids, possibly leading to iatrogenic Cushing's

  18. A Dominant Mutation in the Gene Encoding the Erythroid Transcription Factor KLF1 Causes a Congenital Dyserythropoietic Anemia

    DEFF Research Database (Denmark)

    Arnaud, L.; Saison, C.; Helias, V.

    2010-01-01

    The congenital dyserythropoietic anemias (CDAs) are inherited red blood cell disorders whose hallmarks are ineffective erythropoiesis, hemolysis, and morphological abnormalities of erythroblasts in bone marrow We have identified a missense mutation in KLF1 of patients with a hitherto unclasified...

  19. Management of sudden sensorineural hearing loss.

    Science.gov (United States)

    Metrailer, Aaron M; Babu, Seilesh C

    2016-10-01

    Sudden sensorineural hearing loss (SNHL) is an otologic emergency and should be managed quickly and effectively. This review focuses on the management of sudden SNHL, primarily idiopathic sudden SNHL as it is the most common cause. Management options include observation, oral steroids, intratympanic steroids, or combined oral/intratympanic steroids. One-third to two-thirds of patients will achieve spontaneous recovery, most likely within the first 2 weeks. Despite the lack of randomized controlled trials on steroid therapy efficacy, all patients should be offered steroid treatment given low risk and possible significant benefits. All patients should undergo MRI with gadolinium to rule out retrocochlear disorder. Bilateral sudden hearing loss should alert the clinician to possible systemic disease. Sudden hearing loss is an otologic emergency. Appropriate counseling of patients is necessary to allow physician and patient to make a joint, educated decision. It is paramount to rule out retrocochlear disorder and to follow patients closely for improvement or need for future auditory rehabilitation.

  20. Relation between Glaucoma and Sensorineural Hearing Loss

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    A Mollasadeghi

    2008-01-01

    Full Text Available Introduction: Glaucoma is one of the leading causes of blindness throughout the world. Some studies have suggested a relationship between glaucoma and sensorineural hearing loss, while others have found no evidence of an association. We performed a study to determine whether there is a significant difference in hearing of patients with glaucoma and a match control population. Methods: In this cross-sectional study, from February, 2005 till April, 2006, 44 patients with glaucoma were studied. The age range was between 15 to 60 years. After taking a complete medical history, those suffering from presbycusis, history of exposure to ototoxic drugs and substances and history of ear surgery were excluded from the study. All of the patients were cases of open-angle glaucoma, and were surveyed separately for normal-pressure glaucoma. Then complete audiometric tests (PTA, SDS, SRT, Impedance were conducted for all of them, and the results compared with a control group. Results: There was no statistically significant difference between the case group and control group in PTA, SDS, and SRT, except for Normal Tension Glaucoma (NTG. There wasn't any statistically significant difference between two groups with respect to age, gender, and history of diseases. In the NTG group, significant difference was seen only in high frequencies. Conclusion: As mentioned, there was a statistically significant difference between NTG group and control group. It is therefore recommended to conduct complete audiometric tests and histopathologic examinations in this group for early detection of hearing loss and application of rehabilitative measures.

  1. The D173G mutation in ADAMTS-13 causes a severe form of congenital thrombotic thrombocytopenic purpura

    KAUST Repository

    Lancellotti, S.

    2015-08-13

    Congenital thrombotic thrombocytopenic purpura (TTP) is a rare form of thrombotic microangiopathy, inherited with autosomal recessive mode as a dysfunction or severe deficiency of ADAMTS-13 (A Disintegrin And Metalloprotease with ThromboSpondin 1 repeats Nr. 13), caused by mutations in the ADAMTS-13 gene. About 100 mutations of the ADAMTS-13 gene were identified so far, although only a few characterised by in vitro expression studies. A new Asp to Gly homozygous mutation at position 173 of ADAMTS-13 sequence was identified in a family of Romanian origin, with some members affected by clinical signs of TTP. In two male sons, this mutation caused a severe (< 3 %) deficiency of ADAMTS-13 activity and antigen level, associated with periodic thrombocytopenia, haemolytic anaemia and mild mental confusion. Both parents, who are cousins, showed the same mutation in heterozygous form. Expression studies of the mutant ADAMTS-13, performed in HEK293 cells, showed a severe decrease of the enzyme’s activity and secretion, although the protease was detected inside the cells. Molecular dynamics found that in the D173G mutant the interface area between the metalloprotease domain and the disintegrin-like domain significantly decreases during the simulations, while the proline-rich 20 residues linker region (LR, 285–304) between them undergoes extensive conformational changes. Inter-domain contacts are also significantly less conserved in the mutant compared to the wild-type. Both a decrease of the inter-domain contacts along with a substantial conformational rearrangement of LR interfere with the proper maturation and folding of the mutant ADAMTS-13, thus impairing its secretion.

  2. Newborn screening for congenital cytomegalovirus: Options for hospital-based and public health programs.

    Science.gov (United States)

    Grosse, Scott D; Dollard, Sheila; Ross, Danielle S; Cannon, Michael

    2009-12-01

    Congenital cytomegalovirus (CMV) infection is a leading cause of sensorineural hearing loss (SNHL) and developmental disability in children. Early identification of infected children through screening could allow for early intervention and improvement in functional outcomes among the subset who develop sequelae. To outline potential options and strategies for screening newborns for congenital CMV infection and to discuss barriers to screening and data needs to inform future policy decisions. Commentary based on the literature and expert opinion on newborn dried blood spot screening, newborn hearing screening/Early Hearing Detection and Intervention (EHDI) programs, and congenital CMV. Although no population-based screening for congenital CMV is underway, pilot newborn screening studies using a variety of assays with urine or dried blood spot specimens are underway. Challenges to screening are both practical-uncertain sensitivity of blood spot assays suitable for large-scale screening and lack of infrastructure for collection of urine specimens; and evidentiary-the need to demonstrate improved outcomes and value of screening to offset the expense and potential adverse psychosocial consequences for children and families whose children require periodic monitoring but never develop sequelae. Screening for congenital CMV infection is a potentially important intervention that merits additional research, including the logistical feasibility of different screening options and psychosocial consequences for families.

  3. Primary versus non-primary maternal cytomegalovirus infection as a cause of symptomatic congenital infection - register-based study from Finland.

    Science.gov (United States)

    Puhakka, Laura; Renko, Marjo; Helminen, Merja; Peltola, Ville; Heiskanen-Kosma, Tarja; Lappalainen, Maija; Surcel, Heljä-Marja; Lönnqvist, Tuula; Saxen, Harri

    2017-06-01

    Both primary and non-primary maternal cytomegalovirus (CMV) infection during pregnancy can lead to vertical transmission. We evaluated the proportion of maternal primary/non-primary infections among 26 babies with symptomatic congenital CMV infection born in Finland from 2000 to 2012. We executed a database search on hospital records from all five university hospitals in Finland to identify infants with congenital CMV infection. The preserved maternal serum samples drawn at the end of the first trimester were analysed for CMV antibodies. Maternal infection was classified to be non-primary, if there was high avidity CMV immunoglobulin G (IgG) in the early pregnancy samples. Infection was considered primary in the case of either low avidity IgG (primary infection in the first trimester or near conception) or absent CMV IgG at the end of the first trimester (primary infection in the second or third trimester). The majority of the symptomatic congenital CMV infections (54%) were due to maternal non-primary infection, 27% due to maternal primary infection in the first trimester or near conception, and 19% during the second or third trimester. Long-term sequelae occurred in 59% of patients: in 6/7 after primary infection in the first trimester, in 0/5 after primary infection in the second or third trimester, and in 9/14 after non-primary infection. In this register-based cohort, non-primary infections caused the majority of symptomatic congenital CMV infections, and resulted in significant morbidity.

  4. Bilateral sudden sensorineural hearing loss: review.

    Science.gov (United States)

    Sara, S A; Teh, B M; Friedland, P

    2014-01-01

    Unilateral and bilateral sudden sensorineural hearing loss represent different disease entities. The unilateral condition is more common and predominantly idiopathic, and up to 65 per cent of patients spontaneously recover hearing. Conversely, the bilateral condition is rare, mostly associated with serious systemic conditions, and has a higher prevalence of morbidity and mortality. A literature search using the PubMed database was conducted using the MeSH terms 'sudden', 'bilateral' and 'sensorineural hearing loss'. One hundred and three reported cases of bilateral sudden sensorineural hearing loss were identified. The condition is most often associated with toxic, autoimmune, neoplastic and vascular conditions. A younger age of onset, with a bimodal age distribution, was seen for bilateral sudden sensorineural hearing loss, compared with the unilateral condition. Patients with the bilateral condition had more profound hearing loss, with poorer recovery and a 35 per cent mortality rate. Vestibular symptoms were also less common than in the unilateral condition. The presentation of bilateral sudden onset sensorineural hearing loss is a medical emergency requiring thorough and urgent investigation to exclude life-threatening and reversible conditions.

  5. Congenital Deafness with Cardiac Arrhythmias: The Jervell and Lange-Nielsen Syndrome.

    Science.gov (United States)

    Wahl, Richard A.; Macdonald, Dick, II

    1980-01-01

    The Jervell and Lange-Nielsen syndrome, affecting 0.3 percent of congenitally deaf persons, consists of severe cardiac arrhythmias and sensorineural hearing loss. The authors recommend that every congenitally deaf child with suspicious symptoms receive an electrocardiogram and that professionals who work with deaf children not only inform…

  6. Progress toward Development of a Vaccine against Congenital Cytomegalovirus Infection

    Science.gov (United States)

    Permar, Sallie R.; Plotkin, Stanley A.

    2017-01-01

    ABSTRACT A vaccine against congenital human cytomegalovirus (CMV) infection is a major public health priority. Congenital CMV causes substantial long-term morbidity, particularly sensorineural hearing loss (SNHL), in newborns, and the public health impact of this infection on maternal and child health is underrecognized. Although progress toward development of a vaccine has been limited by an incomplete understanding of the correlates of protective immunity for the fetus, knowledge about some of the key components of the maternal immune response necessary for preventing transplacental transmission is accumulating. Moreover, although there have been concerns raised about observations indicating that maternal seropositivity does not fully prevent recurrent maternal CMV infections during pregnancy, it is becoming increasing clear that preconception immunity does confer some measure of protection against both CMV transmission and CMV disease (if transmission occurs) in the newborn infant. Although the immunity to CMV conferred by both infection and vaccination is imperfect, there are encouraging data emerging from clinical trials demonstrating the immunogenicity and potential efficacy of candidate CMV vaccines. In the face of the knowledge that between 20,000 and 30,000 infants are born with congenital CMV in the United States every year, there is an urgent and compelling need to accelerate the pace of vaccine trials. In this minireview, we summarize the status of CMV vaccines in clinical trials and provide a perspective on what would be required for a CMV immunization program to become incorporated into clinical practice. PMID:29046308

  7. Pluripotent stem cells are protected from cytomegalovirus infection at multiple points: implications of a new pathogenesis for congenital anomaly caused by cytomegalovirus.

    Science.gov (United States)

    Kawasaki, Hideya

    2012-09-01

    In humans, the cytomegalovirus (CMV) is the most significant cause of intrauterine infections that cause congenital anomalies. Intrauterine infection with human CMV is thought to be responsible for a variety of abnormalities, including mental retardation, microcephaly, developmental delay, seizure disorders, and cerebral palsy, depending on the timing of the fetal infection, the infectious route, and the virulence of the virus. In addition to the adaptive immune system, the embryo has potential resistance to CMV during early embryogenesis. Embryonic stem (ES) cells are more resistant to CMV than most other cell types, although the mechanism responsible for this resistance is not well understood. ES cells allow approximately 20-fold less murine CMV (MCMV) DNA to enter the nucleus than mouse embryonic fibroblasts (MEFs), and this inhibition occurs in a multistep manner. In situ hybridization showed that ES cell nuclei had significantly less MCMV DNA than MEF nuclei. This finding appears to be supported by the fact that ES cells express less heparan sulfate, β1-integrin, and vimentin and have fewer nuclear pores than differentiated cells such as MEF. This may reduce the ability of MCMV to attach to and enter the cellular membrane, translocate to the nucleus, and cross the nuclear membrane in pluripotent stem cells (ES-induced pluripotent stem cells). This finding may indicate a new pathogenesis for the congenital anomaly caused by CMV. © 2012 The Author. Congenital Anomalies © 2012 Japanese Teratology Society.

  8. [Congenital aniridia].

    Science.gov (United States)

    Chiruţa, Daria; Stan, Cristina

    2014-01-01

    Aniridia is a rare congenital, hereditary, bilateral disease which is associated with various systemic and ocular defects. We present the case of a 61 year old patient who was admitted in the hospital of ophthalmology Cluj Napoca, for the symptoms caused by the ocular defects associated with aniridia. In this case, aniridia is autosomal dominant transmitted with incomplete penetrance and it is not accompanied by any systemic defects. The disease also affects three of her sons and two nephews of the patient.

  9. Sensorineural hearing loss and acute vestibulopathy in HELLP syndrome: A case report

    Directory of Open Access Journals (Sweden)

    Edwin Halliday

    2017-03-01

    Full Text Available HELLP syndrome is a complication of pregnancy characterised by haemolysis (H, elevated liver enzymes (EL and low platelets (LP. Patients present with non-specific symptoms; delivery of the baby is the only treatment. We present the case of a woman who developed sudden sensorineural hearing loss during her HELLP syndrome episode. Poorly perfused placental tissue may release factors into the systemic circulation causing endothelial cell injury and a dysfunctional cascade of coagulation, vasoconstriction and intravascular fluid redistribution. There may be subsequent damage to the endothelium of the vasa nervorum of the vestibulocochlear nerve, resulting in sensorineural hearing loss and acute vestibulopathy.

  10. Congenital bovine spinal dysmyelination is caused by a missense mutation in the SPAST gene

    DEFF Research Database (Denmark)

    Thomsen, Bo; Nissen, Peter H.; Agerholm, Jørgen S

    2010-01-01

     Bovine spinal dysmyelination (BSD) is a recessive congenital neurodegenerative disease in cattle (Bos taurus) characterized by pathological changes of the myelin sheaths in the spinal cord. The occurrence of BSD is a longstanding problem in the American Brown Swiss (ABS) breed and in several...

  11. [Congenital long QT-syndrome: the cause of recurrent syncope and sudden death at a young age

    NARCIS (Netherlands)

    Akkerhuis, J.M.; Baars, H.F.; Marcelis, C.L.M.; Akkerhuis, K.M.; Wilde, A.A.M.

    2007-01-01

    Congenital long QT-syndrome (LQTS) was diagnosed in three patients. The first patient, a 10-year-old girl, presented with recurrent episodes of syncope during swimming and was diagnosed with type 1 LQTS. The second patient, a 36-year-old asymptomatic man, was accidentally diagnosed with type 2 LQTS.

  12. Congenital hearing loss. Is CT enough? | Agha | Alexandria Journal ...

    African Journals Online (AJOL)

    Patients and methods: This is a prospective study including 60 patients, 24 males and 36 females aged from 1 to 7 years, who were presented by unilateral or bilateral congenital conductive (CHL) or/and sensorineural hearing loss (SNHL). All patients were evaluated by HRCT scan with post-processing multiplanar ...

  13. Sudden (reversible) sensorineural hearing loss in pregnancy.

    LENUS (Irish Health Repository)

    Kenny, R

    2011-03-01

    Sudden hearing loss directly associated with pregnancy or birth is a little known and rare occurrence. The temporary, unilateral, low-frequency sensorineural hearing loss in this case was reported after the birth of the patient\\'s first child, and again during the third trimester of her second pregnancy.

  14. Progression of low-frequency sensorineural hearing loss (DFNA6/14-WFS1).

    NARCIS (Netherlands)

    Pennings, R.J.E.; Bom, S.J.H.; Cryns, K.; Flothmann, K.; Huygen, P.L.M.; Kremer, J.M.J.; Camp, G. van; Cremers, C.W.R.J.

    2003-01-01

    OBJECTIVE: To assess the audiometric profile and speech recognition characteristics in affected members of 2 families with DFNA6/14 harboring heterozygous mutations in the WFS1 gene that cause an autosomal dominant nonsyndromic sensorineural hearing impairment trait. DESIGN: Family study. SETTING:

  15. [Subclinical sensorineural hearing loss in female patients with rheumatoid arthritis].

    Science.gov (United States)

    Treviño-González, José Luis; Villegas-González, Mario Jesús; Muñoz-Maldonado, Gerardo Enrique; Montero-Cantu, Carlos Alberto; Nava-Zavala, Arnulfo Hernán; Garza-Elizondo, Mario Alberto

    2015-01-01

    The rheumatoid arthritis is a clinical entity capable to cause hearing impairment that can be diagnosed promptly with high frequencies audiometry. To detect subclinical sensorineural hearing loss in patients with rheumatoid arthritis. Cross-sectional study on patients with rheumatoid arthritis performing high frequency audiometry 125Hz to 16,000Hz and tympanometry. The results were correlated with markers of disease activity and response to therapy. High frequency audiometry was performed in 117 female patients aged from 19 to 65 years. Sensorineural hearing loss was observed at a sensitivity of pure tones from 125 to 8,000 Hz in 43.59%, a tone threshold of 10,000 to 16,000Hz in 94.02% patients in the right ear and in 95.73% in the left ear. Hearing was normal in 8 (6.84%) patients. Hearing loss was observed in 109 (93.16%), and was asymmetric in 36 (30.77%), symmetric in 73 (62.37%), bilateral in 107 (91.45%), unilateral in 2 (1.71%), and no conduction and/or mixed hearing loss was encountered. Eight (6.83%) patients presented vertigo, 24 (20.51%) tinnitus. Tympanogram type A presented in 88.90% in the right ear and 91.46% in the left ear, with 5.98 to 10.25% type As. Stapedius reflex was present in 75.3 to 85.2%. Speech discrimination in the left ear was significantly different (p = 0.02)in the group older than 50 years. No association was found regarding markers of disease activity, but there was an association with the onset of rheumatoid arthritis disease. Patients with rheumatoid arthritis had a high prevalence of sensorineural hearing loss for high and very high frequencies. Copyright © 2015 Academia Mexicana de Cirugía A.C. Published by Masson Doyma México S.A. All rights reserved.

  16. Sensorineural hearing loss in insulin-dependent diabetic patients

    Directory of Open Access Journals (Sweden)

    Koosha A.

    2007-11-01

    Full Text Available Background: Among patients who have sensorineural hearing loss of unknown etiology, diabetes is one of the diseases to be routinely investigated. The relationship between diabetes mellitus and hearing loss is still controversial. The purpose of this study was to examine the prevalence of sensorineural hearing loss in patients with insulin-dependent diabetes mellitus (IDDM compared to control group.Methods: In a cross-sectional study pure tone audiometry (PTA and speech audiometry was performed in 62 patients with insulin-dependent diabetes mellitus (IDDM, aged under 40 years, and in 62 randomly selected age-matched non-diabetic control subjects. Subjects with otological and other metabolic diseases were excluded from the study. We applied the SPSS.10 statistical analysis software Chi-square and student's test. Results: Statistical analysis showed that the hearing of the diabetic patients were significantly worsen than the control subjects. The hearing level tended to be worsen in the diabetic patients than that in control subjects, but the differences were statistically significant only at frequencies of 250,500, 4000 and 8000 Hz p>0.05(. There wasn't statistical significant difference between sex in two study groups p>0.05(. The mean duration of diabetes was no statistically significant with hearing loss p>0.05(. The frequency of complications such as retinopathy, nephropathy, and neuropathy in the diabetic groups had no correlation with speech threshold (p>0.05(.‏ There were no significant differences between speech reception threshold, speech discrimination score and acoustic reflex in two groups.Conclusions: We conclude that type I diabetes mellitus can cause sensorineural hearing loss.

  17. [Congenital hydrocephalus].

    Science.gov (United States)

    Malagón-Valdez, J

    2006-04-10

    Congenital hydrocephalus or ventriculomegaly is a disorder that now can be diagnosed in uterus with ultrasonography, this gives the chance of being able to give a treatment the earliest as possible. The clinical manifestations are reviewed, the diagnosis, the frequent treatment and causes of congenital hydrocephalus, being the first agenesis of the Sylvius' aqueduct, followed by Arnold-Chiari's malformations with mielomeningocele. In most of the cases the peritoneal-ventricle shunt is the best surgery treatment and now, the treatment with ventriculostomy of third ventricle by endoscopy has fewer complications apparently and in several cases it is the definitive treatment. The evolution of the diagnosis with the support of specific therapies is effective and the early treatment is good, of course taking into account the etiology.

  18. Cytomegalovirus Congenital Cataract

    Directory of Open Access Journals (Sweden)

    Ridha Wahyutomo

    2011-06-01

    Full Text Available Cytomegalovirus congenital infection is an infection caused by the the subfamily â Herpesviridae, during pregnancy. The incidence of infections among newborn infants is 1 %. One of the effects of congenitally acquired infection is the congenital cataract. A 6-year-old child complained to have a blurred vision diagnosed with cytomegalovirus congenital cataract. The diagnosis was confirmed by a positive serology testing for Ig M and Ig G CMV. The laboratory test using Giemsa staining to find inclusion bodies and a faster PCR could not be carried out (Sains Medika, 3(1:84-88.

  19. Congenital cytomegalovirus infection in pregnancy and the neonate: consensus recommendations for prevention, diagnosis, and therapy.

    Science.gov (United States)

    Rawlinson, William D; Boppana, Suresh B; Fowler, Karen B; Kimberlin, David W; Lazzarotto, Tiziana; Alain, Sophie; Daly, Kate; Doutré, Sara; Gibson, Laura; Giles, Michelle L; Greenlee, Janelle; Hamilton, Stuart T; Harrison, Gail J; Hui, Lisa; Jones, Cheryl A; Palasanthiran, Pamela; Schleiss, Mark R; Shand, Antonia W; van Zuylen, Wendy J

    2017-06-01

    Congenital cytomegalovirus is the most frequent, yet under-recognised, infectious cause of newborn malformation in developed countries. Despite its clinical and public health importance, questions remain regarding the best diagnostic methods for identifying maternal and neonatal infection, and regarding optimal prevention and therapeutic strategies for infected mothers and neonates. The absence of guidelines impairs global efforts to decrease the effect of congenital cytomegalovirus. Data in the literature suggest that congenital cytomegalovirus infection remains a research priority, but data are yet to be translated into clinical practice. An informal International Congenital Cytomegalovirus Recommendations Group was convened in 2015 to address these questions and to provide recommendations for prevention, diagnosis, and treatment. On the basis of consensus discussions and a review of the literature, we do not support universal screening of mothers and the routine use of cytomegalovirus immunoglobulin for prophylaxis or treatment of infected mothers. However, treatment guidelines for infected neonates were recommended. Consideration must be given to universal neonatal screening for cytomegalovirus to facilitate early detection and intervention for sensorineural hearing loss and developmental delay, where appropriate. The group agreed that education and prevention strategies for mothers were beneficial, and that recommendations will need continual updating as further data become available. Copyright © 2017 Elsevier Ltd. All rights reserved.

  20. Early motor development of children with a congenital cytomegalovirus infection.

    Science.gov (United States)

    De Kegel, Alexandra; Maes, Leen; Dhooge, Ingeborg; van Hoecke, Helen; De Leenheer, Els; Van Waelvelde, Hilde

    2016-01-01

    Congenital cytomegalovirus (cCMV) infection is the most important etiology of non-hereditary childhood hearing loss and an important cause of neurodevelopmental delay. The current study aimed to investigate the early motor development of symptomatic and asymptomatic cCMV infected children with and without sensorineural hearing loss (SNHL). Sixty-four children with a cCMV infection, without cerebral palsy, were compared to a control group of 107 normal hearing children. They were assessed around the ages of 6, 12, and 24 months with the Peabody Developmental Motor Scales-2 (PDMS-2), Alberta Infant Motor Scales (AIMS), and Ghent Developmental Balance Test (GDBT). The cCMV infected children were subdivided into a symptomatic (n=26) and asymptomatic cCMV group (n=38) but also into a cCMV group with SNHL (n=19) and without SNHL (n=45). Symptomatic cCMV infected children and cCMV infected children with SNHL performed significantly weaker for all gross motor outcome measures. A congenital CMV infection is a risk factor for a delay in the early motor development. Follow-up will be necessary to gain insight into the exact cause of this motor delay and to define the predictive value of early motor assessment of cCMV infected children. Copyright © 2015 Elsevier Ltd. All rights reserved.

  1. Isolated Sensorineural Hearing Loss as a Sequela after Lightning Strike

    Directory of Open Access Journals (Sweden)

    Mahfuz Turan

    2015-01-01

    Full Text Available In most of the surviving patients after a lightning strike, audiovestibular abnormalities have been reported. The most frequently reported type of abnormalities is a tympanic membrane perforation with hearing loss and external ear canal burn. However a sensor neural hearing loss and mixed type hearing loss can also occur, but these occur rarely. A nineteen-year-old female patient had, after a lightning strike, serious burns on the left ear, behind the ear, and on the chest and neck. She also had in her left ear 108 dB hearing loss with irregular central perforation and in her right ear 52 dB sensorineural hearing loss. There was no hearing loss before the strike. A hearing aid was recommended for the right ear and good care and follow-up were recommended for the left ear. A lightning strike can cause serious audiological damage. Therefore, it is necessary to make a careful audiovestibular evaluation of the patients. Although there exist rarely healed cases from sensorineural hearing loss after lightning strike in literature, in our case hearing loss occurred bilaterally and then it healed unilaterally. This condition is quite rare in literature.

  2. Acute unilateral sensorineural hearing loss associated with anabolic steroids and polycythaemia: case report.

    Science.gov (United States)

    Tikka, T; Mistry, N; Janjua, A

    2016-03-01

    Unilateral sudden sensorineural hearing loss due to an infarct in the vertebrobasilar system has been widely reported. Most patients have a background of traditional coronary risk factors related to these cerebrovascular episodes. A 32-year-old male, a regular user of anabolic steroids, presented to the emergency department with unilateral sensorineural hearing loss and symptoms suggestive of an infarct of the anterior inferior cerebellar artery but in the absence of risk factors for ischaemic stroke. Magnetic resonance imaging confirmed the presence of infarction in the region supplied by the anterior inferior cerebellar artery. Polycythaemia was found on haematological analysis, which we believe was secondary to the use of anabolic steroids. The patient was commenced on aspirin as per the stroke management protocol. There was resolution of neurological symptomatology six weeks after the episode, but no improvement in hearing. To our knowledge, this is the first case report of unilateral sensorineural hearing loss secondary to the use of anabolic steroids causing polycythaemia. This cause should be considered in the differential diagnosis of patients presenting with sensorineural hearing loss, especially in young males, when no other risk factors can be identified.

  3. Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN).

    Science.gov (United States)

    Wambach, Jennifer A; Stettner, Georg M; Haack, Tobias B; Writzl, Karin; Škofljanec, Andreja; Maver, Aleš; Munell, Francina; Ossowski, Stephan; Bosio, Mattia; Wegner, Daniel J; Shinawi, Marwan; Baldridge, Dustin; Alhaddad, Bader; Strom, Tim M; Grange, Dorothy K; Wilichowski, Ekkehard; Troxell, Robin; Collins, James; Warner, Barbara B; Schmidt, Robert E; Pestronk, Alan; Cole, F Sessions; Steinfeld, Robert

    2017-11-01

    Biallelic GLDN mutations have recently been identified among infants with lethal congenital contracture syndrome 11 (LCCS11). GLDN encodes gliomedin, a protein required for the formation of the nodes of Ranvier and development of the human peripheral nervous system. We report six infants and children from four unrelated families with biallelic GLDN mutations, four of whom survived beyond the neonatal period into infancy, childhood, and late adolescence with intensive care and chronic respiratory and nutritional support. Our findings expand the genotypic and phenotypic spectrum of LCCS11 and demonstrate that the condition may not necessarily be lethal in the neonatal period. © 2017 Wiley Periodicals, Inc.

  4. Gd enhanced MRI in sensorineural hearing loss

    Energy Technology Data Exchange (ETDEWEB)

    Takenaka, Mika; Tono, Tetsuya; Toyama, Katsuhiro; Kano, Kiyo; Morimitsu, Tamotsu [Miyazaki Medical Coll., Kiyotake (Japan)

    1996-09-01

    The enhanced MRI hearing findings of the inner ear in 124 patients with sensorineural hearing loss were evaluated. MR images were obtained before and after the intravenous administration of gadolinium (0.1 mmol/kg). In three out of seventy-nine patients with unilateral healing loss, cochlear and/or the vestibular enhancement was noted on the symptomatic side. The positive cases included those with Ramsay-Hunt syndrome, mumps and so-called sudden deafness. Forty-five patients with bilateral hearing loss showed no enhancement within the inner ear. Although positive gadolinium enhancement of the inner ear may detect inflammatory lesions due to a viral infection, its incidence in sensorineural hearing loss, including cases of sudden deafness. seems to be extremely rare. (author)

  5. Sudden Sensorineural Hearing Loss; Prognostic Factors

    OpenAIRE

    Arjun, Dass; Neha, Goel; Surinder K, Singhal; Ravi, Kapoor

    2015-01-01

    Introduction: Sudden sensorineural hearing loss (SSNHL) is a frightening and frustrating symptom for the patient as well as the physician. Prognosis is affected by multiple factors including duration of hearing loss, presence of associated vertigo and tinnitus, and co-morbidities such as hypertension and diabetes.   Materials and Methods: Forty subjects presenting to our department with features of sudden hearing loss were included in the study. Detailed otological history and examination, se...

  6. Complex Treatment of Sensorineural Hearing Loss

    OpenAIRE

    Aleksandruk, N. V.

    2014-01-01

    Recent data on use of Ginkgo Biloba extract in otorhinolaryngological practice were presented. The mechanism of the curative action of Ginkgo Biloba extract (vasoprotective, antioxidative, rheological, and edematous) was described. Effectiveness of Ginkgo Biloba as a part of complex treatment of sensorineural hearing loss in children was elucidated. Results of the research proved effectiveness of treatment with Ginkgo Biloba and showed perspectives of Ginkgo Biloba use in treatment programs f...

  7. Sensorineural hearing loss after magnetic resonance imaging

    DEFF Research Database (Denmark)

    Mollasadeghi, Abolfazl; Mehrparvar, Amir Houshang; Atighechi, Saeid

    2013-01-01

    Magnetic resonance imaging (MRI) devices produce noise, which may affect patient's or operators' hearing. Some cases of hearing impairment after MRI procedure have been reported with different patterns (temporary or permanent, unilateral or bilateral, with or without other symptoms like tinnitus......). In this report, a case of bilateral sensorineural hearing loss in an otherwise healthy patient underwent brain MRI was described. The patient's hearing loss was accompanied with tinnitus and was not improved after 3 months of followup....

  8. Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis.

    Science.gov (United States)

    Hermanns, Pia; Unger, Sheila; Rossi, Antonio; Perez-Aytes, Antonio; Cortina, Hector; Bonafé, Luisa; Boccone, Loredana; Setzu, Valeria; Dutoit, Michel; Sangiorgi, Luca; Pecora, Fabio; Reicherter, Kerstin; Nishimura, Gen; Spranger, Jürgen; Zabel, Bernhard; Superti-Furga, Andrea

    2008-06-01

    Deficiency of carbohydrate sulfotransferase 3 (CHST3; also known as chondroitin-6-sulfotransferase) has been reported in a single kindred so far and in association with a phenotype of severe chondrodysplasia with progressive spinal involvement. We report eight CHST3 mutations in six unrelated individuals who presented at birth with congenital joint dislocations. These patients had been given a diagnosis of either Larsen syndrome (three individuals) or humero-spinal dysostosis (three individuals), and their clinical features included congenital dislocation of the knees, elbow joint dysplasia with subluxation and limited extension, hip dysplasia or dislocation, clubfoot, short stature, and kyphoscoliosis developing in late childhood. Analysis of chondroitin sulfate proteoglycans in dermal fibroblasts showed markedly decreased 6-O-sulfation but enhanced 4-O-sulfation, confirming functional impairment of CHST3 and distinguishing them from diastrophic dysplasia sulphate transporter (DTDST)-deficient cells. These observations provide a molecular basis for recessive Larsen syndrome and indicate that recessive Larsen syndrome, humero-spinal dysostosis, and spondyloepiphyseal dysplasia Omani type form a phenotypic spectrum.

  9. Genetics Home Reference: congenital leptin deficiency

    Science.gov (United States)

    ... Description Congenital leptin deficiency is a condition that causes severe obesity beginning in the first few months of life. ... are unknown. Congenital leptin deficiency is a rare cause of obesity. Researchers are studying the factors involved in more ...

  10. Lyme disease associated with sudden sensorineural hearing loss: case report and literature review.

    Science.gov (United States)

    Peeters, Natalie; van der Kolk, Brigitta Y M; Thijsen, Steven F T; Colnot, David R

    2013-07-01

    Is sudden sensorineural hearing loss associated with Lyme disease in adults? A retrospective case report and a systematic literature search in PubMed and Embase were performed. We describe a patient presenting with sudden sensorineural hearing loss, followed by a facial paralysis, which could be attributed to Lyme disease confirmed by positive serology and a positive immunoblot. She was successfully treated with ceftriaxone, with recovery of the facial paralysis, although no recovery of the hearing loss was observed. A systematic literature search resulted in 4 relevant and valid articles revealing that confirmed positive serology for Borrelia burgdorferi varies from 0% to 21.3%, suggesting active Lyme disease as a cause in patients with sudden sensorineural hearing loss. Two studies demonstrated a significantly higher incidence of confirmed positive serology for Borrelia burgdorferi as compared with the incidence in the general local population. Literature suggests that sudden sensorineural hearing loss may coincide with Borrelia burgdorferi infection. A higher incidence of confirmed positive serology for Borrelia burgdorferi in patients with sudden deafness seems to be depending on the country and on the tests used to confirm Lyme disease. This should be taken into account if serologic testing for Lyme disease in patients with sudden deafness is considered.

  11. A Mutation in LIPN, Encoding Epidermal Lipase N, Causes a Late-Onset Form of Autosomal-Recessive Congenital Ichthyosis

    Science.gov (United States)

    Israeli, Shirli; Khamaysi, Ziyad; Fuchs-Telem, Dana; Nousbeck, Janna; Bergman, Reuven; Sarig, Ofer; Sprecher, Eli

    2011-01-01

    Autosomal-recessive congenital ichthyoses represent a large and heterogeneous group of disorders of epidermal cornification. Recent data suggest that most of these disorders might result from defective lipid transport and metabolism. In the present study, we describe a late-onset form of recessive ichthyosis in a large consanguineous pedigree. By using a combination of homozygosity mapping and positional candidate-gene screening, we identified a 2 bp deletion in LIPN that segregated with the disease phenotype throughout the family. LIPN encodes one of six acid lipases known to be involved in triglyceride metabolism in mammals . LIPN was found to be exclusively expressed in the epidermis and to be strongly induced during keratinocyte differentiation. PMID:21439540

  12. The congenital cranial dysinnervation disorders.

    Science.gov (United States)

    Gutowski, N J; Chilton, J K

    2015-07-01

    Congenital cranial dysinnervation disorders (CCDD) encompass a number of related conditions and includes Duane syndrome, congenital fibrosis of the external ocular muscles, Möbius syndrome, congenital ptosis and hereditary congenital facial paresis. These are congenital disorders where the primary findings are non-progressive and are caused by developmental abnormalities of cranial nerves/nuclei with primary or secondary dysinnervation. Several CCDD genes have been found, which enhance our understanding of the mechanisms involved in brain stem development and axonal guidance. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  13. Sudden Bilateral Sensorineural Hearing Loss Secondary to Cerebral Venous Thrombosis

    Directory of Open Access Journals (Sweden)

    Muhammad-Nu’aim Ishak

    2018-03-01

    Full Text Available Introduction: Sudden sensorineural hearing loss (SSNHL is an important otological emergency. Up to 90% of the cases are idiopathic. Cerebral venous thrombosis (CVT is an extremely rare identifiable cause as it only represents 0.5% of all strokes.   Case Report: In this paper, an unusual case of bilateral SSNHL secondary to bilateral CVT with rapid and complete recovery is reported. The patient presented with sudden bilateral hearing loss associated with some neurological symptoms. Initial computed tomography (CT venography revealed a CVT of bilateral transverse sinuses. The patient was started on an anticoagulant and imaging was repeated after five days, revealing the absence of the thrombosis. Serial pure tone audiometry (PTA showed complete recovery of bilateral hearing within 10 days.   Conclusion: Early detection and intervention may fasten hearing recovery and improve the quality of life. The immediate restoration of venous blood flow and intracranial pressure may lead to the complete recovery of bilateral hearing loss.

  14. A Homozygous TPO Gene Duplication (c.1184_1187dup4) Causes Congenital Hypothyroidism in Three Siblings Born to a Consanguineous Family.

    Science.gov (United States)

    Cangul, Hakan; Aydin, Banu K; Bas, Firdevs

    2015-12-01

    Congenital hypothyroidism (CH) is the most common neonatal endocrine disease, and germ-line mutations in the TPO gene cause the inherited form of the disease. Our aim in this study was to determine the genetic basis of congenital hypothyroidism in three affected children coming from a consanguineous Turkish family. Because CH is usually inherited in autosomal recessive manner in consanguineous/multicase families, we adopted a two-stage strategy of genetic linkage studies and targeted sequencing of the candidate genes. First, we investigated the potential genetic linkage of the family to any known CH locus, using microsatellite markers, and then screened for mutations in linked-gene by conventional sequencing. The family showed potential linkage to the TPO gene and we detected a homozygous duplication (c.1184_1187dup4) in all cases. The mutation segregated with disease status in the family. This study confirms the pathogenicity of the c.1184_1187dup4 mutation in the TPO gene and helps establish a genotype/phenotype correlation associated with this mutation. It also highlights the importance of molecular genetic studies in the definitive diagnosis and accurate classification of CH.

  15. Congenital toxoplasmosis

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/article/001360.htm Congenital toxoplasmosis To use the sharing features on this page, please enable JavaScript. Congenital toxoplasmosis is a group of symptoms that occur when ...

  16. Congenital Hypothyroidism

    Science.gov (United States)

    ... Disease Featured Resource Find an Endocrinologist Search Congenital Hypothyroidism March 2012 Download PDFs English Espanol Editors Rosalind S. ... Resources MedlinePlus (NIH) Mayo Clinic What is congenital hypothyroidism? Newborn babies who are unable to make enough ...

  17. Dose passive smoking induce sensorineural hearing loss in children?

    Science.gov (United States)

    Talaat, Hossam Sanyelbhaa; Metwaly, Mohamed Akram; Khafagy, Ahmed Hafez; Abdelraouf, Hatem Ragaa

    2014-01-01

    Smoking plays major role in development of vascular and respiratory serious diseases. It has been reported that negative smoker children are prone for conductive hearing impairment due to repeated attacks of Eustachian tube dysfunction and middle ear effusion. This study aims to identify negative smoking as potential risk factor for development of sensorineural hearing loss. This study was done between January 2010 and November 2012. 411 children aged 5-11 years (8.2 ± 1.5) participated in this study; they were children attending the Ear, Nose, and Throat clinic of a tertiary care hospital and their siblings. The inclusion criteria were: (i) normal speech and language, (ii) absence of any disease or condition that may cause sensorineural hearing loss, and (iii) normal middle ear function on the day of hearing assessment. They were divided into three groups according to the exposure to second-hand smoke at home; group of "no exposure" whereas no smoker in the family (131 children), group of 'mild exposure" whereas the father was the only smoking parent and smoking was prohibited at home (155 children), and group of "heavy exposure", whereas the mother was smoking, or the father was freely smoking at home and in the presence of his children (125 children). Audiological evaluation in the form of pure tone and speech audiometry and immitancemetry was done for the study group. Audiological evaluation revealed that the prevalence of hearing loss was 3.8%, 4.5% and 12% in the "no exposure", "mild exposure", and "heavy exposure" groups, respectively. Significant difference was only detected between the high exposure group and the other two groups. All children had minimal sensorineural hearing loss, i.e. threshold of frequencies showing hearing loss was 20 or 25 dB HL. The risk ratios (95% confidence interval) for hearing loss in the study subgroups were 1.18 (0.38, 3.64) for mild exposure group (p>0.05), 3.14 (1.18, 8.3) for heavy exposure group (phearing loss, and it is

  18. Sensorineural Hearing Loss after Magnetic Resonance Imaging

    Directory of Open Access Journals (Sweden)

    Abolfazl Mollasadeghi

    2013-01-01

    Full Text Available Magnetic resonance imaging (MRI devices produce noise, which may affect patient’s or operators’ hearing. Some cases of hearing impairment after MRI procedure have been reported with different patterns (temporary or permanent, unilateral or bilateral, with or without other symptoms like tinnitus. In this report, a case of bilateral sensorineural hearing loss in an otherwise healthy patient underwent brain MRI was described. The patient’s hearing loss was accompanied with tinnitus and was not improved after 3 months of followup.

  19. Congenital hydrocephalus in clinical practice : A genetic diagnostic approach

    NARCIS (Netherlands)

    Verhagen, J. M. A.; Schrander-Stumpel, C. T. R. M.; Krapels, P. C.; de Die-Smulders, C. E. M.; van Lint, F. H. M.; Willekes, C.; Weber, J. W.; Gavilanes, A. W. D.; Macville, M. V. E.; Stegmann, A. P. A.; Engelen, J. J. M.; Bakker, J.; Vos, Y. J.; Frints, S. G. M.

    2011-01-01

    Congenital hydrocephalus is a common and often disabling disorder. The etiology is very heterogeneous. Little is known about the genetic causes of congenital hydrocephalus. A retrospective survey was performed including patients with primary congenital hydrocephalus referred to the Department of

  20. A honey bee can threat ear: Sudden sensorineural hearing loss.

    Science.gov (United States)

    Düzenli, Ufuk; Bozan, Nazım; Ayral, Abdurrahman; Yalınkılıç, Abdülaziz; Kıroğlu, Ahmet Faruk

    2017-11-01

    Sudden sensorineural hearing loss is an otologic emergency. Many etiological factors can lead to this pathology. Honey bee (Apis mellifera) sting may lead to local and systemic reactions due to sensitization of the patient. In this paper we described a sudden sensorineural hearing loss occurred after honey bee sting. Copyright © 2017 Elsevier Inc. All rights reserved.

  1. Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype.

    Science.gov (United States)

    Liang, Wen-Chen; Zhu, Wenhua; Mitsuhashi, Satomi; Noguchi, Satoru; Sacher, Michael; Ogawa, Megumu; Shih, Hsiang-Hung; Jong, Yuh-Jyh; Nishino, Ichizo

    2015-01-01

    Transport protein particle (TRAPP) is a multiprotein complex involved in endoplasmic reticulum-to-Golgi trafficking. Zebrafish with a mutation in the TRAPPC11 orthologue showed hepatomegaly with steatosis and defects in visual system development. In humans, TRAPPC11 mutations have been reported in only three families showing limb-girdle muscular dystrophy (LGMD) or myopathy with movement disorders and intellectual disability. We screened muscular dystrophy genes using next-generation sequencing and performed associated molecular and biochemical analyses in a patient with fatty liver and cataract in addition to infantile-onset muscle weakness. We identified the first Asian patient with TRAPPC11 mutations. Muscle pathology demonstrated typical dystrophic changes and liver biopsy revealed steatosis. The patient carried compound heterozygous mutations of a previously reported missense and a novel splice-site mutation. The splice-site change produced two aberrantly-spliced transcripts that were both predicted to result in translational frameshift and truncated proteins. Full-length TRAPPC11 protein was undetectable on immunoblotting. This report widens the phenotype of TRAPPC11-opathy as the patient showed the following: (1) congenital muscular dystrophy phenotype rather than LGMD; (2) steatosis and infantile-onset cataract, both not observed in previously reported patients; but (3) no ataxia or abnormal movement, clearly indicating that TRAPPC11 plays a physiological role in multiple tissues in human.

  2. A Novel Lamin A Mutant Responsible for Congenital Muscular Dystrophy Causes Distinct Abnormalities of the Cell Nucleus.

    Science.gov (United States)

    Barateau, Alice; Vadrot, Nathalie; Vicart, Patrick; Ferreiro, Ana; Mayer, Michèle; Héron, Delphine; Vigouroux, Corinne; Buendia, Brigitte

    2017-01-01

    A-type lamins, the intermediate filament proteins participating in nuclear structure and function, are encoded by LMNA. LMNA mutations can lead to laminopathies such as lipodystrophies, premature aging syndromes (progeria) and muscular dystrophies. Here, we identified a novel heterozygous LMNA p.R388P de novo mutation in a patient with a non-previously described severe phenotype comprising congenital muscular dystrophy (L-CMD) and lipodystrophy. In culture, the patient's skin fibroblasts entered prematurely into senescence, and some nuclei showed a lamina honeycomb pattern. C2C12 myoblasts were transfected with a construct carrying the patient's mutation; R388P-lamin A (LA) predominantly accumulated within the nucleoplasm and was depleted at the nuclear periphery, altering the anchorage of the inner nuclear membrane protein emerin and the nucleoplasmic protein LAP2-alpha. The mutant LA triggered a frequent and severe nuclear dysmorphy that occurred independently of prelamin A processing, as well as increased histone H3K9 acetylation. Nuclear dysmorphy was not significantly improved when transfected cells were treated with drugs disrupting microtubules or actin filaments or modifying the global histone acetylation pattern. Therefore, releasing any force exerted at the nuclear envelope by the cytoskeleton or chromatin did not rescue nuclear shape, in contrast to what was previously shown in Hutchinson-Gilford progeria due to other LMNA mutations. Our results point to the specific cytotoxic effect of the R388P-lamin A mutant, which is clinically related to a rare and severe multisystemic laminopathy phenotype.

