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Deafness congenital infections

Soren Gantt, Francois Dionne, Fred K Kozak, Oran Goshen, David M Goldfarb, Albert H Park, Suresh B Boppana, Karen Fowler
Importance: Congenital cytomegalovirus (cCMV) infection is a major cause of childhood deafness. Most cCMV infections are not diagnosed without newborn screening, resulting in missed opportunities for directed care. Objective: To estimate the cost-effectiveness of universal and targeted newborn cCMV screening programs compared with no cCMV screening. Design, Setting, and Participants: Models were constructed using rates and outcomes from prospective cohort studies of newborn cCMV screening in US postpartum care and early hearing programs...
October 10, 2016: JAMA Pediatrics
Sanjiv B Amin, Satish Saluja, Arvind Saili, Nirupama Laroia, Mark Orlando, Hongyue Wang, Asha Agarwal
AIM: Jaundice may cause auditory toxicity (auditory neuropathy and hearing loss). However, total serum bilirubin (TSB) does not discriminate neonates at risk for auditory toxicity. We compared TSB, bilirubin:albumin molar ratio (BAMR), and unbound bilirubin for their association with auditory toxicity in neonates with severe jaundice (TSB ≥342μmol/L, or that met exchange transfusion). METHOD: Neonates greater or equal to 34 weeks gestational age with severe jaundice during the first 2 postnatal weeks were eligible for prospective cohort study, unless they had craniofacial malformations, chromosomal disorders, toxoplasmosis, other infections, rubella, cytomegalovirus, herpes simplex infections, surgery, or family history of congenital deafness...
October 8, 2016: Developmental Medicine and Child Neurology
Hetal Marfatia, Ratna Priya, Nilam U Sathe, Shampa Mishra
Baha has proven performance and advantages for patients with aural atresia or chronic ear drainage. Being a per cutaneous osseo integrated implant the skin around the fixture is in contact with a foreign body that leads to chronic inflammatory reaction and complications such as skin irritation and overgrowth occur frequently. Challenges that are faced during Baha surgery include those during candidate selection, work up, anesthesia related as well as intra-operative and post operative complications. Ours was a retrospective and observational study where case records of 10 patients who underwent Baha surgery in the Department of E...
September 2016: Indian Journal of Otolaryngology and Head and Neck Surgery
Swati Tandon, Satinder Singh, Shalabh Sharma, Asish K Lahiri
INTRODUCTION: Congenital anomalies of the cochlea and labyrinth can be associated with meningitis and varying degrees of hearing loss or deafness. Despite antibiotics, meningitis remains a life threatening complication. CASE REPORT: We report a case of recurrent meningitis following episodes of otitis media in a cochlear implantee child with bilateral vestibulocochlear malformation, due to fistula in the stapes footplate. Intrathecal fluorescin was used to identify the leak site...
May 2016: Iranian Journal of Otorhinolaryngology
K Yeon Choi, Matthew Root, Alistair McGregor
UNLABELLED: Congenital cytomegalovirus (CMV) infection is a leading cause of mental retardation and deafness in newborns. The guinea pig is the only small animal model for congenital CMV infection. A novel CMV vaccine was investigated as an intervention strategy against congenital guinea pig cytomegalovirus (GPCMV) infection. In this disabled infectious single-cycle (DISC) vaccine strategy, a GPCMV mutant virus was used that lacked the ability to express an essential capsid gene (the UL85 homolog GP85) except when grown on a complementing cell line...
September 1, 2016: Journal of Virology
Koo Nagasawa, Naruhiko Ishiwada, Atsushi Ogura, Tomoko Ogawa, Noriko Takeuchi, Haruka Hishiki, Naoki Shimojo
To our knowledge, this is the first report of the use of real-time reverse transcription-polymerase chain reaction to assess changes in viral load in a patient with congenital rubella syndrome (CRS). Rubella-specific antibody titers were also determined. The patient was a male neonate born to a primipara with rubella infection at 10 weeks of gestation. He had no symptoms at birth, but rubella virus was detected in his pharynx, blood, and urine. His mental and physical development was normal for 1 year; however, he was diagnosed with deafness at 13 months of age...
