Cochlear implantation for severe sensorineural hearing loss caused by lightning.

Science.gov (United States)

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.

[Congenital sensorineural deafness and associated syndromes].

Science.gov (United States)

Moatti, L; Garabedian, E N; Lacombe, H; Spir-Jacob, C

1990-01-01

The etiology of perceptive deafness, especially the congenital variety, requires investigation. The presence of a variety of signs associated with deafness constitutes an "associated syndrome" and helps to define a possible genetic origin. These syndromes only represent a small percentage of overall causes of deafness in children, since at most they account for only 10% of cases. Certain syndromes are encountered more often or are well known, others are extremely rare or have only been described recently. The authors report six of these very rare syndromes discovered among their patients: a KID syndrome, a Leopard syndrome, a Norrie syndrome, a Jervell and Lange Nielsen syndrome, a recently described entity called CEE with deafness and an External Neuro-Cochleo-Pancreatic syndrome which would not appear to have been previously described.

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

Science.gov (United States)

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.

Mondini dysplasia and congenital cytomegalovirus infection.

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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.

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

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.

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.

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

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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.

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

Science.gov (United States)

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.

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

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

Science.gov (United States)

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.

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

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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.

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

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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.

Congenital inner ear malformations without sensorineural hearing loss.

Science.gov (United States)

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.

Congenital cytomegalovirus infection: treatment, sequelae and follow-up.

Science.gov (United States)

Lombardi, Giuseppina; Garofoli, Francesca; Stronati, Mauro

2010-10-01

Cytomegalovirus (CMV) is the most common cause of congenital infection affecting about 1% of all the live births worldwide. Its prevalence in the developed world seems to be slightly lower, ranging between 0.6 and 0.7%. Symptoms can be detected at birth in 10-15% of the congenitally infected of which 50-90% will develop sequelae, the most frequent being sensorineural hearing loss (SNHL), visual defect, psychomotor impairment, mental retardation, cerebral palsy and seizures. Eighty-five to 90% of the infected newborns are asymptomatic but 10-15% of them are equally at risk for sensorineural sequelae, like 20-30% of all the infected children. Therefore it is important a time prolonged and closer follow-up of infected children that we propose should be until 6 years of age. This should lead to an early intervention, better management and eventually even control the long-term sequelae. Infants born with symptomatic congenital infection have a worse prognosis than those with no evidence of clinical disease, and ganciclovir (GCV) intravenous 6 mg/kg every 12 h for 6 weeks is the most used therapy for symptomatic newborns. Valganciclovir (V-GCV) syrup is a pro-drug of GCV and presents high oral bioavailability. To date, it is possible to administer this drug at home, and the tolerability profile may allow for wider indications and longer treatments.

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.

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.

P300 in individuals with sensorineural hearing loss.

Science.gov (United States)

Reis, Ana Cláudia Mirandola Barbosa; Frizzo, Ana Claudia Figueiredo; Isaac, Myriam de Lima; Garcia, Cristiane Fregonesi Dutra; Funayama, Carolina Araújo Rodrigues; Iório, Maria Cecília Martinelli

2015-01-01

Behavioral and electrophysiological auditory evaluations contribute to the understanding of the auditory system and of the process of intervention. To study P300 in subjects with severe or profound sensorineural hearing loss. 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. A recording of the P3 wave was obtained in 17 individuals, with a mean latency of 326.97ms and mean amplitude of 3.76V. 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. 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. Copyright © 2014 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. Published by Elsevier Editora Ltda. All rights reserved.

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...

Delayed diagnosis of a patient with Usher syndrome 1C in a Louisiana Acadian family highlights the necessity of timely genetic testing for the diagnosis and management of congenital hearing loss.

Science.gov (United States)

Umrigar, Ayesha; Musso, Amanda; Mercer, Danielle; Hurley, Annette; Glausier, Cassondra; Bakeer, Mona; Marble, Michael; Hicks, Chindo; Tsien, Fern

2017-01-01

Advances in sequencing technologies and increased understanding of the contribution of genetics to congenital sensorineural hearing loss have led to vastly improved outcomes for patients and their families. Next-generation sequencing and diagnostic panels have become increasingly reliable and less expensive for clinical use. Despite these developments, the diagnosis of genetic sensorineural hearing loss still presents challenges for healthcare providers. Inherited sensorineural hearing loss has high levels of genetic heterogeneity and variable expressivity. Additionally, syndromic hearing loss (hearing loss and additional clinical abnormalities) should be distinguished from non-syndromic (hearing loss is the only clinical symptom). Although the diagnosis of genetic sensorineural hearing loss can be challenging, the patient's family history and ethnicity may provide critical information, as certain genetic mutations are more common in specific ethnic populations. The early identification of the cause of deafness can benefit patients and their families by estimating recurrence risks for future family planning and offering the proper interventions to improve their quality of life. Collaboration between pediatricians, audiologists, otolaryngologists, geneticists, and other specialists are essential in the diagnosis and management of patients with hearing disorders. An early diagnosis is vital for proper management and care, as some clinical manifestations of syndromic sensorineural hearing loss are not apparent at birth and have a delayed age of onset. We present a case of Usher syndrome (congenital deafness and childhood-onset blindness) illustrating the challenges encountered in the diagnosis and management of children presenting with congenital genetic sensorineural hearing loss, along with helpful resources for clinicians and families.

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

2018-04-01

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.

Genetically caused congenital anomalies of reproductive system

Directory of Open Access Journals (Sweden)

L. F. Kurilo

2013-01-01

Full Text Available Classification of congenital disorders, their frequency of occurrence in populations, and some terminology questions discussed in the review. Genetically caused congenital anomalies of reproductive system are outlined. Full information about genetic syndromes is stated in the book: Kozlova S.I., Demikova N.S. Hereditary syndromes and genetic counseling. M., 2007.

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.

[Sensorineural hearing loss due to neonatal hyperbilirubinemia].

Science.gov (United States)

Clarós, P; Turcanu, D; Caballero, M; Costa, C; Clavería, M A; Clarós, A; Clarós, A

2003-01-01

In this article, the sensorineural hearing loss is presented as a possible sequelae of neonatal hyperbilirubinemia. In our program of early hipoacusia detection, 241 babies were examined from January 1996 until November 1999; 7 cases had a history of hyperbilirubinemia in the neonatal period and 2 of them were diagnosed of sensorineural hearing loss. We discuss how the bilirubin or any other associated factor might have been the cause and this could explain the selective affectation of some children.

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.

Congenital non-syndromal autosomal recessive deafness in Bengkala, an isolated Balinese village.

Science.gov (United States)

Winata, S; Arhya, I N; Moeljopawiro, S; Hinnant, J T; Liang, Y; Friedman, T B; Asher, J H

1995-01-01

Bengkala is an Indonesian village located on the north shore of Bali that has existed for over 700 years. Currently, 2.2% of the 2185 people in this village have profound congenital deafness. In response to the high incidence of deafness, the people of Bengkala have developed a village specific sign language which is used by many of the hearing and deaf people. Deafness in Bengkala is congenital, sensorineural, non-syndromal, and caused by a fully penetrant autosomal recessive mutation at the DFNB3 locus. The frequency of the DFNB3 mutation is estimated to be 9.4% among hearing people who have a 17.2% chance of being heterozygous for DFNB3. PMID:7616538

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.

A Neutralizing Anti-gH/gL Monoclonal Antibody Is Protective in the Guinea Pig Model of Congenital CMV Infection

Science.gov (United States)

Auerbach, Marcy R.; Yan, Donghong; Vij, Rajesh; Hongo, Jo-Anne; Nakamura, Gerald; Vernes, Jean-Michel; Meng, Y. Gloria; Lein, Samantha; Chan, Pamela; Ross, Jed; Carano, Richard; Deng, Rong; Lewin-Koh, Nicholas; Xu, Min; Feierbach, Becket

2014-01-01

Human cytomegalovirus (HCMV) is the most common cause of congenital virus infection. Congenital HCMV infection occurs in 0.2–1% of all births, and causes birth defects and developmental abnormalities, including sensorineural hearing loss and developmental delay. Several key studies have established the guinea pig as a tractable model for the study of congenital HCMV infection and have shown that polyclonal antibodies can be protective [1]–[3]. In this study, we demonstrate that an anti-guinea pig CMV (GPCMV) glycoprotein H/glycoprotein L neutralizing monoclonal antibody protects against fetal infection and loss in the guinea pig. Furthermore, we have delineated the kinetics of GPCMV congenital infection, from maternal infection (salivary glands, seroconversion, placenta) to fetal infection (fetus and amniotic fluid). Our studies support the hypothesis that a neutralizing monoclonal antibody targeting an envelope GPCMV glycoprotein can protect the fetus from infection and may shed light on the therapeutic intervention of HCMV congenital infection in humans. PMID:24722349

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

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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.

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

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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.

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.

Acute sensorineural hearing loss and severe otalgia due to scrub typhus

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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.

Murine model for congenital CMV infection and hearing impairment

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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.

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 ...

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 va...... 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.......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...... 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...

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

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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..

Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome with a mutation

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Yong Suk Shim

2015-03-01

Full Text Available Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome is an autosomal dominant disease caused by mutations in the GATA3 gene on chromosome 10p15. We identified a patient diagnosed with hypoparathyroidism who also had a family history of hypoparathyroidism and sensorineural deafness, present in the father. The patient was subsequently diagnosed and found to be a heterozygote for an insertion mutation c.255_256ins4 (GTGC in exon 2 of GATA3. His father was also confirmed to have the same mutation in GATA3.

38 CFR 17.149 - Sensori-neural aids.

Science.gov (United States)

2010-07-01

... 38 Pensions, Bonuses, and Veterans' Relief 1 2010-07-01 2010-07-01 false Sensori-neural aids. 17... Prosthetic, Sensory, and Rehabilitative Aids § 17.149 Sensori-neural aids. (a) Notwithstanding any other provision of this part, VA will furnish needed sensori-neural aids (i.e., eyeglasses, contact lenses...

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

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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.

Congenital myopathy is caused by mutation of HACD1.

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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.

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

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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.

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.

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

Congenital Membrane Causing Duodenal Obstruction and Malpositioning of the Descending Colon

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Chee-Chee Koh

2013-08-01

Full Text Available A congenital membrane without intestinal malrotation is a rare cause of duodenal obstruction. Here we present an 11-year-old girl who had suffered from intermittent abdominal cramping pain and vomiting for more than 5 years. The image studies, including a plain abdomen roentgenogram and sonogram, showed no definite diagnosis. The upper gastrointestinal series and small bowel series showed the contrast was static over the third portion of the duodenum and the descending colon pulled up toward the epigastric area. Laparoscopic exploration revealed a congenital membrane extending from the right-side paraduodenal peritoneum through the third portion of the duodenum to the descending colon, which had caused obstruction of the third portion of the duodenum and malpositioning of the descending colon. To the best of our knowledge, this is the first case report in the literature where a congenital membrane caused both duodenal obstruction and malpositioning of the descending colon.

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

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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.

Sensorineural Deafness, Distinctive Facial Features and Abnormal Cranial Bones

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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

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

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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.

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

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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.

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

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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.

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.

Heterogeneity in Phenotype of Usher-Congenital Hyperinsulinism Syndrome

DEFF Research Database (Denmark)

Al Mutair, Angham N; Brusgaard, Klaus; Bin-Abbas, Bassam

2013-01-01

OBJECTIVETo evaluate the phenotype of 15 children with congenital hyperinsulinism (CHI) and profound hearing loss, known as homozygous 11p15-p14 deletion syndrome (MIM #606528).METHODSProspective clinical follow-up and genetic analysis by direct sequencing, Multiplex Ligation-dependent Probe Ampl.......CONCLUSIONSThe phenotype of homozygous 11p15-p14 deletion syndrome, or Usher-CHI syndrome, includes any severity of neonatal-onset CHI and severe, sensorineural hearing loss. Retinitis pigmentosa and nonautoimmune diabetes may occur in adolescence.......OBJECTIVETo evaluate the phenotype of 15 children with congenital hyperinsulinism (CHI) and profound hearing loss, known as homozygous 11p15-p14 deletion syndrome (MIM #606528).METHODSProspective clinical follow-up and genetic analysis by direct sequencing, Multiplex Ligation-dependent Probe...

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

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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.

Transplacental Human Herpesvirus 6 (HHV-6) Congenital Infection Caused by Maternal Chromosomally Integrated Virus

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Hall, Caroline Breese; Caserta, Mary T.; Schnabel, Kenneth C.; Shelley, Lynne M.; Carnahan, Jennifer A.; Marino, Andrea S.; Yoo, Christina; Lofthus, Geraldine K.

2009-01-01

Congenital HHV-6 infection results from germline passage of chromosomally-integrated HHV-6 (CI-HHV-6) and from transplacental passage of maternal HHV-6 infection (TP-HHV-6). We aimed to determine if CI-HHV-6 could replicate and cause TP-HHV-6 infection. HHV-6 DNA, variant type, and viral loads were determined on samples (cord blood, peripheral blood, saliva, urine, hair) from 6 infants with TP-HHV-6 and on their parents’ hair. No fathers, but all mothers of TP-HHV-6 infants had CI-HHV-6, and the mother's CI-HHV-6 variant was the same variant causing the TP-HHV-6 congenital infection. This suggests the possibility that CI-HHV-6 replicates, and may cause most, possibly all, congenital HHV-6 infections. PMID:20088693

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.

Genetics Home Reference: sensorineural deafness and male infertility

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... deafness and male infertility Sensorineural deafness and male infertility Printable PDF Open All Close All Enable Javascript ... expand/collapse boxes. Description Sensorineural deafness and male infertility is a condition characterized by hearing loss and ...

Congenital Cytomegalovirus Infection: New Prospects for Prevention and Therapy

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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

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.

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

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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.

Congenital cataracts in two siblings with Wolfram syndrome.

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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.

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)

Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

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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.

Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment.

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Schneider, Eberhard; Märker, Tina; Daser, Angelika; Frey-Mahn, Gabriele; Beyer, Vera; Farcas, Ruxandra; Schneider-Rätzke, Brigitte; Kohlschmidt, Nicolai; Grossmann, Bärbel; Bauss, Katharina; Napiontek, Ulrike; Keilmann, Annerose; Bartsch, Oliver; Zechner, Ulrich; Wolfrum, Uwe; Haaf, Thomas

2009-02-15

A homozygous reciprocal translocation, 46,XY,t(10;11),t(10;11), was detected in a boy with non-syndromic congenital sensorineural hearing impairment. Both parents and their four other children were heterozygous translocation carriers, 46,XX,t(10;11) and 46,XY,t(10;11), respectively. Fluorescence in situ hybridization of region-specific clones to patient chromosomes was used to localize the breakpoints within bacterial artificial chromosome (BAC) RP11-108L7 on chromosome 10q24.3 and within BAC CTD-2527F12 on chromosome 11q23.3. Junction fragments were cloned by vector ligation and sequenced. The chromosome 10 breakpoint was identified within the PDZ domain containing 7 (PDZD7) gene, disrupting the open reading frame of transcript PDZD7-C (without PDZ domain) and the 5'-untranslated region of transcript PDZD7-D (with one PDZ and two prolin-rich domains). The chromosome 11 breakpoint was localized in an intergenic segment. Reverse transcriptase-polymerase chain reaction analysis revealed PDZD7 expression in the human inner ear. A murine Pdzd7 transcript that is most similar in structure to human PDZD7-D is known to be expressed in the adult inner ear and retina. PDZD7 shares sequence homology with the PDZ domain-containing genes, USH1C (harmonin) and DFNB31 (whirlin). Allelic mutations in harmonin and whirlin can cause both Usher syndrome (USH1C and USH2D, respectively) and congenital hearing impairment (DFNB18 and DFNB31, respectively). Protein-protein interaction assays revealed the integration of PDZD7 in the protein network related to the human Usher syndrome. Collectively, our data provide strong evidence that PDZD7 is a new autosomal-recessive deafness-causing gene and also a prime candidate gene for Usher syndrome.

Disease: H00820 [KEGG MEDICUS

Lifescience Database Archive (English)

Full Text Available of congenital sensorineural hearing loss and pili torti. It is caused by mutations in BCS1L encoding a prot...62000 PMID:10694305 (description) ... AUTHORS ... Selvaag E ... TITLE ... Pili torti and sensorineural hearing los...ITLE ... The Bjornstad syndrome (sensorineural hearing loss and pili torti) disease gene maps to chromosome 2q34-36. ... JOURNAL ... Am J Hum Genet 62:1107-12 (1998) DOI:10.1086/301837 ...

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

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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.

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

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

Congenital infantile myofibroma causing intrauterine death in a twin

Science.gov (United States)

Aye, Christina Yi Ling; Gould, Steve; Akinsola, S Adeyemi

2011-01-01

While infantile myofibromatosis is the most common mesenchymal tumour of infancy, only around 300 cases have been reported. The authors report a 33-year-old para 1 with an uncomplicated, dichorionic diamniotic twin pregnancy who was diagnosed with an intrauterine death of one twin at 36+5 weeks gestation. At caesarean section, a macerated male stillborn weighing 2.72 kg was delivered. Postmortem examination revealed a pedunculated lesion attached to the left shoulder and underlying muscle consistent with a congenital myofibroma. The cause of death was postulated to be haemorrhage from the tumour surface causing fetal anaemia. PMID:22674951

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.

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.

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

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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

Sensorineural Hearing Loss following Carbon Monoxide Poisoning

Directory of Open Access Journals (Sweden)

Joseph P. Pillion

2012-01-01

Full Text Available A case study is presented of a 17-year-old male who sustained an anoxic brain injury and sensorineural hearing loss secondary to carbon monoxide poisoning. Audiological data is presented showing a slightly asymmetrical hearing loss of sensorineural origin and mild-to-severe degree for both ears. Word recognition performance was fair to poor bilaterally for speech presented at normal conversational levels in quiet. Management considerations of the hearing loss are discussed.

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

Sensorineural hearing loss in hemorrhagic dengue?

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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?

JS-X syndrome: A multiple congenital malformation with vocal cord paralysis, ear deformity, hearing loss, shoulder musculature underdevelopment, and X-linked recessive inheritance.

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Hoeve, Hans L J; Brooks, Alice S; Smit, Liesbeth S

2015-07-01

We report on a family with a not earlier described multiple congenital malformation. Several male family members suffer from laryngeal obstruction caused by bilateral vocal cord paralysis, outer and middle ear deformity with conductive and sensorineural hearing loss, facial dysmorphisms, and underdeveloped shoulder musculature. The affected female members only have middle ear deformity and hearing loss. The pedigree is suggestive of an X-linked recessive inheritance pattern. SNP-array revealed a deletion and duplication on Xq28 in the affected family members. A possible aetiology is a neurocristopathy with most symptoms expressed in structures derived from branchial arches. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

Sensorineural deafness, distinctive facial features, and abnormal cranial bones: a new variant of Waardenburg syndrome?

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

2008-07-15

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. 2008 Wiley-Liss, Inc.

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.

Congenital Abnormalities

Science.gov (United States)

... tube defects. However, there is also a genetic influence to this type of congenital anomaly. Unknown Causes The vast majority of congenital abnormalities have no known cause. This is particularly troubling for parents who plan to have more children, because there is no way to predict if ...

Kocuria kristinae-caused sepsis in an infant with congenital tufting enteropathy.

Science.gov (United States)

Aydin, Malik; Ganschow, Rainer; Jankofsky, Martin

2017-01-01

Aydin M, Ganschow R, Jankofsky M. Kocuria kristinae-caused sepsis in an infant with congenital tufting enteropathy. Turk J Pediatr 2017; 59: 93-96. Congenital tufting enteropathy (CTE) is characterized by the early-onset of chronic diarrhea and the inability to develop. It is a rare congenital disease with a low prevalence of 1:50,000 - 100,000 live births p.a. The histopathology is characterized by villous atrophy and the characteristic epithelial tufts. Recent identification of causative mutations in EpCAM has enhanced our understanding of this disease. Due to its severe clinical course, patients are dependent on parenteral nutrition to thrive successfully. Catheter-associated blood stream infections have become the primary problem for pediatric patients. Infections with Kocuria kristinae are rare. This report is about a 3-month-old girl with CTE suffering from a central venous catheter related mono-sepsis by K. kristinae. A sepsis therapy with meropenem and vancomycin improved her general state rapidly. Only few cases in the literature with CTE and K. kristinae are described. To the best of our knowledge, this is the first report presenting two coincidences in one case.

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.

Congenital analbuminemia caused by a novel aberrant splicing in the albumin gene.

Science.gov (United States)

Caridi, Gianluca; Dagnino, Monica; Erdeve, Omer; Di Duca, Marco; Yildiz, Duran; Alan, Serdar; Atasay, Begum; Arsan, Saadet; Campagnoli, Monica; Galliano, Monica; Minchiotti, Lorenzo

2014-01-01

Congenital analbuminemia is a rare autosomal recessive disorder manifested by the presence of a very low amount of circulating serum albumin. It is an allelic heterogeneous defect, caused by variety of mutations within the albumin gene in homozygous or compound heterozygous state. Herein we report the clinical and molecular characterization of a new case of congenital analbuminemia diagnosed in a female newborn of consanguineous (first degree cousins) parents from Ankara, Turkey, who presented with a low albumin concentration (A transition at position c.1652+1, the first base of intron 12, which inactivates the strongly conserved GT dinucleotide at the 5' splice site consensus sequence of this intron. The splicing defect results in the complete skipping of the preceding exon (exon 12) and in a frame-shift within exon 13 with a premature stop codon after the translation of three mutant amino acid residues. Our results confirm the clinical diagnosis of congenital analbuminemia in the proband and the inheritance of the trait and contribute to shed light on the molecular genetics of analbuminemia.

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

A novel GJA8 mutation (p.V44A causing autosomal dominant congenital cataract.

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Yanan Zhu

Full Text Available To examine the mechanism by which a novel connexin 50 (Cx50 mutation, Cx50 V44A, in a Chinese family causes suture-sparing autosomal dominant congenital nuclear cataracts.Family history and clinical data were recorded and direct gene sequencing was used to identify the disease-causing mutation. The Cx50 gene was cloned from a human lens cDNA library. Connexin protein distributions were assessed by fluorescence microscopy. Hemichannel functions were analyzed by dye uptake assay. Formation of functional channels was assessed by dye transfer experiments.Direct sequencing of the candidate GJA8 gene revealed a novel c.131T>C transition in exon 2, which cosegregated with the disease in the family and resulted in the substitution of a valine residue with alanine at codon 44 (p. V44A in the extracellular loop 1 of the Cx50 protein. Both Cx50 and Cx50V44A formed functional gap junctions, as shown by the neurobiotin transfer assay. However, unlike wild-type Cx50, Cx50V44A was unable to form open hemichannels in dye uptake experiments.This work identified a unique congenital cataract in the Chinese population, caused by the novel mutation Cx50V44A, and it showed that the V44A mutation specifically impairs the gating of the hemichannels but not the gap junction channels. The dysfunctional hemichannels resulted in the development of human congenital cataracts.

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

Causes of death in a contemporary adult congenital heart disease cohort.

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Yu, Christopher; Moore, Benjamin M; Kotchetkova, Irina; Cordina, Rachael L; Celermajer, David S

2018-04-17

The life expectancy of patients with congenital heart disease (CHD) has significantly improved with advances in their paediatric medical care. Mortality patterns are changing as a result. Our study aims to describe survival and causes of death in a contemporary cohort of adult patients with CHD. We reviewed 3068 patients in our adult CHD database (age ≥16 years, seen at least once in our centre between 2000 and 2015), and documented the number and causes of death, via Australia's National Death Index. Survival and mortality patterns were analysed by complexity of CHD and by underlying congenital diagnosis. Our cohort comprised 3068 adult patients (53% male). The distribution of patients (per the Bethesda classification) was 47% simple, 34% moderate and 18% complex (1% not classifiable). Over a median follow-up of 6.2 years (IQR 3.5-10.4), 341 patients (11%) died with an incidence of 0.4 deaths/100 patient years (py). Survival was significantly worse with increasing complexity of CHD (pdeaths/100 py with a median age of death 70 years, and in the complex group was 1.0 death/100 py with a median age of death 34 years. Overall, non-cardiac causes of death outnumbered cardiac causes, at 54% and 46%, respectively. The leading single cause of death was heart failure (17%), followed by malignancy (13%). Simple adult CHD patients mostly died due to non-cardiac causes such as malignancy. Perioperative mortality only accounted for 5% of deaths. Premature death is common in adults with CHD. Although heart failure remains the most common cause of death, in the contemporary era in a specialist CHD centre, non-cardiac related deaths outnumber cardiac deaths, particularly in those with simple CHD lesions. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

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

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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.

Gd enhanced MRI in sensorineural hearing loss

International Nuclear Information System (INIS)

Takenaka, Mika; Tono, Tetsuya; Toyama, Katsuhiro; Kano, Kiyo; Morimitsu, Tamotsu

1996-01-01

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)

Antenatal Bartter's syndrome with sensorineural deafness

OpenAIRE

Bhamkar, R. P.; Gajendragadkar, A.

2009-01-01

Bartter's syndrome is a group of inherited, salt-losing tubulopathies presenting as metabolic alkalosis with normotensive hyperreninemia and hyperaldosteronism. We report here the first case of a neonate with bilateral, sensorineural deafness, a variant of antenatal Bartter's syndrome from an Indian community.

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

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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.

Neonatal screening and a new cause of congenital central hypothyroidism

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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.

A FRMD7 variant in a Japanese family causes congenital nystagmus.

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Kohmoto, Tomohiro; Okamoto, Nana; Satomura, Shigeko; Naruto, Takuya; Komori, Takahide; Hashimoto, Toshiaki; Imoto, Issei

2015-01-01

Idiopathic congenital nystagmus (ICN) is a genetically heterogeneous eye movement disorder that causes a large proportion of childhood visual impairment. Here we describe a missense variant (p.L292P) within a mutation-rich region of FRMD7 detected in three affected male siblings in a Japanese family with X-linked ICN. Combining sequence analysis and results from structural and functional predictions, we report p.L292P as a variant potentially disrupting FRMD7 function associated with X-linked ICN.

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

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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

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

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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.

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

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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

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

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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

Sensorineural and conductive hearing loss in infants diagnosed in the program of universal newborn hearing screening.

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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

Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa

NARCIS (Netherlands)

Pierrache, Laurence H. M.; Hartel, Bas P.; van Wijk, Erwin; Meester-Smoor, Magda A.; Cremers, Frans P. M.; de Baere, Elfride; de Zaeytijd, Julie; van Schooneveld, Mary J.; Cremers, Cor W. R. J.; Dagnelie, Gislin; Hoyng, Carel B.; Bergen, Arthur A.; Leroy, Bart P.; Pennings, Ronald J. E.; van den Born, L. Ingeborgh; Klaver, Caroline C. W.

2016-01-01

USH2A mutations are an important cause of retinitis pigmentosa (RP) with or without congenital sensorineural hearing impairment. We studied genotype-phenotype correlations and compared visual prognosis in Usher syndrome type IIa and nonsyndromic RP. Clinic-based, longitudinal, multicenter study.

Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa

NARCIS (Netherlands)

Pierrache, Laurence H M; Hartel, Bas P; van Wijk, Erwin; Meester-Smoor, Magda A; Cremers, Frans P M; de Baere, Elfride; de Zaeytijd, Julie; van Schooneveld, Mary J; Cremers, Cor W R J; Dagnelie, Gislin; Hoyng, Carel B; Bergen, Arthur A; Leroy, Bart P; Pennings, Ronald J E; van den Born, L Ingeborgh; Klaver, Caroline C W

2016-01-01

PURPOSE: USH2A mutations are an important cause of retinitis pigmentosa (RP) with or without congenital sensorineural hearing impairment. We studied genotype-phenotype correlations and compared visual prognosis in Usher syndrome type IIa and nonsyndromic RP. DESIGN: Clinic-based, longitudinal,

A case of antenatal Bartter syndrome with sensorineural deafness.

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Lee, Hyun Seung; Cheong, Hae Il; Ki, Chang-Seok

2010-10-01

Bartter syndrome type IV, also known as Bartter syndrome with sensorineural deafness (BSND), is caused by loss-of-function mutations in the BSND gene, which encodes barttin, an accessory subunit of chloride channels located in the kidney and inner ear. Patients with BS IV have a highly variable clinical phenotype. This report concerns a Korean male patient with antenatal Bartter syndrome due to a homozygous BSND p.G47R mutation, who presented with severe perinatal symptoms followed by a relatively benign course with preserved renal function after early infancy. In addition, the clinical features and the laboratory data of the patient were compared with those of previously reported patients with the same mutation.

Management of Conductive Hearing Loss in Children.

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Dougherty, William; Kesser, Bradley W

2015-12-01

Conductive hearing loss (CHL), far more common than sensorineural hearing loss in children, can be acquired or congenital, can range from mild to moderately severe, and can be caused by a simple cerumen impaction, middle ear fluid, or complex middle ear abnormalities with or without the absence of the ear canal (congenital aural atresia). This article presents evidence-based recommendations for the evaluation and management of the child with both acquired and congenital CHL. Copyright © 2015 Elsevier Inc. All rights reserved.

A novel frameshift mutation of SMPX causes a rare form of X-linked nonsyndromic hearing loss in a Chinese family.

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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.

Metabolic Syndrome Increases the Risk of Sudden Sensorineural Hearing Loss in Taiwan: A Case-Control Study.

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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.

Pediatric Idiopathic Intracranial Hypertension Presenting With Sensorineural Hearing Loss.

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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.

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

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Leal, Mariana C; 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

2017-08-01

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.

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

Congenital platelet function defects

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... pool disorder; Glanzmann's thrombasthenia; Bernard-Soulier syndrome; Platelet function defects - congenital ... Congenital platelet function defects are bleeding disorders that cause reduced platelet function. Most of the time, people with these disorders have ...

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.

Cytomegalovirus Congenital Cataract

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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.

Sensorineural hearing loss and prematurity

OpenAIRE

Marlow, E.; Hunt, L.; Marlow, N.

2000-01-01

OBJECTIVE—To elucidate clinical antecedents of sensorineural hearing loss (SNHL) in very preterm infants.
DESIGN—Case-control study.
SUBJECTS—Fifteen children < 33 weeks' gestation with significant SNHL born between 1 January 1990 and 31 December 1994, detected within 9 months of birth, and 30 matched control children.
METHODOLOGY—Perinatal variables in the two groups were compared using non-parametric tests and conditional logistic regression (EGRET).
RESULTS—Median birth ...

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

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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.

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...

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.

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...

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.

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.

Causes of congenital unilateral pulmonary hypoplasia

International Nuclear Information System (INIS)

Currarino, G.; Williams, B.; Children's Medical Center, Dallas, TX

1985-01-01

A review of the roentgenograms and clinical records of 33 children with primary congenital underdevelopment of one lung showed that 9 patients had simple pulmonary hypoplasia, 8 had anomalous venous return to the right atrium or the inferior vena cava (scimitar syndrome), 7 had an absence of ipsilateral pulmonary artery, 7 had an accessory diaphragm, and 2 had a pulmonary sequestration adjacent to a small diaphragmatic hernia. (orig.)

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.

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.

A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene.

Science.gov (United States)

Bitner-Glindzicz, M; Lindley, K J; Rutland, P; Blaydon, D; Smith, V V; Milla, P J; Hussain, K; Furth-Lavi, J; Cosgrove, K E; Shepherd, R M; Barnes, P D; O'Brien, R E; Farndon, P A; Sowden, J; Liu, X Z; Scanlan, M J; Malcolm, S; Dunne, M J; Aynsley-Green, A; Glaser, B

2000-09-01

Usher syndrome type 1 describes the association of profound, congenital sensorineural deafness, vestibular hypofunction and childhood onset retinitis pigmentosa. It is an autosomal recessive condition and is subdivided on the basis of linkage analysis into types 1A through 1E. Usher type 1C maps to the region containing the genes ABCC8 and KCNJ11 (encoding components of ATP-sensitive K + (KATP) channels), which may be mutated in patients with hyperinsulinism. We identified three individuals from two consanguineous families with severe hyperinsulinism, profound congenital sensorineural deafness, enteropathy and renal tubular dysfunction. The molecular basis of the disorder is a homozygous 122-kb deletion of 11p14-15, which includes part of ABCC8 and overlaps with the locus for Usher syndrome type 1C and DFNB18. The centromeric boundary of this deletion includes part of a gene shown to be mutated in families with type 1C Usher syndrome, and is hence assigned the name USH1C. The pattern of expression of the USH1C protein is consistent with the clinical features exhibited by individuals with the contiguous gene deletion and with isolated Usher type 1C.

Gradual Recovery from Bilateral Severe Sensorineural Hearing Loss post Motor Vehicle Accident.

Science.gov (United States)

Yaroko, A A; Shahrjerdi, B; M D, Md Khairi

2013-04-01

Sensorineural hearing loss following trauma is a common finding in daily clinical practice and usually associated with a poor prognosis. Our case illustrates a patient who was involved in motor vehicle accident sustaining bilateral severe to profound sensorineural hearing loss but subsequently recovered fully after two years. Unless there is clear trauma to the cochlea or auditory nerve, a substantial duration of follow up is needed in the treatment of such cases.

[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.

Sensorineural hearing loss following irradiation to the malignant tumor of the head and neck

International Nuclear Information System (INIS)

Murakami, Masafumi; Kobari, Hitomi; Kanno, Hidetaka; Aikawa, Tohru; Anzai, Tomohiro; Okamura, Hiro-oki; Ohtani, Iwao; Hoshino, Toshiaki

1989-01-01

We observed sensorineural hearing loss following X-ray irradiation to the malignant tumor of head and neck. There were 24 patients whose auditory organs lied within the irradiation field. Ten of these patients were affected by sensorineural hearing loss. Hearing loss occurred at a high frequency in elderly patients, epipharynx tumor and high dose of irradiation. Many cases revealed high tone hearing loss. Most cases showed about a 20∼30 dB hearing loss, so their impediment seemed not severe in daily life. In some of these cases, we could have temporal bone findings, but there were no particular findings relevant to sensorineural hearing loss. (author)

Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human

NARCIS (Netherlands)

Charizopoulou, N.; Lelli, A.; Schraders, M.; Ray, K.; Hildebrand, M.S.; Ramesh, A.; Srisailapathy, C.R.; Oostrik, J.; Admiraal, R.J.C.; Neely, H.R.; Latoche, J.R.; Smith, R.J.; Northup, J.K.; Kremer, J.M.J.; Holt, J.R.; Noben-Trauth, K.

2011-01-01

Sensorineural hearing loss affects the quality of life and communication of millions of people, but the underlying molecular mechanisms remain elusive. Here, we identify mutations in Gipc3 underlying progressive sensorineural hearing loss (age-related hearing loss 5, ahl5) and audiogenic seizures

Novel Splicing Mutation in B3GAT3 Associated with Short Stature, GH Deficiency, Hypoglycaemia, Developmental Delay, and Multiple Congenital Anomalies

Directory of Open Access Journals (Sweden)

Samuel Bloor

2017-01-01

Full Text Available B3GAT3, encoding β-1,3-glucuronyltransferase 3, has an important role in proteoglycan biosynthesis. Homozygous B3GAT3 mutations have been associated with short stature, skeletal deformities, and congenital heart defects. We describe for the first time a novel heterozygous splice site mutation in B3GAT3 contributing to severe short stature, growth hormone (GH deficiency, recurrent ketotic hypoglycaemia, facial dysmorphism, and congenital heart defects. A female infant, born at 34 weeks’ gestation to nonconsanguineous Caucasian parents with a birth weight of 1.9 kg, was noted to have cloacal abnormality, ventricular septal defect, pulmonary stenosis, and congenital sensorineural deafness. At 4 years of age, she was diagnosed with GH deficiency due to her short stature (height G in the invariant “GT” splice donor site was identified. This variant is considered to be pathogenic as it decreases the splicing efficiency in the mRNA.

Static and dynamic balance of children and adolescents with sensorineural hearing loss

OpenAIRE

Melo, Renato de Souza; Marinho, Sônia Elvira dos Santos; Freire, Maryelly Evelly Araújo; Souza, Robson Arruda; Damasceno, Hélio Anderson Melo; Raposo, Maria Cristina Falcão

2017-01-01

ABSTRACT Objective To assess the static and dynamic balance performance of students with normal hearing and with sensorineural hearing loss. Methods A cross-sectional study assessing 96 students, 48 with normal hearing and 48 with sensorineural hearing loss of both sexes, aged 7 and 18 years. To evaluate static balance, Romberg, Romberg-Barré and Fournier tests were used; and for the dynamic balance, we applied the Unterberger test. Results Hearing loss students showed more changes in static ...

Static and dynamic balance of children and adolescents with sensorineural hearing loss

OpenAIRE

Melo, Renato de Souza; Marinho, Sônia Elvira dos Santos; Freire, Maryelly Evelly Araújo; Souza, Robson Arruda; Damasceno, Hélio Anderson Melo; Raposo, Maria Cristina Falcão

2017-01-01

ABSTRACT Objective To assess the static and dynamic balance performance of students with normal hearing and with sensorineural hearing loss. Methods A cross-sectional study assessing 96 students, 48 with normal hearing and 48 with sensorineural hearing loss of both sexes, aged 7 and 18 years. To evaluate static balance, Romberg, Romberg-Barré and Fournier tests were used; and for the dynamic balance, we applied the Unterberger test. Results Hearing loss students showed more changes in s...

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)

[An uncommon cause of hypocalcemic convulsion: congenital rickets. Case report].

Science.gov (United States)

Karabel, Duran; Karabel, Musemma; Yilmaz, Ayse Esra; Tas, Tugba; Karayel, Metin

2012-12-01

Vitamin D deficiency and rickets are major health problems in developing countries. Congenital rickets is a rare form of rickets. Maternal vitamin D deficiency is the most important risk factor for vitamin D deficiency and rickets in newborns and early infancy. In this report, we presented a two-month old infant with seizures while hospitalized for pulmonary infection. Finally, congenital rickets due to maternal vitamin D deficiency was diagnosed.

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.

Dual Pathology Causing Congenital Bladder Outlet Obstruction.

Science.gov (United States)

Kwong, Ruth; Johal, Navroop S; Upasani, Anand; Paul, Anu; Cuckow, Peter

2017-12-07

Anterior urethral syringocele is an uncommon congenital deformity characterised by cystic dilatation of bulbo-urethral gland ducts and is usually asymptomatic. We present a case on 4-day-old male neonate who presented with bilateral antenatal hydroureteronephrosis and renal impairment and found to have urethral syringocele and posterior urethral valves (PUV). Copyright © 2017. Published by Elsevier Inc.

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...

Animal Model of Sensorineural Hearing Loss Associated with Lassa Virus Infection.