  3. Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations

    Science.gov (United States)

    Wang, Xia; Charng, Wu-Lin; Chen, Chun-An; Rosenfeld, Jill A.; Shamsi, Aisha Al; Al-Gazali, Lihadh; McGuire, Marianne; Mew, Nicholas Ah; Arnold, Georgianne L.; Qu, Chunjing; Ding, Yan; Muzny, Donna M.; Gibbs, Richard A.; Eng, Christine M.; Walkiewicz, Magdalena; Xia, Fan; Plon, Sharon E.; Lupski, James R.; Schaaf, Christian P.; Yang, Yaping

    2017-01-01

    ABL1 is a proto-oncogene well known as part of the fusion gene BCR-ABL in the Philadelphia chromosome of leukemia cancer cells1. Inherited germline ABL1 changes have not been associated with genetic disorders. Here we report ABL1 germline variants co-segregating with an autosomal dominant disorder characterized by congenital heart disease, skeletal abnormalities, and failure to thrive. The variant c.734A>G (p.Tyr245Cys) was found as de novo or co-segregating with disease in five individuals (families 1-3). Additionally, a de novo c.1066G>A (p.Ala356Thr) variant was identified in the sixth individual (family 4). We overexpressed the mutant constructs in HEK 293T cells and observed increased tyrosine phosphorylation, suggesting increased ABL1 kinase activities associated with both p.Tyr245Cys and p.Ala356Thr substitutions. Our clinical and laboratory findings, together with previously reported teratogenic effects of selective BCR-ABL inhibitors in humans2-5 and developmental defects in Abl1 knock-out mice6,7, suggest ABL1 plays an important role during organismal development. PMID:28288113

  4. Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.

    Science.gov (United States)

    Koenekoop, Robert K; Wang, Hui; Majewski, Jacek; Wang, Xia; Lopez, Irma; Ren, Huanan; Chen, Yiyun; Li, Yumei; Fishman, Gerald A; Genead, Mohammed; Schwartzentruber, Jeremy; Solanki, Naimesh; Traboulsi, Elias I; Cheng, Jingliang; Logan, Clare V; McKibbin, Martin; Hayward, Bruce E; Parry, David A; Johnson, Colin A; Nageeb, Mohammed; Poulter, James A; Mohamed, Moin D; Jafri, Hussain; Rashid, Yasmin; Taylor, Graham R; Keser, Vafa; Mardon, Graeme; Xu, Huidan; Inglehearn, Chris F; Fu, Qing; Toomes, Carmel; Chen, Rui

    2012-09-01

    Leber congenital amaurosis (LCA) is a blinding retinal disease that presents within the first year after birth. Using exome sequencing, we identified mutations in the nicotinamide adenine dinucleotide (NAD) synthase gene NMNAT1 encoding nicotinamide mononucleotide adenylyltransferase 1 in eight families with LCA, including the family in which LCA was originally linked to the LCA9 locus. Notably, all individuals with NMNAT1 mutations also have macular colobomas, which are severe degenerative entities of the central retina (fovea) devoid of tissue and photoreceptors. Functional assays of the proteins encoded by the mutant alleles identified in our study showed that the mutations reduce the enzymatic activity of NMNAT1 in NAD biosynthesis and affect protein folding. Of note, recent characterization of the slow Wallerian degeneration (Wld(s)) mouse model, in which prolonged axonal survival after injury is observed, identified NMNAT1 as a neuroprotective protein when ectopically expressed. Our findings identify a new disease mechanism underlying LCA and provide the first link between endogenous NMNAT1 dysfunction and a human nervous system disorder.

  5. Eye and brain abnormalities in congenital muscular dystrophies caused by fukutin-related protein gene (FKRP) mutations.

    Science.gov (United States)

    Kava, Maina; Chitayat, David; Blaser, Susan; Ray, Peter N; Vajsar, Jiri

    2013-11-01

    Mutations in the fukutin-related protein gene account for a broad spectrum of phenotypes ranging from severe congenital muscular dystrophies to a much milder limb-girdle muscular dystrophy 2I. The involvement of the eyes is variable, with most patients having normal eye examination. We describe eye and brain abnormalities in a 16 month-old-boy with Walker-Warburg syndrome phenotype resulting from a novel fukutin-related protein gene mutation in exon 4 and compare these with other reported patients with fukutin-related protein gene mutation. All patients with reported fukutin-related protein gene mutations who had eye involvement were included. Their clinical features, brain magnetic resonance imaging, and eye findings were compared with our patient. Patients with fukutin-related protein gene mutation tend to have no or mild eye involvement (generally strabismus), with very few cases reported of moderate to severe eye involvement. Our patient with a novel mutation c.558dupC(p.Ala187fs) represents one of the most severe phenotypes described in regard to eye involvement. Copyright © 2013 Elsevier Inc. All rights reserved.

  6. Congenital hypothyroidism

    Directory of Open Access Journals (Sweden)

    Pankaj Agrawal

    2015-01-01

    Full Text Available Congenital hypothyroidism (CH is the one of the most common preventable cause of mental retardation. In the majority of patients, CH is caused by an abnormal development of the thyroid gland (thyroid dysgenesis that is a sporadic disorder and accounts for 85% of cases and the remaining 15% of cases are caused by dyshormonogenesis. The clinical features of congenital hypothyroidism are so subtle that many newborn infants remain undiagnosed at birth and delayed diagnosis leads to the most severe outcome of CH, mental retardation, emphasizing the importance of neonatal screening. Dried capillary blood is used for screening and it is taken from heel prick optimally between 2 and 5 days of age. Blood spot TSH or thyroxine (T4 or both are being used for CH screening in different programs around the world. Neonates with abnormal thyroid screening tests should be recalled immediately for examination and a venipuncture blood sample should be drawn for confirmatory serum testing. Confirmatory serum should be tested for TSH and free T4, or total T4. Serum TSH and T4 undergo dynamic changes in the first weeks of life; it is important to compare serum results with age-normal reference ranges. Treatment should be started promptly and infant should be rendered euthyroid as early as possible, as there is an inverse relationship between intelligence quotient (IQ and the age at diagnosis. Levothyroxine (l-thyroxine is the treatment of choice and American academy of pediatrics and European society of pediatric endocrinology recommend 10-15μgm/kg/day as initial dose. The immediate goal of therapy is to normalize T4 within 2 weeks and TSH within one month. The overall goal of treatment is to ensure growth and neurodevelopmental outcomes as close as possible to their genetic potential.

  7. MR Imaging in Sudden Sensorineural Hearing Loss. Time to Talk.

    Science.gov (United States)

    Conte, G; Di Berardino, F; Sina, C; Zanetti, D; Scola, E; Gavagna, C; Gaini, L; Palumbo, G; Capaccio, P; Triulzi, F

    2017-08-01

    Sudden sensorineural hearing loss is defined as acute hearing loss of the sensorineural type of at least 30 dB over 3 contiguous frequencies that occurs within a 72-hour period. Although many different causative factors have been proposed, sudden sensorineural hearing loss is still considered "idiopathic" in 71%-85% of cases, and treatments are empiric, not based on etiology. MR imaging implemented with a 3D FLAIR sequence has provided new insights into the etiology of sudden sensorineural hearing loss. Herein, we review the current management trends for patients with sudden sensorineural hearing loss, from the initial clinical diagnosis to therapeutic strategies and diagnostic work-up. We focused primarily on MR imaging assessment and discuss the relevance that MR imaging findings might have for patient management, pointing out different perspectives for future clinical research. © 2017 by American Journal of Neuroradiology.

  8. Mobile phone usage does not affect sudden sensorineural hearing loss.

    Science.gov (United States)

    Sagiv, D; Migirov, L; Madgar, O; Nakache, G; Wolf, M; Shapira, Y

    2018-01-01

    Recent studies found that mobile phone users had a significantly greater risk of having elevated thresholds in speech frequencies. This study investigated the correlation between the laterality of sudden sensorineural hearing loss, handedness and the preferred ear for mobile phone use. The study included all patients who presented with sudden sensorineural hearing loss to the Department of Otolaryngology - Head and Neck Surgery in our tertiary referral medical centre between 2014 and 2016. Patients were asked to indicate their dominant hand and preferred ear for mobile phone use. The study comprised 160 patients. No correlation was found between the dominant hand or preferred ear for mobile phone use and the side of sudden sensorineural hearing loss. There was no correlation between the side of the sudden sensorineural hearing loss (preferable or non-preferable for mobile phone use) and audiometric characteristics. No correlation was found between the laterality of ears used for mobile phone and sudden sensorineural hearing loss.

  9. Mechanisms of Sensorineural Cell Damage, Death and Survival in the Cochlea

    Directory of Open Access Journals (Sweden)

    Allen Frederic Ryan

    2015-04-01

    Full Text Available The majority of acquired hearing loss, including presbycusis, is caused by irreversible damage to the sensorineural tissues of the cochlea. This article reviews the intracellular mechanisms that contribute to sensorineural damage in the cochlea, as well as the survival signaling pathways that can provide endogenous protection and tissue rescue. These data have primarily been generated in hearing loss not directly related to age. However, there is evidence that similar mechanisms operate in presbycusis. Moreover, accumulation of damage from other causes can contribute to age-related hearing loss. Potential therapeutic interventions to balance opposing but interconnected cell damage and survival pathways, such as antioxidants, anti-apoptotics, and pro-inflammatory cytokine inhibitors, are also discussed.

  10. Emergence of antiviral resistance during oral valganciclovir treatment of an infant with congenital cytomegalovirus (CMV) infection.

    Science.gov (United States)

    Choi, K Yeon; Sharon, B; Balfour, H H; Belani, K; Pozos, T C; Schleiss, M R

    2013-08-01

    Congenital infection with human cytomegalovirus (CMV) is a major cause of morbidity, including sensorineural hearing loss (SNHL), in newborns. Antiviral therapy with ganciclovir (GCV) and its oral prodrug, valganciclovir (VAL-GCV) are increasingly being administered to infected infants, toward the goal of improving neurodevelopmental and auditory outcomes. In this case report, we describe a symptomatic congenitally infected infant treated with VAL-GCV in whom GCV resistance was suspected, based on a 50-fold increase in viral load after 6 weeks of oral therapy. Analyses of CMV sequences from both blood and urine demonstrated populations of viruses with M460V and L595F mutations in the UL97 phosphotransferase gene. In contrast, analysis of viral DNA retrieved from the newborn dried blood spot demonstrated wild-type UL97 sequences. DNAemia resolved after the discontinuation of VAL-GCV. Long-term VAL-GCV therapy in congenitally infected infants can select for resistant viral variants, and anticipatory virological monitoring may be warranted. Copyright © 2013 Elsevier B.V. All rights reserved.

  11. Congenital lipoid adrenal hyperplasia caused by a novel splicing mutation in the gene for the steroidogenic acute regulatory protein.

    Science.gov (United States)

    González, Alexis A; Reyes, M Loreto; Carvajal, Cristian A; Tobar, Jaime A; Mosso, Lorena M; Baquedano, Paulina; Solar, Antonieta; Venegas, Alejandro; Fardella, Carlos E

    2004-02-01

    Steroidogenic acute regulatory protein (StAR) plays a crucial role in the transport of cholesterol from the cytoplasm to the inner mitochondrial membrane, facilitating its conversion to pregnenolone by cytochrome P450scc. Its essential role in steroidogenesis was demonstrated after observing that StAR gene mutations gave rise to a potentially lethal disease named congenital lipoid adrenal hyperplasia, in which virtually no steroids are produced. We report here a 2-month-old female patient, karyotype 46XY, who presented with growth failure, convulsions, dehydration, hypoglycemia, hyponatremia, hypotension, and severe hyperpigmentation suggestive of adrenal insufficiency. Serum cortisol, 17OH-progesterone, dehydroepiandrosterone sulfate, testosterone, 17OH-pregnenolone, and aldosterone levels were undetectable in the presence of high ACTH and plasma renin activity levels. Immunohistochemical analysis of testis tissues revealed the absence of StAR protein. Molecular analysis of StAR gene demonstrated a homozygous G to T mutation within the splice donor site of exon 1 (IVS1 + 1G>T). Her parents and one brother were heterozygous for this mutation. In vitro analysis of the mutation was performed in COS cells transfected with minigenes coding regions spanning exon-intron 1 to 3 carrying the mutant and the wild-type sequences. RT-PCR analyses of the mutant gene showed an abnormal mRNA transcript of 2430 bp (normal size 433 bp). Sequence analysis of the mutant mRNA demonstrated the retention of intron 1. Immunolocalization of the StAR minigene product detected the peptide in the mitochondria of COS cells transfected with the wild-type minigene but not in those transfected with the mutant minigene. We conclude that this mutation gives rise to a truncated StAR protein, which lacks an important N-terminal region and the entire lipid transfer domain.

  12. Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness.

    Science.gov (United States)

    Vincent, Ajoy; Audo, Isabelle; Tavares, Erika; Maynes, Jason T; Tumber, Anupreet; Wright, Thomas; Li, Shuning; Michiels, Christelle; Condroyer, Christel; MacDonald, Heather; Verdet, Robert; Sahel, José-Alain; Hamel, Christian P; Zeitz, Christina; Héon, Elise

    2016-05-05

    Congenital stationary night blindness (CSNB) is a heterogeneous group of non-progressive inherited retinal disorders with characteristic electroretinogram (ERG) abnormalities. Riggs and Schubert-Bornschein are subtypes of CSNB and demonstrate distinct ERG features. Riggs CSNB demonstrates selective rod photoreceptor dysfunction and occurs due to mutations in genes encoding proteins involved in rod phototransduction cascade; night blindness is the only symptom and eye examination is otherwise normal. Schubert-Bornschein CSNB is a consequence of impaired signal transmission between the photoreceptors and bipolar cells. Schubert-Bornschein CSNB is subdivided into complete CSNB with an ON bipolar signaling defect and incomplete CSNB with both ON and OFF pathway involvement. Both subtypes are associated with variable degrees of night blindness or photophobia, reduced visual acuity, high myopia, and nystagmus. Whole-exome sequencing of a family screened negative for mutations in genes associated with CSNB identified biallelic mutations in the guanine nucleotide-binding protein subunit beta-3 gene (GNB3). Two siblings were compound heterozygous for a deletion (c.170_172delAGA [p.Lys57del]) and a nonsense mutation (c.1017G>A [p.Trp339(∗)]). The maternal aunt was homozygous for the nonsense mutation (c.1017G>A [p.Trp339(∗)]). Mutational analysis of GNB3 in a cohort of 58 subjects with CSNB identified a sporadic case individual with a homozygous GNB3 mutation (c.200C>T [p.Ser67Phe]). GNB3 encodes the β subunit of G protein heterotrimer (Gαβγ) and is known to modulate ON bipolar cell signaling and cone transducin function in mice. Affected human subjects showed an unusual CSNB phenotype with variable degrees of ON bipolar dysfunction and reduced cone sensitivity. This unique retinal disorder with dual anomaly in visual processing expands our knowledge about retinal signaling. Copyright © 2016 The American Society of Human Genetics. Published by Elsevier Inc. All

  13. Congenital and prolonged adult-onset deafness cause distinct degradations in neural ITD coding with bilateral cochlear implants.

    Science.gov (United States)

    Hancock, Kenneth E; Chung, Yoojin; Delgutte, Bertrand

    2013-06-01

    Bilateral cochlear implant (CI) users perform poorly on tasks involving interaural time differences (ITD), which are critical for sound localization and speech reception in noise by normal-hearing listeners. ITD perception with bilateral CI is influenced by age at onset of deafness and duration of deafness. We previously showed that ITD coding in the auditory midbrain is degraded in congenitally deaf white cats (DWC) compared to acutely deafened cats (ADC) with normal auditory development (Hancock et al., J. Neurosci, 30:14068). To determine the relative importance of early onset of deafness and prolonged duration of deafness for abnormal ITD coding in DWC, we recorded from single units in the inferior colliculus of cats deafened as adults 6 months prior to experimentation (long-term deafened cats, LTDC) and compared neural ITD coding between the three deafness models. The incidence of ITD-sensitive neurons was similar in both groups with normal auditory development (LTDC and ADC), but significantly diminished in DWC. In contrast, both groups that experienced prolonged deafness (LTDC and DWC) had broad distributions of best ITDs around the midline, unlike the more focused distributions biased toward contralateral-leading ITDs present in both ADC and normal-hearing animals. The lack of contralateral bias in LTDC and DWC results in reduced sensitivity to changes in ITD within the natural range. The finding that early onset of deafness more severely degrades neural ITD coding than prolonged duration of deafness argues for the importance of fitting deaf children with sound processors that provide reliable ITD cues at an early age.

  14. Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects.

    Science.gov (United States)

    Boyle, Lia; Wamelink, Mirjam M C; Salomons, Gajja S; Roos, Birthe; Pop, Ana; Dauber, Andrew; Hwa, Vivian; Andrew, Melissa; Douglas, Jessica; Feingold, Murray; Kramer, Nancy; Saitta, Sulagna; Retterer, Kyle; Cho, Megan T; Begtrup, Amber; Monaghan, Kristin G; Wynn, Julia; Chung, Wendy K

    2016-06-02

    Whole-exome sequencing (WES) is increasingly being utilized to diagnose individuals with undiagnosed disorders. Developmental delay and short stature are common clinical indications for WES. We performed WES in three families, using proband-parent trios and two additional affected siblings. We identified a syndrome due to an autosomal-recessively inherited deficiency of transketolase, encoded by TKT, on chromosome 3p21. Our series includes three families with a total of five affected individuals, ranging in age from 4 to 25 years. Two families of Ashkenazi Jewish ancestry were homozygous for an 18 base pair in-frame insertion in TKT. The third family was compound heterozygous for nonsense and missense variants in TKT. All affected individuals had short stature and were developmentally delayed. Congenital heart defects were noted in four of the five affected individuals, and there was a history of chronic diarrhea and cataracts in the older individuals with the homozygous 18 base pair insertion. Enzymatic testing confirmed significantly reduced transketolase activity. Elevated urinary excretion of erythritol, arabitol, ribitol, and pent(ul)ose-5-phosphates was detected, as well as elevated amounts of erythritol, arabitol, and ribitol in the plasma of affected individuals. Transketolase deficiency reduces NADPH synthesis and nucleic acid synthesis and cell division and could explain the problems with growth. NADPH is also critical for maintaining cerebral glutathione, which might contribute to the neurodevelopmental delays. Transketolase deficiency is one of a growing list of inborn errors of metabolism in the non-oxidative part of the pentose phosphate pathway. Copyright © 2016 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  15. Recovery of Idiopathic Sudden Sensorineural Hearing Loss.

    Science.gov (United States)

    Edizer, Deniz Tuna; Çelebi, Özlem; Hamit, Bahtiyar; Baki, Ahmet; Yiğit, Özgür

    2015-08-01

    The objective was to identify and evaluate factors that may influence the recovery rate in patients with idiopathic sudden sensorineural hearing loss (ISSNHL). A retrospective analysis was performed for patients with sudden sensorineural hearing loss between 2009 and 2013. Those with an identified etiology were excluded. The patients were divided into four treatment groups: (i) systemic corticosteroids (SC) only, (ii) SC+low-molecular-weight heparin (LMWH), (iii) SC+hyperbaric oxygen (HBO), and (iv) SC+LMWH+HBO. Recovery was evaluated according to Siegel's criteria. Age, initial hearing level, onset, treatment and audiogram types, comorbidities, and associated tinnitus and vestibular symptoms were investigated for their impact on prognosis. Two hundred five patients with ISSNHL were included. Recovery was seen in 59% of the patients. The complete recovery rate was significantly lower in patients older than 60 years and in patients presenting with profound hearing loss. Different audiogram curves had no significant effect on recovery. Sudden hearing loss was accompanied by tinnitus in 107 (52.1%) patients and vestibular symptoms in 55 (26.8%); however, neither was noted to affect prognosis. Different treatment combinations did not significantly affect prognosis. However, hypertension and a delay in treatment by more than 10 days from the onset of hearing loss were associated with a worse prognosis. Profound hearing loss, older than 60 years, a delay in treatment by more than 10 days, and hypertension were negative prognostic factors in this study, whereas, the type of audiogram curve and addition of HBO to SC did not affect prognosis.

  16. Studying VEMP in Sudden Sensorineural Hearing Loss

    Directory of Open Access Journals (Sweden)

    Mohsen Rajati

    2011-03-01

    Full Text Available Introduction: Sudden sensorineural hearing loss (SSNHL has a prevalence of 10 in 100,000. Viral infections, vascular obstruction and rupture of the intracochlear membranes are supposed to be its most common etiologies. About 40% of patients experience vertigo or imbalance. The VEMP (vestibular evoked myogenic potentials test is a known approach for detailed study of the labyrinth. The advantage of this test in comparison to other tests is the selected study of sacculus and sacculocochlear pathways. Materials and Methods:  In this cross sectional study all patients with SSNHL diagnosis were admitted and underwent routine standard treatments and diagnostic tests. Clinical symptoms and paraclinic findings were recorded in especially designed forms and VEMP test was performed on admission. Results: Among the 43 cases with sudden sensorineural hearing loss, 14 (32.6% had vertigo. Thirteen patients (39.2% out of 43 had a negative (abnormal VEMP, 6 of which (42.9% had vertigo, while in the 30 VEMP positive (normal cases, vertigo was detected in 8 (26.6%. Discussion: Saccular dysfunction seems to be an important finding in SSNHL. Although it is more prevalent in the patients with vertigo, it can be found in the non-dizzy cases. VEMP disturbance in SSNHL shows more extensive pathological involvement. Conclusion: In SSNHL the pathology isn’t limited to the cochlea and even in patients with no vestibular symptoms sacculus might be involved.

  17. Allan-Herndon-Dudley syndrome with unusual profound sensorineural hearing loss.

    Science.gov (United States)

    Gagliardi, Lucia; Nataren, Nathalie; Feng, Jinghua; Schreiber, Andreas W; Hahn, Christopher N; Conwell, Louise S; Coman, David; Scott, Hamish S

    2015-08-01

    The Allan-Herndon-Dudley syndrome is caused by mutations in the thyroid hormone transporter, Monocarboxylate transporter 8 (MCT8). It is characterized by profound intellectual disability and abnormal thyroid function. We report on a patient with Allan-Herndon-Dudley syndrome (AHDS) with profound sensorineural hearing loss which is not usually a feature of AHDS and which may have been due to a coexisting nonsense mutation in Microphthalmia-associated transcription factor (MITF). © 2015 Wiley Periodicals, Inc.

  18. Viral load in children with congenital cytomegalovirus infection identified on newborn hearing screening.

    Science.gov (United States)

    Kawada, Jun-ichi; Torii, Yuka; Kawano, Yoshihiko; Suzuki, Michio; Kamiya, Yasuko; Kotani, Tomomi; Kikkawa, Fumitaka; Kimura, Hiroshi; Ito, Yoshinori

    2015-04-01

    Congenital cytomegalovirus (CMV) infection is the most common non-genetic cause of sensorineural hearing loss (SNHL) in children. However, congenital SNHL without other clinical abnormalities is rarely diagnosed as CMV-related in early infancy. The aim of this study was to identify and treat patients with congenital CMV-related SNHL or CMV-related clinical abnormalities other than SNHL. The association between CMV load and SNHL was also evaluated. Newborns who had abnormal hearing screening results or other clinical abnormalities were screened for congenital CMV infection by PCR of saliva or urine specimens, and identified infected patients were treated with valganciclovir (VGCV) for 6 weeks. The CMV load of patients with or without SNHL was compared at regular intervals during as well as after VGCV treatment. Of 127 infants with abnormal hearing screening results, and 31 infants with other clinical abnormalities, CMV infection was identified in 6 and 3 infants, respectively. After VGCV treatment, 1 case had improved hearing but the other 5 SNHL cases had little or no improvement. Among these 9 patients with or without SNHL at 1 year of age, there was no significant difference in CMV blood or urine load at diagnosis, but both were significantly higher in patients with SNHL during VGCV treatment. Selective CMV screening of newborns having an abnormal hearing screening result would be a reasonable strategy for identification of symptomatic congenital CMV infection. Prolonged detection of CMV in blood could be a risk factor for SNHL. Copyright © 2015 Elsevier B.V. All rights reserved.

  19. Update on treatment of cytomegalovirus infection in pregnancy and of the newborn with congenital cytomegalovirus.

    Science.gov (United States)

    Rawlinson, William D; Hamilton, Stuart T; van Zuylen, Wendy J

    2016-12-01

    The purpose of this review is to assess the recent studies of therapy of pregnant women and neonates, aimed at preventing the consequences of congenital cytomegalovirus (CMV) infection. A recent randomized controlled trial of treatment of CMV during pregnancy with hyperimmune globulin did not show significant efficacy in prevention of foetal infection and morbidity, although there was a trend towards improvement with treatment. Trials of antiviral therapy of the mother during pregnancy have involved small numbers only, confounded by ethical and practical difficulties, and further studies are needed to demonstrate whether or not antivirals are useful and well tolerated in this setting.Antiviral treatment of neonatal CMV acquired congenitally has been studied in well controlled trials and the antiviral valganciclovir has shown efficacy in reducing the more severe outcomes. Trials are ongoing of the use of antivirals in less severe disease, although results are likely to take several years. Congenital CMV infection is the most frequent cause of congenital malformation in developed countries, with a symptomatic prevalence of 0.64% of all live births. Infection may result in neurodevelopmental delay, foetal or neonatal death, and most frequently, sensorineural hearing loss. Successful control of viral infections during pregnancy and in the newborn period is essential in reducing early and late morbidity and mortality. Control of congenital CMV infection may be via primary prevention methods such as reducing contact with the pathogen, improved hygiene - both for the pregnant mother and for the neonate, or secondary prevention via reduction of vertical transmission from mother to foetus and reduction in consequences of infection by treatment of infected pregnant women and infected neonates.

  20. Review of cytomegalovirus shedding in bodily fluids and relevance to congenital cytomegalovirus infection

    Science.gov (United States)

    Cannon, Michael J.; Hyde, Terri B.; Schmid, D. Scott

    2015-01-01

    SUMMARY Congenital cytomegalovirus (CMV) infections are a leading cause of sensorineural hearing loss (SNHL) and neurological impairment. Congenital transmission of CMV can occur with maternal primary infection, reactivation, or reinfection during pregnancy. We reviewed studies of CMV shedding in bodily fluids (defined as CMV detected by culture or CMV DNA detected by polymerase chain reaction). Following diagnosis at birth, children with congenital CMV infection exhibited the highest prevalences of CMV shedding (median = 80%, number of sample population prevalences [N] = 6) and duration of shedding, with a steep decline by age five. Healthy children attending day care shed more frequently (median = 23%, N = 24) than healthy children not attending day care (median = 12%, N = 11). Peak shedding prevalences in children occurred at 1–2 years of age, confirming that young children are the key transmission risk for pregnant women. CMV shedding among children was more prevalent in urine specimens than in oral secretions (median prevalence difference = 11.5%, N = 12). Adults with risk factors such as STD clinic attendance had higher shedding prevalences (median = 22%, N = 20) than adults without risk factors (median = 7%, N = 44). In adults with risk factors, CMV was shed more frequently in urine; in adults without risk factors genital shedding was most common. The prevalence of CMV shedding in nine sample populations of pregnant women increased with advancing gestation. In seven sample populations of children with congenital CMV infection, higher viral load at birth was consistently associated with an elevated risk of SNHL. Higher CMV viral load at birth also consistently correlated with the presence of symptoms of congenital CMV at birth. Published 2011. This article is a US Government work and is in the public domain in the USA. PMID:21674676

  1. Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation

    Directory of Open Access Journals (Sweden)

    Erin Conboy

    2017-01-01

    Full Text Available ACTB encodes the β-actin, and pathogenic variations in this gene have typically been associated with Baraitser-Winter cerebrofrontofacial syndrome, a congenital malformation syndrome characterized by short stature, craniofacial anomalies, and cerebral anomalies. Here, we describe the third case with the p.Arg183Trp variant in ACTB causing juvenile-onset dystonia. Our patient has severe, intractable dystonia, developmental delay, and sensorineural hearing loss, besides hyperintensities in the caudate nuclei and putamen on the brain MRI, which is a distinct but overlapping phenotype with the previously reported case of identical twins with the same alteration in ACTB.

  2. Congenital Anomalies among Live Births

    OpenAIRE

    Vivian Rosa Vázquez Martínez; Cristobal Jorge Torres González; Alina Luisa Díaz Dueñas; Grisel Torres Vázquez; Dariel Diaz Díaz; Rafael de la Rosa López

    2014-01-01

    Background: congenital anomalies contribute significantly to mortality during early stages of life; they are the leading cause of infant death in developed countries.Objective: to determine the characteristics of congenital anomalies among live births. Methods: a descriptive study was conducted in the province of Cienfuegos in 2012. Thirty-seven women who had live-born neonates with congenital anomalies were studied. The variables analyzed were: parental age, skin color, order of birth, famil...

  3. Sudden sensorineural hearing loss: a review of diagnosis, treatment, and prognosis.

    Science.gov (United States)

    Kuhn, Maggie; Heman-Ackah, Selena E; Shaikh, Jamil A; Roehm, Pamela C

    2011-09-01

    Sudden sensorineural hearing loss (SSNHL) is commonly encountered in audiologic and otolaryngologic practice. SSNHL is most commonly defined as sensorineural hearing loss of 30 dB or greater over at least three contiguous audiometric frequencies occurring within a 72-hr period. Although the differential for SSNHL is vast, for the majority of patients an etiologic factor is not identified. Treatment for SSNHL of known etiology is directed toward that agent, with poor hearing outcomes characteristic for discoverable etiologies that cause inner ear hair cell loss. Steroid therapy is the current mainstay of treatment of idiopathic SSNHL in the United States. The prognosis for hearing recovery for idiopathic SSNHL is dependent on a number of factors including the severity of hearing loss, age, presence of vertigo, and shape of the audiogram.

  4. Ethics of Placebo Control in Trials for Idiopathic Sudden Sensorineural Hearing Loss.

    Science.gov (United States)

    Maldonado Fernández, Miguel; Kornetsky, Susan; Rubio Rodriguez, Laura

    2016-07-01

    Idiopathic sudden sensorineural hearing loss (ISSHL) involves sudden loss of hearing from cochlear or retrocochlear origin of unknown cause. Systemic corticosteroids may be considered in the management of ISSNHL. However, an updated Cochrane systematic review concludes that "the value of steroids in the treatment of idiopathic sudden sensorineural hearing loss remains unclear since the evidence obtained from randomized controlled trials is contradictory in outcome." Therefore, a new clinical trial that addresses this question is mandatory. A first step in its design is to determine if placebo control would be ethically acceptable. We conclude that there is equipoise (uncertainty) about the use of corticosteroids for ISSHL. A new trial is justified-but with the inclusion of interim analyses to detect early imbalances on efficacy or safety and with the ability to stop the trial if needed. © American Academy of Otolaryngology—Head and Neck Surgery Foundation 2016.

  5. Sudden Sensorineural Hearing Loss; Prognostic Factors

    Directory of Open Access Journals (Sweden)

    Arjun Dass

    2015-09-01

    Full Text Available Introduction: Sudden sensorineural hearing loss (SSNHL is a frightening and frustrating symptom for the patient as well as the physician. Prognosis is affected by multiple factors including duration of hearing loss, presence of associated vertigo and tinnitus, and co-morbidities such as hypertension and diabetes.   Materials and Methods: Forty subjects presenting to our department with features of sudden hearing loss were included in the study. Detailed otological history and examination, serial audiometric findings and course of disease were studied.   Results: Subjects presenting late (in older age, having associated vertigo, hypertension and diabetes had a significantly lower rate of recovery.   Conclusion:  Only 60–65% of patients experiencing SSNHL recover within a period of 1 month; this rate is further affected by presence of multiple prognostic indicators.

  6. A previously unidentified deletion in G protein-coupled receptor 143 causing X-linked congenital nystagmus in a Chinese family

    Directory of Open Access Journals (Sweden)

    Jing Liu

    2016-01-01

    Full Text Available Background: Congenital nystagmus (CN is characterized by conjugated, spontaneous, and involuntary ocular oscillations. It is an inherited disease and the most common inheritance pattern is X-linked CN. In this study, our aim is to identify the disease-causing mutation in a large sixth-generation Chinese family with X-linked CN. Methods: It has been reported that mutations in four-point-one, ezrin, radixin, moesin domain-containing 7 gene (FRMD7 and G protein-coupled receptor 143 gene (GPR143 account for the majority patients of X-linked nystagmus. We collected 8 ml blood samples from members of a large sixth-generation pedigree with X-linked CN and 100 normal controls. FRMD7 and GPR143 were scanned by polymerase chain reaction (PCR-based DNA sequencing assays, and multiplex PCR assays were applied to detect deletions. Results: We identified a previously unreported deletion covering 7 exons in GPR143 in a Chinese family. The heterozygous deletion from exon 3 to exon 9 of GPR143 was detected in all affected males in the family, while it was not detected in other unaffected relatives or 100 normal controls. Conclusions: This is the first report of molecular characterization in GPR143 gene in the CN family. Our results expand the spectrum of GPR143 mutations causing CN and further confirm the role of GPR143 in the pathogenesis of CN.

  7. Sensorineural hearing loss in patients with Kawasaki disease.

    Science.gov (United States)

    Park, Sun Young; Kim, Young Hyun; Kim, Yeo Hyang; Hyun, Myung Chul; Lee, Young Hwan

    2015-11-01

    Kawasaki disease involves acute febrile systemic vasculitis that can cause a variety of symptoms by affecting various organs. Here, we aimed to evaluate the prevalence, causes, and prognosis of sensorineural hearing loss (SNHL) occurring in children with Kawasaki disease. Patients who were diagnosed with Kawasaki disease and received inpatient treatment in the Pediatrics Department at one of three university hospitals in Daegu city from February 2012 to September 2012 were enrolled in the study. The clinical features, hematological results, echocardiography results, audiometry results, and aspirin and salicylic acid serum levels of the patients were evaluated. Of the 59 children enrolled in the study, three showed mild bilateral SNHL on audiometry tests conducted after 48 hours of defervescence; these patients demonstrated normal patterns of recovery on follow-up tests 8 weeks later. Aspirin serum levels were significantly higher in the SNHL group after 48 hours of afebrile condition with high dose aspirin intake (P=0.034). However, no significant differences were found in other laboratory tests or for fever duration (P>0.05). Upon echocardiography, coronary artery abnormality was observed in 9 cases, but none of these patients showed hearing loss. The results indicate that SNHL in children with Kawasaki disease might occur during treatment of the acute phase; this SNHL usually involves mild bilateral hearing loss and recovers naturally. However, this study suggests that determination of the causes and clinical implications of hearing loss in Kawasaki disease requires long-term follow-up studies with more cases.

  8. Infantile variant of Bartter syndrome and sensorineural deafness: A new autosomal recessive disorder

    Energy Technology Data Exchange (ETDEWEB)

    Landau, D.; Shalev, H.; Carmi, Rivka; Ohaly, M. [Univ. of the Negev, Ashkelon (Israel)

    1995-12-04

    The infantile variant of Bartter syndrome (IBS) is usually associated with maternal polyhydramnios, premature birth, postnatal polyuria and hypokalemic hypochloremic metabolic alkalosis and a typical appearance. IBS is thought to be an autosomal recessive trait. Several congenital tubular defects are associated with sensorineural deafness (SND). However, an association between the IBS and SND has not been reported so far. Here we describe 5 children of an extended consanguineous Bedouin family with IBS and SND. In 3 of the cases, the typical electrolyte imbalance and facial appearance were detected neonatally. SND was detected as early as age 1 month, suggesting either coincidental homozygotization of 2 recessive genes or a pleiotropic effect of one autosomal recessive gene. This association suggests that evaluation of SND is warranted in every case of IBS. 35 refs., 2 figs., 2 tabs.

  9. Congenital cytomegalovirus infection in pregnancy: a review of prevalence, clinical features, diagnosis and prevention.

    Science.gov (United States)

    Naing, Zin W; Scott, Gillian M; Shand, Antonia; Hamilton, Stuart T; van Zuylen, Wendy J; Basha, James; Hall, Beverly; Craig, Maria E; Rawlinson, William D

    2016-02-01

    Human cytomegalovirus (CMV) is under-recognised, despite being the leading infectious cause of congenital malformation, affecting ~0.3% of Australian live births. Approximately 11% of infants born with congenital CMV infection are symptomatic, resulting in clinical manifestations, including jaundice, hepatosplenomegaly, petechiae, microcephaly, intrauterine growth restriction and death. Congenital CMV infection may cause severe long-term sequelae, including progressive sensorineural hearing loss and developmental delay in 40-58% of symptomatic neonates, and ~14% of initially asymptomatic infected neonates. Up to 50% of maternal CMV infections have nonspecific clinical manifestations, and most remain undetected unless specific serological testing is undertaken. The combination of serology tests for CMV-specific IgM, IgG and IgG avidity provide improved distinction between primary and secondary maternal infections. In pregnancies with confirmed primary maternal CMV infection, amniocentesis with CMV-PCR performed on amniotic fluid, undertaken after 21-22 weeks gestation, may determine whether maternofetal virus transmission has occurred. Ultrasound and, to a lesser extent, magnetic resonance imaging are valuable tools to assess fetal structural and growth abnormalities, although the absence of fetal abnormalities does not exclude fetal damage. Diagnosis of congenital CMV infection at birth or in the first 3 weeks of an infant's life is crucial, as this should prompt interventions for prevention of delayed-onset hearing loss and neurodevelopmental delay in affected infants. Prevention strategies should also target mothers because increased awareness and hygiene measures may reduce maternal infection. Recognition of the importance of CMV in pregnancy and in neonates is increasingly needed, particularly as therapeutic and preventive interventions expand for this serious problem. © 2015 The Royal Australian and New Zealand College of Obstetricians and Gynaecologists.

  10. Mutations of TMC1 cause deafness by disrupting mechanoelectrical transduction

    Science.gov (United States)

    Nakanishi, Hiroshi; Kurima, Kiyoto; Kawashima, Yoshiyuki; Griffith, Andrew J.

    2014-01-01

    Objective Mutations of transmembrane channel-like 1 gene (TMC1) can cause dominant (DFNA36) or recessive (DFNB7/B11) deafness. In this article, we describe the characteristics of DFNA36 and DFNB7/B11 deafness, the features of the Tmc1 mutant mouse strains, and recent advances in our understanding of TMC1 function. Methods Publications related to TMC1, DFNA36 or DFNB7/B11 were identified through PubMed. Results All affected DFNA36 subjects showed post-lingual, progressive, sensorineural hearing loss (HL), initially affecting high frequencies. In contrast, almost all affected DFNB7/B11 subjects demonstrated congenital or prelingual severe to profound sensorineural HL. The mouse Tmc1 gene also has dominant and recessive mutant alleles that cause HL in mutant strains, including Beethoven, deafness and Tmc1 knockout mice. These mutant mice have been instrumental for revealing that Tmc1 and its closely related paralog Tmc2 are expressed in cochlear and vestibular hair cells, and are required for hair cell mechanoelectrical transduction (MET). Recent studies suggest that TMC1 and TMC2 may be components of the long-sought hair cell MET channel. Conclusion TMC1 mutations disrupt hair cell MET. PMID:24933710

  11. Mutations of TMC1 cause deafness by disrupting mechanoelectrical transduction.

    Science.gov (United States)

    Nakanishi, Hiroshi; Kurima, Kiyoto; Kawashima, Yoshiyuki; Griffith, Andrew J

    2014-10-01

    Mutations of transmembrane channel-like 1 gene (TMC1) can cause dominant (DFNA36) or recessive (DFNB7/B11) deafness. In this article, we describe the characteristics of DFNA36 and DFNB7/B11 deafness, the features of the Tmc1 mutant mouse strains, and recent advances in our understanding of TMC1 function. Publications related to TMC1, DFNA36, or DFNB7/B11 were identified through PubMed. All affected DFNA36 subjects showed post-lingual, progressive, sensorineural hearing loss (HL), initially affecting high frequencies. In contrast, almost all affected DFNB7/B11 subjects demonstrated congenital or prelingual severe to profound sensorineural HL. The mouse Tmc1 gene also has dominant and recessive mutant alleles that cause HL in mutant strains, including Beethoven, deafness, and Tmc1 knockout mice. These mutant mice have been instrumental for revealing that Tmc1 and its closely related paralog Tmc2 are expressed in cochlear and vestibular hair cells, and are required for hair cell mechanoelectrical transduction (MET). Recent studies suggest that TMC1 and TMC2 may be components of the long-sought hair cell MET channel. TMC1 mutations disrupt hair cell MET. Published by Elsevier Ireland Ltd.

  12. Congenital Cytomegalovirus Infection: Clinical Outcome

    Science.gov (United States)

    Boppana, Suresh B.; Ross, Shannon A.; Fowler, Karen B.

    2013-01-01

    Congenital cytomegalovirus (CMV) infection is a leading cause of hearing loss and neurologic disabilities in children worldwide. Infants with symptomatic congenital CMV infection at birth are at significantly increased risk for developing adverse long-term outcomes. The vast majority of infants with congenital CMV infection have no clinical findings at birth (asymptomatic infants), and about 10%–15% of these children develop long-term sequelae. Currently, predictors of adverse outcome in asymptomatic congenital CMV infection are not known, and it is important that future studies address this issue. PMID:24257422

  13. Multimodality characterization of a noncommunicating congenital duodenal duplication cyst causing pyloric outflow obstruction in a young dog.

    Science.gov (United States)

    Mutascio, Liliana; Vilaplana Grosso, Federico; Ramos-Vara, José; Simons, Micha

    2017-05-11

    A 10-month-old German Shepherd Dog presented for evaluation of intermittent vomiting. Abdominal radiographs revealed a marked right cranial mass effect. Initial differentials included abscess/cyst or less likely neoplasia from undetermined origin. On abdominal ultrasound the mass appeared cystic and thin walled. Computed tomography revealed a large cystic lesion originating from the pyloroduodenal junction causing pyloric outflow obstruction. A noncommunicating duodenal duplication cyst was found on exploratory laparotomy and further confirmed with histopathology and immunohistochemistry. Enteric duplication cyst should be considered as a differential in young dogs with gastrointestinal signs and a cystic abdominal mass detected with different imaging modalities. © 2017 American College of Veterinary Radiology.

  14. [Congenital hypothyroidism].

    Science.gov (United States)

    Castilla Peón, María Fernanda

    Congenital hypothyroidism (CH) is a cause of preventable mental retardation; therefore, timely diagnosis and treatment by the primary care physician is very important. CH screening must be performed between the second and fifth days of life with capillary blood done with a heel prick and must be confirmed by measurement of thyroid hormones in venous blood. The most common cause of CH is thyroid dysgenesis, which may be identified by a thyroid scan carried out before initiating treatment. Treatment should be with levothyroxine (10-15μg/kg/day) and should not be delayed or suspended during the first 3 years of life due to the deleterious effect on neurodevelopment in case of low thyroid hormones during this time. Preterm or sick infants or those with Down syndrome require special consideration. This article provides diagnostic and therapeutic algorithms for CH. Copyright © 2015 Hospital Infantil de México Federico Gómez. Publicado por Masson Doyma México S.A. All rights reserved.

  15. Congenital tuberculosis

    African Journals Online (AJOL)

    Prof Ezechukwu

    2012-06-20

    Jun 20, 2012 ... Key words: Congenital tuberculo- sis, case report, miliary tuberculosis. Introduction. Congenital tuberculosis defines tuberculosis in infants of .... tary TB and otitis media, resulting in seizures, deafness, and death. It is therefore not surprising that the index case who presented at twelve weeks of age, had ...

  16. Congenital Myopathy

    Science.gov (United States)

    ... results in weakness. Congenital myopathy refers to a group of muscle disorders that appear at birth or in infancy. Typically, an infant with a congenital myopathy will be "floppy," have difficulty breathing or feeding, and will lag behind other babies in meeting ...

  17. Congenital Myasthenia

    Science.gov (United States)

    ... Symptoms of congenital myasthenia usually appear in the first few years of childhood, but may not be noticeable until much later, ... Symptoms of congenital myasthenia usually appear in the first few years of childhood, but may not be noticeable until much later, ...

  18. Congenital ganglioglioma.

    Science.gov (United States)

    Karthikeyan, Gengaimuthu; Subburam, Paiyanan; Ravishankar, Soundian Soundian

    2002-03-01

    Congenital neoplasms of brain presenting at birth are extremely uncommon. We report a case of congenital ganglioglioma presenting at birth with hydrocephalus. Ventriculoperitoneal shunt and surgical debulking of the tumour along with histopathological confirmation were done at 6 months of age. On follow-up at 18 months, the child's hydrocephalus is static and his assessed developmental age is 10-12 months.

  19. Sensorineural Hearing Loss and Celiac Disease: A Coincidental Finding

    Directory of Open Access Journals (Sweden)

    Umberto Volta

    2009-01-01

    Full Text Available BACKGROUND: Celiac disease (CD can be associated with a variety of extraintestinal manifestations, including neurological diseases. A new neurological correlation has been found between CD and sensorineural hearing loss (SNHL.

  20. Sar1-GTPase-dependent ER exit of KATP channels revealed by a mutation causing congenital hyperinsulinism

    DEFF Research Database (Denmark)

    Taneja, Tarvinder K; Mankouri, Jamel; Karnik, Rucha

    2009-01-01

    The ATP-sensitive potassium (K(ATP)) channel controls insulin secretion by coupling glucose metabolism to excitability of the pancreatic beta-cell membrane. The channel comprises four subunits each of Kir6.2 and the sulphonylurea receptor (SUR1), encoded by KCNJ11 and ABCC8, respectively. Mutations...... caused by one such mutation in Kir6.2, E282K. The study led to the discovery that Kir6.2 contains a di-acidic ER exit signal, (280)DLE(282), which promotes concentration of the channel into COPII-enriched ER exit sites prior to ER export via a process that requires Sar1-GTPase. The E282K mutation...... abrogates the exit signal, and thereby prevents the ER export and surface expression of the channel. When co-expressed, the mutant subunit was able to associate with the wild-type Kir6.2 and form functional channels. Thus unlike most mutations, the E282K mutation does not cause protein mis-folding. Since...