May 2016: Pediatrics
Maude Rolland, Xiaojun Li, Yann Sellier, Hélène Martin, Teresa Perez-Berezo, Benjamin Rauwel, Alexandra Benchoua, Bettina Bessières, Jacqueline Aziza, Nicolas Cenac, Minhua Luo, Charlotte Casper, Marc Peschanski, Daniel Gonzalez-Dunia, Marianne Leruez-Ville, Christian Davrinche, Stéphane Chavanas
Congenital infection by human cytomegalovirus (HCMV) is a leading cause of permanent sequelae of the central nervous system, including sensorineural deafness, cerebral palsies or devastating neurodevelopmental abnormalities (0.1% of all births). To gain insight on the impact of HCMV on neuronal development, we used both neural stem cells from human embryonic stem cells (NSC) and brain sections from infected fetuses and investigated the outcomes of infection on Peroxisome Proliferator-Activated Receptor gamma (PPARγ), a transcription factor critical in the developing brain...
April 2016: PLoS Pathogens
Ely Cheikh Mohamed Moctar, Zied Riahi, Hala El Hachmi, Fatimetou Veten, Ghlana Meiloud, Christine Bonnet, Sonia Abdelhak, Mohammed Errami, Ahmed Houmeida
Origins of all hearing impairment forms may be divided into genetic mutations and acquired influence. Both carry damage to the inner ear structure resulting in a mild to profound dysfunction of the auditory system. The purpose of this study was to assess the different etiologies of deafness in two reference centers for hearing-impaired children in Nouakchott/Mauritania. Data on gender, age, consanguinity, etiology and family history of deafness were gathered by interviewing the custodians of 139 children with hearing loss...
April 11, 2016: European Archives of Oto-rhino-laryngology
Alda Saldan, Gabriella Forner, Carlo Mengoli, Daniel Tinto, Loredana Fallico, Marta Peracchi, Nadia Gussetti, Giorgio Palù, Davide Abate
Human cytomegalovirus (CMV) infection is a major cause of congenital infection leading to birth defects and sensorineural anomalies, including deafness. Recently, cell-mediated immunity (CMI) in pregnant women has been shown to correlate with congenital CMV transmission. In this study, two interferon gamma release assays (IGRA), the CMV enzyme-linked immunosorbent spot (ELISPOT) and CMV QuantiFERON assays, detecting CMV-specific CMI were compared. These assays were performed for 80 CMV-infected (57 primarily and 23 nonprimarily) pregnant women and 115 controls, including 89 healthy CMV-seropositive pregnant women without active CMV infection, 15 CMV-seronegative pregnant women, and 11 seropositive or seronegative nonpregnant women...
May 2016: Journal of Clinical Microbiology
I Simms, P A Tookey, B T Goh, H Lyall, B Evans, C L Townsend, H Fifer, C Ison
OBJECTIVE: To estimate the incidence of congenital syphilis in the UK. DESIGN: Prospective study. SETTING AND POPULATION: United Kingdom. METHODS: Children born between February 2010 and January 2015 with a suspected diagnosis of congenital syphilis were reported through an active surveillance system. MAIN OUTCOME MEASURES: Number of congenital syphilis cases and incidence. RESULTS: For all years, reported incidence was below the WHO threshold for elimination (<0...
March 2, 2016: BJOG: An International Journal of Obstetrics and Gynaecology
Jill Hutton
In the 1970s, Stella Chess found a high prevalence of autism in children with congenital rubella syndrome (CRS), 200 times that of the general population at the time. Many researchers quote this fact to add proof to the current theory that maternal infection with immune system activation in pregnancy leads to autism in the offspring. This rubella and autism association is presented with the notion that rubella has been eliminated in today's world. CRS cases are no longer typically seen; yet, autistic children often share findings of CRS including deafness, congenital heart defects, and to a lesser extent visual changes...
2016: Frontiers in Human Neuroscience
Alexia Willame, Geraldine Blanchard-Rohner, Christophe Combescure, Olivier Irion, Klara Posfay-Barbe, Begoña Martinez de Tejada
BACKGROUND: Cytomegalovirus (CMV) is the most frequent cause of congenital infection and commonly associated with sensorineural deficit. At present, there is neither prophylaxis nor treatment during pregnancy. The objective of this study was to evaluate the level of awareness regarding CMV infection and its consequences in women delivering at the University of Geneva Hospitals (Geneva, Switzerland). METHODS: The study consisted of a validated questionnaire completed by women in the immediate postpartum period...