Science.gov (United States)

Yun, Nadezhda E; Ronca, Shannon; Tamura, Atsushi; Koma, Takaaki; Seregin, Alexey V; Dineley, Kelly T; Miller, Milagros; Cook, Rebecca; Shimizu, Naoki; Walker, Aida G; Smith, Jeanon N; Fair, Joseph N; Wauquier, Nadia; Bockarie, Bayon; Khan, Sheik Humarr; Makishima, Tomoko; Paessler, Slobodan

2015-12-30

Approximately one-third of Lassa virus (LASV)-infected patients develop sensorineural hearing loss (SNHL) in the late stages of acute disease or in early convalescence. With 500,000 annual cases of Lassa fever (LF), LASV is a major cause of hearing loss in regions of West Africa where LF is endemic. To date, no animal models exist that depict the human pathology of LF with associated hearing loss. Here, we aimed to develop an animal model to study LASV-induced hearing loss using human isolates from a 2012 Sierra Leone outbreak. We have recently established a murine model for LF that closely mimics many features of human disease. In this model, LASV isolated from a lethal human case was highly virulent, while the virus isolated from a nonlethal case elicited mostly mild disease with moderate mortality. More importantly, both viruses were able to induce SNHL in surviving animals. However, utilization of the nonlethal, human LASV isolate allowed us to consistently produce large numbers of survivors with hearing loss. Surviving mice developed permanent hearing loss associated with mild damage to the cochlear hair cells and, strikingly, significant degeneration of the spiral ganglion cells of the auditory nerve. Therefore, the pathological changes in the inner ear of the mice with SNHL supported the phenotypic loss of hearing and provided further insights into the mechanistic cause of LF-associated hearing loss. Sensorineural hearing loss is a major complication for LF survivors. The development of a small-animal model of LASV infection that replicates hearing loss and the clinical and pathological features of LF will significantly increase knowledge of pathogenesis and vaccine studies. In addition, such a model will permit detailed characterization of the hearing loss mechanism and allow for the development of appropriate diagnostic approaches and medical care for LF patients with hearing impairment. Copyright © 2016, American Society for Microbiology. All Rights

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).

Deprivation amblyopia and congenital hereditary cataract.

Science.gov (United States)

Mansouri, Behzad; Stacy, Rebecca C; Kruger, Joshua; Cestari, Dean M

2013-01-01

Amblyopia is a neurodevelopmental disorder of vision associated with decreased visual acuity, poor or absent stereopsis, and suppression of information from one eye.(1,2) Amblyopia may be caused by strabismus (strabismic amblyopia), refractive error (anisometropic amblyopia), or deprivation from obstructed vision (deprivation amblyopia). 1 In the developed world, amblyopia is the most common cause of childhood visual impairment, 3 which reduces quality of life 4 and also almost doubles the lifetime risk of legal blindness.(5, 6) Successful treatment of amblyopia greatly depends on early detection and treatment of predisposing disorders such as congenital cataract, which is the most common cause of deprivational amblyopia. Understanding the genetic causes of congenital cataract leads to more effective screening tests, early detection and treatment of infants and children who are at high risk for hereditary congenital cataract.

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.

Deficiência auditiva na toxoplasmose congênita detectada pela triagem neonatal Hearing loss in congenital toxoplasmosis detected by newborn screening

Directory of Open Access Journals (Sweden)

Gláucia Manzan Queiroz de Andrade

2008-02-01

Full Text Available A toxoplasmose congênita pode causar déficit neurossensorial em até 20% dos casos e o tratamento no primeiro ano de vida melhora o prognóstico. No Brasil, desconhece-se o impacto da infecção na hipoacusia. OBJETIVO: Avaliar a audição de crianças com toxoplasmose congênita identificadas pela triagem neonatal. MATERIAL E MÉTODO: Estudo prospectivo de crianças com toxoplasmose congênita identificadas pela triagem neonatal (IgM anti-T. gondii em Belo Horizonte, durante 2003/2004. Realizada sorologia confirmatória (mãe/filho e consideradas positivas as crianças apresentando IgM e/ou IgA nos primeiros seis meses ou IgG aos 12 meses de vida. Avaliações auditivas ao diagnóstico e após 12 meses incluíram Audiometria Comportamental, Emissões Otoacústicas, Imitanciometria, Audiometria de Tronco Encefálico. RESULTADOS: Dentre 30.808 crianças triadas (97% dos nascidos vivos, 20 apresentavam toxoplasmose congênita, 15 (75% com infecção subclínica. Dezenove crianças realizaram avaliação auditiva. Quatro apresentaram déficit neurossensorial (21,1%. Uma criança apresentou outros fatores de risco para hipoacusia; nas outras três, a toxoplasmose foi o único fator observado. Duas crianças, tratadas adequadamente com antiparasitários, apresentaram déficit auditivo, em desacordo com a literatura. CONCLUSÃO: Os achados sugerem que a toxoplasmose congênita, prevalente no Brasil, é um fator de risco para hipoacusia e o impacto dessa infecção nas perdas auditivas deve ser estudado.Congenital toxoplasmosis may cause sensorineural deficit in up to 20% of the patients and proper treatment in the first year improves prognosis. In Brazil, this infection’s impact on hearing impairment is unknown. AIM: To evaluate hearing of newborns with congenital toxoplasmosis identified by the newborn screening service. METHOD: This prospective study analyzed children with congenital toxoplasmosis identified by newborn screening (IgM anti

Multifocal Congenital Hemangiopericytoma.

Science.gov (United States)

Robl, Renata; Carvalho, Vânia Oliveira; Abagge, Kerstin Taniguchi; Uber, Marjorie; Lichtvan, Leniza Costa Lima; Werner, Betina; Mehrdad Nadji, Mehrdad

2017-01-01

Congenital hemangiopericytoma (HPC) is a rare mesenchymal tumor with less aggressive behavior and a more favorable prognosis than similar tumors in adults. Multifocal presentation is even less common than isolated HPC and hence its clinical and histologic recognition may be challenging. A newborn infant with multifocal congenital HPC causing severe deformity but with a favorable outcome after chemotherapy and surgical removal is reported. © 2016 Wiley Periodicals, Inc.

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.

Postural control assessment in students with normal hearing and sensorineural hearing loss.

Science.gov (United States)

Melo, Renato de Souza; Lemos, Andrea; Macky, Carla Fabiana da Silva Toscano; Raposo, Maria Cristina Falcão; Ferraz, Karla Mônica

2015-01-01

Children with sensorineural hearing loss can present with instabilities in postural control, possibly as a consequence of hypoactivity of their vestibular system due to internal ear injury. To assess postural control stability in students with normal hearing (i.e., listeners) and with sensorineural hearing loss, and to compare data between groups, considering gender and age. This cross-sectional study evaluated the postural control of 96 students, 48 listeners and 48 with sensorineural hearing loss, aged between 7 and 18 years, of both genders, through the Balance Error Scoring Systems scale. This tool assesses postural control in two sensory conditions: stable surface and unstable surface. For statistical data analysis between groups, the Wilcoxon test for paired samples was used. Students with hearing loss showed more instability in postural control than those with normal hearing, with significant differences between groups (stable surface, unstable surface) (ppostural control compared to normal hearing students of the same gender and age. Copyright © 2014 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. Published by Elsevier Editora Ltda. All rights reserved.

Constraint-induced sound therapy for sudden sensorineural hearing loss – behavioral and neurophysiological outcomes

OpenAIRE

Hidehiko Okamoto; Munehisa Fukushima; Henning Teismann; Lothar Lagemann; Tadashi Kitahara; Hidenori Inohara; Ryusuke Kakigi; Christo Pantev

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 ...

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

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

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

Sonic Hedgehog mutations are not a common cause of congenital hypopituitarism in the absence of complex midline cerebral defects.

Science.gov (United States)

Paulo, Sabrina Soares; Fernandes-Rosa, Fábio L; Turatti, Wendy; Coeli-Lacchini, Fernanda Borchers; Martinelli, Carlos E; Nakiri, Guilherme S; Moreira, Ayrton C; Santos, Antônio C; de Castro, Margaret; Antonini, Sonir R

2015-04-01

Sonic Hedgehog (SHH) and GLI2, an obligatory mediator of SHH signal transduction, are holoprosencephaly (HPE)-associated genes essential in pituitary formation. GLI2 variants have been found in patients with congenital hypopituitarism without complex midline cerebral defects (MCD). However, data on the occurrence of SHH mutations in these patients are limited. We screened for SHH and GLI2 mutations or copy number variations (CNV) in patients with congenital hypopituitarism without MCD or with variable degrees of MCD. Detailed data on clinical, laboratory and neuroimaging findings of 115 patients presenting with congenital hypopituitarism without MCD, septo-optic dysplasia or HPE were analysed. The SHH and GLI2 genes were directly sequenced, and the presence of gene CNV was analysed by multiplex ligation-dependent probe amplification (MLPA). Anterior pituitary deficiency was found in 74% and 53% of patients with SOD or HPE, respectively. Diabetes insipidus was common in patients with HPE (47%) but infrequent in patients with congenital hypopituitarism or SOD (7% and 8%, respectively). A single heterozygous nonsense SHH mutation (p.Tyr175Ter) was found in a patient presenting with hypopituitarism and alobar HPE. No other SHH mutations or CNV were found. Nine GLI2 variations (8 missense and 1 frameshift) including a homozygous and a compound heterozygous variation were found in patients with congenital hypopituitarism or SOD, but not in HPE patients. No GLI2 CNV were found. SHH mutations or copy number variations are not a common cause of congenital hypopituitarism in patients without complex midline cerebral defects. GLI2 variants are found in some patients with congenital hypopituitarism without complex midline cerebral defects or septo-optic dysplasia. However, functional analyses of these variants are needed to strengthen genotype-phenotype relationship. © 2014 John Wiley & Sons Ltd.

Congenital Infantile Fibrosarcoma Causing Intestinal Perforation in a Newborn

Directory of Open Access Journals (Sweden)

Margarita Kaiser

2017-01-01

Full Text Available Congenital infantile fibrosarcoma (CIF is a rare malignant mesenchymal tumor and only 14 cases have been reported with gastrointestinal manifestation. We report about a female newborn delivered per emergency cesarean section at 34 weeks of gestation. Postnatally, she rapidly developed an acute abdomen and sonographic evidence of intestinal perforation requiring laparotomy on the first day of life. A perforated 2 × 3 cm sized spherical tumorous structure of the jejunum was identified. Due to unknown histopathology at this point and unclear resectional margins, she received a temporary ileostomy, which was closed two months later. Histopathology revealed a congenital intestinal fibrosarcoma without the characteristic ETV6-NTRK3 fusion transcript. In conclusion, this rare tumor must be considered as differential diagnosis of intestinal perforations in newborns.

Brainstem auditory evoked responses in an equine patient population: part I--adult horses.

Science.gov (United States)

Aleman, M; Holliday, T A; Nieto, J E; Williams, D C

2014-01-01

Brainstem auditory evoked response has been an underused diagnostic modality in horses as evidenced by few reports on the subject. To describe BAER findings, common clinical signs, and causes of hearing loss in adult horses. Study group, 76 horses; control group, 8 horses. Retrospective. BAER records from the Clinical Neurophysiology Laboratory were reviewed from the years of 1982 to 2013. Peak latencies, amplitudes, and interpeak intervals were measured when visible. Horses were grouped under disease categories. Descriptive statistics and a posthoc Bonferroni test were performed. Fifty-seven of 76 horses had BAER deficits. There was no breed or sex predisposition, with the exception of American Paint horses diagnosed with congenital sensorineural deafness. Eighty-six percent (n = 49/57) of the horses were younger than 16 years of age. The most common causes of BAER abnormalities were temporohyoid osteoarthropathy (THO, n = 20/20; abnormalities/total), congenital sensorineural deafness in Paint horses (17/17), multifocal brain disease (13/16), and otitis media/interna (4/4). Auditory loss was bilateral and unilateral in 74% (n = 42/57) and 26% (n = 15/57) of the horses, respectively. The most common causes of bilateral auditory loss were sensorineural deafness, THO, and multifocal brain disease whereas THO and otitis were the most common causes of unilateral deficits. Auditory deficits should be investigated in horses with altered behavior, THO, multifocal brain disease, otitis, and in horses with certain coat and eye color patterns. BAER testing is an objective and noninvasive diagnostic modality to assess auditory function in horses. Copyright © 2014 by the American College of Veterinary Internal Medicine.

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.

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.

Congenital hearing impairment

Energy Technology Data Exchange (ETDEWEB)

Robson, Caroline D. [Children' s Hospital and Harvard Medical School, Division of Neuroradiology, Department of Radiology, Boston, MA (United States)

2006-04-15

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.)

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.)

Prevalence and Aetiology of Congenitally Deafblind People in Denmark

DEFF Research Database (Denmark)

Dammeyer, Jesper Herup

2010-01-01

A study of prevalence and aetiology was performed on 63 children and 127 adults in Denmark with congenital deafblindness. Using a Scandinavian definition of deafblindness, the prevalence of congenital deafblindness was found to be 1:29,000. Thirty-five different aetiological causes of deafblindness...... were found. Causes of congenital deafblindness were different among adults compared to causes among children. Rubella syndrome (28%, n = 36) and Down syndrome (8%, n = 10) were the largest groups among people above 18 years of age. Among children CHARGE syndrome (16%, n = 13) was the largest group...

The genetics of congenital heart disease… understanding and improving long-term outcomes in congenital heart disease: a review for the general cardiologist and primary care physician.

Science.gov (United States)

Simmons, M Abigail; Brueckner, Martina

2017-10-01

This review has two purposes: to provide an updated review of the genetic causes of congenital heart disease (CHD) and the clinical implications of these genetic mutations, and to provide a clinical algorithm for clinicians considering a genetics evaluation of a CHD patient. A large portion of congenital heart disease is thought to have a significant genetic contribution, and at this time a genetic cause can be identified in approximately 35% of patients. Through the advances made possible by next generation sequencing, many of the comorbidities that are frequently seen in patients with genetic congenital heart disease patients can be attributed to the genetic mutation that caused the congenital heart disease. These comorbidities are both cardiac and noncardiac and include: neurodevelopmental disability, pulmonary disease, heart failure, renal dysfunction, arrhythmia and an increased risk of malignancy. Identification of the genetic cause of congenital heart disease helps reduce patient morbidity and mortality by improving preventive and early intervention therapies to address these comorbidities. Through an understanding of the clinical implications of the genetic underpinning of congenital heart disease, clinicians can provide care tailored to an individual patient and continue to improve the outcomes of congenital heart disease patients.

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....

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

Sensorineural hearing loss associated with occupational noise exposure: effects of age-corrections.

Science.gov (United States)

Krishnamurti, Sridhar

2009-03-01

Noise-induced permanent threshold shifts (NIPTS) were computed from retrospective audiometric analyses by subtracting aging effects on hearing sensitivity in sixty-eight patients with bilateral sensorineural hearing loss who reported significant occupational noise exposure histories. There were significant effects of age on NIPTS but no significant gender- or ear- differences in terms of NIPTS. The NIPTS at 2,000 Hz was found to be significantly greater than NIPTS at frequencies 500 Hz, 1,000 Hz, 4,000 Hz, and 8,000 Hz. Defined noise notches were seen in the audiograms of 38/136 (27%) ears with SNHL. Results support models that suggest interactive effects of aging and noise on sensorineural hearing loss in ears with occupational noise exposure.

Patent abdominal subcutaneous veins caused by congenital absence of the inferior vena cava: a case report

Directory of Open Access Journals (Sweden)

Lipp Rainer W

2010-07-01

Full Text Available Abstract Introduction Patent paraumbilical and abdominal subcutaneous veins are found frequently as collaterals in patients due to portal hypertension mainly in liver cirrhosis. Case presentation For evaluation of portal hypertension in a 72-year-old Caucasian man without liver cirrhosis, magnetic resonance imaging with gadolinium contrast-enhancement was performed and demonstrated a missing inferior vena cava. A blood return from the lower extremities was shown through enlarged collateral veins of the abdominal wall, vena azygos and hemiazygos continuation, and multiple liver veins emptying into the right cardiac atrium. We describe a rare case of abdominal subcutaneous wall veins as collaterals caused by a congenitally absent infrarenal inferior vena cava with preservation of a hypoplastic suprarenal segment. Conclusion Knowledge of these congenital variations can be of clinical importance and it is imperative for the reporting radiologist to identify these anomalies as they can have a significant impact on the clinical management of the patient.

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.

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.)

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.)

Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome.

OpenAIRE

Cross, J. H.; Arora, R.; Heckemann, R. A.; Gunny, R.; Chong, K.; Carr, L.; Baldeweg, T.; Differ, A. M.; Lench, N.; Varadkar, S.; Sirimanna, T.; Wassmer, E.; Hulton, S. A.; Ognjanovic, M.; Ramesh, V.

2013-01-01

Recently, we reported a previously unrecognized symptom constellation comprising epilepsy, ataxia, sensorineural deafness, and tubulopathy (EAST syndrome) associated with recessive mutations in the KCNJ10 gene. Here, we provide a detailed characterization of the clinical features of the syndrome to aid patient management with respect to diagnosis, prognostic counselling, and identification of best treatment modalities.

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 ...

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.

Congenital cytomegalovirus infection

Directory of Open Access Journals (Sweden)

Katarina Rednak-Paradiž

2006-11-01

Full Text Available Background: CMV is the most common agent that causes congenital virus infection. Only 10 % of infected children have symptomatic infection immediately after birth. Signs of central nervous system damage, neurosensory deafness and delayed psychomotor development may manifest as a result of asimptomatic congenital infection later in childhood. In the article we present basic properties of CMV; we describe clinical picture of the congenital infection and possibilities of diagnose and its treatment. We present five children with symptomatic congenital CMV infection that were hospitalized for the period 1992–2002 at the Neonatal department in the University Children’s Hospital in Ljubljana.Conclusions: Identification of infected neonates, especially those with asimptomatic congenital CMV infection, is difficult. Latest incidence of infection in Slovenia is unknown. With new investigations the efficiency of antiviral therapy was discovered but exact indications for therapy are not yet known. CMV vaccine, once available, may ultimately be the best control strategy for this important public health problem. Proper educating women in childbearing age about the risks of CMV and how to avoid disease transmission during pregnancy (hand washing, avoiding mouth-to-mouth contact with preschool children, usage of gloves especially when handling dipers or respiratory secretions are the only control strategies available.

Sensorineural Hearing Loss Associated with Occupational Noise Exposure: Effects of Age-Corrections

Directory of Open Access Journals (Sweden)

2009-02-01

Full Text Available Noise-induced permanent threshold shifts (NIPTS were computed from retrospective audiometric analyses by subtracting aging effects on hearing sensitivity in sixty-eight patients with bilateral sensorineural hearing loss who reported significant occupational noise exposure histories. There were significant effects of age on NIPTS but no significant gender- or ear- differences in terms of NIPTS. The NIPTS at 2,000 Hz was found to be significantly greater than NIPTS at frequencies 500 Hz, 1,000 Hz, 4,000 Hz, and 8,000 Hz. Defined noise notches were seen in the audiograms of 38/136 (27% ears with SNHL. Results support models that suggest interactive effects of aging and noise on sensorineural hearing loss in ears with occupational noise exposure.

Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies

NARCIS (Netherlands)

Marttila, Minttu; Lehtokari, Vilma-Lotta; Marston, Steven; Nyman, Tuula A.; Barnerias, Christine; Beggs, Alan H.; Bertini, Enrico; Ceyhan-Birsoy, Ozge; Cintas, Pascal; Gerard, Marion; Gilbert-Dussardier, Brigitte; Hogue, Jacob S.; Longman, Cheryl; Eymard, Bruno; Frydman, Moshe; Kang, Peter B.; Klinge, Lars; Kolski, Hanna; Lochmüller, Hans; Magy, Laurent; Manel, Véronique; Mayer, Michèle; Mercuri, Eugenio; North, Kathryn N.; Peudenier-Robert, Sylviane; Pihko, Helena; Probst, Frank J.; Reisin, Ricardo; Stewart, Willie; Taratuto, Ana Lia; de Visser, Marianne; Wilichowski, Ekkehard; Winer, John; Nowak, Kristen; Laing, Nigel G.; Winder, Tom L.; Monnier, Nicole; Clarke, Nigel F.; Pelin, Katarina; Grönholm, Mikaela; Wallgren-Pettersson, Carina

2014-01-01

Mutations affecting skeletal muscle isoforms of the tropomyosin genes may cause nemaline myopathy, cap myopathy, core-rod myopathy, congenital fiber-type disproportion, distal arthrogryposes, and Escobar syndrome. We correlate the clinical picture of these diseases with novel (19) and previously

The Peculiarities of Observation of Preterm Babies with Very Low Birth Weight

Directory of Open Access Journals (Sweden)

S.V. Alifanova

2015-10-01

Full Text Available The article presents the results of follow-up of 59 preterm babies with very low birth weight during the first year of life. It was found that the most frequent causes of disability are cerebral palsy, retinopathy of prematurity, sensorineural deafness, congenital malformations. The main tasks and the algorithm of observation of these children in policlinic are described.

Speech recognition in individuals with sensorineural hearing loss

Directory of Open Access Journals (Sweden)

Adriana Neves de Andrade

Full Text Available ABSTRACT INTRODUCTION: Hearing loss can negatively influence the communication performance of individuals, who should be evaluated with suitable material and in situations of listening close to those found in everyday life. OBJECTIVE: To analyze and compare the performance of patients with mild-to-moderate sensorineural hearing loss in speech recognition tests carried out in silence and with noise, according to the variables ear (right and left and type of stimulus presentation. METHODS: The study included 19 right-handed individuals with mild-to-moderate symmetrical bilateral sensorineural hearing loss, submitted to the speech recognition test with words in different modalities and speech test with white noise and pictures. RESULTS: There was no significant difference between right and left ears in any of the tests. The mean number of correct responses in the speech recognition test with pictures, live voice, and recorded monosyllables was 97.1%, 85.9%, and 76.1%, respectively, whereas after the introduction of noise, the performance decreased to 72.6% accuracy. CONCLUSIONS: The best performances in the Speech Recognition Percentage Index were obtained using monosyllabic stimuli, represented by pictures presented in silence, with no significant differences between the right and left ears. After the introduction of competitive noise, there was a decrease in individuals' performance.

Waardenburg syndrome type 2: an orthodontic perspective.

Science.gov (United States)

Şuhani, Raluca Diana; Şuhani, Mihai Flaviu; Muntean, Alexandrina; Mesaroş, Michaela Florica; Badea, Mîndra Eugenia

2015-01-01

Waardenburg syndrome is a rare form of neurocristopathy. It is a disorder in the development of neural crest cells, caused by an altered cellular migration during the embryonic phase. That alteration causes an association of different abnormalities such as pigmentary disturbances of the hair, iris, skin, stria vascularis of the cochlea, dystopia canthorum and sensorineural hearing loss. We report a case of a 14-year-old Romanian male, with a family history of Waardenburg syndrome (mother) and Usher syndrome (father - congenitally sensorineural hearing loss and retinal degeneration). The case particularities are: the correlation between malocclusion and Waardenburg syndrome due to hypoplastic alae nasi and also factors that produced hearing loss, which could be Waardenburg syndrome, Usher syndrome or the presence of the connexin 26 (W24X) gene mutation.

Novel association of achalasia with hereditary sensory and motor neuropathy with sensorineural deafness.

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Asthana, A K; Lubel, J S; Kohn, G P

2016-08-01

Achalasia is a primary esophageal motility disorder. Unlike diffuse esophageal spasm, it has not previously been described in association with hereditary sensory and motor neuropathy (HSMN). An 18-year-old-male with HSMN with sensorineural deafness presented with a 2-day history of dysphagia to solids and liquids. Achalasia was diagnosed after extensive investigations, and his symptoms resolved with endoscopic and definitive surgical management. His monozygotic twin brother had also been diagnosed with HSMN and suffered from chronic dysphagia, which was also subsequently diagnosed with achalasia. This is the first case to illustrate an association between HSMN with sensorineural deafness and achalasia. © 2013 Wiley Periodicals, Inc. and the International Society for Diseases of the Esophagus.

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.

Acoustic reflex measurements and the loudness function in sensorineural hearing loss

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Sheila Uliel

1980-11-01

Full Text Available The suprathreshold acoustic reflex responses of forty two ears affected by sensorineural hearing loss of cochlear origin and fifty-eight ears demonstrating normal hearing, were recorded by means of an electro-acoustic impedance meter and attached X-Y recorder. The recordings were done in ascending and descending fashion,  at successively increasing and decreasing 5dB intensity levels from 90-120-90 dB HL respectively, for the individual pure-tone frequencies of 500, 1 000, 2 000 and 4 000 Hz. The contralateral mode of measurement was employed. Analysis of  these recordings indicated that the acoustic reflex  responses could be differentiated into five  characteristic patterns of  growth, which could be depicted upon a continuum of peaked, peaked-rounded, rounded, rounded-flat,  and flat  shapes. The peaked and peaked-rounded patterns were found  to predominate at all four pure-tone frequencies  in the normal ears, while the rounded-fiat  and flat  patterns were found  to predominate only at the higher pure-tone frequencies of 2 000 and 4 000 Hz in the ears affected  by sensorineural hearing loss. This latter relationship was also able to be applied to two disorders of  the loudness functio— loudness recruitment and hyperacusis. It was concluded that the flattened  acoustic reflex  patterns at the higher pure-tone frequencies  constituted a potential diagnostic cue related to the differential  diagnosis of sensorineural hearing loss, and to disorders of  the loudness function.

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 ...

Congenital and nosocomial sepsis in infants born in a regional perinatal unit: cause, outcome, and white blood cell response.

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Ohlsson, A; Vearncombe, M

1987-02-01

The incidence, cause, and outcome of sepsis and the white blood cell response were studied in 6315 infants born in a regional perinatal unit. The incidence of neonatal sepsis was 6.5 per 1000 live births. Congenital sepsis (12 cases) was overwhelming, with associated maternal infection (92%), neutropenia (75%), and high rate of mortality (50%). The most common organism was Escherichia coli (58%). Gestational age and birth weight were similar in survivors and nonsurvivors. There was a strong correlation between total white blood cell count and both mature and immature neutrophil counts in survivors but this correlation decreased substantially in neonates that died. Analysis of variance indicated that the means for polymorphonuclear leukocyte and immature neutrophil counts were significantly higher in survivors. Nosocomial sepsis (38 cases) occurred in premature low birth weight infants receiving invasive, intensive care. The most common organism was Staphylococcus epidermidis (76%). Total white blood cell, polymorphonuclear leukocyte, and immature neutrophil counts rose significantly in response to sepsis. None died. Prevention of congenital sepsis requires methods to detect early maternal-fetal infection. Providing granulocytes to neutropenic neonates with congenital sepsis might improve outcome.

CONGENITAL EYELID EVERSION - A CASE REPORT WITH REVIEW OF LITERATURE

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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

[HRCT imaging characterized of congenital abnormalities of the inner ear in 45 cases].

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Wang, Jinling; Meng, Meijuan; Huan, Yi; Zhang, Jinsong

2003-10-01

To explore the high resolution CT (HRCT) image characterized of congenital abnormalities of the inner ear(CAIE), and its value in the diagnosis and treatment of CAIE. The clinic data and axial HRCT scans of CAIE in 45 cases were analyzed. In 45 CAIE patients, most of them were frequently associated with slowly progressive sensorineural hearing loss in childhood, 15 ears were fluctuating hearing loss. Seventeen ears were unilateral semicircular canal paralysis. HRCT showed that Michel type 3 cases(4 ears), Mondini type 25 cases(39 ears). Large vestibular aqueduct malformation not associated with anomalies of inner ears 13 cases(23 ears), anomalies of internal auditory canal 4 cases (5 ears). Thirteen ears were associated with outer and middle ear malformation. HRCT image has the important value in the diagnosis and treatment of CAIE, especially for the excerpt of indication of cochlear implantation.

Congenital Corneal Anesthesia and Neurotrophic Keratitis: Diagnosis and Management

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Flavio Mantelli

2015-01-01

Full Text Available Neurotrophic keratitis (NK is a rare degenerative disease of the cornea caused by an impairment of corneal sensory innervation, characterized by decreased or absent corneal sensitivity resulting in epithelial keratopathy, ulceration, and perforation. The aetiopathogenesis of corneal sensory innervation impairment in children recognizes the same range of causes as adults, although they are much less frequent in the pediatric population. Some extremely rare congenital diseases could be considered in the aetiopathogenesis of NK in children. Congenital corneal anesthesia is an extremely rare condition that carries considerable diagnostic and therapeutic problems. Typically the onset is up to 3 years of age and the cornea may be affected in isolation or the sensory deficit may exist as a component of a congenital syndrome, or it may be associated with systemic somatic anomalies. Accurate diagnosis and recognition of risk factors is important for lessening long-term sequelae of this condition. Treatment should include frequent topical lubrication and bandage corneal or scleral contact lenses. Surgery may be needed in refractory cases. The purpose of this review is to summarize and update data available on congenital causes and treatment of corneal hypo/anesthesia and, in turn, on congenital NK.

Congenital cholesteatoma of the infratemporal fossa with congenital aural atresia and mastoiditis: a case report

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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.

Speech recognition in individuals with sensorineural hearing loss.

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de Andrade, Adriana Neves; Iorio, Maria Cecilia Martinelli; Gil, Daniela

2016-01-01

Hearing loss can negatively influence the communication performance of individuals, who should be evaluated with suitable material and in situations of listening close to those found in everyday life. To analyze and compare the performance of patients with mild-to-moderate sensorineural hearing loss in speech recognition tests carried out in silence and with noise, according to the variables ear (right and left) and type of stimulus presentation. The study included 19 right-handed individuals with mild-to-moderate symmetrical bilateral sensorineural hearing loss, submitted to the speech recognition test with words in different modalities and speech test with white noise and pictures. There was no significant difference between right and left ears in any of the tests. The mean number of correct responses in the speech recognition test with pictures, live voice, and recorded monosyllables was 97.1%, 85.9%, and 76.1%, respectively, whereas after the introduction of noise, the performance decreased to 72.6% accuracy. The best performances in the Speech Recognition Percentage Index were obtained using monosyllabic stimuli, represented by pictures presented in silence, with no significant differences between the right and left ears. After the introduction of competitive noise, there was a decrease in individuals' performance. Copyright © 2015 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. Published by Elsevier Editora Ltda. All rights reserved.

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.

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: ...

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

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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.

Ampleness of head movements of children and adolescents with sensorineural hearing loss.

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de Souza Melo, Renato

2017-02-01

Head movements are controlled by the vestibular system. Children with sensorineural hearing loss can present restrictions in ampleness of head movements due to damage in the vestibule-cochlear systems, resulting from injury in the inner ear. To evaluate the ampleness of head movements of children with normal hearing and children with sensorineural hearing loss and compare data between groups. Cross-sectional study that evaluated the ampleness of head movements of 96 students, being 48 with normal hearing and 48 with sensorineural hearing loss, of both sexes, with aged between 7 and 18 years old. The performance of ampleness of head movements was analyzed by a manual goniometric evaluation, according the references proposed by Marques. To the statistical analysis we used the t-Student test in case of normality of the data or the Mann-Whitney test when did not applied the suppositions of normality. Hearing loss children showed less mean in ampleness of all movements of head compared to normal hearing children, pointing difference to movements of flexion (p = 0,001), lateral inclination to the right (p = 0,025) and lateral rotation to the left (p = 0,021). Hearing loss children showed reduction in the ampleness of these head movements: flexion, lateral inclination to the right and lateral rotation to the left compared to normal hearing children. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

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

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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.

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.)

Congenital and perinatal cytomegalovirus infection

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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.

Congenital pelvic arteriovenous malformation: uncommon symptoms of lower limb venous hypertension.

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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.

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

Congenital asymmetric crying face: a case report

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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.

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

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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.

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)

Beneficios económicos del implante coclear para la hipoacusia sensorineural profunda Economic benefits of the cochlear implant for treating profound sensorineural hearing loss

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Augusto Peñaranda

2012-04-01

Full Text Available OBJETIVO: Evaluar el costo-beneficio (CB, costo-utilidad (CU y costo-efectividad (CE de la implantación coclear, comparándola con el uso de audífonos en niños con hipoacusia sensorineural profunda bilateral. MÉTODOS: Se empleó la técnica no paramétrica Propensity Score Matching (PSM para realizar la evaluación de impacto económico del implante y así llevar a cabo los análisis CB, CU y CE. Se utilizó información primaria, tomada aleatoriamente a 100 pacientes: 62 intervenidos quirúrgicamente con el implante coclear (grupo de tratamiento y 38 pertenecientes al grupo de control o usuarios de audífono para tratar la hipoacusia sensorineural profunda. RESULTADOS: Se halló un diferencial de costos económicos -en beneficio del implante coclear- cercano a US$ 204 000 entre el implante y el uso de audífonos durante la esperanza de vida de los pacientes analizados. Dicha cifra indica los mayores gastos que deben cubrir los pacientes con audífono. Con este valor descontado, el indicador costo-beneficio señala que por cada dólar invertido en el implante coclear, para tratar al paciente, el retorno de la inversión es US$ 2,07. CONCLUSIONES: El implante coclear genera beneficios económicos para el paciente. También produce utilidades en salud dado que se encontró una relación positiva de CU (ganancia en decibeles y CE (ganancia en discriminación del lenguaje.OBJECTIVE: Evaluate the cost-benefit, cost-utility, and cost-effectiveness of cochlear implantation, comparing it to the use of hearing aids in children with profound bilateral sensorineural hearing loss. METHODS: The nonparametric propensity score matching method was used to carry out an economic and impact assessment of the cochlear implant and then perform cost-benefit, cost-utility, and cost-effectiveness analyses. Primary information was used, taken randomly from 100 patients: 62 who received cochlear implants (treatment group and 38 belonging to the control group who used

Mitochondrial Sensorineural Hearing Loss: A Retrospective Study and a Description of Cochlear Implantation in a MELAS Patient

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Mauro Scarpelli

2012-01-01

Full Text Available Hearing impairment is common in patients with mitochondrial disorders, affecting over half of all cases at some time in the course of the disease. In some patients, deafness is only part of a multisystem disorder. By contrast, there are also a number of “pure” mitochondrial deafness disorders, the most common probably being maternally inherited. We retrospectively analyzed the last 60 genetically confirmed mitochondrial disorders diagnosed in our Department: 28 had bilateral sensorineural hearing loss, whereas 32 didn't present ear's abnormalities, without difference about sex and age of onset between each single group of diseases. We reported also a case of MELAS patient with sensorineural hearing loss, in which cochlear implantation greatly contributed to the patient's quality of life. Our study suggests that sensorineural hearing loss is an important feature in mitochondrial disorders and indicated that cochlear implantation can be recommended for patients with MELAS syndrome and others mitochondrial disorders.

Congenital Cytomegalovirus Infection After Recurrent Maternal Infection: Report of a Case

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Özgür Olukman

2005-06-01

Full Text Available Cytomegalovirus (CMV is a double- stranded DNA virus in the Herpesvirus family, and it is a common cause of congenital viral infections. Congenital CMV infection is transmitted from the mother with viremia to the fetus via the placenta. Disease may result from a primary or recurrent maternal infection but the former is a common cause of severe disease. The risk for fetal infection is grater in primary maternal infection. We report a newborn infant with symptomatic congenital CMV infection associated with\trecurrent maternal infection.

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

[Diagnostic significance of multi-slice computed tomography imaging in congenital inner ear malformations].

Science.gov (United States)

Ma, Hui; Han, Ping; Liang, Bo; Liu, Fang; Tian, Zhi-Liang; Lei, Zi-Qiao; Li, You-Lin; Kong, Wei-Jia

2005-04-01

To evaluate the feasibility and usability of multi-slice computed tomography (MSCT) in congenital inner ear malformations. Fourty-four patients with sensorineural hearing loss (SNHL) were examined by a Somatom Sensation 16 (siemens, Germany) CT scanner with following parameters: 120 kV, 100 mAs, 0.75 mm collimation, 1 mm reconstruction increment, a pitch factor of 1 and a field of view of 100 mm. The axial images of interested ears were reconstructed with 0.1 mm reconstruction increment, and a field of view of 50 mm. The 3D reconstructions were done with volume rendering technique (VRT) on the workstation (3D Virtuoso and Wizard,siemens). Twenty-five patients were normal and 19 patients (36 ears) were congenital inner ear malformations among 44 patients scanned with MSCT. Of the malformations, all the axial, MPR and VRT images can display the site and degree in 33 ears. VRT images were superior to the axial images in displaying the malformations in 3 ears with the small lateral semicircular canal malformations. The 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), vestibular aqueduct dilate( 16 ears, of which 6 ears accompanied by other malformations), the internal auditory canal malformation(8 ears, all accompanied by other malformations). MSCT allows a comprehensively assessing various congenital ear malformations through high quality MPR and VRT reconstructions. VRT images can display the site and degree of the malformations three-dimensionally and intuitionisticly. It is very useful to the cochlear implantation.

Congenital ossicular chain malformations with mobile stapes in children: Results in 17 cases.

Science.gov (United States)

Vincent, Robert; Wegner, Inge; Derks, Laura S M; Grolman, Wilko

2016-03-01

To prospectively evaluate surgical findings and hearing results in children undergoing surgery for congenital malformations of the ossicular chain with a mobile stapes footplate (Teunissen and Cremers class III malformations). A nonrandomized, nonblinded, prospective case series. Fifteen consecutive pediatric patients who underwent 17 surgical procedures for congenital ossicular malformations with a mobile stapes at a tertiary referral center were included. In 16 cases, postoperative pure-tone audiometry was available. The surgical technique for repair of the ossicular chain was dictated by the surgical findings at the time of surgery. The majority of the cases underwent ossiculoplasty. A Teflon piston, partial ossicular replacement prosthesis, or total ossicular replacement prosthesis was used in these cases. Associated surgical techniques included malleus relocation, Silastic banding, drilling out of a bony bridge, and a combination of these techniques. Hearing loss was evaluated using preoperative and postoperative four-frequency (0.5, 1, 2, and 4 kHz) audiometry. Air-conduction thresholds, bone-conduction thresholds, and air-bone gaps were measured. Postoperative audiometry was performed at 3, 6, 9, 12, 18, and 24 months after surgery and at a yearly interval thereafter. Overall, a postoperative air-bone gap closure to 10 dB or less was achieved in 63% of the included cases. A postoperative air-bone gap closure to 20 dB or less was achieved in 75%. Postoperative sensorineural hearing loss did not occur in any of the cases. Ossicular reconstruction is a feasible treatment option in children with congenital malformations of the ossicular chain with a mobile stapes footplate. 4. Laryngoscope, 126:682-688, 2016. © 2015 The American Laryngological, Rhinological and Otological Society, Inc.

Heterogeneity in Phenotype of Usher-Congenital Hyperinsulinism Syndrome

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Al Mutair, Angham N.; Brusgaard, Klaus; Bin-Abbas, Bassam; Hussain, Khalid; Felimban, Naila; Al Shaikh, Adnan; Christesen, Henrik T.