  1. Congenital disorders of glycosylation type I: a rare but new cause of hyperechoic kidneys in infants and children due to early microcystic changes

    International Nuclear Information System (INIS)

    Hertz-Pannier, Lucie; Emond, Sophie; Brunelle, Francis; Dechaux, Michele; Sinico, Martine; Cormier-Daire, Valerie; Saudubray, Jean-Marie; Lonlay, Pascale de; Niaudet, Patrick; Seta, Nathalie

    2006-01-01

    There are numerous causes of bilateral hyperechoic kidneys. Congenital disorders of glycosylation (CDGs) are a rapidly growing family of inherited disorders due to defects in the synthesis of the glycans of glycoproteins or other glycoconjugates. To describe renal sonographic abnormalities in CDG type I in infants and children. A retrospective study of renal US in 12 infants and children: 8 CDG-Ia (6 multivisceral forms, 2 neurological forms), 2 CDG-Ib, and 2 CDG-Ix, with detailed functional renal tests in 6. Histology of the kidneys of one 35-week fetus with CDG-Ia was available. Renal US was normal in the two children with the neurological form of CDG-Ia. All patients with the multivisceral form of CDG-Ia or with CDG-Ib showed increased cortical echogenicity, and/or abnormal pyramids (small +/- hyperechoic). The two patients with CDG-Ix showed predominant involvement of the medulla, with inverted corticomedullary differentiation in one. Kidney size was normal in all but two patients. The fetal kidneys exhibited diffuse microcysts arising from the distal tubules. Hyperechoic kidneys are common in CDG-I patients, contrasting with grossly preserved renal function. The US pattern seems to differ slightly according to the type of CDG-I, and is consistent with microcystic changes of the renal parenchyma, which occur prenatally, and may be due to ciliary dysfunction secondary to altered glycosylation of tubular glycoproteins. CDG-I, which remains largely underdiagnosed at present, should be added to the causes of hyperechoic kidneys in children, especially in cases of multivisceral involvement, after ruling out other more frequent causes. (orig.)

  2. Demographic and Clinical Aspects of Congenital Hypothyroidism ...

    African Journals Online (AJOL)

    Introduction: Congenital hypothyroidism is the most common congenital endocrine disorder worldwide. Approximately 80 to 85% of cases are caused by defects in thyroid development (dysgenesis), the remaining 15 to 20% are due to errors of thyroid hormone biosynthesis (dyshormonogenesis). Congenital hypothyroidism ...

  3. Disacusia neurossensorial imunomediada Immunomediated sensorineural hearing loss

    Directory of Open Access Journals (Sweden)

    Norma de Oliveira Penido

    2002-10-01

    Full Text Available A disacusia neurossensorial imunomediada (DNSI é caracterizada geralmente por uma disacusia neurossensorial bilateral, progressiva e assimétrica, acompanhada ou não por outros sintomas da orelha interna. Três pacientes com DNSI cujo quadro clínico e audiométrico eram sugestivos de doença auto-imune, e apresentaram resposta positiva à terapia imunossupressora ou pesquisa positiva de anticorpo anti hsp-70 68kD, foram estudados com relação às características clínicas, testes diagnósticos, alternativas terapêuticas e evolução da doença. Dois pacientes apresentaram quadro de disacusia neurossensorial rapidamente progressiva, associado a quadro vestibular, e outro, quadro de surdez súbita unilateral. Nenhum paciente apresentou positividade às provas reumatológicas, e apenas um paciente apresentou aumento na velocidade de hemossedimentação. Nenhum paciente obteve resposta adequada sustentada à corticoterapia, mas dois deles melhoraram com outras terapias imunossupressoras. O diagnóstico da DNSI é clínico e baseado na resposta positiva ao teste terapêutico com imunossupressores. A pesquisa de anticorpo anti-hsp70 de 68 kD pelo Western Blot é o único exame laboratorial específico para seu diagnóstico, possuindo sensibilidade de 42% e especificidade de 90%. Apenas 1 paciente apresentou positividade para este teste e não respondeu à terapia imunossupressora. Os dois pacientes com teste negativo responderam satisfatoriamente ao tratamento. A baixa sensibilidade do Western Blot e seu alto custo dificultam sua difusa utilização em nosso meio. A introdução precoce do tratamento é de suma importância por auxiliar no diagnóstico e por proporcionar um melhor prognóstico auditivo.The immunomediated sensorineural hearing loss (ISHL is characterized as an asymmetric and progressive sensorineural hearing loss. Tree patients with ISHL were studied, regarding clinical aspects, diagnostic tests, treatment options and disease

  4. The D173G mutation in ADAMTS-13 causes a severe form of congenital thrombotic thrombocytopenic purpura. A clinical, biochemical and in silico study.

    Science.gov (United States)

    Lancellotti, Stefano; Peyvandi, Flora; Pagliari, Maria Teresa; Cairo, Andrea; Abdel-Azeim, Safwat; Chermak, Edrisse; Lazzareschi, Ilaria; Mastrangelo, Stefano; Cavallo, Luigi; Oliva, Romina; De Cristofaro, Raimondo

    2016-01-01

    Congenital thrombotic thrombocytopenic purpura (TTP) is a rare form of thrombotic microangiopathy, inherited with autosomal recessive mode as a dysfunction or severe deficiency of ADAMTS-13 (A Disintegrin And Metalloprotease with ThromboSpondin 1 repeats Nr. 13), caused by mutations in the ADAMTS-13 gene. About 100 mutations of the ADAMTS-13 gene were identified so far, although only a few characterised by in vitro expression studies. A new Asp to Gly homozygous mutation at position 173 of ADAMTS-13 sequence was identified in a family of Romanian origin, with some members affected by clinical signs of TTP. In two male sons, this mutation caused a severe (< 3%) deficiency of ADAMTS-13 activity and antigen level, associated with periodic thrombocytopenia, haemolytic anaemia and mild mental confusion. Both parents, who are cousins, showed the same mutation in heterozygous form. Expression studies of the mutant ADAMTS-13, performed in HEK293 cells, showed a severe decrease of the enzyme's activity and secretion, although the protease was detected inside the cells. Molecular dynamics found that in the D173G mutant the interface area between the metalloprotease domain and the disintegrin-like domain significantly decreases during the simulations, while the proline-rich 20 residues linker region (LR, 285-304) between them undergoes extensive conformational changes. Inter-domain contacts are also significantly less conserved in the mutant compared to the wild-type. Both a decrease of the inter-domain contacts along with a substantial conformational rearrangement of LR interfere with the proper maturation and folding of the mutant ADAMTS-13, thus impairing its secretion.

  5. Long-term Outcomes of Congenital Cytomegalovirus Infection in Sweden and the United Kingdom

    Science.gov (United States)

    Townsend, Claire L.; Forsgren, Marianne; Ahlfors, Karin; Ivarsson, Sten-Anders; Tookey, Pat A.; Peckham, Catherine S.

    2013-01-01

    Background. Congenital cytomegalovirus (CMV) is an important cause of neurological problems, particularly sensorineural hearing loss, but data on long-term sequelae and the impact of nonprimary maternal infection are limited. We report updated findings on childhood outcomes from 2 large prospective studies. Methods. Pregnant women in Malmö, Sweden, and London, United Kingdom, were included between 1977 and 1986, and newborns were screened for CMV (virus culture of urine or saliva). Cases and matched controls underwent regular, detailed developmental assessments up to at least age 5 years. Results. One hundred seventy-six congenitally infected infants were identified among >50 000 screened (Malmö: 76 [4.6/1000 births]; London: 100 [3.2/1000 births]); 214 controls were selected. Symptoms were recorded in 11% of CMV-infected neonates (19/176) and were mostly mild; only 1 neonate had neurological symptoms. At follow-up, 7% of infants (11/154) were classified as having mild, 5% (7/154) moderate, and 6% (9/154) severe neurological sequelae. Four of 161 controls (2%) had mild impairment. Among children symptomatic at birth, 42% (8/19) had sequelae, versus 14% (19/135) of the asymptomatic infants (P = .006). All moderate/severe outcomes were identified by age 1; mild sequelae were first identified at age 2–5 years in 6 children, and age 6–7 years in 3. Among the 16 children with moderate/severe outcomes, 2 had mothers with confirmed and 7 with presumed nonprimary infection. Conclusions. Moderate or severe outcomes were reported in 11% of children with congenital CMV identified through population screening, all by 1 year; all impairment detected after this age was mild. Nonprimary infections contributed substantially to the burden of childhood congenital CMV disease. PMID:23334811

  6. Genotypic diversity and mixed infection in newborn disease and hearing loss in congenital cytomegalovirus infection.

    Science.gov (United States)

    Pati, Sunil K; Pinninti, Swetha; Novak, Zdenek; Chowdhury, Nazma; Patro, Raj K; Fowler, Karen; Ross, Shannon; Boppana, Suresh

    2013-10-01

    Congenital cytomegalovirus (cCMV) is a common congenital infection and a leading nongenetic cause of sensorineural hearing loss (SNHL). CMV exhibits extensive genetic variability, and infection with multiple CMV strains (mixed infection) was shown to be common in congenital CMV. The role of mixed infections in disease and outcome remains to be defined. Genotyping of envelope glycoproteins, UL55 (gB), UL73 (gN) and UL75 (gH), was performed on saliva specimens of 79 infants from the ongoing CMV and Hearing Multicenter Screening (CHIMES) Study and on blood and urine specimens of 52 infants who participated in natural history studies at the University of Alabama at Birmingham. Genotyping of UL144 and US28 was also performed in the CHIMES cohort. The association of individual genotypes and mixed infection with clinical findings at birth and SNHL was examined. Thirty-seven of 131 infants (28%) were symptomatic at birth and 26 (20%) had SNHL at birth. All known genotypes of UL55, UL75, UL73 and US28 were represented, and no particular genotype was associated with symptomatic infection or SNHL. UL144 subtype C was more common in symptomatic infants but not associated with SNHL. Mixed infection was observed in 59 infants (45%) and not associated with symptoms (P = 0.43) or SNHL at birth (P = 0.82). In the cohort of 52 infants with long-term hearing outcome, mixed infection at birth was not predictive of SNHL. Mixed infection is common in infants with congenital CMV but is neither associated with symptomatic infection nor associated with SNHL.

  7. Results of a Targeted Screening Program for Congenital Cytomegalovirus Infection in Infants Who Fail Newborn Hearing Screening.

    Science.gov (United States)

    Vancor, Emily; Shapiro, Eugene D; Loyal, Jaspreet

    2018-01-24

    Congenital cytomegalovirus (CMV) infection is a major cause of sensorineural hearing loss. By law, newborns in Connecticut who fail newborn hearing screening are tested for infection with CMV. This targeted screening is controversial, because most children with congenital CMV infection are asymptomatic, and CMV-related hearing loss can have a delayed onset. Our hospital uses a saliva polymerase chain reaction (PCR) assay (confirmed by a urine PCR assay) to detect CMV. Here, we report the results of the first year of our screening program. We reviewed the medical records of newborns in the Yale New Haven Health System who failed the newborn hearing screening test between January 1 and December 31, 2016. Of 10964 newborns, 171 failed newborn hearing screening, and 3 of these newborns had positive saliva CMV PCR test results. Of these 3 newborns, 2 had positive results on the confirmatory test (for 1 of them the confirmatory test was not performed until the infant was 10 weeks old), and 1 had a negative result on the confirmatory test. Three additional newborns with congenital CMV infection were tested because of clinical indications (1 for ventriculomegaly on prenatal ultrasound and 2 for CMV infection of the mother). Results of audiology follow-up were available for 149 (87.1%) of the 171 newborns who failed newborn hearing screening; 127 (85.2%) had normal results. Our targeted screening program for congenital CMV infection had a low yield. Consideration should be given to other strategies for identifying children at risk of hearing loss as a result of congenital CMV infection. © The Author(s) 2018. Published by Oxford University Press on behalf of The Journal of the Pediatric Infectious Diseases Society. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  8. Sensorineural hearing loss in Kawasaki disease.

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    Aggarwal, Varun; Etinger, Veronica; Orjuela, Andres F

    2016-01-01

    Kawasaki disease is a common nonspecific vasculitis seen in childhood. The most significant long-term sequela is coronary artery aneurysm. However, the spectrum of complications involves not only the heart, but also other organs such as the eyes, skin, kidneys, gallbladder, liver, and central nervous system. Sensorineural hearing loss (SNHL) is a relatively unrecognized complication of the disease. Although most of the complications (except coronary artery aneurysm) are self-limiting, SNHL can be persistent. It is, especially important in infants and young children who might not be able to report the hearing deficits and are most likely to have cognitive and speech delays if this hearing loss is not addressed in a timely manner. We report a child with Kawasaki disease who had SNHL during the 2(nd) week of the illness. The aim of this article is to briefly review the pathophysiology behind this hearing loss and strongly emphasize the importance of universal hearing evaluation in all children diagnosed with Kawasaki disease. This screening in children with Kawasaki disease may provide some timely intervention if needed. Since most Kawasaki disease patients will be seen by cardiologists, we hope to create more awareness about this complication to the cardiology community as well.

  9. Weather conditions and sudden sensorineural hearing loss

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    Kateri Maria

    2002-07-01

    Full Text Available Abstract Background Climatic or meteorological condition changes have been implicated in the pathogenesis of Idiopathic Sudden Sensorineural Hearing Loss (ISSHL. We investigated the seasonal distribution of ISSHL and evaluated the influence of meteorological parameters (such as temperature, humidity, and atmospheric pressure, their variation and covariation on the incidence of the disease. Methods A total of 82 cases of ISSHL, admitted to our department over a five-year period, were enrolled in the study. Seasonal distribution of the disease was investigated by dividing the year in four seasons. Meteorological data included daily values of 13 distinct parameters recorded at the meteorological station of the University of Ioannina during this period. A relationship between each meteorological variable and the incidence of ISSHL was investigated by applying (χ2 test on data from 13 contingency tables as well as by using logistic regression and t-test approaches. In addition, the influence of different weather types on the incidence of ISSHL was investigated using Cluster Analysis in order to create eight clusters (weather types characteristic for the prefecture of Ioannina. Results The results of the study could not indicate any seasonal distribution of the disease. The incidence of ISSHL could not be significantly correlated either to any distinct meteorological parameter or to any specific weather type. Conclusions Meteorological conditions, such as those dominating in the Northwestern Greece, and/or their changes, have no proven effect on the incidence of ISSHL.

  10. Viral Causes of Hearing Loss: A Review for Hearing Health Professionals

    Science.gov (United States)

    Cohen, Brandon E.; Durstenfeld, Anne

    2014-01-01

    A number of viral infections can cause hearing loss. Hearing loss induced by these viruses can be congenital or acquired, unilateral or bilateral. Certain viral infections can directly damage inner ear structures, others can induce inflammatory responses which then cause this damage, and still others can increase susceptibility or bacterial or fungal infection, leading to hearing loss. Typically, virus-induced hearing loss is sensorineural, although conductive and mixed hearing losses can be seen following infection with certain viruses. Occasionally, recovery of hearing after these infections can occur spontaneously. Most importantly, some of these viral infections can be prevented or treated. For many of these viruses, guidelines for their treatment or prevention have recently been revised. In this review, we outline many of the viruses that cause hearing loss, their epidemiology, course, prevention, and treatment. PMID:25080364

  11. Congenital Abnormalities

    Science.gov (United States)

    ... Stages Ages and Stages Prenatal Baby (0-12 mos.) Toddler 1-3yrs. Preschool 3-5yrs Grade School ... Categories of Congenital Abnormalities Chromosome Abnormalities Chromosomes are structures that carry genetic material inherited from one generation ...

  12. Tracheomalacia - congenital

    Science.gov (United States)

    ... other congenital abnormalities, such as heart defects, developmental delay, or gastroesophageal reflux. Aspiration pneumonia can occur from ... urac.org). URAC's accreditation program is an independent audit to verify that A.D.A.M. follows ...

  13. Congenital Hemolytic Anemia.

    Science.gov (United States)

    Haley, Kristina

    2017-03-01

    Red blood cell (RBC) destruction can be secondary to intrinsic disorders of the RBC or to extrinsic causes. In the congenital hemolytic anemias, intrinsic RBC enzyme, RBC membrane, and hemoglobin disorders result in hemolysis. The typical clinical presentation is a patient with pallor, anemia, jaundice, and often splenomegaly. The laboratory features include anemia, hyperbilirubinemia, and reticulocytosis. For some congenital hemolytic anemias, splenectomy is curative. However, in other diseases, avoidance of drugs and toxins is the best therapy. Supportive care with transfusions are also mainstays of therapy. Chronic hemolysis often results in the formation of gallstones, and cholecystectomy is often indicated. Copyright © 2016 Elsevier Inc. All rights reserved.

  14. Congenital hearing impairment

    International Nuclear Information System (INIS)

    Robson, Caroline D.

    2006-01-01

    Establishing the etiology of congenital hearing impairment can significantly improve treatment for certain causes of hearing loss and facilitates genetic counseling. High-resolution CT and MRI have contributed to the evaluation and management of hearing impairment. In addition, with the identification of innumerable genetic loci and genetic defects involved in hearing loss, genetic testing has emerged as an invaluable tool in the assessment of hearing impairment. Some of the common forms of congenital hearing loss are reviewed and their imaging features illustrated. (orig.)

  15. A Novel Mutation in the CYP11B1 Gene Causes Steroid 11β-Hydroxylase Deficient Congenital Adrenal Hyperplasia with Reversible Cardiomyopathy

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    Mohammad A. Alqahtani

    2015-01-01

    Full Text Available Congenital adrenal hyperplasia (CAH due to steroid 11β-hydroxylase deficiency is the second most common form of CAH, resulting from a mutation in the CYP11B1 gene. Steroid 11β-hydroxylase deficiency results in excessive mineralcorticoids and androgen production leading to hypertension, precocious puberty with acne, enlarged penis, and hyperpigmentation of scrotum of genetically male infants. In the present study, we reported 3 male cases from a Saudi family who presented with penile enlargement, progressive darkness of skin, hypertension, and cardiomyopathy. The elder patient died due to heart failure and his younger brothers were treated with hydrocortisone and antihypertensive medications. Six months following treatment, cardiomyopathy disappeared with normal blood pressure and improvement in the skin pigmentation. The underlying molecular defect was investigated by PCR-sequencing analysis of all coding exons and intron-exon boundary of the CYP11B1 gene. A novel biallelic mutation c.780 G>A in exon 4 of the CYP11B1 gene was found in the patients. The mutation created a premature stop codon at amino acid 260 (p.W260∗, resulting in a truncated protein devoid of 11β-hydroxylase activity. Interestingly, a somatic mutation at the same codon (c.779 G>A, p.W260∗ was reported in a patient with papillary thyroid cancer (COSMIC database. In conclusion, we have identified a novel nonsense mutation in the CYP11B1 gene that causes classic steroid 11β-hydroxylase deficient CAH. Cardiomyopathy and cardiac failure can be reversed by early diagnosis and treatment.

  16. Congenital cataract causing mutants of αA-crystallin/sHSP form aggregates and aggresomes degraded through ubiquitin-proteasome pathway.

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    Ilangovan Raju

    Full Text Available BACKGROUND: Mutations of human αA-crystallin cause congenital cataract by protein aggregation. How mutations of αA-crystallin cause disease pathogenesis through protein aggregation is not well understood. To better understand the cellular events leading to protein aggregation, we transfected cataract causing mutants, R12C, R21L, R21W, R49C, R54C, R116C and R116H, of human αA-crystallin in HeLa cells and examined the formation of intracellular protein aggregates and aggresomes by confocal microscopy. METHODOLOGY/PRINCIPAL FINDINGS: YFP-tagged human αA-wild-type (αA-wt was sub-cloned and the mutants were generated by site-directed mutagenesis. The αA-wt and the mutants were individually transfected or co-transfected with CFP-tagged αA-wt or αB-wild-type (αB-wt in HeLa cells. Overexpression of these mutants forms multiple small dispersed cytoplasmic aggregates as well as aggresomes. Co-expression of αB-wt with these mutants significantly inhibited protein aggregates where as co-expression with αA-wt enhanced protein aggregates which seems to be due to co-aggregation of the mutants with αA-wt. Aggresomes were validated by double immunofluorescence by co-localization of γ-tubulin, a centrosome marker protein with αA-crystallin. Furthermore, increased ubiquitination was detected in R21W, R116C and R116H as assessed by western blot analyses. Immunostaining with an ubiquitin antibody revealed that ubiquitin inclusions in the perinuclear regions were evident only in R116C transfected cells. Pulse chase assay, after cycloheximide treatment, suggested that R116C degraded faster than the wild-type control. CONCLUSIONS/SIGNIFICANCE: Mutants of αA-crystallin form aggregates and aggresomes. Co-expression of αA-wt with the mutants increased aggregates and co-expression of αB-wt with the mutants significantly decreased the aggregates. The mutant, R116C protein degraded faster than wild-type control and increased ubiquitination was evident in R

  17. Congenital syphilis: literature review

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    Eduardo Chaida Sonda

    2013-01-01

    Full Text Available Syphilis is an infectious disease caused by Treponema pallidum and has high rates of vertical transmission, which can reach 100% depending on the maternal disease and stage of pregnancy. The diagnosis of gestational syphilis is simple and its screening is required during the prenatal period. However, this disease still has a high prevalence, affecting two million pregnant women worldwide. The procedures performed in newborns with congenital syphilis represent costs that are three-fold higher than the ones spent with a baby without this infection. The treatment is generally carried out with penicillin and must be extended to sexual partners. Inadequate or lack of treatment of congenital syphilis can result in miscarriage, premature birth, acute complications and other fetal sequelae. KEYWORDS: Congenital syphilis. Treponema pallidum. Vertical transmission.

  18. Congenital cataract screening

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    Zhale Rajavi

    2016-01-01

    Full Text Available Congenital cataract is a leading cause of visual deprivation which can damage the developing visual system of a child; therefore early diagnosis, management and long-term follow-up are essential. It is recommended that all neonates be screened by red reflex examination at birth and suspected cases be referred to ophthalmic centers. Early surgery (1 year is highly recommended. After surgery, amblyopia treatment and periodic follow-up examinations should be started as soon as possible to achieve a satisfactory visual outcome. Practitioners should consider the possibility of posterior capsular opacity, elevated intraocular pressure and amblyopia during follow-up, especially in eyes with microphthalmia and/or associated congenital anomalies. All strabismic children should undergo slit lamp examination prior to strabismus surgery to rule out congenital lens opacities. From a social point of view, equal and fair medical care should be provided to all children regardless of gender.

  19. Idiopathic sudden sensorineural hearing loss: vascular or viral?

    Science.gov (United States)

    Linthicum, Fred H; Doherty, Joni; Berliner, Karen I

    2013-12-01

    To demonstrate that sudden sensorineural hearing loss is possibly of viral origin rather than vascular. The histopathologic morphology in 7 temporal bones with known vascular impairment due to surgical interventions was compared with that of 11 bones with a history of idiopathic sudden sensorineural hearing loss (ISSNHL). Attention was paid to the spiral ligament, stria vascularis, organ of Corti hair cells, tectorial membrane, ganglion cell population, and degree of perilymph fibrosis and the auditory nerve. A temporal bone laboratory that has been in operation for more than 50 years and includes a database consisting of clinical and histopathological information that facilitates quantitative and qualitative analysis. Eight hundred forty-nine individuals who pledged their temporal bones for scientific study, of which 18 were selected for this study by means of the database criteria of sudden sensorineural hearing loss and postmiddle fossa and retro sigmoid sinus tumor removal or vestibular nerve section. Sudden sensorineural hearing loss bones exhibited no perilymph fibrosis compared with 6 of 7 vascular cases with fibrosis (P ≤ .001), exhibited less loss of ganglion cells (P ≤ .026), exhibited greater survival of spiral ligament (P ≤ .029), and averaged twice the survival of hair cells and more widespread tectorial membrane abnormalities. Analysis of human temporal bones from patients with a sudden sensorineural hearing loss does not support a vascular insufficiency but is more suggestive of a viral etiology.

  20. Congenital malaria in China.

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    Zhi-Yong Tao

    2014-03-01

    Full Text Available BACKGROUND: Congenital malaria, in which infants are directly infected with malaria parasites from their mother prior to or during birth, is a potentially life-threatening condition that occurs at relatively low rates in malaria-endemic regions. It is recognized as a serious problem in Plasmodium falciparum-endemic sub-Saharan Africa, where recent data suggests that it is more common than previously believed. In such regions where malaria transmission is high, neonates may be protected from disease caused by congenital malaria through the transfer of maternal antibodies against the parasite. However, in low P. vivax-endemic regions, immunity to vivax malaria is low; thus, there is the likelihood that congenital vivax malaria poses a more significant threat to newborn health. Malaria had previously been a major parasitic disease in China, and congenital malaria case reports in Chinese offer valuable information for understanding the risks posed by congenital malaria to neonatal health. As most of the literature documenting congenital malaria cases in China are written in Chinese and therefore are not easily accessible to the global malaria research community, we have undertaken an extensive review of the Chinese literature on this subject. METHODS/PRINCIPAL FINDINGS: Here, we reviewed congenital malaria cases from three major searchable Chinese journal databases, concentrating on data from 1915 through 2011. Following extensive screening, a total of 104 cases of congenital malaria were identified. These cases were distributed mainly in the eastern, central, and southern regions of China, as well as in the low-lying region of southwest China. The dominant species was P. vivax (92.50%, reflecting the malaria parasite species distribution in China. The leading clinical presentation was fever, and other clinical presentations were anaemia, jaundice, paleness, diarrhoea, vomiting, and general weakness. With the exception of two cases, all patients

  1. Neuro-rehabilitation Approach for Sudden Sensorineural Hearing Loss

    Science.gov (United States)

    Sekiya, Kenichi; Fukushima, Munehisa; Teismann, Henning; Lagemann, Lothar; Kakigi, Ryusuke; Pantev, Christo; Okamoto, Hidehiko

    2016-01-01

    Sudden sensorineural hearing loss (SSHL) is characterized by acute, idiopathic hearing loss. The estimated incidence rate is 5-30 cases per 100,000 people per year. The causes of SSHL and the mechanisms underlying SSHL currently remain unknown. Based on several hypotheses such as a circulatory disturbance to the cochlea, viral infection, and autoimmune disease, pharmaco-therapeutic approaches have been applied to treat SSHL patients; however, the efficacy of the standard treatment, corticosteroid therapy, is still under debate. Exposure to intense sounds has been shown to cause permanent damage to the auditory system; however, exposure to a moderate level enriched acoustic environment after noise trauma may reduce hearing impairments. Several neuroimaging studies recently suggested that the onset of SSHL induced maladaptive cortical reorganization in the human auditory cortex, and that the degree of cortical reorganization in the acute SSHL phase negatively correlated with the recovery rate from hearing loss. This article reports the development of a novel neuro-rehabilitation approach for SSHL, "constraint-induced sound therapy (CIST)". The aim of the CIST protocol is to prevent or reduce maladaptive cortical reorganization by using an enriched acoustic environment. The canal of the intact ear of SSHL patients is plugged in order to motivate them to actively use the affected ear and thereby prevent progress of maladaptive cortical reorganization. The affected ear is also exposed to music via a headphone for 6 hr per day during hospitalization. The CIST protocol appears to be a safe, easy, inexpensive, and effective treatment for SSHL. PMID:26863274

  2. Resolution of Sudden Sensorineural Hearing Loss Following a Roller Coaster Ride

    OpenAIRE

    Kumar, Aman; Sinha, Amrita; Al-Waa, Ahmad M.

    2011-01-01

    We report a case of sudden unilateral sensorineural hearing loss of sudden onset during an aeroplane flight, which completely resolved during a roller coaster ride at Alton Towers theme park. A review of the literature concerning sudden idiopathic sensorineural hearing loss and spontaneous resolution are discussed. Initially, pure-tone audiometry showed a profound sensorineural hearing loss in the right ear and mild sensorineural hearing loss in the left ear (of note, the hearing was normal p...

  3. Genetic and audiologic study in elderly with sensorineural hearing loss.

    Science.gov (United States)

    Martins, Kelly; Fontenele, Marília; Câmara, Silva; Sartorato, Edi Lúcia

    2013-01-01

    This study aimed to correlate probable predisposing factors for sensorineural hearing loss in elderly by investigating the audiologic characteristics and frequency of mutations in genes considered responsible for non-syndromic hearing loss. Sixty elderly patients were separated into two groups: the Case Group, composed of 30 individuals, 21 females and nine males, all 60 years old or older and presenting diagnoses of sensorineural hearing loss, and the Control Group, composed of 30 elderly individuals matched to the experimental group by age and gender, presenting normal hearing. The patients underwent anamnesis and pure tone audiometry in frequencies of 250, 500, 1000, 2000, 3000, 4000 and 6000 Hz. Blood samples were collected from each patient for analysis of mutations in nuclear and mitochondrial genes related to non-syndromic sensorineural hearing loss. It was observed a greater tendency to noise exposure and consumption of alcohol in the Case Group. The statistically significant symptoms between the groups were tinnitus and hearing difficulty in several situations as: silent environment, telephone, television, sound location and in church. All the individuals of Case Group presented sensorineural and bilateral hearing loss. The symmetry and progression of the hearing impairment were also statistically significant between the groups. No genetic mutations were identified. The most reported symptoms were communication difficulties and tinnitus. The predominant auditory characteristics included sensorineural, bilateral, progressive and symmetrical hearing loss. It was not evidenced a relationship between sensorineural hearing loss in elderly and genes considered responsible for non-syndromic hearing loss as no genetic mutation was found in this study.

  4. Disrupted functional brain connectome in unilateral sudden sensorineural hearing loss.

    Science.gov (United States)

    Xu, Haibo; Fan, Wenliang; Zhao, Xueyan; Li, Jing; Zhang, Wenjuan; Lei, Ping; Liu, Yuan; Wang, Haha; Cheng, Huamao; Shi, Hong

    2016-05-01

    Sudden sensorineural hearing loss (SSNHL) is generally defined as sensorineural hearing loss of 30 dB or greater over at least three contiguous audiometric frequencies and within a three-day period. This hearing loss is usually unilateral and can be associated with tinnitus and vertigo. The pathogenesis of unilateral sudden sensorineural hearing loss is still unknown, and the alterations in the functional connectivity are suspected to involve one possible pathogenesis. Despite scarce findings with respect to alterations in brain functional networks in unilateral sudden sensorineural hearing loss, the alterations of the whole brain functional connectome and whether these alterations were already in existence in the acute period remains unknown. The aim of this study was to investigate the alterations of brain functional connectome in two large samples of unilateral sudden sensorineural hearing loss patients and to investigate the correlation between unilateral sudden sensorineural hearing loss characteristics and changes in the functional network properties. Pure tone audiometry was performed to assess hearing ability. Abnormal changes in the peripheral auditory system were examined using conventional magnetic resonance imaging. The graph theoretical network analysis method was used to detect brain connectome alterations in unilateral sudden sensorineural hearing loss. Compared with the control groups, both groups of unilateral SSNHL patients exhibited a significantly increased clustering coefficient, global efficiency, and local efficiency but a significantly decreased characteristic path length. In addition, the primary increased nodal strength (e.g., nodal betweenness, hubs) was observed in several regions primarily, including the limbic and paralimbic systems, and in the auditory network brain areas. These findings suggest that the alteration of network organization already exists in unilateral sudden sensorineural hearing loss patients within the acute period

  5. Effect of antioxidant supplementation on the auditory threshold in sensorineural hearing loss: a meta-analysis.

    Science.gov (United States)

    Souza, Maria Eduarda Di Cavalcanti Alves de; Costa, Klinger Vagner Teixeira da; Vitorino, Paulo Augusto; Bueno, Nassib Bezerra; Menezes, Pedro de Lemos

    2017-08-26

    Hearing loss is conceptualized as any impairment of the ability to hear and/or detect speech or environment sounds, regardless of cause, type, or degree. It may occur at different stages of life; during pregnancy or childbirth, in childhood, adulthood or old age. It should be noted that aging is the most common cause of sensorineural hearing loss followed by noise-induced hearing loss, and both are closely related to the formation of reactive oxygen species. Dietary antioxidant supplementation has been employed as a therapeutic strategy to prevent and/or delay the risks of major human diseases. To assess randomized clinical trials to determine the effect of antioxidant supplementation on the auditory thresholds in patients of different age groups with sensorineural hearing loss. This systematic review consisted of a search in the following databases: MEDLINE, CENTRAL, ScienceDirect, Scopus, Web of Science, LILACS, SciELO and ClinicalTrials.gov. Additionally, the gray literature was also searched. The search strategy included terms related to the intervention (antioxidant supplementation), primary outcome (sensorineural hearing loss), as well as terms related to randomized clinical trials to improve search sensitivity. Based on 977 potentially relevant records identified through the search in the databases, ten full-text publications were retrieved for further evaluation. The increase in threshold at the 4kHz frequency was statistically higher in the control group (1.89 [1.01-2.78], p<0.0001) when compared to the NAC group and the ginseng group, whereas at 6kHz, the threshold increase was higher in the control group (1.42 [-1.14-3.97], p=0.28), but no statistically significant differences were found between groups. Ginseng was the antioxidant agent that showed the best effect in preventing auditory threshold worsening at the frequency of 4kHz, but not at 6kHz in patients with sensorineural hearing loss caused by exposure to high sound pressure levels. There was no

  6. Prognostic Factors in Sudden Sensorineural Hearing Loss

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    Gamze Atay

    2016-02-01

    Full Text Available Background: Sudden sensorineural hearing loss (SSNHL is still a complex and challenging process which requires clinical evidence regarding its etiology, treatment and prognostic factors. Therefore, determination of prognostic factors might aid in the selection of proper treatment modality. Aims: The aim of this study is to analyze whether there is correlation between SSNHL outcomes and (1 systemic steroid therapy, (2 time gap between onset of symptoms and initiation of therapy and (3 audiological pattern of hearing loss. Study Design: Retrospective chart review. Methods: Patients diagnosed at our clinic with SSNHL between May 2005 and December 2011were reviewed. A detailed history of demographic features, side of hearing loss, previous SSNHL and/or ear surgery, recent upper respiratory tract infection, season of admission, duration of symptoms before admission and the presence of co-morbid diseases was obtained. Radiological and audiological evaluations were recorded and treatment protocol was assessed to determine whether systemic steroids were administered or not. Treatment started ≤5 days was regarded as “early” and >5 days as “delayed”. Initial audiological configurations were grouped as “upward sloping”, “downward sloping”, “flat” and “profound” hearing loss. Significant recovery was defined as thresholds improved to the same level with the unaffected ear or improved ≥30 dB on average. Slight recovery was hearing improvement between 10-30dB on average. Hearing recovery less than 10 dB was accepted as unchanged. Results: Among the 181 patients who met the inclusion criteria, systemic steroid was administered to 122 patients (67.4%, whereas 59 (32.6% patients did not have steroids. It was found that steroid administration did not have any statistically significant effect in either recovered or unchanged hearing groups. Early treatment was achieved in 105 patients (58% and 76 patients (42% had delayed treatment

  7. Neonatal diabetes and congenital hyperinsulinism caused by mutations in ABCC8/SUR1 are associated with altered and opposite affinities for ATP and ADP

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    Joseph eBryan

    2015-04-01

    Full Text Available ATP-sensitive K+ (KATP channels composed of potassium inward-rectifier type 6.2 and sulfonylurea receptor type 1 subunits (Kir6.2/SUR14 are expressed in various cells in the brain and endocrine pancreas where they couple metabolic status to membrane potential. In β-cells, increases in cytosolic [ATP/ADP]c inhibit KATP channel activity, leading to membrane depolarization and exocytosis of insulin granules. Mutations in ABCC8 (SUR1 or KCNJ11 (Kir6.2 can result in gain or loss of channel activity and cause neonatal diabetes (ND or congenital hyperinsulinism (CHI, respectively. SUR1 is reported to be a Mg2+-dependent ATPase. A prevailing model posits that ATP hydrolysis at SUR1 is required to stimulate openings of the pore. However, recent work shows nucleotide binding, without hydrolysis, is sufficient to switch SUR1 to stimulatory conformations. The actions of nucleotides, ATP and ADP, on ND (SUR1E1506D and CHI (SUR1E1506K mutants, without Kir6.2, were compared to assess both models. Both substitutions significantly impair hydrolysis in SUR1 homologues. SUR1E1506D has greater affinity for MgATP than wildtype; SUR1E1506K has reduced affinity. Without Mg2+, SUR1E1506K has a greater affinity for ATP4- consistent with electrostatic attraction between ATP4-, unshielded by Mg2+, and the basic lysine. Further analysis of ND and CHI ABCC8 mutants in the second transmembrane and nucleotide binding domains (TMD2 & NBD2, found a relation between their affinities for ATP (± Mg2+ and their clinical phenotype. Increased affinity for ATP is associated with ND; decreased affinity with CHI. In contrast, MgADP showed a weaker relationship. Diazoxide, known to reduce insulin release in some CHI cases, potentiates switching of CHI mutants from non-stimulatory to stimulatory states consistent with diazoxide stabilizing a nucleotide-bound conformation. The results emphasize the greater importance of nucleotide binding vs hydrolysis in the regulation of KATP channels

  8. Deletion of a conserved regulatory element required for Hmx1 expression in craniofacial mesenchyme in the dumbo rat: a newly identified cause of congenital ear malformation

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    Lely A. Quina

    2012-11-01

    Hmx1 is a homeodomain transcription factor expressed in the developing eye, peripheral ganglia, and branchial arches of avian and mammalian embryos. Recent studies have identified a loss-of-function allele at the HMX1 locus as the causative mutation in the oculo-auricular syndrome (OAS in humans, characterized by ear and eye malformations. The mouse dumbo (dmbo mutation, with similar effects on ear and eye development, also results from a loss-of-function mutation in the Hmx1 gene. A recessive dmbo mutation causing ear malformation in rats has been mapped to the chromosomal region containing the Hmx1 gene, but the nature of the causative allele is unknown. Here we show that dumbo rats and mice exhibit similar neonatal ear and eye phenotypes. In midgestation embryos, dumbo rats show a specific loss of Hmx1 expression in neural-crest-derived craniofacial mesenchyme (CM, whereas Hmx1 is expressed normally in retinal progenitors, sensory ganglia and in CM, which is derived from mesoderm. High-throughput resequencing of 1 Mb of rat chromosome 14 from dmbo/dmbo rats, encompassing the Hmx1 locus, reveals numerous divergences from the rat genomic reference sequence, but no coding changes in Hmx1. Fine genetic mapping narrows the dmbo critical region to an interval of ∼410 kb immediately downstream of the Hmx1 transcription unit. Further sequence analysis of this region reveals a 5777-bp deletion located ∼80 kb downstream in dmbo/dmbo rats that is not apparent in 137 other rat strains. The dmbo deletion region contains a highly conserved domain of ∼500 bp, which is a candidate distal enhancer and which exhibits a similar relationship to Hmx genes in all vertebrate species for which data are available. We conclude that the rat dumbo phenotype is likely to result from loss of function of an ultraconserved enhancer specifically regulating Hmx1 expression in neural-crest-derived CM. Dysregulation of Hmx1 expression is thus a candidate mechanism for congenital ear

  9. Deletion of a conserved regulatory element required for Hmx1 expression in craniofacial mesenchyme in the dumbo rat: a newly identified cause of congenital ear malformation

    Science.gov (United States)

    Quina, Lely A.; Kuramoto, Takashi; Luquetti, Daniela V.; Cox, Timothy C.; Serikawa, Tadao; Turner, Eric E.

    2012-01-01

    SUMMARY Hmx1 is a homeodomain transcription factor expressed in the developing eye, peripheral ganglia, and branchial arches of avian and mammalian embryos. Recent studies have identified a loss-of-function allele at the HMX1 locus as the causative mutation in the oculo-auricular syndrome (OAS) in humans, characterized by ear and eye malformations. The mouse dumbo (dmbo) mutation, with similar effects on ear and eye development, also results from a loss-of-function mutation in the Hmx1 gene. A recessive dmbo mutation causing ear malformation in rats has been mapped to the chromosomal region containing the Hmx1 gene, but the nature of the causative allele is unknown. Here we show that dumbo rats and mice exhibit similar neonatal ear and eye phenotypes. In midgestation embryos, dumbo rats show a specific loss of Hmx1 expression in neural-crest-derived craniofacial mesenchyme (CM), whereas Hmx1 is expressed normally in retinal progenitors, sensory ganglia and in CM, which is derived from mesoderm. High-throughput resequencing of 1 Mb of rat chromosome 14 from dmbo/dmbo rats, encompassing the Hmx1 locus, reveals numerous divergences from the rat genomic reference sequence, but no coding changes in Hmx1. Fine genetic mapping narrows the dmbo critical region to an interval of ∼410 kb immediately downstream of the Hmx1 transcription unit. Further sequence analysis of this region reveals a 5777-bp deletion located ∼80 kb downstream in dmbo/dmbo rats that is not apparent in 137 other rat strains. The dmbo deletion region contains a highly conserved domain of ∼500 bp, which is a candidate distal enhancer and which exhibits a similar relationship to Hmx genes in all vertebrate species for which data are available. We conclude that the rat dumbo phenotype is likely to result from loss of function of an ultraconserved enhancer specifically regulating Hmx1 expression in neural-crest-derived CM. Dysregulation of Hmx1 expression is thus a candidate mechanism for congenital

  10. Possible mechanisms for sensorineural hearing loss and deafness in patients with propionic acidemia.

    Science.gov (United States)

    Grünert, S C; Bodi, I; Odening, K E

    2017-02-13

    Propionic acidemia is an inborn error of metabolism caused by deficiency of the mitochondrial enzyme propionyl-CoA carboxylase. Sensorineural deafness and severe hearing loss have been described as long-term complications of this disease, however, the mechanism has not yet been elucidated. We have recently shown by patch clamping experiments and Western blots that acute and chronic effects of accumulating metabolites such as propionic acid, propionylcarnitine and methylcitrate on the KvLQT1/KCNE1 channel complex cause long QT syndrome in patients with propionic acidemia by inhibition of K + flow via this channel. The same KvLQT1/KCNE1 channel complex is expressed in the inner ear and essential for luminal potassium secretion into the endolymphatic space. A disruption of this K + flow results in sensorineural hearing loss or deafness. It can be assumed that acute and chronic effects of accumulating metabolites on the KvLQT1/KCNE1 channel protein may similarly cause the hearing impairment of patients with propionic acidemia.

  11. Positive family history of idiopathic sudden sensorineural hearing loss.

    Science.gov (United States)

    Gäckler, A; Eickelmann, A K; Brors, D; Dazert, S; Epplen, J T; Kunstmann, E

    2010-12-01

    Idiopathic sudden sensorineural hearing loss (ISSNHL) is a heterogenic disease. Multiple factors influencing aetiology and prognosis are discussed. A retrospective clinical characterisation and analysis of family history of ISSNHL patients was performed to investigate influences on the disease. 186 inpatients diagnosed with ISSNHL were characterised by health records and a standardised questionnaire. Audiograms were observed. 75 controls that had never experienced an event of ISSNHL were questioned about family members being affected by ISSNHL. 63.4% of all patients could be assigned to at least one group with similar causes of ISSNHL (noise exposure, positive family history, infectious diseases, hypothyroidism and fibromuscular dysplasia). A positive family history for ISSNHL has not been reported so far. Therefore, we accentuated the characterisation of patients with positive family history. 21.4% affirmed a positive family history. In ten families, at least two family members were reported as ISSNHL patients. In comparison with patients with negative family history, they tend to be younger, experience more events of ISSNHL and show less improvement of hearing abilities under therapeutic treatment (non-significant). Differences intensified between smokers with positive family history and non-smokers with negative family history. Differences concerning average age were statistically significant (p = 0.001). Within 75 controls 11 families were reported with one member being affected by ISSNHL. In the control group we did not detect any family with more than one ISSNHL patient. The results indicated that patients with positive family history tend to have an aggravated course of ISSNHL. Further studies should help to confirm these results and to identify environmental or genetic factors leading to ISSNHL. This might support a better understanding of the aetiology of ISSNHL and offer new possibilities for prevention and therapy.

  12. Anisomorphic cortical reorganization in asymmetric sensorineural hearing loss.

    Science.gov (United States)

    Cheung, Steven W; Atencio, Craig A; Levy, Eliott R J; Froemke, Robert C; Schreiner, Christoph E

    2017-08-01

    Acoustic trauma or inner ear disease may predominantly injure one ear, causing asymmetric sensorineural hearing loss (SNHL). While characteristic frequency (CF) map plasticity of primary auditory cortex (AI) contralateral to the injured ear has been detailed, there is no study that also evaluates ipsilateral AI to compare cortical reorganization across both hemispheres. We assess whether the normal isomorphic mirror-image relationship between the two hemispheres is maintained or disrupted in mild-to-moderate asymmetric SNHL of adult squirrel monkeys. At week 24 after induction of acoustic injury to the right ear, functional organization of the two hemispheres differs in direction and magnitude of interaural CF difference, percentage of recording sites with spectrally nonoverlapping binaural activation, and the concurrence of peripheral and central activation thresholds. The emergence of this anisomorphic cortical reorganization of the two hemispheres is replicated by simulation based on spike timing-dependent plasticity, where 1 ) AI input from the contralateral ear is dominant, 2 ) reestablishment of relatively shorter contralateral ear input timing drives reorganization, and 3 ) only AI contralateral to the injured ear undergoes major realignment of interaural frequency maps that evolve over months. Asymmetric SNHL disrupts isomorphic organization between the two hemispheres and results in relative local hemispheric autonomy, potentially impairing performance of tasks that require binaural input alignment or interhemispheric processing. NEW & NOTEWORTHY Mild-to-moderate hearing loss in one ear and essentially normal hearing in the other triggers cortical reorganization that is different in the two hemispheres. Asymmetry of cochlea sensitivities does not simply propagate to the two auditory cortices in mirror-image fashion. The resulting anisomorphic cortical reorganization may be a neurophysiological basis of clinical deficits in asymmetric hearing loss, such as

  13. Congenital amusias.

    Science.gov (United States)

    Tillmann, B; Albouy, P; Caclin, A

    2015-01-01

    In contrast to the sophisticated music processing reported in the general population, individuals with congenital amusia show deficits in music perception and production. Congenital amusia occurs without brain damage, sensory or cognitive deficits, and has been suggested as a lifelong deficit with genetic origin. Even though recognized for a long time, this disorder has been systematically studied only relatively recently for its behavioral and neural correlates. The currently most investigated hypothesis about the underlying deficits concerns the pitch dimension, notably with impaired pitch discrimination and memory. Anatomic and functional investigations of pitch processing revealed that the amusic brain presents abnormalities in the auditory and inferior frontal cortices, associated with decreased connectivity between these structures. The deficit also impairs processing of pitch in speech material and processing of the time dimension in music for some of the amusic individuals, but does not seem to affect spatial processing. Some studies suggest at least partial dissociation in the disorder between perception and production. Recent studies revealed spared implicit pitch perception in congenital amusia, supporting the power of implicit cognition in the music domain. Current challenges consist in defining different subtypes of congenital amusia as well as developing rehabilitation programs for this "musical handicap." © 2015 Elsevier B.V. All rights reserved.

