980 resultados para CONDUCTIVE HEARING-LOSS
Resumo:
Congenital hypogonadotropic hypogonadism (CHH) and its anosmia-associated form (Kallmann syndrome [KS]) are genetically heterogeneous. Among the >15 genes implicated in these conditions, mutations in FGF8 and FGFR1 account for ∼12% of cases; notably, KAL1 and HS6ST1 are also involved in FGFR1 signaling and can be mutated in CHH. We therefore hypothesized that mutations in genes encoding a broader range of modulators of the FGFR1 pathway might contribute to the genetics of CHH as causal or modifier mutations. Thus, we aimed to (1) investigate whether CHH individuals harbor mutations in members of the so-called "FGF8 synexpression" group and (2) validate the ability of a bioinformatics algorithm on the basis of protein-protein interactome data (interactome-based affiliation scoring [IBAS]) to identify high-quality candidate genes. On the basis of sequence homology, expression, and structural and functional data, seven genes were selected and sequenced in 386 unrelated CHH individuals and 155 controls. Except for FGF18 and SPRY2, all other genes were found to be mutated in CHH individuals: FGF17 (n = 3 individuals), IL17RD (n = 8), DUSP6 (n = 5), SPRY4 (n = 14), and FLRT3 (n = 3). Independently, IBAS predicted FGF17 and IL17RD as the two top candidates in the entire proteome on the basis of a statistical test of their protein-protein interaction patterns to proteins known to be altered in CHH. Most of the FGF17 and IL17RD mutations altered protein function in vitro. IL17RD mutations were found only in KS individuals and were strongly linked to hearing loss (6/8 individuals). Mutations in genes encoding components of the FGF pathway are associated with complex modes of CHH inheritance and act primarily as contributors to an oligogenic genetic architecture underlying CHH.
Resumo:
The purpose of the newsletter is to communicate with parents and professionals about newborn hearing screening in Iowa. We will share information about: Hearing screenings Intervention Resources available for parents and professionals “Best practices” by hospitals, AEAs (Area Education Agencies), or private practive audiology offices System goals Family stories Highlights from the EHDI Advisory Committee Updates on Iowa’s EHDI program It is important to point out that we are a diverse team of individuals working together to ensure that all newborns and toddlers with hearing loss are identified as early as possible and provided with timely and appropriate audiological, educational and medical intervention. Each newsletter will introduce you to various team members of the EHDI system in Iowa.
Resumo:
The purpose of the newsletter is to communicate with parents and professionals about newborn hearing screening in Iowa. We will share information about: Hearing screenings Intervention Resources available for parents and professionals “Best practices” by hospitals, AEAs (Area Education Agencies), or private practive audiology offices System goals Family stories Highlights from the EHDI Advisory Committee Updates on Iowa’s EHDI program It is important to point out that we are a diverse team of individuals working together to ensure that all newborns and toddlers with hearing loss are identified as early as possible and provided with timely and appropriate audiological, educational and medical intervention. Each newsletter will introduce you to various team members of the EHDI system in Iowa.
Resumo:
The purpose of the newsletter is to communicate with parents and professionals about newborn hearing screening in Iowa. We will share information about: Hearing screenings Intervention Resources available for parents and professionals “Best practices” by hospitals, AEAs (Area Education Agencies), or private practive audiology offices System goals Family stories Highlights from the EHDI Advisory Committee Updates on Iowa’s EHDI program It is important to point out that we are a diverse team of individuals working together to ensure that all newborns and toddlers with hearing loss are identified as early as possible and provided with timely and appropriate audiological, educational and medical intervention. Each newsletter will introduce you to various team members of the EHDI system in Iowa.