2013-01-01

OBJECTIVE To evaluate the phenotype of 15 children with congenital hyperinsulinism (CHI) and profound hearing loss, known as Homozygous 11p15-p14 Deletion syndrome (MIM #606528). RESEARCH DESIGN AND METHODS Prospective clinical follow-up and genetic analysis by direct sequencing, multiplex ligation-dependent probe amplification, and microsatellite markers. RESULTS Genetic testing identified the previous described homozygous deletion in 11p15, USH1C:c.(90+592)_ABCC8:c.(2694–528)del. Fourteen patients had severe CHI demanding near-total pancreatectomy. In one patient with mild, transient neonatal hypoglycemia and nonautoimmune diabetes at age 11 years, no additional mutations were found in HNF1A, HNF4A, GCK, INS, and INSR. Retinitis pigmentosa was found in two patients aged 9 and 13 years. No patients had enteropathy or renal tubular defects. Neuromotor development ranged from normal to severe delay with epilepsy. CONCLUSIONS The phenotype of Homozygous 11p15-p14 Deletion syndrome, or Usher-CHI syndrome, includes any severity of neonatal-onset CHI and severe, sensorineural hearing loss. Retinitis pigmentosa and nonautoimmune diabetes may occur in adolescence. PMID:23150283

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

Congenital imprinting disorders

DEFF Research Database (Denmark)

Eggermann, Thomas; Netchine, Irène; Temple, I Karen

2015-01-01

Imprinting disorders (IDs) are a group of eight rare but probably underdiagnosed congenital diseases affecting growth, development and metabolism. They are caused by similar molecular changes affecting regulation, dosage or the genomic sequence of imprinted genes. Each ID is characterised...... by specific clinical features, and, as each appeared to be associated with specific imprinting defects, they have been widely regarded as separate entities. However, they share clinical characteristics and can show overlapping molecular alterations. Nevertheless, IDs are usually studied separately despite...... EUCID.net (European network of congenital imprinting disorders) now aims to promote better clinical care and scientific investigation of imprinting disorders by establishing a concerted multidisciplinary alliance of clinicians, researchers, patients and families. By encompassing all IDs and establishing...

Polymicrogyria and Congenital Parvovirus B19 Infection

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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.

Sudden Sensorineural Hearing Loss; Prognostic Factors

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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.

The significance of a hypoplastic bony canal for the cochlear nerve in patients with sensorineural hearing loss: CT and MRI findings

International Nuclear Information System (INIS)

Choi, Yoon Jung; Park, Sang Yoo; Kim, Myung Soon; Sung, Ki Jun

2004-01-01

The purpose of this study is to evaluate the significance of the hypoplastic canal for the cochlear nerve in patients with sensorineural hearing loss (SNHL) and the relationship between the hypoplastic bony canal and aplasia or hypoplasia of the cochlear nerve. A retrospective review of high resolution temporal CT(HRCT) and MRI findings was conducted. The narrow bony canal of the cochlear nerve and the relative size of the internal auditory canal were correlated with the cochlear nerve deficiency on MRI. The comparative size of the component nerves (facial, cochlear, superior vestibular, inferior vestibular nerve), and the relative size of the internal auditory canal and the bony canal of the cochlear nerve were measured. The clinical history and the results of the clinical examination were reviewed for each patient. High resolution MRI showed aplasia of the common vestibulocochlear nerve in one patient and a deficiency of the cochlear nerve in 9 patients. These abnormalities occurred in association with a prominent narrowing of the canal for the cochlear nerve and a stenosis of the internal auditory canal, which was observed on temporal bone CT in 9 patients with congenital SNHL. Three patients had normal IAC, despite the presence of a hypoplastic cochlear nerve on the side on which they had SNHL. In one patient, the narrowing of the canal for the cochlear nerve and internal auditory canal were not found to be associated with acquired SNHL. The hypoplastic bony canal for the cochlear nerve might be more highly indicative of congenital cochlear nerve deficiency than that of the narrow internal auditory canal, and the position of the crista falciformis should also be carefully

The significance of a hypoplastic bony canal for the cochlear nerve in patients with sensorineural hearing loss: CT and MRI findings

Energy Technology Data Exchange (ETDEWEB)

Choi, Yoon Jung; Park, Sang Yoo; Kim, Myung Soon; Sung, Ki Jun [College of Medicine, Yonsei Univ., Wonju (Korea, Republic of)

2004-04-01

The purpose of this study is to evaluate the significance of the hypoplastic canal for the cochlear nerve in patients with sensorineural hearing loss (SNHL) and the relationship between the hypoplastic bony canal and aplasia or hypoplasia of the cochlear nerve. A retrospective review of high resolution temporal CT(HRCT) and MRI findings was conducted. The narrow bony canal of the cochlear nerve and the relative size of the internal auditory canal were correlated with the cochlear nerve deficiency on MRI. The comparative size of the component nerves (facial, cochlear, superior vestibular, inferior vestibular nerve), and the relative size of the internal auditory canal and the bony canal of the cochlear nerve were measured. The clinical history and the results of the clinical examination were reviewed for each patient. High resolution MRI showed aplasia of the common vestibulocochlear nerve in one patient and a deficiency of the cochlear nerve in 9 patients. These abnormalities occurred in association with a prominent narrowing of the canal for the cochlear nerve and a stenosis of the internal auditory canal, which was observed on temporal bone CT in 9 patients with congenital SNHL. Three patients had normal IAC, despite the presence of a hypoplastic cochlear nerve on the side on which they had SNHL. In one patient, the narrowing of the canal for the cochlear nerve and internal auditory canal were not found to be associated with acquired SNHL. The hypoplastic bony canal for the cochlear nerve might be more highly indicative of congenital cochlear nerve deficiency than that of the narrow internal auditory canal, and the position of the crista falciformis should also be carefully.

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

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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.

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...

Mutation analysis of SLC26A4 for Pendred syndrome and nonsyndromic hearing loss by high-resolution melting

DEFF Research Database (Denmark)

Chen, Neng; Tranebjærg, Lisbeth; Rendtorff, Nanna Dahl

2011-01-01

Pendred syndrome and DFNB4 (autosomal recessive nonsyndromic congenital deafness, locus 4) are associated with autosomal recessive congenital sensorineural hearing loss and mutations in the SLC26A4 gene. Extensive allelic heterogeneity, however, necessitates analysis of all exons and splice sites...

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.......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...

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

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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.

Systemic Steroid Application Caused Sudden Death of a Patient with Sudden Deafness

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Eriko Ogino-Nishimura

2013-01-01

Full Text Available A 63-year-old man, who was diagnosed with sudden sensorineural hearing loss (SSHL, showed severe hypertension 10 hours after prednisolone administration. Subsequently, the patient suddenly died due to pulmonary edema. The autopsy indicated a pheochromocytoma in the right adrenal gland, and the cause of death was determined to be a pheochromocytoma crisis induced by systemic administration of prednisolone. Pheochromocytoma crisis is a life-threatening condition and can result from the use of corticosteroids. Physicians should consider the risk of a pheochromocytoma crisis due to systemic corticosteroids in the treatment of patients with sudden sensorineural hearing loss.

Epidemiological and clinical aspects of ear nose and throat sensorineural emergencies in the Yaoundé reference hospital.

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Djomou, François; Nkouo, Yves Christian Andjock; Mindja, Eko David; Nchinda, Choffor; Meka, Luc; Mbamyah-Lyonga, Emilia; Ndjolo, Alexis

2016-01-01

Sensorineural emergencies (SNE) are rare clinical situations. Few patients consult early explaining subsequent difficulty in having accurate data and management. Three clinical conditions are considered SNE in otolaryngology; they include sudden sensorineural hearing loss (SSHL), Bell's palsy and acute vertigo. There is very little data available on sensorineural emergencies in our setting. The aim of this study was to provide preliminary data on the management of Ear Nose and Throat (ENT) sensorineural emergency cases in Yaoundé Reference Hospital. A descriptive retrospective study was carried out based on data collected over a period of 5 years, January 2010 to July 2014 at the Yaoundé Reference Hospital. Information was obtained from patients' files collected from the archives of the institution. Patients presenting with SSHL, Bell's palsy, acute vertigo who consulted during the study period were included in the study. A total of 22 patients were included in the study out of 6406 patients who consulted at the ENT Unit. The prevalence of SNE in ENT consultations was 0.003, distributed as follows; 13 patients (59.1%) of SNE had Bell's palsy, seven (31.8%) had vestibular neuritis and two (9.1%) had SSHL. The prevalence of SNE was low with idiopathic Bell's palsy being the most frequent. There was a general delay in arrival of patients hence delay in diagnosis. This delay could equally be a factor for treatment failure and poor prognosis. More effort should be made in terms of population sensitization about the necessity of getting early medical attention.

Public health and laboratory considerations regarding newborn screening for congenital cytomegalovirus.

Science.gov (United States)

Dollard, Sheila C; Schleiss, Mark R; Grosse, Scott D

2010-10-01

Congenital cytomegalovirus (CMV) infection is the most common infection in newborns worldwide and causes hearing loss and other neurological disability in 15-20% of infected infants. Only about half of the hearing loss resulting from congenital CMV infection is currently detected by universal newborn hearing screening because of late-onset hearing loss. Thus, much of the hearing loss and the majority of other CMV-associated disabilities remain undetected for years after birth and are never connected to CMV infection. Congenital CMV may be appropriate to include in national newborn screening (NBS) programs because it is more common than other disorders tested for by NBS programs and is a major cause of disability. Significant obstacles to the implementation of screening for congenital CMV include the lack of a standardized, high-throughput screening test and a protocol for follow-up of CMV-infected children. Nonetheless, screening newborns for congenital CMV infection merits further consideration.

Cleft palate caused by congenital teratoma.

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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.

[Congenital skull base defect causing recurrent bacterial meningitis].

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Berliner, Elihay; Bar Meir, Maskit; Megged, Orli

2012-08-01

Bacterial meningitis is a life threatening disease. Most patients will experience only one episode throughout life. Children who experience bacterial meningitis more than once, require further immunologic or anatomic evaluation. We report a 9 year old child with five episodes of bacterial meningitis due to a congenital defect of the skull base. A two and a half year old boy first presented to our medical center with pneumococcal meningitis. He was treated with antibiotics and fully recovered. Two months later he presented again with a similar clinical picture. Streptococcus pneumoniae grew in cerebrospinal fluid (CSF) culture. CT scan and later MRI of the brain revealed a defect in the anterior middle fossa floor, with protrusion of brain tissue into the sphenoidal sinus. Corrective surgery was recommended but the parents refused. Three months later, a third episode of pneumococcal meningitis occurred. The child again recovered with antibiotics and this time corrective surgery was performed. Five years later, the boy presented once again with clinical signs and symptoms consistent with bacterial meningitis. CSF culture was positive, but the final identification of the bacteria was conducted by broad spectrum 16S ribosomal RNA PCR (16S rRNA PCR) which revealed a sequence of Neisseria lactamica. CT and MRI showed recurrence of the skull base defect with encephalocele in the sphenoid sinus. The parents again refused neurosurgical intervention. A year later the patient presented with bacterial meningitis. CSF culture obtained after initiation of antibiotics was negative, but actinobacillus was identified in the CSF by 16S rRNA PCR. The patient is scheduled for neurosurgical intervention. In patients with recurrent bacterial meningitis caused by organisms colonizing the oropharynx or nasopharynx, an anatomical defect should be carefully sought and surgically repaired.

Clinical and audiologic characteristics of patients with sensorineural tinnitus and its association with psychological aspects: an analytic retrospective study.

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Al-Swiahb, Jamil Nasser; Hwang, Eul Seung; Kong, Ji Sun; Kim, Woo Jin; Yeo, Sang Won; Park, Shi Nae

2016-12-01

This study was performed to analyze clinical and audiologic characteristics of sensorineural tinnitus and to investigate the associating factors reflecting psychological aspects of stress and depression of the patients. This is a retrospective analytical study conducted in a tinnitus clinic of a tertiary referral center of a university hospital. The medical records of 216 patients suffering from sensorineural tinnitus were thoroughly evaluated to determine correlations between clinical and audiological characteristics, including age, sex, predisposing or etiologic factors, hearing levels up to extended high frequencies, and tinnitus severity. Psychological aspects of stress and depression were also evaluated and analyzed to seek the associations with tinnitus severity. All data were stored in our database bank and were statistically analyzed. Our study subjects showed a slight male predominance. The highest percentage of tinnitus was found in patients of 60-80 years old. Only 32.5 % of tinnitus patients were subjectively aware of their hearing loss, whereas 73 % of subjects had hearing deficits in some frequencies in their audiogram. Hearing impairments were of the low-frequency sensorineural type in 18.2 % of patients and were limited to the high frequencies in 77.9 % of patients. Tinnitus was unilateral in 51 % of patients and had a tonal nature in 45 % of patients. In total, 45.8 % of patients with high-frequency sensorineural hearing loss had high-pitched tinnitus. There were significant correlations between tinnitus severity, loudness and annoyance. Correlations with THI (Tinnitus Handicap Inventory) and Beck depression index scores were also found. Sensorineural tinnitus was related with hearing loss in some frequencies nevertheless of patients' own awareness of hearing loss. Loudness and annoyance of tinnitus seems to be two important factors reflecting psychological problems of patients' stress and depression.

Congenital Heart Defects (For Parents)

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... to be associated with genetic disorders, such as Down syndrome . But the cause of most congenital heart defects isn't known. While they can't be prevented, many treatments are available for the defects and related health ...

Psycholinguistic abilities in cochlear implant and hearing impaired children

OpenAIRE

Hassan, Hatem Ezzeldin; Eldin, Sally Taher Kheir; Al Kasaby, Rasha Mohamed

2014-01-01

Background: Many congenitally sensorineural hearing loss (SNHL) children and cochlear implant (CI) recipients develop near-normal language skills. However, there is a wide variation in individual outcomes following cochlear implantation, or using hearing aids. Some CI recipients or Hearing aids users never develop useable speech and oral language skills. The causes of this enormous variation in outcomes are only partly understood at the present time. So, the aim of this study was to assess th...

Four novel ELANE mutations in patients with congenital neutropenia.

Science.gov (United States)

Kurnikova, Maria; Maschan, Michael; Dinova, Evgeniya; Shagina, Irina; Finogenova, Natalia; Mamedova, Elena; Polovtseva, Tatyana; Shagin, Dmitry; Shcherbina, Anna

2011-08-01

Congenital neutropenia is a heterogeneous bone marrow failure syndrome characterized by a maturation arrest of myelopoesis at the promyelocyte/myelocyte stage. Cyclic neutropenia (CyN) and severe congenital neutropenia (SCN) are two main forms of congenital neutropenia. Genetic analysis has shown that heterozygous mutations in the ELANE gene encoding the neutrophil elastase are the major cause of these disorders. We investigated the prevalence of ELANE mutations in a group of 16 patients from 14 families with congenital neutropenia. Five patients had typical manifestations of CyN, and 11 patients had SCN. Seven different heterozygous ELANE mutations were found, including four novel mutations. Copyright © 2011 Wiley-Liss, Inc.

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.

Magnetic resonance imaging in congenital superior oblique palsy

International Nuclear Information System (INIS)

Sato, Miho; Kondo, Nagako; Awaya, Shinobu; Nomura, Hideki; Yagasaki, Teiji.

1996-01-01

MRI examinations were carried out on the defined congenital superior oblique palsy in order to distinguish the congenital and acquired palsies. Subjects were 19 patients diagnosed as congenital and their MRI images of 3 or 5 mm-thick coronary slice were taken. The volume of the oblique muscle was calculated from the images and a comparison was made between the diseased and healthy normal sides. The oblique muscle volume at the diseased side was found reduced in most of congenital superior oblique palsy patients. The reduction was observed even at childhood and was thus considered to be a malformation. Further, it is conceivable that the palsy could be caused by the abnormality in the central nervous system as well as by the present anatomical abnormality. (K.H.)

The oldest record of aquatic amniote congenital scoliosis.

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Tomasz Szczygielski

Full Text Available We report the first occurrence of congenital scoliosis in an early Permian aquatic parareptile, Stereosternum tumidum from Paraná state, Brazil. The spine malformation is caused by a congenital hemivertebra. These observations give insight into the biomechanical aspects of underwater locomotion in an axial skeleton-compromised aquatic amniote. This is the oldest record of a hemivertebra in an aquatic animal.

Static and dynamic balance of children and adolescents with sensorineural hearing loss.

Science.gov (United States)

Melo, Renato de Souza; Marinho, Sônia Elvira Dos Santos; Freire, Maryelly Evelly Araújo; Souza, Robson Arruda; Damasceno, Hélio Anderson Melo; Raposo, Maria Cristina Falcão

2017-01-01

To assess the static and dynamic balance performance of students with normal hearing and with sensorineural hearing loss. A cross-sectional study assessing 96 students, 48 with normal hearing and 48 with sensorineural hearing loss of both sexes, aged 7 and 18 years. To evaluate static balance, Romberg, Romberg-Barré and Fournier tests were used; and for the dynamic balance, we applied the Unterberger test. Hearing loss students showed more changes in static and dynamic balance as compared to normal hearing, in all tests used (pRomberg, Romberg-Barré, Fournier and Unterberger test p values were, respectively, p=0.004, pRomberg, Romberg-Barré and Fournier tests were, respectively, p=0.007, pRomberg, Romberg-Barré, Fournier and Unterberger tests were p=0.002, pRomberg-Barré, Fournier and Unterberger tests were, respectively, p=0.037, p<0.001 and p=0.037. Hearing-loss students showed more changes in static and dynamic balance comparing to normal hearing of same sex and age groups.

Sensori-neural hearing loss in patients treated with irradiation for nasopharyngeal carcinoma

International Nuclear Information System (INIS)

Grau, C.; Moller, K.; Overgaard, M.; Overgaard, J.; Elbrond, O.

1991-01-01

The present investigation has been carried out to evaluate the sensitivity of the inner ear to irradiation. Cochlear function was tested in a cohort of 22 patients before and 7-84 months after receiving external irradiation for nasopharyngeal carcinoma. The pre-irradiation sensori-neural hearing threshold at 500, 1000, 2000, and 4000 Hz was used as a baseline for the individual patient, and the observed sensori-neural hearing loss (SNHL) was calculated as the difference between pre- and post-irradiation values. The pre-irradiation hearing level or patient age was not correlated with the actual SNHL. In contrast, there was a significant correlation between the total radiation dose to the inner ear and the observed hearing impairment. SNHL was most pronounced in the high frequencies, with values up to 35 dB (4000 Hz) and 25 dB (2000 Hz) in some patients. The latent period for the complication appeared to be 12 months or more. The deleterious effect of irradiation on the hearing should be kept in mind both in treatment planning and in the follow-up after radiotherapy

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.

Disacusia neurossensorial imunomediada Immunomediated sensorineural hearing loss

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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

Prosthetic management of congenital anophthalmia-microphthalmia patient

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Himanshi Aggarwal

2015-01-01

Full Text Available Congenital anophthalmia and microphthalmia are rare developmental defects of the globe that cause deficient orbitofacial growth and impaired visual capability. Anophthalmia whether congenital or acquired is not just a question of cosmesis. It has many ramifications such as monocular status, loss of facial esthetics and psychological challenges for a growing child. The management of such a patient requires the coordinated involvement of a multidisciplinary team of health care professionals, including pediatrician, pediatric ophthalmologist, geneticist, genetic counselor, oculoplasty surgeon, and prosthetist. This article focuses on the rehabilitation of an adult female patient with congenital anophthalmia who was successfully treated with progressive expansion therapy with custom conformer followed by custom ocular prosthesis.

Randomised, double-blinded, placebo-controlled, clinical trial of ozone therapy as treatment of sudden sensorineural hearing loss.

Science.gov (United States)

Ragab, A; Shreef, E; Behiry, E; Zalat, S; Noaman, M

2009-01-01

To investigate the safety and efficacy of ozone therapy in adult patients with sudden sensorineural hearing loss. Prospective, randomised, double-blinded, placebo-controlled, parallel group, clinical trial. Forty-five adult patients presented with sudden sensorineural hearing loss, and were randomly allocated to receive either placebo (15 patients) or ozone therapy (auto-haemotherapy; 30 patients). For the latter treatment, 100 ml of the patient's blood was treated immediately with a 1:1 volume, gaseous mixture of oxygen and ozone (from an ozone generator) and re-injected into the patient by intravenous infusion. Treatments were administered twice weekly for 10 sessions. The following data were recorded: pre- and post-treatment mean hearing gains; air and bone pure tone averages; speech reception thresholds; speech discrimination scores; and subjective recovery rates. Significant recovery was observed in 23 patients (77 per cent) receiving ozone treatment, compared with six (40 per cent) patients receiving placebo (p < 0.05). Mean hearing gains, pure tone averages, speech reception thresholds and subjective recovery rates were significantly better in ozone-treated patients compared with placebo-treated patients (p < 0.05). Ozone therapy is a significant modality for treatment of sudden sensorineural hearing loss; no complications were observed.

Sudden Sensorineural Hearing Loss and Polymorphisms in Iron Homeostasis Genes: New Insights from a Case-Control Study

Directory of Open Access Journals (Sweden)

Alessandro Castiglione

2015-01-01

Full Text Available Background. Even if various pathophysiological events have been proposed as explanations, the putative cause of sudden hearing loss remains unclear. Objectives. To investigate and to reveal associations (if any between the main iron-related gene variants and idiopathic sudden sensorineural hearing loss. Study Design. Case-control study. Materials and Methods. A total of 200 sudden sensorineural hearing loss patients (median age 63.65 years; range 10–92 were compared with 400 healthy control subjects. The following genetic variants were investigated: the polymorphism c.−8CG in the promoter of the ferroportin gene (FPN1; SLC40A1, the two isoforms C1 and C2 (p.P570S of the transferrin protein (TF, the amino acidic substitutions p.H63D and p.C282Y in the hereditary hemochromatosis protein (HFE, and the polymorphism c.–582AG in the promoter of the HEPC gene, which encodes the protein hepcidin (HAMP. Results. The homozygous genotype c.−8GG of the SLC40A1 gene revealed an OR for ISSNHL risk of 4.27 (CI 95%, 2.65–6.89; P=0.001, being overrepresented among cases. Conclusions. Our study indicates that the homozygous genotype FPN1 −8GG was significantly associated with increased risk of developing sudden hearing loss. These findings suggest new research should be conducted in the field of iron homeostasis in the inner ear.

Angle closure glaucoma in congenital ectropion uvea

Directory of Open Access Journals (Sweden)

Grace M. Wang

2018-06-01

Full Text Available Purpose: Congenital ectropion uvea is a rare anomaly, which is associated with open, but dysplastic iridocorneal angles that cause childhood glaucoma. Herein, we present 3 cases of angle-closure glaucoma in children with congenital ectropion uvea. Observations: Three children were initially diagnosed with unilateral glaucoma secondary to congenital ectropion uvea at 7, 8 and 13 years of age. The three cases showed 360° of ectropion uvea and iris stromal atrophy in the affected eye. In one case, we have photographic documentation of progression to complete angle closure, which necessitated placement of a glaucoma drainage device 3 years after combined trabeculotomy and trabeculectomy. The 2 other cases, which presented as complete angle closure, also underwent glaucoma drainage device implantation. All three cases had early glaucoma drainage device encapsulation (within 4 months and required additional surgery (cycloablation or trabeculectomy. Conclusions and importance: Congenital ectropion uvea can be associated with angle-closure glaucoma, and placement of glaucoma drainage devices in all 3 of our cases showed early failure due to plate encapsulation. Glaucoma in congenital ectropion uvea requires attention to angle configuration and often requires multiple surgeries to obtain intraocular pressure control. Keywords: Congenital ectropion uvea, Juvenile glaucoma, Angle-closure glaucoma, Glaucoma drainage device

The role of bone conduction hearing aids in congenital unilateral hearing loss: A systematic review.

Science.gov (United States)

Liu, C Carrie; Livingstone, Devon; Yunker, Warren K

2017-03-01

To systematically review the literature on the audiological and/or quality of life benefits of a bone conduction hearing aid (BCHA) in children with congenital unilateral conductive or sensorineural deafness. A systematic search was performed according to the PRISMA guidelines using the PubMed, Medline, and Embase databases. Data were collected on the following outcomes of interest: speech reception threshold, speech discrimination, sound localization, and quality of life measures. Given the heterogeneity of the data for quantitative analysis, the results are qualitatively summarized. Eight studies were included in the review. Four studies examined the audiological outcomes associated with bone conduction hearing aid implantation. There was a consistent gain in speech reception thresholds and speech discrimination, especially in noisy environments. Results pertaining to sound localization was inconsistent. The studies that examined quality of life measures reported a high usage rate of BCHAs among children. Quality of life improvements are reported with suggested benefit in the subdomain of learning. Given the potential benefits of a BCHA, along with the fact that it can be safely trialed using a headband, it is reasonable to trial a BCHA in children with congenital unilateral deafness. Should the trial offer audiological and/or quality of life benefits for the individual child, then BCHA implantation can be considered. Copyright © 2017 Elsevier B.V. All rights reserved.

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...

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.

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…

Congenital Malformations in River Buffalo (Bubalus bubalis)

Science.gov (United States)

Albarella, Sara; Ciotola, Francesca; D’Anza, Emanuele; Coletta, Angelo; Zicarelli, Luigi; Peretti, Vincenzo

2017-01-01

Simple Summary Congenital malformations (due to genetic causes) represent a hidden danger for animal production, above all when genetic selection is undertaken for production improvements. These malformations are responsible for economic losses either because they reduce the productivity of the farm, or because their spread in the population would decrease the total productivity of that species/breed. River buffalo is a species of increasing interest all over the world for its production abilities, as proved by the buffalo genome project and the genetic selection plans that are currently performed in different countries. The aim of this review is to provide a general view of different models of congenital malformations in buffalo and their world distribution. This would be useful either for those who performed buffalo genetic selection or for researchers in genetic diseases, which would be an advantage to their studies with respect to the knowledge of gene mutations and interactions in this species. Abstract The world buffalo population is about 168 million, and it is still growing, in India, China, Brazil, and Italy. In these countries, buffalo genetic breeding programs have been performed for many decades. The occurrence of congenital malformations has caused a slowing of the genetic progress and economic loss for the breeders, due to the death of animals, or damage to their reproductive ability or failing of milk production. Moreover, they cause animal welfare reduction because they can imply foetal dystocia and because the affected animals have a reduced fitness with little chances of survival. This review depicts, in the river buffalo (Bubalus bubalis) world population, the present status of the congenital malformations, due to genetic causes, to identify their frequency and distribution in order to develop genetic breeding plans able to improve the productive and reproductive performance, and avoid the spreading of detrimental gene variants. Congenital

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 < .0001). Women who had worked as a healthcare professional had a higher prevalence of awareness of CMV than had other women (56% versus 16%, P < .0001). Women who were aware of CMV were most likely to have heard about it from a healthcare provider (54%), but most could not correctly identify modes of CMV transmission or prevention. Among common causes of birth defects and childhood illnesses, women's awareness of CMV ranked last. Conclusion. Despite its large public health burden, few women had heard of congenital CMV, and even fewer were aware of prevention strategies. PMID:17485810

Knowledge and Awareness of Congenital Cytomegalovirus Among Women

Directory of Open Access Journals (Sweden)

Jiyeon Jeon

2006-01-01

Full Text Available 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<.0001. Women who had worked as a healthcare professional had a higher prevalence of awareness of CMV than had other women (56% versus 16%, P <.0001. Women who were aware of CMV were most likely to have heard about it from a healthcare provider (54%, but most could not correctly identify modes of CMV transmission or prevention. Among common causes of birth defects and childhood illnesses, women's awareness of CMV ranked last. Conclusion. Despite its large public health burden, few women had heard of congenital CMV, and even fewer were aware of prevention strategies.

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.

Congenital Aortic Stenosis and Aneurysms

NARCIS (Netherlands)

D. van der Linde (Denise)

2013-01-01

textabstractDue to improvements in pediatric cardio-thoracic surgery, anesthesia and diagnostics over the past decades, the number of adult patients with congenital heart disease (CHD) is growing. This causes an increasing demand in clinical practice for insight in long term outcome in both

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.

Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations

NARCIS (Netherlands)

van der Werf, Christine S.; Sribudiani, Yunia; Verheij, Joke B. G. M.; Carroll, Matthew; O'Loughlin, Edward; Chen, Chien-Huan; Brooks, Alice S.; Liszewski, M. Kathryn; Atkinson, John P.; Hofstra, Robert M. W.

Purpose: Autosomal recessive congenital short bowel syndrome is caused by mutations in CLMP. No mutations were found in the affected males of a family with presumed X-linked congenital short bowel syndrome or in an isolated male patient. Our aim was to identify the disease-causing mutation in these

Xenopus: An Emerging Model for Studying Congenital Heart Disease

Science.gov (United States)

Kaltenbrun, Erin; Tandon, Panna; Amin, Nirav M.; Waldron, Lauren; Showell, Chris; Conlon, Frank L.

2011-01-01

Congenital heart defects affect nearly 1% of all newborns and are a significant cause of infant death. Clinical studies have identified a number of congenital heart syndromes associated with mutations in genes that are involved in the complex process of cardiogenesis. The African clawed frog, Xenopus, has been instrumental in studies of vertebrate heart development and provides a valuable tool to investigate the molecular mechanisms underlying human congenital heart diseases. In this review, we discuss the methodologies that make Xenopus an ideal model system to investigate heart development and disease. We also outline congenital heart conditions linked to cardiac genes that have been well-studied in Xenopus and describe some emerging technologies that will further aid in the study of these complex syndromes. PMID:21538812

Angle closure glaucoma in congenital ectropion uvea.

Science.gov (United States)

Wang, Grace M; Thuente, Daniel; Bohnsack, Brenda L

2018-06-01

Congenital ectropion uvea is a rare anomaly, which is associated with open, but dysplastic iridocorneal angles that cause childhood glaucoma. Herein, we present 3 cases of angle-closure glaucoma in children with congenital ectropion uvea. Three children were initially diagnosed with unilateral glaucoma secondary to congenital ectropion uvea at 7, 8 and 13 years of age. The three cases showed 360° of ectropion uvea and iris stromal atrophy in the affected eye. In one case, we have photographic documentation of progression to complete angle closure, which necessitated placement of a glaucoma drainage device 3 years after combined trabeculotomy and trabeculectomy. The 2 other cases, which presented as complete angle closure, also underwent glaucoma drainage device implantation. All three cases had early glaucoma drainage device encapsulation (within 4 months) and required additional surgery (cycloablation or trabeculectomy). Congenital ectropion uvea can be associated with angle-closure glaucoma, and placement of glaucoma drainage devices in all 3 of our cases showed early failure due to plate encapsulation. Glaucoma in congenital ectropion uvea requires attention to angle configuration and often requires multiple surgeries to obtain intraocular pressure control.

Congenital cytomegalovirus related intestinal malrotation: a case report.

Science.gov (United States)

Colomba, Claudia; Giuffrè, Mario; La Placa, Simona; Cascio, Antonio; Trizzino, Marcello; De Grazia, Simona; Corsello, Giovanni

2016-12-07

Cytomegalovirus is the most common cause of congenital infection in the developed countries. Gastrointestinal involvement has been extensively described in both adult and paediatric immunocompromised patients but it is infrequent in congenital or perinatal CMV infection. We report on a case of coexistent congenital Cytomegalovirus infection with intestinal malrotation and positive intestinal Cytomegalovirus biopsy. At birth the neonate showed clinical and radiological evidence of intestinal obstruction. Meconium passed only after evacuative nursing procedures; stooling pattern was irregular; gastric residuals were bile-stained. Laparatomy revealed a complete intestinal malrotation and contextually gastrointestinal biopsy samples of the appendix confirmed the diagnosis of CMV gastrointestinal disease. Intravenous ganciclovir was initiated for 2 weeks, followed by oral valgancyclovir for 6 month. CMV-induced proinflammatory process may be responsible of the interruption of the normal development of the gut or could in turn lead to a disruption in the normal development of the gut potentiating the mechanism causing malrotation. We suggest the hypothesis that an inflammatory process induced by CMV congenital infection may be responsible, in the early gestation, of the intestinal end-organ disease, as the intestinal malrotation. CMV infection should always be excluded in full-term infants presenting with colonic stricture or malrotation.

Congenital Malformations in River Buffalo (Bubalus bubalis

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Sara Albarella

2017-02-01

Full Text Available The world buffalo population is about 168 million, and it is still growing, in India, China, Brazil, and Italy. In these countries, buffalo genetic breeding programs have been performed for many decades. The occurrence of congenital malformations has caused a slowing of the genetic progress and economic loss for the breeders, due to the death of animals, or damage to their reproductive ability or failing of milk production. Moreover, they cause animal welfare reduction because they can imply foetal dystocia and because the affected animals have a reduced fitness with little chances of survival. This review depicts, in the river buffalo (Bubalus bubalis world population, the present status of the congenital malformations, due to genetic causes, to identify their frequency and distribution in order to develop genetic breeding plans able to improve the productive and reproductive performance, and avoid the spreading of detrimental gene variants. Congenital malformations most frequently reported in literature or signaled by breeders to the Department of Veterinary Medicine and Animal Production of the University Federico II (Naples, Italy in river buffalo are: musculoskeletal defects (transverse hemimelia, arthrogryposis, umbilical hernia and disorders of sexual development. In conclusion this review put in evidence that river buffalo have a great variety of malformations due to genetic causes, and TH and omphalocele are the most frequent and that several cases are still not reported, leading to an underestimation of the real weight of genetic diseases in this species.

Imaging of Cranial Nerves III, IV, VI in Congenital Cranial Dysinnervation Disorders.

Science.gov (United States)

Kim, Jae Hyoung; Hwang, Jeong Min

2017-06-01

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. © 2017 The Korean Ophthalmological Society.

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.)

Vibrotactile masking experiments reveal accelerated somatosensory processing in congenitally blind braille readers.

Science.gov (United States)

Bhattacharjee, Arindam; Ye, Amanda J; Lisak, Joy A; Vargas, Maria G; Goldreich, Daniel

2010-10-27

Braille reading is a demanding task that requires the identification of rapidly varying tactile patterns. During proficient reading, neighboring characters impact the fingertip at ∼100 ms intervals, and adjacent raised dots within a character at 50 ms intervals. Because the brain requires time to interpret afferent sensorineural activity, among other reasons, tactile stimuli separated by such short temporal intervals pose a challenge to perception. How, then, do proficient Braille readers successfully interpret inputs arising from their fingertips at such rapid rates? We hypothesized that somatosensory perceptual consolidation occurs more rapidly in proficient Braille readers. If so, Braille readers should outperform sighted participants on masking tasks, which demand rapid perceptual processing, but would not necessarily outperform the sighted on tests of simple vibrotactile sensitivity. To investigate, we conducted two-interval forced-choice vibrotactile detection, amplitude discrimination, and masking tasks on the index fingertips of 89 sighted and 57 profoundly blind humans. Sighted and blind participants had similar unmasked detection (25 ms target tap) and amplitude discrimination (compared with 100 μm reference tap) thresholds, but congenitally blind Braille readers, the fastest readers among the blind participants, exhibited significantly less masking than the sighted (masker, 50 Hz, 50 μm; target-masker delays, ±50 and ±100 ms). Indeed, Braille reading speed correlated significantly and specifically with masking task performance, and in particular with the backward masking decay time constant. We conclude that vibrotactile sensitivity is unchanged but that perceptual processing is accelerated in congenitally blind Braille readers.

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

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.…

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.

Congenital duodenal diaphragm in eight children

International Nuclear Information System (INIS)

Nawaz, Akhtar; Matta, Hilal; Jacobsz, Alic; Al-Salem, Ahmad H.; Trad, Omar

2004-01-01

Congenital duodenal obstruction (CDO) is common and usually easy to diagnose cause of intestinal obstruction in the newborn, except when the cause of the obstruction is duodenal diaphragm. We describe our experience with eight children who had intrinsic duodenal obstruction secondary to a duodenal diaphragm. The medical record of 22 children with the diagnosis of congenital intrinsic duodenal were reviewed for age, sex, gestation, birth weight, clinical features, associated anomalies, method of diagnosis, treatment and outcome. Operative findings and procedures were obtained from the operative notes. Eight of 22 children (36.4%) had congenital duodenal diaphragm (CDD). In all children, the diagnosis was made from the plain abdominal X-ray, which showed the classic double-bubble appearence, and barium meal, which showed duodenal obstruction. Four patients had associated anomalies, including two with Down's syndrome intraoperatively, five patients were found to have duodenal diaphragm with a central hole, while the other three had complete duodenal diaphragms. Postoperatively, all patients did well. Six required total parenteral nutrition. The 100% survival rate among these children is comparable to that in Western countries, and can be attributed to the lack of major associated abnormalities, good perioperative management, and the availability of total parenteral nutrition. (author)

Isolated bilateral congenital lacrimal gland agenesis – Report of two cases

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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

Congenital diaphragmatic hernia as a part of Nance-Horan syndrome?

Science.gov (United States)

Kammoun, Molka; Brady, Paul; De Catte, Luc; Deprest, Jan; Devriendt, Koenraad; Vermeesch, Joris Robert

2018-03-01

Nance-Horan syndrome is a rare X-linked developmental disorder characterized by bilateral congenital cataract, dental anomalies, facial dysmorphism, and intellectual disability. Here, we identify a patient with Nance-Horan syndrome caused by a new nonsense NHS variant. In addition, the patient presented congenital diaphragmatic hernia. NHS gene expression in murine fetal diaphragm was demonstrated, suggesting a possible involvement of NHS in diaphragm development. Congenital diaphragmatic hernia could result from NHS loss of function in pleuroperitoneal fold or in somites-derived muscle progenitor cells leading to an impairment of their cells migration.

Congenital anophthalmia: current concepts in management.

Science.gov (United States)

Quaranta-Leoni, Francesco M

2011-09-01

The introduction of hydrogel socket and orbital expanders has modified the approach towards the rehabilitation of congenital anophthalmia. This study highlights the most recent advances for the treatment of congenital anophthalmia based on personal experience and the review of recent literature. Hydrogel socket expanders may be positioned as an out-patient procedure with topical anaesthesia, using cyanoacrylate glue as opposed to temporary tarsorraphy. Increased orbital volume has been confirmed by computed tomography (CT) scan or magnetic resonance imaging (MRI) following early dermis-fat graft in children with congenital anophthalmia. An orbital tissue expander made of an inflatable silicone globe sliding on a titanium T-plate and secured to the lateral orbital rim appears to be effective to stimulate orbital bone growth and development. Congenital anophthalmia has a complex cause with both genetic and environmental factors involved. The ideal treatment is simultaneous expansion of the eyelids, socket and orbital bones, and it should begin after birth as soon as possible. Socket expansion with self-inflating expanders is a useful technique, although custom-made conformers may produce similar results. Dermis-fat grafts are another reasonable option as an orbital implant, following adequate lid and socket expansion.

