Abstract:
:This article presents an overview of current topics related to the genetics of hearing loss. The review focuses on the approach toward a child with a sensorineural hearing loss of unknown etiology and the incorporation of genetic testing into the workup. Nongenetic causes of hearing loss are reviewed, as they are important in the differential diagnosis when considering a genetic basis for a child's hearing loss. The implications of universal newborn hearing screening and its implementation in many states are also addressed. Furthermore, important factors involved in the clinical diagnosis of the etiology of hearing loss, as well as factors relating to intervention and management of children with hearing loss are discussed. Finally, this review will consider genetic counseling for hearing loss and some of the issues important to the Deaf community.
journal_name
Semin Perinatoljournal_title
Seminars in perinatologyauthors
Rehm HLdoi
10.1053/j.semperi.2004.12.002keywords:
subject
Has Abstractpub_date
2005-06-01 00:00:00pages
173-81issue
3eissn
0146-0005issn
1558-075Xpii
S0146-0005(04)00119-3journal_volume
29pub_type
杂志文章,评审abstract::Unpublished results can bias biomedical literature, favoring positive over negative findings, primary over secondary analyses, and can lead to duplicate studies that unnecessarily endanger subjects and waste resources. The Neonatal Research Network's (NRN) publication policies for approving, reviewing, and tracking ab...
journal_title:Seminars in perinatology
pub_type: 杂志文章
doi:10.1053/j.semperi.2016.05.003
更新日期:2016-10-01 00:00:00
abstract::Thyroid hormone plays an important role in regulating cardiovascular function during the transition to extrauterine physiology. Multiple mechanisms participate, ranging from transcriptional to more immediate nongenomic modes of regulation. ...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1053/j.semperi.2008.09.007
更新日期:2008-12-01 00:00:00
abstract::In this review the factors present in human amniotic fluid that may function to inhibit bacterial growth have been examined. It appears that several potential antibacterial systems are present. Lysozyme and B-lysin may significantly contribute to the killing of gram-positive bacteria. Whether or not the remaining anti...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:
更新日期:1977-01-01 00:00:00
abstract::Hydrops fetalis, a condition characterized by abnormal accumulation of fluid and edema in the fetus, is the final common pathway in a number of pathological conditions. The diagnosis of hydrops is based on ultrasonographic findings of generalized edema along with a serous effusion (ascites, pleural effusion, or perica...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1016/s0146-0005(05)80053-9
更新日期:1995-12-01 00:00:00
abstract::Health care simulation is a powerful educational tool to help facilitate learning for clinicians and change their practice to improve patient outcomes and safety. To promote effective life-long learning through simulation, the educator needs to consider individuals, their experiences, and their environments. Effective...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1053/j.semperi.2011.01.002
更新日期:2011-04-01 00:00:00
abstract::Invasive candidiasis (IC) is a leading cause of morbidity and mortality in preterm infants. Even if successfully treated, IC can cause significant neurodevelopmental impairment. Preterm infants are at increased risk for hematogenous Candida meningoencephalitis owing to increased permeability of the blood-brain barrier...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1053/j.semperi.2012.06.003
更新日期:2012-12-01 00:00:00
abstract::Concern over the influence of pregnancy-related alterations in hydration has prompted questions regarding the accuracy of using standard methods of determining body composition. We sought to investigate whether differences exist between body composition determined at 30 weeks and 39 weeks of gestation and postpartum, ...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1016/s0146-0005(96)80027-9
更新日期:1996-08-01 00:00:00
abstract::The importance of omega-3 long chain polyunsaturated fatty acids in the perinatal period has been the focus of research for several decades. Infants born preterm miss out on the last trimester in utero transfer of omega-3 fatty acids and consequently have lower blood levels than infants born at term. Preterm infant fo...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1053/j.semperi.2019.06.004
更新日期:2019-11-01 00:00:00
abstract::Ultrasound has permeated the practice of anesthesiology and is becoming an essential tool for the obstetric anesthesiologist in the labor and delivery suite. The most common applications include guidance for neuraxial (epidural and spinal) anesthesia and acute pain nerve blocks, as well as guidance for central and per...
