Abstract:
:Advances in genetics, including mapping the human genome, improved therapy for genetic disorders, recognition of the role of genetic factors in common diseases of adulthood, and new screening tests for carrier detection and presymptomatic diagnosis create an increased demand for and awareness of clinical genetic services. These services, focusing on diagnosis, management, and genetic counseling, had been supported by a variety of state, provincial, federal, and foundation grants. As clinical genetics has evolved from a service with roots in research provided solely at academic medical centers to one widely available in the community, the services in the United States are increasingly provided on a fee-for-service basis in various settings including private hospitals, state-supported outreach clinics, and free-standing genetics centers, whereas in Canada they are generally based in university hospital settings and are covered by universal health care. Given the limited numbers of clinical geneticists and genetic counselors now practicing, much of the application in this decade of new genetic technologies and knowledge will fall upon primary care physicians.
journal_name
Pediatr Clin North Amjournal_title
Pediatric clinics of North Americaauthors
Bernhardt BA,Pyeritz REdoi
10.1016/s0031-3955(16)38259-1subject
Has Abstractpub_date
1992-02-01 00:00:00pages
1-12issue
1eissn
0031-3955issn
1557-8240pii
S0031-3955(16)38259-1journal_volume
39pub_type
杂志文章abstract::Chronic musculoskeletal pain is becoming increasingly common in young athletes. When these athletes do not respond well to standard treatments, for example physical theraphy and anti-inflammatories, other diagnoses must be considered, such as reflex sympathetic dystrophy, fibromyalgia, and/or overtraining syndrome. ...
journal_title:Pediatric clinics of North America
pub_type: 杂志文章,评审
doi:10.1016/s0031-3955(02)00008-1
更新日期:2002-06-01 00:00:00
abstract::Spinal deformity is a relatively common disorder, particularly in teenage girls. Early detection is possible by a simple, quick visual inspection that should be a standard part of the routine examination of all preteen and teenage patients. Follow-up observation will reveal those curvatures that are progressive and pe...
journal_title:Pediatric clinics of North America
pub_type: 杂志文章
doi:10.1016/s0031-3955(16)36155-7
更新日期:1986-12-01 00:00:00
abstract::Traumatic injuries represent the most important threat to the health of children in the United States and are the leading cause of death after the first year of life. More than 20,000 children and young adults will die this year as a result of injury. For every child that dies, another 40 will require hospitalization ...
journal_title:Pediatric clinics of North America
pub_type: 杂志文章
doi:10.1016/s0031-3955(05)70049-3
更新日期:1998-08-01 00:00:00
abstract::Sepsis remains a major clinical problem in children, with a high mortality rate. Recent discoveries have identified the major cytokines involved in sepsis and several anticytokine strategies have been used in clinical trials. Antiendotoxin, anticytokine, and even steroid therapy have been studied in humans, with limit...
journal_title:Pediatric clinics of North America
pub_type: 杂志文章,评审
doi:10.1016/s0031-3955(05)70469-7
更新日期:1997-02-01 00:00:00
abstract::Recently, great progress has been made in the development of vaccines against Hib. Four polysaccharide-protein conjugate vaccines are actively being tested. Three of these (PRP-D, HbOC, and PRP-OMP) are currently licensed for use in children at 15-18 months of age. Clinical trials of these vaccines in infants are curr...
journal_title:Pediatric clinics of North America
pub_type: 杂志文章,评审
doi:10.1016/s0031-3955(16)36905-x
更新日期:1990-06-01 00:00:00
abstract::The innate immune response system forms an important line of defense by deploying a limited number of receptors specific for conserved microbial components. This deployment generates a rapid inflammatory response, while activating the adaptive immune system. Improvements in our understanding of the innate immune syste...
journal_title:Pediatric clinics of North America
pub_type: 杂志文章,评审
doi:10.1016/j.pcl.2019.06.011
更新日期:2019-10-01 00:00:00
abstract::In this article the practitioner's role in newborn screening were summarized and guidelines to assist in their execution were provided. The authors summarized the tests that are currently used in North America and provided a short discussion of current and future issues in this area. Newborn screening is no longer a s...
journal_title:Pediatric clinics of North America
pub_type: 杂志文章,评审
doi:10.1016/s0031-3955(16)38291-8
更新日期:1992-04-01 00:00:00
abstract::With the recent mandate for early intervention services, the pediatrician is more involved than ever in the identification and evaluation of children with developmental disabilities. Developmental surveillance at routine visits and listening to parental concerns are crucial in the early diagnosis of developmental dela...
journal_title:Pediatric clinics of North America
pub_type: 杂志文章,评审
doi:10.1016/s0031-3955(16)38544-3
更新日期:1993-06-01 00:00:00
abstract::The formulation of a diagnosis in a child who has neurologic impairment should not (except in extreme circumstances) be made on the basis of a single finding. For example, the presence of delayed milestones, primitive or exaggerated reflexes, abnormal muscle tone, abnormal posture, abnormal neurologic examination, and...