Resumo:
The purpose of the newsletter is to communicate with parents and professionals about newborn hearing screening in Iowa. We will share information about: Hearing screenings Intervention Resources available for parents and professionals “Best practices” by hospitals, AEAs (Area Education Agencies), or private practive audiology offices System goals Family stories Highlights from the EHDI Advisory Committee Updates on Iowa’s EHDI program It is important to point out that we are a diverse team of individuals working together to ensure that all newborns and toddlers with hearing loss are identified as early as possible and provided with timely and appropriate audiological, educational and medical intervention. Each newsletter will introduce you to various team members of the EHDI system in Iowa.
Resumo:
The purpose of the newsletter is to communicate with parents and professionals about newborn hearing screening in Iowa. We will share information about: Hearing screenings Intervention Resources available for parents and professionals “Best practices” by hospitals, AEAs (Area Education Agencies), or private practive audiology offices System goals Family stories Highlights from the EHDI Advisory Committee Updates on Iowa’s EHDI program It is important to point out that we are a diverse team of individuals working together to ensure that all newborns and toddlers with hearing loss are identified as early as possible and provided with timely and appropriate audiological, educational and medical intervention. Each newsletter will introduce you to various team members of the EHDI system in Iowa.
Resumo:
The purpose of the newsletter is to communicate with parents and professionals about newborn hearing screening in Iowa. We will share information about: Hearing screenings Intervention Resources available for parents and professionals “Best practices” by hospitals, AEAs (Area Education Agencies), or private practive audiology offices System goals Family stories Highlights from the EHDI Advisory Committee Updates on Iowa’s EHDI program It is important to point out that we are a diverse team of individuals working together to ensure that all newborns and toddlers with hearing loss are identified as early as possible and provided with timely and appropriate audiological, educational and medical intervention. Each newsletter will introduce you to various team members of the EHDI system in Iowa.
Resumo:
The purpose of the newsletter is to communicate with parents and professionals about newborn hearing screening in Iowa. We will share information about: Hearing screenings Intervention Resources available for parents and professionals “Best practices” by hospitals, AEAs (Area Education Agencies), or private practive audiology offices System goals Family stories Highlights from the EHDI Advisory Committee Updates on Iowa’s EHDI program It is important to point out that we are a diverse team of individuals working together to ensure that all newborns and toddlers with hearing loss are identified as early as possible and provided with timely and appropriate audiological, educational and medical intervention. Each newsletter will introduce you to various team members of the EHDI system in Iowa.
Resumo:
The purpose of the newsletter is to communicate with parents and professionals about newborn hearing screening in Iowa. We will share information about: Hearing screenings Intervention Resources available for parents and professionals “Best practices” by hospitals, AEAs (Area Education Agencies), or private practive audiology offices System goals Family stories Highlights from the EHDI Advisory Committee Updates on Iowa’s EHDI program It is important to point out that we are a diverse team of individuals working together to ensure that all newborns and toddlers with hearing loss are identified as early as possible and provided with timely and appropriate audiological, educational and medical intervention. Each newsletter will introduce you to various team members of the EHDI system in Iowa.
Resumo:
The purpose of the newsletter is to communicate with parents and professionals about newborn hearing screening in Iowa. We will share information about: Hearing screenings Intervention Resources available for parents and professionals “Best practices” by hospitals, AEAs (Area Education Agencies), or private practive audiology offices System goals Family stories Highlights from the EHDI Advisory Committee Updates on Iowa’s EHDI program It is important to point out that we are a diverse team of individuals working together to ensure that all newborns and toddlers with hearing loss are identified as early as possible and provided with timely and appropriate audiological, educational and medical intervention. Each newsletter will introduce you to various team members of the EHDI system in Iowa.
Resumo:
The purpose of the newsletter is to communicate with parents and professionals about newborn hearing screening in Iowa. We will share information about: Hearing screenings Intervention Resources available for parents and professionals “Best practices” by hospitals, AEAs (Area Education Agencies), or private practive audiology offices System goals Family stories Highlights from the EHDI Advisory Committee Updates on Iowa’s EHDI program It is important to point out that we are a diverse team of individuals working together to ensure that all newborns and toddlers with hearing loss are identified as early as possible and provided with timely and appropriate audiological, educational and medical intervention. Each newsletter will introduce you to various team members of the EHDI system in Iowa.