A splice-site mutation affecting the paired box of PAX3 in a three generation family with Waardenburg syndrome type I (WS1).

Science.gov (United States)

Attaie, A; Kim, E; Wilcox, E R; Lalwani, A K

1997-06-01

Waardenburg syndrome, an autosomal dominant disorder characterized by sensorineural hearing loss, pigmentary disturbances and other developmental defects, is the most frequent form of congenital deafness in humans. Mutations in the PAX3 gene, a transcription factor expressed during embryonic development, is associated with WS types I and III. Here we report the identification of a novel acceptor splice site mutation (86-2 A-->G) in the paired domain of the human PAX3 gene causing WS type I in a three generation family.

Sudden bilateral sensorineural hearing loss as an unusual consequence of accidental ingestion of potassium hydroxide.

Science.gov (United States)

Ciorba, A; Bovo, R; Castiglione, A; Pirodda, A; Martini, A

2010-01-01

To discuss the possible etiopathogenetic mechanism of inner ear damage induced by the ingestion of potassium hydroxide (KOH). We report the case of a 37-year-old patient with sudden bilateral sensorineural hearing loss after accidental ingestion of a KOH solution. The first ear, nose and throat examination disclosed only mild edema of the upper airways. He was treated in the intensive care unit and prescribed high-dose steroids, proton pump inhibitors and sucralfate for 2 weeks. Unfortunately, there was no recovery of the hearing loss, and no audiogram changes were noticed after 12 months of follow-up. After exploring the possible etiopathogenetic mechanism involved, the authors believe that in this case, a transient severe hemodynamic imbalance can actually be considered to be the most reliable explanation for the inner ear damage and subsequent onset of permanent bilateral sensorineural hearing loss. Copyright 2010 S. Karger AG, Basel.

FastStats: Birth Defects or Congenital Anomalies

Science.gov (United States)

... this? Submit What's this? Submit Button NCHS Home Birth Defects or Congenital Anomalies Recommend on Facebook Tweet ... 4,825 Infant deaths per 100,000 live births: 121.3 Cause of infant death rank: 1 ...

A case report of congenital sensory neuropathy with anhidrosis

International Nuclear Information System (INIS)

Lee, Won Hyong; Chang, Hae Soon; Han, Man Chung; Lee, Suck Hyun; Lee, Duk Yong

1974-01-01

Congenital sensory neuropathy with anhidrosis is rare disease and may be confused with other cause of pain insensitivity or indifference. Other cause of pain insensitivity include congenital indifference to pain, congenital sensory neuropathy, hereditary sensory radicular neuropathy, nonprogressive sensory radicular neuropathy, syringomyelia, and hysterical analgesia. It is hereditary disease which is transmitted with autosomal recessive trait. The patient is 8 years old Korean male with complaint of swelling and local heat on right knee joint. Generalized analgesia is noted on physical examination. The skin is dry and coarse with no evidence of sweating. Delayed motor development was noted on early children. Mental development is retarded. On past history, patient showed unpredictable rises of temperature, though the general condition remained good. Multiple painless fracture on right humerus and right metatasal bone was occurred. Rt.knee radiograms show marked swelling of soft tissue and periosteal calcification on distal femru,which are resemble with neurotrophic joint

A case report of congenital sensory neuropathy with anhidrosis

Energy Technology Data Exchange (ETDEWEB)

Lee, Won Hyong; Chang, Hae Soon; Han, Man Chung; Lee, Suck Hyun; Lee, Duk Yong [Seoul National University College of Medicine, Seoul (Korea, Republic of)

1974-10-15

Congenital sensory neuropathy with anhidrosis is rare disease and may be confused with other cause of pain insensitivity or indifference. Other cause of pain insensitivity include congenital indifference to pain, congenital sensory neuropathy, hereditary sensory radicular neuropathy, nonprogressive sensory radicular neuropathy, syringomyelia, and hysterical analgesia. It is hereditary disease which is transmitted with autosomal recessive trait. The patient is 8 years old Korean male with complaint of swelling and local heat on right knee joint. Generalized analgesia is noted on physical examination. The skin is dry and coarse with no evidence of sweating. Delayed motor development was noted on early children. Mental development is retarded. On past history, patient showed unpredictable rises of temperature, though the general condition remained good. Multiple painless fracture on right humerus and right metatasal bone was occurred. Rt.knee radiograms show marked swelling of soft tissue and periosteal calcification on distal femru,which are resemble with neurotrophic joint.

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

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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.

Autosomal-dominant Leber Congenital Amaurosis Caused by a Heterozygous CRX Mutation in a Father and Son.

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Arcot Sadagopan, Karthikeyan; Battista, Robert; Keep, Rosanne B; Capasso, Jenina E; Levin, Alex V

2015-06-01

Leber congenital amaurosis (LCA) is most often an autosomal recessive disorder. We report a father and son with autosomal dominant LCA due to a mutation in the CRX gene. DNA screening using an allele specific assay of 90 of the most common LCA-causing variations in the coding sequences of AIPL1, CEP290, CRB1, CRX, GUCY2D, RDH12 and RPE65 was performed on the father. Automated DNA sequencing of his son examining exon 3 of the CRX gene was subsequently performed. Both father and son have a heterozygous single base pair deletion of an adenine at codon 153 in the coding sequence of the CRX gene resulting in a frameshift mutation. Mutations involving the CRX gene may demonstrate an autosomal dominant inheritance pattern for LCA.

Congenital nephrotic syndrome

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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

Etiological evaluation of primary congenital hypothyroidism cases.

Science.gov (United States)

Bezen, Diğdem; Dilek, Emine; Torun, Neşe; Tütüncüler, Filiz

2017-06-01

Primary congenital hypothyroidism is frequently seen endocrine disorder and one of the preventable cause of mental retardation. Aim of study was to evaluate the frequency of permanent/transient hypothyrodism, and to detect underlying reason to identfy any marker which carries potential to discriminate permanent/transient form. Forty eight cases older than 3 years of age, diagnosed as primary congenital hypothyroidism and started thyroxin therapy in newborn-period, and followed up between January 2007-June 2013 were included in the study. Thyroid hormon levels were evaluated and thyroid ultrasonography was performed in cases who are at the end of their 3 years of age, after 6 weeks of thyroxine free period. Thyroid sintigraphy was performed if serum thyroid-stimulating hormone was high (≥ 5 mIU/mL) and perchlorate discharge test was performed if uptake was normal or increased on sintigraphy. Cases with thyroid-stimulating hormone levels ≥ 5 mIU/mL were defined as permanent primary congenital hypothyroidism group and as transient primary congenital hypothyroidism group with normal thyroid hormones during 6 months. The mean age was 3.8±0.7 years. Mean diagnosis age was 16.6±6.5 days and 14 cases (29.2%) were diagnosed by screening program of Ministry of Health. There were 23 cases (14F, 9M) in permanent primary congenital hypothyroidism group and 12 (52.2%) of them were dysgenesis (8 hypoplasia, 4 ectopia), and 11 (47.8%) dyshormonogenesis. In transient primary congenital hypothyroidism group, there were 25 cases (17M, 8F). The mean thyroid-stimulating hormone levels at diagnosis were similar in two groups. The mean thyroxin dose in permanent primary congenital hypothyroidism group was significantly higher than transient group at the time of thyroxin cessation (2.1±0.7, 1.5±0.5 mg/kg/d, respectively, p=0.004). Thyroxin dose ≥1.6 mcg/kg/d was 72% sensitive and 69.6% specific for predicting permenant primary congenital hypothyroidism. Transient primary

Neurodevelopmental Disorders in Children with Severe to Profound Sensorineural Hearing Loss: A Clinical Study

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Chilosi, Anna M.; Comparini, Alessandro; Scusa, Maria F.; Berrettini, Stefano; Forli, Francesca; Battini, Roberta; Cipriani, Paola; Cioni, Giovanni

2010-01-01

Aim: The effects of sensorineural hearing loss (SNHL) are often complicated by additional disabilities, but the epidemiology of associated disorders is not clearly defined. The aim of this study was to evaluate the frequency and type of additional neurodevelopmental disabilities in a sample of children with SNHL and to investigate the relation…

CONGENITAL MYOTONIC DYSTROPHY – CASE REPORT

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David Neubauer

2001-07-01

Full Text Available Background. Myotonic dystrophy is inherited as an autosomal dominant trait. It is characterized by myotonia, myopathy of voluntary and involuntary muscles, frontal baldness in men, cardiac conduction abnormalities, catharacts, intellectual deterioration and endocrinopathy. Men with this disorder have often gonadal atrophy and infertility. On the other hand women are generally fertile. During pregnancy their myopathy worsens, often causing severe obstetrical complications. Their children may develop congenital form of the disease with signs of myopathy in utero and have great difficulties in maintaining life functions after birth, together with other characteristical signs of this form: bilateral facial weakness, severe hypotonia, feeding difficulties, talipes equinovarus and mental retardation. The authors present a female newborn with such congenital form of myotonic dystrophy.Conclusions. The authors have emphasized the importance of medical history, regular updating of all the cases of neuromuscular diseases in the region and clinical characteristics for the recognition of congenital form of myotonic dystrophy because of possible prenatal diagnostics and better antenatal and postantal care.

Congenital Chylothorax in a Newborn with Down Syndrome

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Nazan Neslihan Doğan

2017-03-01

Full Text Available In the neonatal period, the most common cause of pleural effusion is idiopathic congenital chylothorax. Congenital chylothorax is rarely associated with chromosomal abnormalities, such as Down, Turner and Noonan syndromes. The diagnosis can be made after analysis of the pleural fluid drained by thoracentesis or chest tube placement. During the neonatal period, chylothorax treatment is composed of conservative and surgical therapies. Nowadays, for cases among which conservative therapies fail, treatment with octreotide has been reported to be beneficial with promising results. In this report, a case of congenital chylothorax, in a newborn with Down syndrome, treated by octreotide after failure of chest tube drainage and medical treatment (total parenteral nutrition and medium chain fatty acid formula is presented.

Increased arterial stiffness in children with congenital heart disease.

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Häcker, Anna-Luisa; Reiner, Barbara; Oberhoffer, Renate; Hager, Alfred; Ewert, Peter; Müller, Jan

2018-01-01

Objective Central systolic blood pressure (SBP) is a measure of arterial stiffness and strongly associated with atherosclerosis and end-organ damage. It is a stronger predictor of cardiovascular events and all-cause mortality than peripheral SBP. In particular, for children with congenital heart disease, a higher central SBP might impose a greater threat of cardiac damage. The aim of the study was to analyse and compare central SBP in children with congenital heart disease and in healthy counterparts. Patients and methods Central SBP was measured using an oscillometric method in 417 children (38.9% girls, 13.0 ± 3.2 years) with various congenital heart diseases between July 2014 and February 2017. The test results were compared with a recent healthy reference cohort of 1466 children (49.5% girls, 12.9 ± 2.5 years). Results After correction for several covariates in a general linear model, central SBP of children with congenital heart disease was significantly increased (congenital heart disease: 102.1 ± 10.2 vs. healthy reference cohort: 100.4 ± 8.6, p congenital heart disease subgroups revealed higher central SBP in children with left heart obstructions (mean difference: 3.6 mmHg, p congenital heart disease have significantly higher central SBP compared with healthy peers, predisposing them to premature heart failure. Screening and long-term observations of central SBP in children with congenital heart disease seems warranted in order to evaluate the need for treatment.

Mortality among infants with congenital malformations, New York State, 1983 to 1988.

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Druschel, C; Hughes, J P; Olsen, C

1996-01-01

OBJECTIVE. The authors examined first-year mortality and risk factors for mortality among infants with major congenital malformations. METHODS. Infants with major congenital malformations born from 1983 to 1988 were identified from a statewide population-based congenital malformations registry. Variables analyzed included year of birth, birth weight, gestational age, infant sex, number of malformations, number of organ systems involved, level of care of the birth hospital, maternal age, maternal education, and maternal ethnicity. RESULTS. Infants with major malformations had a risk of death 6.3 times higher than the general population of live births. The risk declined from 6.5 in 1983 to 5.9 in 1988. Birth weight and number of malformations were the strongest risk factors. The likelihood of survival was similar for white and black infants. CONCLUSIONS. Being born with a malformation outweighs most of the other risks for infant mortality. Children with congenital malformations had higher cause-specific mortality for all causes except injury. PMID:8711105

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.

Science.gov (United States)

Wortmann, Saskia B; Ziętkiewicz, Szymon; Kousi, Maria; Szklarczyk, Radek; Haack, Tobias B; Gersting, Søren W; Muntau, Ania C; Rakovic, Aleksandar; Renkema, G Herma; Rodenburg, Richard J; Strom, Tim M; Meitinger, Thomas; Rubio-Gozalbo, M Estela; Chrusciel, Elzbieta; Distelmaier, Felix; Golzio, Christelle; Jansen, Joop H; van Karnebeek, Clara; Lillquist, Yolanda; Lücke, Thomas; Õunap, Katrin; Zordania, Riina; Yaplito-Lee, Joy; van Bokhoven, Hans; Spelbrink, Johannes N; Vaz, Frédéric M; Pras-Raves, Mia; Ploski, Rafal; Pronicka, Ewa; Klein, Christine; Willemsen, Michel A A P; de Brouwer, Arjan P M; Prokisch, Holger; Katsanis, Nicholas; Wevers, Ron A

2015-02-05

We studied a group of individuals with elevated urinary excretion of 3-methylglutaconic acid, neutropenia that can develop into leukemia, a neurological phenotype ranging from nonprogressive intellectual disability to a prenatal encephalopathy with progressive brain atrophy, movement disorder, cataracts, and early death. Exome sequencing of two unrelated individuals and subsequent Sanger sequencing of 16 individuals with an overlapping phenotype identified a total of 14 rare, predicted deleterious alleles in CLPB in 14 individuals from 9 unrelated families. CLPB encodes caseinolytic peptidase B homolog ClpB, a member of the AAA+ protein family. To evaluate the relevance of CLPB in the pathogenesis of this syndrome, we developed a zebrafish model and an in vitro assay to measure ATPase activity. Suppression of clpb in zebrafish embryos induced a central nervous system phenotype that was consistent with cerebellar and cerebral atrophy that could be rescued by wild-type, but not mutant, human CLPB mRNA. Consistent with these data, the loss-of-function effect of one of the identified variants (c.1222A>G [p.Arg408Gly]) was supported further by in vitro evidence with the mutant peptides abolishing ATPase function. Additionally, we show that CLPB interacts biochemically with ATP2A2, known to be involved in apoptotic processes in severe congenital neutropenia (SCN) 3 (Kostmann disease [caused by HAX1 mutations]). Taken together, mutations in CLPB define a syndrome with intellectual disability, congenital neutropenia, progressive brain atrophy, movement disorder, cataracts, and 3-methylglutaconic aciduria. Copyright © 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

Congenital eversion of upper eyelids: Case report and management

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Maheshwari Rajat

2006-01-01

Full Text Available Congenital eversion of the upper eyelids is a rare condition, the exact cause of which remains unknown. It is more frequently associated with Down′s syndrome and black babies. If diagnosed early and treated properly, the condition can be managed without surgery. We report a case of congenital bilateral severe upper eyelid eversion in a normal infant, born by vaginal delivery. The case was conservatively managed by lubricants, antibiotics and eyelid patching.

Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome

NARCIS (Netherlands)

O'Grady, Gina L.; Verschuuren, Corien; Yuen, Michaela; Webster, Richard; Menezes, Manoj; Fock, Johanna M.; Pride, Natalie; Best, Heather A.; Damm, Tatiana Benavides; Turner, Christian; Lek, Monkol; Engel, Andrew G.; North, Kathryn N.; Clarke, Nigel F.; MacArthur, Daniel G.; Kamsteeg, Erik-Jan; Cooper, Sandra T.

2016-01-01

Objective: To describe the clinical and genetic characteristics of presynaptic congenital myasthenic syndrome secondary to biallelic variants in SLC18A3. Methods: Individuals from 2 families were identified with biallelic variants in SLC18A3, the gene encoding the vesicular acetylcholine transporter

Challenges in management of childhood sensorineural hearing loss in sub-Saharan Africa, Nigeria.

Science.gov (United States)

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.

Three-dimensional computed tomography in the assessment of congenital scoliosis

International Nuclear Information System (INIS)

Bush, C.H.; Kalen, V.

1999-01-01

Objective. Patients with congenital vertebral anomalies frequently are afflicted with kyphoscoliosis, with the curvatures often being severe and progressive. Spinal fusion almost always is the treatment of choice in such patients. This report examines the use of three-dimensional computed tomography (3D CT) in the preoperative investigation of patients with congenital scoliosis.Design and patients. Twelve spinal CT examinations on 11 pediatric patients with congenital scoliosis underwent image processing to produce 3D images. The 3D images were compared with both the axial sections from the CT examinations and multiplanar reformations with regard to the detection of malformations liable to cause progression of scoliosis (i. e., hemivertebrae and unsegmented bars).Results and conclusions. In six of the 12 cases, the 3D images provided improved depiction of the congenital anomalies and their interrelationships compared with planar CT images. This work suggests that 3D CT can be a useful tool in the assessment of patients with congenital scoliosis. (orig.)

[Congenital heart disease mortality in Spain during a 10 year period (2003-2012)].

Science.gov (United States)

Pérez-Lescure Picarzo, Javier; Mosquera González, Margarita; Latasa Zamalloa, Pello; Crespo Marcos, David

2018-05-01

Congenital heart disease is a major cause of infant mortality in developed countries. In Spain, there are no publications at national level on mortality due to congenital heart disease. The aim of this study is to analyse mortality in infants with congenital heart disease, lethality of different types of congenital heart disease, and their variation over a ten-year period. A retrospective observational study was performed to evaluate mortality rate of children under one year old with congenital heart disease, using the minimum basic data set, from 2003 to 2012. Mortality rate and relative risk of mortality were estimated by Poisson regression. There were 2,970 (4.58%) infant deaths in a population of 64,831 patients with congenital heart disease, with 73.8% of deaths occurring during first week of life. Infant mortality rate in patients with congenital heart disease was 6.23 per 10,000 live births, and remained constant during the ten-year period of the study, representing 18% of total infant mortality rate in Spain. The congenital heart diseases with highest mortality rates were hypoplastic left heart syndrome (41.4%), interruption of aortic arch (20%), and total anomalous pulmonary drainage (16.8%). Atrial septal defect (1%) and pulmonary stenosis (1.1%) showed the lowest mortality rate. Congenital heart disease was a major cause of infant mortality with no variations during the study period. The proportion of infants who died in our study was similar to other similar countries. In spite of current medical advances, some forms of congenital heart disease show very high mortality rates. Copyright © 2017 Asociación Española de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

Congenital and hereditary causes of sudden cardiac death in young adults: diagnosis, differential diagnosis, and risk stratification.

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Stojanovska, Jadranka; Garg, Anubhav; Patel, Smita; Melville, David M; Kazerooni, Ella A; Mueller, Gisela C

2013-01-01

Sudden cardiac death is defined as death from unexpected circulatory arrest-usually a result of cardiac arrhythmia-that occurs within 1 hour of the onset of symptoms. Proper and timely identification of individuals at risk for sudden cardiac death and the diagnosis of its predisposing conditions are vital. A careful history and physical examination, in addition to electrocardiography and cardiac imaging, are essential to identify conditions associated with sudden cardiac death. Among young adults (18-35 years), sudden cardiac death most commonly results from a previously undiagnosed congenital or hereditary condition, such as coronary artery anomalies and inherited cardiomyopathies (eg, hypertrophic cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy [ARVC], dilated cardiomyopathy, and noncompaction cardiomyopathy). Overall, the most common causes of sudden cardiac death in young adults are, in descending order of frequency, hypertrophic cardiomyopathy, coronary artery anomalies with an interarterial or intramural course, and ARVC. Often, sudden cardiac death is precipitated by ventricular tachycardia or fibrillation and may be prevented with an implantable cardioverter defibrillator (ICD). Risk stratification to determine the need for an ICD is challenging and involves imaging, particularly echocardiography and cardiac magnetic resonance (MR) imaging. Coronary artery anomalies, a diverse group of congenital disorders with a variable manifestation, may be depicted at coronary computed tomographic angiography or MR angiography. A thorough understanding of clinical risk stratification, imaging features, and complementary diagnostic tools for the evaluation of cardiac disorders that may lead to sudden cardiac death is essential to effectively use imaging to guide diagnosis and therapy.

Prenatal diagnosis and perinatal management of congenital hydrocephalus using MRI

International Nuclear Information System (INIS)

Hamada, Hiromi; Koresawa, Mitsuhiko; Kubo, Takeshi

1990-01-01

We studied congenital hydrocephalus in 14 patients who were diagnosed prenatally. As a result, we obtained the following insights concerning the prenatal diagnosis by MRI (magnetic resonance imaging) and perinatal management of congenital hydrocephalus. Accurate diagnosis of congenital hydrocephalus was impossible prenatally by two-dimensional ultrasonography or computed tomography alone in some patients. MRI was useful for accurate prenatal diagnosis. Problem of MRI in prenatal diagnosis included deterioration of the image by fetal movements and safety concern over the fetus. The cause of hydrocephalus, complicated anomaly, cerebral cortical thickness, and gestational age must be considered in the perinatal management of congenital hydrocephalus. There appeared to be a chance of recovery to a certain extent from thinning of cerebral cortex by decompression in a patient in whom dilation of cerebral ventricles progressed rapidly. (author)

Genetics of congenital hypogonadotropic hypogonadism in Denmark

DEFF Research Database (Denmark)

Tommiska, Johanna; Känsäkoski, Johanna; Christiansen, Peter

2014-01-01

Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder characterized by incomplete/absent puberty caused by deficiency or defective action of gonadotropin-releasing hormone (GnRH). The phenotypic features of patients with CHH vary from genital hypoplasia and absent puberty to reversal...

Dental signs attributed to congenital syphilis and its treatments in the Hamann-Todd Skeletal Collection

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Ioannou Stella

2017-12-01

Full Text Available Syphilis in the United States during the 1800s and 1900s had a high prevalence rate causing great concern to health officials. Various measures were taken to control its spread. Mercuric treatments were used up until the introduction of penicillin. The aim of this paper is to determine whether dental abnormalities related to congenital syphilis in individuals who died of syphilis or syphilis-related causes, in the Hamman Todd Osteological Collection, occur and whether mercurial treatment was effective. Hutchinson, Moon and Fournier’s works were analyzed to determine dental abnormalities associated with congenital syphilis and its treatments and used as criteria. Hillson et al. (AJPA,107:25-40 standardized method of description of dental changes was used. In the Hamman Todd Osteological Collection in Cleveland, Ohio, 102 individuals had cause of death recorded in the catalogue as syphilis or lues, and 69 had causes of death relating to syphilis which included paresis (53, aortic insufficiency (15 and pericarditis (1. Thus altogether 171 individuals were studied. Dentition was examined to determine if dental abnormalities associated with congenital syphilis and its treatments were present in individuals not recorded as having congenital syphilis. Crania were examined for any osteological changes. One individual (2266 demonstrated dental malformations possibly related to the congenital disease itself, while three demonstrated dental abnormalities associated with mercuric treatments in childhood (2118, 2263 and 3097. No remarkable bone pathologies were evident on any skull. The use of pre-penicillin treatment of congenital syphilis may have been effective to maintain health into adulthood but not always in eradicating the infection. Effects of mercury on enamel formation and bone changes, need to be considered when making a differential diagnosis of syphilis/congenital syphilis.

Diffusion Tensor Imaging of Central Auditory Pathways in Patients with Sensorineural Hearing Loss: A Systematic Review.

Science.gov (United States)

Tarabichi, Osama; Kozin, Elliott D; Kanumuri, Vivek V; Barber, Samuel; Ghosh, Satra; Sitek, Kevin R; Reinshagen, Katherine; Herrmann, Barbara; Remenschneider, Aaron K; Lee, Daniel J

2018-03-01

Objective The radiologic evaluation of patients with hearing loss includes computed tomography and magnetic resonance imaging (MRI) to highlight temporal bone and cochlear nerve anatomy. The central auditory pathways are often not studied for routine clinical evaluation. Diffusion tensor imaging (DTI) is an emerging MRI-based modality that can reveal microstructural changes in white matter. In this systematic review, we summarize the value of DTI in the detection of structural changes of the central auditory pathways in patients with sensorineural hearing loss. Data Sources PubMed, Embase, and Cochrane. Review Methods We used the Preferred Reporting Items for Systematic Reviews and Meta-Analysis statement checklist for study design. All studies that included at least 1 sensorineural hearing loss patient with DTI outcome data were included. Results After inclusion and exclusion criteria were met, 20 articles were analyzed. Patients with bilateral hearing loss comprised 60.8% of all subjects. Patients with unilateral or progressive hearing loss and tinnitus made up the remaining studies. The auditory cortex and inferior colliculus (IC) were the most commonly studied regions using DTI, and most cases were found to have changes in diffusion metrics, such as fractional anisotropy, compared to normal hearing controls. Detectable changes in other auditory regions were reported, but there was a higher degree of variability. Conclusion White matter changes based on DTI metrics can be seen in patients with sensorineural hearing loss, but studies are few in number with modest sample sizes. Further standardization of DTI using a prospective study design with larger sample sizes is needed.

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.)

Congenital intracerebral teratoma: a rare differential diagnosis in newborn hydrocephalus

International Nuclear Information System (INIS)

Storr, U.; Rupprecht, T.; Bornemann, A.; Ries, M.; Beinder, E.; Boewing, B.; Harms, D.

1997-01-01

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.)

Stillbirth and congenital anomalies in migrants in Europe

DEFF Research Database (Denmark)

Andersen, Anne-Marie Nybo; Gundlund, Anna; Villadsen, Sarah Fredsted

2016-01-01

The risk of giving birth to a stillborn child or a child with severe congenital anomaly is higher for women who have immigrated to Europe as compared to the majority population in the receiving country. The literature, however, reveals great differences between migrant groups, even within migrants...... disparity is a result of the socioeconomic disadvantage most migrants face. Consanguinity has been considered as another cause for the increased stillbirth risk and the high risk of congenital anomaly observed in many migrant groups. Utilization and quality of care during pregnancy and childbirth...

Prepubertal growth in congenital disorder of glycosylation type Ia (CDG-Ia)

OpenAIRE

Kjaergaard, S; Muller, J; Skovby, F

2002-01-01

Aims: To delineate the pattern of growth in prepubertal children with congenital disorder of glycosylation type Ia (CDG-Ia) in order to identify critical period(s) and possible cause(s) of growth failure.

[Connexin gene 26 (GJB2) mutations in patients with hereditary non-syndromic sensorineural loss of hearing in the Republic of Sakha (Yakutia)].

Science.gov (United States)

Barashkov, N A; Dzhemileva, L U; Fedorova, S A; Maksimova, N R; Khusnutdinova, E K

2008-01-01

The aim of the study was to elucidate the causes of hereditary non-syndromic loss of hearing, a frequent monogene pathology in the Republic of Sakha (Yakutia). A search for mutations in the coding sequence of the connexin 26 gene gap-junction B2 (GJB2) was undertaken in 79 members of 65 unrelated families with the diagnosis of grade III-IV non-syndromic bilateral sensorineural loss of hearing. Five recessive mutations (35delG, V371, 312-326del14, 333-334delAA, R127H) and three polymorphic variants (V271, M34T, E114G) were identified in Yakut patients. Mutations 35delG (41.7%), 312-326dell4 (4.2%), and 333-334delAA (4.2%) were found in Caucasian patients (Russians, Ukrainians, Inguish). Yakuts were carriers of mutations 35delG (2.1%), V371 (2.1%), R127H (1.0%) and sequence variants V271 (6.3%), M34T (1.0%), E114G (1.0%). GJB2 mutations were identified in 50.1% of the Caucasian patients and in 7.2% of the Yakut patients. The low frequency of GJB2 mutations in Yakuts with non-syndromic sensorineural loss of hearing testifies to the presence of mutations of other genes controlling sound perception in this population.

Congenital Midureteric Stricture

Directory of Open Access Journals (Sweden)

Singh Shalinder

2001-01-01

Full Text Available Congenital midureteric obstruction is a rare entity which can be caused by either ureteric valves or strictures. We report our experience with four patients with midureteric obstruction due to stricture over a six-year period. The condition needs to be differentiated from obstruction of the pelviureteric and vesicoureteric junctions. Obstruction can be initially screened by ultrasound and confirmed by a radionuclide scan with furosemide challenge. Retrograde ureteropyelography and/or intravenous urography may be required to define the level of the stricture.

[Congenital intestinal lymphangiectasia: a rare differential diagnosis in hypoproteinemia in infants].

Science.gov (United States)

Möller, A; Kalhoff, H; Reuter, T; Friedrichs, N; Wagner, N

2006-01-01

Congenital intestinal lymphangiectasia is a rare disease in childhood, which may already cause protein-losing enteropathy in newborns. This is a case report of an infant with generalized edema and protein-losing enteropathy, in whom intestinal lymphangiectasia was diagnosed at the age of two months. Following repetitive intravenous albumin und gamma globulin infusions, the elimination of long-chain fats from the diet and the substitution with medium-chain triglycerides (MCT) led to an improvement of the protein-losing enteropathy. In newborns with low level of serum protein and edema protein-losing enteropathy caused by congenital lymphangiectasia might be considered as a differential diagnosis.

Characterizing auditory processing and perception in individual listeners with sensorineural hearing loss

DEFF Research Database (Denmark)

Jepsen, Morten Løve; Dau, Torsten

2011-01-01

–438 (2008)] was used as a framework. The parameters of the cochlear processing stage of the model were adjusted to account for behaviorally estimated individual basilar-membrane inputoutput functions and the audiogram, from which the amounts of inner hair-cell and outer hair-cell losses were estimated......This study considered consequences of sensorineural hearing loss in ten listeners. The characterization of individual hearing loss was based on psychoacoustic data addressing audiometric pure-tone sensitivity, cochlear compression, frequency selectivity, temporal resolution, and intensity...

Origins and consequences of congenital heart defects affecting the right ventricle.

Science.gov (United States)

Woudstra, Odilia I; Ahuja, Suchit; Bokma, Jouke P; Bouma, Berto J; Mulder, Barbara J M; Christoffels, Vincent M

2017-10-01

Congenital heart disease is a major health issue, accounting for a third of all congenital defects. Improved early surgical management has led to a growing population of adults with congenital heart disease, including patients with defects affecting the right ventricle, which are often classified as severe. Defects affecting the right ventricle often cause right ventricular volume or pressure overload and affected patients are at high risk for complications such as heart failure and sudden death. Recent insights into the developmental mechanisms and distinct developmental origins of the left ventricle, right ventricle, and the outflow tract have shed light on the common features and distinct problems arising in specific defects. Here, we provide a comprehensive overview of the current knowledge on the development into the normal and congenitally malformed right heart and the clinical consequences of several congenital heart defects affecting the right ventricle. Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2017. For permissions, please email: journals.permissions@oup.com.

Transcatheter arterial embolization for congenital renal arteriovenous malformation

International Nuclear Information System (INIS)

Zhou Jun; Hu Tingyang; Yuan Jianhua; Yu Wenqiang

2008-01-01

Objective: To evaluate the effectiveness of transcatheter arterial embolization for congenital renal arteriovenous malformation. Methods: Seven cases of congenital renal arteriovenous malformation causing gross hematuria were retrospectively studied. All of 7 cases were demonstrated by means of angiography and then the catheter was placed superselectively into the involved arterial end of the malformation undertaking embolization with gelfoam, dehydrated ethanol, coils, etc. Results: All the malformations of the 7 cases were successfully embolized with stoppage of gross hematuria within 24 hours. No serious complications occurred except lumbago, fever, gastrointestinal reaction for one week. There was no recurrence of haematuria and the renal function was also normal in all cases during the follow-up for 36 to 98 months. Conclusions: Transcatheter renal arterial angiography and embolization are the important and effective management for the diagnosis and treatment of congenital renal arteriovenous malformation. (authors)

Spectrum of myeloid neoplasms and immune deficiency associated with germline GATA2 mutations

OpenAIRE

Mir, Muhammad A; Kochuparambil, Samith T; Abraham, Roshini S; Rodriguez, Vilmarie; Howard, Matthew; Hsu, Amy P; Jackson, Amie E; Holland, Steven M; Patnaik, Mrinal M

2015-01-01

Guanine-adenine-thymine-adenine 2 (GATA2) mutated disorders include the recently described MonoMAC syndrome (Monocytopenia and Mycobacterium avium complex infections), DCML (dendritic cell, monocyte, and lymphocyte deficiency), familial MDS/AML (myelodysplastic syndrome/acute myeloid leukemia) (myeloid neoplasms), congenital neutropenia, congenital lymphedema (Emberger's syndrome), sensorineural deafness, viral warts, and a spectrum of aggressive infections seen across all age groups. While c...

The risk ratio for development of hereditary sensorineural hearing loss in consanguineous marriage offspring.

Science.gov (United States)

Sanyelbhaa, Hossam; Kabel, Abdelmagied; Abo El-Naga, Heba Abd El-Rehem; Sanyelbhaa, Ahmed; Salem, Hatem

2017-10-01

This study aims to define the relative risk of development of hearing loss in offspring of consanguineous marriages. This is a retrospective case-control study conducted in a tertiary referral center in Jeddah, KSA. The study group included 1600 probands (848 males, 752 females), with age range 0.5-12 years (6.6 ± 3.6). The study group comprised of two equal, age and sex matched subgroups; Hearing Loss (HL) group and Normal Hearing (NH) group. The children included in the HL group should have idiopathic or non syndromic genetic sensorineural hearing loss. The HL Group comprised 800 children with variable degrees of sensorineural hearing loss. Profound and severe degrees of hearing loss were the most prevalent degrees (P marriage offspring in the NH group was 42.5%, while in the HL group it was 68.9% (P  0.05). The relative risk and 95% confidence interval (RR, 95% CI) for development of hearing loss in offspring of consanguineous marriage was 1.76 (95% CI 1.57-1.97, P marriage progeny to develop SNHL when compared to non consanguineous progeny. Copyright © 2017. Published by Elsevier B.V.

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 ...

Clinical and morphological characteristics of malformations in infants with congenital cytomegalovirus infection and congenital toxoplasmosis

Directory of Open Access Journals (Sweden)

L. Yu. Barycheva

2015-01-01

Full Text Available The results of following up infants with intrauterine infections and malformations were retrospectively analyzed. Infants with malformations were diagnosed as having congenital cytomegalovirus infection and congenital toxoplasmosis in 127 and 69 cases, respectively. The aim of the study was to characterize malformations in infants with congenital cytomegalovirus and congenital Toxoplasma infections. The infants with malformations in congenital cytomegalovirus infection were found to have higher mortality rates (61,4% than those with congenital toxoplasmosis (34,8%. Postmortem analysis indicated that there was a predominance of embryopathies in infants with congenital cytomegalovirus infection and that of fetopathies in those with congenital toxoplasmosis. The dead infants with congenital cytomegalovirus infection had more commonly developed visceral defects, including heart diseases, pneumopathies, gastrointestinal and genitourinary abnormalities; fetopathies of the central nervous system and eye were prevalent in congenital toxoplasmosis. The surviving children with congenital toxoplasmosis were more frequently observed to have disabling CNS and ocular sequels as obstructive hydrocephalus, infantile cerebral palsy, complete or partial blindness, and cerebrasthenic disorders than those with congenital cytomegalovirus infection. 

Mitochondrial disorders in congenital myopathies

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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.

Congenital Hypoglycemia Disorders: New Aspects of Etiology, Diagnosis, Treatment and Outcomes: Highlights of the Proceedings of the Congenital Hypoglycemia Disorders Symposium, Philadelphia April 2016.

Science.gov (United States)

De Leon, Diva D; Stanley, Charles A

2017-02-01

Hypoglycemia continues to be an important cause of morbidity in neonates and children. Prompt diagnosis and management of the underlying hypoglycemia disorder is critical for preventing brain damage and improving outcomes. Congenital hyperinsulinism (HI) is the most common and severe cause of persistent hypoglycemia in neonates and children. Recent discoveries of the genetic causes of HI have improved our understanding of the pathophysiology, but its management is complex and requires the integration of clinical, biochemical, molecular, and imaging findings to establish the appropriate treatment according to the subtype. Here we present a summary of a recent international symposium on congenital hypoglycemia disorders with emphasis on novel molecular mechanisms resulting in HI, genetic diagnosis, overall approach to management, novel therapies under development, and current outcomes. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Symptomatic Congenital Cytomegalovirus Infection in Children of Seropositive Women

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Ines Mack

2017-06-01

Full Text Available Cytomegalovirus (CMV is the most frequent congenital virus infection worldwide. The risk of congenital CMV (cCMV transmission is highest in seronegative women who acquire primary CMV infection during pregnancy. A growing body of evidence indicates that secondary CMV infections in pregnant women with preconceptual immunity (either through reactivation of latent virus or re-infection with a new strain of CMV contribute to a much greater proportion of symptomatic cCMV than was previously thought. Here, we describe a case of symptomatic cCMV infection in the newborn of a woman with proven immunity prior to pregnancy. Diagnosis was confirmed by CMV PCR from amniotic fluid and fetal MR imaging. The newborn presented with typical cCMV symptoms including jaundice, hepatosplenomegaly, cholestasis, petechiae, small head circumference, and sensorineural hearing loss, the most common neurologic sequela. CMV was detected in infant blood and urine by PCR, and intravenous ganciclovir was initiated and continued orally for 6 weeks totally. Apart from persisting right-sided deafness, the child exhibited normal neurological development up through the last follow-up at 4.5 years. To date, the most effective strategy to prevent vertical CMV transmission is hygiene counseling for women of childbearing age, which, in our case, and in concordance with recent literature, applies to seronegative, as well as seropositive, women. Once an expecting mother shows seroconversion or signs of an active CMV infection, there are no established procedures to reduce the risk of transmission, or therapeutic options for the fetus with signs of infection. After birth, symptomatic infants can be treated with ganciclovir to inhibit viral replication and improve hearing ability and neurodevelopmental outcome. A comprehensive review of the literature, including our case study, reveals the most current and significant diagnostic and treatment options available. In conclusion, the triad

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

Diabetes mellitus and sensorineural hearing loss: is there an association? Baseline of the Brazilian Longitudinal Study of Adult Health (ELSA-Brasil).

