Abstract:
:Mitochondrial disorders present in a myriad of ways, which causes them to be included in the differential diagnosis for many patients with undiagnosed disease. A subset of mitochondrial disorders are caused by intrinsic defects in the mitochondrial replication machinery, leading to loss of cellular mitochondrial content over time. The diagnosis of mitochondrial disease is complex. Several best-practice guides are available that enable a higher likelihood of detecting a mitochondrial disorder. The application of genomic sequencing and advanced physiologic analysis of the electron transport chain can offer more definitive evidence of mitochondrial dysfunction.
journal_name
Clin Perinatoljournal_title
Clinics in perinatologyauthors
Basel Ddoi
10.1016/j.clp.2019.10.008subject
Has Abstractpub_date
2020-03-01 00:00:00pages
123-141issue
1eissn
0095-5108issn
1557-9840pii
S0095-5108(19)30138-1journal_volume
47pub_type
杂志文章,评审abstract::The nature of perinatal education has been transformed, reflecting the changes in health care and health care consumers. Because of short maternity stays, the venue of most perinatal education, especially postpartum education, has moved from hospitals to other areas, including the home. In light of conflicting finding...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:
更新日期:1998-06-01 00:00:00
abstract::Although it has been customary to treat neonatal jaundice at lower serum bilirubin levels in low-birth weight infants than in term infants, the threshold bilirubin levels and long-term benefits for early treatment of preterm infants have not been validated. This article summarizes and evaluates existing evidence and s...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:10.1016/s0095-5108(05)70012-9
更新日期:2000-03-01 00:00:00
abstract::Gastroesophageal reflux (GER) is considered physiologic and is a normal process; whereas, when aerodigestive consequences are associated, it is often interpreted as GER disease (GERD). However, the distinction between them remains a challenge in infants in the NICU. Reflux-type of symptoms are heterogeneous, and often...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:10.1016/j.clp.2020.02.004
更新日期:2020-06-01 00:00:00
abstract::This article discusses the historical background, epidemiology, and pathophysiology of meconium-stained amniotic fluid and provides current concepts in delivery room management of meconium-stained neonate including the current Neonatal Resuscitation Program guidelines. ...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:10.1016/j.clp.2012.09.004
更新日期:2012-12-01 00:00:00
abstract::This article explains the mechanisms underlying choices of pharmacotherapy for hypoxic-ischemic insults of both preterm and term babies. Some preclinical data are strong enough that clinical trials are now underway. Challenges remain in deciding the best combination therapies for each age and insult. ...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:10.1016/j.clp.2013.09.004
更新日期:2014-03-01 00:00:00
abstract::Congenital heart defects (CHDs) are structural abnormalities of the heart and great vessels that are present from birth. The presence or absence of extracardiac anomalies has historically been used to identify patients with possible monogenic, chromosomal, or teratogenic CHD causes. These distinctions remain clinicall...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:10.1016/j.clp.2015.02.009
更新日期:2015-06-01 00:00:00
abstract::We emphasize again that the prevalence of maternal infections may vary in different populations, and others might arrive at different estimates about the percentage of infants colonized and, concerning those infants colonized, about the percentage with adverse outcomes. Additionally, many women are colonized or infect...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:
更新日期:1997-03-01 00:00:00
abstract::Every diagnostic test causes additional cost if not additional risk. The cost and risk are justified if the test result is likely to change what is done for patients. This includes a diagnostic test that does not alter therapy but provides important prognostic information for the parents. Whether the test result chang...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:10.1016/s0095-5108(03)00022-8
更新日期:2003-06-01 00:00:00
abstract::The last decades of bilirubin research seem to have clarified the basic mechanisms by which bilirubin enters the brain. Clinical studies have so far failed to show any value of the presently known risk factors in predicting bilirubin toxicity in the newborn infant, however. This indicates that bilirubin entry into the...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:
更新日期:1990-06-01 00:00:00
abstract::Most pharmacokinetic and biologic attributes of digitalis are age dependent. They are determined in great measure by the chemical structure of the specific cardiac glycoside being used. These effects differ in the intact normal circulation and in heart failure because of the altered autonomic nervous system and hormon...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:
更新日期:1988-09-01 00:00:00
abstract::It is now recognized that pregnancy is associated with significant changes in maternal thyroid function that are largely mediated by the placenta. The author summarizes the understanding of these changes during pregnancy and follows with a discussion of fetal thyroid system ontogenesis. ...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:
更新日期:1983-10-01 00:00:00
abstract::Prevention of harm from medication errors has become a national priority. Medication errors in the neonatal intensive care unit are common, and most can be avoided. This article reviews the prevalence and types of medication errors affecting the care of the neonate and summarizes approaches that have been used to redu...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:10.1016/j.clp.2007.11.010
更新日期:2008-03-01 00:00:00
abstract::A regionalized system of perinatal care, which draws on the strengths of individual hospitals and corrects any weaknesses, can enhance the level of performance of the community hospital. Although the care of high risk infants takes priority in this system, concern is expressed that routine perinatal care should also r...
journal_title:Clinics in perinatology
pub_type: 杂志文章
doi:
更新日期:1980-03-01 00:00:00
abstract::This study was undertaken to identify the pathologic processes in premature infants weighing less than 1000 gm who require surgery, and the outcome of such operations. These neonates required surgery for NEC and PDA. Congenital anomalies were not encountered in our series. No increased mortality due to surgery was obs...