December 2015: International Journal of Environmental Research and Public Health
Kohji Ueda
Epidemiological studies of rubella and congenital rubella syndrome (CRS) in Japan have been conducted since the first nationwide rubella epidemic of 1965-1969 and subsequent epidemics of 1975-1977, 1982, 1987-1988, and 1992-1993. Rubella was non-endemic in Japan before the 1975-1977 epidemic, and endemic thereafter. Japan started a selective rubella vaccination program for junior high school girls in 1977, and universal rubella vaccination of children of both sexes in 1989. No nationwide rubella epidemics have occurred since 1994...
April 7, 2016: Vaccine
Eleri J Williams, Joanne Gray, Suzanne Luck, Claire Atkinson, Nicholas D Embleton, Seilesh Kadambari, Adrian Davis, Paul Griffiths, Mike Sharland, Janet E Berrington, Julia E Clark
BACKGROUND: 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. AIMS: 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)...
November 2015: Archives of Disease in Childhood. Fetal and Neonatal Edition
Shannon A Ross, Amina Ahmed, April L Palmer, Marian G Michaels, Pablo J Sánchez, Audra Stewart, David I Bernstein, Kristina Feja, Zdenek Novak, Karen B Fowler, Suresh B Boppana
Congenital cytomegalovirus infection is traditionally diagnosed by virus detection in saliva or urine. Virus culture was positive in significantly fewer urine samples collected using cotton balls in diapers (55.2%) than with samples collected by bags (93.2%) from newborns screened positive for CMV in saliva. However, polymerase chain reaction was positive in 95% of urine samples regardless of the collection method.
August 2015: Pediatric Infectious Disease Journal
Swetha G Pinninti, Shannon A Ross, Masako Shimamura, Zdenek Novak, April L Palmer, Amina Ahmed, Robert W Tolan, David I Bernstein, Marian G Michaels, Pablo J Sánchez, Karen B Fowler, Suresh B Boppana
As part of the CMV and Hearing Multicenter Screening (CHIMES) study, 72,239 newborns were screened for cytomegalovirus by rapid culture and real-time PCR of saliva samples. Of the 266 infants with congenital cytomegalovirus infection, discordance between rapid culture and PCR was observed in 14 children, and 13 were identified only by PCR, demonstrating the superiority of the PCR assay.
May 2015: Pediatric Infectious Disease Journal
Muhammad A Mir, Samith T Kochuparambil, Roshini S Abraham, Vilmarie Rodriguez, Matthew Howard, Amy P Hsu, Amie E Jackson, Steven M Holland, Mrinal M Patnaik
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 considerable efforts have been made to identify the mutations that characterize this disorder, pathogenesis remains a work in progress with less than 100 patients described in current literature...
April 2015: Cancer Medicine
Krisana Pengsaa, Weerawan Hattasingh
BACKGROUND: The seroprevalence of toxoplasma antibodies in pregnant women and the prevalence of congenital infection differ widely between countries. A few cases of congenital toxoplasmosis diagnosed after the neonatal period, with long-term sequelae, have been reported in Thailand. No data on the prevalence of congenital toxoplasmosis have been documented and no screening for toxoplasmosis during pregnancy has been undertaken in Thailand. SUBJECTS AND METHODS: A questionnaire enquiring about cases of congenital toxoplasmosis during 1995-2013 was distributed to paediatricians in referral and university hospitals in Thailand and the responses were analysed...
February 2015: Paediatrics and International Child Health
Viraat Patel, Grace Sun, Meghan Dickman, Phuong Khuu, Joyce M C Teng
Keratitis-ichthyosis-deafness (KID) syndrome is a rare hereditary cornification disorder resulting from mutations in connexin 26, a protein important for intercellular communication. In addition to the characteristic clinical triad of congenital bilateral sensorineural hearing loss, keratitis, and erythrokeratoderma, affected individuals also suffer from chronic bacterial and fungal infections and have an increased risk of benign and malignant cutaneous tumors. Treatments with antibiotics, antifungals, and systemic retinoids have been reported with variable response...
March 2015: Dermatologic Therapy
Elise Bouthry, Olivier Picone, Ghada Hamdi, Liliane Grangeot-Keros, Jean-Marc Ayoubi, Christelle Vauloup-Fellous
Rubella is a mild viral disease that typically occurs in childhood. Rubella infection during pregnancy causes congenital rubella syndrome, including the classic triad of cataracts, cardiac abnormalities and sensorineural deafness. Highly effective vaccines have been developed since 1969, and vaccination campaigns have been established in many countries. Although there has been progress, the prevention and diagnosis of rubella remain problematic. This article reviews the implications and management of rubella during pregnancy...
December 2014: Prenatal Diagnosis
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