  14. Congenital Constrictions

    OpenAIRE

    K Pavithran; Ramachandran Nair

    1984-01-01

    A young man having congenital annular constrictions of the legs with lymph-oedema of the left foot below the constriction, webbing of the fingers of both hands, anonychia of two fingers and intrauterine amputation of terminal phalanges of two finger and one big toe is reported.

  15. Congenital Constrictions

    Directory of Open Access Journals (Sweden)

    K Pavithran

    1984-01-01

    Full Text Available A young man having congenital annular constrictions of the legs with lymph-oedema of the left foot below the constriction, webbing of the fingers of both hands, anonychia of two fingers and intrauterine amputation of terminal phalanges of two finger and one big toe is reported.

  16. Neuroradiological imaging in patients with sensorineural hearing loss prior to cochlear implantation; Neuroradiologische Diagnostik bei Patienten mit sensorineuralem Hoerverlust vor Cochlea-Implantation

    Energy Technology Data Exchange (ETDEWEB)

    Biller, A.; Bartsch, A.; Solymosi, L.; Bendszus, M. [Abteilung fuer Neuroradiologie, Universitaet Wuerzburg (Germany); Knaus, C.; Mueller, J. [Klinik und Poliklinik fuer Hals-, Nasen- und Ohrenkranke, Universitaet Wuerzburg (Germany)

    2007-09-15

    Cochlear implantation (CI) is an established technique for enabling speech perception in patients suffering from severe bilateral sensorineural hearing loss (SNHL). Thorough preoperative radiological assessment is essential for correctly evaluating the indication for surgery and safely performing cochlear implantation. CT and conventional and functional MRI are available for radiological assessment. Therefore, knowledge of the most frequent congenital syndromal, non-syndromal, and acquired malformations of inner ear structures is fundamental. This article provides information about imaging techniques prior to CI and relevant malformations of the inner ear. Safety aspects for patients with a cochlear implant undergoing MR imaging are also discussed. (orig.)

  17. Pediatric stapedectomy: does cause of fixation affect outcomes?

    Science.gov (United States)

    Neilan, Ryan E; Zhang, Richard W; Roland, Peter S; Isaacson, Brandon; Lee, Kenneth H; Walter Kutz, J

    2013-07-01

    To compare outcomes of stapedectomy in patients with congenital stapes fixation versus juvenile otosclerosis. A retrospective chart review was performed from January 1, 1999 until January 1, 2011 to identify patients under 18 years old who underwent a stapedectomy. Age, gender, pre- and postoperative audiograms, intraoperative findings including etiology of stapes fixation, prosthesis type, and complications were recorded. Twenty-two children were identified who had undergone a stapedectomy (two patients underwent sequential bilateral surgery) resulting in a total of 24 ears. The cause of fixation included juvenile otosclerosis (n=7) and congenital stapes fixation (n=17). The overall mean pre-operative air-bone gap (ABG) was 34.7 dB (SD: 13.5) compared to a postoperative mean ABG of 9.0 (SD: 9.3) (pdiscrimination score of 80%. Pediatric stapedectomy has comparable results to stapedectomy in adults regardless of the cause of stapes fixation; however, delayed sensorineural hearing loss may be higher in the pediatric population. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

  18. Steroid Use in Idiopathic Sudden Sensorineural Hearing Loss: What ...

    African Journals Online (AJOL)

    Idiopathic sudden sensorineural hearing loss is a disease of unknown etiology. Controversy in the literature argues whether the condition should be treated by steroid therapy. In this case study, a Medline literature search was completed to find out if there is any evidence to support its use in this condition.

  19. Congenital cytomegalovirus infection in an extremely preterm newborn exposed to chemotherapy in utero

    Directory of Open Access Journals (Sweden)

    Clara Preto

    2018-01-01

    Full Text Available Cytomegalovirus (CMV infection is the most frequent congenital infection in developed countries and the main cause of non-hereditary sensorineural deafness.We report the case of a 27-week-old newborn (NB with symptomatic congenital CMV infection. The pregnancy was monitored and CMV seroconversion was detected in the first trimester maternal serum screening. At 10 weeks of gestation the mother was diagnosed with breast carcinoma, submitted to a tumorectomy at 17 weeks and started chemotherapy by the 21st week. CMV fetal infection was confirmed by positive DNA detection in amniotic fluid at 21 weeks of gestation. The mother received valaciclovir therapy from the 22nd week of pregnancy until delivery.The NB was delivered by cesarean section at 27 weeks with a birth weight of 950 g. In the first day of life, the NB suffered severe thrombocytopenia and congenital CMV infection was confirmed by positive PCR for CMV DNA in both urine and blood samples. The NB completed six weeks of ganciclovir treatment with progressive clinical and analytical recovery. Auditory evoked potentials were absent in the left ear. On the 84th day of life, the infant, due to clinical and laboratory assessments deterioration, started valganciclovir, completing a total of 6 months of treatment. Currently, at 36 months, the infant presents an appropriate development for the corrected age and has no indication for cochlear implantation. The authors intend to point out the difficulty of treating this infection associated with a high morbimortality, as there is no definitive evidence about the potential benefit of fetal infection treatment during pregnancy, the evidences regarding the effectiveness of antiviral therapy in NB refer to a restricted group of NBs, and this therapy may be associated with important side effects. In this case, the existence of other factors that increase the NB vulnerability and potential sequelae make decisions even more difficult.

  20. Congenital hypothyroidism presenting with postpartum bradycardia

    International Nuclear Information System (INIS)

    Kara, S.; Tayman, C.; Tonbul, A.; Tatli, M.; Andiran, N.; Turkay, S.

    2013-01-01

    Congenital hypothyroidism is a clinical condition characterized by lack of thyroid hormone because of thyroid gland developmental and thyroid hormone biosynthesis disorders. The most common cause of permanent hypothyroidism is congenital factors. Prompt diagnosis is critical. However, overt signs of hypothyroidism are rarely present at birth, and 95% of affected babies are asymptomatic. Hypoxemia, apnea, acidosis, increased intracranial pressure, vagal stimulus and central nerve system abnormalities represent the most common causes of bradycardia in the neonate. Bradycardia associated with congenital hypothyroidism is very rare. In this paper, a case of severe congenital hypothyroidism, induced by maternal blocker antibodies, who presented with bradycardia, is reported. (author)

  1. Cochlear Homocysteine Metabolism at the Crossroad of Nutrition and Sensorineural Hearing Loss

    Directory of Open Access Journals (Sweden)

    Isabel Varela-Nieto

    2017-04-01

    Full Text Available Hearing loss (HL is one of the most common causes of disability, affecting 360 million people according to the World Health Organization (WHO. HL is most frequently of sensorineural origin, being caused by the irreversible loss of hair cells and/or spiral ganglion neurons. The etiology of sensorineural HL (SNHL is multifactorial, with genetic and environmental factors such as noise, ototoxic substances and aging playing a role. The nutritional status is central in aging disability, but the interplay between nutrition and SNHL has only recently gained attention. Dietary supplementation could therefore constitute the first step for the prevention and potential repair of hearing damage before it reaches irreversibility. In this context, different epidemiological studies have shown correlations among the nutritional condition, increased total plasma homocysteine (tHcy and SNHL. Several human genetic rare diseases are also associated with homocysteine (Hcy metabolism and SNHL confirming this potential link. Accordingly, rodent experimental models have provided the molecular basis to understand the observed effects. Thus, increased tHcy levels and vitamin deficiencies, such as folic acid (FA, have been linked with SNHL, whereas long-term dietary supplementation with omega-3 fatty acids improved Hcy metabolism, cell survival and hearing acuity. Furthermore, pharmacological supplementations with the anti-oxidant fumaric acid that targets Hcy metabolism also improved SNHL. Overall these results strongly suggest that cochlear Hcy metabolism is a key player in the onset and progression of SNHL, opening the way for the design of prospective nutritional therapies.

  2. Cochlear Homocysteine Metabolism at the Crossroad of Nutrition and Sensorineural Hearing Loss

    Science.gov (United States)

    Partearroyo, Teresa; Vallecillo, Néstor; Pajares, María A.; Varela-Moreiras, Gregorio; Varela-Nieto, Isabel

    2017-01-01

    Hearing loss (HL) is one of the most common causes of disability, affecting 360 million people according to the World Health Organization (WHO). HL is most frequently of sensorineural origin, being caused by the irreversible loss of hair cells and/or spiral ganglion neurons. The etiology of sensorineural HL (SNHL) is multifactorial, with genetic and environmental factors such as noise, ototoxic substances and aging playing a role. The nutritional status is central in aging disability, but the interplay between nutrition and SNHL has only recently gained attention. Dietary supplementation could therefore constitute the first step for the prevention and potential repair of hearing damage before it reaches irreversibility. In this context, different epidemiological studies have shown correlations among the nutritional condition, increased total plasma homocysteine (tHcy) and SNHL. Several human genetic rare diseases are also associated with homocysteine (Hcy) metabolism and SNHL confirming this potential link. Accordingly, rodent experimental models have provided the molecular basis to understand the observed effects. Thus, increased tHcy levels and vitamin deficiencies, such as folic acid (FA), have been linked with SNHL, whereas long-term dietary supplementation with omega-3 fatty acids improved Hcy metabolism, cell survival and hearing acuity. Furthermore, pharmacological supplementations with the anti-oxidant fumaric acid that targets Hcy metabolism also improved SNHL. Overall these results strongly suggest that cochlear Hcy metabolism is a key player in the onset and progression of SNHL, opening the way for the design of prospective nutritional therapies. PMID:28487633

  3. Congenital syphilis: literature review

    OpenAIRE

    Eduardo Chaida Sonda; Felipe Farias Richter; Graziela Boschetti; Marcela Pase Casasola; Candice Franke Krumel; Cristiane Pimentel Hernandes Machado

    2013-01-01

    Syphilis is an infectious disease caused by Treponema pallidum and has high rates of vertical transmission, which can reach 100% depending on the maternal disease and stage of pregnancy. The diagnosis of gestational syphilis is simple and its screening is required during the prenatal period. However, this disease still has a high prevalence, affecting two million pregnant women worldwide. The procedures performed in newborns with congenital syphilis represent costs that are three-fold higher ...

  4. [Identification of risk factors for congenital malformations].

    Science.gov (United States)

    Canals C, Andrea; Cavada C, Gabriel; Nazer H, Julio

    2014-11-01

    The relative importance of congenital malformations as a cause of death in the first year of life is increasing along with the control of preventable causes of perinatal mortality. To identify risk factors for congenital malformations. Retrospective case-control study of births registered in the database of The Latin American Collaborative Study of Congenital Malformations (ECLAMC), in the period 2001-2010. Birth weight and gestational age were significantly lower in cases than controls, behaving as risk factors and associated with a greater severity of congenital malformations. The risk and severity of congenital malformations increased along with mother's age. Fetal growth retardation, a history of congenital malformations in the family, physical factors and acute illnesses of the mother in the first trimester of pregnancy were also significant risk factors for congenital malformations and their severity. The educational level of the mother was a protective factor for congenital malformations and their severity. Variables previously identified as risk factors for congenital malformations, were significantly related with the occurrence of congenital malformations and their severity.

  5. Coronary artery bypass grafting and sensorineural hearing loss, a cohort study

    Directory of Open Access Journals (Sweden)

    Ashraf Omer

    2005-12-01

    Full Text Available Abstract Background Sudden sensorineural hearing loss is routinely encountered by the otologist. The etiology is varied and often identifiable. One of the relatively less frequent causes is surgery. Apart from being an established entity with otological surgeries, sensorineural hearing loss has also been known to occur after non-otological procedures under general anesthesia. Commonest amongst these procedures is cardiopulmonary bypass, an association that has long been recognized. However, despite the proposition of diverse hypotheses in the past, the pathophysiology remains unclear. Methods The study is a prospective matched cohort study that will be carried out in Aga Khan University Hospital, Karachi, Pakistan. Participants among exposed would include all those patients who would be undergoing coronary artery bypass surgery in the hospital who fall under the criteria for inclusion. Unexposed group would comprise of patients undergoing a non-bypass procedure of similar duration under the same type of anesthesia who meet the selection criteria. Both these groups will undergo audiometric testing at our hospital on three different occasions during the course of this study. Initially before the procedure to test the baseline hearing capacity; then one week after the procedure to assess any changes in hearing ability following the surgery; and finally a third audiogram at six weeks follow-up to assess further changes in any hearing deficits noted during the second phase of testing. Certain variables including the subjects' demographics and those concerning the procedure itself will be noted and used later for risk factors analysis. A detailed past medical and surgical history will also be obtained. Data analysis would include calculation of relative risk and significance of the results, by running the chi-square test. Other statistical tests like Fisher exact test may then be employed to facilitate data interpretation. Continuous scale may then be

  6. A case of congenital spinal muscular atrophy with pain due to a mutation in TRPV4.

    Science.gov (United States)

    Fleming, Jason; Quan, Dianna

    2016-12-01

    We present a patient with congenital spinal muscular atrophy associated with pain, subjective sensory loss, right talipes equinovarus, delayed walking, and progressive gait impairment. A sister and niece reportedly had Charcot-Marie-Tooth 1A, but the patient's electromyogram showed an axonal motor neuropathy or neuronopathy. We identified a c.806G>A TRPV4 gene mutation causing an Arg269His amino acid substitution. TRPV4 mutations cause variable phenotypes including axonal sensorimotor neuropathy and motor neuropathy or neuronopathy. Associated features may include arthrogryposis, skeletal dysplasia, vocal cord paresis, sensorineural hearing loss and respiratory weakness. Skeletal X-rays can identify orthopedic causes of pain in patients with TRPV4 mutations, and imaging evidence of bone deformities in patients with suspected hereditary axonal neuropathy, pain and an unknown genetic diagnosis may help lead to a diagnosis of a TRPV4 mutation. Even when a patient's genetic diagnosis is presumed to be known, electrodiagnostic testing is warranted to verify the diagnosis. Copyright © 2016 Elsevier B.V. All rights reserved.

  7. Congenital diplopodia

    International Nuclear Information System (INIS)

    Brower, Jason S.; Wootton-Gorges, Sandra L.; Costouros, John G.; Boakes, Jennette; Greenspan, Adam

    2003-01-01

    Diplopodia, or duplicated foot, is a rare congenital anomaly. It differs from polydactyly in that supernumerary metatarsal and tarsal bones are present as well as extra digits. Only a few cases of this anomaly have been reported in the literature to date. We present a newborn male without intrauterine teratogen exposure who was born with a duplicate foot of the left lower extremity and imperforate anus. (orig.)

  8. Congenital Hydrocephalus.

    Science.gov (United States)

    Estey, Chelsie M

    2016-03-01

    There are several types of hydrocephalus, which are characterized based on the location of the cerebrospinal fluid (CSF) accumulation. Physical features of animals with congenital hydrocephalus may include a dome-shaped skull, persistent fontanelle, and bilateral ventrolateral strabismus. Medical therapy involves decreasing the production of CSF. The most common surgical treatment is placement of a ventriculoperitoneal shunt. Postoperative complications may include infection, blockage, drainage abnormalities, and mechanical failure. Copyright © 2016 Elsevier Inc. All rights reserved.

  9. Congenital toxoplasmosis.

    Science.gov (United States)

    Kieffer, François; Wallon, Martine

    2013-01-01

    Congenital toxoplasmosis results from the transplacental transmission of the parasite Toxoplasma gondii after a maternal infection acquired in pregnancy. Prevalence of congenital infection ranges from 0.1 to 0.3 per 1000 live births. The maternal-fetal transmission rate increases with gestational age at maternal seroconversion, from less than 15% at 13 weeks of gestation to over 70% at 36 weeks. Conversely, the later the maternal infection, the lower the risk of symptomatic congenital infection (infections acquired during the third trimester are most often asymptomatic at birth). Prenatal diagnosis is currently performed by PCR analysis in amniotic fluid. Antenatal management and treatment vary considerably among countries. In some European countries, maternal infections are detected through serological screening allowing a prompt treatment with spiramycin, which is expected to reduce the risk of vertical transmission. If PCR analysis in amniotic fluid is positive or if maternal infection was acquired in the third trimester of pregnancy, a combination with pyrimethamine and sulphonamide is given until delivery. Benefits of antenatal treatments remain controversial. Infected newborns are prescribed pyrimethamine and sulphonamide for 12 months. Despite antenatal and postnatal treatment, chorioretinitis can occur at any age (prevalence>20% at 10 years of age): long-term ophthalmological follow-up remains necessary. Copyright © 2013 Elsevier B.V. All rights reserved.

  10. Congenital pseudoarthrosis associated with venous malformation

    International Nuclear Information System (INIS)

    Al-Hadidy, A.; Haroun, A.; Al-Ryalat, N.; Hamamy, H.; Al-Hadidi, S.

    2007-01-01

    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. (orig.)

  11. Congenital pseudoarthrosis associated with venous malformation

    Energy Technology Data Exchange (ETDEWEB)

    Al-Hadidy, A.; Haroun, A.; Al-Ryalat, N. [Jordan University Hospital, Radiology Department, P.O. Box 340621, Amman (Jordan); Hamamy, H. [Endocrinology and Genetics, National Center for Diabetes, Amman (Jordan); Al-Hadidi, S. [Jordan University Hospital, Departments of Orthopedics, Amman (Jordan)

    2007-06-15

    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. (orig.)

  12. Waardenburg syndrome: a rare cause of inherited neuropathy due to SOX10 mutation.

    Science.gov (United States)

    Bogdanova-Mihaylova, Petya; Alexander, Michael D; Murphy, Raymond P J; Murphy, Sinéad M

    2017-09-01

    Waardenburg syndrome (WS) is a rare disorder comprising sensorineural deafness and pigmentation abnormalities. Four distinct subtypes are defined based on the presence or absence of additional symptoms. Mutations in six genes have been described in WS. SOX10 mutations are usually associated with a more severe phenotype of WS with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, and Hirschsprung disease. Here we report a 32-year-old man with a novel heterozygous missense variant in SOX10 gene, who presented with congenital deafness, Hirschsprung disease, iris heterochromia, foot deformity, and intermediate conduction velocity length-dependent sensorimotor neuropathy. This case highlights that the presence of other non-neuropathic features in a patient with presumed hereditary neuropathy should alert the clinician to possible atypical rare causes. © 2017 Peripheral Nerve Society.

  13. Congenital broncho-oesophageal fistula

    African Journals Online (AJOL)

    1983-04-09

    Apr 9, 1983 ... A case of broncho-oesophageal fistula causing bronchiectasis of the left· lung is reported. Oesophagorespiratory fistulas without atresia of the oesophagus often have an insidious clinical course and most commonly present in adulthood. This rare congenital anomaly should be considered as a cause of ...

  14. Perspectives for the treatment of sensorineural hearing loss by cellular regeneration of the inner ear.

    Science.gov (United States)

    Almeida-Branco, Mario S; Cabrera, Sonia; Lopez-Escamez, Jose A

    2015-01-01

    Sensorineural hearing loss is a caused by the loss of the cochlear hair cells with the consequent deafferentation of spiral ganglion neurons. Humans do not show endogenous cellular regeneration in the inner ear and there is no exogenous therapy that allows the replacement of the damaged hair cells. Currently, treatment is based on the use of hearing aids and cochlear implants that present different outcomes, some difficulties in auditory discrimination and a limited useful life. More advanced technology is hindered by the functional capacity of the remaining spiral ganglion neurons. The latest advances with stem cell therapy and cellular reprogramming have developed several possibilities to induce endogenous regeneration or stem cell transplantation to replace damaged inner ear hair cells and restore hearing function. With further knowledge of the cellular and molecular biology of the inner ear and its embryonic development, it will be possible to use induced stem cells as in vitro models of disease and as replacement cellular therapy. Investigation in this area is focused on generating cellular therapy with clinical use for the treatment of profound sensorineural hearing loss. Copyright © 2014 Elsevier España, S.L.U. and Sociedad Española de Otorrinolaringología y Patología Cérvico-Facial. All rights reserved.

  15. Characteristics and application of inner ear CT in 20 cases of sensorineural hearing loss in children.

    Science.gov (United States)

    Huo, Liang; Wang, Hua

    2012-12-01

    This study shows that a number of children with sensorineural hearing loss (SNHL) have inner ear malformations demonstrated by multi-slice spiral computed tomography (MSCT). MSCT allows a comprehensive assessment of various congenital inner ear malformations through high quality multiplanar reformation (MPR) and can display the site and degree of the malformation three-dimensionally and intuitively. This is very useful for cochlear implantation. To evaluate the feasibility and usability of MSCT in pediatric SNHL with inner ear malformations. Sixty-five patients were diagnosed with SNHL by brainstem auditory evoked response (BAER). Inner ear MSCT scan and coronal MPR reconstruction were performed in all cases. This study demonstrated 20 cases (33 ears) with inner ear malformations, which included 10 ears with cochlear malformations, 7 with vestibular malformations, 5 with semicircular canal malformations, 8 with internal auditory canal (IAC) malformations, and 15 with vestibular malformations. Cochlear malformations included one ear with Michel deformity, two ears with common cavity deformity, one with cochlear aplasia, one with hypoplastic cochlea, two with incomplete partition type I, and three with incomplete partition type II (Mondini deformity).

  16. Successful treatment of sudden sensorineural hearing loss by means of pharmacotherapy combined with early hyperbaric oxygen therapy: Case report.

    Science.gov (United States)

    Olex-Zarychta, Dorota

    2017-12-01

    According to the World Health Organization reports, adult-onset hearing loss is the 15th leading cause of burden of disease, and is projected to move up to 7th by the year 2030, especially in high-income countries. Sudden sensorineural hearing loss is considered by otologists as a true otologic emergency. The current standard treatment for sudden hearing loss is a tapered course of oral high-dose corticosteroids. The described clinical case points to the validity of undertaking early hyperbaric oxygenation (HBO) therapy together with corticosteroids for full recovery of adult onset idiopathic sudden sensorineural hearing loss. A 44-year-old woman complained of an abrupt hearing deterioration in the left ear with the sensation of aural fullness and loud tinnitus presented for 48 hours. The patient was admitted to the Department of Otolaryngology of Public Hospital for diagnosis and treatment. The patient was diagnosed with unilateral sudden idiopathic sensorineural hearing loss, assessed by measuring the tonal audiograms. The patient received treatment including oral high-dose corticosteroids combined with HBO protocol including 15 daily 1-hour exposures to 100% oxygen at 2.5 atmosphere absolute. A pharmacotherapy combined with early HBO resulted in full recovery of hearing. Early implementation of HBO to the pharmacotherapy in sudden sensorineural hearing loss may lead to full recovery of hearing. There is a need for systematic research to establish guidelines for optimal number of HBO sessions in relation to the timeframe from hearing loss symptoms onset to implementation of HBO therapy. Copyright © 2017 The Authors. Published by Wolters Kluwer Health, Inc. All rights reserved.

  17. Radiological quiz. Sudden sensorineural hearing loss due to multiple sclerosis.

    Science.gov (United States)

    Cabbarzade, Cavid; Özgen, Burçe; Sennaroglu, Levent

    2014-01-01

    A case with sudden sensorineural hearing loss (SSNHL) owing to multiple sclerosis (MS) who had clinical and dramatic radiological improvement just after medical therapy was reported in this article. Case report and review of related literature. A 22-year-old female patient with MS related SSNHL was presented in this article. Magnetic resonance imaging (MRI) revealed an MS plaque localized at pons extending from right cochlear nucleus to proximal part of the right cochlear nerve. Most dramatic recovery was present in the 5th day control MRI, where the plaque located on pons disappeared completely. On the 10th day control audiogram hearing recovery was observed and pure tone audiogram levels were almost normal. Sudden sensorineural hearing loss owing to MS is seen more common than expected. It has good prognosis. Magnetic resonance imaging is also thought to have an important role in diagnosis and treatment efficacy of SSNHL owing to MS. Published by Elsevier Urban & Partner Sp. z.o.o.

  18. Pediatric unilateral sensorineural hearing loss: implications and management.

    Science.gov (United States)

    Dornhoffer, James R; Dornhoffer, John L

    2016-12-01

    The purpose of this review is to summarize current studies detailing the impact of unilateral sensorineural hearing loss in children and the most current modalities of treatment used in its management. Current studies corroborate historic views on the impact of unilateral sensorineural hearing loss on patient wellbeing and academic success and stress the use of additional surveillance and studies to diagnose those patients that may pass standard screening practices and suffer from lack of prompt and proper care. With respect to management, notable findings include the continuous development of improved conventional and contralateral routing of signal amplification devices that may act to provide alternatives to percutaneous bone-anchored hearing aid implantation. These include improvements in more conventional hearing aid technology, so as to bridge the performance gap with the classical bone-anchored hearing aid implant, and the development of partially implanted transcutaneous bone conduction hearing devices. Due to dissatisfaction with sound localization, a new and significant development is the burgeoning accumulation of research on cochlear implantation for the treatment of unilateral sensorineural hearing loss in children. With advances in technology in historic modalities of treatment, and the advent of new modalities such as cochlear implantation, the clinician has a wide armamentarium by which to provide treatment to patients based on clinical circumstances and patient desires.

  19. Pediatric Idiopathic Intracranial Hypertension Presenting With Sensorineural Hearing Loss.

    Science.gov (United States)

    Reitsma, Sietze; Stokroos, Robert; Weber, Jacobiene W; van Tongeren, Joost

    2015-12-01

    To present the rare case of a young boy with idiopathic intracranial hypertension presenting with bilateral sensorineural hearing loss developing over several months. This was accompanied by headaches, otalgia, tinnitus, and vertigo. Furthermore, we aim to provide a concise review on this matter, as this report represents the second case in literature of pediatric idiopathic intracranial hypertension presenting with hearing loss. Workup of a 9-year-old boy with bilateral sensorineural hearing loss, including (among others) physical examination, audiometry, diagnostic imaging, and lumbar puncture. Physical examination including fundoscopy as well as imaging showed no abnormalities. At presentation, pure tone audiometry revealed bone conduction thresholds of about 30 dB HL in both ears. Two months later, this declined to about 35 dB HL in both ears. Lumbar puncture revealed an increased intracranial pressure. The boy was thus diagnosed with idiopathic intracranial hypertension. After the lumbar puncture, the otological complaints gradually resolved, and the hearing normalized (bone conduction thresholds of 0-5 dB HL). Although rare, sensorineural hearing loss in the pediatric population together with otalgia, tinnitus, and vertigo can be due to idiopathic intracranial hypertension and as such can be reversible. © The Author(s) 2015.

  20. Congenital malformations among newborns in Kenya | Muga ...

    African Journals Online (AJOL)

    Available literature suggests that congenital malformations are a major cause of prenatal infant deaths and postnatal physical defects [1, 2]. Therefore, a study was conducted to determine the patterns and incidence of congenital malformations at birth in newborns in Kenya and thereby analyze associated predisposing ...

  1. Congenital segmental dilatation of the colon

    African Journals Online (AJOL)

    Congenital segmental dilatation of the colon is a rare cause of intestinal obstruction in neonates. We report a case of congenital segmental dilatation of the colon and highlight the clinical, radiological, and histopathological features of this entity. Proper surgical treatment was initiated on the basis of preoperative radiological ...

  2. Congenital and perinatal cytomegalovirus infection

    Directory of Open Access Journals (Sweden)

    Chun Soo Kim

    2010-01-01

    Full Text Available Cytomegalovirus (CMV is currently the most common agent of congenital infection and the leading infectious cause of brain damage and hearing loss in children. Symptomatic congenital CMV infections usually result from maternal primary infection during early pregnancy. One half of symptomatic infants have cytomegalic inclusion disease (CID, which is characterized by involvement of multiple organs, in particular, the reticuloendothelial and central nervous system (CNS. Moreover, such involvement may or may not include ocular and auditory damage. Approximately 90% of infants with congenital infection are asymptomatic at birth. Preterm infants with perinatal CMV infection can have symptomatic diseases such as pneumonia, hepatitis, and thrombocytopenia. Microcephaly and abnormal neuroradiologic imaging are associated with a poor prognosis. Hearing loss may occur in both symptomatic and asymptomatic infants with congenital infection and may progress through childhood. Congenital infection is defined by the isolation of CMV from infants within the first 3 weeks of life. Ganciclovir therapy can be considered for infants with symptomatic congenital CMV infection involving the CNS. Pregnant women of seronegative state should be counseled on the importance of good hand washing and other control measures to prevent CMV infection. Heat treatment of infected breast milk at 72?#608;for 5 seconds can eliminate CMV completely.

  3. Congenital obstructive posterior urethral membranes and recurrent urinary tract infection: a rare case of congenital hypertrophy of the verumontanum

    Directory of Open Access Journals (Sweden)

    Diana Bancin

    2015-03-01

    Full Text Available Congenital obstructive posterior urethral membranes (COPUM is a complex disease closely related to several pathological changes in kidney development and function, as a result of urinary reflux since in utero. This congenital anomaly of urinary tract potentially causes hydroureteronephrosis that is often associated with recurrent urinary tract infections and, ultimately, one of the most common causes of end-stage renal disease in children.1,2 Congenital hypertrophy of the verumontanum as part of COPUM is very rare. Only a few reports have been written on congenital hypertrophy of the vermontanum causing congenital obstructive uropathy.3-6

  4. Sudden sensorineural hearing loss as the first manifestation of chronic myeloid leukaemia: case report.

    Science.gov (United States)

    Diao, M; Tian, F; Sun, J

    2014-11-01

    Sudden sensorineural hearing loss rarely occurs in patients with chronic myeloid leukaemia. We present a case report of a patient who presented with sudden sensorineural hearing loss as the first manifestation of chronic myeloid leukaemia, and review the mechanisms responsible for sudden sensorineural hearing loss in leukaemic patients. A 31-year-old female presented to our clinic with unilateral sudden sensorineural hearing loss and tinnitus. Pure tone audiometry revealed profound sensorineural hearing loss in the left ear at all frequencies. During an investigation into her hearing loss, the patient was found to have chronic myeloid leukaemia. Every case of sudden sensorineural hearing loss must be carefully evaluated, and haematological disorders must be considered in the differential diagnosis of sudden hearing loss.

  5. Primary Congenital Glaucoma in Kano, Northern Nigeria | Lawan ...

    African Journals Online (AJOL)

    Primary congenital glaucoma is one of the causes of childhood blindness and it appears to be common in our environment. This study evaluated the pattern of presentation and management of primary congenital glaucoma in children. This was a prospective questionnaire-based study of primary congenital glaucoma

  6. Congenital Amputation Involving the Hands and Feet: A Case Report

    African Journals Online (AJOL)

    There were forefoot amputations on both lower limbs. Scars were noticed over the amputation stumps with no associated congenital anomaly. Conclusion: Congenital amputation involving all limbs as an isolated entity is a rare condition; the cause of which is probably as a result of congenital amniotic bands. Keywords: ...

  7. A systematic review of trends and patterns of congenital heart ...

    African Journals Online (AJOL)

    Background: Congenital heart diseases cause significant childhood morbidity and mortality. Several restricted studies have been conducted on the epidemiology in Nigeria. No truly nationwide data on patterns of congenital heart disease exists. Objectives: To determine the patterns of congenital heart disease in children in ...

  8. A systematic review of trends and patterns of congenital heart ...

    African Journals Online (AJOL)

    Abstract. Background: Congenital heart diseases cause significant childhood morbidity and mortality. Several restricted studies have been conducted on the epidemiology in Nigeria. No truly nationwide data on patterns of congenital heart disease exists. Objectives: To determine the patterns of congenital heart disease in ...

  9. The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease.

    Science.gov (United States)

    Davignon, Laurianne; Chauveau, Claire; Julien, Cédric; Dill, Corinne; Duband-Goulet, Isabelle; Cabet, Eva; Buendia, Brigitte; Lilienbaum, Alain; Rendu, John; Minot, Marie Christine; Guichet, Agnès; Allamand, Valérie; Vadrot, Nathalie; Fauré, Julien; Odent, Sylvie; Lazaro, Leïla; Leroy, Jean Paul; Marcorelles, Pascale; Dubourg, Odile; Ferreiro, Ana

    2016-04-15

    Despite recent progress in the genetic characterization of congenital muscle diseases, the genes responsible for a significant proportion of cases remain unknown. We analysed two branches of a large consanguineous family in which four patients presented with a severe new phenotype, clinically marked by neonatal-onset muscle weakness predominantly involving axial muscles, life-threatening respiratory failure, skin abnormalities and joint hyperlaxity without contractures. Muscle biopsies showed the unreported association of multi-minicores, caps and dystrophic lesions. Genome-wide linkage analysis followed by gene and exome sequencing in patients identified a homozygous nonsense mutation in TRIP4 encoding Activating Signal Cointegrator-1 (ASC-1), a poorly characterized transcription coactivator never associated with muscle or with human inherited disease. This mutation resulted in TRIP4 mRNA decay to around 10% of control levels and absence of detectable protein in patient cells. ASC-1 levels were higher in axial than in limb muscles in mouse, and increased during differentiation in C2C12 myogenic cells. Depletion of ASC-1 in cultured muscle cells from a patient and in Trip4 knocked-down C2C12 led to a significant reduction in myotube diameter ex vivo and in vitro, without changes in fusion index or markers of initial myogenic differentiation. This work reports the first TRIP4 mutation and defines a novel form of congenital muscle disease, expanding their histological, clinical and molecular spectrum. We establish the importance of ASC-1 in human skeletal muscle, identify transcriptional co-regulation as novel pathophysiological pathway, define ASC-1 as a regulator of late myogenic differentiation and suggest defects in myotube growth as a novel myopathic mechanism. © The Author 2016. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  10. Thiol/disulphide homeostasis as a novel indicator of oxidative stress in sudden sensorineural hearing loss.

    Science.gov (United States)

    Dinc, M E; Ulusoy, S; Is, A; Ayan, N N; Avincsal, M O; Bicer, C; Erel, O

    2016-05-01

    To investigate a novel oxidative stress marker, thiol/disulphide literature homeostasis, in patients with idiopathic sudden sensorineural hearing loss, and to compare the results with healthy controls for the first time. Thirty-two patients with idiopathic sudden sensorineural hearing loss and 30 healthy individuals were included in the study. Serum native thiol, total thiol and disulphide levels were measured, and disulphide/native thiol and disulphide/total thiol ratios were determined in all subjects. Serum native thiol and total thiol levels were significantly lower in patients with sudden sensorineural hearing loss compared with controls (p sudden sensorineural hearing loss in those patients.

  11. The genetic landscape of familial congenital hydrocephalus.

    Science.gov (United States)

    Shaheen, Ranad; Sebai, Mohammed Adeeb; Patel, Nisha; Ewida, Nour; Kurdi, Wesam; Altweijri, Ikhlass; Sogaty, Sameera; Almardawi, Elham; Seidahmed, Mohammed Zain; Alnemri, Abdulrahman; Madirevula, Sateesh; Ibrahim, Niema; Abdulwahab, Firdous; Hashem, Mais; Al-Sheddi, Tarfa; Alomar, Rana; Alobeid, Eman; Sallout, Bahauddin; AlBaqawi, Badi; AlAali, Wajeih; Ajaji, Nouf; Lesmana, Harry; Hopkin, Robert J; Dupuis, Lucie; Mendoza-Londono, Roberto; Al Rukban, Hadeel; Yoon, Grace; Faqeih, Eissa; Alkuraya, Fowzan S

    2017-06-01

    Congenital hydrocephalus is an important birth defect, the genetics of which remains incompletely understood. To date, only 4 genes are known to cause Mendelian diseases in which congenital hydrocephalus is the main or sole clinical feature, 2 X-linked (L1CAM and AP1S2) and 2 autosomal recessive (CCDC88C and MPDZ). In this study, we aimed to determine the genetic etiology of familial congenital hydrocephalus with the assumption that these cases represent Mendelian forms of the disease. Exome sequencing combined, where applicable, with positional mapping. We identified a likely causal mutation in the majority of these families (21 of 27, 78%), spanning 16 genes, none of which is X-linked. Ciliopathies and dystroglycanopathies were the most common etiologies of congenital hydrocephalus in our cohort (19% and 26%, respectively). In 1 family with 4 affected members, we identified a homozygous truncating variant in EML1, which we propose as a novel cause of congenital hydrocephalus in addition to its suggested role in cortical malformation. Similarly, we show that recessive mutations in WDR81, previously linked to cerebellar ataxia, mental retardation, and disequilibrium syndrome 2, cause severe congenital hydrocephalus. Furthermore, we confirm the previously reported candidacy of MPDZ by presenting a phenotypic spectrum of congenital hydrocephalus associated with 5 recessive alleles. Our study highlights the importance of recessive mutations in familial congenital hydrocephalus and expands the locus heterogeneity of this condition. Ann Neurol 2017;81:890-897. © 2017 American Neurological Association.

  12. Advances in the Understanding of the Genetic Causes of Hearing Loss in Children Inform a Rational Approach to Evaluation.

    Science.gov (United States)

    Carey, John C; Palumbos, Janice C

    2016-10-01

    Hearing loss represents the most common sensory disability of children. Remarkable advances in the identification of genes underlying nonsyndromic and syndromic hearing loss in just the last 2 decades have led to the ability to determine the specific genetic cause of hearing loss in many children. Surprisingly one gene, GJB2, encoding the protein connexin-26, accounts for about 20 % of sensorineural hearing loss (including in India) and is considered the first tier test in evaluating an infant with unexplained congenital hearing loss. Using the knowledge of the etiology of hearing loss, the authors propose a diagnostic reasoning process for the assessment of a child in the pediatric setting. Second tier testing consists of the multiple gene panels using whole exome sequencing strategies, and is becoming available in some regions of the world including the US. Referral to medical genetics is always a consideration in a child with no explanation for the hearing loss and in families with questions about recurrence risk.

  13. Congenital amusia.

    Science.gov (United States)

    Williamson, Victoria J; Stewart, Lauren

    2013-01-01

    For most people, music, like language, is acquired effortlessly in early life. But a few percent of the population have lifelong difficulties in the perception and production of music. In this chapter we discuss psycho-acoustic and behavioral studies that have attempted to delineate the nature of the auditory perceptual deficits in this group and consider whether these difficulties extend outside the musical domain. Finally, we review structural imaging studies in this group which point to subtle anomalies in temporal and frontal areas. We suggest that amusia can be considered a disorder of neural development, which has relatively specific consequences at the behavioral level. Studies of congenital amusia provide a unique window on the neurocognitive architecture of music processing. Copyright © 2013 Elsevier B.V. All rights reserved.

  14. Risk of sudden sensorineural hearing loss in patients with common preexisting sensorineural hearing impairment: a population-based study in Taiwan.

    Directory of Open Access Journals (Sweden)

    Malcolm Koo

    Full Text Available The role of preexisting sensorineural hearing impairment on the risk for sudden sensorineural hearing loss (SSHL is still unclear. In this study, we aimed to assess the risk of SSHL in patients with common preexisting sensorineural hearing impairment using population-based data.A population-based case-control study design was used to analyze claims data between January 2001 and December 2011 obtained from the Taiwan National Health Insurance Research Database. The cases consisted of 514 patients with SSHL and the controls were frequency matched to 2,570 cases by sex, 10-year age group, and year of index date. Common sensorineural hearing impairments were retrospectively assessed in the cases and controls. Associations between sensorineural hearing impairment and risk of SSHL were evaluated using unconditional univariate and multivariate logistic regression analyses.The mean age for the 3,084 study subjects was 53.1 years (standard deviation, S.D. = 15.6. Of the 514 cases, 49 (9.5% had sensorineural hearing impairment while only 44 (1.7% of the 2,570 controls had the same condition. Univariate logistic regression analyses indicated that preexisting sensorineural hearing impairment was significantly associated with SSHL (odds ratio, OR = 6.05, p < 0.001. Other comorbidities including hypertension, diabetes mellitus, and hyperlipidemia also showed significant associations with SSHL. Similar results were obtained when the association between SSHL and sensorineural hearing impairment was adjusted with either all the covariates (adjusted OR = 6.22, p < 0.001 or with only those selected using a backward elimination procedure (adjusted OR = 6.20, p < 0.001.Results from this population-based case-control study revealed that common sensorineural hearing impairment might be a novel risk factor for SSHL.

  15. A new compound heterozygous frameshift mutation in the type II 3{beta}-hydroxysteroid dehydrogenase 3{beta}-HSD gene causes salt-wasting 3{beta}-HSD deficiency congenital adrenal hyperplasia

    Energy Technology Data Exchange (ETDEWEB)

    Zhang, L.; Sakkal-Alkaddour, S.; Chang, Ying T.; Yang, Xiaojiang; Songya Pang [Univ. of Illinois, Chicago, IL (United States)

    1996-01-01

    We report a new compound heterozygous frameshift mutation in the type II 3{Beta}-hydroxysteroid dehydrogenase (3{beta}-HSD) gene in a Pakistanian female child with the salt-wasting form of 3{Beta}-HSD deficiency congenital adrenal hyperplasia. The etiology for her congenital adrenal hyperplasia was not defined. Although the family history suggested possible 3{beta}-HSd deficiency disorder, suppressed adrenal function caused by excess glucocorticoid therapy in this child at 7 yr of age did not allow hormonal diagnosis. To confirm 3{beta}-HSD deficiency, we sequenced the type II 3{beta}-HSD gene in the patient, her family, and the parents of her deceased paternal cousins. The type II 3{beta}-HSD gene region of a putative promotor, exons I, II, III, and IV, and exon-intron boundaries were amplified by PCR and sequenced in all subjects. The DNA sequence of the child revealed a single nucleotide deletion at codon 318 [ACA(Thr){r_arrow}AA] in exon IV in one allele, and two nucleotide deletions at codon 273 [AAA(Lys){r_arrow}A] in exon IV in the other allele. The remaining gene sequences were normal. The codon 318 mutation was found in one allele from the father, brother, and parents of the deceased paternal cousins. The codon 273 mutation was found in one allele of the mother and a sister. These findings confirmed inherited 3{beta}-HSD deficiency in the child caused by the compound heterozygous type II 3{beta}-HSD gene mutation. Both codons at codons 279 and 367, respectively, are predicted to result in an altered and truncated type II 3{beta}-HSD protein, thereby causing salt-wasting 3{beta}-HSD deficiency in the patient. 21 refs., 2 figs., 1 tab.

  16. Monitoring of congenital anomalies in Latvia.

    Science.gov (United States)

    Irisa Zilie; ViIIeruša, Anita; Gissler, Mika

    2014-09-01

    This study provides a description and analysis of characteristics of the monitoring system for congenital anomalies at birth and prevalence trends in Latvia using retrospective analysis of congenital anomalies at birth with cross-sectional data on prevalence (national data from Latvia, 2000-2010). There are three main monitoring systems on congenital anomalies among newborns and infants: the Medical Birth Register with data on live births with one or more congenital anomalies at birth, the Register on Congenital Anomalies with genetically approved cases for live births and the National Causes of Death Register with data on stillbirths. Methodological problems were analysed by calculating different prevalence rates. The main outcome measures are as follows: prevalence rate, live birth prevalence rate, major congenital anomalies live birth prevalence rate, and stillbirth rate. The live birth period prevalence was 319.7/10,000 live births, and the majoir congenital anomalies live birth prevalence was 211.4/10,000. The period total prevalence rate of births was.323.7/10,000 live births and stillbirths. The stillbirth rate due to congenital anomalies was 6.1/10,000 live and stillbirths. The live birth prevalence with congenital anomalies decreased slightly from the year 2000 tothe year 2010. The present system of congenital anomaly registration requires improvements for better completeness. Latvia should use the experience.of Nordic countries and introduce a mother's and children's identification number to the Medical Birth Register. It would be helpful to link the information from hospitals and perinatal centres together to validate the congenital anomaly diagnoses of newborns after their discharge from the maternity unit. The monitoring system should also include information on pregnancies with congenital anomalies which do not end in birth, especially terminations of pregnancy.

  17. Congenital giant melanocytic nevi

    Directory of Open Access Journals (Sweden)

    Shahla Khan

    2009-07-01

    Full Text Available Nevi are common skin tumors caused by abnormal overgrowth of cells from the epidermal and dermal layers of the skin. Most nevi are benign, but some pre-cancerous nevi must be monitored or removed. The giant congenital nevus is greater than 10 cm in size, pigmented and often hairy. Between 4% and 6% of these lesions will develop into a malignant melanoma. Since approximately 50% of the melanoma develop by the age of two, and 80% by the age of seven, early removal is recommended. The objective of this paper is to present a unique case of giant nevi and their surgical management.

  18. Congenital Pulmonary Malformation in Children

    OpenAIRE

    Nadeem, Montasser; Elnazir, Basil; Greally, Peter

    2012-01-01

    Congenital Pulmonary Malformations (CPMs) are a group of rare lung abnormalities affecting the airways, parenchyma, and vasculature. They represent a spectrum of abnormal development rather than discrete pathological entities. They are caused by aberrant embryological lung development which occurs at different stages of intrauterine life.

  19. Congenital Pulmonary Malformation in Children

    Directory of Open Access Journals (Sweden)

    Montasser Nadeem

    2012-01-01

    Full Text Available Congenital Pulmonary Malformations (CPMs are a group of rare lung abnormalities affecting the airways, parenchyma, and vasculature. They represent a spectrum of abnormal development rather than discrete pathological entities. They are caused by aberrant embryological lung development which occurs at different stages of intrauterine life.

  20. Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.

    Science.gov (United States)

    Burdon, Kathryn P; McKay, James D; Sale, Michèle M; Russell-Eggitt, Isabelle M; Mackey, David A; Wirth, M Gabriela; Elder, James E; Nicoll, Alan; Clarke, Michael P; FitzGerald, Liesel M; Stankovich, James M; Shaw, Marie A; Sharma, Shiwani; Gajovic, Srecko; Gruss, Peter; Ross, Shelley; Thomas, Paul; Voss, Anne K; Thomas, Tim; Gécz, Jozef; Craig, Jamie E

    2003-11-01

    Nance-Horan syndrome (NHS) is an X-linked disorder characterized by congenital cataracts, dental anomalies, dysmorphic features, and, in some cases, mental retardation. NHS has been mapped to a 1.3-Mb interval on Xp22.13. We have confirmed the same localization in the original, extended Australian family with NHS and have identified protein-truncating mutations in a novel gene, which we have called "NHS," in five families. The NHS gene encompasses approximately 650 kb of genomic DNA, coding for a 1,630-amino acid putative nuclear protein. NHS orthologs were found in other vertebrates, but no sequence similarity to known genes was identified. The murine developmental expression profile of the NHS gene was studied using in situ hybridization and a mouse line containing a lacZ reporter-gene insertion in the Nhs locus. We found a complex pattern of temporally and spatially regulated expression, which, together with the pleiotropic features of NHS, suggests that this gene has key functions in the regulation of eye, tooth, brain, and craniofacial development.