journal_title:Seminars in perinatology
pub_type: 杂志文章
doi:10.1053/j.semperi.2014.07.006
更新日期:2014-10-01 00:00:00
abstract::Many infants with CDH can be managed with conventional mechanical ventilation and pharmacotherapy. However, some infants will require levels of ventilator support that are not compatible with survival. In these circumstances, extracorporeal membrane oxygenation (ECMO) has been used with varying results. The indication...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1053/j.semperi.2005.04.005
更新日期:2005-04-01 00:00:00
abstract::This article reviews the literature on infectious diseases as a cause of stillbirth. Identifying a specific infection as a cause of stillbirth is limited by many obstacles. Nevertheless, "good faith" efforts estimate that approximately 9% to 15% of stillbirths are caused by infections. Infection may be especially impo...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1053/sper.2002.29839
更新日期:2002-02-01 00:00:00
abstract::Nitric oxide (NO) is intimately involved in vascular homeostasis through its antiplatelet, antiproliferative, and vasodilating actions. Because of these beneficial properties, methods of harnessing NO for the prevention of vascular injury responses, such as intimal hyperplasia, are being explored. One such method invo...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1016/s0146-0005(00)80056-7
更新日期:2000-02-01 00:00:00
abstract::The ductus arteriosus is a vital fetal structure designed to close shortly after birth. Although many physiologic and pharmacologic investigations have characterized the closure of this structure, genetic studies of persistent patency of the ductus arteriosus (patent ductus arteriosus, PDA) are relatively recent. Prog...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1053/j.semperi.2011.09.019
更新日期:2012-04-01 00:00:00
abstract::Pharmacotherapy, or medication-assisted treatment (MAT), is a critical component of a comprehensive treatment plan for the pregnant woman with opioid use disorder (OUD). Methadone and buprenorphine are two types of opioid-agonist therapy which prevent withdrawal symptoms and control opioid cravings. Methadone is a lon...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1053/j.semperi.2019.01.003
更新日期:2019-04-01 00:00:00
abstract::Long-term sequelae of preterm birth have been studied extensively up until the age of 5 to 8 years. However, the cognitive development of adolescents born preterm has received limited attention. The objective of this study is to determine school performance in adolescents born very preterm. We have followed up a cohor...
journal_title:Seminars in perinatology
pub_type: 杂志文章
doi:10.1053/j.semperi.2004.08.007
更新日期:2004-08-01 00:00:00
abstract::Among risk factors for shoulder dystocia, a prior history of delivery complicated by shoulder dystocia is the single greatest risk factor for shoulder dystocia occurrence, with odds ratios 7 to 10 times that of the general population. Recurrence rates have been reported to be as high as 16%. Whereas prevention of shou...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1053/j.semperi.2007.03.009
更新日期:2007-06-01 00:00:00
abstract::Traditional birth attendants (TBAs) provided delivery care throughout the world prior to the development of organized systems of medical care. In 2016, an estimated 22% of pregnant women delivered with a TBA, mostly in rural or remote areas that lacked formal health services. Still active in many regions of LMICs, the...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1053/j.semperi.2019.03.013
更新日期:2019-08-01 00:00:00
abstract::Candida is a leading cause of late onset infection (> 3 days of age) in the premature infant. Therefore, decisions about the diagnosis and management of infections caused by Candida are commonplace in the neonatal intensive care unit. Despite this fact, there are few comparative trials about treatment of neonatal Cand...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1016/s0146-0005(03)00060-0
更新日期:2003-10-01 00:00:00
abstract::Tumors are a rare but important cause of mortality and morbidity in the neonate. There is a wide spectrum of benign and malignant tumors that can occur, some of which have a unique presentation and behavior in this age group. It is important to recognize that tumors such as stage IVS neuroblastoma, which have a good p...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1016/s0146-0005(97)80026-2
更新日期:1997-02-01 00:00:00
abstract::In mammals, a master circadian clock resides in the suprachiasmatic nuclei of the anterior hypothalamus. The suprachiasmatic nuclei is composed of multiple, single-cell circadian oscillators, which, when synchronized, lead to coordinated circadian outputs that ultimately regulate overt rhythms. Several "clock genes" h...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1053/sper.2000.9122
更新日期:2000-08-01 00:00:00
abstract::Late preterm infants (34-37 weeks postmenstrual age at birth) are intermediate between less mature preterm infants and infants born at 38 weeks or more in regard to autonomic brain stem maturation. Ventilatory responses to CO(2) in preterm infants born at 33 to 36 week are significantly higher than in infants born at ...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1053/j.semperi.2006.02.005
更新日期:2006-04-01 00:00:00
abstract::Nonsteroidal anti-inflammatory drugs are frequently used during pregnancy (premature labor, polyhydramnios) and the immediate postnatal period (closure of patent ductus arteriosus). This article evaluates the renal effect of 3 nonspecific COX inhibitors (aspirin, indomethacin, and ibuprofen) in newborn rabbits. Five g...