journal_title:Clinics in perinatology
pub_type: 杂志文章
doi:
更新日期:1986-06-01 00:00:00
abstract::The management of PPHN entered a new era with the development of inhaled NO therapy for the relief of pulmonary hypertension. The wider application of INO therapy and improved ventilation strategies led to a decrease in the need for invasive life-sustaining therapies such as ECMO. The remarkable advances in the unders...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:10.1016/j.clp.2004.04.001
更新日期:2004-09-01 00:00:00
abstract::Neutropenia is a relatively common problem in the NICU, recognized in as many as 8% of patients at some time during their hospital stay. In most instances, neutropenia among NICU patients is of short duration and has little influence on outcome. In other cases it is prolonged and severe, and constitutes a serious anti...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:10.1016/s0095-5108(05)70040-3
更新日期:2000-09-01 00:00:00
abstract::Severe combined immunodeficiency (SCID) encompasses a group of genetic defects. T cell development is universally affected and has alteration of B and/or NK cells. We present the case of a 5-day-old boy with combined heterozygous frame shift (c.256_257del, p.(Lys86Valfs*33)) and missense (c.1186C>T, p.(Arg396Cys)) var...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:10.1016/j.clp.2019.09.004
更新日期:2020-03-01 00:00:00
abstract::Prematurity is the leading cause of perinatal morbidity and mortality in the industrial world, occurring in 4% to 9% of all deliveries, a rate that has remained unchanged during the past decades. Despite the relative minority of obstetric patients affected by this problem, prematurity is responsible for approximately ...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:
更新日期:1998-09-01 00:00:00
abstract::Extracorporeal membrane oxygenation (ECMO) has gained notoriety recently as a treatment of last resort for neonates at term or near term who suffer from pulmonary failure. Because of serious inherent risks, the procedure is at present reserved for infants with reversible pulmonary disease who have failed conventional ...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:
更新日期:1988-12-01 00:00:00
abstract::Despite advances in neonatal medicine, the mortality rate for congenital diaphragmatic hernia remains high. The results of work in animal models suggest that this anomaly may be amenable to in utero surgical correction. In this article, the natural history of congenital diaphragmatic hernia in humans is reviewed, and ...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:
更新日期:1996-09-01 00:00:00
abstract::Cytomegalovirus (CMV) is reactivated in the lactating breast in up to 96% of CMV seropositive mothers. There is a relevant entity of postnatally acquired symptomatic CMV infection and disease of preterm infants through raw breast milk (BM). Actual data support negative influence on long-term cognitive development. Con...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:10.1016/j.clp.2016.11.012
更新日期:2017-03-01 00:00:00
abstract::For more than 100 years, three principles have guided the treatment of neonatal asphyxia: maintain body heat, free air passages of obstructions, and stimulate respiration by supplying air to the lungs for oxygenation of the blood. This article addresses the question of which gas, air or 100% oxygen, is best supplied t...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:10.1016/j.clp.2005.11.003
更新日期:2006-03-01 00:00:00
abstract::Liquid breathing has been in medical literature for nearly 80 years and has been proposed as a means of improving gas exchange in critically ill infants since the 1970s. Extensive laboratory experience with perfluorochemical liquid ventilation has lead to clinical trials in infants, children, and adults. This article ...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:
更新日期:1998-03-01 00:00:00
abstract::Retinopathy of Prematurity (ROP) is a leading cause of childhood blindness in the United States. Optical Coherence Tomography (OCT) is a relatively new imaging technology capable of imaging ocular structures in cross section at high resolution. We present an age-customized approach to perform Spectral Domain OCT in ne...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:10.1016/j.clp.2013.02.007
更新日期:2013-06-01 00:00:00
abstract::The incidence of neonatal abstinence syndrome owing to prenatal opioid exposure has grown rapidly in recent decades and it disproportionately affects rural, non-white, and public insurance-dependent populations. Treatment consists of pharmacologic and nonpharmacologic interventions with wide variability in approaches ...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:10.1016/j.clp.2019.08.012
更新日期:2019-12-01 00:00:00
abstract::Neonatal stress responses have been investigated only in recent years. Term neonates mount substantial hormonal and metabolic responses, which are distinct from those of adult patients. These responses can be altered significantly by the effects of prematurity, the effects of graded surgical stress, and the anesthetic...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:
更新日期:1990-03-01 00:00:00
abstract::Our experience in the management of 138 infants with various causes of intestinal obstruction has provided us with important principles of diagnosis and treatments that we adhere to in the course of our practice. 1. The overall mortality of neonates suffering from intestinal obstruction should be fewer than 5 per cent...
journal_title:Clinics in perinatology
pub_type: 杂志文章
doi:
更新日期:1989-03-01 00:00:00
abstract::Congenital diaphragmatic hernia results in abnormal lung development. There is a global hypoplasia with both lungs affected, the ipsilateral lung more severely. This results in a reduction in the number of bronchial divisions and a decrease in the quantity and maturity of the alveoli. The pneumocytes are dysfunctional...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:
更新日期:1996-12-01 00:00:00
abstract::The extensive data from animal models of BPD and specific aspects of lung injury have helped to expand and refine the concept of pathogenesis introduced by Northway et al. Given the complexity and heterogeneity of the human illness, it is unreasonable to presume that any single model or research group could elucidate ...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:
更新日期:1992-09-01 00:00:00
abstract::Necrotizing enterocolitis (NEC) is a devastating bowel necrosis that predominantly affects preterm infants and is characterized by an imbalance toward a proinflammatory state. Fish oil or omega-3 long-chain polyunsaturated fatty acids have the potential to modulate inflammation. In this article, the authors examine th...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:10.1016/j.clp.2018.09.004
更新日期:2019-03-01 00:00:00