Science.gov (United States)

Samelli, Alessandra G; Santos, Itamar S; Moreira, Renata R; Rabelo, Camila M; Rolim, Laurie P; Bensenõr, Isabela J; Lotufo, Paulo A

2017-01-01

Although several studies have investigated the effects of diabetes on hearing loss, the relationship between these two conditions remains unclear. Some studies have suggested that diabetes may cause sensorineural hearing loss, whereas others have failed to find an association. The biggest challenge in investigating the association between diabetes and hearing loss is the presence of confounding variables and the complexity of the auditory system. Our study investigated the association between diabetes and sensorineural hearing loss. We evaluated the influence of time from diabetes diagnosis on this association after controlling for age, gender, and hypertension diagnosis and excluding those subjects with exposure to noise. This cross-sectional study evaluated 901 adult and elderly Brazilian Longitudinal Study of Adult Health (ELSA-Brasil) participants from São Paulo, Brazil who underwent audiometry testing as part of ELSA-Brasil's baseline assessment. Hearing thresholds and speech test results were significantly worse in the group with diabetes than in the group without diabetes. However, no significant differences were found between participants with and without diabetes after adjusting for age, gender, and the presence of hypertension. Hearing thresholds were not affected by occupational noise exposure in the groups with and without diabetes. In addition, no association between the duration of diabetes and hearing thresholds was observed after adjusting for age, gender, and hypertension. We found no association between the duration of diabetes and worse hearing thresholds after models were adjusted for age, gender, and the presence of hypertension.

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

Radiological Diagnosis of Recirculatory Congenital Heart Disease with Increased Pulmonary Blood Flow

International Nuclear Information System (INIS)

Bartusevichiene, A.; Rulevichius, A.; Dobrovolskis, K.R.

1995-01-01

The number of patients with congenital diseases is increasing therefore early diagnosis of these diseases is of crucial importance. Radiological diagnostics of recirculatory congenital heart disease with increased pulmonary blood flow, i.e. atrial septal defect (ASD), ventricle septal defect (VSD), ductus arteriosus (Botalli) persistence (DAP) and atrioventricular communication (AVC) have been analysed. Recirculatory congenital heart disease with increased pulmonary blood flow (ASD, VSD, DAP)radiologically causes similar lung, lung roots and pulmonary arterial changes. After the radiomorphological and radiofunctional examination of chest organs the following symptoms of the disease were defined: all the patients had hypervolemy, enlarged structural lungs roots, enlarged pulmonary arterial arch. These radiofunctional symptoms help to differentiate congenital heart diseases case by case. (author). 7 refs., 6 figs., 1 tab

Review Recent progress in identification and characterization of loci associated with sex-linked congenital cataract.

Science.gov (United States)

Zhang, D D; Du, J Z; Topolewski, J; Wang, X M

2016-07-29

Congenital cataract is a common cause of blindness in children; however, its pathogenesis remains unclear. Genetic factors have been shown to play an important role in the pathogenesis of congenital cataract. The current genetic models of congenital cataract include autosomal dominant, autosomal recessive, and sex-linked inheritance. Sex-linked congenital cataract could be inherited through the X or Y chromosome. Congenital cataract is a symptom associated with several X-linked disorders, including Nance-Horan syndrome, Lowe syndrome, Conradi-Hünermann-Happle syndrome, oculo-facio-cardio-dental syndrome, and Alport syndrome. On the other hand, the mechanism and characteristics of Y-linked congenital cataract remains to be identified. Despite its rarity, sex-linked congenital cataract has been known to seriously affect the quality of life of patients. In this review, we present our current understanding of the genes and loci associated with sex-linked congenital cataract. This could help identify novel approaches for the prevention, early diagnosis, and comprehensive disease treatment.

High frequency of congenital thrombophilia in women with pathological pregnancies?

DEFF Research Database (Denmark)

Rasmussen, Ase; Ravn, Pernille

2004-01-01

The obstetrical complications preeclampsia, intrauterine growth restriction (IUGR), placental abruption and fetal loss are major causes of maternal and fetal morbidity and mortality. Much recent research has focused on to what extent congenital thrombophilia contributes to these obstetrical...... congenital thrombophilia and preeclampsia, IUGR, placental abruption and fetal loss. In addition, the few published clinical trials of prophylactic antithrombotic treatment to prevent severe obstetrical complications in thrombophilic women are discussed. The studies have shown variable results evaluated...

Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D.

Science.gov (United States)

Bolz, H; von Brederlow, B; Ramírez, A; Bryda, E C; Kutsche, K; Nothwang, H G; Seeliger, M; del C-Salcedó Cabrera, M; Vila, M C; Molina, O P; Gal, A; Kubisch, C

2001-01-01

Usher syndrome type I (USH1) is an autosomal recessive disorder characterized by congenital sensorineural hearing loss, vestibular dysfunction and visual impairment due to early onset retinitis pigmentosa (RP). So far, six loci (USH1A-USH1F) have been mapped, but only two USH1 genes have been identified: MYO7A for USH1B and the gene encoding harmonin for USH1C. We identified a Cuban pedigree linked to the locus for Usher syndrome type 1D (MIM 601067) within the q2 region of chromosome 10). Affected individuals present with congenital deafness and a highly variable degree of retinal degeneration. Using a positional candidate approach, we identified a new member of the cadherin gene superfamily, CDH23. It encodes a protein of 3,354 amino acids with a single transmembrane domain and 27 cadherin repeats. In the Cuban family, we detected two different mutations: a severe course of the retinal disease was observed in individuals homozygous for what is probably a truncating splice-site mutation (c.4488G-->C), whereas mild RP is present in individuals carrying the homozygous missense mutation R1746Q. A variable expression of the retinal phenotype was seen in patients with a combination of both mutations. In addition, we identified two mutations, Delta M1281 and IVS51+5G-->A, in a German USH1 patient. Our data show that different mutations in CDH23 result in USH1D with a variable retinal phenotype. In an accompanying paper, it is shown that mutations in the mouse ortholog cause disorganization of inner ear stereocilia and deafness in the waltzer mouse.

Incidence of Congenital Heart Diseases Anomalies in Newborns with Oral Clefts, Zahedan, Iran

OpenAIRE

Noor Mohammad Noori; Alireza Teimouri; Tahereh Boryri; Sirous Risbaf Fakour; Fateme Shahramian

2016-01-01

Background Oral cleft is the most common orofacial congenital anomaly among live births. This anomaly at birth is one of the main causes of children disability and mortality.  Congenital heart disease (CHD) is one of the most common anomalies in oral clefts.  This study aimed to assess the incidence of congenital heart diseases anomalies in newborns with oral clefts. Materials and Methods This study performed on 48,692 live born to estimate incidence of oral clefts from 1 st December 2013 to ...

Congenital cytomegalovirus infection: contribution and best timing of prenatal MR imaging

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Cannie, Mieke M. [University Hospital Brugmann, Universite Libre de Bruxelles, Department of Radiology, Brussels (Belgium); UZ Brussel, Vrije Universiteit Brussel, Department of Radiology, Brussel (Belgium); Devlieger, Roland; Catte, Luc de; Valk, Elise van der [University Hospitals Leuven, Department of Obstetrics and Gynecology, Leuven (Belgium); Leyder, Mina; Foulon, Walter [UZ Brussel, Vrije Universiteit Brussel, Department of Obstetrics, Brussel (Belgium); Claus, Filip [University Hospitals Leuven, Department of Radiology, Leuven (Belgium); Onze-Lieve-Vrouw Hospital, Department of Radiology, Aalst (Belgium); Leus, Astrid [UZ Brussel, Vrije Universiteit Brussel, Department of Radiology, Brussel (Belgium); Cossey, Veerle [University Hospitals Leuven, Neonatal Intensive Care Unit, Leuven (Belgium); Foulon, Ina [UZ Brussel, Vrije Universiteit Brussel, Department of Otolaryngology - Head and Neck Surgery, Brussel (Belgium); Cos, Teresa; Jani, Jacques C. [University Hospital Brugmann, Universite Libre de Bruxelles, Department of Obstetrics and Gynecology, Brussels (Belgium); Bernaert, Anja [Sint-Augustinus Hospital, Department of Radiology, Antwerp (Belgium); Oyen, Raymond [University Hospitals Leuven, Department of Radiology, Leuven (Belgium)

2016-10-15

To predict sensorineural hearing loss (SNHL) and neurological impairment in congenital cytomegalovirus (cCMV) infection using MR imaging and define the best timing in pregnancy for prenatal assessment. In 121 patients with confirmed cCMV infection, brain features at MR imaging were respectively graded from 1 to 5: normal; isolated frontal/parieto-occipital hyperintensity; temporal periventricular hyperintensity; temporal/occipital cysts and/or intraventricular septa; migration disorders. Grading was correlated with postnatal SNHL and neurological impairment using regression analysis. In 51 fetuses with MR examinations at 26.9 and 33.0 weeks, the predictive value of SNHL and neurological impairment was compared using ROC curves. Postnatal follow-up showed SNHL in 18 infants and neurological impairment in 10. MR grading was predictive of SNHL and of neurological impairment (P < 0.001). In grade 1 or 2, none had SNHL and 1/74 had neurological impairment. The areas under ROC curves for prediction of postnatal SNHL and of neurological impairment from first and second MR examination were comparable. Our data suggest that in cCMV infection, prediction of SNHL and neurological impairment is feasible by fetal MR imaging with a high negative predictive value and can equally be done at 27 or 33 weeks of gestation. (orig.)

Congenital cytomegalovirus infection: contribution and best timing of prenatal MR imaging

International Nuclear Information System (INIS)

Cannie, Mieke M.; Devlieger, Roland; Catte, Luc de; Valk, Elise van der; Leyder, Mina; Foulon, Walter; Claus, Filip; Leus, Astrid; Cossey, Veerle; Foulon, Ina; Cos, Teresa; Jani, Jacques C.; Bernaert, Anja; Oyen, Raymond

2016-01-01

To predict sensorineural hearing loss (SNHL) and neurological impairment in congenital cytomegalovirus (cCMV) infection using MR imaging and define the best timing in pregnancy for prenatal assessment. In 121 patients with confirmed cCMV infection, brain features at MR imaging were respectively graded from 1 to 5: normal; isolated frontal/parieto-occipital hyperintensity; temporal periventricular hyperintensity; temporal/occipital cysts and/or intraventricular septa; migration disorders. Grading was correlated with postnatal SNHL and neurological impairment using regression analysis. In 51 fetuses with MR examinations at 26.9 and 33.0 weeks, the predictive value of SNHL and neurological impairment was compared using ROC curves. Postnatal follow-up showed SNHL in 18 infants and neurological impairment in 10. MR grading was predictive of SNHL and of neurological impairment (P < 0.001). In grade 1 or 2, none had SNHL and 1/74 had neurological impairment. The areas under ROC curves for prediction of postnatal SNHL and of neurological impairment from first and second MR examination were comparable. Our data suggest that in cCMV infection, prediction of SNHL and neurological impairment is feasible by fetal MR imaging with a high negative predictive value and can equally be done at 27 or 33 weeks of gestation. (orig.)

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.

Evaluation of very low birth weight (≤ 1,500 g) as a risk indicator for sensorineural hearing loss.

Science.gov (United States)

Borkoski-Barreiro, Silvia A; Falcón-González, Juan C; Limiñana-Cañal, José M; Ramos-Macías, Angel

2013-01-01

Hearing plays an essential role in the acquisition, development and maintenance of the properties of the speech and language. Birth weight is an indicator of biological maturation of the newborn. Premature newborns with very low birth weight (VLBW<1,500 g) constitute a group with the highest risk of sensorineural hearing loss. Our objective was to ascertain the degree of hearing loss, sensorineural hearing loss and presence of the association to other risk factors for hearing loss in VLBW infants included in the Universal Hearing Loss Screening Programme at the University Mother-Child Hospital of Gran Canaria (Spain) in the 2007-2010 period. This was a retrospective study of 364 infants with VLBW, measured by transient evoked otoacoustic emissions and auditory brainstem response. There were 112 newborn (30.8%) referred for auditory brainstem response. A diagnosis of hearing loss was given to 22 newborns (2.2%), 14 had conductive hearing loss and 8, sensorineural hearing loss (SNHL), of which 2 had bilateral profound hearing loss. The VLBW newborn presented the association to another risk factor in more than a quarter of the sample studied. All those diagnosed with SNHL were premature. The percentage of VLBW newborns diagnosed with hearing loss is higher than expected in the general population. All those diagnosed with SNHL were premature and presented one or 2 hearing risk factors associated with VLBW. Copyright © 2013 Elsevier España, S.L. All rights reserved.

Exploring risk perception and attitudes to miscarriage and congenital anomaly in rural Western Kenya.

Directory of Open Access Journals (Sweden)

Stephanie Dellicour

Full Text Available Understanding the socio-cultural context and perceptions of adverse pregnancy outcomes is important for informing the best approaches for public health programs. This article describes the perceptions, beliefs and health-seeking behaviours of women from rural western Kenya regarding congenital anomalies and miscarriages.Ten focus group discussions (FGDs were undertaken in a rural district in western Kenya in September 2010. The FGDs included separate groups consisting of adult women of childbearing age, adolescent girls, recently pregnant women, traditional birth attendants and mothers of children with a birth defect. Participants were selected purposively. A deductive thematic framework approach using the questions from the FGD guides was used to analyse the transcripts.There was substantial overlap between perceived causes of miscarriages and congenital anomalies and these were broadly categorized into two groups: biomedical and cultural. The biomedical causes included medications, illnesses, physical and emotional stresses, as well as hereditary causes. Cultural beliefs mostly related to the breaking of a taboo or not following cultural norms. Mothers were often stigmatised and blamed following miscarriage, or the birth of a child with a congenital anomaly. Often, women did not seek care following miscarriage unless there was a complication. Most reported that children with a congenital anomaly were neglected either because of lack of knowledge of where care could be sought or because these children brought shame to the family and were hidden from society.The local explanatory model of miscarriage and congenital anomalies covered many perceived causes within biomedical and cultural beliefs. Some of these fuelled stigmatisation and blame of the mother. Understanding of these beliefs, improving access to information about the possible causes of adverse outcomes, and greater collaboration between traditional healers and healthcare providers may

Shah-Waardenburg syndrome and PCWH associated with SOX10 mutations : A case report and review of the literature

NARCIS (Netherlands)

Verheij, Johanna B G M; Sival, Deborah A; van der Hoeven, Johannes H; Vos, Yvonne J; Meiners, Linda C; Brouwer, Oebele F; van Essen, Anthonie J

Shah-Waardenburg syndrome is a rare congenital disorder with variable clinical expression, characterised by aganglionosis of the rectosigmoid (Hirschsprung disease), and abnormal melanocyte migration, resulting in pigmentary abnormalities and sensorineural deafness (Waardenburg syndrome). Mutations

Jervell and Lange-Nielson Syndrome masquerading as intractable epilepsy

Directory of Open Access Journals (Sweden)

Jagdish P Goyal

2012-01-01

Full Text Available The long QT syndrome (LQTS is a cause of syncope and sudden death. Jervell and Lange-Nielson syndrome (JLNS is an uncommon form of LQTS, having autosomal recessive transmission, and is associated with congenital deafness. We report a case of JLNS in a child who presented to us with refractory epilepsy. The cardiac cause of seizures was suspected as the child was hypotensive and pulseless during the episode of seizures. The child was diagnosed as JLNS based on Schwartz diagnostic criteria for LQTS and congenital sensorineural deafness. The child responded well to β-blocker therapy. Antiepileptic drugs were stopped. The screening of family members with ECG revealed a QT interval more than required for diagnosis of LQTS but they were asymptomatic. All asymptomatic family members were also put on metoprolol. All of them showed great improvement with the reduction of the QT interval on ECG. The patient was doing well on immediate follow-up.

Maternal obesity and congenital heart defects: a population-based study123

Science.gov (United States)

Mills, James L; Troendle, James; Conley, Mary R; Carter, Tonia; Druschel, Charlotte M

2010-01-01

Background: Obesity affects almost one-third of pregnant women and causes many complications, including neural tube defects. It is not clear whether the risk of congenital heart defects, the most common malformations, is also increased. Objective: This study was conducted to determine whether obesity is associated with an increased risk of congenital heart defects. Design: A population-based, nested, case-control study was conducted in infants born with congenital heart defects and unaffected controls from the cohort of all births (n = 1,536,828) between 1993 and 2003 in New York State, excluding New York City. The type of congenital heart defect, maternal body mass index (BMI; in kg/m2), and other risk factors were obtained from the Congenital Malformations Registry and vital records. Mothers of 7392 congenital heart defect cases and 56,304 unaffected controls were studied. Results: All obese women (BMI ≥ 30) were significantly more likely than normal-weight women (BMI: 19–24.9) to have children with a congenital heart defect [odds ratio (OR): 1.15; 95% CI: 1.07, 1.23; P heart defects with increasing maternal obesity (P heart syndrome, aortic stenosis, pulmonic stenosis, and tetralogy of Fallot. Conclusions: Obese, but not overweight, women are at significantly increased risk of bearing children with a range of congenital heart defects, and the risk increases with increasing BMI. Weight reduction as a way to reduce risk should be investigated. PMID:20375192

Alternating Hypotropia with Pseudoptosis: A New Phenotype of Congenital Cranial Dysinnervation Disorder

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Fady Sedarous

2018-02-01

Full Text Available Congenital cranial dysinnervation disorders, also known as CCDDs, are characterized by aberrant innervation to extraocular and facial muscles resulting in unusual forms of incomitant strabismus. Anomalous innervation to extraocular muscles can result in a wide variety of phenotypes causing various clinical conditions such as Duane syndrome, congenital fibrosis of the extraocular muscles, and Möbius syndrome. We report a case of bilateral dysinnervation disorder causing atypical ocular movements in both eyes as the patient changes fixation from one eye to the other and from right gaze to left gaze that fits with the wider diagnosis of CCDDs.

Ethnic differences in congenital malformations in the Netherlands: analyses of a 5-year birth cohort

NARCIS (Netherlands)

Anthony, S.; Kateman, H.; Brand, R.; den Ouden, A. L.; Dorrepaal, C. A.; van der Pal-de Bruin, K. M.; Buitendijk, S. E.

2005-01-01

Congenital malformations are among the major causes of perinatal mortality and morbidity at present. Research into the ethnic diversity of congenital malformations can form a basis both for aetiological studies and for health care advice and planning. This study compared the overall prevalence of

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.

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 ...

Asymmetric hearing loss in a random population of patients with mild to moderate sensorineural hearing loss.

Science.gov (United States)

Segal, Nili; Shkolnik, Mark; Kochba, Anat; Segal, Avichai; Kraus, Mordechai

2007-01-01

We evaluated the correlation of asymmetric hearing loss, in a random population of patients with mild to moderate sensorineural hearing loss, to several clinical factors such as age, sex, handedness, and noise exposure. We randomly selected, from 8 hearing institutes in Israel, 429 patients with sensorineural hearing loss of at least 30 dB at one frequency and a speech reception threshold not exceeding 30 dB. Patients with middle ear disease or retrocochlear disorders were excluded. The results of audiometric examinations were compared binaurally and in relation to the selected factors. The left ear's hearing threshold level was significantly higher than that of the right ear at all frequencies except 1.0 kHz (p < .05). One hundred fifty patients (35%) had asymmetric hearing loss (more than 10 dB difference between ears). In most of the patients (85%) the binaural difference in hearing threshold level, at any frequency, was less than 20 dB. Age, handedness, and sex were not found to be correlated to asymmetric hearing loss. Noise exposure was found to be correlated to asymmetric hearing loss.

Underlying congenital heart disease in Nigerian children with ...

African Journals Online (AJOL)

Background: Pneumonia is a common cause of childhood morbidity and mortality globally. Some congenital heart disease(CHD) may predispose their sufferer to bronchopneumonia. Objective: To evaluate the contribution of CHD to pneumonia in children seen in a tertiary hospital. Methods: Over a year, consecutive ...

[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.

Prevalence and phenotypes of congenital myopathy due to α-actin 1 gene mutations

DEFF Research Database (Denmark)

Witting, Nanna; Werlauff, Ulla; Duno, Morten

2016-01-01

airway pressure. Limb flexor/extensor muscles and upper and lower extremities were affected equally. Pronounced neck flexor weakness was noted. CONCLUSIONS: Congenital myopathy caused by ACTA1 mutations is fatal in infancy in most cases. This study shows that the prevalence of α-actin myopathy in older...... patients with congenital myopathy is not negligible and that phenotypes can be quite mild....

DECIBEL study: Congenital cytomegalovirus infection in young children with permanent bilateral hearing impairment in the Netherlands

NARCIS (Netherlands)

Korver, A. M. H.; de Vries, J. J. C.; Konings, S.; de Jong, J. W.; Dekker, F. W.; Vossen, A. C. T. M.; Frijns, J. H. M.; Oudesluys-Murphy, A. M.; Wever, C. C.; Beers, M.; Soede, W.; Kant, S. G.; van den Akker-van Marle, M. E.; Rieffe, C.; Ens-Dokkum, M. H.; van Straaten, H. L. M.; Meuwese-Jongejeugd, J.; Elvers, B.; Loeber, G.; Maré, M. J.; Van Zanten, G. A.; Goedegebure, A.; Coster, F.; de Leeuw, M.; Dijkhuizen, J.; Scharloo, M.; Hoeben, D.; Rijpma, G.; Graef, W.; Linschoten, D.; Kuijper, J.; Hof, N. J.; Pans, D.; Jorritsma, F.; van Beurden, M.; ter Huurne, C. T.; Brienesse, P.; Koldewijn, G. J.; Letourneur, K. G.; Seekles, L.; Thijssen, A.; Lievense, A.; van Egdom-van der Wind, M.; Theunissen, S. C. P. M.; Mooij, S.

2009-01-01

A significant number of asymptomatic newborns infected with congenital cytomegalovirus (CMV) will present with permanent childhood hearing impairment (PCHI) during early childhood. To investigate the role of congenital CMV infection in causing PCHI in the Netherlands, and assess the efficacy of two

The Mechanism of Speech Processing in Congenital Amusia: Evidence from Mandarin Speakers

OpenAIRE

Liu, Fang; Jiang, Cunmei; Thompson, William Forde; Xu, Yi; Yang, Yufang; Stewart, Lauren

2012-01-01

Congenital amusia is a neuro-developmental disorder of pitch perception that causes severe problems with music processing but only subtle difficulties in speech processing. This study investigated speech processing in a group of Mandarin speakers with congenital amusia. Thirteen Mandarin amusics and thirteen matched controls participated in a set of tone and intonation perception tasks and two pitch threshold tasks. Compared with controls, amusics showed impaired performance on word discrimin...

Disease: H00712 [KEGG MEDICUS

Lifescience Database Archive (English)

Full Text Available is-deafness (KID) syndrome is a rare congenital ectodermal dysplasia affecting the skin, hearing and vision.... Cutaneous findings include red, thickened plaques with scaling that involve palms and soles. Sensorineural deafness or severe hearin

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 ...

Congenital orbital teratoma

OpenAIRE

Aiyub, Shereen; Chan, Weng Onn; Szetu, John; Sullivan, Laurence J; Pater, John; Cooper, Peter; Selva, Dinesh

2013-01-01

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 p...

Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: a clinical report and review of literature.

Science.gov (United States)

Narumi, Yoko; Nishina, Sachiko; Tokimitsu, Motoharu; Aoki, Yoko; Kosaki, Rika; Wakui, Keiko; Azuma, Noriyuki; Murata, Toshinori; Takada, Fumio; Fukushima, Yoshimitsu; Kosho, Tomoki

2014-05-01

Congenital cataracts are the most important cause of severe visual impairment in infants. Genetic factors contribute to the disease development and 29 genes are known to cause congenital cataracts. Identifying the genetic cause of congenital cataracts can be difficult because of genetic heterogeneity. V-maf avian musculoaponeurotic fibrosarcoma oncogene homolog (MAF) encodes a basic region/leucine zipper transcription factor that plays a key role as a regulator of embryonic lens fiber cell development. MAF mutations have been reported to cause juvenile-onset pulverulent cataract, microcornea, iris coloboma, and other anterior segment dysgenesis. We report on six patients in a family who have congenital cataracts were identified MAF mutation by whole exome sequencing (WES). The heterozygous MAF mutation Q303L detected in the present family occurs in a well conserved glutamine residue at the basic region of the DNA-binding domain. All affected members showed congenital cataracts. Three of the six members showed microcornea and one showed iris coloboma. Congenital cataracts with MAF mutation exhibited phenotypically variable cataracts within the family. Review of the patients with MAF mutations supports the notion that congenital cataracts caused by MAF mutations could be accompanied by microcornea and/or iris coloboma. WES is a useful tool for detecting disease-causing mutations in patients with genetically heterogeneous conditions. © 2014 Wiley Periodicals, Inc.

Congenital Malformations Associated with Maternal Diabetes

Directory of Open Access Journals (Sweden)

Chih-Ping Chen

2005-03-01

Full Text Available Maternal diabetes has toxic effects on the development of the embryo and significantly increases the risk of congenital malformations in humans. The incidence of fetal structural defects caused by maternal pregestational diabetes is three- to fourfold higher than that caused by non-diabetic pregnancy. The congenital malformations associated with diabetic pregnancy arise before the seventh gestational week. Diabetic embryopathy can affect any developing organ system, including the central nervous system (CNS (anencephaly, spina bifida, microcephaly, and holoprosencephaly, skeletal system (caudal regression syndrome, sacral agenesis, and limb defects, renal system (renal agenesis, hydronephrosis, and ureteric abnormalities, cardiovascular system (transposition of the great vessels, ventricular septal defects, atrial septal defects, coarctation of the aorta, cardiomyopathy, and single umbilical artery, and gastrointestinal system (duodenal atresia, anorectal atresia, and small left colon syndrome. Pregnant women with fetuses with diabetic embryopathy may have chronic or unrecognized hyperglycemia and elevated levels of glycerated hemoglobin. This review emphasizes the necessity to consider hyperglycemia-induced teratogenesis during genetic counseling of parents with prenatally detected fetal malformations. Successful preconception counseling for women with diabetes mellitus and metabolic control will reduce birth defects and maternal morbidity.

Prenatal diagnosis of congenital paraesophageal hiatal hernia

Directory of Open Access Journals (Sweden)

Min Jeng Cho

2018-05-01

Full Text Available Abstracts: Congenital paraesophageal hiatal hernia (CPEH is a rare condition. CPEH can cause important clinical problems such as gastric volvulus, hematemesis, vomiting, failure to thrive, and respiratory distress, it requires early diagnosis and prompt surgical treatment. In this paper, we describe a case of CPEH that was suspected in a prenatal ultrasound. Postnatal upper gastrointestinal contrast series confirmed a CPEH with intrathoracic gastric volvulus. An emergency operation was performed. The stomach was reduced, the hiatal defect was repaired by crural approximation, and a Nissen fundoplication was done. The prenatal diagnosis of CPEH is unusual, but prenatal detection is important because it allows planned neonatal surgery before the onset of complications and reduces long-term morbidity. Keywords: Congenital paraesophageal hiatal hernia, Antenatal diagnosis, Gastric volvulus

Congenital malformations according to etiology in newborns from the floricultural zone of Mexico state.

Science.gov (United States)

Castillo-Cadena, Julieta; Mejia-Sanchez, Fernando; López-Arriaga, Jerónimo Amado

2017-03-01

Birth defects are the number one cause of child mortality worldwide and in 2010 it was the second cause in Mexico. Congenital malformations are a public health issue, because they cause infant mortality, chronic disease and disability. The origin can be genetic, environmental or unknown causes. Among environmental contaminants, pesticides stand out. In this study, we determine the frequency and etiology of congenital malformations in newborns (NBs) of a floricultural community and we compare it with that in the urban community. For 18 months, the NBs were monitored at the Tenancingo General Hospital and the Mother and Child Gynecology and Obstetrics Hospital (IMIEM) in Toluca. The identification of these malformations was carried out in accordance with the WHO. In Tenancingo, 1149 NBs were viewed, where 20% had some kind of congenital malformations. While in the IMIEM, 5069 were reviewed and 6% had some malformation. According to the etiology, in Tenancingo, 69% were multifactorial, 28% were monogenetic and 2% were chromosomal. In the IMIEM, 47% were multifactorial, then 18.3% were monogenetic and 2.8% were chromosomal. There was a significant difference between the global frequency of malformations and the multifactorial etiology of both institutions. Our results show that congenital malformations in the NBs occurred more frequently in the floricultural zone and that because the percentage of multifactorial etiology is higher, it is likely there is an association with exposure to pesticides.

Underlying congenital heart disease in Nigerian children with ...

African Journals Online (AJOL)

EB

2013-09-03

Sep 3, 2013 ... Abstract. Background: Pneumonia is a common cause of childhood morbidity and mortality globally. Some congenital heart disease. (CHD) may predispose their sufferer to bronchopneumonia. Objective: To evaluate the contribution of CHD to pneumonia in children seen in a tertiary hospital. Methods: Over ...

NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

Science.gov (United States)

Shi, Hongjun; Enriquez, Annabelle; Rapadas, Melissa; Martin, Ella M M A; Wang, Roni; Moreau, Julie; Lim, Chai K; Szot, Justin O; Ip, Eddie; Hughes, James N; Sugimoto, Kotaro; Humphreys, David T; McInerney-Leo, Aideen M; Leo, Paul J; Maghzal, Ghassan J; Halliday, Jake; Smith, Janine; Colley, Alison; Mark, Paul R; Collins, Felicity; Sillence, David O; Winlaw, David S; Ho, Joshua W K; Guillemin, Gilles J; Brown, Matthew A; Kikuchi, Kazu; Thomas, Paul Q; Stocker, Roland; Giannoulatou, Eleni; Chapman, Gavin; Duncan, Emma L; Sparrow, Duncan B; Dunwoodie, Sally L

2017-08-10

Congenital malformations can be manifested as combinations of phenotypes that co-occur more often than expected by chance. In many such cases, it has proved difficult to identify a genetic cause. We sought the genetic cause of cardiac, vertebral, and renal defects, among others, in unrelated patients. We used genomic sequencing to identify potentially pathogenic gene variants in families in which a person had multiple congenital malformations. We tested the function of the variant by using assays of in vitro enzyme activity and by quantifying metabolites in patient plasma. We engineered mouse models with similar variants using the CRISPR (clustered regularly interspaced short palindromic repeats)-Cas9 system. Variants were identified in two genes that encode enzymes of the kynurenine pathway, 3-hydroxyanthranilic acid 3,4-dioxygenase (HAAO) and kynureninase (KYNU). Three patients carried homozygous variants predicting loss-of-function changes in the HAAO or KYNU proteins (HAAO p.D162*, HAAO p.W186*, or KYNU p.V57Efs*21). Another patient carried heterozygous KYNU variants (p.Y156* and p.F349Kfs*4). The mutant enzymes had greatly reduced activity in vitro. Nicotinamide adenine dinucleotide (NAD) is synthesized de novo from tryptophan through the kynurenine pathway. The patients had reduced levels of circulating NAD. Defects similar to those in the patients developed in the embryos of Haao-null or Kynu-null mice owing to NAD deficiency. In null mice, the prevention of NAD deficiency during gestation averted defects. Disruption of NAD synthesis caused a deficiency of NAD and congenital malformations in humans and mice. Niacin supplementation during gestation prevented the malformations in mice. (Funded by the National Health and Medical Research Council of Australia and others.).

Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4.

Science.gov (United States)

Coyle, B; Coffey, R; Armour, J A; Gausden, E; Hochberg, Z; Grossman, A; Britton, K; Pembrey, M; Reardon, W; Trembath, R

1996-04-01

Inherited causes account for about 50% of individuals presenting with childhood (prelingual) hearing loss, of which 70% are due to mutation in numerous single genes which impair auditory function alone (non-syndromic). The remainder are associated with other developmental anomalies termed syndromic deafness. Genes responsible for syndromic forms of hearing loss include the COL4A5 gene in Alport syndrome and the PAX3 and MITF genes in Waardenburg syndrome. Pendred syndrome is an autosomal recessive disorder associated with developmental abnormalities of the cochlea, sensorineural hearing loss and diffuse thyroid enlargement (goitre). Pendred syndrome is the most common syndromal form of deafness, yet the primary defect remains unknown. We have established a panel of 12 families with two or more affected individuals and used them to search for the location of the Pendred gene by linkage analysis. We excluded localization to four previously mapped nonsyndromic deafness loci but obtained conclusive evidence for linkage of the Pendred syndrome gene to microsatellite markers on chromosome 7q31 (D7S495 Zmax 7.32, Qmax = 0). This region contains a gene, DFNBL, for autosomal recessive non-syndromic sensorineural hearing loss. Multipoint analysis indicates that DFNB4 and Pendred syndrome co-localize to the same 5.5 centiMorgan (cM) interval flanked by D7S501 and D7S523. These data raise the possibility that Pendred syndrome is either allelic with DFNB4 or may represent an inherited contiguous gene disorder, not clinically manifest in the heterozygote.

A mismatch negativity study in Mandarin-speaking children with sensorineural hearing loss.

Science.gov (United States)

Fu, Mingfu; Wang, Liyan; Zhang, Mengchao; Yang, Ying; Sun, Xibin

2016-12-01

a) To examine the effects of sensorineural hearing loss on the discriminability of linguistic and non-linguistic stimuli at the cortical level, and b) to examine whether the cortical responses differ based on the chronological age at intervention, the degree of hearing loss, or the acoustic stimulation mode in children with severe and profound hearing loss. Mismatch negativity (MMN) responses were collected from 43 children with severe and profound bilateral sensorineural hearing loss, and 20 children with normal hearing (age: 3-6 years). In the non-verbal stimulation condition, pure tones with frequencies of 1 kHz and 1.1 kHz were used as the standard and the deviant respectively. In the verbal stimulation condition, the Chinese mandarin tokens/ba2/and/ba4/were used as the standard and the deviant respectively. Latency and amplitude of the MMN responses were collected and analyzed. Overall, children with hearing loss showed longer latencies and lower amplitudes of the MMN responses to both non-verbal and verbal stimulations. The latency of the verbal/ba2/-/ba4/pair was longer than that of the nonverbal 1 kHz-1.1 kHz pair in both groups of children. Children with hearing loss, especially those who received intervention after 2 years of age, showed substantial weakness in the neural responses to lexical tones and pure tones. Thus, the chronological age when the children receive hearing intervention may have an impact on the effectiveness of discriminating between verbal and non-verbal signals. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Comparing Life Quality Strategies and Emotion Regulation in People with Congenital and Non-Congenital Motor Disability

Directory of Open Access Journals (Sweden)

Seyedeh Zeynab Miraghaei

2017-10-01

Full Text Available Objective: The purpose of the present study was to compare emotion regulation strategies and life quality of people with congenital and non-congenital motor disabilities. Method: This study is a casual-comparative study and its population consisted of all people with congenital and non-congenital motor disability in Kahrizak Charity Foundation in Tehran in 2016. To conduct the study, available sampling method was used, and congenital and non-congenital disabled people were selected (200 people. To collect data, Cognitive Emotion Regulation Scale by Granovsky and life quality questionnaire were used. Research hypotheses were tested using multivariate analysis of variance. Results: The findings of this study showed that there is a significant difference between emotion regulation components in people with congenital and non-congenital disabilities (p<0.05. Also, according to the findings, a significant difference was observed between life quality dimensions (physical and mental health in people with congenital and non-congenital disabilities (p<0.05. Conclusion: According to the significant difference between two groups of subjects, necessary measures regarding consultation and psychotherapy should be taken into consideration to let people benefit from desirable mental health level.

Congenital abnormalities of the posterior fossa.

Science.gov (United States)

Bosemani, Thangamadhan; Orman, Gunes; Boltshauser, Eugen; Tekes, Aylin; Huisman, Thierry A G M; Poretti, Andrea

2015-01-01

The frequency and importance of the evaluation of the posterior fossa have increased significantly over the past 20 years owing to advances in neuroimaging. Nowadays, conventional and advanced neuroimaging techniques allow detailed evaluation of the complex anatomic structures within the posterior fossa. A wide spectrum of congenital abnormalities has been demonstrated, including malformations (anomalies due to an alteration of the primary developmental program caused by a genetic defect) and disruptions (anomalies due to the breakdown of a structure that had a normal developmental potential). Familiarity with the spectrum of congenital posterior fossa anomalies and their well-defined diagnostic criteria is crucial for optimal therapy, an accurate prognosis, and correct genetic counseling. The authors discuss the spectrum of posterior fossa malformations and disruptions, with emphasis on neuroimaging findings (including diagnostic criteria), neurologic presentation, systemic involvement, prognosis, and risk of recurrence. RSNA, 2015

Congenital bilateral perisylvian syndrome with pituitary hypoplasia and ectopic neurohypophysis

Energy Technology Data Exchange (ETDEWEB)

Yekeler, Ensar; Genchellac, Hakan; Dursun, Memduh; Acunas, Gulden [Istanbul Faculty of Medicine, Department of Radiology, Istanbul (Turkey); Ozmen, Meral [Istanbul Faculty of Medicine, Department of Paediatric Neurology, Istanbul (Turkey)

2004-11-01

Congenital bilateral perisylvian syndrome (CBPS) is a congenital neurological syndrome characterized by pseudobulbar palsy, cognitive deficits and bilateral perisylvian abnormalities observed on imaging. The described abnormality in CBPS is polymicrogyria located in the frontal, parietal, and/or occipital lobes. A few syndromes or abnormalities associated with this syndrome have been documented. Pituitary abnormalities are rare disorders. Association of CBPS with pituitary abnormalities has not been reported previously. In this case, a combination of bilateral perisylvian polymicrogyria with pituitary hypoplasia and ectopic neurohypophysis, caused by a possible single common insult, is presented. (orig.)

Congenital bilateral perisylvian syndrome with pituitary hypoplasia and ectopic neurohypophysis

International Nuclear Information System (INIS)

Yekeler, Ensar; Genchellac, Hakan; Dursun, Memduh; Acunas, Gulden; Ozmen, Meral

2004-01-01

Congenital bilateral perisylvian syndrome (CBPS) is a congenital neurological syndrome characterized by pseudobulbar palsy, cognitive deficits and bilateral perisylvian abnormalities observed on imaging. The described abnormality in CBPS is polymicrogyria located in the frontal, parietal, and/or occipital lobes. A few syndromes or abnormalities associated with this syndrome have been documented. Pituitary abnormalities are rare disorders. Association of CBPS with pituitary abnormalities has not been reported previously. In this case, a combination of bilateral perisylvian polymicrogyria with pituitary hypoplasia and ectopic neurohypophysis, caused by a possible single common insult, is presented. (orig.)

Congenital chylous ascites in infants: another presentation of intestinal malrotation.