Resumo:
The purpose of the newsletter is to communicate with parents and professionals about newborn hearing screening in Iowa. We will share information about: Hearing screenings Intervention Resources available for parents and professionals “Best practices” by hospitals, AEAs (Area Education Agencies), or private practive audiology offices System goals Family stories Highlights from the EHDI Advisory Committee Updates on Iowa’s EHDI program It is important to point out that we are a diverse team of individuals working together to ensure that all newborns and toddlers with hearing loss are identified as early as possible and provided with timely and appropriate audiological, educational and medical intervention. Each newsletter will introduce you to various team members of the EHDI system in Iowa.
Resumo:
The purpose of the newsletter is to communicate with parents and professionals about newborn hearing screening in Iowa. We will share information about: Hearing screenings Intervention Resources available for parents and professionals “Best practices” by hospitals, AEAs (Area Education Agencies), or private practive audiology offices System goals Family stories Highlights from the EHDI Advisory Committee Updates on Iowa’s EHDI program It is important to point out that we are a diverse team of individuals working together to ensure that all newborns and toddlers with hearing loss are identified as early as possible and provided with timely and appropriate audiological, educational and medical intervention. Each newsletter will introduce you to various team members of the EHDI system in Iowa.
Resumo:
The purpose of the newsletter is to communicate with parents and professionals about newborn hearing screening in Iowa. We will share information about: Hearing screenings Intervention Resources available for parents and professionals “Best practices” by hospitals, AEAs (Area Education Agencies), or private practive audiology offices System goals Family stories Highlights from the EHDI Advisory Committee Updates on Iowa’s EHDI program It is important to point out that we are a diverse team of individuals working together to ensure that all newborns and toddlers with hearing loss are identified as early as possible and provided with timely and appropriate audiological, educational and medical intervention. Each newsletter will introduce you to various team members of the EHDI system in Iowa.
Resumo:
Context: The complexity of genetic testing in Kallmann syndrome (KS) is growing and costly. Thus, it is important to leverage the clinical evaluations of KS patients to prioritize genetic screening. Objective: The objective of the study was to determine which reproductive and nonreproductive phenotypes of KS subjects have implications for specific gene mutations. Subjects: Two hundred nineteen KS patients were studied: 151 with identified rare sequence variants (RSVs) in 8 genes known to cause KS (KAL1, NELF, CHD7, HS6ST1, FGF8/FGFR1, or PROK2/PROKR2) and 68 KS subjects who remain RSV negative for all 8 genes. Main Outcome Measures: Reproductive and nonreproductive phenotypes within each genetic group were measured. Results: Male KS subjects with KAL1 RSVs displayed the most severe reproductive phenotype with testicular volumes (TVs) at presentation of 1.5 ± 0.1 mL vs 3.7 ± 0.3 mL, P < .05 vs all non-KAL1 probands. In both sexes, synkinesia was enriched but not unique to patients with KAL1 RSVs compared with KAL1-negative probands (43% vs 12%; P < .05). Similarly, dental agenesis and digital bone abnormalities were enriched in patients with RSVs in the FGF8/FGFR1 signaling pathway compared with all other gene groups combined (39% vs 4% and 23% vs 0%; P < .05, respectively). Hearing loss marked the probands with CHD7 RSVs (40% vs 13% in non-CHD7 probands; P < .05). Renal agenesis and cleft lip/palate did not emerge as statistically significant phenotypic predictors. Conclusions: Certain clinical features in men and women are highly associated with genetic causes of KS. Synkinesia (KAL1), dental agenesis (FGF8/FGFR1), digital bony abnormalities (FGF8/FGFR1), and hearing loss (CHD7) can be useful for prioritizing genetic screening.