journal_title:Seminars in perinatology
pub_type: 杂志文章
doi:10.1053/sper.2002.37310
更新日期:2002-12-01 00:00:00
abstract::Retinopathy of Prematurity (ROP) is a preventable neovascular retinal disease with a lifetime impact on vision and ocular morbidities. Retinal vessel immaturity and oxygen therapy, influenced or modulated by several risk factors including oxidative stress, intermittent hypoxia and desaturations, inflammation, infectio...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1053/j.semperi.2019.05.009
更新日期:2019-10-01 00:00:00
abstract::Clinically silent upper genital tract microbial infections have been strongly associated with spontaneous preterm delivery, especially prior to 32 weeks gestational age. This condition represents a potentially preventable or reversible cause of preterm birth using safe, readily available, and inexpensive antibiotics. ...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1016/s0146-0005(03)00006-5
更新日期:2003-06-01 00:00:00
abstract::Experience gathered over the last decade from high-risk centers provide strong evidence that mid-trimester sonographic markers are sensitive for Down syndrome prediction. More recent data indicate that combining mid trimester sonography with traditional serum markers significantly improves diagnostic accuracy over eit...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1053/sper.2003.50013
更新日期:2003-04-01 00:00:00
abstract::While the cesarean delivery (CD) rates have increased worldwide, operative vaginal delivery (OVD) rates continue to decline, with the United States having some of the lower rates amongst developed countries. It is clear that the use of forceps or vacuum can safely assist in accomplishing a vaginal delivery and prevent...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1053/j.semperi.2012.04.021
更新日期:2012-10-01 00:00:00
abstract::The principal objective of antenatal testing is to detect fetal hypoxia before the fetus has suffered lasting harm. This article summarizes some of the mechanisms by which fetal oxygen consumption is maintained under normal conditions, and adaptations that occur in response to hypoxemia. Alterations in the fetal heart...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1053/j.semperi.2008.04.003
更新日期:2008-08-01 00:00:00
abstract::Extracorporeal membrane oxygenation (ECMO) is a highly technical and complex method of life support. Patient and circuit emergencies on ECMO are rare, but in these cases, prompt and correct actions to address the crisis are needed to prevent morbidity and mortality. ECMO simulation programs have gained popularity in r...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1053/j.semperi.2016.08.002
更新日期:2016-11-01 00:00:00
abstract::Use of immunosuppressants during pregnancy is indicated for anti-rejection therapy in transplantation patients and treatment of autoimmune diseases. Maternal side effects include nephrotoxocity and hepatotoxicity. All immunosuppressant drugs cross the placenta. Immunosuppressant use during the first trimester is not s...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1016/s0146-0005(97)80057-2
更新日期:1997-04-01 00:00:00
abstract::Inhaled nitric oxide (iNO), a selective pulmonary vasodilator, is available for treatment of persistent pulmonary hypertension of the newborn in term and near-term neonates. iNO decreases pulmonary vascular resistance leading to diminished extrapulmonary shunt and also has a microselective effect which improves ventil...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1053/sper.2000.20085
更新日期:2000-12-01 00:00:00