Science.gov (United States)

Long, Li; Zhen, Chen; Yandong, Wei; Ning, Dong; Qi, Li; Qing, Gao

2018-03-01

The cause of the chylous ascites in infants isn't completely clear. The purpose of this study is to discuss our experience of recognition of intestinal malrotation as a cause of congenital chylous ascites in infants. Medical information of 10 infants with chylous ascites, who were admitted to the hospital between 2001 and 2014, was retrospective analyzed. Preoperatively, all patients underwent a period of conservative treatment. We found that nine of ten patients with intestinal malrotation, six of them underwent laparoscopic Ladd's procedure and three patients underwent open Ladd's procedure. The remaining one patient suffered from mesenteric lymph nodes rupture and laparoscopic resection was performed. The cylous ascites subsided in all patients after the surgery and no significant recurrence was encountered during follow-up time. Our study demonstrates that congenital chylous ascites could be caused by intestinal malrotation, causing the obstruction of the lymphatic flow in the mesenteric lymphatic channels. Ladd's procedure maybe a safe and effective treatment for infantile intractable chylous ascites. Treatment study. Level IV. Copyright © 2017 Elsevier Inc. All rights reserved.

Congenital Hypothyroidism and Goitre in Childhood

OpenAIRE

Davis, Albert J.; Curtis, Joseph

1990-01-01

The problems of congenital hypothyroidism and goitre are relatively common in childhood. The investigation and treatment of these disorders requires a knowledge of their various causes, appropriate investigation, and referral for specialist consultation as necessary, as well as involvement of the family physician in the monitoring of effectiveness of and compliance with treatment. Many of these disorders have life-long implications for the individual affected.

Key aspects congenital infection

Directory of Open Access Journals (Sweden)

Yu. V. Lobzin

2014-01-01

Full Text Available The key questions to solve the problem of congenital infection in the Russian Federation are: using in national practice over world accepted terminology adapted to the recommendations of the World Health Organization; representation of the modern concepts of an infectious process in the classification of congenital infections; scientific development and introducing in clinical practice the «standard case definitions», applied to different congenital infections; optimization of protocols and clinical guidelines for diagnosis, treatment and prevention of congenital infections; improvement a knowledge in the infectious disease for all  pecialists involved in the risk assessment of congenital infections, manage pregnancy and children. Based on our experience and analysis of publications, the authors suggest possible solutions.

Maternal and Congenital Toxoplasmosis, Currently Available and Novel Therapies in Horizon

Directory of Open Access Journals (Sweden)

Helieh S Oz

2014-07-01

Full Text Available Over one billion people worldwide are predicted to harbor Toxoplasma infection frequently with unknown lifelong health consequences. Toxoplasmosis is an important cause of foodborne, inflammatory illnesses, as well as congenital abnormalities. Ubiquitous Toxoplasma has a unique tropism for central nervous system with a mind bugging effect and is transmitted sexually through semen. Current available therapies are ineffective for persistent chronic disease and congenital toxoplasmosis or have severe side effects which may result in life threatening complications. There is an urgent need for safe and effective therapies to eliminate or treat this cosmopolitan infectious and inflammatory disease. This investigation will discuss pathogenesis of maternal and congenital toxoplasmosis, the current available therapies in practice, and the experimental therapeutic modalities for promising future trials.

Case Report: Congenital aganglionic megacolon in Nigerian adults ...

African Journals Online (AJOL)

Congenital aganglionic mega colon (Hirschsprung's disease) is a motor disorder in the gut, due to a defect in the craniocaudal migration of the neuroblast originating from the neural crest that occurs during the first twelve weeks of gestation, causing a functional intestinal obstruction, with its attendant complications, ...

Genetic studies in congenital anterior midline cervical cleft

DEFF Research Database (Denmark)

Jakobsen, L P; Pfeiffer, P; Andersen, M

2012-01-01

Congenital anterior midline cervical cleft (CAMCC) is a rare anomaly, with less than 100 cases reported. The cause of CAMCC is unknown, but genetic factors must be considered as part of the etiology. Three cases of CAMCC are presented. This is the first genetic study of isolated CAMCC. Conventional...

Genotype-phenotype associations in children with congenital hyperinsulinism

DEFF Research Database (Denmark)

Melikyan, Maria; Brusgaard, Klaus; Petraykina, Elena

Congenital hyperinsulinism (CHI) is a heterogeneous disease in terms of clinical presentation, genetics and histology. Mutations in eight genes are known to be a cause of CHI, of which ABCC8, KCNJ11 and GCK are among the most common. We investigated genotype-phenotype associations in a cohort...

Congenital symmastia revisited

DEFF Research Database (Denmark)

Sillesen, Nanna H; Hölmich, Lisbeth R; Siersen, Hans Erik

2012-01-01

Symmastia is defined as medial confluence of the breast. The term 'symmastia' is modified from Greek (syn meaning 'together', and mastos meaning 'breast') and was first presented by Spence et al. in 1983. Two forms of symmastia exist: an iatrogenic and a congenital version. Congenital symmastia...... is a rare condition in which web-like soft tissue traverses the sternum to connect the breasts medially. The literature on congenital symmastia is limited, few cases have been published, and knowledge about ideal treatment is still insufficient....

Congenital Intrahepatic Portosystemic Shunts

Energy Technology Data Exchange (ETDEWEB)

Lee, Woong Hee; Kim, Young Tong; Jou, Sung Shick; Shin, Hyeong Cheol [Soonchunhyang University, Asan (Korea, Republic of)

2008-12-15

Intrahepatic portosystemic shunts are an anomalous connection between the portal vein and hepatic vein/IVC, which may be either congenital or acquired secondary to liver cirrhosis or portal hypertension. Cases of congenital intrahepatic shunts are usually encountered in children and may spontaneously resolve. We report 5 cases of congenital intrahepatic portosystemic shunts in neonates and an adult

One-stage release of congenital constriction band in lower limb from new born to 3 years

OpenAIRE

Das, Sakti Prasad; Sahoo, PK; Mohanty, RN; Das, SK

2010-01-01

Background: Congenital constriction band is the most common cause of terminal congenital malformation of a limb and lymphoedema. Superficial bands do not need any treatment, but deeper bands are managed with excision and Z-plasty. The circumferential bands are released in two to three stages to prevent vascular compromise. The purpose of this study was to present the outcome of one-stage release. Materials and Methods: Nineteen children, 12 boys and 7 girls, with 24 congenital constriction...

Bilateral sudden sensorineural deafness with vertigo as the sole presenting symptoms of diabetes mellitus - a case report.

Science.gov (United States)

Misra, Vilas; Agarwal, C G; Bhatia, Naresh; Shukla, G K

2010-06-01

This Paper reports a late uncontrolled diabetic presenting to an otolaryngologist with sudden severe sensorineural hearing loss of immediate origin with vertigo and tinnitus as the symptoms. Appropriate investigative and treatment measure resulted in deterioration of hearing in the right ear and mild improvement of hearing in the left ear, with no recovery of imbalance.

Isolated congenital hepatic fibrosis associated with TMEM67 mutations

DEFF Research Database (Denmark)

Vogel, Ida; Ott, Peter; Lildballe, Dorte

2017-01-01

We report an otherwise healthy 32-year-old man with portal hypertension, variceal bleeding, and congenital hepatic fibrosis with ductal plate malformation. Genetic screening identified two TMEM67 mutations. Biallelic TMEM67 mutations are known to cause Joubert/Meckel syndrome or nephronopthisis...

Congenital Generalized Hypertrichosis Terminalis with Gingival Hyperplasia and a Coarse Face: a Case Report

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Kazandjieva Jana

2016-03-01

Full Text Available Congenital generalized hypertrichosis, in its most common form, is idiopathic. In the absence of underlying endocrine or metabolic disorders, congenital generalized hypertrichosis is rare in humans, affecting as few as one in a billion individuals and may be an isolated condition of the skin, or a component feature of other disorders or syndromes. Congenital generalized hypertrichosis terminalis is an extremely rare condition, a distinct subset of disorders with congenital hypertrichosis, presenting with excessive hair as the primary clinical feature. Congenital generalized hypertrichosis terminalis is characterized by universal excessive growth of pigmented terminal hair and often accompanied with gingival hyperplasia and/or a coarse face. Gingival hyperplasia may be delayed even until puberty. Its pathogenesis may be caused by one of the following mechanisms: conversion of vellus to terminal hairs and/or prolonged anagenetic stage, and/or increase in the number of hair follicles. Since the Middle Ages, less than 60 individuals with congenital hypertrichosis terminalis have been described, and, according to the most recent estimates, less than 40 cases were documented adequately and definitively in the literature. Recent articles identified congenital generalized hypertrichosis terminalis as a genomic disorder.

Congenital heart disease

Science.gov (United States)

Congenital heart disease (CHD) is a problem with the heart's structure and function that is present at birth. ... Fraser CD, Kane LC. Congenital heart disease. In: Townsend CM Jr, ... Sabiston Textbook of Surgery: The Biological Basis of Modern ...

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 ...

[Neonatal tumours and congenital malformations].

Science.gov (United States)

Berbel Tornero, O; Ortega García, J A; Ferrís i Tortajada, J; García Castell, J; Donat i Colomer, J; Soldin, O P; Fuster Soler, J L

2008-06-01

The association between pediatric cancer and congenital abnormalities is well known but, there is no exclusive data on the neonatal period and the underlying etiopathogenic mechanisms are unknown. First, to analyze the frequency of neonatal tumours associated with congenital abnormalities; and second, to comment on the likely etiopathogenic hypotheses of a relationship between neonatal tumours and congenital abnormalities. Historical series of neonatal tumours from La Fe University Children's Hospital in Valencia (Spain), from January 1990 to December 1999. Histological varieties of neonatal tumours and associated congenital abnormalities were described. A systematic review of the last 25 years was carried out using Medline, Cancerlit, Index Citation Science and Embase. The search profile used was the combination of "neonatal/congenital-tumors/cancer/neoplasms" and "congenital malformations/birth defects". 72 neonatal tumours were identified (2.8% of all pediatric cancers diagnosed in our hospital) and in 15 cases (20.8%) there was some associated malformation, disease or syndrome. The association between congenital abnormalities and neonatal tumours were: a) angiomas in three patients: two patients with congenital heart disease with a choanal stenosis, laryngomalacia; b) neuroblastomas in two patients: horseshoe kidney with vertebral anomalies and other with congenital heart disease; c) teratomas in two patients: one with cleft palate with vertebral anomalies and other with metatarsal varus; d) one tumour of the central nervous system with Bochdaleck hernia; e) heart tumours in four patients with tuberous sclerosis; f) acute leukaemia in one patient with Down syndrome and congenital heart disease; g) kidney tumour in one case with triventricular hydrocephaly, and h) adrenocortical tumour: hemihypertrophy. The publications included the tumours diagnosed in different pediatric periods and without unified criteria to classify the congenital abnormalities. Little data

The Indication of Surgical Treatment and Visual Rehabilitation in the Congenital Cataracts

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Uğur Keklikçi

2005-01-01

Full Text Available Congenital cataracts constitute an important part of blindness in childhood. It’s a curable disease which is one of the most common causes of blindness in childhood. Main treatment is surgical operation. Timing of surgery, appropriate and rapid post sur- gery visual rehabilitation have a major effect on prognosis. Surgery should be perfor-med as soon as possible after the diagnosis in order to prevent amblyopia.Visual rehabi- litation of congenital cataract includes optical correction and amblyopia treatment. The most effective treatment of amblyopia is occlusion therapy. In this article congenital cataracts were evaluated in the light of recent literature and the importance of the timing of surgery and visual rehabilitation were attempted to be emphasized.

Congenitally corrected transposition of great arteries with ischemic symptoms in middle age

International Nuclear Information System (INIS)

Zaidi, Syed M.; Al-Sharary, Mabrooke M.; Sajid, Najeb U.; Al-Khuwaitir, Tarig S.

2007-01-01

Congenitally corrected transposition of great arteries (CCTGA) is a rare congenital disease first described by Von Rokitansky in 1875. Transposition of the great arteries comprises 2.6-7.8% of all cases of congenital heart disease, and if uncorrected, is commonly fatal in first year of life. Patients with corrected transposition of the great arteries without associated defects may remain undiagnosed until adult life. Symptoms occur rarely before the fourth and fifth decades, when rhythm disturbance, left atrioventricular valve regurgitation and moderately impaired systemic ventricular function cause congestive cardiac failure. We report here a case of drug overdose with ischemic symptoms and CCTGA without associated anomalies in a 40-year-old male. (author)

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

Incidence of death from congenital toxoplasmosis in 0-4-year-old children in Japan.

Science.gov (United States)

Hoshino, Tatsuji; Kita, Masato; Imai, Yukihiro; Yamakawa, Masaru

2014-08-01

Congenital toxoplasmosis is caused by Toxoplasma gondii. The incidence of death due to congenital toxoplasmosis in Japan from 1974 to 2007 was calculated using the autopsy database of the Japanese Society of Pathology and vital statistics from the Ministry of Health, Labour and Welfare. Two neonatal deaths due to congenital toxoplasmosis were reported during that time. As there were 161,195 neonatal deaths during this period and 32,465 autopsies were performed, the yearly neonatal death from congenital toxoplasmosis was calculated as 2 × 161,195/32,465/34 = 0.29 and the autopsy rate as 32,465/161,195 = 0.2014 (20.14%). The calculated number of annual deaths in infants was 0.82 and in children aged 1-4 years it was 2.09; thus, although few, deaths from congenital toxoplasmosis do still occur in neonates, infants, and young children. Therefore, obstetricians and pediatricians should be aware of the potential for congenital toxoplasmosis, and pregnant women should make every effort to avoid T. gondii infection. © 2014 Japan Pediatric Society.

Early life environment and social determinants of cardiac health in children with congenital heart disease.

Science.gov (United States)

Wong, Peter; Denburg, Avram; Dave, Malini; Levin, Leo; Morinis, Julia Orkin; Suleman, Shazeen; Wong, Jonathan; Ford-Jones, Elizabeth; Moore, Aideen M

2018-04-01

Congenital heart disease is a significant cause of infant mortality. Epidemiology and social context play a crucial role in conditioning disease burden and modulating outcomes, while diagnosis and treatment remain resource intensive. This review will address the role of social demographics, environmental exposure, epigenetics and nutrition in the aetiology of congenital heart disease. We then discuss the determinant effect of social factors on the provision and outcomes of care for congenital heart disease and implications for practice. It is our hope that enhanced knowledge of the intersection of social determinants of health and congenital heart disease will facilitate effective preventative strategies at the individual and population levels to optimize heart health outcomes across the life course.

Isolated and syndromic forms of congenital anosmia

DEFF Research Database (Denmark)

Karstensen, H G; Tommerup, N

2012-01-01

. Despite a strong degree of heritability, no human disease-causing mutations have been identified. Anosmia is part of the clinical spectrum in various diseases, as seen in Kallmann syndrome, various ciliopathies and congenital insensitivity to pain. This review will focus on ICA through already published......Loss of smell (anosmia) is common in the general population and the frequency increases with age. A much smaller group have no memory of ever being able to smell and are classified as having isolated congenital anosmia (ICA). Families are rare, and tend to present in a dominant inheritance pattern...... families and cases as well as syndromes where anosmia is part of the clinical disease spectrum. Furthermore, olfactory signal transduction pathway genes and animal models may shed light on potential candidate genes and pathways involved in ICA....

The disease burden of congenital toxoplasmosis in Denmark, 2014

DEFF Research Database (Denmark)

Nissen, Ioanna; Jokelainen, Pikka; Stensvold, Christen Rune

2017-01-01

Congenital toxoplasmosis (CT) causes a substantial disease burden worldwide. The aim of this study was to estimate the disease burden of CT in Denmark, a developed country with free public healthcare and nationwide data available. Using data primarily from two public health surveillance programmes...

Congenital staphylococcal scalded skin syndrome in a premature infant

NARCIS (Netherlands)

Haveman, LM; Fleer, A; de Vries, LS; Gerards, LJ

2004-01-01

A case of congenital staphylococcal scalded skin syndrome (SSSS) with fatal outcome in a premature infant is reported. An intrauterine infection with Staphylococcus aureus was probably the cause for the fulminant course of the disease. Despite adequate antibiotic treatment, the infant died within 24

Infectious causes of microcephaly: epidemiology, pathogenesis, diagnosis, and management.

OpenAIRE

Devakumar, D; Bamford, A; Ferreira, MU; Broad, J; Rosch, RE; Groce, N; Breuer, J; Cardoso, MA; Copp, AJ; Alexandre, P; Rodrigues, LC; Abubakar, I

2017-01-01

Microcephaly is an important sign of neurological malformation and a predictor of future disability. The 2015-16 outbreak of Zika virus and congenital Zika infection brought the world's attention to links between Zika infection and microcephaly. However, Zika virus is only one of the infectious causes of microcephaly and, although the contexts in which they occur vary greatly, all are of concern. In this Review, we summarise important aspects of major congenital infections that can cause micr...

Congenital orbital teratoma.

Science.gov (United States)

Aiyub, Shereen; Chan, Wengonn; Szetu, John; Sullivan, Laurence J; Pater, John; Cooper, Peter; Selva, Dinesh

2013-12-01

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.

Congenital orbital teratoma

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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.

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 r...

Congenital constriction of the foramen of Monro

International Nuclear Information System (INIS)

Marions, O.; Boethius, J.

1986-01-01

We report two cases of hydrocephalus in adults. The radiological investigations and direct inspection during surgery in one of the cases indicate that the hydrocephalus is caused in both cases by a benign stricture in the region of the foramen of Monro and that this constriction is congenital. This origin of hydrocephalus has not been reported previously in adults. (orig.)

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....

Congenital Zika Virus Infection: Beyond Neonatal Microcephaly.

Science.gov (United States)

Melo, Adriana Suely de Oliveira; Aguiar, Renato Santana; Amorim, Melania Maria Ramos; Arruda, Monica B; Melo, Fabiana de Oliveira; Ribeiro, Suelem Taís Clementino; Batista, Alba Gean Medeiros; Ferreira, Thales; Dos Santos, Mayra Pereira; Sampaio, Virgínia Vilar; Moura, Sarah Rogéria Martins; Rabello, Luciana Portela; Gonzaga, Clarissa Emanuelle; Malinger, Gustavo; Ximenes, Renato; de Oliveira-Szejnfeld, Patricia Soares; Tovar-Moll, Fernanda; Chimelli, Leila; Silveira, Paola Paz; Delvechio, Rodrigo; Higa, Luiza; Campanati, Loraine; Nogueira, Rita M R; Filippis, Ana Maria Bispo; Szejnfeld, Jacob; Voloch, Carolina Moreira; Ferreira, Orlando C; Brindeiro, Rodrigo M; Tanuri, Amilcar

2016-12-01

Recent studies have reported an increase in the number of fetuses and neonates with microcephaly whose mothers were infected with the Zika virus (ZIKV) during pregnancy. To our knowledge, most reports to date have focused on select aspects of the maternal or fetal infection and fetal effects. To describe the prenatal evolution and perinatal outcomes of 11 neonates who had developmental abnormalities and neurological damage associated with ZIKV infection in Brazil. We observed 11 infants with congenital ZIKV infection from gestation to 6 months in the state of Paraíba, Brazil. Ten of 11 women included in this study presented with symptoms of ZIKV infection during the first half of pregnancy, and all 11 had laboratory evidence of the infection in several tissues by serology or polymerase chain reaction. Brain damage was confirmed through intrauterine ultrasonography and was complemented by magnetic resonance imaging. Histopathological analysis was performed on the placenta and brain tissue from infants who died. The ZIKV genome was investigated in several tissues and sequenced for further phylogenetic analysis. Description of the major lesions caused by ZIKV congenital infection. Of the 11 infants, 7 (63.6%) were female, and the median (SD) maternal age at delivery was 25 (6) years. Three of 11 neonates died, giving a perinatal mortality rate of 27.3%. The median (SD) cephalic perimeter at birth was 31 (3) cm, a value lower than the limit to consider a microcephaly case. In all patients, neurological impairments were identified, including microcephaly, a reduction in cerebral volume, ventriculomegaly, cerebellar hypoplasia, lissencephaly with hydrocephalus, and fetal akinesia deformation sequence (ie, arthrogryposis). Results of limited testing for other causes of microcephaly, such as genetic disorders and viral and bacterial infections, were negative, and the ZIKV genome was found in both maternal and neonatal tissues (eg, amniotic fluid, cord blood, placenta, and

Discordant clinical outcomes of congenital Zika virus infection in twin pregnancies

Directory of Open Access Journals (Sweden)

Vanessa van der Linden

Full Text Available ABSTRACT Congenital Zika syndrome is an emergent cause of a congenital infectious disorder, resulting in severe damage to the central nervous system and microcephaly. Despite advances in understanding the pathophysiology of the disease, we still do not know all the mechanisms enrolled in the vertical transmission of the virus. As has already been reported in other types of congenital infectious disorders in dizygotic twin pregnancies, it is possible that the virus affects only one of the fetuses. In this article, we report on two cases of twin pregnancies exposed to the Zika virus, but with only one of the fetuses affected with microcephaly and brain damage. This indicates the urgent need for more studies regarding the pathophysiology of viral infection and the mechanisms involved in the natural protection against the virus.

Mondini deformity in a case of Turner syndrome. A radiological finding.

Science.gov (United States)

Bodet Agustí, Eduard; Galido Ortego, Xavier; Ghani Martínez, Fares; García González, Begoña; Borràs Perera, Montserrat; Seara Gil, Angel

2012-01-01

Turner syndrome (TS) is the human being's most frequent sex chromosome abnormality. Progressive sensorineural hearing loss is documented in more than 50% of the women affected by this syndrome. Although Mondini defect is the cochlear congenital malformation most frequently identified in other polymalformative syndromes, it has rarely been reported in TS. We describe the case of a 32-year-old woman with TS who presented progressive sensorineural hearing loss. The computed tomography of the ears showed bilateral Mondini deformity. Copyright © 2010 Elsevier España, S.L. All rights reserved.

Burden and impact of congenital syndromes and comorbidities among adults with congenital heart disease.

Science.gov (United States)

Bracher, Isabelle; Padrutt, Maria; Bonassin, Francesca; Santos Lopes, Bruno; Gruner, Christiane; Stämpfli, Simon F; Oxenius, Angela; De Pasquale, Gabriella; Seeliger, Theresa; Lüscher, Thomas F; Attenhofer Jost, Christine; Greutmann, Matthias

2017-08-01

Our aim was to assess the overall burden of congenital syndromes and non-cardiac comorbidities among adults with congenital heart disease and to assess their impact on circumstances of living and outcomes. Within a cohort of 1725 adults with congenital heart defects (65% defects of moderate or great complexity) followed at a single tertiary care center, congenital syndromes and comorbidities were identified by chart review. Their association with arrhythmias, circumstances of living and survival was analyzed. Within the study cohort, 232 patients (13%) had a genetic syndrome, 51% at least one comorbidity and 23% ≥2 comorbidities. Most prevalent comorbidities were systemic arterial hypertension (11%), thyroid dysfunction (9%), psychiatric disorders (9%), neurologic disorders (7%), chronic lung disease (7%), and previous stroke (6%). In contrast to higher congenital heart defect complexity, the presence of comorbidities had no impact on living circumstances but patients with comorbidities were less likely to work full-time. Atrial arrhythmias were more common among patients with moderate/great disease complexity and those with comorbidities but were less common among patients with congenital syndromes (pCongenital syndromes and comorbidities are highly prevalent in adults with congenital heart disease followed at specialist centers and add to the overall complexity of care. The presence of these additional factors has an impact on living circumstances, is associated with arrhythmias and needs to be further explored as prognostic markers. Copyright © 2017 Elsevier B.V. All rights reserved.

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.

CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome

NARCIS (Netherlands)

Van Der Werf, Christine S.; Wabbersen, Tara D.; Hsiao, Nai-Hua; Paredes, Joana; Etchevers, Heather C.; Kroisel, Peter M.; Tibboel, Dick; Babarit, Candice; Schreiber, Richard A.; Hoffenberg, Edward J.; Vekemans, Michel; Zeder, Sirkka L.; Ceccherini, Isabella; Lyonnet, Stanislas; Ribeiro, Ana S.; Seruca, Raquel; Meerman, Gerard J. Te; van Ijzendoorn, Sven C. D.; Shepherd, Iain T.; Verheij, Joke B. G. M.; Hofstra, Robert M. W.

BACKGROUND & AIMS: Short-bowel syndrome usually results from surgical resection of the small intestine for diseases such as intestinal atresias, volvulus, and necrotizing enterocolitis. Patients with congenital short-bowel syndrome (CSBS) are born with a substantial shortening of the small

Small Bowel Obstruction due to Anomalous Congenital Bands in Children

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Basak Erginel

2016-01-01

Full Text Available Introduction. The aim of the study was to evaluate our children who are operated on for anomalous congenital band while increasing the awareness of this rare reason of intestinal obstruction in children which causes a diagnostic challenge. Patients and Methods. We retrospectively reviewed the records of fourteen children treated surgically for intestinal obstructions caused by anomalous congenital bands. Results. The bands were located between the following regions: the ascending colon and the mesentery of the terminal ileum in 4 patients, the jejunum and mesentery of the terminal ileum in 3 patients, the ileum and mesentery of the terminal ileum in 2 patients, the ligament of Treitz and mesentery of the jejunum in one patient, the ligament of Treitz and mesentery of the terminal ileum in one patient, duodenum and duodenum in one patient, the ileum and mesentery of the ileum in one patient, the jejunum and mesentery of the jejunum in one patient, and Meckel’s diverticulum and its ileal mesentery in one patient. Band excision was adequate in all of the patients except the two who received resection anastomosis for intestinal necrosis. Conclusion. Although congenital anomalous bands are rare, they should be considered in the differential diagnosis of patients with an intestinal obstruction.

Multiple congenital skeletal malformations in a lamb associated with ...

African Journals Online (AJOL)

Other malformations included patella absence, resulting in bowing of both fore and hind limbs with poorly developed muscles associated with these skeletal structure. Dystocia was believed to be a result of fetal monstrosity resulting in abnormal posture. The cause of the congenital malformations was not obvious ...

Congenital Leukemia in Down's syndrome

International Nuclear Information System (INIS)

Iqbal, W.; Khan, F.; Muzaffar, M.; Khan, U. A.; Rehman, M. U.; Khan, M. A.; Bari, A.

2006-01-01

Congenital Leukemia is a condition and often associated with fatal outcome/sup 1/. Most of the neonatal cases reported have acute non-lymphoblastic leukemia, in contrast to the predominance of acute lymphoblastic leukemia found in later childhood. congenital leukemia is occasionally associated with number of congenital anomalies and with chromosomal disorders such as Down's syndrome. Subtle cytogenetic abnormalities may occur more commonly in the affected infants and their parents, when studied with newer cytogenetic techniques/sup 2/. Inherent unstable hematopoieses resulting from chromosomal aberration in children with Downs's syndrome can present with transient myeloproliferative disorder, mimicking leukemia which undergoes spontaneous recovery/sup 3/. Only few cases of congenital leukemia with Downs syndrome, presented as congenital leukemia. (author)

Prevalence of congenital anomalies in newborns with congenital heart disease diagnosis

International Nuclear Information System (INIS)

Egbe, Alexander; Lee, Simon; Ho, Deborah; Uppu, Santosh; Srivastava, Shubhika

2014-01-01

There is a known association between congenital heart disease (CHD) and other congenital anomalies (CA). These associations have been altered by changes in prenatal factors in recent time. We reviewed the largest database of inpatient hospitalization information and analyzed the current association between common CHD diagnoses and other congenital anomalies. Case-control study design. We reviewed the Nationwide Inpatient Sample (NIS) database from 1998 to 2008 and identified all live births with CHD diagnosis (case) and live births without CHD diagnosis (control). We compared prevalence of associated congenital anomalies between the case and control groups. Our cohort consisted of 97,154 and 12,078,482 subjects in the case and control groups, respectively. In the CHD population, prevalence of non-syndromic congenital anomaly (NSCA), genetic syndrome (GS), and overall extra-cardiac congenital anomaly (CA) were 11.4, 2.2, and 13.6%, respectively. In the control group, prevalence of NSCA, GS, and CA were 6.7, 0.3, and 7.0%, respectively. NSCA (odds ratio (OR): 1.88, confidence interval (CI): 1.73-1.94), GS (OR 2.52, CI 2.44-2.61), and overall CA (OR: 2.01, CI: 1.97-2.14) were strongly associated with CHD. Prevalence of GS and multiple organ-system CA decreased significantly over the study period. This is the largest and most comprehensive population-based study evaluating association between CHD and extra-cardiac malformation (ECM) in newborns. There was significant decrease in prevalence of GS and multiple CA over the study period

Congenital heart defects and extracardiac malformations.

Science.gov (United States)

Rosa, Rosana Cardoso M; Rosa, Rafael Fabiano M; Zen, Paulo Ricardo G; Paskulin, Giorgio Adriano

2013-06-01

To review the association between congenital heart defects and extracardiac malformations. Scientific articles were searched in the Medline, Lilacs, and SciELO databases, using the descriptors "congenital heart disease," "congenital heart defects," "congenital cardiac malformations," "extracardiac defects," and "extracardiac malformations." All case series that specifically explored the association between congenital heart defects and extracardiac malformations were included. Congenital heart diseases are responsible for about 40% of birth defects, being one of the most common and severe malformations. Extracardiac malformations are observed in 7 to 50% of the patients with congenital heart disease, bringing a greater risk of comorbidity and mortality and increasing the risks related to heart surgery. Different studies have attempted to assess the presence of extracardiac abnormalities in patients with congenital heart disease. Among the changes described, those of the urinary tract are more often reported. However, no study has evaluated all patients in the same way. Extracardiac abnormalities are frequent among patients with congenital heart disease, and patients with these alterations may present an increased risk of morbimortality. Therefore, some authors have been discussing the importance and cost-effectiveness of screening these children for other malformations by complementary exams.

MicroRNAs in sensorineural diseases of the ear

Directory of Open Access Journals (Sweden)

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.

Identification of a Novel TECTA mutation in a Chinese DFNA8/12 family with prelingual progressive sensorineural hearing impairment.

Directory of Open Access Journals (Sweden)

Zhengyue Li

Full Text Available Tectorial membrane, an extracellular matrix of the cochlea, plays a crucial role in the transmission of sound to the sensory hair cells. Alpha-tectorin is the most important noncollagenous component of the tectorial membrane and the otolith membrane in the maculae of the vestibular system. Defects in TECTA, the gene encodes alpha-tectorin, are cause of both dominant (DFNA8/12 and recessive (DFNB21 forms of deafness. Here, we report a three-generation Chinese family characterized by prelingual progressive sensorineural hearing impairment. We mapped the disease locus to chromosome 11q23-24 region, overlapping with the DFNA8/12 locus. Sequencing of candidate gene TECTA revealed a heterozygous c.5945C>A substitution in exon 19, causing amino acid substitution of Ala to Asp at a conservative position 1982. The A1982D substitution is consistent with hearing loss in this Chinese family and has not been found in 200 random control chromosomes. To our knowledge, this is the first TECTA mutation identified in Chinese population. Our data provides additional molecular and clinical information for establishing a better genotype-phenotype understanding of DFNA8/12.

Congenital Heart Defects and CCHD

Science.gov (United States)

... and more. Stony Point, NY 10980 Close X Home > Complications & Loss > Birth defects & other health conditions > Congenital heart defects and ... in congenital heart defects. You have a family history of congenital heart ... syndrome or VCF. After birth Your baby may be tested for CCHD as ...

Neonatal goiter with congenital thyroid dysfunction in two infants diagnosed by MRI

Energy Technology Data Exchange (ETDEWEB)

Kondoh, Mutsuko [Department of Radiology, St. Marianna University, Seibu Hospital, Kanagawa (Japan); Department of Radiology, St. Marianna University School of Medicine, 2-16-1 Sugao, Miyamae-ku, Kawasaki, Kanagawa-ken 216-8511 (Japan); Miyazaki, Osamu; Imanishi, Yoshimasa; Hayakawa, Minako [Department of Radiology, St. Marianna University, Seibu Hospital, Kanagawa (Japan); Aikyou, Miho; Doi, Hiromi [Department of Pediatrics, St. Marianna University School of Medicine, Kanagawa (Japan)

2004-07-01

It is essential to diagnose thyroid dysfunction at an early stage because congenital hypothyroidism (CH) represents one of the most common preventable causes of delayed physical and psychological development, including mental retardation. US evaluates the shape of the thyroid gland. CT and scintigraphic examinations demonstrate iodine metabolism of the thyroid, but there is associated radiation exposure. We encountered two cases of congenital goiter, in which MRI was very helpful in confirming thyroid dysfunction and was very useful in making an accurate diagnosis. (orig.)

Neonatal goiter with congenital thyroid dysfunction in two infants diagnosed by MRI

International Nuclear Information System (INIS)

Kondoh, Mutsuko; Miyazaki, Osamu; Imanishi, Yoshimasa; Hayakawa, Minako; Aikyou, Miho; Doi, Hiromi

2004-01-01

It is essential to diagnose thyroid dysfunction at an early stage because congenital hypothyroidism (CH) represents one of the most common preventable causes of delayed physical and psychological development, including mental retardation. US evaluates the shape of the thyroid gland. CT and scintigraphic examinations demonstrate iodine metabolism of the thyroid, but there is associated radiation exposure. We encountered two cases of congenital goiter, in which MRI was very helpful in confirming thyroid dysfunction and was very useful in making an accurate diagnosis. (orig.)

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.

The Rate of Addiction in Parents of Children with Congenital Heart Disease Compared with Healthy Children

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Tahereh Boryri

2017-03-01

Full Text Available BackgroundCongenital heart diseases (CHD are the most common congenital anomaly in children and also the leading cause of mortality from congenital anomalies. Various factors including smoking, drinking alcohol and addiction play role in development of congenital heart diseases. This study was conducted with the aim of investigation of the prevalence of addiction in parents of children with congenital heart disease compared with healthy children.Materials and MethodsThis was a case-control study conducted on 320 children with congenital heart disease aged 6 months to 16 years and 320 healthy children as control group. Children referring to Ali Asghar hospital or who were hospitalized in Imam Ali Hospital were included in the study and their demographic characteristics and their parents were collected. Data were analyzed using SPSS 20.ResultsAverage age of diseased and healthy children was 4.08 ± 4.11 and 3.59 ± 2.36, respectively. The rate of addiction of father, mother and parents of children with congenital heart disease was higher than those of children in control group. The most common congenital heart disease was ventricular septal defect (VSD.ConclusionIn overall, this study showed addiction rate of parents in children with congenital heart disease was higher.

Two cases of congenital defects within transverse processes of lumbar spine

International Nuclear Information System (INIS)

Malawski, S.; Sokolski, B.

1993-01-01

Two cases of congenital defects of transverse processes of lumbar spine causing lumbalgia are described. The first one was produced by direct contact of the elongated processes with subsequent pseudoarthrosis. Hypertrophied processes caused stenosis around intervertebral foramen and irritated posterior neural branch in the second case. Surgical resection of the hypertrophied transverse processes has brought the cure. (author)

Bilateral sudden sensorineural deafness with vertigo as the sole presenting symptoms of diabetes mellitus — a case report

OpenAIRE

Misra, Vilas; Agarwal, C. G.; Bhatia, Naresh; Shukla, G. K.

2010-01-01

This Paper reports a late uncontrolled diabetic presenting to an otolaryngologist with sudden severe sensorineural hearing loss of immediate origin with vertigo and tinnitus as the symptoms. Appropriate investigative and treatment measure resulted in deterioration of hearing in the right ear and mild improvement of hearing in the left ear, with no recovery of imbalance.

A Comparison of Phonological Processing Skills of Children with Mild to Moderate Sensorineural Hearing Loss and Children with Dyslexia

Science.gov (United States)

Park, Jungjun; Lombardino, Linda J.

2012-01-01

Using the Comprehensive Test of Phonological Processes (Wagner, Torgesen, & Rashotte, 1999), the researchers compared strengths and weaknesses in phonological processing skills in three groups: 21 children with mild to moderate sensorineural hearing loss (MSNH group), 29 children with dyslexia, and 30 age-matched controls. The MSNH group showed…

Neonatal screening for treatable congenital disorders

International Nuclear Information System (INIS)

Charoensiriwatana, W.; Janejai, N.; Boonwanich, W.; Krasao, P.; Waiyasilp, S.

2001-01-01

Congenital hypothyroidism is a treatable disease if detected at the early stage of life. It is one of the most frequent cause of mental retardation in children. In 85 % of cases, congenital hypothyroidism is a consequence of thyroid disgenesis, in which the gland is either absent, located ectopically and/or severely reduced in size. Early detection and treatment with thyroid hormone supplement can significantly reduce mental damage. In 1996, Thailand initiated a neonatal screening programme for congenital hypothyroidism (CHT) and phenylketonuria (PKU), with the objective of bringing a better quality of life to people throughout the country, but especially in the remote areas. The programme involves implementing routine screening nationwide. The plan of action was designed with the goal of having public health service units throughout the country provide neonatal screening by year 2002 for the 1.2 million babies born per annum in Thailand. The government supported the programme by allocating a five-year budget of approximately US$15 million. The programme received additional assistance through technical support and human resource development from the International Atomic Energy Agency (IAEA) and the US Centers for Disease Control. This assistance promoted self-sustainability and strengthened the programme's technical base. The programme is on track. It is expected that by year 2002 all new born babies in Thailand will be screened for CHT and PKU

Intelligence Quotient (IQ) in Congenital Strabismus.

Science.gov (United States)

Bagheri, Abbas; Fallahi, Mohammad Reza; Tamannaifard, Shima; Vajebmonfared, Sara; Zonozian, Saideh

2013-04-01

To evaluate intelligence quotient (IQ) in patients with congenital strabismus. All patients with congenital strabismus scheduled for surgery were enrolled consecutively over a one year period in a cross-sectional study and were evaluated for verbal, performance and total IQ scores, and compared to the mean normal IQ of 100±15. During the study period, 109 patients with mean age of 18.4±10.5 (range, 4-63) years were included. Educational status in most patients (80%) was less than high-school. Most patients (80%) lived in urban areas and 46 patients (42.2%) had some degrees of unilateral or bilateral amblyopia. Mean verbal IQ was 87.2±19.6 (range, 45-127), performance IQ was 81±15.5 (range, 44-111) and total IQ was 83.5±18.3 (range, 40-120). Total IQ was significantly lower in comparison to the normal population (PIQ levels. Verbal IQ was insignificantly higher in myopes than emmetropes and hyperopes. IQ was better with vertical deviations and was higher in esotropes than exotropes; however, these differences were not statistically significant (P>0.05 for all comparisons). Patients with congenital strabismus in this study had lower mean IQ scores than the normal population which may be due to genetic background or acquired causes secondary to strabismus.

DNA methylation abnormalities in congenital heart disease.