journal_title:Pediatric clinics of North America
pub_type: 杂志文章
doi:10.1016/s0031-3955(05)70586-1
更新日期:1998-02-01 00:00:00
abstract::Most ocular and orbital tumors of childhood are distinct from tumors that occur in adults. Many are congenital with early presentations. Most pediatric orbital tumors are benign; developmental cysts comprise half of orbital cases, with capillary hemangioma being the second most common orbital tumor. The most common or...
journal_title:Pediatric clinics of North America
pub_type: 杂志文章,评审
doi:10.1016/s0031-3955(02)00115-3
更新日期:2003-02-01 00:00:00
abstract::Medications to treat children with rheumatic disease include disease-modifying antirheumatic drugs, glucocorticosteroids, and biologic response modifiers that target mediators and cells involved in autoimmunity and inflammation. Although usually well-tolerated, such medications have many possible side effects, of whic...
journal_title:Pediatric clinics of North America
pub_type: 杂志文章,评审
doi:10.1016/j.pcl.2018.04.008
更新日期:2018-08-01 00:00:00
abstract::The management of chronic cough, a common complaint in children, is challenging for most health care professionals. Millions of dollars are spent every year on unnecessary testing and treatment. A rational approach based on a detailed interview and a thorough physical examination guides further intervention and manage...
journal_title:Pediatric clinics of North America
pub_type: 杂志文章,评审
doi:10.1016/j.pcl.2013.04.004
更新日期:2013-08-01 00:00:00
abstract::Ample evidence shows that what was formerly called "juvenile rheumatoid arthritis" is not a single disease. At least six separate diseases were included as subgroups or subtypes of juvenile rheumatoid arthritis in other classifications. The clinical and laboratory features that differentiate these diseases are discuss...
journal_title:Pediatric clinics of North America
pub_type: 杂志文章,评审
doi:10.1016/s0031-3955(16)40057-x
更新日期:1995-10-01 00:00:00
abstract::Genetic and environmental factors (breast feeding, probably viral infections) play a role in the expression of the disease. Prevalence of GSE in childhood did not substantially decrease in the last 15 years in all European countries, where GSE is still more common in infantile age and presents frequently gastrointesti...
journal_title:Pediatric clinics of North America
pub_type: 杂志文章,评审
doi:10.1016/s0031-3955(16)36405-7
更新日期:1988-02-01 00:00:00
abstract::Prevention of enuresis has not been studied directly. Positive results from a randomized clinical trial evaluating early intervention for children at risk for enuresis would establish the value of prevention and help to promote its practice. Enuresis is not a disease process, and therefore a clinical trial may never b...
journal_title:Pediatric clinics of North America
pub_type: 杂志文章
doi:10.1016/s0031-3955(16)36078-3
更新日期:1986-08-01 00:00:00
abstract::Asthmatic children living in low-income families in United States inner city communities continue to have disproportionately high rates of hospitalizations, emergency department visits, disability, and death. Current research implicates a combination of environmental, biologic, and disease mismanagement factors that u...
journal_title:Pediatric clinics of North America
pub_type: 杂志文章,评审
doi:10.1016/s0031-3955(03)00045-2
更新日期:2003-06-01 00:00:00
abstract::Endocrine disorders are common in infants in the neonatal ICU. They often are associated with prematurity, low birth weight or very low birth weight, and small size for gestational age. They also frequently occur in infants who are critically ill or stressed. This article describes the most common conditions and curre...
journal_title:Pediatric clinics of North America
pub_type: 杂志文章,评审
doi:10.1016/j.pcl.2011.07.003
更新日期:2011-10-01 00:00:00
abstract::Intestinal failure (IF) is the ultimate malabsorption state, with multiple causes, requiring long-term therapy with enteral or intravenous fluids and nutrient supplements. The primary goal during management of children with potentially reversible IF is to promote intestinal autonomy while supporting normal growth, nut...
journal_title:Pediatric clinics of North America
pub_type: 杂志文章,评审
doi:10.1016/j.pcl.2009.07.005
更新日期:2009-10-01 00:00:00
abstract::Overdose of a tricyclic antidepressant is a serious and all-too-frequent occurrence. The diagnosis must be considered in known or suspected overdoses, and signs such as a dry axilla, tachycardia, and wide QRS must be specifically sought. Management depends upon support of vital functions and a thorough understanding o...