  1. A Targeted Approach for Congenital Cytomegalovirus Screening Within Newborn Hearing Screening.

    Science.gov (United States)

    Fowler, Karen B; McCollister, Faye P; Sabo, Diane L; Shoup, Angela G; Owen, Kris E; Woodruff, Julie L; Cox, Edith; Mohamed, Lisa S; Choo, Daniel I; Boppana, Suresh B

    2017-02-01

    Congenital cytomegalovirus (cCMV) infection remains a leading cause of childhood hearing loss. Currently universal CMV screening at birth does not exist in the United States. An alternative approach could be testing infants who do not pass their newborn hearing screening (NHS) for cCMV. This study was undertaken to evaluate whether a targeted approach will identify infants with CMV-related sensorineural hearing loss (SNHL). Infants born at 7 US medical centers received NHS and were also screened for cCMV while in the newborn nursery. Infants who tested positive for CMV received further diagnostic audiologic evaluations to identify or confirm hearing loss. Between 2007 and 2012, 99 945 newborns were screened for both hearing impairment and cCMV. Overall, 7.0% of CMV-positive infants did not pass NHS compared with 0.9% of CMV-negative infants (P CMV-infected infants who passed their NHS had SNHL confirmed by further evaluation during early infancy. NHS in this cohort identified 57% of all CMV-related SNHL that occurred in the neonatal period. A targeted CMV approach that tests newborns who fail their NHS identified the majority of infants with CMV-related SNHL at birth. However, 43% of the infants with CMV-related SNHL in the neonatal period and cCMV infants who are at risk for late onset SNHL were not identified by NHS. Copyright © 2017 by the American Academy of Pediatrics.

  2. Blood-Labyrinth Barrier Permeability in Menière Disease and Idiopathic Sudden Sensorineural Hearing Loss: Findings on Delayed Postcontrast 3D-FLAIR MRI.

    Science.gov (United States)

    Pakdaman, M N; Ishiyama, G; Ishiyama, A; Peng, K A; Kim, H J; Pope, W B; Sepahdari, A R

    2016-06-02

    Menière disease and idiopathic sudden sensorineural hearing loss can have overlapping clinical presentation and may have similar pathophysiology. Prior studies using postcontrast 3D-FLAIR MR imaging suggest abnormal blood-labyrinth barrier permeability in both conditions, but the 2 diseases have not been directly compared by using the same imaging techniques. We hypothesized that delayed postcontrast 3D-FLAIR MR imaging would show differences in blood-labyrinth barrier permeability between Menière disease and idiopathic sudden sensorineural hearing loss. Patients with unilateral Menière disease (n = 32) and unilateral idiopathic sudden sensorineural hearing loss (n = 11) imaged with delayed postcontrast 3D-FLAIR MR imaging were retrospectively studied. Signal intensities of the medulla and perilymph of the cochlear basal turns of both ears in each patient were measured in a blinded fashion. Cochlea/medulla ratios were calculated for each ear as a surrogate for blood-labyrinth barrier permeability. The ears were segregated by clinical diagnosis. Cochlea/medulla ratio was higher in symptomatic ears of patients with Menière disease (12.6 ± 7.4) than in patients with idiopathic sudden sensorineural hearing loss (5.7 ± 2.0) and asymptomatic ears of patients with Menière disease (8.0 ± 3.1), indicating increased blood-labyrinth barrier permeability in Menière disease ears. The differences in cochlea/medulla ratio between symptomatic and asymptomatic ears were significantly higher in Menière disease than in idiopathic sudden sensorineural hearing loss. Asymptomatic ears in patients with Menière disease showed higher cochlea/medulla ratio than symptomatic and asymptomatic ears in patients with idiopathic sudden sensorineural hearing loss. Increased cochlea/medulla ratio indicates increased blood-labyrinth barrier permeability in Menière disease compared with idiopathic sudden sensorineural hearing loss. Increased cochlea/medulla ratio in asymptomatic ears of

  3. Temporal bone CT analysis of congenital ear anomalies

    International Nuclear Information System (INIS)

    Hwang, Jung Won; Moon, Min Joo; Sung, Kyu Bo

    1988-01-01

    Authors analysed the CT findings of the congenital ear anomalies of twenty-nine patients for 2 years and 3 months. The results were as follows: 1. Most of the patients were under the age of 20 (82.7%) and prevalent in male (72.4%). 2. Clinically, congenital ear anomalies were detected in 20 patients (68.9%), conductive hearing loss in 4, sensorineural hearing loss in 1, and the remained 4 patients were detected incidentally without clinical symptom. 3. In the cases of unilateral involvement of 20 patients, right ear was more common (12/20). Eight of 9 bilateral involvement showed similar degree. 4. The middle ear malformations were found in 22 patients (75.9%) and bilateral in 4 patients. 26 cases of middle ear malformations had been classified by Frey into 4 groups; Group I in 5, Group II in 9, Graoup III in 9 and Group IV in 3. 5. Incidentally found ear anomaly was lateral semicircular canal formed a single cavity with the vestibule in all patients (5 pts.). 6. Inner ear malformations accompanying sensorineural hearing loss were found in 3 patients with bilateral involvement and middle ear malformations were accompanied in 2 patients. The degree of involvement of labyrinth was variable.

  4. Hearing outcome of infants with congenital cytomegalovirus and hearing impairment.

    Science.gov (United States)

    Bilavsky, Efraim; Shahar-Nissan, Keren; Pardo, Joseph; Attias, Joseph; Amir, Jacob

    2016-05-01

    Congenital cytomegalovirus (cCMV) is the most common non-genetic cause of childhood sensorineural hearing loss. Antiviral treatment has been shown to prevent hearing deterioration in these infants. However, studies focused on infants with hearing impairment at birth and on the specific degree of impairment and further improvement or deterioration are lacking. To investigate the relationship between hearing status at birth and any change in hearing status at the end of a prolonged follow-up period, after receiving 12 months of antiviral treatment in children born with hearing impairment due to congenital cCMV. Clinical, laboratory, radiological and audiological data of all infants with cCMV infection followed in our centre between 2005 and 2013 were reviewed. Treatment with antiviral medication for hearing impairment found during the neonatal period was12 months of gan/valganciclovir. Hearing studies were performed only on infants who had been followed up for more than 1 year after treatment. Hearing impairment at birth was found in 54 (36.2%) of the 149 infants diagnosed with symptomatic cCMV, and found in 77 affected ears; unilateral in 31 (57.4%) and bilateral in 23 (42.6%). After 1 year of antiviral treatment and a long-term follow-up of the 77 affected ears at baseline, 50 (64.9%) had improved, 22 (28.6%) remained unchanged and 5 (6.5%) had deteriorated. Most improved ears (38/50=76%) returned to normal hearing. Improvement was most likely to occur in infants born with mild or moderate hearing loss and less in those with severe impairment. We found that infants born with cCMV and hearing impairment, receiving 12 months of antiviral treatment, showed significant improvement in hearing status. The probability of hearing improvement seems inversely related to the severity of the impairment at birth. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  5. [Prognostic factors of sudden sensorineural hearing loss in children].

    Science.gov (United States)

    Li, Fengjiao; Xue, Xijun; Wang, Li; Yang, Fengbo; Wang, Hongyang; Guan, Jing; Du, Wan; Xiong, Wenping; Wu, Kaiwen; Wu, Mukun; Yin, Zifang; Lan, Lan; Wang, Dayong; Wang, Qiuju

    2015-11-01

    The aim of this retrospective study was to analyze the recovery rate of sudden sensorineural hearing loss in children, and explore the prognostic factors in order to guide the clinical diagnosis and treatment. A retrospective review was conducted for the prognosis of children with sudden sensorineural hearing loss during the past 5 years (from November 2010 to May 2015) in Chinese PLA General Hospital. This paper have a complete clinical data of 101 patients (113 ears)with sudden hearing loss, ranging from 0 to 18 years old Patients were divided into four groups according to hearing recovery and eight putative prognostic factors were analyzed. Among 101 patients (113 ears), the ratio of male and female was 60:53. Treatment was initiated from 1 to 183 days after disease onset, with an average of (18.5 ± 22.1) d. Bilateral and unilateral hearing loss were 24 ears and 89 ears, respectively. The proportion of mild hearing loss, moderate hearing loss, severe hearing loss and profound hearing loss were 7.1%, 6.2%, 23.9% and 62.8%, respectively. Vertigo and tinnitus occurred in 54.9% and 77.9% of the patients, respectively. After the treatment, the complete recovery rate was 9.7% and the overall recovery rate was 36.3%. The degree of hearing loss, earlier treatment onset, sex and bilateral involvement were significantly associated with hearing recovery (P Sudden sensorineural hearing loss in children was generally identified as severe and profound hearing loss, but after positive and timely treatment, it can be improved or even cured. The mild hearing loss, earlier treatment onset, unilateral hearing loss and female were positive prognostic factors. The concurrence of tinnitus or vertigo, the results of ABR and DPOAE had no significant influence on prognosis.

  6. The relationship between neonatal hyperbilirubinemia and sensorineural hearing loss.

    Science.gov (United States)

    Corujo-Santana, Cándido; Falcón-González, Juan Carlos; Borkoski-Barreiro, Silvia Andrea; Pérez-Plasencia, Daniel; Ramos-Macías, Ángel

    2015-01-01

    Severe jaundice that requires exchange transfusion has become a relatively rare situation today. About 60% of full term neonates and 80% of premature ones will suffer from jaundice within the first week of life. Hyperbilirubinemia at birth is a risk factor associated with hearing loss that is usually further linked to other factors that might have an effect on hearing synergistically. This study aimed to identify the relationship between hyperbilirubinemia at birth as a risk factor for sensorineural hearing loss in children born at Complejo Hospitalario Universitario Insular Materno-Infantil de Gran Canaria, in the 2007-2011 period. This was a retrospective study of 796 newborns that had hyperbilirubinemia at birth, using transient evoked otoacoustic emissions and evoked auditory brainstem response. Hundred eighty-five newborns (23.24%) were referred for evoked auditory brainstem response. Hearing loss was diagnosed for 35 (4.39%): 18 neonates (51.43%) with conductive hearing loss and 17 (48.57%) with sensorineural hearing loss, 3 of which were diagnosed as bilateral profound hearing loss. Half of the children had other risk factors associated, the most frequent being exposure to ototoxic medications. The percentage of children diagnosed with sensorineural hearing loss that suffered hyperbilirubinemia at birth is higher than for the general population. Of those diagnosed, none had levels of indirect bilirubin≥20mg/dl, only 47% had hyperbilirubinemia at birth as a risk factor and 53% had another auditory risk factor associated. Copyright © 2014 Elsevier España, S.L.U. and Sociedad Española de Otorrinolaringología y Patología Cérvico-Facial. All rights reserved.

  7. Genotypic Diversity and Mixed Infection in Newborn Disease and Hearing Loss in Congenital Cytomegalovirus Infection

    Science.gov (United States)

    Pati, Sunil; Pinninti, Swetha; Novak, Zdenek; Chowdhury, Nazma; Patro, Raj; Fowler, Karen; Ross, Shannon; Boppana, Suresh

    2013-01-01

    Background Congenital cytomegalovirus (cCMV) is a common congenital infection and a leading non-genetic cause of sensorineural hearing loss (SNHL). CMV exhibits extensive genetic variability and infection with multiple CMV strains (mixed infection) was shown to be common in cCMV. The role of mixed infections in disease and outcome remains to be defined. Methods Genotyping of envelope glycoproteins, UL55 (gB), UL73 (gN) and UL75 (gH) was performed on saliva specimens from 79 infants from the ongoing CMV and Hearing Multicenter Screening Study (CHIMES) and on blood and urine specimens from 52 infants who participated in natural history studies at the University of Alabama at Birmingham. Genotyping of UL144 and US28 was also performed in the CHIMES cohort. The association of individual genotypes and mixed infection with clinical findings at birth and SNHL was examined. Results Thirty seven of 131 infants (28%) were symptomatic at birth and 26 (20%) had SNHL at birth. All known genotypes of UL55, UL75, UL73, and US28 were represented and no particular genotype was associated with symptomatic infection or SNHL. UL144 subtype C was more common in symptomatic babies but not associated with SNHL. Mixed infection was observed in 59 infants (45%) and not associated with symptoms (p = 0.43) or SNHL at birth (p = 0.82). In the cohort of 52 infants with long-term hearing outcome, mixed infection at birth was not predictive of SNHL. Conclusions Mixed infection is common in infants with cCMV but is neither associated with symptomatic infection nor with SNHL. PMID:23694837

  8. Characterising variation in five genetic loci of cytomegalovirus during treatment for congenital infection.

    Science.gov (United States)

    Kadambari, Seilesh; Atkinson, Claire; Luck, Suzanne; Macartney, Malcolm; Conibear, Tim; Harrison, Ian; Booth, Clare; Sharland, Mike; Griffiths, Paul D

    2017-03-01

    Cytomegalovirus (CMV) is the most common congenital infection in humans and a leading cause of sensorineural hearing loss. Ganciclovir (6 mg/kg twice daily for 42 days) has been shown to reduce hearing deterioration and is used in clinical practice. Vaccines and passive administration of antibody are being evaluated in randomized controlled trials in allograft candidates, women of childbearing age, and pregnant women with primary CMV infection. To help define genetic variation in each of the targets of these therapeutic interventions, we amplified and sequenced genes UL97 (site utilised for ganciclovir phosphorylation), UL55 (glycoprotein B (gB) vaccine target) and UL128, UL130, and UL131a (specific monoclonal antibody targets). Serial blood, saliva, and urine samples (total 120) obtained from nine infants with symptomatic congenital CMV treated with 42 days' ganciclovir were analyzed. All samples tested were UL97 wild type at baseline and none developed mutations during treatment, showing no selection of resistance. The prevalences of UL55 genotypes were 28% gB1, 22% gB2, 1% gB3, and mixed in 20% samples. No mutations were noted in UL128-131a. Phylogenetic tree analysis showed that sequences with variations were found in multiple body sites of individual patients, so there was no evidence of body site compartmentalization of particular strains of CMV. The significance of these results for changes in diagnostic practices and therapeutic interventions against CMV are discussed. J. Med. Virol. 89:502-507, 2017. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  9. [Analyses prognostic factors relevant to sudden sensorineural hearing loss].

    Science.gov (United States)

    Wang, Jun; Xiao, Shuifang; Zeng, Zhengang; Zhen, Zhen; Zhang, Xuexi; Lin, Feng; Dong, Mingmin; Lu, Wei; Qin, Zhaobing; Zuo, Bin; Bai, Xianfeng

    2015-06-01

    To investigate the prognostic factors relevant to sudden sensorineural hearing loss. The internationally accepted standardized clinical research methods, unified design, and unified program were adopted to conduct the prospective clinical multi-center study. The sudden deafness patients between 18 to 65 years old, with the course of this disorder less than two weeks, and without any medical treatments were collected, and then, divided into four types according to the hearing curve: type A, acute sensorineural hearing loss in low tone frequencies; type B, acute sensorineural hearing loss in high tone frequencies; type C, acute sensorineural hearing loss in all frequencies; and type D, total deafness. The factors, in terms of age, gender, type of initial audiogram, time delay before the first visit, and severity of hearing loss, were included in the analyses. A total of 1 024 cases with single side sudden deafness were collected in the study from 33 hospitals in China from August 2007 to October 2011, inclusive of for 492 males (48.05%) and 532 females (51.95%). The average age was (41.2 ± 12.8) years old. There were 553 cases (54.00%) in left ear, and 471 cases (46.00%) in right ear. The curative effects of different types were shown as follows: the type in low tone frequencies had the highest rate of 90.73%, the type in all frequencies was 82.59%; the type of total deafness was 70.29%; and the type in high tone frequencies had the lowest rate of 65.96%. It had significant difference of the effective rate between different types (χ(2) = 231.58, P = 0.000). Age, time delay before first visit, and severity of initial hearing loss were significantly correlated with hearing improvement. Initial audiogram of SSNHL might predict hearing recovery. The young in age and a short time delay before starting treatment are positive prognostic factors for hearing recovery in SSNHL. The initial severity of hearing loss is negative prognostic factor of hearing recovery.

  10. Sudden sensorineural hearing loss after non-otologic surgery.

    Science.gov (United States)

    Page, Joshua Cody; Peters, Bob

    2015-01-01

    Sudden sensorineural hearing loss following non-otologic surgery is a rare event described in the medical literature. Cardiopulmonary bypass surgery is most commonly associated with this type of hearing loss. Our case report and review of the literature describe two cases with postoperative hearing loss - neither of which are cardiac surgeries - making them exceedingly rare in the medical literature. Regardless of the rarity of this unfortunate event, the possibility for permanent hearing loss is a potentially devastating unanticipated complication and one that all surgeons should be aware. Copyright © 2015 Elsevier Inc. All rights reserved.

  11. Identification of evidence for autoimmune pathology of bilateral sudden sensorineural hearing loss using proteomic analysis.

    Science.gov (United States)

    Lee, Jeon Mi; Kim, Jin Young; Bok, Jinwoong; Kim, Kyu-Sung; Choi, Jae Young; Kim, Sung Huhn

    2017-10-01

    Sudden sensorineural hearing loss (S-SNHL) is an inner ear disorder with an abrupt hearing loss occurring sudden sensorineural hearing loss; LC-MS: liquid chromatography-mass spectrometry; MS: mass spectrometry; autoAb: autoantibody; 1-DE: one-dimensional electrophoresis. Copyright © 2017 Elsevier Inc. All rights reserved.

  12. Experimental Infection of Sheep at 45 and 60 Days of Gestation with Schmallenberg Virus Readily Led to Placental Colonization without Causing Congenital Malformations

    Science.gov (United States)

    Dal Pozzo, Fabiana; De Regge, Nick; Cay, Brigitte; Saegerman, Claude

    2015-01-01

    Background Main impact of Schmallenberg virus (SBV) on livestock consists in reproductive disorders, with teratogenic effects, abortions and stillbirths. SBV pathogenesis and viral placental crossing remain currently poorly understood. Therefore, we implemented an experimental infection of ewes, inoculated with SBV at 45 or 60 days of gestation (dg). Methodology “Mourerous” breed ewes were randomly separated in three groups: eight and nine ewes were subcutaneously inoculated with 1 ml of SBV infectious serum at 45 and 60 dg, respectively (G45 and G60). Six other ewes were inoculated subcutaneously with sterile phosphate buffer saline as control group. All SBV inoculated ewes showed RNAemia consistent with previously published studies, they seroconverted and no clinical sign was reported. Lambs were born at term via caesarian-section, and right after birth they were blood sampled and clinically examined. Then both lambs and ewes were euthanatized and necropsied. Principal Findings/Significance No lambs showed any malformation suggestive of SBV infection and none of them had RNAemia or anti-SBV antibodies prior to colostrum uptake. Positive SBV RNA detection in organs was rare in both G45 and G60 lambs (2/11 and 1/10, respectively). Nevertheless most of the lambs in G45 (9/11) and G60 (9/10) had at least one extraembryonic structure SBV positive by RTqPCR. The number of positive extraembryonic structures was significantly higher in G60 lambs. Time of inoculation (45 or 60 dg) had no impact on the placental colonization success rate but affected the frequency of detecting the virus in the offspring extraembryonic structures by the time of lambing. SBV readily colonized the placenta when ewes were infected at 45 or 60 dg but infection of the fetuses was limited and did not lead to congenital malformations. PMID:26418420

  13. Cardiac Arrhythmias In Congenital Heart Diseases

    Directory of Open Access Journals (Sweden)

    Paul Khairy

    2009-11-01

    Full Text Available Arrhythmias figure prominently among the complications encountered in the varied and diverse population of patients with congenital heart disease, and are the leading cause of morbidity and mortality. The incidence generally increases as the patient ages, with multifactorial predisposing features that may include congenitally malformed or displaced conduction systems, altered hemodynamics, mechanical or hypoxic stress, and residual or postoperative sequelae. The safe and effective management of arrhythmias in congenital heart disease requires a thorough appreciation for conduction system variants, arrhythmia mechanisms, underlying anatomy, and associated physiology. We, therefore, begin this review by presenting the scope of the problem, outlining therapeutic options, and summarizing congenital heart disease-related conduction system anomalies associated with disorders of the sinus node and AV conduction system. Arrhythmias encountered in common forms of congenital heart disease are subsequently discussed. In so doing, we touch upon issues related to risk stratification for sudden death, implantable cardiac devices, catheter ablation, and adjuvant surgical therapy.

  14. Sudden onset unilateral sensorineural hearing loss after rabies vaccination.

    Science.gov (United States)

    Okhovat, Saleh; Fox, Richard; Magill, Jennifer; Narula, Antony

    2015-12-15

    A 33-year-old man developed profound sudden onset right-sided hearing loss with tinnitus and vertigo, within 24 h of pretravel rabies vaccination. There was no history of upper respiratory tract infection, systemic illness, ototoxic medication or trauma, and normal otoscopic examination. Pure tone audiograms (PTA) demonstrated right-sided sensorineural hearing loss (thresholds 90-100 dB) and normal left-sided hearing. MRI internal acoustic meatus, viral serology (hepatitis B, C, HIV and cytomegalovirus) and syphilis screen were normal. Positive Epstein-Barr virus IgG, viral capsid IgG and anticochlear antibodies (anti-HSP-70) were noted. Initial treatment involved a course of high-dose oral prednisolone and acyclovir. Repeat PTAs after 12 days of treatment showed a small improvement in hearing thresholds. Salvage intratympanic steroid injections were attempted but failed to improve hearing further. Sudden onset sensorineural hearing loss (SSNHL) is an uncommon but frightening experience for patients. This is the first report of SSNHL following rabies immunisation in an adult. 2015 BMJ Publishing Group Ltd.

  15. Endothelial Dysfunction in Idiopathic Sudden Sensorineural Hearing Loss: A Review

    Science.gov (United States)

    Quaranta, Nicola; De Ceglie, Vincenzo; D’Elia, Alessandra

    2016-01-01

    An endothelial dysfunction has been described in idiopathic sudden sensorineural hearing loss (ISSHL) patients. The purpose of our review was to: i) identify, evaluate and review recent research about cardiovascular risk factors involvement and signs of endothelial dysfunction in ISSHL; ii) implication of these discovering in clinical practice and future research. A Medline literature search was conducted to identify any study on the involvement of endothelial dysfunction in ISSHL, published in the English language in the last decade. The following MEDLINE search terms were used: sudden sensorineural hearing loss (SSHL) and endothelial dysfunction (text words). Additional studies were identified by hand searching the references of original articles and review articles. Studies were not excluded on the basis of the qualitative or quantitative definitions of SSHL, treatment regimens, or outcome measures. Data were extracted from included papers by a reviewer. Information on the patients, investigations, methods, interventions, and outcomes were systematically analyzed. Characteristics and results of all included studies were reviewed systematically. High levels of adhesion molecules, hyperhomocysteinemia and lower folate levels, unbalanced oxidative status, a lower value of flow-mediated dilatation of brachial artery and a reduced percentage of circulating endothelial progenitor cells in patients affected by ISSHL support the hypothesis that this syndrome should be considered as a microcirculation disorder based on endothelial dysfunction and drive clinicians to implement all the traditional strategies used for preventing cardiovascular events, to also reduce the likelihood of ISSHL occurrence. PMID:27588164

  16. Adjunctive hyperbaric oxygen treatment for idiopathic sudden sensorineural hearing loss.

    Science.gov (United States)

    Chin, Chun-Shih; Lee, Tsai-Yun; Wu, Ming-Feng

    2017-01-01

    This study aims to evaluate the hearing gain efficacy from adjunctive hyperbaric oxygen (HBO₂) treatment in patients with idiopathic sudden sensorineural hearing loss (ISSHL). A retrospective analysis of chart reviews was performed on patients with ISSHL between January 2013 through December 2015. All patients were referred to us from our ENT Department for adjunctive hyperbaric oxygen treatment. The results were assessed through pure-tone audiometry (PTA) data change (hearing gain), both before and after HBO₂) treatment. Age, gender, affected ear side, HBO₂) treatment sessions, both before and after HBO₂ treatment PTA were all recorded. Ninety-three (93) patients with ISSHL were included in the study. The average hearing gain in this study was 17.9 dB (p=0.001), where a total of 46 (49.46%) patients showed an improvement (hearing gain≥dB) in response to HBO₂ treatment (p=0.002). Patients with the poorest initial severity of hearing loss who displayed a greater degree of hearing improvement after HBO₂ treatment were male and in the 40- to 59-year-old age group. This study found that adjunctive hyperbaric oxygen treatment was efficacious for patients with idiopathic sudden sensorineural hearing loss. The total average hearing gain was recorded to be 17.9 dB.

  17. Prevalence of Congenital Malformations

    Directory of Open Access Journals (Sweden)

    Akhavan Karbasi Sedighah

    2009-05-01

    Full Text Available Congenital malformation (CM will begin to emerge as one of the major childhood health problems .Treatment and rehabilitation of children with congenital malformations are costly and complete recovery is usually impossible. The aim of this study was to determine frequency of CM in Yazd central city of the Islamic Republic of Iran to find out if there has been any difference in the rate and types of CM in this area. This descriptive-observational study carried on 4800 births delivered at all maternity hospitals in Yazd from October 2003 to June 2004. Prevalence of CM was 2.83% (2.86 % in male and 2.68 % in female out of the 136 cases 69(51.88% were males and 64 (48.12% were females and 3 with ambiguous genitalia. Positive family history of CM in sibling was in only 6 cases (4.41%.Overall, musculoskeletal (0.83%, central nerv-ous system (0.47% and genital system (0.37% were accounted as the most common. Frequency of CM was more seen in still birth (12.5% as in comparison to live birth (2.71%. There was not statistical difference be-tween prevalence of CM and neonatal's gender, gestational age, birth order and mother's age, drug ingestion, illness and parental consanguinity. In this study the overall prevalence of congenital malformation among the newborn was higher than those previous reported in Iran and determining the causes of this difference needs more extensive studies.

  18. Congenital heart disease

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/001114.htm Congenital heart disease To use the sharing features on this page, please enable JavaScript. Congenital heart disease (CHD) is a problem with the heart's structure ...

  19. Congenital Cytomegalovirus Infection: New Prospects for Prevention and Therapy

    Science.gov (United States)

    Swanson, Elizabeth C.; Schleiss, Mark R.

    2013-01-01

    SYNOPSIS Cytomegalovirus (CMV) is the most common congenital viral infection in the developed world, with an overall birth prevalence of approximately 0.6%. Approximately 10% of congenitally infected infants have signs and symptoms of disease at birth, and these symptomatic infants have a high risk for demonstration of subsequent neurologic sequelae, including sensorineural hearing loss (SNHL), mental retardation, microcephaly, development delay, seizure disorders, and cerebral palsy. Antiviral therapy of children with symptomatic central nervous system (CNS) congenital CMV infection is effective at reducing the risk of long-term disabilities and should be offered to families with affected newborns. An effective pre-conceptual vaccine against CMV could, by preventing congenital infection, protect against long-term neurological sequelae and other disabilities. A variety of active and passive immunization strategies are in clinical trials and are likely to be licensed in the next few years. Until a vaccine is licensed, preventive strategies aimed at reducing transmission should be emphasized and public awareness increased, particularly among women of child-bearing age. PMID:23481104

  20. Congenital cataracts in two siblings with Wolfram syndrome.

    Science.gov (United States)

    Mets, Rebecca B; Emery, Sarah B; Lesperance, Marci M; Mets, Marilyn B

    2010-12-01

    Wolfram syndrome is characterized by optic atrophy, insulin dependent diabetes mellitus, diabetes insipidus and deafness. There are several other associated conditions reported in the literature, but congenital or early childhood cataracts are not among them. Observational case series with confirmatory genetic analysis. A pair of siblings, followed over 17 years, who manifest congenital or early childhood cataracts, diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. They are both compound heterozygotes for mutations (V415 deletion and A684V substitution) in the WFS1 gene. Their father has congenital sensorineural hearing loss and developed optic atrophy. He is heterozygous for A684V in WFS1. Wolfram syndrome should be in the differential diagnosis of genetic syndromes associated with congenital and early childhood cataracts. Here, we report on a mother who is a phenotypically normal carrier of an autosomal recessive Wolfram syndrome gene, and a father who has some of the findings of the syndrome and carries a single mutation that appears to be responsible for his hearing loss and optic atrophy. Their 2 children are compound heterozygotes and manifest the full Wolfram syndrome, in addition to cataracts.

  1. Gestational and congenital syphilis.

    Science.gov (United States)

    Wendel, G D

    1988-06-01

    The frequency of congenital syphilis continues to increase throughout the United States during the 1980s. Untreated maternal infection can lead to stillbirth, premature labor, congenital infection, and neonatal death. Preventive measures, based on control of early syphilis in women, prenatal care, improved diagnosis and diligent followup, can help to decrease the incidence of congenital syphilis. The clinical presentation and recommended regimens for therapy of the gravida with syphilis and neonates with suspected congenital syphilis are reviewed.

  2. Congenital hemihypertrophy with hemihypertrichosis.

    Science.gov (United States)

    Akarsu, Saadet; Coskun, Basak Kandi; Aydin, Ayse Murat; Tekatli, Muhittin; Aygun, A Denizmen

    2005-06-01

    The rare condition in which one side of the body seems to grow faster than the other is called hemihypertrophy. This may be accepted as normal, but there are certain serious conditions that may be associated with this type of growth pattern. Congenital hypertrichosis is believed to be a genetic disorder that is inherited or occurs as a result of spontaneous mutation. The incidence of generalised congenital hypertrichosis is about one in a billion. A seven-month-old female case was brought to the hospital with growth and hairiness complaints, which were more apparent in the right side of the face, the right arm and the right leg. Physical examination showed more apparent hypertrophy and hypertrichosis, which covered the entire right side of the body beginning from the face and including the lower extremities and the genitalia. Hypertrichosis was more evident above the right scapula and on the right leg. The diameter of the right upper extremity and the right lower extremity were measured at 13 mm and 14 mm thicker than the left side, respectively. The infant did not have teeth yet and had totally normal nail growth. Skeletal structure, cardiovascular, respiratory, urogenital, central nervous system and eye examinations were all normal. Results of all laboratory analyses, including genetic examination, and those of the imaging techniques were found to be normal. We hereby present the rare co-presence of hemihypertrophy and hemihypertrichosis, for which we could not identify an etiological cause and which is the third such case in the literature.

  3. Congenital nephrotic syndrome

    Directory of Open Access Journals (Sweden)

    Claudia Fanni

    2014-06-01

    Full Text Available CNS (Congenital nephrotic syndrome is a disorder characterized by the presence of a nephrotic syndrome in the first three months of life. Different pathologies can cause this syndrome. In general, we can distinguish primary forms (sporadic and hereditary and secondary forms (acquired and associated with other syndromes. The most common form is the Finnish CNS (CNF, congenital nephrotic syndrome of the Finnish type, a hereditary form whose name derives from the fact that the highest incidence is described in that country (1.2:10,000. The pathogenesis, the clinical picture, the diagnostic criteria, the therapy and the outcome are described in details.  Proceedings of the International Course on Perinatal Pathology (part of the 10th International Workshop on Neonatology · October 22nd-25th, 2014 · Cagliari (Italy · October 25th, 2014 · The role of the clinical pathological dialogue in problem solving Guest Editors: Gavino Faa, Vassilios Fanos, Peter Van Eyken

  4. Altered Contralateral Auditory Cortical Morphology in Unilateral Sudden Sensorineural Hearing Loss.

    Science.gov (United States)

    Fan, Wenliang; Zhang, Wenjuan; Li, Jing; Zhao, Xueyan; Mella, Grace; Lei, Ping; Liu, Yuan; Wang, Haha; Cheng, Huamao; Shi, Hong; Xu, Haibo

    2015-12-01

    To investigate the cerebral gray matter volume alterations in unilateral sudden sensorineural hearing loss patients within the acute period by the voxel-based morphometry method, and to determine if hearing impairment is associated with regional gray matter alterations in unilateral sudden sensorineural hearing loss patients. Prospective case study. Tertiary class A teaching hospital. Thirty-nine patients with left-side unilateral sudden sensorineural hearing loss and 47 patients with right-side unilateral sudden sensorineural hearing loss. Diagnostic. To compare the regional gray matter of unilateral sudden sensorineural hearing loss patients and healthy control participants. Compared with control groups, patients with left side unilateral sudden sensorineural hearing loss had significant gray matter reductions in the right middle temporal gyrus and right superior temporal gyrus, whereas patients with right side unilateral sudden sensorineural hearing loss showed gray matter decreases in the left superior temporal gyrus and left middle temporal gyrus. A significant negative correlation with the duration of the sudden sensorineural hearing loss (R = -0.427, p = 0.012 for left-side unilateral SSNHL and R = -0.412, p = 0.013 for right-side unilateral SSNHL) was also found in these brain areas. There was no region with increased gray matter found in both groups of unilateral sudden sensorineural hearing loss patients. This study confirms that detectable decreased contralateral auditory cortical morphological changes have occurred in unilateral SSNHL patients within the acute period by voxel-based morphometry methods. The gray matter volumes of these brain areas also perform a negative correlation with the duration of the disease, which suggests a gradual brain structural impairment after the progression of the disease.

  5. Sensorineural and conductive hearing loss in infants diagnosed in the program of universal newborn hearing screening.

    Science.gov (United States)

    Wroblewska-Seniuk, Katarzyna; Dabrowski, Piotr; Greczka, Grazyna; Szabatowska, Katarzyna; Glowacka, Agata; Szyfter, Witold; Mazela, Jan

    2018-02-01

    The aim of this study was to analyze infants diagnosed with sensorineural or conductive hearing deficit and to identify risk factors associated with these defects. A retrospective analysis of infants diagnosed with hearing deficit based on the database of the universal newborn hearing screening program and medical records of the patients. 27 935 infants were covered by the universal neonatal hearing screening program. 109 (0.39%) were diagnosed with hearing deficit and referred for treatment and rehabilitation. 56 (51.4%) children were diagnosed with conductive, 38 (34.9%) with sensorineural and 15 (13.8%) with mixed type of hearing deficit. Children with sensorineural hearing deficit more frequently suffered from hyperbilirubinemia (p conductive hearing loss were more frequently diagnosed with isolated craniofacial anomalies (p hearing deficit occurred almost 3 times more often bilaterally than unilaterally (p hearing deficit, the difference was not significant. In children with conductive and mixed type of hearing loss the impairment was mainly mild while among those with sensorineural hearing deficit in almost 45% it was severe and profound (p hearing screening test by means of otoacoustic emissions and the final diagnosis of hearing deficit we found that the highest agreement rate was observed in children with sensorineural hearing loss (p hearing deficit was similar in children with sensorineural, conductive and mixed type of hearing loss, only hyperbilirubinemia seemed to predispose to sensorineural hearing deficit and isolated craniofacial malformations seemed to be associated with conductive hearing loss. Sensorineural hearing deficit usually occurred bilaterally and was severe or profound, while conductive and mixed type of hearing deficit were most often of mild degree. Most children with the final diagnosis of sensorineural hearing deficit had positive result of hearing screening by means of otoacoustic emissions. Copyright © 2017 Elsevier B.V. All

  6. The role of respiratory failure caused by congenital central nervous system abnormalities and the effect of β-casomorphins in sudden infant death syndrome pathogenesis

    OpenAIRE

    Barbara Sumińska-Ziemann; Tomasz Gos; Zbigniew Jankowski

    2015-01-01

    The aim of the paper is to discuss the role of respiratory failure caused by endogenous (both structural and functional) abnormalities in the central nervous system and exogenous food-derived opioid-like peptides in the pathogenesis of sudden infant death syndrome (SIDS). By stimulating μ-opioid receptors, opioid-like peptides may suppress the tonic activity of the respiratory centre in the brain stem.

  7. The role of respiratory failure caused by congenital central nervous system abnormalities and the effect of β-casomorphins in sudden infant death syndrome pathogenesis.

    Science.gov (United States)

    Sumińska-Ziemann, B; Gos, T; Jankowski, Z

    2015-01-01

    The aim of the paper is to discuss the role of respiratory failure caused by endogenous (both structural and functional) abnormalities in the central nervous system and exogenous food-derived opioid-like peptides in the pathogenesis of sudden infant death syndrome (SIDS). By stimulating μ-opioid receptors, opioid-like peptides may suppress the tonic activity of the respiratory centre in the brain stem.

  8. Sensorineural Hearing Loss in Selective Immunglobulin A Deficiency.

    Science.gov (United States)

    Eşki, Erkan; Usta, Belgin Emine; Asilsoy, Suna; Yılmaz, İsmail

    2017-03-01

    To assess hearing functions in pediatric patients with selective immunoglobulin A (IgA) deficiency (SIGAD). Pure-tone audiometry, acoustic impedance, otoacoustic emission, and brainstem audiometric measurements were taken during a non-infectious period in 28 patients with SIGAD and 28 healthy children with normal otoscopic examination. The results of the hearing tests were compared between the two groups. Two male patients and one female patient in the SIGAD group were found to have sensorineural hearing loss (SNHL). However, a comparison of the average pure tone cut-off values at 0.5, 1, 2, and 4 kHz did not reveal any statistically significant difference between the groups (p>0.05). Pediatric patients with SIGAD may exhibit SNHL at certain frequencies and require follow-up for the potential development of hearing loss.

  9. Renal abnormalities in congenital chloride diarrhea

    International Nuclear Information System (INIS)

    Al-Hamad, Nadia M.; Al-Eisa, Amal A.

    2004-01-01

    Congenital chloride diarrhea CLD is a rare autosomal recessive disorder caused by a defect in the chloride/ bicarbonate exchange in the ileum and colon. It is characterized by watery diarrhea, abdominal distension, hypochloremic hypokalemic metabolic alkalosis with high fecal content of chloride >90 mmol/l. We report 3 patients with CLD associated with various renal abnormalities including chronic renal failure secondary to renal hypoplasia, nephrocalcinosis and congenital nephrotic syndrome. (author)

  10. Neonatal screening parameters in infants with congenital Cytomegalovirus infection.

    NARCIS (Netherlands)

    Rovito, Roberta; Korndewal, Marjolein J; Schielen, Peter C J I; Kroes, Aloys C M; Vossen, Ann C T M

    2017-01-01

    Congenital Cytomegalovirus infection (cCMV) is the most common cause of congenital infections worldwide that can cause long-term impairment (LTI). The metabolic alterations due to cCMV are largely unknown. This study aims to assess the metabolites included in the neonatal screening in relation to

  11. Congenital TORCH infections of the brain--CT manifestation (with analysis of 7 cases)

    International Nuclear Information System (INIS)

    Li Xin; Li Minglin; Yang Zhiyong

    1997-01-01

    To study the neuropathologic changes and CT manifestations in congenital TORCH infection of the brain. Analysis of 7 cases of congenital TORCH infection of the neonates and infants demonstrated by serum examination was performed. There were congenital toxoplasmosis 3 cases, congenital syncytial virus infection 1 case, congenital rubella virus infection 1 case, congenital cytomegalovirus infection 2 cases, and congenital herpes simplex virus infection 1 case. Cerebral hypoplasia, ventricular dilatation or hydrocephalus, subependymal and parenchymal calcifications, microcephalic focal cortical migration anomalies, schizencephaly polymicrogyria, et al, were demonstrated by CT with congenital TORCH infection. The earlier the infection, the more severe the brain developmental anomalies. The extent and appearance of calcification in brain were related to the degree, extent and course of TORCH infection. Basal ganglia calcification of unknown cause in infant was suggestive of congenital TORCH infection. Typical CT manifestations together with clinical picture may suggest congenital TORCH infection, while serological test can be diagnostic

  12. Evaluation of cardiovascular risks and recovery of idiopathic sudden sensorineural hearing loss in hospitalised patients: comparison between complete and partial sudden sensorineural hearing loss.

    Science.gov (United States)

    Haremza, C; Klopp-Dutote, N; Strunski, V; Page, C

    2017-10-01

    To evaluate the presence of cardiovascular risk factors and recovery of idiopathic sudden sensorineural hearing loss in hospitalised patients. A single-centre retrospective study of 80 patients hospitalised for idiopathic sudden sensorineural hearing loss was conducted over a 6-year period. Mean pure tone hearing thresholds were assessed by pure tone audiometry. Twenty-three of 80 patients (28.75 per cent) initially had no cardiovascular risk factors. Forty-five patients had hyperlipidaemia, 22 patients had hypertension, 7 patients had diabetes mellitus and 7 patients were obese. No statistically significant difference was observed between patients with complete versus partial sudden sensorineural hearing loss (p = 0.0708) concerning the cardiovascular risk factors. At long-term follow up, the hearing recovery rate was not significantly different between the two groups of patients (p = 0.7541). The lack of a clear relationship between idiopathic sudden sensorineural hearing loss and cardiovascular risk factors suggests that sudden sensorineural hearing loss has a predominantly multifactorial disease profile regardless of hearing impairment severity.

  13. Postoperative pulmonary hypertensive crisis caused by inverted left atrial appendage after cardiopulmonary bypass surgery for congenital heart disease in a neonate.

    Science.gov (United States)

    Zhao, Qifeng; Hu, Xingti

    2013-09-01

    Postoperative pulmonary hypertensive crisis (PHC) caused by an inverted left atrial appendage (ILAA) is a rare complication following cardiac surgery. We present a case of 23 day-old male infant who developed postoperative PHC attacks after undergoing cardiopulmonary bypass (CPB) surgery for repair of the coactation of aorta. A hyperechogenic left atrial mass was detected via bedside transthoracic echocardiography (TTE), which was identified as an ILAA and corrected following repeat surgery. In this case, both the negative pressure in vent catheter and the long left atrial appendage (LAA) with a narrow base led to an irreversible ILAA. As in this neonate, ILAA had significant influence on the left atrial volume and caused PHC since the ILAA was located on the mitral valve orifice and interfered with the blood flow through the valve. Therefore, we recommend that the vent catheter should be turned off before removing to avoid this potential complication. Additionally, LAA should be carefully inspected after CPB surgery, and intra-operative and post-operative transoesophageal echocardiography (TEE) should be performed to detect ILAA intraoperatively so as to avoid the reoperation. When an ILAA is diagnosed postoperatively, whether conservative treatment or surgery will depend on the balance of benefit and risk for a particular patient. Crown Copyright © 2013. Published by Elsevier B.V. All rights reserved.

  14. A truncated form of rod photoreceptor PDE6 β-subunit causes autosomal dominant congenital stationary night blindness by interfering with the inhibitory activity of the γ-subunit.

    Directory of Open Access Journals (Sweden)

    Gaël Manes

    Full Text Available Autosomal dominant congenital stationary night blindness (adCSNB is caused by mutations in three genes of the rod phototransduction cascade, rhodopsin (RHO, transducin α-subunit (GNAT1, and cGMP phosphodiesterase type 6 β-subunit (PDE6B. In most cases, the constitutive activation of the phototransduction cascade is a prerequisite to cause adCSNB. The unique adCSNB-associated PDE6B mutation found in the Rambusch pedigree, the substitution p.His258Asn, leads to rod photoreceptors desensitization. Here, we report a three-generation French family with adCSNB harboring a novel PDE6B mutation, the duplication, c.928-9_940dup resulting in a tyrosine to cysteine substitution at codon 314, a frameshift, and a premature termination (p.Tyr314Cysfs*50. To understand the mechanism of the PDE6β1-314fs*50 mutant, we examined the properties of its PDE6-specific portion, PDE6β1-313. We found that PDE6β1-313 maintains the ability to bind noncatalytic cGMP and the inhibitory γ-subunit (Pγ, and interferes with the inhibition of normal PDE6αβ catalytic subunits by Pγ. Moreover, both truncated forms of the PDE6β protein, PDE6β1-313 and PDE6β1-314fs*50 expressed in rods of transgenic X. laevis are targeted to the phototransduction compartment. We hypothesize that in affected family members the p.Tyr314Cysfs*50 change results in the production of the truncated protein, which binds Pγ and causes constitutive activation of the phototransduction thus leading to the absence of rod adaptation.

  15. Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin

    DEFF Research Database (Denmark)

    Huppke, Peter; Brendel, Cornelia; Kalscheuer, Vera

    2012-01-01

    of the protein. We also showed that AT-1 knockdown in HepG2 cells leads to reduced ceruloplasmin secretion, indicating that the low copper in serum is due to reduced ceruloplasmin levels and is not a sign of copper deficiency. The severity of the phenotype implies an essential role of AT-1 in proper...... or compound heterozygous mutations for all affected subjects in SLC33A1 encoding a highly conserved acetylCoA transporter (AT-1) required for acetylation of multiple gangliosides and glycoproteins. The mutations were found to cause reduced or absent AT-1 expression and abnormal intracellular localization......, hearing loss, and severe developmental delay. Cerebral MRI showed pronounced cerebellar hypoplasia and hypomyelination. Homozygosity mapping was performed and displayed a region of commonality among three families at chromosome 3q25. Deep sequencing and conventional sequencing disclosed homozygous...

  16. Congenital adrenal hyperplasia: Case report.

    OpenAIRE

    Jaime Avaria E.; María José Vargas F.; Loreto Triviño F.; Andrea Gleisner E.

    2013-01-01

    INTRODUCTION: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease whose main cause is the deficiency of 21-hydroxylase, an enzyme involved in the synthesis of cortisol and aldosterone. There are two forms of CAH, a classical and nonclassical form, being the first objective of analysis in the clinical case. Its clinical manifestations vary in severity, depending on the level of hormone deficiency. Within the classic is described the salt-wasting form, whose consequences are ...