Science.gov (United States)

Serra-Juhé, Clara; Cuscó, Ivon; Homs, Aïda; Flores, Raquel; Torán, Núria; Pérez-Jurado, Luis A

2015-01-01

Congenital heart defects represent the most common malformation at birth, occurring also in ∼50% of individuals with Down syndrome. Congenital heart defects are thought to have multifactorial etiology, but the main causes are largely unknown. We have explored the global methylation profile of fetal heart DNA in comparison to blood DNA from control subjects: an absolute correlation with the type of tissue was detected. Pathway analysis revealed a significant enrichment of differential methylation at genes related to muscle contraction and cardiomyopathies in the developing heart DNA. We have also searched for abnormal methylation profiles on developing heart-tissue DNA of syndromic and non-syndromic congenital heart defects. On average, 3 regions with aberrant methylation were detected per sample and 18 regions were found differentially methylated between groups. Several epimutations were detected in candidate genes involved in growth regulation, apoptosis and folate pathway. A likely pathogenic hypermethylation of several intragenic sites at the MSX1 gene, involved in outflow tract morphogenesis, was found in a fetus with isolated heart malformation. In addition, hypermethylation of the GATA4 gene was present in fetuses with Down syndrome with or without congenital heart defects, as well as in fetuses with isolated heart malformations. Expression deregulation of the abnormally methylated genes was detected. Our data indicate that epigenetic alterations of relevant genes are present in developing heart DNA in fetuses with both isolated and syndromic heart malformations. These epimutations likely contribute to the pathogenesis of the malformation by cis-acting effects on gene expression.

Cyanotic congenital heart disease and atherosclerosis.

Science.gov (United States)

Tarp, Julie Bjerre; Jensen, Annette Schophuus; Engstrøm, Thomas; Holstein-Rathlou, Niels-Henrik; Søndergaard, Lars

2017-06-01

Improved treatment options in paediatric cardiology and congenital heart surgery have resulted in an ageing population of patients with cyanotic congenital heart disease (CCHD). The risk of acquired heart disease such as atherosclerosis increases with age.Previous studies have speculated whether patients with CCHD are protected against atherosclerosis. Results have shown that the coronary arteries of patients with CCHD are free from plaques and stenosis. Decreased carotid intima-media thickness and low total plasma cholesterol may indicate a reduced risk of later development of atherosclerosis. However, the evidence is still sparse and questionable, and a reasonable explanation for the decreased risk of developing atherosclerosis in patients with CCHD is still missing.This review provides an overview of what is known about the prevalence and potential causes of the reduced risk of atherosclerosis in patients with CCHD. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

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...

Prevalence of Congenital Anomalies in Iran: A Systematic Review and Meta-analysis

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Salman Daliri

2018-05-01

Full Text Available Background: Congenital anomaly is a disturbance in fetal growth and development during pregnancy and is one of the main causes of morbidity and mortality in the first year of life. In addition, this anomaly causes a large waste of heath care resources. We aimed to determine the prevalence and proportion rates of different congenital anomalies in Iran via a systematic review and meta-analysis.Methods: The present study was performed to estimate the prevalence and proportion rates of different anomalies in Iran via a systematic review and meta-analysis. Therefore, all the studies performed in Iran between 2000 and 2016 were evaluated. For this purpose, Medlib, Scopus, Web of Science, PubMed, Cochrane Library, Science Direct, Google Scholar, Irandoc, Magiran, IranMedex, and SID databases were searched by two different expert individuals independently. For the qualification survey of the papers, the Strengthening the Reporting of Observational Studies in Epidemiology checklist was applied. Then, the extracted data were entered into STATA (ver.11.1 and analysed using statistical tests of stability and random effects models in meta-regression, a tool used in meta-analysis. The 95% confidence intervals were calculated by I-square models. Meta regression was introduced to explore the heterogeneities among studies.Results: Overall, 36 papers with a total sample size of 909,961 neonates were analysed. The total prevalence rate for congenital anomalies was 18/1000 live births, 23.2/1000 and 18/1000 for boys and girls, respectively. Moreover, 55.8% of all congenital anomalies pertained to boys. The greatest prevalence and proportion rates of congenital anomalies belonged to musculoskeletal disorders followed by urogenital anomalies (9.3/1000 [34%] and 5.7/1000 [20%], respectively, and the lowest figures belonged to chromosomal and respiratory system anomalies (0.8/1000 [6%] and 0.3/1000 [2%], respectively.Conclusion: According to the findings of this meta

Overview of Usher's Syndrome: Congenital Deafness and Progressive Loss of Vision

Science.gov (United States)

Vernon, McCay

1974-01-01

Usher's syndrome, a genetic condition causing congenital profound hearing loss and a progressive blindness due to retinitis pigmentosa, affects an estimated three to six percent of children in educational and rehabilitative programs for the hearing impaired. (Author)

General Concepts in Adult Congenital Heart Disease.

Science.gov (United States)

Mutluer, Ferit Onur; Çeliker, Alpay

2018-01-20

Congenital heart disease in adults (adult congenital heart disease) is a growing burden for healthcare systems. While infant mortality due to congenital heart disease in the last four decades decreased by almost 3-fold, adult congenital heart disease prevalence increased by more than 2-fold in United States. Adult congenital heart disease prevalence is expected to increase steadily until 2050 in projections. Adult congenital heart disease is a multifaceted problem with many dimensions. This manuscript aims to provide an overview of the common adult congenital heart diseases and summarize important points in management of these diseases with possible problems and complications that the patients and the physicians face.

General Concepts in Adult Congenital Heart Disease

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Ferit Onur Mutluer

2018-02-01

Full Text Available Congenital heart disease in adults (adult congenital heart disease is a growing burden for healthcare systems. While infant mortality due to congenital heart disease in the last four decades decreased by almost 3-fold, adult congenital heart disease prevalence increased by more than 2-fold in United States. Adult congenital heart disease prevalence is expected to increase steadily until 2050 in projections. Adult congenital heart disease is a multifaceted problem with many dimensions. This manuscript aims to provide an overview of the common adult congenital heart diseases and summarize important points in management of these diseases with possible problems and complications that the patients and the physicians face

Congenital Unilateral Hypoplasia of Depressor Anguli Oris

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Seckin O. Ulualp

2012-01-01

Full Text Available Objectives. Asymmetric facial appearance may originate from abnormalities of facial musculature or facial innervation. We describe clinical features of congenital hypoplasia of depressor anguli oris muscle in a child. Material and Methods. Chart of a 10-month-old female referred to a tertiary care pediatric hospital for assessment of facial paralysis was reviewed. Data included relevant history and physical examination, diagnostic work up, and management. Results. The child presented with asymmetric movement of lower lip since birth. Asymmetry of lower lip was more pronounced when she smiled and cried. Rest of the face movement was symmetric. On examination, the face appeared symmetric at rest. The child had inward deviation of right lower lip when she smiled. Facial nerve function, as determined by frowning/forehead, wrinkling, eye closure, nasolabial fold depth, and tearing, was symmetric. Magnetic resonance imaging of the temporal bones and internal auditory canals were within normal limits. Echocardiogram did not show cardiac abnormality. Auditory brainstem response showed no abnormality. Conclusions. Congenital hypoplasia of depressor anguli oris is a rare anomaly that causes asymmetric crying face. Pediatricians and otolaryngologists need to be cognizant of cardiac, head and neck, and central nervous system anomalies associated with congenital unilateral hypoplasia of depressor anguli oris.

The incidence of apparent congenital urogenital anomalies in North ...

African Journals Online (AJOL)

A. Bhat

2016-07-18

Jul 18, 2016 ... borns' birth weight and gestational age, the maternal age, parity and infertility treatment, ... has shown birth prevalence of congenital anomalies to vary sig- ... leading cause of fetal death, as well as of childhood and adult mor- ... Neonates ... dent factors predictive of reproductive disorders, with a p value.

A family of congenital hepatic fibrosis and atypical retinitis pigmentosa

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Sunil Pawar

2015-11-01

Full Text Available Congenital hepatic fibrosis is a rare cause of portal hypertension and esophageal varices in children. We report cases of siblings with biopsy proven congenital hepatic fibrosis and with atypical retinitis pigmentosa. They presented with repeated episodes of jaundice along with progressive decrease of vision in night. They had hepatosplenomegaly and portal hypertension with esophageal varices. One of the siblings had a large regenerating nodule replacing the entire right lobe of the liver and other one developed repeated hematemesis. This constellation of diagnosis belongs to the ciliopathy group of disorders. The spectrum of ciliopathy disorders has been evolving, and it varies from mild to severe manifestations.

Quality of Life and Hearing Eight Years After Sudden Sensorineural Hearing Loss.

Science.gov (United States)

Härkönen, Kati; Kivekäs, Ilkka; Rautiainen, Markus; Kotti, Voitto; Vasama, Juha-Pekka

2017-04-01

To explore long-term hearing results, quality of life (QoL), quality of hearing (QoH), work-related stress, tinnitus, and balance problems after idiopathic sudden sensorineural hearing loss (ISSNHL). Cross-sectional study. We reviewed the audiograms of 680 patients with unilateral ISSNHL on average 8 years after the hearing impairment, and then divided the patients into two study groups based on whether their ISSNHL had recovered to normal (pure tone average [PTA] ≤ 30 dB) or not (PTA > 30 dB). The inclusion criteria were a hearing threshold decrease of 30 dB or more in at least three contiguous frequencies occurring within 72 hours in the affected ear and normal hearing in the contralateral ear. Audiograms of 217 patients fulfilled the criteria. We reviewed their medical records; measured present QoL, QoH, and work-related stress with specific questionnaires; and updated the hearing status. Poor hearing outcome after ISSNHL was correlated with age, severity of hearing loss, and vertigo together with ISSNHL. Quality of life and QoH were statistically significantly better in patients with recovered hearing, and the patients had statistically significantly less tinnitus and balance problems. During the 8-year follow-up, the PTA of the affected ear deteriorated on average 7 dB, and healthy ear deteriorated 6 dB. Idiopathic sudden sensorineural hearing loss that failed to recover had a negative impact on long-term QoL and QoH. The hearing deteriorated as a function of age similarly both in the affected and the healthy ear, and there were no differences between the groups. The cumulative recurrence rate for ISSNHL was 3.5%. 4 Laryngoscope, 127:927-931, 2017. © 2016 The American Laryngological, Rhinological and Otological Society, Inc.

Adams-Oliver syndrome associated with cutis marmorata telangiectatica congenita and congenital cataract: a case report.

Science.gov (United States)

Fayol, Laurence; Garcia, Patricia; Denis, Danièle; Philip, Nicole; Simeoni, Umberto

2006-04-01

A female infant presented with Adams-Oliver syndrome (AOS), intrauterine growth retardation, severe cutis marmorata telangiectatica congenita, bilateral congenital cataract, and periventricular lesions. The here-reported association of bilateral congenital cataract with AOS is original. Adams-Oliver syndrome is a genetic defect that causes a vasculopathy and leads to a variety of phenotypes. This observation further supports the current understanding of the physiopathology of AOS.

Left-Sided Congenital Diaphragmatic Hernia with Multiple Congenital Cardiac Anomalies, Hernia Sac, and Microscopic Hepatic Heterotopia: A Case Report

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Maria Arafah

2011-01-01

Full Text Available Congenital diaphragmatic hernia is a common congenital anomaly of uncertain etiology. Its association with multiple congenital anomalies in various organs is well recognized and antenatal radiological evidence of congenital diaphragmatic hernia warrants thorough evaluation to detect other anomalies, some of which can be life threatening. Rarely, heterotopic hepatic tissue is identified in the hernia, a rare pathological finding, exhibiting more than one macroscopic and microscopic characteristics, and always associated with cardiac congenital anomalies. Herein, we report a case of left-sided microscopic heterotopic hepatic tissue in a congenital diaphragmatic hernia in an infant with multiple cardiac congenital anomalies, but with preserved pericardium.

Improvements in Speech Understanding With Wireless Binaural Broadband Digital Hearing Instruments in Adults With Sensorineural Hearing Loss

OpenAIRE

Kreisman, Brian M.; Mazevski, Annette G.; Schum, Donald J.; Sockalingam, Ravichandran

2010-01-01

This investigation examined whether speech intelligibility in noise can be improved using a new, binaural broadband hearing instrument system. Participants were 36 adults with symmetrical, sensorineural hearing loss (18 experienced hearing instrument users and 18 without prior experience). Participants were fit binaurally in a planned comparison, randomized crossover design study with binaural broadband hearing instruments and advanced digital hearing instruments. Following an adjustment peri...

Congenital Heart Information Network

Science.gov (United States)

... heart defects. Important Notice The Congenital Heart Information Network website is temporarily out of service. Please join ... and Uwe Baemayr for The Congenital Heart Information Network Exempt organization under Section 501(c)3. Copyright © ...

Auditory Steady-State Response Thresholds in Adults With Conductive and Mild to Moderate Sensorineural Hearing Loss

OpenAIRE

Hosseinabadi, Reza; Jafarzadeh, Sadegh

2014-01-01

Background: The Auditory steady state response (ASSR) provides a frequency-specific and automatic assessment of hearing sensitivity and is used in infants and difficult-to-test adults. Objectives: The aim of this study was to compare the ASSR thresholds among various types (normal, conductive, and sensorineural), degree (normal, mild, and moderate), and configuration (flat and sloping) of hearing sensitivity, and measuring the cutoff point between normal condition and hearing loss for differe...

Our experience in the treatment of idiopathic sensorineural hearing loss (ISNHL): Effect of combination therapy with HBO2 and vasodilator infusion therapy

Czech Academy of Sciences Publication Activity Database

Kratochvílová, B.; Profant, Oliver; Astl, J.; Holý, R.

2016-01-01

Roč. 43, č. 7 (2016), s. 771-780 ISSN 1066-2936 Institutional support: RVO:68378041 Keywords : idiopathic sensorineural hearing logs * vasodilator infusion * hyperbaric oxygen therapy Subject RIV: FH - Neurology Impact factor: 0.895, year: 2016

Early detection of congenital syphilis

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Nagalakshmi Chowdhary

2014-01-01

Full Text Available Late congenital syphilis is a very rare clinical entity, and its early diagnosis and treatment is essential. Dental findings often provide valuable evidence for the diagnosis of late congenital syphilis. It occurs due to the transmission of the disease from an infected mother to her fetus through placenta. This long forgotten disease continues to effect pregnant women resulting in perinatal morbidity and mortality. Congenital syphilis is a preventable disease, and its presence reflects a failure of prenatal care delivery system, as well as syphilis control programs. We are reporting a case of late congenital syphilis with only Hutchinson′s teeth.

Visual and Motor Deficits in Grown-up Mice with Congenital Zika Virus Infection

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Liyuan Cui

2017-06-01

Full Text Available Human infants with congenital Zika virus (ZIKV infection exhibit a range of symptoms including microcephaly, intracranial calcifications, macular atrophy and arthrogryposis. More importantly, prognosis data have lagged far behind the recent outbreak of ZIKV in 2015. In this work, we allow congenitally ZIKV-infected mice to grow into puberty. These mice exhibited motor incoordination and visual dysfunctions, which can be accounted by anatomical defects in the retina and cerebellar cortex. In contrary, anxiety level of the ZIKV-infected mice is normal. The spectrum of anatomical and behavioral deficits is consistent across different mice. Our data provided evidence that may help predict the public health burden in terms of prognosis of ZIKV-related congenital brain malformations in an animal model. Our study provided behavioral evaluation for the prognosis of congenital ZIKV infection and provides a platform for screening and evaluation of drugs candidates and treatment aiming at improving regeneration of infected neurons to prevent sequelae caused by ZIKV infection of fetus.

Prevalence and clinical aspects of CMV congenital Infection in a low-income population.

Science.gov (United States)

Marin, Lauro Juliano; Santos de Carvalho Cardoso, Emanuelle; Bispo Sousa, Sandra Mara; Debortoli de Carvalho, Luciana; Marques Filho, Marcílio F; Raiol, Mônica Regina; Gadelha, Sandra Rocha

2016-08-31

CMV is the most common cause of congenital infection in the whole world (0.2 to 2.2 %). That infection may be symptomatic or asymptomatic at birth and, although asymptomatic cases at birth are more common, some children may develop late sequelae, and require medical intervention. This study aimed to determine the prevalence of CMV congenital infections in children who were born in a public hospital in Ilhéus, Brazil, and to evaluate the clinical progression in infected newborns. CMV congenital infection was determined by detecting viral DNA through nested PCR. The viral DNA was detected in 25 newborns, showing a prevalence of 1.19 % (25/2100) of CMV congenital infection. In regards to the risk factors from mothers, only the variables: age of mothers (p = 0.003), number of children (p = 0.011), and use of medications (p CMV. Late symptoms can be mistaken for other diseases or even go unnoticed.

Genetics Home Reference: critical congenital heart disease

Science.gov (United States)

... Facebook Twitter Home Health Conditions Critical congenital heart disease Critical congenital heart disease Printable PDF Open All Close All ... for Disease Control and Prevention: Congenital Heart Defects Disease InfoSearch: Congenital Heart Defects KidsHealth from Nemours Lucile Packard Children's ...

[Acute sensorineural hearing loss at the Otorhinolaryngology Department of the General Hospital in Subotica 1991-1996].

Science.gov (United States)

Rakić, N

1999-01-01

Sudden sensorineural hearing loss is an acute hearing loss of a perceptive type, of unknown etiology, in most cases one-sided, or, a every sudden sensorineural deafness that occurs in the period of three days or less. Modern scientific literature points to three possible etiological factors: viral cochleitis, vascular lesion of the labyrinth and unrecognized rupture of the membranous labyrinth. The therapy for this disease is extremely various. There are dozens of reported different (or similar) healing protocols, including vasodilators, Hydroxyethyl starch, low molecular dextran, diuretics, defibrinogenation, fibrmolytic therapy, steroids, prostacyclin, oxygen therapy, hyperbaric oxygen therapy, vitamins, etc. The aim of the study was to recapitulate in brief modern views of etiology and therapy of the sudden sensorineural hearing loss, to analyze cases of this illness within the period of 1991-1996 in our Otorhinolaryngology Department and to compare these data with the same or similar data of other authors. In this study, medical records of patients admitted in the period of 1991-1996 in the Otorhinolaryngology Department of the Health Center in Subotica with a diagnosis of sudden sensorineural hearing loss were used. There were 53 patients with this diagnosis. All patients were treated in the hospital with infusions of rheoactive drugs. During the diagnostic procedure, all patients underwent a complete clinical otorhinolaryngologic examination, detailed anamnesis was taken, acoustic impedance tests (tympanometry) and tonal liminal audiometry were performed. Routine blood test was made (including complete blood picture, sedimentation rate, blood sugar) and a complete urine examination. Sometimes we demanded x-ray of the temporal bones (Schnller and Stenwers). A short increment sensitivity index (SISI) test and Carhart test were also made, if necessary. Function of the vestibular system was tested in cases when the vestibular symptoms were more strongly expressed

The accuracy of chest radiographs in the detection of congenital heart disease and in the diagnosis of specific congenital cardiac lesions

International Nuclear Information System (INIS)

Laya, Bernard F.; Goske, Marilyn J.; Morrison, Stuart; Reid, Janet R.; Swischuck, Leonard; Ey, Elizabeth H.; Murphy, Daniel J.; Lieber, Michael; Obuchowski, Nancy

2006-01-01

Congenital heart disease (CHD) is a significant cause of morbidity and mortality in pediatric patients. Traditional teaching holds that specific types of CHD can be diagnosed on the chest radiograph (CXR) through pattern recognition. To determine the accuracy of radiologists in detecting CHD on the CXR. This study was a blinded retrospective review of chest radiographs from 281 patients (<12 years) by five pediatric radiologists from three institutions. Thirteen groups were evaluated that included 12 categories of CHD and a control group of patients without heart disease. Radiographs were assessed for heart size, heart and mediastinal shape and vascularity. Clinical information, angiography, echocardiograms and surgery were used as the gold standard for definitive diagnosis. The average accuracy of the five readers in distinguishing normal from CHD patients was 78% (range of 72% to 82%). The overall measure of accuracy in distinguishing specific congenital cardiac lesions among 13 groups of patients was 71% (range of 63% to 79%). CXR alone is not diagnostic of specific cardiac lesions, with a low accuracy of only 71%. We believe that less emphasis should be placed on the use of radiographs alone in diagnosing specific congenital cardiac lesions. (orig.)

Congenital Anorectal Malformation Severity Does Not Predict Severity of Congenital Heart Defects

NARCIS (Netherlands)

Jonker, Jara E.; Liem, Eryn T.; Elzenga, Nynke J.; Molenbuur, Bouwe; Trzpis, Monika; Broens, Paul M. A.

2016-01-01

Objective To determine the prevalence of congenital heart defects (CHDs) in patients with mild or severe congenital anorectal malformations (CARMs), and whether all patients with CARM need pediatric cardiology screening. Study design We included 129 patients with CARM born between 2004 and 2013, and

A Novel Insertion Variant of CRYGD Is Associated with Congenital Nuclear Cataract in a Chinese Family.

Science.gov (United States)

Zhuang, Xiaotong; Wang, Lianqing; Song, Zixun; Xiao, Wei

2015-01-01

To investigate a novel insertion variant of CRYGD identified in a Chinese family with nuclear congenital cataract. A Chinese family with congenital nuclear cataract was recruited for the mutational screening of candidate genes by direct sequencing. Recombinant N-terminal Myc tagged wildtype or mutant CRYGD was expressed in HEK293T cells. The expression pattern, protein solubility and subcellular distribution were analyzed by western blotting and immunofluorescence. A novel insertion variant, c.451_452insGACT, in CRYGD was identified in the patients. It causes a frameshift and a premature termination of the polypeptide to become Y151*. A significantly reduced solubility was observed for this mutant. Unlike wildtype CRYGD, which existed mainly in the cytoplasm, Y151* was mis-located in the nucleus. We have identified a novel mutation, c.451_452insGACT, in CRYGD, which is associated with nuclear cataract. This is the first insertion mutation of CRYGD found to cause autosomal dominant congenital cataract. The mutant protein, with loss of solubility and localization to the nucleus, is hypothesized to be the major cause of cataract in these patients.

Common variation in ISL1 confers genetic susceptibility for human congenital heart disease.

Directory of Open Access Journals (Sweden)

Kristen N Stevens

Full Text Available Congenital heart disease (CHD is the most common birth abnormality and the etiology is unknown in the overwhelming majority of cases. ISLET1 (ISL1 is a transcription factor that marks cardiac progenitor cells and generates diverse multipotent cardiovascular cell lineages. The fundamental role of ISL1 in cardiac morphogenesis makes this an exceptional candidate gene to consider as a cause of complex congenital heart disease. We evaluated whether genetic variation in ISL1 fits the common variant-common disease hypothesis. A 2-stage case-control study examined 27 polymorphisms mapping to the ISL1 locus in 300 patients with complex congenital heart disease and 2,201 healthy pediatric controls. Eight genic and flanking ISL1 SNPs were significantly associated with complex congenital heart disease. A replication study analyzed these candidate SNPs in 1,044 new cases and 3,934 independent controls and confirmed that genetic variation in ISL1 is associated with risk of non-syndromic congenital heart disease. Our results demonstrate that two different ISL1 haplotypes contribute to risk of CHD in white and black/African American populations.

Early Diagnosis of Congenital Trypanosoma cruzi Infection, Using Shed Acute Phase Antigen, in Ushuaia, Tierra del Fuego, Argentina

Science.gov (United States)

Mallimaci, María Cristina; Sosa-Estani, Sergio; Russomando, Graciela; Sanchez, Zunilda; Sijvarger, Carina; Alvarez, Isabel Marcela; Barrionuevo, Lola; Lopez, Carlos; Segura, Elsa Leonor

2010-01-01

Chagas' disease, or American trypanosomiasis, is caused by the protozoan parasite Trypanasoma cruzi. It is estimated that 15,000 new cases of congenital T. cruzi transmission occur in the Americas each year. The aim of this study was to estimate the rate of congenital T. cruzi infection in infants born to infected women living in Ushuaia, Argentina, as well to assess a serologic test using Shed Acute Phase Antigen (SAPA) for a timely diagnosis of congenital infection. The rate of congenital infection among children in the study was 4.4% (3/68). Our results show that for infants younger than 30 days of age, matched blood samples from mother and infant were capable of identifying congenital transmission of infection using an enzyme-linked immunosorbent assay with SAPA. For infants older than 3 months, congenital infection could be ruled out using the same procedure. PMID:20064996

Congenital extrahepatic portosystemic shunts

Energy Technology Data Exchange (ETDEWEB)

Murray, Conor P.; Yoo, Shi-Joon; Babyn, Paul S. [Department of Diagnostic Imaging, Hospital for Sick Children, 555 University Avenue, M5G 1X8, Toronto, Ontario (Canada)

2003-09-01

A congenital extrahepatic portosystemic shunt (CEPS) is uncommon. A type 1 CEPS exists where there is absence of intrahepatic portal venous supply and a type 2 CEPS where this supply is preserved. The diagnosis of congenital portosystemic shunt is important because it may cause hepatic encephalopathy. To describe the clinical and imaging features of three children with CEPS and to review the cases in the published literature. The diagnostic imaging and medical records for three children with CEPS were retrieved and evaluated. An extensive literature search was performed. Including our cases, there are 61 reported cases of CEPS, 39 type 1 and 22 type 2. Type 1 occurs predominantly in females, while type 2 shows no significant sexual preponderance. The age at diagnosis ranges from 31 weeks of intrauterine life to 76 years. Both types of CEPS have a number of associations, the most common being nodular lesions of the liver (n=25), cardiac anomalies (n=19), portosystemic encephalopathy (n=10), polysplenia (n=9), biliary atresia (n=7), skeletal anomalies (n=5), and renal tract anomalies (n=4). MRI is recommended as an important means of diagnosing and classifying cases of CEPS and examining the associated cardiovascular and hepatic abnormalities. Screening for CEPS in patients born with polysplenia is suggested. (orig.)

Congenital extrahepatic portosystemic shunts

International Nuclear Information System (INIS)

Murray, Conor P.; Yoo, Shi-Joon; Babyn, Paul S.

2003-01-01

A congenital extrahepatic portosystemic shunt (CEPS) is uncommon. A type 1 CEPS exists where there is absence of intrahepatic portal venous supply and a type 2 CEPS where this supply is preserved. The diagnosis of congenital portosystemic shunt is important because it may cause hepatic encephalopathy. To describe the clinical and imaging features of three children with CEPS and to review the cases in the published literature. The diagnostic imaging and medical records for three children with CEPS were retrieved and evaluated. An extensive literature search was performed. Including our cases, there are 61 reported cases of CEPS, 39 type 1 and 22 type 2. Type 1 occurs predominantly in females, while type 2 shows no significant sexual preponderance. The age at diagnosis ranges from 31 weeks of intrauterine life to 76 years. Both types of CEPS have a number of associations, the most common being nodular lesions of the liver (n=25), cardiac anomalies (n=19), portosystemic encephalopathy (n=10), polysplenia (n=9), biliary atresia (n=7), skeletal anomalies (n=5), and renal tract anomalies (n=4). MRI is recommended as an important means of diagnosing and classifying cases of CEPS and examining the associated cardiovascular and hepatic abnormalities. Screening for CEPS in patients born with polysplenia is suggested. (orig.)

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

Magnetic resonance imaging of congenital heart disease at 0.3 T

International Nuclear Information System (INIS)

Malmgren, N.

1995-11-01

The aim of this study was to systematically evaluate the potential of static MR imaging in congenital heart disease. The diagnosis of vascular rings, causing significant respiratory morbidity, previously required invasive methods for diagnosis. In aberrant left pulmonary artery, an uncommon anomaly, MR imaging at 0.3 T provided complete anatomic information. Complex congenital heart malformation is a diagnostic challenge. MR imaging at 0.3 T was efficient in defining most of the components of complex disease. It is especially valuable for imaging of extracardiac structures, which can be difficult to evaluate using echocardiography. MR imaging is an important complement to echocardiography. Improved equipment with sophisticated dynamic applications using high magnetic field strength is now available. The anatomical evaluation of congenital heart anomalies is however still based on static images, and low field magnets will certainly be used even in the future. 141 refs, 11 figs, 8 tabs

Chromosomal investigations in patients with mental retardation and/or congenital malformations

Directory of Open Access Journals (Sweden)

Santos C.B.

2000-01-01

Full Text Available We investigated the chromosomal constitution of patients with mental retardation and/or congenital malformations in order to determine genetic causes for such disturbances. The GTG and CBG banding patterns were studied using phytohemagglutinin M-stimulated lymphocytes cultured from peripheral blood. Among 98 individuals with mental retardation and/or congenital malformations who were analyzed there were 12 cases of Down's syndrome, two of Edward's syndrome, one of Patau's syndrome, five of Turner's syndrome, two of Klinefelter's syndrome, one of "cri-du-chat" syndrome, one case of a balanced translocation between chromosomes 13 and 14, one case of a derivative chromosome and one of a marker chromosome. We found abnormal chromosomes in 26% of the patients, 82% of which were numerical abnormalities, with the remaining 18% being structural variants. We conclude that patients with mental retardation and/or congenital malformations should be routinely karyotyped.

Magnetic resonance imaging of congenital heart disease at 0.3 T

Energy Technology Data Exchange (ETDEWEB)

Malmgren, N

1995-11-01

The aim of this study was to systematically evaluate the potential of static MR imaging in congenital heart disease. The diagnosis of vascular rings, causing significant respiratory morbidity, previously required invasive methods for diagnosis. In aberrant left pulmonary artery, an uncommon anomaly, MR imaging at 0.3 T provided complete anatomic information. Complex congenital heart malformation is a diagnostic challenge. MR imaging at 0.3 T was efficient in defining most of the components of complex disease. It is especially valuable for imaging of extracardiac structures, which can be difficult to evaluate using echocardiography. MR imaging is an important complement to echocardiography. Improved equipment with sophisticated dynamic applications using high magnetic field strength is now available. The anatomical evaluation of congenital heart anomalies is however still based on static images, and low field magnets will certainly be used even in the future. 141 refs, 11 figs, 8 tabs.

A case of improved hearing with cochlear implantation in Gaucher disease type 1.

Science.gov (United States)

Endo, Shiori; Mizuta, Kunihiro; Yamatodani, Takashi; Nakanishi, Hiroshi; Hosokawa, Kumiko; Misawa, Kiyoshi; Hosokawa, Seiji; Mineta, Hiroyuki

2018-06-01

Gaucher disease is a lysosomal storage disorder that is caused by congenital defective function of the enzyme glucocerebrosidase. Glucocerebroside that is not hydrolyzed by glucocerebrosidase mainly accumulates in the reticular tissue. We describe a Japanese boy with Gaucher disease type 1 who developed bilateral profound sensorineural hearing loss within approximately 4years. We performed cochlear implantation initially on his right ear and again on his left ear 5 months later. The cochlear implants were successfully utilized with a speech discrimination score of 95% on a Japanese sentence recognition test. There are many reports of central hearing loss in Gaucher disease type 2 or 3. However, to the best of our knowledge, this is the first report of profound inner ear hearing loss with Gaucher disease. It also appears to be the first record of cochlear implantation for Gaucher disease. Cochlear implants may be useful for sensorineural hearing loss in patients with Gaucher disease without neurological symptoms other than hearing loss. Copyright © 2017 Elsevier B.V. All rights reserved.

[Trend of mortality of congenital malformation in children aged <5 years in Beijing, 2006-2015].

Science.gov (United States)

Wang, J; Li, D Y; Zhang, W X; Li, Y C; Wang, J

2017-01-10

Objective: To investigate the change in mortality of congenital malformation in children aged malformation in children aged malformation in the children s decreased from 1.909‰ in 2006 to 0.703‰ in 2015, the decrease rate was 63.17 % . The decrease rate was highest in neonates (71.50 % ) ( χ (2)=57.993, P 0.05), the mortality rates of congenital malformation in the children showed a downward trend in outer suburban area and suburban area ( χ (2) =40.637 and 50.646, P malformation decreased from 32.97 % in 2006 to 23.24 % in 2015, which mainly occurred in infancy and neonatal period ( χ (2)=9.395 and 4.354, P malformations and digestive tract abnormality didn' t decreased significantly ( P >0.05). In the leading causes of deaths from congenital malformation, the mortality of congenital heart disease, neural tube defects and digestive tract atresia decreased obviously ( χ (2)=70.868, 18.431 and 9.225, P 0.05). There was an obvious area specific difference between the deaths of congenital heart disease and the deaths of neural tube defects, the mortality was higher in outer suburbs than in suburban and urban area ( χ (2)=45.783 and 6.649, P malformation in Beijing has declined year by year, it is still the main cause of deaths in children under 5 years old, and the prevention and control of related diseases should be strengthened.

Clinical presentation and management of congenital ptosis

Directory of Open Access Journals (Sweden)

Marenco M

2017-02-01

Full Text Available Marco Marenco,1,* Ilaria Macchi,2,* Iacopo Macchi,3 Emilio Galassi,4 Mina Massaro-Giordano,5 Alessandro Lambiase1 1Department of Sense Organs, University of Rome “Sapienza”, 2Department of Ophthalmology, Campus Bio-Medico University of Rome, Rome, 3Department of Ophthalmology, University of Catania, Catania, 4Ophthalmic Clinic, Department of Ophthalmology, University of L’Aquila, L’Aquila, Italy; 5Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA, USA *These authors contributed equally to this work Abstract: Congenital ptosis is a rare condition characterized by lower positioning of the upper eyelid that is present at birth and is a clinical condition that is persistent if not treated. It may be unilateral or bilateral and may be associated with other ocular disorders or systemic conditions, including Marcus Gunn, Horner, and Duane syndromes. It is a benign condition but causes functional, cosmetic, and psychological problems in children. However, not all patients need to undergo surgery, and usually only patients at risk of amblyopia need a prompt surgical correction, while in other cases, surgery can be postponed. The grade of ptosis, the eyelid function, and the amblyopic risk are the parameters that affect the ophthalmologist’s decision on timing of surgery and the surgical technique to be used. In fact, there are several types of surgical techniques to correct a congenital ptosis, although very often more than one is needed to obtain an acceptable result. This paper reviews the causes of congenital ptosis and associated diseases. Particular emphasis is given to surgical management and different procedures available to correct the upper eyelid anomaly and avoid permanent damage to visual function. Keywords: ptosis, extraocular muscle development, neurologic dysfunction, surgical approach

Universal newborn screening for congenital CMV infection: what is the evidence of potential benefit?†

OpenAIRE

Cannon, Michael J.; Griffiths, Paul D.; Aston, Van; Rawlinson, William D.

2014-01-01

Congenital CMV infection is a leading cause of childhood disability. Many children born with congenital CMV infection are asymptomatic or have nonspecific symptoms and therefore are typically not diagnosed. A strategy of newborn CMV screening could allow for early detection and intervention to improve clinical outcomes. Interventions might include antiviral drugs or nonpharmaceutical therapies such as speech-language therapy or cochlear implants. Using published data from developed countries,...

Congenital diaphragmatic hernia with gastrointestinal symptomatology

International Nuclear Information System (INIS)

Siroka, M.; Bilicky, J.; Hernesniemi, B.

2014-01-01

The authors report a case of 6-week-old baby boy with congenital diaphragmatic hernia(CDH). He presented with nonspecific gastrointestinal symptoms. CDH is commonly manifested by nonspecific respiratory problems. The symptoms of CDH in older infants are atypical and misleading. Children may have only gastrointestinal problems even the acute abdomen. In our case, the ultrasound examination of abdomen did not detect the exact cause of vomiting and intolerance of oral intake, but the explanation has brought classic chest X-ray. (author)

Congenital pouch colon: Increasing association with low anorectal anomalies

Directory of Open Access Journals (Sweden)

Pavai Arunachalam

2009-01-01

Full Text Available Three cases of type IV congenital pouch colon associated with low anorectal anomaly are reported here. Pouch colon may be a cause of intractable constipation in children operated for low anorectal anomaly. Excellent results can be obtained by exicision of the pouch. The radiological and pathological features of this condition are discussed.

Fetal chromosome abnormalities and congenital malformations: an ...

African Journals Online (AJOL)

The results also showed that Multiple congenital anomalies (MCA) represented among 42.2%, congenital malformation of CNS represents 26.6%, congenital malformation of the skeletal system 20%, congenital polycystic kidney 8.8% and pyloric stenosis in 2.2%. Among the 21 women with abnormal karyotype of amniotic ...

Hennekam syndrome presenting as nonimmune hydrops fetalis, congenital chylothorax, and congenital pulmonary lymphangiectasia

NARCIS (Netherlands)

Bellini, Carlo; Mazzella, Massimo; Arioni, Cesare; Campisi, Corradino; Taddei, Gioconda; Tomà, Paolo; Boccardo, Francesco; Hennekam, Raoul C.; Serra, Giovanni

2003-01-01

We report a female infant with congenital lymphedema, facial anomalies, intestinal lymphangiectasia consistent with a diagnosis of Hennekam syndrome. At birth the patient presented with severe respiratory distress due to nonimmune hydrops fetalis, a congenital chylothorax (CC), and pulmonary

Screening of newborns for congenital hypothyroidism. Guidance for developing programmes

International Nuclear Information System (INIS)

2005-12-01

Congenital hypothyroidism is a condition that, if left untreated, can cause lifelong human suffering as a result of severe mental retardation and deficiency of growth. With the involvement of the IAEA, screening programmes to detect congenital hypothyroidism in newborn infants have been introduced successfully in a large number of countries. The cornerstone of these programmes is accurate and reliable screening methods involving isotope techniques and simple medical treatment. The suffering - and heavy social and economic burden - caused by congenital hypothyroidism prompted many countries to institute a formalized screening programme directed at newborns, just as a vaccination programme has become an integral part of child health care. In many other countries however, this type of formalized service has not yet been established. For these countries, the implementation of a neonatal screening programme will bring about a considerable improvement in child health care. It is hoped that the guidance in this publication will be especially useful to the signatories of the United Nations Convention on the Rights of the Child. Several factors that prevail in a country - the climate, political environment, economic development, level of health care and the transportation system - have an influence on the overall operational systems, design and implementation of a screening programme. As such, the design of such a programme will differ greatly from country to country. Nevertheless, neonatal screening programmes have many elements in common. This book draws on the IAEA's experience in this area over more than a decade, and on the results of a regional technical cooperation programme on neonatal screening for congenital hypothyroidism in East Asia (IAEA Project RAS6032). This publication provides guidance aimed specifically at implementing and sustaining programmes for the screening of newborn infants

Tail-like Congenital Duplication of Lower Extremity (Extra Leg or ...

African Journals Online (AJOL)

2018-01-01

Jan 1, 2018 ... ABSTRACT. BACKGROUND: Congenital duplication of lower extremity, either complete or incomplete is extremely rare. Only 26 cases had been reported till 2010, of which only 5 cases had feature of complete duplication. Theories have been proposed that the cause of this abnormality includes maternal ...

Anaesthesia for the child with congenital heart disease: pointers and ...

African Journals Online (AJOL)

Increased pulmonary blood flow (PBF) causes a volume or pressure overload to the ... venous drainage (TAPVD), high left atrial pressure (e.g. hypoplastic left heart ... function. Congenital heart disease (CHD) is the commonest birth defect, with a reported .... Is there valve regurgitation? ... tubing to avoid systemic air emboli.