journal_title:Pediatric clinics of North America
pub_type: 杂志文章,评审
doi:10.1016/s0031-3955(16)35002-7
更新日期:1986-04-01 00:00:00
abstract::Varicella zoster virus (VZV), herpes simplex virus (HSV) and cytomegalovirus (CMV) are all members of the Herpesviridae family.Humans are the only source of infection for these double stranded DNA viruses. Infants may acquire these infections in utero, peripartum, or postnatally, resulting in a variety of clinical syn...
journal_title:Pediatric clinics of North America
pub_type: 杂志文章,评审
doi:10.1016/j.pcl.2004.03.005
更新日期:2004-08-01 00:00:00
abstract::Neonatal surgery has reached a high degree of sophistication. We are now entering a new era of widespread screening of the unborn by means of ultrasound, with planned intrauterine, intrapartum, and immediate postpartum interventions. Many pediatric surgical centers are now focusing their investigative efforts on eluci...
journal_title:Pediatric clinics of North America
pub_type: 杂志文章,评审
doi:10.1016/s0031-3955(05)70031-6
更新日期:1998-06-01 00:00:00
abstract::The author discusses his experience with the flexible bronchoscope, covering current instrumentation, techniques, and indications and contraindications, showing that, when used carefully by a well-trained physician, the flexible bronchoscope is a safe, relatively simple, and effective tool for exploration of the pedia...
journal_title:Pediatric clinics of North America
pub_type: 杂志文章
doi:10.1016/s0031-3955(16)34645-4
更新日期:1984-08-01 00:00:00
abstract::Spina bifida occurs when the neural tube fails to close during early fetal development, resulting in a range of neural tube defects (NTDs). The cause of spina bifida is not fully understood, but scientists believe that NTDs are the result of genetic and environmental factors acting simultaneously. The Centers for Dise...
journal_title:Pediatric clinics of North America
pub_type: 杂志文章,评审
doi:10.1016/j.pcl.2010.07.019
更新日期:2010-08-01 00:00:00
abstract::The application of the principles underlying successful renal transplantation in children has led us to increasing success in achieving our goals, which involve more than simple renal function replacement and include effective growth in stature, skeletal and central nervous system development, as well as social develo...
journal_title:Pediatric clinics of North America
pub_type: 杂志文章
doi:10.1016/s0031-3955(16)36327-1
更新日期:1987-10-01 00:00:00
abstract::As new therapies for pediatric asthma are approved by the Food and Drug Administration, clinicians should be aware of their benefits and limitations. Accompanying these therapies are potential obstacles, including the delivery of inhaled therapies and age-specific issues regarding implementation and adherence. New ins...
journal_title:Pediatric clinics of North America
pub_type: 杂志文章,评审
doi:10.1016/j.pcl.2017.08.001
更新日期:2017-12-01 00:00:00
abstract::Although progress had been made in reducing cardiovascular disease (CVD) mortality, the positive trend has reversed in recent years, and CVD remains the most common cause of mortality in US women and men. Youth represent the future of CVD prevention; emerging evidence suggests exposure to risk factors in children cont...
journal_title:Pediatric clinics of North America
pub_type: 杂志文章,评审
doi:10.1016/j.pcl.2020.06.006
更新日期:2020-10-01 00:00:00
abstract::Injury is the most important threat to the health of children in the United States and the leading cause of death after the first year of life. Injuries must be viewed as diseases that can be prevented by using principles of epidemiology, engineering, biomechanics, and health education. Effective preventative strategi...
journal_title:Pediatric clinics of North America
pub_type: 杂志文章
doi:10.1016/s0031-3955(16)38666-7
更新日期:1993-12-01 00:00:00
abstract::Many pediatric patients and their families use dietary supplements and homeopathy. They do not always disclose this information to their health care practitioners. It is important that health care practitioners are aware of the research available in these areas and discuss the use of these products openly with their p...
journal_title:Pediatric clinics of North America
pub_type: 杂志文章,评审
doi:10.1016/j.pcl.2007.10.005
更新日期:2007-12-01 00:00:00
abstract::Fluid homeostasis requires adequate water intake, regulated by an intact thirst mechanism and appropriate free water excretion by the kidneys, mediated by appropriate secretion of arginine vasopressin (AVP, also known as antidiuretic hormone). AVP exerts its antidiuretic action by binding to the X chromosome-encoded V...
journal_title:Pediatric clinics of North America
pub_type: 杂志文章
doi:10.1016/j.pcl.2011.07.013
更新日期:2011-10-01 00:00:00
abstract::Based on the current knowledge of pulmonary mechanics and the results of clinical studies, we have reviewed principles that govern gas exchange during assisted ventilation in infants with RDS. Guidelines for changes in ventilator settings have been presented with respect to their specific effects on CO2 elimination an...
journal_title:Pediatric clinics of North America
pub_type: 杂志文章,评审
doi:10.1016/s0031-3955(16)34977-x
更新日期:1986-02-01 00:00:00