  17. UNILATERAL SENSORINEURAL DEAFNESS IN SCHOOL CHILDREN; A CLINICAL AND AUDIOLOGICAL EVALUATION AT A TERTIARY HOSPITAL OF TELANGANA

    Directory of Open Access Journals (Sweden)

    Harish Chandra Reddy

    2016-01-01

    Full Text Available INTRODUCTION Interpersonal communication, day to day activities, learning language and acquiring grades in the school are important parts in the life of school going children. Unilateral or bilateral Loss of hearing affects education and the child feels handicapped socially, emotionally, and scholastically. Such children lose grades and retained in the same class affecting them emotionally. The present study was conducted in order to find out the various causes of unilateral Sensorineural Hearing Loss (USNHL in children and to study role of various audiological findings in diagnosing the cause of impaired hearing in children. AIMS AND OBJECTIVES To find out the possible etiological causes and study the role of various audiological tests in finding the causes of unilateral impaired hearing in children. MATERIALS AND METHODS A prospective study was conducted in the Department of ENT of a tertiary Hospital attached to a Medical College in Warangal, Telangana. A total of 346 children aged between 4 and 15 years attended presenting with complaints of impaired hearing. Among them 73 children with unilateral sensorineural deafness were included in the study. After a thorough ENT examination subjective tests like pure tone audiometry and behavioral observation audiometry and objective tests like impedance audiometry, Oto-acoustic emissions (OAE, and brainstem evoked response audiometry (BERA were performed. RESULTS While identifying the possible etiological cause of USNHL, OAE revealed 56.16% REFER and 43.83% PASS results. Impedance audiometric results showed 71.22% as Type A Tympanogram. Pure tone audiometric results were mostly showed severe and profound hearing losses together accounting to 87.66%. BERA findings were mostly on severe and profound hearing loss (90.40%. No children with syndromic or cranio-facial abnormalities were found. CONCLUSIONS A prospective Hospital based study of school children with USNHL showed acquired nature of the

  18. Genetics of Congenital Heart Disease: Past and Present.

    Science.gov (United States)

    Muntean, Iolanda; Togănel, Rodica; Benedek, Theodora

    2017-04-01

    Congenital heart disease is the most common congenital anomaly, representing an important cause of infant morbidity and mortality. Congenital heart disease represents a group of heart anomalies that include septal defects, valve defects, and outflow tract anomalies. The exact genetic, epigenetic, or environmental basis of congenital heart disease remains poorly understood, although the exact mechanism is likely multifactorial. However, the development of new technologies including copy number variants, single-nucleotide polymorphism, next-generation sequencing are accelerating the detection of genetic causes of heart anomalies. Recent studies suggest a role of small non-coding RNAs, micro RNA, in congenital heart disease. The recently described epigenetic factors have also been found to contribute to cardiac morphogenesis. In this review, we present past and recent genetic discoveries in congenital heart disease.

  19. Motor proficiency and dynamic visual acuity in children with bilateral sensorineural hearing loss.

    Science.gov (United States)

    Martin, Willemien; Jelsma, Jennifer; Rogers, Christine

    2012-10-01

    Due to the close relationship between the cochlea and the peripheral vestibular system, the function of the vestibular system may be impaired in children with sensorineural hearing loss. The aims of this study were to determine the prevalence of impairments of motor performance and dynamic visual acuity, and the nature and extent of interaction between these in children with sensorineural hearing loss between the ages of 4 and 14 years. This research utilized a correlational, cross-sectional, descriptive design. Thirty-two children with sensorineural hearing loss were matched according to age and gender with children with no hearing impairment. Motor performance was evaluated by means of the Movement Assessment Battery for Children-2 and dynamic visual acuity was evaluated with the dynamic visual acuity test. The performances of the two groups on the different tests were then compared. The one-sided chi-square test or Fisher's exact test was used to determine whether there was any association between sensorineural hearing loss, impaired motor performance and poor dynamic visual acuity. The Mann-Whitney U-test was used to determine the difference between children with sensorineural hearing loss and those with normal hearing on the Movement Assessment Battery for Children-2. Forward stepwise regression was used to establish the predictors of the Movement Assessment Battery for Children-2 total standard score. The Kruskal-Wallis test was used to compare scores of children with normal hearing and those with a mild to moderate sensorineural hearing loss on the Movement Assessment Battery for Children-2. Reduced dynamic visual acuity is associated with sensorineural hearing loss (p=0.026). Motor performance is dependent on dynamic visual acuity and severity of sensorineural hearing loss (r(2)=0.41, p=0.001). The results of this study indicate that in children with sensorineural hearing loss, the prevalence of reduced dynamic visual acuity is 15.6% and of motor impairment

  20. Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia.

    Science.gov (United States)

    Royer-Bertrand, Beryl; Castillo-Taucher, Silvia; Moreno-Salinas, Rodrigo; Cho, Tae-Joon; Chae, Jong-Hee; Choi, Murim; Kim, Ok-Hwa; Dikoglu, Esra; Campos-Xavier, Belinda; Girardi, Enrico; Superti-Furga, Giulio; Bonafé, Luisa; Rivolta, Carlo; Unger, Sheila; Superti-Furga, Andrea

    2015-11-24

    We and others have reported mutations in LONP1, a gene coding for a mitochondrial chaperone and protease, as the cause of the human CODAS (cerebral, ocular, dental, auricular and skeletal) syndrome (MIM 600373). Here, we delineate a similar but distinct condition that shares the epiphyseal, vertebral and ocular changes of CODAS but also included severe microtia, nasal hypoplasia, and other malformations, and for which we propose the name of EVEN-PLUS syndrome for epiphyseal, vertebral, ear, nose, plus associated findings. In three individuals from two families, no mutation in LONP1 was found; instead, we found biallelic mutations in HSPA9, the gene that codes for mHSP70/mortalin, another highly conserved mitochondrial chaperone protein essential in mitochondrial protein import, folding, and degradation. The functional relationship between LONP1 and HSPA9 in mitochondrial protein chaperoning and the overlapping phenotypes of CODAS and EVEN-PLUS delineate a family of "mitochondrial chaperonopathies" and point to an unexplored role of mitochondrial chaperones in human embryonic morphogenesis.

  1. Ocular Disorders in Turkish Children with Sensorineural Hearıng Loss: A Cross-Sectional Study and Literature Review.

    Science.gov (United States)

    Ozer, Pinar Altiaylik; Kabatas, Emrah Utku; Ertugrul, Gokce Tasdemir; Kurtul, Bengi Ece; Kaygusuz, Umut; Ozgursoy, Selmin Karatayli

    2016-09-14

    To investigate types and frequencies of ocular disorders in children with sensorineural hearing loss (SNHL), and to emphasize the importance of ophthalmological examination in these children. A retrospective analysis of the examination records of children examined in our instutititon between January 2011 and September 2014 was performed. Ocular disorders of children with SHNL were selectively reviewed. Among 55340 patients, SNHL was present in 110 (0.2%). SNHL was bilateral in 104 patients (94.5%) and unilateral in 6 (5.5%). Ninety-one cases had congenital hearing loss (83%), and 19 (17%) had acquired SNHL. Forty cases (36%) had an ocular disorder, either refractive or non-refractive or both. Seventy cases (64%) had normal ocular examination. No difference was found between congenital or acquired SNHL cases in terms of possessing an ocular disorder (p=0.0962). The most common ocular abnormality was refractive error, mainly hypermetropia (21%). There was no significant difference between the prevalences of ocular abnormalities among cases with different lateralites or severities of SNHL (p=0.051, p=0.874, respectively). Twenty-six cases (23.6%) had SNHL as a component of a genetically defined syndrome. All of them had coexisting refractive or non-refractive ocular abnormalities. Some genetic, non-syndromic abnormalities, including Achondroplasia, Celiac disease, and focal segmental glomerulosclerosis, were diagnosed in four cases, among whom refractive errors and/or strabismus were detected. Due to the common coexistence of ocular problems and SNHL in children, ophthalmological screening is crucial. Families and healthcare providers should be informed about the critical role of ophthalmic assesment in these children for their future quality of life.

  2. Congenital cholesteatoma of the infratemporal fossa with congenital aural atresia and mastoiditis: a case report

    Directory of Open Access Journals (Sweden)

    Abdel-Aziz Mosaad

    2012-06-01

    Full Text Available Abstract Background Congenital cholesteatoma may be expected in abnormally developed ear, it may cause bony erosion of the middle ear cleft and extend to the infratemporal fossa. We present the first case of congenital cholesteatoma of the infratemporal fossa in a patient with congenital aural atresia that has been complicated with acute mastoiditis. Case presentation A sixteen year old Egyptian male patient presented with congenital cholesteatoma of the infratemporal fossa with congenital aural atresia complicated with acute mastoiditis. Two weeks earlier, the patient suffered pain necessitating hospital admission, magnetic resonance imaging revealed a soft tissue mass in the right infratemporal fossa. On presentation to our institute, Computerized tomography was done as a routine, it proved the diagnosis of mastoiditis, pure tone audiometry showed an air-bone gap of 60 dB. Cortical mastoidectomy was done for treatment of mastoiditis, removal of congenital cholesteatoma was carried out with reconstruction of external auditory canal. Follow-up of the patient for 2 years and 3 months showed a patent, infection free external auditory canal with an air-bone gap has been reduced to 35db. One year after the operation; MRI was done and it showed no residual or recurrent cholesteatoma. Conclusions Congenital cholesteatoma of the infratemporal fossa in cases of congenital aural atresia can be managed safely even if it was associated with mastoiditis. It is an original case report of interest to the speciality of otolaryngology.

  3. Refinement of the locus for non-syndromic sensorineural deafness ...

    Indian Academy of Sciences (India)

    Non-syndromic X-linked deafness is a rare form of genetic deafness in humans accounting for a small proportion of all hereditary hearing loss. Different clinical forms of non-syndromic X-linked deafness have been described, and most of these have been mapped. Here, we report a Chinese family affected by a congenital ...

  4. Clinical and genetic characteristics of congenital hypothyroidism due to mutations in the thyroid peroxidase (TPO) gene in Israelis.

    Science.gov (United States)

    Tenenbaum-Rakover, Yardena; Mamanasiri, Sunee; Ris-Stalpers, Carrie; German, Alina; Sack, Joseph; Allon-Shalev, Stavit; Pohlenz, Joachim; Refetoff, Samuel

    2007-05-01

    Iodide organification defect (IOD) is characterized by a reduced ability of the thyroid gland to retain iodide and results in hypothyroidism. Mutations in the thyroid peroxidase (TPO) gene are a frequent cause of IOD. While TPO mutations have been identified in various populations, none have been reported in Israeli patients with IOD. The objectives of this study were to characterize the molecular basis of IOD in an Israeli Arab-Muslim population and to analyse the clinical, neurological and imaging data of patients with TPO mutations followed for up to 29 years. Twenty-two patients from six core families with congenital hypothyroidism (CH) and IOD living in the same region. All subjects underwent clinical, hormonal and imaging evaluation. The TPO gene was directly sequenced and the presence of specific mutations among family members was determined by restriction fragment length polymorphism (RFLP). All patients had congenital and persistent primary hypothyroidism. The thyroid gland was demonstrated in all subjects by technetium (99mTc) scans. A positive perchlorate discharge test (mean 87%) was indicative of IOD. Enlargement of the thyroid gland was shown in 64% of our patients, mostly with multinodular appearance, and in some with retrosternal invasion. Neurological complications were observed in 13 patients (59%). Four subjects, who carry two different TPO mutations, had sensorineural deafness. Two previously described TPO gene mutations [G1567A (G493S) and C1708T (R540X)] and one novel TPO gene mutation [C965T (S292F)] were identified. The two previously described mutations were present in 90% of the subjects. Haplotyping suggested a distant common ancestry for each of these two mutations. Three different TPO gene mutations were found to be responsible for IOD in a consanguineous Israeli population. The high rate of development of multinodular glands (MNGs) in our cohort of patients indicates the need for long-term follow-up of patients with TPO gene mutations.

  5. Congenital mesenteric hernia in neonates: Still a dilemma

    Directory of Open Access Journals (Sweden)

    Parkash Mandhan

    2015-01-01

    Full Text Available Congenital transmesenteric hernia in neonates is a rare cause of intestinal obstruction with devastating outcomes and still remains a challenge to diagnose pre-operatively. Patients are often managed with emergency surgical exploration and may need bowel resection. We present 2 neonates with small bowel obstruction secondary to strangulated transmesenteric hernia through a congenital defect in the small bowel mesentery, which were managed successfully. We have also reviewed the literature about congenital transmesenteric hernia in neonates.

  6. Knowledge and Awareness of Congenital Cytomegalovirus Among Women

    Science.gov (United States)

    Jeon, Jiyeon; Victor, Marcia; Adler, Stuart P.; Arwady, Abigail; Demmler, Gail; Fowler, Karen; Goldfarb, Johanna; Keyserling, Harry; Massoudi, Mehran; Richards, Kristin; Staras, Stephanie A. S.; Cannon, Michael J.

    2006-01-01

    Background. Congenital cytomegalovirus (CMV) infection is a leading cause of disabilities in children, yet the general public appears to have little awareness of CMV. Methods. Women were surveyed about newborn infections at 7 different geographic locations. Results. Of the 643 women surveyed, 142 (22%) had heard of congenital CMV. Awareness increased with increasing levels of education (P congenital CMV, and even fewer were aware of prevention strategies. PMID:17485810

  7. CT findings of congenital transmesenteric hernia: case report

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Hyun Cheol; Kim, Young Tong; Shin, Hyeong Cheol; Kim, Hyung Hwan; Bae, Won Kyung; Kim, Il Young [Cheonan Hospital, Cheonan (Korea, Republic of); Park, Seong Jin [Bucheon Hospital, Bucheon (Korea, Republic of)

    2003-03-01

    Transmesenteric hernia occurs usually in adult patients who had history of an abdominal surgery or blunt abdominal trauma. Congenital mesenteric defect is a relatively common cause of internal hernia in children. However, the report of CT findings of congenital transmesenteric hernia is relatively rare. Thus, we report a case of congenital transmesenteric hernia occurring in a 13-year-old girl with intestinal obstructive symptoms, and include the CT findings.

  8. Congenital asymmetric crying face: a case report

    Directory of Open Access Journals (Sweden)

    Semra Kara

    2011-12-01

    Full Text Available Congenital asymmetric crying face is an anomalia caused by unilateral absence or weakness of depressor anguli oris muscle The major finding of the disease is the absence or weakness in the outer and lower movement of the commissure during crying. The other expression muscles are normal and the face is symmetric at rest. The asymmetry in congenital asymmetric crying face is most evident during infancy but decreases by age. Congenital asymmetric crying face can be associated with cervicofacial, musclebone, respiratory, genitourinary and central nervous system anomalia. It is diagnosed by physical examination. This paper presents a six days old infant with Congenital asymmetric crying face and discusses the case in terms of diagnosis and disease features.

  9. Polymicrogyria and Congenital Parvovirus B19 Infection

    Directory of Open Access Journals (Sweden)

    Grant S. Schulert

    2011-12-01

    Full Text Available Fetal parvovirus B19 infection causes anemia, hydrops, and pregnancy loss but is generally not considered teratogenic. Nevertheless, disturbances of neuronal migration have been described with congenital parvovirus infection. We evaluated a term infant with congenital parvovirus disease and polymicrogyria. We compared this case with four other reports of central nervous system disease after birth to parvovirus-infected mothers. After an extensive diagnostic evaluation, this infant was found to have congenital parvovirus disease with severe anemia and nonimmune hydrops as well as extensive polymicrogyria. Although rare, this report and literature review suggest that parvovirus B19 has the potential to disrupt normal neurodevelopment. We suggest that infants with severe congenital parvovirus infection have close developmental surveillance and if symptomatic undergo neuroimaging to assess for disorders of neuromigration.

  10. Congenital anomalies after assisted reproductive technology

    DEFF Research Database (Denmark)

    Pinborg, Anja; Henningsen, Anna-Karina Aaris; Malchau, Sara Sofie

    2013-01-01

    Worldwide, more than 5 million children have been born after assisted reproductive technology (ART), and in many developed countries ART infants represent more than 1% of the birth cohorts. It is well known that ART children are at increased risk of congenital malformations even after adjustment...... for known confounders such as maternal age. The proportion of ART children is not negligible, and knowledge about the causes of the higher risk of congenital malformations is crucial to develop prevention strategies to reduce the future risk in ART children. The aim of this review is to summarize...... the literature on the association between ART and congenital anomalies with respect to subfertility, fertility treatment other than ART, and different ART methods including intracytoplasmic sperm injection, blastocyst culture, and cryotechniques. Trends over time in ART and congenital anomalies will also...

  11. Preventing congenital toxoplasmosis.

    Science.gov (United States)

    Lopez, A; Dietz, V J; Wilson, M; Navin, T R; Jones, J L

    2000-03-31

    Toxoplasmosis is caused by infection with the protozoan parasite Toxoplasma gondii. Acute infections in pregnant women can be transmitted to the fetus and cause severe illness (e.g., mental retardation, blindness, and epilepsy). An estimated 400-4,000 cases of congenital toxoplasmosis occur each year in the United States. Of the 750 deaths attributed to toxoplasmosis each year, 375 (50%) are believed to be caused by eating contaminated meat, making toxoplasmosis the third leading cause of foodborne deaths in this country. Toxoplasma can be transmitted to humans by three principal routes: a) ingestion of raw or inadequately cooked infected meat; b) ingestion of oocysts, an environmentally resistant form of the organism that cats pass in their feces, with exposure of humans occurring through exposure to cat litter or soil (e.g., from gardening or unwashed fruits or vegetables); and c) a newly infected pregnant woman passing the infection to her unborn fetus. RECOMMENDATIONSFOR PREVENTION: Toxoplasma infection can be prevented in large part by a) cooking meat to a safe temperature (i.e., one sufficient to kill Toxoplasma); b) peeling or thoroughly washing fruits and vegetables before eating; c) cleaning cooking surfaces and utensils afterthey have contacted raw meat, poultry, seafood, or unwashed fruits or vegetables; d) pregnant women avoiding changing cat litter or, if no one else is available to change the cat litter, using gloves, then washing hands thoroughly; and e) not feeding raw or undercooked meat to cats and keeping cats inside to prevent acquisition of Toxoplasma by eating infected prey. Priorities for research were discussed at a national workshop sponsored by CDC in September 1998 and include a) improving estimates of the burden of toxoplasmosis, b) improving diagnostic tests to determine when a person becomes infected with Toxoplasma, and c) determining the applicability of national screening programs. Many cases of congenital toxoplasmosis can be

  12. Congenital fiber type disproportion.

    Science.gov (United States)

    Kissiedu, Juliana; Prayson, Richard A

    2016-04-01

    Type I muscle fiber atrophy in childhood can be encountered in a variety of neuromuscular disorders. Congenital fiber type disproportion (CFTD) is one such condition which presents as a nonprogressive muscle weakness. The diagnosis is often made after excluding other differential diagnostic considerations. We present a 2-year-9-month-old full term boy who presented at 2 months with an inability to turn his head to the right. Over the next couple of years, he showed signs of muscle weakness, broad based gait and a positive Gower's sign. He had normal levels of creatine kinase and normal electromyography. A biopsy of the vastus lateralis showed a marked variation in muscle fiber type. The adenosine triphosphate (ATP)-ase stains highlighted a marked type I muscle atrophy with rare scattered atrophic type II muscle fibers. No abnormalities were observed on the nicotinamide adenine dinucleotide (NADH), succinate dehydrogenase (SDH) or cytochrome oxidase stained sections. Ragged red fibers were not present on the trichrome stain. Abnormalities of glycogen or lipid deposition were not observed on the periodic acid-Schiff or Oil-Red-O stains. Immunostaining for muscular dystrophy associated proteins showed normal staining. Ultrastructural examination showed a normal arrangement of myofilaments, and a normal number and morphology for mitochondria. A diagnosis of CFTD was made after excluding other causes of type I atrophy including congenital myopathy. The lack of specific clinical and genetic disorder associated with CFTD suggests that it is a spectrum of a disease process and represents a diagnosis of exclusion. Copyright © 2015 Elsevier Ltd. All rights reserved.

  13. Genetics Home Reference: congenital hypothyroidism

    Science.gov (United States)

    ... Facebook Twitter Home Health Conditions Congenital hypothyroidism Congenital hypothyroidism Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Congenital hypothyroidism is a partial or complete loss of function ...

  14. Multislice spiral computed tomography imaging in congenital inner ear malformations.

    Science.gov (United States)

    Ma, Hui; Han, Ping; Liang, Bo; Tian, Zhi-liang; Lei, Zi-qiao; Kong, Wei-jia; Feng, Gan-sheng

    2008-01-01

    The purpose of this study is to evaluate the usefulness of multislice spiral computed tomography (CT) in the diagnosis of congenital inner ear malformations. Forty-four patients with sensorineural hearing loss were examined on a Somatom Sensation 16 (Siemens) CT scanner. The 3-dimensional reconstructions and multiplanar reformation (MPR) were performed using the volume-rendering technique (VRT) on the workstation. Of the 44 patients examined for this study, 25 patients were found to be normal and 19 patients (36 ears) were diagnosed with congenital inner ear malformations. Of the malformations, the axial, MPR, and VRT images can all display the site and degree in 33 of the ears. Volume-rendering technique images were superior to the axial images in displaying the malformations in 3 ears with small lateral semicircular canal malformations. The common malformations were Michel deformity (1 ear), common cavity deformity (3 ears), incomplete partition I (3 ears), incomplete partition II (Mondini deformity) (5 ears), vestibular and semicircular canal malformations (14 ears), enlarged vestibular aqueduct (16 ears, 6 of which had other malformations), and internal auditory canal malformation (8 ears, all accompanied by other malformations). Multislice spiral CT allows a comprehensively assessment of various congenital inner ear malformations through high-quality MPR and VRT reconstructions. Volume-rendering technique images can display the site and degree of the malformation 3-dimensionally and intuitionisticly. This is very useful to the cochlear implantation.

  15. Congenital Cytomegalovirus Infection: Molecular Mechanisms Mediating Viral Pathogenesis

    Science.gov (United States)

    Schleiss, Mark R.

    2013-01-01

    Human cytomegalovirus (CMV) is responsible for approximately 40,000 congenital infections in the United States each year. Congenital CMV disease frequently produces serious neurodevelopmental disability, as well as vision impairment and sensorineural hearing loss. Development of a CMV vaccine is therefore considered to be a major public health priority. The mechanisms by which CMV injures the fetus are complex and likely include a combination of direct fetal injury induced by pathologic virally-encoded gene products, an inability of the maternal immune response to control infection, and the direct impact of infection on placental function. CMV encodes gene products that function, both at the RNA and the protein level, to interfere with many cellular processes. These include gene products that modify the cell cycle; interfere with apoptosis; induce an inflammatory response; mediate vascular injury; induce site-specific breakage of chromosomes; promote oncogenesis; dysregulate cellular proliferation; and facilitate evasion of host immune responses. This minireview summarizes current concepts regarding these aspects of the molecular virology of CMV and the potential pathogenic impact of viral gene expression on the developing fetus. Areas for potential development of novel therapeutic intervention are suggested for improving the outcome of this disabling congenital infection. PMID:21827434

  16. Screening for seemingly healthy newborns with congenital cytomegalovirus infection by quantitative real-time polymerase chain reaction using newborn urine: an observational study

    OpenAIRE

    Yamaguchi, Akira; Oh-ishi, Tsutomu; Arai, Takashi; Sakata, Hideaki; Adachi, Nodoka; Asanuma, Satoshi; Oguma, Eiji; Kimoto, Hirofumi; Matsumoto, Jiro; Fujita, Hidetoshi; Uesato, Tadashi; Fujita, Jutaro; Shirato, Ken; Ohno, Hideki; Kizaki, Takako

    2017-01-01

    Objective Approximately 8?10% of newborns with asymptomatic congenital cytomegalovirus (cCMV) infection develop sensorineural hearing loss (SNHL). However, the relationship between CMV load, SNHL and central nervous system (CNS) damage in cCMV infection remains unclear. This study aimed to examine the relationship between urinary CMV load, SNHL and CNS damage in newborns with cCMV infection. Study design The study included 23?368 newborns from two maternity hospitals in Saitama Prefecture, Ja...

  17. Mitochondrial disorders in congenital myopathies

    Directory of Open Access Journals (Sweden)

    D. A. Kharlamov

    2014-01-01

    Full Text Available The literature review gives data on the role of mitochondrial disorders in the pathogenesis of congenital myopathies: congenital muscular dystrophies and congenital structural myopathies. It describes changes in congenital muscular dystrophies with type VI collagen, in myodystrophy with giant mitochondria, in congenital central core myopathies, myotubular myopathy, etc. Clinical and experimental findings are presented. Approaches to therapy for energy disorders in congenital myopathies are depicted.

  18. Contribution of Congenital Anomalies to Neonatal Mortality Rates in Malta.

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    Gatt, Miriam; England, Kathleen; Grech, Victor; Calleja, Neville

    2015-09-01

    Neonatal mortality is a public health concern, and congenital anomalies contribute significantly to this mortality. This paper describes trends in neonatal mortality in Malta separately for congenital anomaly and non-congenital anomaly causes. Data for neonatal deaths of 22-week gestation onwards registered between 1994-2013 were obtained from the National Mortality Register. Chi-square tests were used to analyse 5-year time trends and differences in proportions of causes of neonatal deaths. Neonatal mortality was compared with other European countries. Between 1994 and 2013, 441 neonatal deaths and 84 821 livebirths were registered, giving a neonatal mortality of 5.2 per 1000 livebirths. Congenital anomalies accounted for 36.7% (n = 162) of the neonatal deaths, while the remaining 63.3% (n = 279) were attributed to non-congenital causes. During the 20-year period, neonatal mortality due to non-congenital causes decreased from 4.6 per 1000 livebirths in 1994-98 to 2.5 per 1000 in 2009-13, while that due to congenital anomalies remained stable (2.0 per 1000 livebirths in 1994-98 and 2.2 per 1000 in 2009-13). This has resulted in comparatively higher proportions of neonatal deaths attributed to congenital anomalies in recent years (45.9% in 2009-13 vs. 29.9% in 1994-98). Comparing neonatal mortality reported from European countries, Malta has a high rate most marked for deaths due to congenital anomalies. During 1994-2013, neonatal mortality has decreased due to a decline of non-congenital causes of death, possibly related to improved health care. The proportionate neonatal mortality attributed to congenital anomalies has increased and is the highest reported from Europe. This may be explained by the fact that termination of pregnancy is illegal in Malta. © 2015 John Wiley & Sons Ltd.

  19. Oral steroid treatment for idiopathic sudden sensorineural hearing loss

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    Chen, Wei T.; Lee, Jui W.; Yuan, Chien H.; Chen, Rong F.

    2015-01-01

    Objectives: To describe the efficacy of long-term oral steroids in idiopathic sudden sensorineural hearing loss (ISSHL), and to explore potential prognosis factors, the relationship of hearing recovery outcome, and the recovery time-course in ISSHL. Methods: In this retrospective study, we analyzed 215 cases diagnosed with idiopathic unilateral sudden deafness between January 2003 and December 2012 at a regional hospital in southern Taiwan. All of them received oral steroid therapy and were followed for at least 3 months. Results: Young age, the presence of no other disease (diabetes, hypertension, or cardiovascular disease), treatment within 7 days of the onset of ISSHL, mild hearing loss, and audiograms with ascending curves had a statistically significant better hearing recovery. The average pure-tone audiometry (PTA) was 67.8±23.9 dB initially, and was improved between one month (51.6±28.7 dB) and 2 months post treatment (49.7±28.6 dB). The average last-visit PTA was 49.9±29.2 dB. Conclusion: Approximately one third of patients had full recovery in hearing, one third had partial recovery, and approximately one third did not recover from hearing loss. In addition, the hearing level remained relatively stable following 2 months of treatment. More than 2 months of oral steroid therapy for ISSHL is not recommended because no additional benefits were evidenced. PMID:25737170

  20. Sensorineural hearing loss and celiac disease: a coincidental finding.

    Science.gov (United States)

    Volta, Umberto; Ferri, Gian Gaetano; De Giorgio, Roberto; Fabbri, Angela; Parisi, Claudia; Sciajno, Laura; Castellari, Alessandra; Fiorini, Erica; Piscaglia, Maria; Barbara, Giovanni; Granito, Alessandro; Pirodda, Antonio

    2009-08-01

    Celiac disease (CD) can be associated with a variety of extraintestinal manifestations, including neurological diseases. A new neurological correlation has been found between CD and sensorineural hearing loss (SNHL). To verify the association between SNHL and CD, and to establish whether the neurological hearing impairment in CD is related to nonorgan-specific and antineuronal antibodies, as well as the presence of autoimmune disorders. A sample of 59 consecutive biopsy- and serologically proven CD patients were studied. Among CD patients, 11 were newly diagnosed and 48 were on a gluten-free diet. Hearing function was assessed by audiometric analysis in all CD patients as well as in 59 age- and sex-matched controls. Patients were tested for a panel of immune markers including nonorgan-specific autoantibodies and antineuronal antibodies. SNHL was detected in five CD patients (8.5%) and in two controls (3.4%). In one patient, the SNHL was bilateral, whereas the remaining four had a monolateral impairment. The prevalence of SNHL was not significantly different between CD patients and controls. At least one of the antibodies tested for was positive in two of the five CD patients with SNHL and in 12 of the 54 CD patients without SNHL. Antineuronal antibodies to central nervous system antigens were consistently negative in the five CD patients with SNHL. Only one of the five CD patients with SNHL had Hashimoto thyroiditis. SNHL and CD occur coincidentally. Hearing function should be assessed only in CD patients with clinical signs of hearing deficiency.

  1. Otolithic organ function in patients with profound sensorineural hearing loss

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    Yujuan Zhou

    2016-06-01

    Full Text Available Profound sensorineural hearing loss (PSHL is not uncommonly encountered in otology. In clinics, there is a high incidence of otolithic damage in patients with PSHL, but relevant reports are few. Sharing a continuous membranous structure and similar receptor cell ultrastructures, the cochlea and vestibule may be susceptible to the same harmful factors. Disorders of the inner ear may result in a variety of manifestations, including vertigo, spatial disorientation, blurred vision, impaired articulation, and hearing impairment. Considering the diversity of clinical symptoms associated with PSHL with otolithic dysfunction, it may be frequently misdiagnosed, and objective means of testing the function of otolithic organs should be recommended for hearing-impaired patients. Vestibular-evoked myogenic potentials (VEMPs via air-conducted sound are of great importance for the diagnosis of otolithic function. Hearing devices such as cochlear implants are commonly accepted treatments for PSHL, and early identification and treatment of vestibular disorders may increase the success rate of cochlear implantation. Therefore, it is necessary to increase awareness of otolithic functional states in patients with PSHL.

  2. Molecular Investigation of Pediatric Portuguese Patients with Sensorineural Hearing Loss

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    Célia Nogueira

    2011-01-01

    Full Text Available The understanding of the molecular genetics in sensorineural hearing loss (SNHL has advanced rapidly during the last decade, but the molecular etiology of hearing impairment in the Portuguese population has not been investigated thoroughly. To provide appropriate genetic testing and counseling to families, we analyzed the whole mitochondrial genome in 95 unrelated children with SNHL (53 nonsyndromic and 42 syndromic and searched for variations in two frequent genes, GJB2 and GJB6, in the non-syndromic patients. Mutations in mtDNA were detected in 4.2% of the cases, including a hitherto undescribed change in the mtDNA-tRNATrp gene (namely, m.5558A>G. We also identified mono- or biallelic GJB2 mutations in 20 of 53 non-syndromic cases and also detected two novel mutations (p.P70R and p.R127QfsX84. Our data further reinforce the notion that genetic heterogeneity is paramount in children with SNHL.

  3. Gait performance of children and adolescents with sensorineural hearing loss.

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    Melo, Renato de Souza

    2017-09-01

    Several studies have demonstrated that children with sensorineural hearing loss (SNHL) may exhibit balance disorders, which can compromise the gait performance of this population. Compare the gait performance of normal hearing (NH) children and those with SNHL, considering the sex and age range of the sample, and analyze gait performance according to degrees of hearing loss and etiological factors in the latter group. This is a cross-sectional study that assessed 96 students, 48 NH and 48 with SNHL, aged between 7 and 18 years. The Brazilian version of the Dynamic Gait Index (DGI) was used to analyze gait and the Mann-Whitney test for statistical analysis. The group with SNHL obtained lower average gait performance compared to NH subjects (p=0.000). This was also observed when the children were grouped by sex female and male (p=0.000). The same difference occurred when the children were stratified by age group: 7-18 years (p=0.000). The group with severe and profound hearing loss exhibited worse gait performance than those with mild and moderate loss (p=0.048) and children with prematurity as an etiological factor demonstrated the worst gait performance. The children with SNHL showed worse gait performance compared to NH of the same sex and age group. Those with severe and profound hearing loss and prematurity as an etiological factor demonstrated the worst gait performances. Copyright © 2017 Elsevier B.V. All rights reserved.

  4. Association between Family History and Idiopathic Sudden Sensorineural Hearing Loss.

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    Binnetoğlu, Adem; Yumuşakhuylu, Ali Cemal; Demir, Berat; Bağlam, Tekin; Derinsu, Ufuk; Sarı, Murat

    2015-04-01

    Sudden sensorineural hearing loss (SSNHL) is defined as hearing loss of at least 30 dB occurring within three days over at least three contiguous frequencies. The etiology of SSNHL cannot always be precisely determined; in such cases, this condition is termed idiopathic SSNHL (ISSNHL). This unique study investigates the relationship between ISSNHL and positive family history for ISSNHL. In total, 125 patients diagnosed with ISSNHL were retrospectively reviewed. The presence of ISSNHL in the family medical history and degree of kinship of family members diagnosed with ISSNHL were determined. For univariate analysis, a chi-squared test and/or Fisher's exact test was used for between-group comparisons of qualitative variables; a t-test was used for quantitative variables. Significant variables in the univariate analysis were introduced into stepwise logistic regression for multivariate analysis. Pfamily medical history of ISSNHL, whereas 83 (66.4%) did not. A statistically significant association between the development of ISSNHL and a family history of ISSNHL was observed (p<0.05). Our study supports an association between ISSNHL and genetic predisposition. Proving genetic susceptibility to ISSNHL will lead to improvements in the prediction, early diagnosis, and treatment of this disease.

  5. MicroRNAs in sensorineural diseases of the ear

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    Kathy eUshakov

    2013-12-01

    Full Text Available Non-coding microRNAs have a fundamental role in gene regulation and expression in almost every multicellular organism. Only discovered in the last decade, microRNAs are already known to play a leading role in many aspects of disease. In the vertebrate inner ear, microRNAs are essential for controlling development and survival of hair cells. Moreover, dysregulation of microRNAs has been implicated in sensorineural hearing impairment, as well as in other ear diseases such as cholesteatomas, vestibular schwannomas and otitis media. Due to the inaccessibility of the ear in humans, animal models have provided the optimal tools to study microRNA expression and function, in particular mice and zebrafish. A major focus of current research has been to discover the targets of the microRNAs expressed in the inner ear, in order to determine the regulatory pathways of the auditory and vestibular systems. The potential for microRNA manipulation in development of therapeutic tools for hearing impairment is as yet unexplored, paving the way for future work in the field.

  6. Prognostic predictors of sudden sensorineural hearing loss in defibrinogenation therapy.

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    Oya, Ryohei; Horii, Arata; Akazawa, Hitoshi; Osaki, Yasuhiro; Inohara, Hidenori

    2016-01-01

    Defibrinogenation therapy rather than corticosteroids therapy should be chosen for patients specifically with profound hearing loss and with initial high fibrinogen. Corticosteroids therapy is the standard treatment for sudden sensorineural hearing loss (SSNHL) and prognostic factors by this therapy were reported. Defibrinogenation therapy is one of the treatment options for SSNHL. Aims of this study were to identify prognostic factors and correlative markers with hearing improvement in treating SSNHL by defibrinogenation therapy. During the early phase of the study, consecutive 61 patients were treated by defibrinogenation therapy with batroxobin (50 units), whereas corticosteroids (500 mg/day of hydrocortisone tapered by 9 days) were used for consecutive 64 patients during the late phase. Blood data that could predict a complete recovery were identified. Coagulation/fibrinolysis markers correlated with hearing improvement by defibrinogenation therapy were investigated. Although there were no overall differences in hearing improvement between the two therapies, recovery rate in profound hearing loss patients was better in defibrinogenation therapy. In patients who showed complete recovery, serum fibrinogen level before treatment was significantly higher in the defibrinogenation group than the corticosteroid group. Responses of several fibrinolysis markers to defibrinogenation therapy evaluated by post-/pre-values were negatively correlated with hearing improvement.

  7. A Clinical Analysis of Sudden Sensorineural Hearing Loss Cases

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    Lee, Hyun Soo; Lee, You Jae; Kang, Bo Sung; Lee, Ji Sung

    2014-01-01

    Background and Objectives High-dose systemic steroid therapy is the mainstay treatment for sudden sensorineural hearing loss (SSNHL). Recovery rates from SSNHL range are about 47-63% and are influenced by various prognostic factors. To evaluate the prognostic value of specific clinical parameters, we reviewed 289 cases by clinical and statistical analysis. Subjects and Methods This study included 289 patients with SSNHL who visited the Department of Otolaryngology at Soonchunhyang University Hospital from January 2005 to December 2012. The cases were reviewed retrospectively based on clinical charts. Hearing improvement was evaluated in relation to pure-tone audiogram results, duration between SSNHL onset and time of initial treatment, seasonal incidence, dizziness, patient age, degree of hearing loss, patterns of initial pure-tone audiogram and presence of underlying disease. Results Hearing improvement was observed in 196 of 289 (67.8%) patients; such improvement began within 7 days in most patients, followed by rapid hearing recovery. Cases that failed to show improvement within 14 days were unlikely to achieve hearing recovery. The more severe the hearing loss during the early stage, the lower the hearing recovery rates. Patients aged less than 60 years appear to have better prognosis of hearing improvement compared to those who are over 60 years. Conclusions Important prognostic factors for recovery in patients with SSNHL include the time of initiating treatment after symptom onset, the degree of early-stage hearing loss, and the age of the affected patient. PMID:25279228

  8. Glucocorticoid influence on prognosis of idiopathic sudden sensorineural hearing loss

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    Eduardo Amaro Bogaz

    2014-06-01

    Full Text Available INTRODUCTION: Idiopathic Sudden Sensorineural Hearing Loss (ISSHL is defined when a loss of at least 30 dB occurs in over 3 continuous frequencies, in up to 72 hours, of which etiology is not established, despite adequate investigation. Different types of treatment regimens have been proposed, but only glucocorticoids have shown some evidence of benefit in the literature. OBJECTIVE: To analyze whether the type of treatment or time of treatment with glucocorticoids have any influence on hearing recovery in ISSHL. METHODS: Observational retrospective cohort study. One hundred twenty-seven patients with ISSHL, treated at outpatient clinics between the years 2000 and 2010, were studied. We evaluated the prognostic correlation of the type of treatment and time to treatment with glucocorticoids and ISSHL. RESULTS: The absolute hearing gain and the relative hearing gain was as follows: 23.6 dB and 37.2%. Complete recovery was observed in 15.7% of patients, significant recovery in 27.6% and recovery in 57.5%. CONCLUSION: In this study, there was no difference between the use and nonuse of glucocorticoids in hearing improvement. However, when started within seven days after onset, the use of glucocorticoids was a factor of better prognosis.

  9. Sensorineural hearing loss after concurrent chemoradiotherapy in nasopharyngeal cancer patients

    International Nuclear Information System (INIS)

    Petsuksiri, Janjira; Sermsree, Achariyaporn; Thephamongkhol, Kullathorn; Keskool, Phawin; Thongyai, Kanthong; Chansilpa, Yaowalak; Pattaranutaporn, Pittayapoom

    2011-01-01

    Sensorineural hearing loss (SNHL) is one of the major long term side effects from radiation therapy (RT) in nasopharyngeal cancer (NPC) patients. This study aims to review the incidences of SNHL when treating with different radiation techniques. The additional objective is to determine the relationship of the SNHL with the radiation doses delivered to the inner ear. A retrospective cohort study of 134 individual ears from 68 NPC patients, treated with conventional RT and IMRT in combination with chemotherapy from 2004-2008 was performed. Dosimetric data of the cochlea were analyzed. Significant SNHL was defined as > 15 dB increase in bone conduction threshold at 4 kHz and PTA (pure tone average of 0.5, 1, 2 kHz). Relative risk (RR) was used to determine the associated factors with the hearing threshold changes at 4 kHz and PTA. Median audiological follow up time was 14 months. The incidence of high frequency (4 kHz) SNHL was 44% for the whole group (48.75% in the conventional RT, 37% with IMRT). Internal auditory canal mean dose of > 50 Gy had shown a trend to increase the risk of high frequency SNHL (RR 2.02 with 95% CI 1.01-4.03, p = 0.047). IMRT and radiation dose limitation to the inner ear appeared to decrease SNHL

  10. Congenital transmission of Chagas disease: a clinical approach.

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    Oliveira, Inés; Torrico, Faustino; Muñoz, Jose; Gascon, Joaquim

    2010-08-01

    Chagas disease is caused by the protozoan Trypanosoma cruzi and is an endemic zoonosis in the American continent. Thanks to the successful implementation of national programs for reducing the vectorial infestation and the strict control of blood-borne transmission of Chagas disease, the relative importance of congenital transmission has recently increased. Nowadays, in areas without vectorial transmission, congenital transmission has become the main way by which the disease has spread. This article reviews current knowledge on Chagas disease, focusing on the congenital transmission route. The public health implications of the increasing number of T. cruzi-infected immigrants and congenital transmission in nonendemic areas is also analyzed.

  11. Challenges in management of childhood sensorineural hearing loss in sub-Saharan Africa, Nigeria.

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    Lasisi, O A; Ayodele, J K; Ijaduola, G T A

    2006-04-01

    The evaluation of a hearing-impaired child attempts to determine the aetiology, the degree of hearing loss and intervention to aid speech and language. This remains a challenge to practising otolaryngologists, especially in the developing countries as 85-90% of causes of hearing losses were never discovered leading to delayed intervention and irreversible effects. In a review of children presenting at the otolaryngology outpatient in the University College Hospital, Ibadan, Nigeria, sensorineural hearing loss was found in 103, giving a hospital prevalence rate of 14%, we still perceived this figure to be unrepresentatively and low, probably due to poor access to medicare, poverty and other factors. Genetic factor accounted for 25%, followed by measles infections 13% and meningitis 8%. About 60% of them had educationally significant hearing loss at presentation. Access to hearing aid was poor as only 12.5% of the patients could afford it and the rest were managed by deaf training. We conclude by suggesting an audiologic programme which has the comprehensive function of neonatal and infant hearing screening, subsidized hearing aid services and hearing rehabilitation surgery.

  12. Generation and validation of a zebrafish model of EAST (epilepsy, ataxia, sensorineural deafness and tubulopathy syndrome

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    Fahad Mahmood

    2013-05-01

    Recessive mutations in KCNJ10, which encodes an inwardly rectifying potassium channel, were recently identified as the cause of EAST syndrome, a severe and disabling multi-organ disorder consisting of epilepsy, ataxia, sensorineural deafness and tubulopathy that becomes clinically apparent with seizures in infancy. A Kcnj10 knockout mouse shows postnatal mortality and is therefore not suitable for drug discovery. Because zebrafish are ideal for in vivo screening for potential therapeutics, we tested whether kcnj10 knockdown in zebrafish would fill this need. We cloned zebrafish kcnj10 and demonstrated that its function is equivalent to that of human KCNJ10. We next injected splice- and translation-blocking kcnj10 antisense morpholino oligonucleotides and reproduced the cardinal symptoms of EAST syndrome – ataxia, epilepsy and renal tubular defects. Several of these phenotypes could be assayed in an automated manner. We could rescue the morphant phenotype with complementary RNA (cRNA encoding human wild-type KCNJ10, but not with cRNA encoding a KCNJ10 mutation identified in individuals with EAST syndrome. Our results suggest that zebrafish will be a valuable tool to screen for compounds that are potentially therapeutic for EAST syndrome or its individual symptoms. Knockdown of kcnj10 represents the first zebrafish model of a salt-losing tubulopathy, which has relevance for blood pressure control.

  13. Sensorineural hearing loss degrades behavioral and physiological measures of human spatial selective auditory attention

    Science.gov (United States)

    Dai, Lengshi; Best, Virginia; Shinn-Cunningham, Barbara G.

    2018-01-01

    Listeners with sensorineural hearing loss often have trouble understanding speech amid other voices. While poor spatial hearing is often implicated, direct evidence is weak; moreover, studies suggest that reduced audibility and degraded spectrotemporal coding may explain such problems. We hypothesized that poor spatial acuity leads to difficulty deploying selective attention, which normally filters out distracting sounds. In listeners with normal hearing, selective attention causes changes in the neural responses evoked by competing sounds, which can be used to quantify the effectiveness of attentional control. Here, we used behavior and electroencephalography to explore whether control of selective auditory attention is degraded in hearing-impaired (HI) listeners. Normal-hearing (NH) and HI listeners identified a simple melody presented simultaneously with two competing melodies, each simulated from different lateral angles. We quantified performance and attentional modulation of cortical responses evoked by these competing streams. Compared with NH listeners, HI listeners had poorer sensitivity to spatial cues, performed more poorly on the selective attention task, and showed less robust attentional modulation of cortical responses. Moreover, across NH and HI individuals, these measures were correlated. While both groups showed cortical suppression of distracting streams, this modulation was weaker in HI listeners, especially when attending to a target at midline, surrounded by competing streams. These findings suggest that hearing loss interferes with the ability to filter out sound sources based on location, contributing to communication difficulties in social situations. These findings also have implications for technologies aiming to use neural signals to guide hearing aid processing. PMID:29555752

  14. Canal Paresis in Benign Paroxysmal Positional Vertigo Secondary to Sudden Sensorineural Hearing Loss.

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    Lee, Jong Bin; Choi, Seong Jun

    2015-12-01

    To review the clinical features of benign paroxysmal positional vertigo (BPPV) secondary to sudden sensorineural hearing loss (SNHL) and to analyze the correlation between canal paresis and the effectiveness of canalith repositioning procedures (CRPs) for the treatment. Study case series with chart review. Academic university hospital. We retrospectively reviewed 277 patients with BPPV. For sudden SNHL with a recent vertigo, patients underwent electronystagmography and bithermal caloric tests. We investigated the clinical characteristics including causes, type of involved semicircular canal, frequency of CRPs, treatment results, and canal paresis (CP). The diagnosis of BPPV accompanied by same-sided sudden SNHL was based on the results of head roll and Dix-Hallpike tests. Of 277 patients with BPPV, 24 (8.7%) had sudden SNHL. Multiple-canal involvement most commonly developed in post-sudden SNHL BPPV (p BPPV received a greater number of CRPs (2.95) than those with idiopathic BPPV (1.58) (p = 0.043). In patients with post-sudden SNHL BPPV, the average number of CRPs was 3.31 in the presence of CP and 2.1 sessions in the absence of CP (p = 0.030); the CP value was correlated with the frequency of CRPs (p = 0.020). In post-sudden SNHL BPPV, the worse the canal paresis becomes, the greater the number of CRPs will be needed for treatment; the simultaneous involvement of the posterior semicircular canal and horizontal semicircular canal is most common.