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)

Corpuscular radiation and congenital anomalies

International Nuclear Information System (INIS)

Sato, Shinji; Yajima, Akira

1983-01-01

Many explorations have been done by our antecessors to find out about the congenital anomalies which might be caused by X-ray or γ-ray and experimental teratological researches have also been done, with some results. However, there have been less systematic studies on corpuscular radiation. Neutron ray is a radioactive ray no electrically-charged equally as photon (X-ray, γ-ray). With an equal dosage of it as photon's, its localized energy is high so that it is different in RBE, OER, etc. In heavy charged particle (proton ray, He ion, Ne ion, π-meson ray), there is the characteristic that the energy increases at around the deepest spot within the range rather than at the point of injection into a system, which is called Bragg peak. The type and energy of this radiation reflected in the uniqueness in energy distribution, in ionization density and in LET makes it the most important radioactive biological parameter. At this paper, we shall review the types of radioactive rays and discuss the congenital anomalies (teratogenecity) including the experimental results obtained by application of our proton ray. (author)

Congenital nystagmus and negative electroretinography

Directory of Open Access Journals (Sweden)

Roussi M

2011-04-01

Full Text Available Mirella Roussi, Hélène Dalens, Jean Jacques Marcellier, Franck BacinDepartment of Ophthalmology, Clermont-Ferrand University, Clermont-Ferrand, FranceAbstract: Congenital nystagmus is a pathologic oculomotor state appearing at about three to four months of age. The precise diagnosis requires detailed clinical examination and electrophysiological findings. This case report presents two male patients with congenital nystagmus examined longitudinally from the age of six months until 17-18 years of age. Clinical and electrophysiological protocols were detailed. The first results showed electronegative electroretinography in the two cases and examination combined with electroretinographic findings helped us to make the diagnosis of Congenital Night Stationary Blindness (CSNB. This diagnosis was confirmed by genetic studies. CSNB is interesting to study because through electrophysiological findings, it enables a better understanding of the physiology of neural transmission in the outer part of the retina.Keywords: Congenital nystagmus, negative electroretinography, congenital night stationary blindness

Sensorineural hearing loss among cerebellopontine-angle tumor patients examined with pure tone audiometry and brainstem-evoked response audiometry

Science.gov (United States)

Rinindra, A. M.; Zizlavsky, S.; Bashiruddin, J.; Aman, R. A.; Wulani, V.; Bardosono, S.

2017-08-01

Tumor in the cerebellopontine angle (CPA) accurs for approximately 5-10% of all intracranial tumors, where unilateral hearing loss and tinnitus are the most frequent symptoms. This study aimed to collect data on sensorineural hearing loss in CPA tumor patients in Dr. Cipto Mangunkusumo Hospital (CMH) using pure tone audiometry and brainstem-evoked response audiometry (BERA). It also aimed to obtaine data on CPA-tumor imaging through magnetic resonance imaging (MRI). This was a descriptive, analytic, and cross-sectional study. The subjects of this study were gathered using a total sampling method from secondary data between July 2012 and November 2016. From 104 patients, 30 matched the inclusion criteria. The CPA-tumor patients in the ENT CMH outpatient clinic were mostly female, middle-aged patients (41-60 years) whose clinical presentation was mostly tinnitus and severe, asymmetric sensorineural hearing loss in 10 subjects. From 30 subjects, 29 showed ipsilaterally impaired BERA results, and 17 subjects showed contralaterally impaired BERA results. There were 24 subjects who with large-sized tumors and 19 subjects who had intracanal tumors that had spread until they were extracanal in 19 subjects.

Maxillary Hypoplasia With Congenital Oligodontia Treated by Maxillary Distraction Osteogenesis.

Science.gov (United States)

Mishima, Sayaka; Yamaguchi, Takako; Watanabe, Takuma; Komatani, Toru; Nakao, Kazumasa; Takahashi, Katsu; Bessho, Kazuhisa

2018-02-27

It is known that congenitally missing teeth can often cause differences in craniofacial morphology; however, there are few reported cases of orthognathic surgical treatment for these patients. Herein, the authors report a rare case of maxillary hypoplasia with congenital oligodontia treated by maxillary distraction osteogenesis with internal device. A 17-year-old male presenting with multiple tooth agenesis and maxillary recession was referred to our hospital for orthognathic surgical treatment. Preoperative simulation surgery was performed using Full-Color 3-dimensional salt model. After surgery, improvement in maxillary recession and occlusal stability was observed. This report demonstrates the advantages of the method used herein, which includes reduction in operating time with increase in the safety of the procedure.

Histone methylations in heart development, congenital and adult heart diseases.

Science.gov (United States)

Zhang, Qing-Jun; Liu, Zhi-Ping

2015-01-01

Heart development comprises myocyte specification, differentiation and cardiac morphogenesis. These processes are regulated by a group of core cardiac transcription factors in a coordinated temporal and spatial manner. Histone methylation is an emerging epigenetic mechanism for regulating gene transcription. Interplay among cardiac transcription factors and histone lysine modifiers plays important role in heart development. Aberrant expression and mutation of the histone lysine modifiers during development and in adult life can cause either embryonic lethality or congenital heart diseases, and influences the response of adult hearts to pathological stresses. In this review, we describe current body of literature on the role of several common histone methylations and their modifying enzymes in heart development, congenital and adult heart diseases.

Congenital lobar emphysema in neonates: Anaesthetic challenges

Directory of Open Access Journals (Sweden)

Mridu Paban Nath

2011-01-01

Full Text Available Congenital lobar emphysema (CLE is a potentially reversible, though possibly life-threatening, cause of respiratory distress in the neonate. It poses dilemma in diagnosis and management. We are presenting a 6-week-old baby who presented with a sudden onset of respiratory distress related to CLE affecting the left upper lobe. Lobectomy was performed under general anaesthesia with one lung ventilation. The details of anaesthetic challenges and management are described here.

Novel Insights into the Pathogenesis of Monogenic Congenital Anomalies of the Kidney and Urinary Tract.

Science.gov (United States)

van der Ven, Amelie T; Vivante, Asaf; Hildebrandt, Friedhelm

2018-01-01

Congenital anomalies of the kidneys and urinary tract (CAKUT) comprise a large spectrum of congenital malformations ranging from severe manifestations, such as renal agenesis, to potentially milder conditions, such as vesicoureteral reflux. CAKUT causes approximately 40% of ESRD that manifests within the first three decades of life. Several lines of evidence indicate that CAKUT is often caused by recessive or dominant mutations in single (monogenic) genes. To date, approximately 40 monogenic genes are known to cause CAKUT if mutated, explaining 5%-20% of patients. However, hundreds of different monogenic CAKUT genes probably exist. The discovery of novel CAKUT-causing genes remains challenging because of this pronounced heterogeneity, variable expressivity, and incomplete penetrance. We here give an overview of known genetic causes for human CAKUT and shed light on distinct renal morphogenetic pathways that were identified as relevant for CAKUT in mice and humans. Copyright © 2018 by the American Society of Nephrology.

Antenatal diagnosis, prevalence and outcome of major congenital anomalies in Saudi Arabia: A hospital based study

International Nuclear Information System (INIS)

Sallout, Bahauddin I.; Al-Hoshan, Manal S.; Attyyaa, Rehman A.; Al-Suleimat, Abdelmane A.

2008-01-01

The exact antenatal prevalence of congenital anomalies in Saudi society is unknown. Early antenatal diagnosis of congenital anomalies is crucial for early counseling, intervention and possible fetal therapy. The objective of this study was to evaluate the antenatal frequency of major congenital anomalies and malformations patterns in our hospital population and to evaluate the outcome and perinatal mortality rates for major congenital anomalies. This was a prospective study of the antenatal diagnosis of major fetal congenital anomalies conducted in the ultrasound Department of the Women's Specialized Hospital at King Fahd Medical City from for 7762 patients and 5379 babies delivered in our institution. We diagnosed 217 cases of fetal anomalies. The antenatal prevalence of congenital anomalies was 27.96 per 1000. The median maternal age at diagnosis was 27.5 years. Te median gestational age at diagnosis was 31 weeks. Genitourinary and cranial anomalies were the commonest; for 186 patients delivered in our institution, the birth prevalence was 34.57 per 1000 births. The median gestational age at delivery was 38 weeks. The perinatal mortality arte was 34.9% (65/186), including all cases of intrauterine fetal and neonatal deaths. The prevalence of major congenital anomalies in our population appears to be similar to international figures. Major congenital anomalies are a major cause of perinatal mortality. (author)

Neonatal gastrointestinal involvement and congenital cytomegalovirus

Directory of Open Access Journals (Sweden)

Alessandro Porta

2016-11-01

Full Text Available Cytomegalovirus (CMV is the most common cause of congenital viral infection, affecting 0.2 to 2.3% of all live births in developed countries. Very low birth weight and extremely low birth weight newborns are at higher risk of symptomatic CMV infection, most commonly secondary and acquired through breast milk. Gastrointestinal involvement is rare in acquired CMV infections, but it could be an important manifestation of postnatal infection in preterm infants admitted to neonatal intensive care units. Early onset of CMV gastrointestinal signs/symptoms is very rare. In a review of the literature it is described in 5 newborns in the first 24 hours of life, and 6 considering the onset in the first week of life. This review describes also a case report of congenital CMV in an immunocompetent newborn with onset of gastrointestinal signs immediately after birth: a possible association between viral infection and enteric manifestations was considered in the differential diagnosis. A review of the literature of the different case reports found has done, with description and comparison of the different patients and clinical presentations.

[Exudative enteropathy in congenital lymphedema-lymphangiectasia syndrome].

Science.gov (United States)

Heruth, M; Müller, P; Liebscher, L; Kurze, G; Richter, T

2006-01-01

Congenital peripheral elephantiasiformic alterations are very rare in paediatric patients. In a patient with lymphangiectasia-lymphedema syndrome we demonstrate over a 8-year follow-up that not only cosmetic and social indications for surgical treatments but also internal care become important during the course. We report on a boy with congenital lymphedemas of the extremities and the genital region, which were several times surgically treated. The patient became symptomatic firstly with tetanic cramps caused by malabsorption syndrome due to intestinal lymphangiectasia at the age of 6 years. Synopsis of clinical and laboratory findings and the patient's course are pointing to a mild Hennekam syndrome with still unknown aetiology. The boy developed adequately with permanent oral substitution of electrolytes and vitamins, protein-rich diet, supplementation of medium-chain fatty acids and compressing bandages. Infusions of human albumin to correct persistent hypalbuminemia as well as cytostatic treatment with cyclophosphamide as a formal trial were ineffective and are not advisable, therefore.

Severe neonatal cytomegalovirus infection: about a case | El ...

African Journals Online (AJOL)

In case of congenital CMV infection, infants can be symptomatic or asymptomatic at birth. Mortality for such infants can reach 30%, and survivors can have mental retardation, sensorineural hearing loss, chorioretinitis, and other significant medical problems. A newborn symptomatic is defined by the existence of clinical and ...

A novel TECTA mutation in a Dutch DFNA8/12 family confirms genotype-phenotype correlation.

NARCIS (Netherlands)

Plantinga, R.F.; Brouwer, A.P.M. de; Huygen, P.L.M.; Kunst, H.P.M.; Kremer, H.; Cremers, C.W.R.J.

2006-01-01

A novel TECTA mutation, p.R1890C, was found in a Dutch family with nonsyndromic autosomal dominant sensorineural hearing impairment. In early life, presumably congenital, hearing impairment occurred in the midfrequency range, amounting to about 40 dB at 1 kHz. Speech recognition was good with all

Risk factors for nosocomial infections after cardiac surgery in newborns with congenital heart disease.

Science.gov (United States)

García, Heladia; Cervantes-Luna, Beatriz; González-Cabello, Héctor; Miranda-Novales, Guadalupe

2017-11-23

Congenital heart diseases are among the most common congenital malformations. Approximately 50% of the patients with congenital heart disease undergo cardiac surgery. Nosocomial infections (NIs) are the main complications and an important cause of increased morbidity and mortality associated with congenital heart diseases. This study's objective was to identify the risk factors associated with the development of NIs after cardiac surgery in newborns with congenital heart disease. This was a nested case-control study that included 112 newborns, including 56 cases (with NI) and 56 controls (without NI). Variables analyzed included perinatal history, associated congenital malformations, Risk-Adjusted Congenital Heart Surgery (RACHS-1) score, perioperative and postoperative factors, transfusions, length of central venous catheter, nutritional support, and mechanical ventilation. Differences were calculated with the Mann-Whitney-U test, Pearson X 2 , or Fisher's exact test. A multivariate logistic regression was used to determine the independent risk factors. Sepsis was the most common NI (37.5%), and the main causative microorganisms were gram-positive cocci. The independent risk factors associated with NI were non-cardiac congenital malformations (OR 6.1, CI 95% 1.3-29.4), central venous catheter indwelling time > 14 days (OR 3.7, CI 95% 1.3-11.0), duration of mechanical ventilation > 7 days (OR 6.6, CI 95% 2.1-20.1), and ≥5 transfusions of blood products (OR 3.1, CI 95% 1.3-8.5). Mortality attributed to NI was 17.8%. Newborns with non-cardiac congenital malformations and with >7 days of mechanical ventilation were at higher risk for a postoperative NI. Efforts must focus on preventable infections, especially in bloodstream catheter-related infections, which account for 20.5% of all NIs. Copyright © 2017. Published by Elsevier B.V.

Type IV neonatal Bartter syndrome complicated with congenital chloride diarrhea.

Science.gov (United States)

Sakallı, Hale; Bucak, Hakan İbrahim

2012-01-01

Pseudo-Bartter syndrome encompasses a heterogenous group of disorders similar to Bartter syndrome. Sometimes a few status may be nested, as in our case presented here. An 8-month-old boy was referred to our hospital with of intractable diarrhea, polyuria, persistent hypokalemia, abdominal distension and failure to thrive. He was born in the 34 6/7 gestational week (GW) to consanguineous parents. In the 30(th) GW polyhydramnios was verified by ultrasonography. The laboratory results showed hypokalemic-hypochloremic metabolic alkalosis, hyponatremia, and increased urinary loss of chloride, potassium and calcium. An audiogram test revealed complete sensorineural deafness. Ultrasonography revealed medullary nephrocalcinosis in both kidneys. Elevated plasma renin activity and aldosterone were found and a provisional diagnosis of type-IV neonatal Bartter syndrome was made. Treatment with indomethacin, spironolactone and additional intake of NaCl/KCl was initiated. Despite these therapies, the child's diarrhea persisted but serum potassium concentration normalized, and hypercalciuria and urine output reduced. After determining the high fecal chloride concentration, there was an immediate decompensation of the disease on indomethacin withdrawal, thus a diagnosis of type IV neonatal Bartter syndrome complicated with congenital chloride diarrhea was considered. Indomethacin, spironolactone and supplementary therapies with NaCl/KCl were continued, which resulted in the normalization of serum electrolytes as well as his physical development, but high contents of chloride in urine and faeces and nephrocalcinosis remains unchanged during 1-year follow-up. Because of the clinical and laboratory simulations between the various diseases that lead to hypokalemic-hypochloremic metabolic alkalosis, patients must be evaluated carefully.

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.

Neuropathogenesis of Congenital Cytomegalovirus Infection: Disease Mechanisms and Prospects for Intervention

OpenAIRE

Cheeran, Maxim C.-J.; Lokensgard, James R.; Schleiss, Mark R.

2009-01-01

Congenital cytomegalovirus (CMV) infection is the leading infectious cause of mental retardation and hearing loss in the developed world. In recent years, there has been an improved understanding of the epidemiology, pathogenesis, and long-term disabilities associated with CMV infection. In this review, current concepts regarding the pathogenesis of neurological injury caused by CMV infections acquired by the developing fetus are summarized. The pathogenesis of CMV-induced disabilities is con...

Parental consanguinity and associated factors in congenital talipes equinovarus.

Science.gov (United States)

Sreenivas, T; Nataraj, A R

2012-03-01

The cause of congenital talipes equinovarus (CTEV) is multifactorial and, consanguinity could be one of the causative factors in its development. The purpose of this study was, to determine the prevalence of parental consanguinity in CTEV and other factors like associated, congenital anomalies, maternal and fetal factors and also the severity of CTEV in these patients. The above factors were studied in 54 patients of less than 1 month of age with parental, consanguinity and 91 feet were evaluated for its severity using Dimeglio classification at the time of presentation. Out of 174 children presented to our department with CTEV, 54 (31%) children were born out, of consanguineous marriage. Thirty seven (68.5%) patients had bilateral CTEV. Twenty five (46.3%), patients had associated congenital anomalies and myelomeningocele being the commonest anomaly, associated. Out of 91 feet 61 (67%) were of grade 4 severity. High grade of severity observed in both idiopathic and non idiopathic CTEV suggests the, probable role of consanguinity as an etiological factor in the development of CTEV especially in our, part of the world. Copyright © 2011 Elsevier Ltd. All rights reserved.

Coats' disease and congenital retinoschisis in a single eye: a case report and DNA analysis.

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Berinstein, D M; Hiraoka, M; Trese, M T; Shastry, B S

2001-01-01

The clinical features of Coats' disease and congenital retinoschisis (RS) are distinctly different. Therefore, finding changes consistent with Coats' disease and congenital RS in a single eye is an unusual occurrence. The following report describes two cases with a Coats' telangiectatic lesion in one region of the retina separated by normal retina and the presence of central and peripheral congenital RS. Molecular genetic analysis of the Norrie disease and RS genes failed to identify disease-causing or polymorphic mutations in either of the genes, suggesting that the above condition is clinically and genetically a different disorder. Further studies are needed to identify the genes responsible for the above disorder and associated ocular manifestations. Copyright 2001 S. Karger AG, Basel.

Visual and Motor Deficits in Grown-up Mice with Congenital Zika Virus Infection.

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Cui, Liyuan; Zou, Peng; Chen, Er; Yao, Hao; Zheng, Hao; Wang, Qian; Zhu, Jing-Ning; Jiang, Shibo; Lu, Lu; Zhang, Jiayi

2017-06-01

Human infants with congenital Zika virus (ZIKV) infection exhibit a range of symptoms including microcephaly, intracranial calcifications, macular atrophy and arthrogryposis. More importantly, prognosis data have lagged far behind the recent outbreak of ZIKV in 2015. In this work, we allow congenitally ZIKV-infected mice to grow into puberty. These mice exhibited motor incoordination and visual dysfunctions, which can be accounted by anatomical defects in the retina and cerebellar cortex. In contrary, anxiety level of the ZIKV-infected mice is normal. The spectrum of anatomical and behavioral deficits is consistent across different mice. Our data provided evidence that may help predict the public health burden in terms of prognosis of ZIKV-related congenital brain malformations in an animal model. Our study provided behavioral evaluation for the prognosis of congenital ZIKV infection and provides a platform for screening and evaluation of drugs candidates and treatment aiming at improving regeneration of infected neurons to prevent sequelae caused by ZIKV infection of fetus. Copyright © 2017 The Authors. Published by Elsevier B.V. All rights reserved.

Educational series in congenital heart disease:Congenital left-sided heart obstruction

OpenAIRE

Carr, Michelle; Curtis, Stephanie; Marek, Jan

2018-01-01

Congenital obstruction of the left ventricular outflow tract remains a significant problem and multilevel obstruction can often coexist. Obstruction can take several morphological forms and may involve the subvalvar, valvar or supravalvar portion of the aortic valve complex. Congenital valvar stenosis presenting in the neonatal period represents a spectrum of disorders ranging from the hypoplastic left heart syndrome to almost normal hearts. Treatment options vary dependent on the severity of...

Evaluating the feasibility of integrating salivary testing for congenital CMV into the Newborn Hearing Screening Programme in the UK.

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Kadambari, Seilesh; Luck, Suzanne; Davis, Adrian; Walter, Simone; Agrup, Charlotte; Atkinson, Claire; Stimson, Laura; Williams, Eleri; Berrington, Janet; Griffiths, Paul; Sharland, Mike

2015-08-01

Congenital cytomegalovirus (cCMV) accounts for 20% of all childhood sensorineural hearing loss (SNHL) but is not routinely tested for at birth. Valganciclovir has been shown to prevent hearing deterioration and improve neurocognitive outcomes if started in the first month of life. This study aimed to assess the feasibility of integrating testing for cCMV using salivary swabs into the Newborn Hearing Screening Programme (NHSP). Parents of newborns newborn hearing screen for further audiological testing, were approached by hearing screeners to obtain a saliva sample for CMV DNA polymerase chain reaction (PCR). Eighty percent (203/255) of newborns who were eligible had a saliva swab taken by the hearing screener. Over 99% of results were delivered within the first month of life. Two newborns were identified with cCMV and both seen on day 10 of life by the paediatric specialist. All saliva samples tested delivered a result using real-time PCR. It is feasible for hearing screeners to obtain saliva swabs to test for CMV DNA using real-time PCR in newborns referred after their initial hearing screen. Rapid diagnostic testing for cCMV needs a more detailed clinical and cost-effectiveness analysis.

Congenital Amegakaryocytic Thrombocytopenia Type II Presenting with Multiple Central Nervous System Anomalies

NARCIS (Netherlands)

Eshuis-Peters, Ellis; Versluys, Anne Brigitta; Stokman, Marijn Fijke; van der Crabben, Saskia Nanette; Nij Bijvank, Sebastiaan W A; van Wezel-Meijler, Gerda

Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare autosomal recessive bone marrow failure, caused by MPL gene mutations. The combination of CAMT and central nervous system abnormalities is uncommon. We describe a case with a homozygous missense MPL gene mutation and polymicrogyria,

Risk factors for congenital anomalies in high risk pregnant women: A ...

African Journals Online (AJOL)

Tella Sunitha

2016-05-14

May 14, 2016 ... genital malformations cannot be linked to a specific cause. BOH implies ... results were interpreted on the basis of Immune Status Ratio. (ISR) index ... lar System disorders [atrial and ventricular septal defects, pericardial .... Family H/o congenital anomalies/mental retardation/genetic diseases. Yes. 36(10).

MTRR gene variants may predispose to the risk of Congenital Heart ...

African Journals Online (AJOL)

Background: Down syndrome (DS), also called as trisomy 21, is one of the most leading cause of intellectual disability. DS is associated with a number of phenotypes including Congenital Heart Disease (CHD), Leukemia, Alzheimer's disease, Hirschsprung's disease and others. DS affects about 1 in 700 live births.

Congenital long QT syndrome in children

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Cerović Ivana

2016-01-01

Full Text Available Long QT syndrome (LQTS is a cardiac repolarization disorder characterized by prolonged QT interval on the electrocardiogram (ECG and increased propensity to ventricular tachyarrhythmias and cardiac events. LQTS might be acquired or congenital, which presents a group of channelopathies that occur due to mutation in one of 15 so far identified genes. The most frequent types of congenital LTQS are LQT1, LQT2 and LQT3. Prolonged or delayed repolarization leads to the increase of action potential duration which predisposes early afterdepolarization, as well as the amplification of transmural dispersion of repolarization, both contributing to the development of Torsades de Pointes ventricular tachycardia. Clinical manifestations of LQTS are palpitations, syncope, aborted cardiac arrest or sudden cardiac death, but it can also be asymptomatic. Trigger factors for symptoms are specific for certain genotype. LQTS examination includes thorough clinical and family history focused on distinctive data (repeated syncopes, cases of sudden cardiac death in the family, hereditary arrhythmias, resting ECG, exercise stress testing and genetic analysis, with additional methods (serial ECG records, 24h ECG Holter, epinephrine test. Clinical LQTS diagnosis is based on Schwartz's scoring system, while the criteria for final diagnosis of LQTS depend on Schwartz's score, QT interval duration, presence of pathogenic mutation and clinical symptoms. Treatment approach begins with lifestyle modifications and β-blockers therapy, while other options include implantable cardioverter- defibrillator, permanent pacemaker or surgical sympathectomy. Sudden cardiac death is the reason of 90% of sudden deaths in young athletes, while LQTS is one of its causes. Recommendations for physical activities in children with congenital LQTS arise from the ones for adults and they presume very strict limitations. Further researches are expected to advance the understanding of genotype

Genetics Home Reference: congenital mirror movement disorder

Science.gov (United States)

... Health Conditions Congenital mirror movement disorder Congenital mirror movement disorder Printable PDF Open All Close All Enable ... view the expand/collapse boxes. Description Congenital mirror movement disorder is a condition in which intentional movements ...

Screening for congenital hypothyroidism in Lebanon

International Nuclear Information System (INIS)

El Ezzi, Asmahan; Hachem, Hoda

1999-01-01

Full text.National programs of neonatal screening were introduced in most countries and have proved their effectiveness against different types of retardation in children. Congenital hypothyroidism is one of the most common causes of physical and mental retardation in children. Programs of screening have shown that the incidence of this disorder is ethnic-background: it is low in Africans: 1-32000 whereas it is 1-3500 and 1-5000 in Hispanic and European newborns respectively. No previous mass screening programs were done in Lebanon. For this purpose, this program was introduced in collaboration with the IAEA. Cord blood is spotted into circles on filter paper just after delivery. These samples are air-dried at room temperature and kept at 4 degree C. They are then collected from hospitals to be screened. In the laboratory, all samples are assayed for IRMA TSH first. Those showing high or borderline TSH level (20mU/L) are then assayed for RIA TT4. Only those showing straight forward high TSH and low TT4 are considered as congenital hypothyroidism cases. For IRMA and RIA, the technique of coated beads is used. We started the program by using reagents from NETRIA, but actually, we start preparing most of our reagents with the exception pf the tracer. A total of 7500 babies have been up now. One case was detected as possible case of congenital hypothyroidism: straight forward high TSH and borderline TT4: this case is now under treatment by endocrinologist and is supposed to have a problem at the pituitary level

Radiology of congenital heart disease

International Nuclear Information System (INIS)

Amplatz, K.

1986-01-01

This is a text on the radiologic diagnosis of congenital heart disease and its clinical manifestations. The main thrust of the book is the logical approach which allows an understanding of the complex theory of congenital heart disease. The atlas gives a concise overview of the entire field of congenital heart disease. Emphasis is placed on the understanding of the pathophysiology and its clinical and radiological consequences. Surgical treatment is included since it provides a different viewpoint of the anatomy

Congenital Cytomegalovirus Hepatitis in the XXI Century is not Uncommon!

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N.P. Skorodumova

2014-08-01

Full Text Available The article presents features of early clinical and laboratory diagnosis of congenital cytomegalovirus (CMV hepatitis. The analysis of the causes of late diagnosis of chronic hepatitis is carried out. Some children have repeatedly appealed to the doctor and treated for gastroduodenitis, cholecystitis, biliary dyskinesia, ulcerative colitis. Chart review allowed to assume that the extrahepatic manifestations of chronic hepatitis and liver cirrhosis district pediatricians interpreted as allergy (recurrent urticaria, juvenile rheumatoid arthritis (arthritis, vegetovascular dystonia (ECG changes; endocrine violations (delayed menstruation, striae on the abdominal skin — as the feature of puberty; signs of hypo- or hyperthyroidism — as endemic pathology. A sequence of doctor’s actions in diagnosing congenital CMV infection, mainly affecting the liver, is provided.

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

been described as an isolated Mendelian defect, as part of multiple congenital anomaly (MCA) patterns, and in different syndromes. Among a total of 2,023,155 liveborn infants in the Spanish Collaborative Study of Congenital Malformations (ECEMC), we observed only two cases with this type of metacarpal...

Genotype and Phenotype of 101 Dutch Patients with Congenital Stationary Night Blindness

NARCIS (Netherlands)

Bijveld, M.M.C.; Florijn, R.J.; Bergen, A.A.B.; van den Born, L.I.; Kamermans, M.; Prick, L.; Riemslag, F.C.C.; van Schooneveld, M.J.; Kappers, A.M.L.; van Genderen, M.M.

2013-01-01

Objective: To investigate the relative frequency of the genetic causes of the Schubert-Bornschein type of congenital stationary night blindness (CSNB) and to determine the genotype-phenotype correlations in CSNB1 and CSNB2. Design: Clinic-based, longitudinal, multicenter study. Participants: A total

Congenital malformations of the ear and cochlear implantation in children: review and temporal bone report of common cavity.

Science.gov (United States)

Graham, J M; Phelps, P D; Michaels, L

2000-01-01

The objective of this review is to analyze aspects of congenital malformation of the ear in relation to cochlear implantation in children. Having briefly described the in utero development of the ear and the classification of types of external, middle and inner ear malformation, five practical aspects of these malformations are discussed. It seems likely that the combination of bilateral profound sensorineural deafness with bilateral microtia severe enough to make a surgical approach to the cochlea difficult will be extremely uncommon. No such cases have been reported, although Klippel-Feil deformity seems the syndrome most likely to produce this set of circumstances. Abnormalities in the intratympanic course of the facial nerve have been associated with cochlear malformation, emphasizing the benefit of intra-operative facial nerve monitoring, and a technique suggested for safely avoiding an abnormally placed nerve. Fistulae of cerebrospinal fluid (CSF) and perilymph can complicate surgery and are relatively common in common cavity and Mondini malformations. Strategies for facilitating surgery in the presence of 'gushers', for measuring the pressure of a gusher and for placement of the cochlear implant electrode array are reviewed, with reports of fluctuating levels of electric current when implants lie in dysplastic cochleas. The relationship of implant performance to VIIIth nerve tissue in malformed cochleas is discussed, with a description of the histological findings in a common cavity cochlea. Techniques for identifying the absence of the cochlear nerve are reviewed. Stimulation of the facial nerve by cochlear implants has been described in cases of congenital malformation of the labyrinth but is relatively uncommon. Case reports of the benefit received by implanted children with congenital cochlear malformation have appeared since 1988. Most cases reported have not yet been followed for long enough to establish a clear picture of the outcome following

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

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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.

Nitrofurantoin and congenital abnormalities

DEFF Research Database (Denmark)

Czeizel, A.E.; Rockenbauer, M.; Sørensen, Henrik Toft

2001-01-01

or fetuses with Down’s syndrome (patient controls), 23 (2.8%) pregnant women were treated with nitrofurantoin. The above differences between population controls and cases may be connected with recall bias, because the case-control pair analysis did not indicate a teratogenic potential of nitrofurantoin use......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...... during the second and the third months of gestation, i.e. in the critical period for major congenital abnormalities. Conclusion: Treatment with nitrofurantoin during pregnancy does not present detectable teratogenic risk to the fetus....

A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia

DEFF Research Database (Denmark)

Arnaud, Lionel; Saison, Carole; Helias, Virginie

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 unclassified...

Analysis of visual outcomes and complications following levator resection for unilateral congenital blepharoptosis without strabismus

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Shu-Ya Wu

2013-08-01

Full Text Available Background: It is challenging to manage congenital blepharoptosis, especially unilateral, because symmetry is difficult to achieve under general anesthesia and age at which the ptosis should be corrected is still controversial. The aim of our study is to analyze visual and surgical outcomes after levator resection for unilateral congenital blepharoptosis. Methods: Charts of patients with unilateral congenital blepharoptosis who underwent levator resection at the Chang Gung Memorial Hospital from 1991 through 2000 were reviewed. The resultant database was interrogated for demographic data, severity, surgical timing, visual outcomes, surgical outcomes, and complications. Results: Eighty-four children underwent levator resection for unilateral congenital blepharoptosis: 16.7% of these patients had amblyopia and 84.5% had surgical success following levator resection. Severe ptosis (p = 0.0288, p < 0.05 and surgery at less than 2 years of age (p = 0.0126, p < 0.05 were the important factors contributing to surgical failure. Age at surgery (p = 0.0058, p < 0.01 and amblyogenic ametropia (p = 0.0001, p < 0.001 were found to be significantly associated with the postoperative visual results. Conclusion: The levator resection provides satisfactory results both in function and cosmesis in patients with unilateral congenital blepharoptosis. Amblyogenic ametropia is the leading cause of amblyopia in the patients with unilateral isolated congenital blepharoptosis. However, patients with unilateral congenital blepharoptosis should have cycloplegic refraction as early as possible, and their visual status monitored until visual maturity.

CEP250 mutations associated with mild cone-rod dystrophy and sensorineural hearing loss in a Japanese family.

Science.gov (United States)

Kubota, Daiki; Gocho, Kiyoko; Kikuchi, Sachiko; Akeo, Keiichiro; Miura, Masahiro; Yamaki, Kunihiko; Takahashi, Hiroshi; Kameya, Shuhei

2018-05-02

CEP250 encodes the C-Nap1 protein which belongs to the CEP family of proteins. C-Nap1 has been reported to be expressed in the photoreceptor cilia and is known to interact with other ciliary proteins. Mutations of CEP250 cause atypical Usher syndrome which is characterized by early-onset sensorineural hearing loss (SNHL) and a relatively mild retinitis pigmentosa. This study tested the hypothesis that the mild cone-rod dystrophy (CRD) and SNHL in a non-consanguineous Japanese family was caused by CEP250 mutations. Detailed ophthalmic and auditory examinations were performed on the proband and her family members. Whole exome sequencing (WES) was used on the DNA obtained from the proband. Electrophysiological analysis revealed a mild CRD in two family members. Adaptive optics (AO) imaging showed reduced cone density around the fovea. Auditory examinations showed a slight SNHL in both patients. WES of the proband identified compound heterozygous variants c.361C>T, p.R121*, and c.562C>T, p.R188* in CEP250. The variants were found to co-segregate with the disease in five members of the family. The variants of CEP250 are both null variants and according to American College of Medical Genetics and Genomics (ACMG) standards and guideline, these variants are classified into the very strong category (PVS1). The criteria for both alleles will be pathogenic. Our data indicate that mutations of CEP250 can cause mild CRD and SNHL in Japanese patients. Because the ophthalmological phenotypes were very mild, high-resolution retinal imaging analysis, such as AO, will be helpful in diagnosing CEP250-associated disease.

Contact area affects frequency-dependent responses to vibration in the peripheral vascular and sensorineural systems.

Science.gov (United States)

Krajnak, Kristine; Miller, G R; Waugh, Stacey

2018-01-01

Repetitive exposure to hand-transmitted vibration is associated with development of peripheral vascular and sensorineural dysfunctions. These disorders and symptoms associated with it are referred to as hand-arm vibration syndrome (HAVS). Although the symptoms of the disorder have been well characterized, the etiology and contribution of various exposure factors to development of the dysfunctions are not well understood. Previous studies performed using a rat-tail model of vibration demonstrated that vascular and peripheral nervous system adverse effects of vibration are frequency-dependent, with vibration frequencies at or near the resonant frequency producing the most severe injury. However, in these investigations, the amplitude of the exposed tissue was greater than amplitude typically noted in human fingers. To determine how contact with vibrating source and amplitude of the biodynamic response of the tissue affects the risk of injury occurring, this study compared the influence of frequency using different levels of restraint to assess how maintaining contact of the tail with vibrating source affects the transmission of vibration. Data demonstrated that for the most part, increasing the contact of the tail with the platform by restraining it with additional straps resulted in an enhancement in transmission of vibration signal and elevation in factors associated with vascular and peripheral nerve injury. In addition, there were also frequency-dependent effects, with exposure at 250 Hz generating greater effects than vibration at 62.5 Hz. These observations are consistent with studies in humans demonstrating that greater contact and exposure to frequencies near the resonant frequency pose the highest risk for generating peripheral vascular and sensorineural dysfunction.

Congenital pseudarthrosis of clavicle, differential diagnosis pathology

International Nuclear Information System (INIS)

Vergara A, Enrique; Villamarin, Fernando; Pina Q, Marcela

2006-01-01

The congenital pseudarthrosis of clavicle is a rare entity, frequently appearing without association to other pathologies and does not cause important limitations in the children. It can confuse with other traumatic pathologies like clavicle fracture. Most of the patients complain about the aesthetics and few times for pain. The treatment is generally surgical there is controversy about of carrying out surgery. We reported two clinical cases with pseudoarthrosis of the right clavicle that they received surgical treatment with satisfactory results.

[Congenital cardiopathy and cerebral abscess].

Science.gov (United States)

Paixão, A; de Andrade, F F; Sampayo, F

1989-01-01

During 1986 the authors came across two cases of brain abscess among children with congenital heart disease followed at the Pediatric Cardiology Service and decided to evaluate their global experience on the subject. In a retrospective study of 860 infants and children with cyanotic congenital heart disease and final diagnosis, there were four cases complicated with brain abscess. The following items were evaluated: prevalence of the complication, type of congenital heart disease, date and age at the diagnosis of brain abscess, diagnostic methods, neurosurgical treatment and results. The main findings were: all patients were above two years of age and had noncorrected cyanotic congenital heart disease belonging to the classic high risk group; the first two cases had been treated in other institutions and only scanty information was available; two recent cases had early diagnosis on CAT scan followed by neurosurgical treatment. All children survived. brain abscess is a rare but severe complication occurring in patients with noncorrected cyanotic congenital heart disease above two years of age; whenever prevention turns impossible, early diagnosis and treatment provide good short term and long term results. A multidisciplinar approach with full cooperation is advocated.

Symptoms of Autism Among Children with Congenital Deafblindness

DEFF Research Database (Denmark)

Dammeyer, Jesper Herup

2014-01-01

concerning individuals with congenital deafblindness. This study examines symptoms of autism among 71 children with congenital deafblindness using the Autism Behavior Checklist. The cohort of children with congenital deafblindness was found to have symptoms of autism on a level similar to children......Associations between congenital deafness or blindness and autism have been found. The main consequences of congenital sensory impairment, being barriers for communication, language and social interaction development, may lead to symptoms of autism. To date only few studies have been reported...... with another developmental disorder than autism for example intellectual disability. No association was found between severity of congenital sensory impairment and severity or type of symptoms of autism....

Angiographic features of rapidly involuting congenital hemangioma (RICH)

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Konez, Orhan; Burrows, Patricia E. [Department of Radiology, Children' s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115 (United States); Mulliken, John B. [Division of Plastic Surgery, Children' s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115 (United States); Fishman, Steven J. [Department of Pediatric Surgery, Children' s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115 (United States); Kozakewich, Harry P.W. [Department of Pathology, Children' s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115 (United States)

2003-01-01

Rapidly involuting congenital hemangioma (RICH) is a recently recognized entity in which the vascular tumor is fully developed at birth and undergoes rapid involution. Angiographic findings in two infants with congenital hemangioma are reported and compared with a more common postnatal infantile hemangioma and a congenital infantile fibrosarcoma. Congenital hemangiomas differed from infantile hemangiomas angiographically by inhomogeneous parenchymal staining, large and irregular feeding arteries in disorganized patterns, arterial aneurysms, direct arteriovenous shunts, and intravascular thrombi. Both infants had clinical evidence of a high-output cardiac failure and intralesional bleeding. This congenital high-flow vascular tumor is difficult to distinguish angiographically from arteriovenous malformation and congenital infantile fibrosarcoma. (orig.)

Congenital rubella syndrome and delayed manifestations