  15. Laboratory assessment of sudden sensorineural hearing loss: A case-control study.

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    Fasano, Tommaso; Pertinhez, Thelma A; Tribi, Lorenzo; Lasagni, Daniela; Pilia, Annalisa; Vecchia, Luigi; Baricchi, Roberto; Bianchin, Giovanni

    2017-10-01

    Sudden sensorineural hearing loss (SSHL) is an otologic emergency that affects five to 30 subjects per 100,000/year. The cause of SSHL remains unknown or uncertain in 70% to 90% of cases, and treatment decisions are usually made without knowing the etiology. Prospective case-control study. One hundred thirty-one idiopathic SSHL patients were recruited from January 2014 to June 2015 in concordance with the Statements of Clinical Practice Guideline and divided into groups according to the disease severity. A clinical laboratory assessment was completed on blood samples collected from SSHL patients and control subjects. Multivariable regression analysis was performed to investigate the association between laboratory data and SSHL basis. Only a few SSHL patients were positive for autoimmunity or viral infection. Statistically significant (P < .05) higher levels of blood glucose, glycated hemoglobin (HbA1C), lipoprotein (a), and factor VIII were found in SSHL patients compared to controls. Furthermore, blood glucose, HbA1C, uric acid, factor VIII, and homocysteine were significantly associated to disease severity. Gluco-metabolic, lipidic, and coagulative laboratory data support the vascular hypothesis for SSHL and its severity. 3b Laryngoscope, 127:2375-2381, 2017. © 2017 The American Laryngological, Rhinological and Otological Society, Inc.

  16. Sudden sensorineural hearing loss with positional vertigo: Initial findings of positional nystagmus and hearing outcomes.

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    Kim, Chang-Hee; Shin, Jung Eun; Yang, Young Soo; Im, Donghyuk

    2016-10-01

    To investigate the initial findings of positional nystagmus in patients with sudden sensorineural hearing loss (SSNHL) and positional vertigo, and to compare hearing improvement among patients with different types of positional nystagmus. The characteristics of positional nystagmus upon initial examination were analysed, and the initial mean pure-tone audiometry (PTA) threshold was compared with that at three months after treatment. Forty-four SSNHL patients with concomitant positional vertigo were included. Positional nystagmus was classified into five subgroups; persistent geotropic direction-changing positional nystagmus (DCPN) in head-roll test (HRT) and negative Dix-Hallpike test (DHT), persistent apogeotropic DCPN in HRT and negative DHT, positive DHT and negative HRT, persistent geotropic DCPN in HRT and positive DHT, and persistent apogeotropic DCPN in HRT and positive DHT. PTA threshold improvement was significantly greater in SSNHL patients with negative DHT than with positive DHT (p = 0.027). When geotropic DCPN was elicited by HRT, the nystagmus was persistent, which suggests that alteration of specific gravity of the endolymph, rather than the lateral canal canalolithiasis, may be a cause of this characteristic positional nystagmus. Positive DTH may be a prognostic factor for worse hearing recovery among patients with SSNHL and positional vertigo.

  17. Expression of toll-like receptor genes in leukocytes of patients with sudden sensorineural hearing loss.

    Science.gov (United States)

    Yang, Chao-Hui; Hwang, Chung-Feng; Yang, Ming-Yu; Lin, Pai-Mei; Chuang, Jiin-Haur

    2015-12-01

    Sudden sensorineural hearing loss (SNNHL) is a disease entity that could be caused by multiple etiologies in which the innate immunity status of the patients might be involved. The aim of this study is to investigate the expression of Toll-like receptor (TLR) genes in peripheral blood leukocytes of SNNHL patients. Basic research. We examined the expression of six TLR genes in the peripheral blood leukocytes of SNNHL patients and normal controls using real-time quantitative reverse transcriptase-polymerase chain reaction. We found significantly higher expression of TLR2, TLR3, TLR4, TLR7, TLR8, and TLR9 genes in SNNHL patients as compared with normal controls (P hearing loss compared with those with less severe hearing loss (P hearing thresholds of the affected ear (P < 0.05). Our study implies a role for TLRs in SNNHL. The expression of TLR2 in particular correlates with the severity of the disease. N/A. © 2015 The American Laryngological, Rhinological and Otological Society, Inc.

  18. Sudden sensorineural hearing loss: Is there a connection with inner ear electrolytic disorders? A literature review.

    Science.gov (United States)

    Ciorba, Andrea; Corazzi, Virginia; Bianchini, Chiara; Aimoni, Claudia; Skarzynski, Henryk; Skarzynski, Piotr Henryk; Hatzopoulos, Stavros

    2016-12-01

    Electrolytic disorders of the inner ear represent a model that could be implicated in partially explaining the pathogenesis of sudden sensorineural hearing loss (SSNHL). Different types of electrolytes and different inner-ear loci are involved in cochlear homeostasis physiologically, to ensure the maintenance of an ion-balanced cochlear environment allowing a normal hair cell function. It has been hypothesized that a sudden loss of endocochlear potential, due to a rapid disruption of the inner ear fluid osmolality, could be responsible for a deterioration of the hearing function caused by damaged hair cells. The aim of this paper was to review the current literature and identify sources which might validate/fortify the hypothesis that inner ear electrolytic disorders have a role in the etiopathogenesis of SSNHL. The data in the literature underline the importance of ionic homeostasis in the inner ear, but they do not support a direct link between SSNHL and electrolyte disorders/imbalances. There is marginal evidence from otoacoustic emissions research that an indirect link might be present. © The Author(s) 2016.

  19. Congenital pulmonary lymphangiectasia

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    Campisi Corradino

    2006-10-01

    Full Text Available Abstract Congenital pulmonary lymphangiectasia (PL is a rare developmental disorder involving the lung, and characterized by pulmonary subpleural, interlobar, perivascular and peribronchial lymphatic dilatation. The prevalence is unknown. PL presents at birth with severe respiratory distress, tachypnea and cyanosis, with a very high mortality rate at or within a few hours of birth. Most reported cases are sporadic and the etiology is not completely understood. It has been suggested that PL lymphatic channels of the fetal lung do not undergo the normal regression process at 20 weeks of gestation. Secondary PL may be caused by a cardiac lesion. The diagnostic approach includes complete family and obstetric history, conventional radiologic studies, ultrasound and magnetic resonance studies, lymphoscintigraphy, lung functionality tests, lung biopsy, bronchoscopy, and pleural effusion examination. During the prenatal period, all causes leading to hydrops fetalis should be considered in the diagnosis of PL. Fetal ultrasound evaluation plays a key role in the antenatal diagnosis of PL. At birth, mechanical ventilation and pleural drainage are nearly always necessary to obtain a favorable outcome of respiratory distress. Home supplemental oxygen therapy and symptomatic treatment of recurrent cough and wheeze are often necessary during childhood, sometimes associated with prolonged pleural drainage. Recent advances in intensive neonatal care have changed the previously nearly fatal outcome of PL at birth. Patients affected by PL who survive infancy, present medical problems which are characteristic of chronic lung disease.

  20. High Prevalence of Associated Birth Defects in Congenital Hypothyroidism

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    Suresh V

    2010-05-01

    Full Text Available Aim. To identify dysmorphic features and cardiac, skeletal, and urogenital anomalies in patients with congenital hypothyroidism. Patients and Methods. Seventeen children with congenital primary hypothyroidism were recruited. Cause for congenital hypothyroidism was established using ultrasound of thyroid and radionuclide thyroid scintigraphy. Malformations were identified by clinical examination, echocardiography, X-ray of lumbar spine, and ultrasonography of abdomen. Results. Ten (59% patients (6 males and 4 females had congenital malformations. Two had more than one congenital malformation (both spina bifida and ostium secundum atrial septal defect. Five (29% had cardiac malformations, of whom three had only osteum secundum atrial septal defect (ASD, one had only patent ductus arteriosus (PDA, and one patient had both ASD and PDA. Seven patients (41% had neural tube defects in the form of spina bifida occulta. Conclusion. Our study indicates the need for routine echocardiography in all patients with congenital hypothyroidism.

  1. High Prevalence of Associated Birth Defects in Congenital Hypothyroidism

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    Alok Sachan

    2010-01-01

    Full Text Available Aim. To identify dysmorphic features and cardiac, skeletal, and urogenital anomalies in patients with congenital hypothyroidism. Patients and Methods. Seventeen children with congenital primary hypothyroidism were recruited. Cause for congenital hypothyroidism was established using ultrasound of thyroid and T99mc radionuclide thyroid scintigraphy. Malformations were identified by clinical examination, echocardiography, X-ray of lumbar spine, and ultrasonography of abdomen. Results. Ten (59% patients (6 males and 4 females had congenital malformations. Two had more than one congenital malformation (both spina bifida and ostium secundum atrial septal defect. Five (29% had cardiac malformations, of whom three had only osteum secundum atrial septal defect (ASD, one had only patent ductus arteriosus (PDA, and one patient had both ASD and PDA. Seven patients (41% had neural tube defects in the form of spina bifida occulta. Conclusion. Our study indicates the need for routine echocardiography in all patients with congenital hypothyroidism.

  2. Nitrofurantoin and congenital abnormalities

    DEFF Research Database (Denmark)

    Czeizel, A.E.; Rockenbauer, M.; Sørensen, Henrik Toft

    2001-01-01

    Objective: To study human teratogenic potential of oral nitrofurantoin treatment during pregnancy. Materials and Methods: Pair analysis of cases with congenital abnormalities and matched population controls in the population-based dataset of the Hungarian Case-Control Surveillance of Congenital...

  3. Congenital heat disease

    International Nuclear Information System (INIS)

    Higgins, C.B.; Silverman, N.H.; Kersting-Somerhoff, B.A.

    1990-01-01

    The book covers the tomographic anatomy of the normal and congenitally malformed heart and tomographic imaging of the normal heat. It then compares echocardiographic evaluation and the use of MR imaging in the diagnosis and evaluation of individual congenital cardiac malformations

  4. A short in-frame deletion in NTRK1 tyrosine kinase domain caused by a novel splice site mutation in a patient with congenital insensitivity to pain with anhidrosis

    Directory of Open Access Journals (Sweden)

    Arístegui Javier

    2011-06-01

    Full Text Available Abstract Background Congenital insensitivity to pain with anhidrosis (CIPA is a rare autosomal recessive genetic disease characterized by the lack of reaction to noxious stimuli and anhidrosis. It is caused by mutations in the NTRK1 gene, which encodes the high affinity tyrosine kinase receptor I for Neurotrophic Growth Factor (NGF. Case Presentation We present the case of a female patient diagnosed with CIPA at the age of 8 months. The patient is currently 6 years old and her psychomotor development conforms to her age (RMN, SPECT and psychological study are in the range of normality. PCR amplification of DNA, followed by direct sequencing, was used to investigate the presence of NTRK1 gene mutations. Reverse transcriptase (RT-PCR amplification of RNA, followed by cloning and sequencing of isolated RT-PCR products was used to characterize the effect of the mutations on NTRK1 mRNA splicing. The clinical diagnosis of CIPA was confirmed by the detection of two splice-site mutations in NTRK1, revealing that the patient was a compound heterozygote at this gene. One of these alterations, c.574+1G>A, is located at the splice donor site of intron 5. We also found a second mutation, c.2206-2 A>G, not previously reported in the literature, which is located at the splice acceptor site of intron 16. Each parent was confirmed to be a carrier for one of the mutations by DNA sequencing analysis. It has been proposed that the c.574+1G>A mutation would cause exon 5 skipping during NTRK1 mRNA splicing. We could confirm this prediction and, more importantly, we provide evidence that the novel c.2206-2A>G mutation also disrupts normal NTRK1 splicing, leading to the use of an alternative splice acceptor site within exon 17. As a consequence, this mutation would result in the production of a mutant NTRK1 protein with a seven aminoacid in-frame deletion in its tyrosine kinase domain. Conclusions We present the first description of a CIPA-associated NTRK1 mutation

  5. impairs gap junction function causing congenital cataract

    Indian Academy of Sciences (India)

    LIJUAN CHEN

    2017-12-20

    insoluble fractions. Cell lysates were loaded on a 10% SDS acrylamide gel and analysed by western blotting. The intensities of bands were analysed using den- sitometry by NIH Image J software. Scrape loading dye transfer assay.

  6. The significance of routine laboratory parameters in patients with sudden sensorineural hearing loss.

    Science.gov (United States)

    Yasan, Hasan; Tüz, Mustafa; Yariktaş, Murat; Aynali, Giray; Tomruk, Onder; Akkuş, Omer

    2013-12-01

    There are several factors (viral infections, metabolic and ototoxic disorders etc.) accused for the development of sudden sensorineural hearing loss. Some prognostic factors (late onset of treatment etc.) had been evaluated in the literature. There is no sufficient data on the effect of routine laboratory parameters on the development and/or prognosis of sudden sensorineural hearing loss. The aim of this study is to investigate the effects of routine blood chemistry and hematological parameters on the development and prognosis of disease in patients with idiopathic sudden sensorineural hearing loss. One hundred and forty-seven patients with the diagnosis of idiopathic sudden sensorineural hearing loss followed up during the periods of 2000-2010 years were included in this study. One hundred and three septoplasty patients with no otologic complaints were enrolled as control group. Following the clinical and demographic evaluations, patients with idiopathic sudden sensorineural hearing loss and control groups, and patients treated successfully and patients with poor outcome were compared with each other. Data were analyzed by T test. All hematological and biochemical parameters were compared. Hemoglobin, hematocrit, white blood cell count, total and direct bilirubin, fasting blood glucose level and aspartate aminotransferase were significantly different between idiopathic sudden sensorineural hearing loss and control groups. There was no significantly different parameter between patients treated successfully and patients with poor outcome. Hemoglobin, hematocrit, white blood cell count, total and direct bilirubin, fasting blood glucose level and AST all can be risk factors for SHL, or they can be the result of undetermined pathology, because these parameters have no effect on the prognosis. Other routine parameters seem to have no effect on the development and/or prognosis of idiopathic sudden sensorineural hearing loss.

  7. Considerations on the etiology of congenital Brown syndrome.

    Science.gov (United States)

    Coussens, Tracey; Ellis, Forrest J

    2015-07-01

    Brown syndrome is an ocular motility disorder characterized by limited volitional and passive elevation of the eye in adduction. Although originally thought due to abnormalities in the trochlea or tendon sheath (limiting the free movement of the tendon through the trochlea), recent evidence suggests that some cases of congenital Brown syndrome may be related to neurodevelopmental abnormalities of the extraocular muscles (congenital cranial dysinnervation disorders, CCDD). CCDD is a term encompassing congenital abnormalities of eye movements caused by congenital innervational abnormalities. The abnormal development of cranial nerve nuclei or abnormalities in cranial nerve axonal transport affects the development of the extraocular muscle(s). Currently, congenital fibrosis of the extraocular muscles, Duane syndrome, Moebius syndrome, Horizontal gaze palsy and progressive scoliosis, and synergistic divergence are included as CCDDs. In addition, congenial ptosis, Jaw Wink ptosis, and congenital superior oblique palsy are also included. Recently, it has been suggested that some cases of congenital Brown syndrome and congenital superior oblique paresis are related, and these entities may be part of the CCDDs spectrum. Important findings regarding the cause of congenital Brown syndrome will be reviewed.

  8. A novel frameshift mutation of SMPX causes a rare form of X-linked nonsyndromic hearing loss in a Chinese family.

    Directory of Open Access Journals (Sweden)

    Zhijie Niu

    Full Text Available X-linked hearing impairment is the rarest form of genetic hearing loss (HL and represents only a minor fraction of all cases. The aim of this study was to investigate the cause of X-linked inherited sensorineural HL in a four-generation Chinese family. A novel duplication variant (c.217dupA, p.Ile73Asnfs*5 in SMPX was identified by whole-exome sequencing. The frameshift mutation predicted to result in the premature truncation of the SMPX protein was co-segregated with the HL phenotype and was absent in 295 normal controls. Subpopulation screening of the coding exons and flanking introns of SMPX was further performed for 338 Chinese patients with nonsydromic HL by Sanger sequencing, and another two potential causative substitutions (c.238C>A and c.55A>G in SMPX were identified in additional sporadic cases of congenital deafness. Collectively, this study is the first to report the role of SMPX in Chinese population and identify a novel frameshift mutation in SMPX that causes not only nonsyndromic late-onset progressive HL, but also congenital hearing impairment. Our findings extend the mutation and phenotypic spectrum of the SMPX gene.

  9. Familial isolated congenital asplenia: a rare, frequently hereditary dominant condition, often detected too late as a cause of overwhelming pneumococcal sepsis. Report of a new case and review of 31 others.

    Science.gov (United States)

    Gilbert, Brigitte; Menetrey, Céline; Belin, Valérie; Brosset, Philippe; de Lumley, Lionel; Fisher, Alain

    2002-07-01

    Congenital isolated asplenia may arise as a minor form of situs abnormalities or result from an unrelated specific defect of spleen development. It is a rare life-threatening condition and pneumococcal sepsis is often the first sign of the disease. We report on the case of a deceased 11-month-old girl and her father who developed recurrent pneumococcal meningitis. The fatal evolution in the girl was due to Streptococcus pneumoniae serotype 23 with intermediate penicillin sensitivity 4 h after amoxicillin (100 mg/kg i.v.) administration. Establishing the diagnosis of congenital isolated asplenia in the case of pneumococcal sepsis can be achieved by performing two easy and non-invasive investigations: searching for Howell-Jolly bodies on blood smears and performing ultrasound examination of the abdomen to look for the spleen. In the case of congenital isolated asplenia, use of appropriate prophylaxis could save the lives of affected children. Our review of the literature yielded 31 cases of congenital isolated asplenia. Thirteen were sporadic and 18 were familial cases involving eight families. in the case of Streptococcus pneumoniae sepsis, a systematic search for Howell-Jolly bodies on blood smears and ultrasound examination of the abdomen for the presence of asplenia should be mandatory to detect isolated congenital asplenia. If asplenia is found, potentially life-saving antibiotic prophylaxis and pneumococcal vaccination should be initiated.

  10. Congenital cytomegalovirus infection after recurrent infection: case reports and review of the literature.

    NARCIS (Netherlands)

    Gaytant, M.A.; Rours, G.I.J.G.; Steegers, E.A.P.; Galama, J.M.D.; Semmekrot, B.A.

    2003-01-01

    Cytomegalovirus (CMV) is one of the most common causes of congenital infections in developed countries with reported incidences varying between 0.15% and 2.0%. The effects of congenital CMV infection may vary from a congenital syndrome to an asymptomatic course. Infants that are asymptomatic at

  11. Congenital pelvic arteriovenous malformation: uncommon symptoms of lower limb venous hypertension.

    Science.gov (United States)

    Akimaro Kudo, F; Nishibe, T; Miyazaki, K; Flores, J; Yasuda, K

    2001-12-01

    Congenital pelvic arteriovenous malformations (AVMs) are rare and their clinical behavior is quite variable. A case of congenital pelvic AVM manifesting with unusual extrapelvic symptoms of ipsilateral leg pain is described. The causes of symptoms associated with congenital pelvic AVMs are discussed.

  12. Impact of mean platelet volume on the occurrence and severity of sudden sensorineural hearing loss.

    Science.gov (United States)

    Sagit, M; Kavugudurmaz, M; Guler, S; Somdas, M A

    2013-10-01

    We aimed to determine: (1) whether mean platelet volume was elevated in patients with sudden sensorineural hearing loss, compared with healthy controls; and (2) whether mean platelet volume level was related to hearing loss severity. The study included 31 patients with sudden sensorineural hearing loss and 31 age- and sex-matched, healthy controls. Peripheral venous blood samples were taken from subjects and mean platelet volume and levels of glucose, total cholesterol, high-density lipoprotein, low-density lipoprotein and triglyceride were measured. Mean platelet volume was significantly greater in the sudden sensorineural hearing loss group compared with the control group. However, there was no significant correlation between mean platelet volume level and hearing loss severity. Mean platelet volume, a determinant of platelet activation, is elevated in patients with sudden sensorineural hearing loss. To our knowledge, this is the first report investigating mean platelet volume levels in such patients. Our findings indirectly support the hypothesis of vascular impairment as a pathogenetic factor in sudden sensorineural hearing loss.

  13. Feasibility and acceptability of targeted screening for congenital CMV-related hearing loss.

    Science.gov (United States)

    Williams, Eleri J; Kadambari, Seilesh; Berrington, Janet E; Luck, Suzanne; Atkinson, Claire; Walter, Simone; Embleton, Nicholas D; James, Peter; Griffiths, Paul; Davis, Adrian; Sharland, Mike; Clark, Julia E

    2014-05-01

    Congenital cytomegalovirus (cCMV) is the most common non-genetic cause of sensorineural hearing loss (SNHL) in children. Ganciclovir has been shown to prevent the continued deterioration in hearing of children with symptomatic cCMV, but some children with cCMV-related SNHL are unidentified in the neonatal treatment period. Neonatal cCMV screening provides an opportunity to identify infants with cCMV-related SNHL who might benefit from early treatment. To assess the feasibility (ability to take samples before 3 weeks of age and clinical assessment by 30 days of age) and acceptability (maternal anxiety) of targeted CMV testing of infants who are 'referred' for further audiological testing after routine newborn hearing screening programme (NHSP). Parents of infants who have 'no clear responses' on routine NHSP before 22 days of life in London and North East England were approached. Salivary and urine samples were tested by CMV PCR. At recruitment and 3 months, the short form Spielberger State-Trait Anxiety Inventory measured maternal anxiety. 411 infants were recruited. 99% (407/411) returned a sample; 98% (404/411) successfully yielded a CMV result, 6 had cCMV, all diagnosed on salivary samples taken CMV within 3 weeks. All positive screening CMV results were known by day 23, and 5/6 infants with cCMV were assessed within 31 days. Anxiety was not increased in mothers of infants screened for cCMV. Targeted salivary screening for cCMV within the NHSP is feasible, acceptable and detects infants with cCMV-related SNHL who could benefit from early treatment.

  14. Isolated bilateral congenital lacrimal gland agenesis – Report of two cases

    Directory of Open Access Journals (Sweden)

    Manar Alwohaib

    2017-10-01

    Full Text Available Congenital lacrimal gland agenesis, also called congenital alacrima, is a rare cause of dry eye and is characterized by aplasia or hypoplasia of lacrimal glands. We present two 5-year old children with congenital lacrimal gland agenesis. The two cases had the final diagnosis of isolated bilateral congenital lacrimal gland agenesis and we document the clinical aspects, treatment and present a literature review related to this rare condition. Keywords: Alacrima, Lacrimal gland, Lacrimal gland agenesis, Punctal plugs

  15. Phosphodiesterase 4D gene polymorphisms in sudden sensorineural hearing loss.

    Science.gov (United States)

    Chien, Chen-Yu; Tai, Shu-Yu; Wang, Ling-Feng; Hsi, Edward; Chang, Ning-Chia; Wang, Hsun-Mo; Wu, Ming-Tsang; Ho, Kuen-Yao

    2016-09-01

    The phosphodiesterase 4D (PDE4D) gene has been reported as a risk gene for ischemic stroke. The vascular factors are between the hypothesized etiologies of sudden sensorineural hearing loss (SSNHL), and this genetic effect might be attributed for its role in SSNHL. We hypothesized that genetic variants of the PDE4D gene are associated with susceptibility to SSNHL. We conducted a case-control study with 362 SSNHL cases and 209 controls. Three single nucleotide polymorphisms (SNPs) were selected. The genotypes were determined using TaqMan technology. Hardy-Weinberg equilibrium (HWE) was tested for each SNP, and genetic effects were evaluated according to three inheritance modes. We carried out sex-specific analysis to analyze the overall data. All three SNPs were in HWE. When subjects were stratified by sex, the genetic effect was only evident in females but not in males. The TT genotype of rs702553 exhibited an adjusted odds ratio (OR) of 3.83 (95 % confidence interval = 1.46-11.18) (p = 0.006) in female SSNHL. The TT genotype of SNP rs702553 was associated with female SSNHL under the recessive model (p = 0.004, OR 3.70). In multivariate logistic regression analysis, TT genotype of rs702553 was significantly associated with female SSNHL (p = 0.0043, OR 3.70). These results suggest that PDE4D gene polymorphisms influence the susceptibility for the development of SSNHL in the southern Taiwanese female population.

  16. Clinical Study on 136 Children with Sudden Sensorineural Hearing Loss.

    Science.gov (United States)

    Li, Feng-Jiao; Wang, Da-Yong; Wang, Hong-Yang; Wang, Li; Yang, Feng-Bo; Lan, Lan; Guan, Jing; Yin, Zi-Fang; Rosenhall, Ulf; Yu, Lan; Hellstrom, Sten; Xue, Xi-Jun; Duan, Mao-Li; Wang, Qiu-Ju

    2016-04-20

    The prevalence of sudden sensorineural hearing loss in children (CSSNHL) is consistently increasing. However, the pathology and prognosis of CSSNHL are still poorly understood. This retrospective study evaluated clinical characteristics and possible associated factors of CSSNHL. One hundred and thirty-six CSSNHL patients treated in Department of Otolaryngology-Head and Neck Surgery and Institute of Otolaryngology at Chinese PLA General Hospital between July 2008 and August 2015 were included in this study. These patients were analyzed for clinical characteristics, audiological characteristics, laboratory examinations, and prognostic factors. Among the 136 patients (151 ears), 121 patients (121 ears, 80.1%) were diagnosed with unilaterally CSSNHL, and 15 patients (30 ears, 19.9%) with bilateral CSSNHL. The complete recovery rate of CSSNHL was 9.3%, and the overall recovery rate was 37.7%. We found that initial degree of hearing loss, onset of treatment, tinnitus, the ascending type audiogram, gender, side of hearing loss, the recorded auditory brainstem response (ABR), and distortion product otoacoustic emissions (DPOAEs) had prognostic significance. Age, ear fullness, and vertigo had no significant correlation with recovery. Furthermore, the relevant blood tests showed 30.8% of the children had abnormal white blood cell (WBC) counts, 22.1% had elevated homocysteine levels, 65.8% had high alkaline phosphatase (ALP), 33.8% had high IgE antibody levels, and 86.1% had positive cytomegalovirus (CMV) IgG antibodies. CSSNHL commonly occurs unilaterally and results in severe hearing loss. Initial severe hearing loss and bilateral hearing loss are negative prognostic factors for hearing recovery, while positive prognostic factors include tinnitus, gender, the ascending type audiogram, early treatment, identifiable ABR waves, and DPOAEs. Age, vertigo, and ear fullness are not correlated with the recovery. Some serologic indicators, including the level of WBC, platelet

  17. Sudden sensorineural hearing loss in children: Etiology, management, and outcome.

    Science.gov (United States)

    Pitaro, Jacob; Bechor-Fellner, Avital; Gavriel, Haim; Marom, Tal; Eviatar, Ephraim

    2016-03-01

    Pediatric sudden sensorineural hearing loss (SSNHL) is uncommon, and the current guidelines for its management refer to adults. Our objective was to review cases of SSNHL in children and examine their etiologies, management, and outcome. We performed a retrospective chart review of all children under the age of 18 years treated for SSNHL between January 2003 and September 2014. Data recorded included age, gender, symptoms, onset of hearing loss, audiometric results, diagnostic studies, treatment, and outcome. Nineteen children were included. Mean age was 14 years (range 7-18 years). Male: female ratio was 9:10. Degree of hearing loss varied from mild to profound across the tested frequencies. Most common accompanying symptom was tinnitus. Serologic tests demonstrated recent Epstein-Barr virus infection in one patient and previous cytomegalovirus infection in six patients. Imaging studies included computed tomography scan (n=3) and/or magnetic resonance imaging (n=12). All imaging studies did not demonstrate any pathology. Treatment included systemic steroids in 19 (100%) children and intratympanic steroids in eight (42%). Hearing completely improved in three (16%) children, partially improved in nine (47%), and there was no improvement in six (32%). One child was lost to follow-up. Viral infection was a common finding in children with SSNHL and no pathological changes were demonstrated on imaging studies. In most patients (63%), hearing improvement was observed. Intratympanic steroid injection can benefit these children. Further studies are required to investigate the etiologies and establish guidelines for the management of SSNHL in children. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  18. Comparison between Bilateral and Unilateral Sudden Sensorineural Hearing Loss

    Science.gov (United States)

    Bing, Dan; Wang, Da-Yong; Lan, Lan; Zhao, Li-Dong; Yin, Zi-Fang; Yu, Lan; Chen, Guo-Hui; Guan, Jing; Wang, Qiu-Ju

    2018-01-01

    Background: Bilateral sudden sensorineural hearing loss (BSSHL) is rare and assumed to be a different clinical entity compared to unilateral SSHL (USSHL). This study examined the differences between the idiopathic BSSHL and USSHL. Methods: Forty-six sequential BSSHL patients (Se-BSSHL) and 68 simultaneous BSSHL (Si-BSSHL) were consecutively admitted between June 2008 and December 2015. Two sets of patients served as control groups: (1) USSHL patients with healthy contralateral ear and (2) USSHL patients with contralateral preexisting hearing loss (USSHLwCHL). We retrospectively analyzed differences among four cohorts using analysis of variance, Kruskal-Wallis test, Welch's t-test, and Chi-square test as appropriate before and after propensity score matching (PSM) based on age, gender, and body mass index (BMI). Results: The prevalence of idiopathic BSSHL was 8.6% (114/1329) among the total SSHL patients. In the total cohort, USSHL patients tended to be younger, female, and tended to have lower BMI, renal parameters, and total cholesterol in addition to higher high-density lipoprotein compared to the other three groups. Most routine blood indicators, some coagulation markers, and immunoglobulin M (H = 13.4, P = 0.004) were significantly different among the study groups. After PSM, the major significant differences were found in audiometric characteristics. Si-BSSHL and Se-BSSHL patients demonstrated similar hearing thresholds as USSHL but were significantly better than the USSHLwCHL patients across most frequencies before and after treatment (H = 30.0, P hearing and H = 12.0, P = 0.007 for final hearing). Moreover, the BSSHL patients showed different hearing loss distribution patterns (more descending type, χ2 = 33.8, P = 0.001) with less hearing gain (H = 17.5, P hearing outcome rather than being classified as a completely different disease entity compared to USSHL. PMID:29363646

  19. Clinical Study on 136 Children with Sudden Sensorineural Hearing Loss

    Science.gov (United States)

    Li, Feng-Jiao; Wang, Da-Yong; Wang, Hong-Yang; Wang, Li; Yang, Feng-Bo; Lan, Lan; Guan, Jing; Yin, Zi-Fang; Rosenhall, Ulf; Yu, Lan; Hellstrom, Sten; Xue, Xi-Jun; Duan, Mao-Li; Wang, Qiu-Ju

    2016-01-01

    Background: The prevalence of sudden sensorineural hearing loss in children (CSSNHL) is consistently increasing. However, the pathology and prognosis of CSSNHL are still poorly understood. This retrospective study evaluated clinical characteristics and possible associated factors of CSSNHL. Methods: One hundred and thirty-six CSSNHL patients treated in Department of Otolaryngology-Head and Neck Surgery and Institute of Otolaryngology at Chinese PLA General Hospital between July 2008 and August 2015 were included in this study. These patients were analyzed for clinical characteristics, audiological characteristics, laboratory examinations, and prognostic factors. Results: Among the 136 patients (151 ears), 121 patients (121 ears, 80.1%) were diagnosed with unilaterally CSSNHL, and 15 patients (30 ears, 19.9%) with bilateral CSSNHL. The complete recovery rate of CSSNHL was 9.3%, and the overall recovery rate was 37.7%. We found that initial degree of hearing loss, onset of treatment, tinnitus, the ascending type audiogram, gender, side of hearing loss, the recorded auditory brainstem response (ABR), and distortion product otoacoustic emissions (DPOAEs) had prognostic significance. Age, ear fullness, and vertigo had no significant correlation with recovery. Furthermore, the relevant blood tests showed 30.8% of the children had abnormal white blood cell (WBC) counts, 22.1% had elevated homocysteine levels, 65.8% had high alkaline phosphatase (ALP), 33.8% had high IgE antibody levels, and 86.1% had positive cytomegalovirus (CMV) IgG antibodies. Conclusions: CSSNHL commonly occurs unilaterally and results in severe hearing loss. Initial severe hearing loss and bilateral hearing loss are negative prognostic factors for hearing recovery, while positive prognostic factors include tinnitus, gender, the ascending type audiogram, early treatment, identifiable ABR waves, and DPOAEs. Age, vertigo, and ear fullness are not correlated with the recovery. Some serologic indicators

  20. Endothelial dysfunction in patients with sudden sensorineural hearing loss

    Directory of Open Access Journals (Sweden)

    Nezamoddin Berjis

    2016-01-01

    Full Text Available Background: Endothelial dysfunction probably has a role in the etiology of sudden sensorineural hearing loss (SSNHL. The aim of this study was determining of the relationship between endothelial dysfunction and SSNHL. Materials and Methods: In a case-control study, 30 patients with SSNHL and 30 otherwise healthy age and sex-matched controls were studied. Demographic data gathered included age, gender, family history of SSNHL, and history of smoking, cardiovascular disease, hypertension, diabetes, and dyslipidemia. Laboratory data included measurement of hemoglobin, fasting blood sugar (FBS and lipid profile. Endothelial function was assessed by measuring flow-mediated dilation (FMD. Results: The two groups were the same in age (47.9 ± 9.3 and 48.1 ± 9.6 years, P = 0.946 with female/male ratio of 1:1 in both groups. Diabetes and dyslipidemia were more frequent in patients than controls (20% vs. 0%, P = 0.024. Brachial artery diameter was greater in patients than controls before (4.24 ± 0.39 vs. 3.84 ± 0.23 mm, P < 0.001 and after ischemia (4.51 ± 0.43 vs. 4.28 ± 0.27 mm, P = 0.020, but FMD was lower in patients than controls (6.21 ± 3.0 vs. 11.52 ± 2.30%, P < 0.001. Binary logistic regression analysis showed that FMD was associated with SSNHL independent from FBS and lipid profile (odds ratio [95% confidence interval] =0.439 [0.260-0.740], P = 0.002. Conclusion: Endothelial dysfunction, among other cardiovascular risk factors, is associated with SSNHL. This association is independent from other cardiovascular risk factors including diabetes and dyslipidemia.

  1. CONGENITAL EYELID EVERSION - A CASE REPORT WITH REVIEW OF LITERATURE

    Directory of Open Access Journals (Sweden)

    Chinmayee

    2015-03-01

    Full Text Available INTRODUCTION: Congenital eversion of the eyelids, a condition usually seen shortly after birth is a rare condition affecting one or both eyelids of the eye. Many etiologies have been described but no specific cause has been identified. We report a case of congenital eve rsion of eyelids which was managed conservatively with spontaneous correction seen in 6 days. KEYMESSAGE: Congenital eversion of the eyelids is a rare easily identifiable and potentially treatable condition. Decision of surgical intervention has to be take n with care and must be individualized for each case. Congenital eversion must be differentiated from congenital ectropion due to causes like ichthyosis as the treatment widely differs. All ophthalmologists need to be aware of this condition as it can be e asily managed on an outpatient basis

  2. [Penile congenital abnormalities].

    Science.gov (United States)

    Boillot, B; Teklali, Y; Moog, R; Droupy, S

    2013-07-01

    Congenital abnormalities of the penis are usually diagnosed at birth and pose aesthetic and functional problems sometimes requiring surgical management. A literature review was conducted on Medline considering the articles listed until January 2012. Hypospadias is the most common malformation (1 in 250 boys. Familial forms: 7%). The causes remain hypothetical but the doubling of the incidence in 30 years could be linked to fetal exposure to endocrine disruptors "estrogen-like" used in the food industry in particular. Surgical treatment is usually intended to improve the aesthetic appearance but sometimes, in case of significant curvature or posterior meatus, necessary for normal sexual life and fertility. Other malformations (epispades, buried penis, transpositions, twists and preputial abnormalities) as well as management for functional or aesthetic consequences of these malformations in adulthood require complex surgical care in a specialized environment. The improvement of surgical techniques and pediatric anesthesia allows an early and effective specialized surgical approach of penile malformations. Management of sequelae in adulthood must be discussed and requires experience of surgical techniques on pediatric and adult penis. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

  3. Congenital parotid fistula

    Directory of Open Access Journals (Sweden)

    Shiggaon Natasha

    2014-01-01

    Full Text Available Parotid fistula is a cause of great distress and embarrassment to the patient. Parotid fistula is most commonly a post-traumatic situation. Congenital parotid salivary fistulas are unusual entities that can arise from accessory parotid glands or even more infrequently, from normal parotid glands through an aberrant Stensen′s duct. The treatment of fistulous tract is usually surgical and can be successfully excised after making a skin incision along the skin tension line around the fistula opening. This report describes a case of right accessory parotid gland fistula of a 4-year-old boy with discharge of pus from right cheek. Computed tomography (CT fistulography and CT sialography demonstrated fistulous tract arising from accessory parotid gland. Both CT fistulography and CT sialography are very helpful in the diagnosis and surgical planning. In this case, superficial parotidectomy is the treatment of choice. A detailed history, clinical and functional examination, proper salivary gland investigations facilitates in correct diagnosis followed by immediate surgical intervention helps us to restore physical, psychological health of the child patient.

  4. Congenital dyserythropoietic anemias.

    Science.gov (United States)

    Iolascon, Achille; Russo, Roberta; Delaunay, Jean

    2011-05-01

    Congenital dyserythropoietic anemias (CDAs) are rare hereditary disorders characterized by ineffective erythropoiesis and by distinct morphological abnormalities of erythroblasts in the bone marrow. Characteristic morphological aberrations were the cornerstone of diagnosis, but following the identification of several causative genes, the molecular approach could represent a rapid tool for the identification of these conditions. This review presents advances in diagnosis and classification of CDAs. The classification of CDAs has long been based on morphological features. Now, the discovery of some of the responsible genes allows reconsideration of part of the classification. The first CDA partly accounted for genetically has been CDA 1, through the discovery in 2002 of the gene responsible, CDAN1, encoding codanin-1. Recently, the dramatic identification of the genes responsible for CDA II, SEC23B, and for a hitherto unnamed CDA, KLF1, took place. SEC23B encodes SEC23B which is a component of the coated vesicles transiting from the endoplasmic reticulum to the cis compartment of the Golgi apparatus. A unique mutation in KLF1, which encodes the erythroid transcription factor KLF1, causes major ultrastructural abnormalities, the persistence of embryonic and fetal hemoglobins, and the absence of some red cell membrane proteins. Studies of genotype-phenotype relationship, as has already been done for CDA II, will allow a more accurate prognosis. Identification of the responsible genes has opened new vistas for research on CDAs.

  5. Altered phenotype of β-cells and other pancreatic cell lineages in patients with diffuse congenital hyperinsulinism in infancy caused by mutations in the ATP-sensitive K-channel

    NARCIS (Netherlands)

    Salisbury, Rachel J.; Han, Bing; Jennings, Rachel E.; Berry, Andrew A.; Stevens, Adam; Mohamed, Zainab; Sugden, Sarah A.; De Krijger, Ronald|info:eu-repo/dai/nl/123933595; Cross, Sarah E.; Johnson, Paul P V; Newbould, Melanie; Cosgrove, Karen E.; Hanley, Karen Piper; Banerjee, Indraneel; Dunne, Mark J.; Hanley, Neil A.

    2015-01-01

    Diffuse congenital hyperinsulinism in infancy (CHI-D) arises from mutations inactivating the KATP channel; however, the phenotype is difficult to explain from electrophysiology alone. Here we studied wider abnormalities in the b-cell and other pancreatic lineages. Islets were disorganized in CHI-D

  6. Bilateral sudden sensorineural hearing loss as a presenting feature of systemic lupus erythematosus

    Science.gov (United States)

    Chawki, Sylvain; Aouizerate, Jessie; Trad, Selim; Prinseau, Jacques; Hanslik, Thomas

    2016-01-01

    Abstract Introduction: Sudden sensorineural hearing loss is an unusual presenting clinical feature of systemic lupus erythematosus. Case report: We report the case of a young woman who was admitted to hospital for sudden sensorineural hearing loss and hemophagocytic syndrome which was attributed to systemic lupus erythematosus on the basis of specific renal involvement, thrombocytopenia, and consistent autoantibodies. Favorable outcome was obtained on high-dose corticosteroids, and the hearing fully recovered. Discussion: Sudden sensorineural hearing loss in systemic lupus erythematosus is seemingly more frequently associated with severe systemic involvement and antiphospholipid antibodies may be present. Although management remains empirical, the high risk of permanent hearing impairment seems to justify emergency treatment with high-dose corticosteroids. When the clinical and laboratory criteria of antiphospholipid syndrome are met, antiplatelets agents or anticoagulation therapy shall be considered. PMID:27603334

  7. Prognostic factors for idiopathic sudden sensorineural hearing loss treated with hyperbaric oxygen therapy and intravenous steroids.

    Science.gov (United States)

    Hosokawa, S; Sugiyama, K; Takahashi, G; Takebayashi, S; Mineta, H

    2017-01-01

    This study evaluated the prognosis of idiopathic sudden sensorineural hearing loss when treated with hyperbaric oxygen therapy and intravenous steroids. The clinical data for 334 patients with idiopathic sudden sensorineural hearing loss treated by hyperbaric oxygen therapy and intravenous steroids at our hospital were retrospectively reviewed. These data included the initial averaged five-frequency hearing level, patient age, interval between onset of symptoms and treatment, vertigo as a complication, and co-existence of diabetes mellitus. The overall improvement rate was 69.2 per cent, including better improvement (25.5 per cent), good improvement (21.0 per cent) and fair improvement (22.7 per cent). Hyperbaric oxygen therapy appears to confer a significant additional therapeutic benefit when used in combination with steroid therapy for idiopathic sudden sensorineural hearing loss. If performed early, hyperbaric oxygen therapy may bring about hearing improvement in many patients who are unresponsive to initial therapy.

  8. Constraint-induced sound therapy for sudden sensorineural hearing loss--behavioral and neurophysiological outcomes.

    Science.gov (United States)

    Okamoto, Hidehiko; Fukushima, Munehisa; Teismann, Henning; Lagemann, Lothar; Kitahara, Tadashi; Inohara, Hidenori; Kakigi, Ryusuke; Pantev, Christo

    2014-01-29

    Sudden sensorineural hearing loss is characterized by acute, idiopathic hearing deterioration. We report here the development and evaluation of "constraint-induced sound therapy", which is based on a well-established neuro-rehabilitation approach, and which is characterized by the plugging of the intact ear ("constraint") and the simultaneous, extensive stimulation of the affected ear with music. The sudden sensorineural hearing loss patients who received the constraint-induced sound therapy in addition to the standard corticosteroid therapy showed significantly better recovery of hearing function compared to those who had only received corticosteroid treatments. Additionally, the brain activity obtained in a subgroup of patients suggested that the constraint-induced sound therapy could have prevented maladaptive auditory cortex reorganization. Constraint-induced sound therapy thus appears to be an effective, practical, and safe treatment option for sudden sensorineural hearing loss.

  9. Constraint-induced sound therapy for sudden sensorineural hearing loss – behavioral and neurophysiological outcomes

    Science.gov (United States)

    Okamoto, Hidehiko; Fukushima, Munehisa; Teismann, Henning; Lagemann, Lothar; Kitahara, Tadashi; Inohara, Hidenori; Kakigi, Ryusuke; Pantev, Christo

    2014-01-01

    Sudden sensorineural hearing loss is characterized by acute, idiopathic hearing deterioration. We report here the development and evaluation of “constraint-induced sound therapy”, which is based on a well-established neuro-rehabilitation approach, and which is characterized by the plugging of the intact ear (“constraint”) and the simultaneous, extensive stimulation of the affected ear with music. The sudden sensorineural hearing loss patients who received the constraint-induced sound therapy in addition to the standard corticosteroid therapy showed significantly better recovery of hearing function compared to those who had only received corticosteroid treatments. Additionally, the brain activity obtained in a subgroup of patients suggested that the constraint-induced sound therapy could have prevented maladaptive auditory cortex reorganization. Constraint-induced sound therapy thus appears to be an effective, practical, and safe treatment option for sudden sensorineural hearing loss. PMID:24473277

  10. A novel WFS1 mutation in a family with dominant low frequency sensorineural hearing loss with normal VEMP and EcochG findings

    OpenAIRE

    Bramhall, Naomi F; Kallman, Jeremy C; Verrall, Aimee M; Street, Valerie A

    2008-01-01

    Abstract Background Low frequency sensorineural hearing loss (LFSNHL) is an uncommon clinical finding. Mutations within three different identified genes (DIAPH1, MYO7A, and WFS1) are known to cause LFSNHL. The majority of hereditary LFSNHL is associated with heterozygous mutations in the WFS1 gene (wolframin protein). The goal of this study was to use genetic analysis to determine if a small American family's hereditary LFSNHL is linked to a mutation in the WFS1 gene and to use VEMP and Ecoch...

  11. Congenital Ocular Motor Apraxia

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2007-06-01

    Full Text Available The clinical and neuroradiological findings, and long-term intellectual prognosis in 10 patients (4 boys and 6 girls with congenital ocular motor apraxia (COMA are reviewed by researchers at Tottori University, Yonago, Japan.

  12. Congenital pulmonary vein stenosis.

    Science.gov (United States)

    Manzar, Shabih

    2007-06-01

    A case of a newborn infant is described who presented with severe cyanosis at birth with rapid deterioration. The infant died at six hours of life. The diagnosis was determined at autopsy as congenital pulmonary vein stenosis.

  13. Congenital anterior urethral diverticulum

    International Nuclear Information System (INIS)

    Jung, Hyun Sub; Chung, Young Sun; Suh, Chee Jang; Won, Jong Jin

    1985-01-01

    Two cases of congenital anterior urethral diverticular which have occurred in a 4 year old and one month old boy are presented. Etiology, diagnostic procedures, and its clinical results are briefly reviewed

  14. Congenital orbital teratoma

    Directory of Open Access Journals (Sweden)

    Shereen Aiyub

    2013-01-01

    Full Text Available We present a case of mature congenital orbital teratoma managed with lid-sparing exenteration and dermis fat graft. This is a case report on the management of congenital orbital teratoma. A full-term baby was born in Fiji with prolapsed right globe which was surrounded by a nonpulsatile, cystic mass. Clinical and imaging features were consistent with congenital orbital teratoma. Due to limited surgical expertise, the patient was transferred to Adelaide, Australia for further management. The patient underwent a lid-sparing exenteration with frozen section control of the apical margin. A dermis fat graft from the groin was placed beneath the lid skin to provide volume. Histopathology revealed mature tissues from each of the three germ cell layers which confirmed the diagnosis of mature teratoma. We describe the successful use of demis fat graft in socket reconstruction following lid-sparing exenteration for congenital orbital teratoma.

  15. Giant congenital nevus

    Science.gov (United States)

    ... nevus; Giant hairy nevus; Giant pigmented nevus; Bathing trunk nevus; Congenital melanocytic nevus - large ... the spine) Involvement of the membranes of the brain and spinal cord when the nevus affects a ...

  16. Identification of congenital deafblindness

    DEFF Research Database (Denmark)

    Dammeyer, Jesper Herup

    2012-01-01

    For many reasons an accurate and straightforward identification of congenital deafblindness can be difficult. This article reports on the assessment procedures and experience in Denmark where medical examinations were combined with functional assessments performed through direct observation. The ...

  17. The "silent" global burden of congenital cytomegalovirus.

    Science.gov (United States)

    Manicklal, Sheetal; Emery, Vincent C; Lazzarotto, Tiziana; Boppana, Suresh B; Gupta, Ravindra K

    2013-01-01

    Human cytomegalovirus (CMV) is a leading cause of congenital infections worldwide. In the developed world, following the virtual elimination of circulating rubella, it is the commonest nongenetic cause of childhood hearing loss and an important cause of neurodevelopmental delay. The seroprevalence of CMV in adults and the incidence of congenital CMV infection are highest in developing countries (1 to 5% of births) and are most likely driven by nonprimary maternal infections. However, reliable estimates of prevalence and outcome from developing countries are not available. This is largely due to the dogma that maternal preexisting seroimmunity virtually eliminates the risk for sequelae. However, recent data demonstrating similar rates of sequelae, especially hearing loss, following primary and nonprimary maternal infection have underscored the importance of congenital CMV infection in resource-poor settings. Although a significant proportion of congenital CMV infections are attributable to maternal primary infection in well-resourced settings, the absence of specific interventions for seronegative mothers and uncertainty about fetal prognosis have discouraged routine maternal antibody screening. Despite these challenges, encouraging results from prototype vaccines have been reported, and the first randomized phase III trials of prenatal interventions and prolonged postnatal antiviral therapy are under way. Successful implementation of strategies to prevent or reduce the burden of congenital CMV infection will require heightened global awareness among clinicians and the general population. In this review, we highlight the global epidemiology of congenital CMV and the implications of growing knowledge in areas of prevention, diagnosis, prognosis, and management for both low (50 to 70%)- and high (>70%)-seroprevalence settings.

  18. Drug safety in pregnancy - monitoring congenital anomalies

    NARCIS (Netherlands)

    Morgan, Margery; De Jong-Van Den Berg, Lolkje T. W.; Jordan, Sue

    Aim This paper outlines research into the causes of congenital anomalies, and introduces a pan-European study. The potential roles of nurses and midwives in this area are illustrated by a case report. Background Since the thalidomide disaster, use of drugs in pregnancy has been carefully monitored

  19. Fetal chromosome abnormalities and congenital malformations: an ...

    African Journals Online (AJOL)

    Objective: Our objective were to determine and evaluate the role of genetic counseling and amniocentesis in early detection of chromosomal abnormalities or congenital malformations among women at risk. Patients and Methods: The study was performed on 784 pregnant women. Results: The cause for seeking genetic ...

  20. Congenital chylous ascites

    International Nuclear Information System (INIS)

    Romanska-Kita, J.; Borszewska-Kornacka, M. K.; Rudzinska, I.; Wawrzoniak, T.; Dobrzanska, A.; Czech-Kowalska, J.

    2011-01-01

    Congenital chylous ascites is a rare entity, conditioned by numerous factors and with changing dynamics of the disease. Because of the lack of therapeutic and diagnostic standards, this disease constitutes to be a medical challenge. This article presents current knowledge on pathogenesis, diagnostics and management of this disease, as well as a case of a newborn with primary congenital chylous ascites in the abdominal cavity. (authors)

  1. Congenital laryngeal anomalies,

    OpenAIRE

    Rutter, Michael J.

    2014-01-01

    Introduction: It is essential for clinicians to understand issues relevant to the airway management of infants and to be cognizant of the fact that infants with congenital laryngeal anomalies are at particular risk for an unstable airway. Objectives: To familiarize clinicians with issues relevant to the airway management of infants and to present a succinct description of the diagnosis and management of an array of congenital laryngeal anomalies. Methods: Revision article, in which the ma...

  2. Congenital gluteus maximus contracture.

    Science.gov (United States)

    Ganel, A; Blankstein, A

    1989-01-01

    Muscle contractures are infrequent in Israel. This report discusses one case of a congenital contracture associated with a skin dimple treated in Israel. A 3-year-old boy presented with difficulty in running, riding a bicycle, and squatting. Flexion of the right hip in adduction was impossible. The hip could be fully flexed in abduction. Congenital contracture of the right gluteus maximus muscle was successfully treated by surgical release.

  3. Secondary superficial siderosis of the central nervous system in a patient presenting with sensorineural hearing loss

    International Nuclear Information System (INIS)

    Lemmerling, M.; De Praeter, G.; Mollet, P.; Mortele, K.; Kunnen, M.; Mastenbroek, G.

    1998-01-01

    We present a 50-year-old man who was investigated for sensorineural hearing loss. On MRI of the brain superficial siderosis of the central nervous system was seen, while MRI of the spine revealed an ependymoma of the cauda equina. This case illustrates the importance of performing T2-weighted imaging of the brain and posterior fossa when sensorineural hearing loss is present. Spine imaging is mandatory when superficial siderosis of the brain is diagnosed without identification of a bleeding source in the brain. (orig.)

  4. Background: Madelung's deformity is a congenital abnormality of the ...

    African Journals Online (AJOL)

    Background: Madelung's deformity is a congenital abnormality of the wrist caused by a disturbance of growth that retards the development of the ulnar and volar aspect of the distal radial physis, usually idiopathic, but can be associated with bone dysplas.

  5. Does acute sensorineural deafness befall to urgent conditions?

    Directory of Open Access Journals (Sweden)

    Čvorović Ljiljana

    2009-01-01

    Full Text Available Background/Aim. Idiopathic sudden sensorineural hearing loss (ISSHL is one of the most controversial issues in otology. The aim of this study was to determine whether a delay in treatment has any influence on hearing recovery in ISSHL. Method. This study was designed as a retrospective evaluation of an electronic patient data base of the University Hospital Zürich from January 1995 to August 2006. Five hundred and forty one patients with a sudden hearing loss were identified. The standard treatment was carbogen inhalation (95% O2 and 5% CO2 eight times per day in the duration of 30 minutes and prednisone orally (100 mg in one morning dose for 7 days. Factor that was analyzed included the interval between the onset of symptoms and the beginning of the treatment. The initial hearing loss was described using the pure tone average (PTA in dB hearing level at 4 frequencies (0.5, 1, 2 and 4 kHz. Hearing gain was expressed either as absolute hearing gain (dB values from initial PTA minus dB values from final PTA or as relative hearing gain (absolute hearing gain divided by initial PTA minus baseline PTA × 100. Significant recovery of hearing was defined as the final PTA ≤ 30 dB (or same as PTA of the opposite ear. Results. An absolute hearing gain between the initial audiogram and the final audiogram was 15.1 dB. The mean relative hearing gain was 47%. Three hundred one (57% patients had a significant recovery of hearing, and 228 (43% had not. If the patients received treatment in the first 24 hours after onset of symptoms, then the rate of significant recovery was 56%, and no significant difference existed between this group and the patients who received the therapy after 24 hours, but within seven days (χ2 = 0.007, DF = 1, p > 0.01. Conclusion. These results suggest that it is not critical to begin the treatment of ISSHL immediately as an emergency, but within seven days.

  6. Intelligence and Academic Achievement With Asymptomatic Congenital Cytomegalovirus Infection.

    Science.gov (United States)

    Lopez, Adriana S; Lanzieri, Tatiana M; Claussen, Angelika H; Vinson, Sherry S; Turcich, Marie R; Iovino, Isabella R; Voigt, Robert G; Caviness, A Chantal; Miller, Jerry A; Williamson, W Daniel; Hales, Craig M; Bialek, Stephanie R; Demmler-Harrison, Gail

    2017-11-01

    To examine intelligence, language, and academic achievement through 18 years of age among children with congenital cytomegalovirus infection identified through hospital-based newborn screening who were asymptomatic at birth compared with uninfected infants. We used growth curve modeling to analyze trends in IQ (full-scale, verbal, and nonverbal intelligence), receptive and expressive vocabulary, and academic achievement in math and reading. Separate models were fit for each outcome, modeling the change in overall scores with increasing age for patients with normal hearing ( n = 78) or with sensorineural hearing loss (SNHL) diagnosed by 2 years of age ( n = 11) and controls ( n = 40). Patients with SNHL had full-scale intelligence and receptive vocabulary scores that were 7.0 and 13.1 points lower, respectively, compared with controls, but no significant differences were noted in these scores among patients with normal hearing and controls. No significant differences were noted in scores for verbal and nonverbal intelligence, expressive vocabulary, and academic achievement in math and reading among patients with normal hearing or with SNHL and controls. Infants with asymptomatic congenital cytomegalovirus infection identified through newborn screening with normal hearing by age 2 years do not appear to have differences in IQ, vocabulary or academic achievement scores during childhood, or adolescence compared with uninfected children. Copyright © 2017 by the American Academy of Pediatrics.

  7. Evaluation of the Vestibular System and Etiology in Children with Unilateral Sensorineural Hearing Loss.

    Science.gov (United States)

    Birdane, Leman; İncesulu, Armağan; Özüdoğru, Erkan; Cingi, Cemal; Caklı, Hamdi; Gürbüz, Melek Kezban; Adapınar, Baki

    2016-08-01

    The aim of this study was to evaluate the vestibular system of children with unilateral sensorineural hearing loss (USNHL), investigate the etiological factors of USNHL and analyze whether a genetic predisposition exists. Thirty-three children aged less than 18 years with USNHL, who visited the ear, nose, and throat (ENT) department between January 2004 and December 2012, were included in this study. Cases with conductive hearing loss were excluded from the study. The patients were subjected to etiologic, genetic, and ophthalmologic evaluation; radiologic imaging; electronystagmography (ENG); and vestibular evoked myogenic potential (VEMP) tests. The control group, which included 25 healthy children (13 males and 12 females), had undergone audiological assessment and were subjected to ENG and VEMP tests. All of the patients had severe-to-profound hearing loss. Mumps immunoglobulin G was positive in 22 (66.7%) of 33 patients. The 35delG mutation was not found in any of the patients. All of the patients underwent temporal computed tomography (CT) and magnetic resonance imaging (MRI). Inner ear anomaly was present in 51.5% of the patients. Overall, 21 of 31 ENG patients had canal paresis in the affected ear. The VEMP response was absent on the affected side in three patients. The n23 latency average of the patient group was longer than that of the control group. Because USNHL causes irreversible problems in children, early diagnosis and auditory rehabilitation are very important. As USNHL is accompanied by inner ear anomaly, children with USNHL should undergo temporal bone CT and MRI. To evaluate the vestibular system, ENG and VEMP are non-invasive and diagnostic tests.

  8. Predictors of hearing recovery in patients with severe sudden sensorineural hearing loss.

    Science.gov (United States)

    Weiss, Daniel; Böcker, Armin Julius; Koopmann, Mario; Savvas, Eleftherios; Borowski, Matthias; Rudack, Claudia

    2017-04-04

    Sudden sensorineural hearing loss (SSHL) is a disease, which severely affects the patient's social and relational life. The underlying pathomechanisms have not been finally clarified yet and outcome is not predictable. We conducted a retrospective study in order to identify parameters that influence hearing recovery. The data base contains results of basic otoneurological tests and clinical parameters of 198 patients with idiopathic SSHL of at least 60 dB in at least four frequencies, diagnosed and treated at the University Hospital of Münster, Germany, between 1999 and 2015. Hearing recovery was measured by pure tone audiometry. Multivariate linear and logistic regression analyses indicate that the chance as well as the magnitude of hearing recovery is higher for patients with normal caloric testing than for patients with pathological caloric testing. However, for the subgroup of patients who attained a hearing recovery, the caloric testing result was not found to influence the magnitude. Instead, the magnitude was noticeably lower for patients within this subgroup who had a previous hearing loss. Furthermore, we found indications that the magnitude is higher for men than for women and that receiving a high-dose steroid therapy is associated with a higher chance and magnitude of a hearing recovery. We conclude that SSHL associated with disorders of the vestibular system or previous hearing loss represent special sub-entities of SSHL that may be caused by unique pathophysiological mechanisms and are associated with worse outcome. Furthermore, our data support the importance of elevated dosage of steroids in SSHL therapy.

  9. Pengaruh Hemodialisis Terhadap Kejadian Kurang Pendengaran Sensorineural Pada Penderita Gagal Ginjal Kronik

    Directory of Open Access Journals (Sweden)

    Loriana Ulfa

    2016-06-01

    Full Text Available Sensorineural hearing loss (SNHL can occur in patients with chronic renal failure (CRF who receive hemodialysis (HD. SNHL is caused by hemodialysis occured in any frequency. The factors affect the disease include, among others, age, hypertension, and diabetes mellitus (DM. The effect of hemodialysis onSNHL occurrence in patients with CRF was analyzed in this study. It was a cohort study on 52 patients with CRF who met the inclusion criteria. The sample consists of two groups, 26 patients with CRF who received hemodialysis and 26 patients with CRF who did not received hemodialysis. Timpanoaudiometry was performed on HD group (patient with HD before the first HD and after the third HD. Timpanoaudiometry was performed on HD group (patient without HD at the same time with the first group. The data on age, hypertension, and DM were obtained from medical records. The results were analyzed with Chi-Square test. It was found that 30.7% SNHL patients were in the HD group consisting of 26.9% mild degree patients and 3.8% moderate degree patients . Mean of hearing threshold decrease was 8.13 ± 5.30. There was no patient with SNHL in the non-HD group. Analysis with Chi-Square test showed that hemodialysis affects SNHL occurrence (p=0.004. Age (p=0.084, hypertension (p=0.215, and DM (p=0.683 do not affect SNHL occurrence. It is concluded that hemodialysis affects SNHL occurrence whileage, hypertension, and DM do not. [MKB. 2016;48(2:98–104

  10. Treatment of congenital tuberculosis.

    Science.gov (United States)

    Patel, Sonal; DeSantis, Evelyn R Hermes

    2008-11-01

    The diagnosis and treatment of congenital tuberculosis are discussed. Congenital tuberculosis is rare and fatal if left untreated. If a pregnant woman with tuberculosis is not treated, infection of the fetus can occur by hematogenous spread through the umbilical cord or by aspiration or ingestion of amniotic fluid. Signs and symptoms of congenital tuberculosis may be nonspecific, which may preclude early diagnosis and treatment. Criteria for the diagnosis of congenital tuberculosis require the infant to have a tuberculous lesion, as indicated by chest radiography or granulomas, and at least one of the following should be confirmed: (1) onset during the first week of life, (2) primary hepatic tuberculosis complex or caseating hepatic granulomas, (3) infection of the placenta or maternal genital tract, or (4) exclusion of postnatal transmission by a contact investigation. Since 2001, 21 cases of congenital tuberculosis have been reported in English-language medical journals, with the age of presentation ranging from day 1 to 90. Based on findings from published case reports, congenital tuberculosis should be considered in the differential diagnosis of newborns who have (1) nonresponsive, worsening pneumonia, especially in regions with high rates of tuberculosis, (2) nonspecific symptoms but have a mother diagnosed with tuberculosis, (3) high lymphocyte counts in the cerebrospinal fluid without an identified bacterial pathogen, or (4) fever and hepatosplenomegaly. Once diagnosed, it is essential to promptly begin treatment with isoniazid, rifampin, pyrazinamide, and streptomycin in order to decrease the mortality associated with the infection. Early diagnosis and treatment during the neonatal period are crucial in minimizing the fatality associated with congenital tuberculosis.

  11. Antiviral treatment of idiopathic sudden sensorineural hearing loss : A prospective, randomized, double-blind clinical trial

    NARCIS (Netherlands)

    Stokroos, RJ; Albers, FWJ; Tenvergert, EM

    A subclinical viral labyrinthitis has been postulated in the literature to elicit Idiopathic Sudden Sensorineural Hearing Loss. An etiological role for the herpes virus family is assumed. Corticosteroids possess a limited beneficial effect on hearing recovery in ISSHL. In this study, the therapeutic

  12. Use of vasodilators in idiopathic sudden sensorineural hearing loss : A systematic review

    NARCIS (Netherlands)

    De Sousa, Melissa Bravenboer; Cazemier, Selma; Stegeman, Inge; Thomeer, Hans

    2017-01-01

    To compare the effect of vasodilators with that of corticosteroids in patients with idiopathic sudden sensorineural hearing loss (ISSHL). A search in PubMed, Cochrane, and Embase was conducted. Two reviewers screened the data sources to identify articles that comply with predefined inclusion

  13. Risk factors for sensorineural hearing loss in NICU infants compared to normal hearing NICU controls

    NARCIS (Netherlands)

    Coenraad, S.; Goedegebure, A.; van Goudoever, J. B.; Hoeve, L. J.

    2010-01-01

    To evaluate independent etiologic factors associated with sensorineural hearing loss in infants who have been admitted to the neonatal intensive care unit compared to normal hearing controls. Between 2004 and 2009, 3366 infants were admitted to the neonatal intensive care unit of Sophia Children's

  14. Profile and Stability of Sensorineural Hearing Loss in Persistent Pulmonary Hypertension of the Newborn.

    Science.gov (United States)

    Walton, Joseph P.; Hendricks-Munoz, Karen

    1991-01-01

    This study found that 19 of 51 infants with persistent pulmonary hypertension of the newborn were diagnosed with sensorineural hearing loss, an incidence 25 times greater than that of intensive care unit infants in general. Treatment durations with mechanical ventilation were significantly longer for the hearing-impaired group compared to the…

  15. Language Development and Impairment in Children with Mild to Moderate Sensorineural Hearing Loss

    Science.gov (United States)

    Halliday, Lorna F.; Tuomainen, Outi; Rosen, Stuart

    2017-01-01

    Purpose: The goal of this study was to examine language development and factors related to language impairments in children with mild to moderate sensorineural hearing loss (MMHL). Method: Ninety children, aged 8-16 years (46 children with MMHL; 44 aged-matched controls), were administered a battery of standardized language assessments, including…

  16. Sensorineural deafness, abnormal genitalia, synostosis of metacarpals and metatarsals 4 and 5, and mental retardation

    DEFF Research Database (Denmark)

    Mendioroz, Jacobo; Fernández-Toral, Joaquín; Suárez, Etelvina

    2005-01-01

    In 1988 Pfeiffer and Kapferer reported on a patient with sensorineural deafness, psychomotor delay, hypospadias, cerebral manifestations, and bilateral synostosis of the 4th and 5th metacarpals and metatarsals. Synostosis of the 4th and 5th metacarpals and metatarsals is a very rare defect that h...

  17. Sudden sensorineural hearing loss is associated with chronic rhinosinusitis: population-based study.

    Science.gov (United States)

    Hung, S H; Lin, H C; Kao, L T; Wu, C S; Chung, S D

    2016-06-01

    This study aimed to evaluate the association of chronic rhinosinusitis with sudden sensorineural hearing loss using a population-based database. Sampled subject data were obtained from the Taiwan Longitudinal Health Insurance Database 2000. A total of 3325 patients with sudden sensorineural hearing loss were identified and 9975 controls were randomly selected. A conditional logistic regression was used to calculate the odds ratio for having been previously diagnosed with chronic rhinosinusitis, for cases and controls. The adjusted odds ratio of having prior chronic rhinosinusitis among cases compared to controls was 1.36 (95 per cent confidence interval = 1.16-1.60). The significant relationship between sudden sensorineural hearing loss and chronic rhinosinusitis was most pronounced among those patients aged 44 years or less (compared to controls) (odds ratio = 2.18; 95 per cent confidence interval = 1.63-2.92). However, the significant relationship between sudden sensorineural hearing loss and prior chronic rhinosinusitis was not sustained for patients older than 60 years compared to controls.

  18. Magnetic resonance imaging of the inner ear in patients with idiopathic sudden sensorineural hearing loss

    NARCIS (Netherlands)

    Stokroos, RJ; Albers, FWJ; Krikke, AP; Casselman, JW

    1998-01-01

    Although gadolinium-enhanced magnetic resonance imaging (Gd-MRI) has been used to indicate the presence of a subclinical labyrinthitis in patients with idiopathic sudden sensorineural hearing loss (ISSHL), its sensitivity in daily clinical practice is unknown. We describe Gd-MRI findings in 27 ISSHL

  19. The association of congenital neuroblastoma and congenital heart disease

    International Nuclear Information System (INIS)

    Bellah, R.; D'Andrea, A.; Children's Hospital, Boston, MA; Darillis, E.; Fellows, K.E.

    1989-01-01

    Several authors have reported an association between neuroblastoma and congenital heart disease; others contend that, unlike specific wellknown associations between malignancy and congenital defects (Wilm's tumor and aniridia, leukemia and Down's syndrome), no real relationship exists. We present three cases of cyanotic congenital heart disease in which subclinical neuroblastoma was found. We speculate that abnormal neural crest cell migration and development may be a common link between cardiac malformations and congenital neuroblastoma. (orig.)

  20. Congenital cranial dysinnervation disorders.

    Science.gov (United States)

    Singh, Anupam; Pandey, P K; Agrawal, Ajai; Mittal, Sanjeev Kumar; Rana, Kartik Maheshbhai; Bahuguna, Chirag

    2017-12-01

    The European Neuromuscular Centre (ENMC) derived the term Congenital Cranial Dysinnervation Disorders in 2002 at an international workshop for a group of congenital neuromuscular diseases. CCDDs are congenital, non-progressive ophthalmoplegia with restriction of globe movement in one or more fields of gaze. This group of sporadic and familial strabismus syndromes was initially referred to as the 'congenital fibrosis syndromes' because it was assumed that the primary pathologic process starts in the muscles of eye motility. Over the last few decades, evidence has accumulated to support that the primary pathologic process of these disorders is neuropathic rather than myopathic. This is believed that for normal development of extra ocular muscles and for preservation of muscle fiber anatomy, normal intra-uterine development of the innervation to these muscles is essential. Congenital dysinnervation to these EOMs can lead to abnormal muscle structure depending upon the stage and the extent of such innervational defects. Over last few years new genes responsible for CCDD have been identified, permitting a better understanding of associated phenotypes, which can further lead to better classification of these disorders. Introduction of high-resolution MRI has led to detailed study of cranial nerves courses and muscles supplied by them. Thus, due to better understanding of pathophysiology and genetics of CCDDs, various treatment modalities can be developed to ensure good ocular alignment and better quality of life for patients suffering from the same.

  1. Prevalence of congenital amusia.

    Science.gov (United States)

    Peretz, Isabelle; Vuvan, Dominique T

    2017-05-01

    Congenital amusia (commonly known as tone deafness) is a lifelong musical disorder that affects 4% of the population according to a single estimate based on a single test from 1980. Here we present the first large-based measure of prevalence with a sample of 20 000 participants, which does not rely on self-referral. On the basis of three objective tests and a questionnaire, we show that (a) the prevalence of congenital amusia is only 1.5%, with slightly more females than males, unlike other developmental disorders where males often predominate; (b) self-disclosure is a reliable index of congenital amusia, which suggests that congenital amusia is hereditary, with 46% first-degree relatives similarly affected; (c) the deficit is not attenuated by musical training and (d) it emerges in relative isolation from other cognitive disorder, except for spatial orientation problems. Hence, we suggest that congenital amusia is likely to result from genetic variations that affect musical abilities specifically.

  2. Chinese herbal medicine for idiopathic sudden sensorineural hearing loss: a systematic review of randomised clinical trials.

    Science.gov (United States)

    Su, C-X; Yan, L-J; Lewith, G; Liu, J-P

    2013-12-01

    Idiopathic sudden sensorineural hearing loss has great impact on quality of life. Many clinical trials using Chinese herbal medicine for idiopathic sudden sensorineural hearing loss have been conducted and reported beneficial results. However, there is no critical appraised evidence on efficacy and safety of Chinese herbal medicine for idiopathic sudden sensorineural hearing loss to inform clinical use. To assess the beneficial effect and safety of Chinese herbal medicine for idiopathic sudden sensorineural hearing loss. Systematic review of randomised clinical trials. Seven electronic databases and two trial registries were searched for all eligible trials from inception to January 2013. Two authors independently selected trials and extracted data. The Cochrane risk of bias tool was utilised to assess the methodological quality of the included trials. revman 5.2 software was applied for data analysis with effect estimate presented as risk ratio and mean difference with its 95% confidence interval. Forty-one randomised clinical trials involving 3560 participants were identified. Five kinds of Chinese herbal medicine were trialed. All trials compared conventional therapies of steroids, vasodilators, anticoagulants, nutritional supplements or hyperbaric oxygen with or without herbal medicine. No trial was identified that compared herbal medicine alone with placebo. No trial was identified that blinded the participants or the observers to their herbal medication. Only one trial adequately reported its method of randomisation. No trial reported the sample size calculated to show an effect. All trials had material other defects giving a high likelihood of bias. Because of the overall poor quality of all 41 trials, it was concluded that there was no level-one evidence to support the use of Chinese herbal medicine, alone or in addition to conventional therapies, to improve the hearing in adults with idiopathic sudden sensorineural hearing loss. Two trials reported adverse

  3. Imaging of Cranial Nerves III, IV, VI in Congenital Cranial Dysinnervation Disorders

    Science.gov (United States)

    Kim, Jae Hyoung

    2017-01-01

    Congenital cranial dysinnervation disorders are a group of diseases caused by abnormal development of cranial nerve nuclei or their axonal connections, resulting in aberrant innervation of the ocular and facial musculature. Its diagnosis could be facilitated by the development of high resolution thin-section magnetic resonance imaging. The purpose of this review is to describe the method to visualize cranial nerves III, IV, and VI and to present the imaging findings of congenital cranial dysinnervation disorders including congenital oculomotor nerve palsy, congenital trochlear nerve palsy, Duane retraction syndrome, Möbius syndrome, congenital fibrosis of the extraocular muscles, synergistic divergence, and synergistic convergence. PMID:28534340

  4. Metabolic Syndrome Increases the Risk of Sudden Sensorineural Hearing Loss in Taiwan: A Case-Control Study.

    Science.gov (United States)

    Chien, Chen-Yu; Tai, Shu-Yu; Wang, Ling-Feng; Hsi, Edward; Chang, Ning-Chia; Wu, Ming-Tsang; Ho, Kuen-Yao

    2015-07-01

    Sudden sensorineural hearing loss has been reported to be associated with diabetes mellitus, hypertension, and hyperlipidemia in previous studies. The aim of this study was to examine whether metabolic syndrome increases the risk of sudden sensorineural hearing loss in Taiwan. A case-control study. Tertiary university hospital. We retrospectively investigated 181 cases of sudden sensorineural hearing loss and 181 controls from the Department of Otorhinolaryngology, Kaohsiung Medical University Hospital, in southern Taiwan from 2010 to 2012, comparing their clinical variables. We analyzed the relationship between metabolic syndrome and sudden sensorineural hearing loss. Metabolic syndrome was defined according to the National Cholesterol Education Program Adult Treatment Panel III with Asian modifications. The demographic and clinical characteristics, audiometry results, and outcome were reviewed. Subjects with metabolic syndrome had a 3.54-fold increased risk (95% confidence interval [CI] = 2.00-6.43, P diabetes mellitus, hypertension, and hyperlipidemia. With increases in the number of metabolic syndrome components, the risk of sudden sensorineural hearing loss increased (P for trend Vertigo was associated with a poor outcome (P = .02; 95% CI = 1.13~5.13, adjusted odds ratio = 2.39). The hearing loss pattern may influence the outcome of sudden sensorineural hearing loss (P Vertigo and total hearing loss were indicators of a poor outcome in sudden sensorineural hearing loss. © American Academy of Otolaryngology—Head and Neck Surgery Foundation 2015.

  5. Increased risk of sudden sensorineural hearing loss in patients with depressive disorders: population-based cohort study.

    Science.gov (United States)

    Lin, C-S; Lin, Y-S; Liu, C-F; Weng, S-F; Lin, C; Lin, B-S

    2016-01-01

    To evaluate the incidence rates and risk of sudden sensorineural hearing loss among patients with depressive disorders. Data for 27 547 patients with newly diagnosed depressive disorders and 27 547 subjects without depressive disorders between 2001 and 2008 were yielded from the Taiwan National Health Insurance Research Database. Sudden sensorineural hearing loss incidence at the end of 2011 was determined. Cumulative incidence and adjusted hazard ratio were computed. Sudden sensorineural hearing loss incidence was 1.45 times higher in the depressive disorders group compared to the non-depressive disorders group (p = 0.0041), with an adjusted hazard ratio of 1.460. A significant increased risk of developing sudden sensorineural hearing loss was noted in patients with diabetes mellitus, chronic kidney disease and hyperlipidaemia (p sudden sensorineural hearing loss in patients with depressive disorders. Co-morbidities such as diabetes mellitus, chronic kidney disease and hyperlipidaemia significantly aggravated the risk. Depressive disorders might be considered a risk factor for sudden sensorineural hearing loss. It remains to be seen whether control of depressive disorders can decrease the incidence of sudden sensorineural hearing loss in patients with depressive disorders.

  6. The clinical analysis of bilateral successive sudden sensorineural hearing loss.

    Science.gov (United States)

    Wang, Yaowen; Zhang, Litao; Zhang, Jianhua; Zhang, Xuqun; Zhang, Weimin; Chen, Xing; Tang, Shixiong

    2016-11-01

    The objective of this study is to investigate the clinical characteristics of successive bilateral sudden sensorineural hearing loss (SSNHL) with an interval of more than 1 year to aid the evaluation and management of successive bilateral SSNHL (BSSNHL). 14 successive BSSNHL patients and 118 unilateral SSNHL patients with severe and profound hearing loss were reviewed retrospectively. Information about successive BSSNHL was collected included demographics, the intervals between the attacks of bilateral ears, the past medical history, inducing factors, accompanying symptoms, pure-tone tests, blood tests, b-ultrasound examinations of vertebral artery and carotid artery, and medical interventions. And the comparison of improvement rate was made between successive BSSNHL and unilateral SSNHL. SPSS 15.0 was used to analyze the data. In successive BSSNHL, there were six males and eight females; the average aged was 49.86 ± 15.45 years (20-73 years). The interval of the two attacks was 11.43 ± 12.07 years (1-50 years) on average. The onset of treatment was 18.86 ± 12.71 days. Tinnitus was seen in 100 % of the patients, followed by vertigo in 42.85 %, and ear fullness in 21.43 %. 3 of 14 patients described obvious inducing factor: tiredness. Five patients (35.71 %) had hypertension histories, three (21.43 %) had diabetes histories, two (14.29 %) had surgery histories, one (7.14 %) was with depression history, one (7.14 %) was with coronary heart disease history. 30 % (3/10) patients were with atherosclerotic plaque in carotid artery. 4 (28.57 %) patients were with high blood sugar. 8 patients (57.14 %) were with high blood lipids. Thyroid function tests were positive in 27.27 % (3/11) patients. No abnormality was found in antinuclear antibodies titer. The percentage of profound and severe hearing loss were 71.43 and 78.57 % in the recently affected ear and contralateral ear separately. The PTAs of the recently affected ear were 77.14 ± 27.12

  7. [A clinical analysis for sudden sensorineural hearing loss with acoustic neurinoma].

    Science.gov (United States)

    Gong, Qi-lin; Zhou, Ai-dong; Lin, Chang

    2013-04-01

    Retrospectively analyzed the clinical data of sudden sensorineural hearing loss with acoustic neuroma. The clinical data of 467 cases with sudden sensorineural hearing loss were collected between Jan, 2008 and Aug, 2012. Discussed the clinical data which were diagnosed as acoustic neuroma. In 467 cases of sudden sensorineural hearing loss, nine cases were diagnosed as acoustic neuromas (9 ears, 1.93%), two males and seven females, with a age range of 28 to 57 years. Among them, seven cases accompanied with tinnitus, seven cases with vertigo. The hearing results in nine cases, two cases were found to be mild, two were moderate, four were severe, and one was profound hearling loss respectively. Hearing was classified into five types according to audiogram shape (1 of up-sloping, 1 of down-sloping, 2 of mid-frequency, 1 of profound loss, 4 of flat audiogram). Eight cases had abnormal ABR, nine cases with ear ipsilateral stapedius reflex were completely not elicited, seven cases with health ear contralateral stapedius reflex were completely not elicited. Tumors were graded by Koos Grades according to size (7 of grade I, 1 of grade II, 1 of grade IV). Seven small acoustic neuroma was taken waiting strategies. Meanwhile, we use glucocorticoid and improve the microcirculation of the inner ear medication short-termly for these patients. Four patients' hearing were improved. The initial symptoms of some acoustic neuroma are sudden hearing loss, especially the small tumors in internal auditory canal. In order to prevent misdiagnosis, MRI and ABR should be performed as a routine test for sudden sensorineural hearing loss. It is necessary to give appropriate treatment to protecting hearing for the small acoustic neuroma patients whose first symptoms are diagnosed as sudden sensorineural hearing loss.

  8. Congenital optic nerve anomalies.

    Science.gov (United States)

    Martín-Begué, N; Saint-Gerons, M

    2016-12-01

    To update the current knowledge about congenital optic disc anomalies. A comprehensive literature search was performed in the major biomedical databases. Patients with these anomalies usually have poor vision in infancy. Refractive errors are common, and serous retinal detachment may develop in some of these anomalies. It is critically important to clinically differentiate between these congenital optic disc anomalies, as central nervous system malformations are common in some, whereas others may be associated with systemic anomalies. Congenital optic disc anomalies are a heterogeneous group of pathologies with characteristic fundus appearance and systemic associations. We should always try to make a correct diagnosis, in order to ask for specific tests, as well as to provide an adequate follow-up. Copyright © 2016 Sociedad Española de Oftalmología. Publicado por Elsevier España, S.L.U. All rights reserved.

  9. Congenital and neonatal pneumonia.

    Science.gov (United States)

    Nissen, Michael D

    2007-09-01

    The greatest risk of death from pneumonia in childhood is in the neonatal period. It is estimated that pneumonia contributes to between 750000-1.2 million neonatal deaths annually, accounting for 10% of global child mortality. Congenital and neonatal pneumonias are often a difficult disease to identify and treat, with clinical manifestations often being non-specific. Many of the normal lung defences are compromised in the fetus and neonate, leading to an increased susceptibility to infection. The aetiology and epidemiology of congenital and neonatal pneumonias will depend on the clinical setting and population that the baby belongs to, the stage in the perinatal period, the gestational age of the baby and the definition of pneumonia. Diagnosis, treatment and prevention strategies are therefore also dependent on these factors, and will differ depending on the clinical setting. This review summarizes the current knowledge concerning congenital and neonatal pneumonia worldwide and discusses future directions in the prevention of the disease.

  10. Mutations in FKBP14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss

    OpenAIRE

    Baumann, Matthias; Giunta, Cecilia; Krabichler, Birgit; Rüschendorf, Franz; Zoppi, Nicoletta; Colombi, Marina; Bittner, Reginald E.; Quijano-Roy, Susana; Muntoni, Francesco; Cirak, Sebahattin; Schreiber, Gudrun; Zou, Yaqun; Hu, Ying; Romero, Norma Beatriz; Carlier, Robert Yves

    2012-01-01

    We report on an autosomal-recessive variant of Ehlers-Danlos syndrome (EDS) characterized by severe muscle hypotonia at birth, progressive scoliosis, joint hypermobility, hyperelastic skin, myopathy, sensorineural hearing impairment, and normal pyridinoline excretion in urine. Clinically, the disorder shares many features with the kyphoscoliotic type of EDS (EDS VIA) and Ullrich congenital muscular dystrophy. Linkage analysis in a large Tyrolean kindred identified a homozygous frameshift muta...

  11. Radiological findings of congenital urethral valves

    International Nuclear Information System (INIS)

    Yeon, Kyung Mo; Kook, Shin Ho

    1990-01-01

    Congenital urethral valve is the common cause of hydronephrosis in newborn infants and the most common cause of bladder outlet obstruction in male children. We reviewed and analysed radiological findings and associated anomalies of 16 cases of congenital urethral valve which were examined during the period from January 1985 to December 1989. The most frequent age was under one year old (56%). The main symptoms were urinary dribbing (37.5%), weak stream (25%) and urinary frequency and incontinence (25%). Anterior urethral valve (AUV) was 5 cases (31%) and posterior urethral valve (PUV) was 11 cases(69%), in which 10 cases were Type I and one case was Type III. Bladder wall thickening was seen in all cases and its severity was partly correlated with the degree of vesicoureteral reflux (VUR). VUR was observed in 12 cases (75%), and relatively severe in older age group. The degree of VUR was milder in AUV than PUV. Hydronephrosis was more severe in PUV than in anterior one, and its degree was correlated with the severity of VUR. Associated anomalies were ectopic urethral opening (2 cases), PDA (1 case), congenital megacolon (1 case) and patent urachus (1 case) in PUV. So early diagnosis and treatment of congenital urethral valve is essential to the prevention of renal damage

  12. [Congenital spinal malformations].

    Science.gov (United States)

    Ertl-Wagner, B B; Reiser, M F

    2001-12-01

    Congenital spinal malformations form a complex and heterogeneous group of disorders whose pathogenesis is best explained embryologically. Radiologically, it is important to formulate a diagnosis when the disorder first becomes symptomatic. However, it is also crucial to detect complications of the disorder or of the respective therapeutic interventions in the further course of the disease such as hydromyelia or re-tethering after repair of a meningomyelocele. Moreover, once a congenital spinal malformation is diagnosed, associated malformations should be sought after. A possible syndromal classification such as in OEIS- or VACTERL-syndromes should also be considered.

  13. Congenital spinal malformations

    International Nuclear Information System (INIS)

    Ertl-Wagner, B.B.; Reiser, M.F.

    2001-01-01

    Congenital spinal malformations form a complex and heterogeneous group of disorders whose pathogenesis is best explained embryologically. Radiologically, it is important to formulate a diagnosis when the disorder first becomes symptomatic. However, it is also crucial to detect complications of the disorder or of the respective therapeutic interventions in the further course of the disease such as hydromyelia or re-tethering after repair of a meningomyelocele. Moreover, once a congenital spinal malformation is diagnosed, associated malformations should be sought after. A possible syndromal classification such as in OEIS- or VACTERL-syndromes should also be considered. (orig.) [de

  14. Hearing Loss in Children With Asymptomatic Congenital Cytomegalovirus Infection

    Science.gov (United States)

    Chung, Winnie; Flores, Marily; Blum, Peggy; Caviness, A. Chantal; Bialek, Stephanie R.; Grosse, Scott D.; Miller, Jerry A.; Demmler-Harrison, Gail

    2017-01-01

    OBJECTIVES: To assess the prevalence, characteristics, and risk of sensorineural hearing loss (SNHL) in children with congenital cytomegalovirus infection identified through hospital-based newborn screening who were asymptomatic at birth compared with uninfected children. METHODS: We included 92 case-patients and 51 controls assessed by using auditory brainstem response and behavioral audiometry. We used Kaplan–Meier survival analysis to estimate the prevalence of SNHL, defined as ≥25 dB hearing level at any frequency and Cox proportional hazards regression analyses to compare SNHL risk between groups. RESULTS: At age 18 years, SNHL prevalence was 25% (95% confidence interval [CI]: 17%–36%) among case-patients and 8% (95% CI: 3%–22%) in controls (hazard ratio [HR]: 4.0; 95% CI: 1.2–14.5; P = .02). Among children without SNHL by age 5 years, the risk of delayed-onset SNHL was not significantly greater for case-patients than for controls (HR: 1.6; 95% CI: 0.4–6.1; P = .5). Among case-patients, the risk of delayed-onset SNHL was significantly greater among those with unilateral congenital/early-onset hearing loss than those without (HR: 6.9; 95% CI: 2.5–19.1; P congenital cytomegalovirus infection continued to occur throughout adolescence. However, the risk of developing SNHL after age 5 years among case-patients was not different than in uninfected children. Overall, 2% of case-patients developed SNHL that was severe enough for them to be candidates for cochlear implantation. PMID:28209771

  15. Congenital anomalies of the coronary sinus: A pictorial essay

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Jung Eun; Kwon, Se Hwan; Oh, Joo Hyeong [Dept. of Radiology, College of Medicine, Kyung Hee University, Seoul (Korea, Republic of)

    2013-07-15

    Congenital anomalies involving the coronary sinus (CS) tend to receive relatively little attention because they rarely cause clinical symptoms or disturbances of cardiac function. However, as imaging modalities have been developed over time, the detailed anatomy of the heart, including CS anomalies, can now be evaluated more precisely. The purpose of this pictorial review is to illustrate multi-detector computed tomography findings of various congenital anomalies of the CS. The cardiac venous system and its embryologic development are also described in detail to familiarize radiologists with various congenital anomalies of the CS.

  16. Congenital intracerebral teratoma: a rare differential diagnosis in newborn hydrocephalus

    Energy Technology Data Exchange (ETDEWEB)

    Storr, U. [Landratsamt Neuburg-Schrobenhausen, Gesundheitsamt, Neuburg an der Donau (Germany)]|[Hospital for Sick Children, Erlangen-Nuernberg Univ., Nuernberg (Germany); Rupprecht, T. [Hospital for Sick Children, Erlangen-Nuernberg Univ., Nuernberg (Germany); Bornemann, A. [Inst. for General Pathology, Erlangen-Nuernberg Univ., Nuernberg (Germany); Ries, M. [Hospital for Sick Children, Erlangen-Nuernberg Univ., Nuernberg (Germany); Beinder, E. [Dept. of Obstetrics and Gynecology, Erlangen-Nuernberg Univ., Nuernberg (Germany); Boewing, B. [Hospital for Sick Children, Erlangen-Nuernberg Univ., Nuernberg (Germany); Harms, D. [Hospital for Sick Children, Erlangen-Nuernberg Univ., Nuernberg (Germany)

    1997-03-01

    Cogenital hydrocephalus is caused by a broad spectrum of underlying disorders. In the majority of cases it is due to aqueductal stenosis and other distinct congenital anomalies, like Arnold-Chiari malformation. Nevertheless, in the differential diagnosis rare conditions such as cerebral malignancies must also be considered. We present two cases of congenital intracerebral teratoma as a differential diagnosis in congenital obstructive hydrocephalus. A teratoma is suggested when a rapidly growing hydrocephalus with a central calcified and vascularized mass is found sonographically. Regular cerebral structures using cannot be detected. Early diagnosis in such cases is of clinical importance as the prognosis of congential intracerebral teratoma is generally very poor. (orig.)

  17. Respiratory distress of the newborn: congenital laryngeal atresia.

    Science.gov (United States)

    Ambrosio, Art; Magit, Anthony

    2012-11-01

    Congenital laryngeal atresia is a rare cause of respiratory distress of the newborn. The defect may be isolated or occur in association with other congenital abnormalities, notably the presence of a tracheoesophageal fistula, esophageal atresia, encephalocele, or Congenital High Airway Obstructive Syndrome (CHAOS). We present the case of a newborn with no identified intrapartum abnormalities with respiratory distress at birth secondary to near-complete laryngeal atresia. Management included tracheostomy, repeated endoscopic incisions, and serial balloon dilatations employing the topical use of Mitomycin C. Seven year follow-up was significant for mobilization of the true vocal cords bilaterally, as well as successful decannulation. Published by Elsevier Ireland Ltd.

  18. A Road Map for the Global Elimination of Congenital Syphilis

    Directory of Open Access Journals (Sweden)

    Mary L. Kamb

    2010-01-01

    Full Text Available Congenital syphilis is the oldest recognized congenital infection, and continues to account for extensive global perinatal morbidity and mortality today. Serious adverse pregnancy outcomes caused by maternal syphilis infection are prevented with screening early in pregnancy and prompt treatment of women testing positive. Intramuscular penicillin, an inexpensive antibiotic on the essential medicine list of nations all over the world, effectively cures infection and prevents congenital syphilis. In fact, at a cost of $11–15 per disability adjusted life year (DALY averted, maternal syphilis screening and treatment is among the most cost-effective public health interventions in existence. Yet implementation of this basic public health intervention is sporadic in countries with highest congenital syphilis burden. We discuss the global burden of this devastating disease, current progress and ongoing challenges for its elimination in countries with highest prevalence, and next steps in ensuring a world free of preventable perinatal deaths caused by syphilis.

  19. EAMJ Congenital.indd

    African Journals Online (AJOL)

    2010-02-02

    Feb 2, 2010 ... Consultative Hemostasis and Thrombosis. Kitchens. S.C., Alving B.M, Kessler C.M. 2nd Edition, 2007,. Saundres Elsevier, Philadelphia, PA, USA. 2. International Registry of Rare Bleeding Disorders website: www.rbdd.org Last accessed on 29th. November 2009. 3. Menache, D. Congenital fibrinogen ...

  20. Congenital syphilis who risk?

    African Journals Online (AJOL)

    1989-08-05

    Aug 5, 1989 ... The prevalence of syphilis (or positive serology) in pregnant mothers delivering at ... with penicillin. The treponemes are as sensitive to penicillin today as they were when this therapy was introduced by. Mahney and Harris in 1934.1 Although congenital syphilis is a potentially preventable disease, it was ...