Abstract:
PURPOSE OF REVIEW:Inherited disorders of calcium and phosphate homeostasis have variable presentation and can cause significant morbidity. An understanding of the mode of inheritance and pathophysiology of these conditions will help in the diagnosis and early institution of therapy. RECENT FINDINGS:Identification of genetic mutations in humans and animal models has advanced our understanding of many inherited disorders of calcium and phosphate regulation. Identification of mutations of calcium-sensing receptor has improved our understanding of hypocalcemic and hypercalcemic conditions. Mutations of Fgf23, Klotho and phosphate transporter genes have been identified to cause disorders of phosphate metabolism. SUMMARY:Calcium and phosphate homeostasis is tightly regulated in a narrow range due to their vital role in many biological processes. Inherited disorders of calcium and phosphate metabolism though uncommon can have severe morbidity. Genetic counseling of the affected families is an important part of the follow-up of these patients.
journal_name
Curr Opin Pediatrjournal_title
Current opinion in pediatricsauthors
Gattineni Jdoi
10.1097/MOP.0000000000000064subject
Has Abstractpub_date
2014-04-01 00:00:00pages
215-22issue
2eissn
1040-8703issn
1531-698Xjournal_volume
26pub_type
杂志文章abstract::Tarsal coalition is a common abnormality of the hindfoot skeleton that only rarely leads to symptoms. These symptoms occur most commonly in adolescence but rarely can be found also in adults. Although most coalitions are congenital, as the consequence of autosomal dominant inheritance, coalitions also can be acquired ...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-200102000-00005
更新日期:2001-02-01 00:00:00
abstract::Genetic causes account for 20% to 25% of human birth defects, but the largest proportion of birth defects have no definitive etiology and some of these malformations may be due to intrinsic, "nonpreventable" spontaneous errors of development. Environmental causes, which include maternal disease states, maternal infect...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-199304000-00012
更新日期:1993-04-01 00:00:00
abstract:PURPOSE OF REVIEW:P450 oxidoreductase deficiency--a newly described form of congenital adrenal hyperplasia--typically presents a steroid profile suggesting combined deficiencies of steroid 21-hydroxylase and 17alpha-hydroxylase/17,20-lyase activities. These and other enzymes require electron donation from P450 oxidored...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/01.mop.0000236395.71956.5c
更新日期:2006-08-01 00:00:00
abstract:PURPOSE OF REVIEW:The management of displaced medial humeral epicondyle fractures in children remains controversial. The indications for surgery, the ideal surgical strategy and the implications of a painful nonunion remain unclear. RECENT FINDINGS:This article describes the state of the evidence and the art in the ma...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0000000000000707
更新日期:2019-02-01 00:00:00
abstract::Risk factors for infant development are considered in three areas: infant temperament, postpartum depression, and prenatal cocaine exposure. Investigations of all three areas indicate that contextual characteristics of infant development must be incorporated into models attempting to link early risk factors with later...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-199408000-00009
更新日期:1994-08-01 00:00:00
abstract::In the 7 years since the cystic fibrosis (CF) gene has been cloned, many experimental trials of population screening for CF heterozygotes have been reported. Targeting young adults near reproductive age has shown that the method in which screening is offered is a major determinant of acceptance rates: personal invitat...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-199612000-00016
更新日期:1996-12-01 00:00:00
abstract::Several advances in understanding Hirschsprung's disease have developed in the past year. A greater understanding of the etiology of the disease has developed through the association of Hirschsprung's disease with a lack of neural cell adhesion molecule expression and nitric oxide in aganglionic portions of the bowel....
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-199506000-00014
更新日期:1995-06-01 00:00:00
abstract:PURPOSE OF REVIEW:Developmental speech and language disorders are common, seen in one in 20 preschool children, in the absence of frank neurological deficits or intellectual impairment. They are a key reason parents seek help from paediatricians. Complex neurogenetic and environmental contributions underpin the disorde...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0000000000000420
更新日期:2016-12-01 00:00:00
abstract:PURPOSE OF REVIEW:Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous disorder involving benign growths in multiple organ systems of affected patients. Variable phenotypes from mild to severe have been reported for related as well as unrelated patients affected by TSC. The two causative genes, TSC1...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0b013e328318c529
更新日期:2008-12-01 00:00:00
abstract:PURPOSE OF REVIEW:Selective mutism is a disorder in which an individual fails to speak in certain social situations though speaks normally in other settings. Most commonly, this disorder initially manifests when children fail to speak in school. Selective mutism results in significant social and academic impairment in ...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0000000000000300
更新日期:2016-02-01 00:00:00
abstract:PURPOSE OF REVIEW:Nonaccidental trauma and neglect continue to be major problems for children, families, and the providers who care for them. Whereas prevention is the key to ending child abuse and neglect, diagnosis and treatment continue to be the mainstays of practice. This article will briefly review the epidemiolo...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-200404000-00022
更新日期:2004-04-01 00:00:00
abstract:PURPOSE OF REVIEW:Slipped capital femoral epiphysis (SCFE) is the most common adolescent hip condition. Its importance lies in its high morbidity if not diagnosed and treated in its early stages, not only in childhood but also as a cause of osteoarthritis in adulthood. This article highlights key diagnostic tools and o...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0b013e328320acea
更新日期:2009-02-01 00:00:00
abstract::Bone marrow transplantation has become well established in the treatment of malignant and nonmalignant disorders. Steady progress continues in improving survival after transplantation, but many problems remain to be solved. Relapsed disease is a major limitation, and new, more intensive preparative regimens are being ...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-199302000-00016
更新日期:1993-02-01 00:00:00
abstract::Acute bacterial rhinosinusitis is an infection of the nasal epithelium and paranasal sinus mucosa, usually caused in children by Streptococcus pneumoniae, Haemophilus influenzae, Moraxella catarrhalis, and, less frequently, group A Streptococcus species. The clinical diagnosis is based on daytime cough that may be wor...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-200202000-00015
更新日期:2002-02-01 00:00:00
abstract:PURPOSE OF REVIEW:The current review describes recent advances and unique challenges in precision medicine for pediatric cancers and highlights clinical trials assessing the clinical impact of targeted therapy matched to molecular alterations identified by tumor profiling. RECENT FINDINGS:Multiple prospective clinical...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0000000000000570
更新日期:2018-02-01 00:00:00
abstract:PURPOSE OF REVIEW:The interstitial lung diseases are a heterogeneous group of rare disorders of largely unknown etiology. The occurrence of familial cases of pediatric interstitial lung diseases with the onset of symptoms developing early in infancy has suggested a genetic basis for some forms of interstitial lung dise...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/01.mop.0000193310.22462.1f
更新日期:2006-06-01 00:00:00
abstract:PURPOSE OF REVIEW:The aim of this review is to summarize the recent literature investigating nonoperative management of uncomplicated and complicated appendicitis and highlight recent data establishing its safety and efficacy. RECENT FINDINGS:Recent studies and clinical trials have demonstrated the efficacy of nonoper...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0000000000000487
更新日期:2017-06-01 00:00:00
abstract:PURPOSE OF REVIEW:Spondylolysis is a common cause for back pain in the adolescent athlete. Increased awareness of the presentation of this subset of patients can aid in optimal outcomes. This paper aims to review the typical presentation of spondylolysis in the adolescent with specific focus on the adolescent athlete. ...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0b013e32834255c2
更新日期:2011-02-01 00:00:00
abstract:PURPOSE OF REVIEW:SARS-CoV-2 is the novel human coronavirus responsible for the COVID19 pandemic. Accurate detection of infection with SARS-CoV-2 is an essential component of efforts to treat individual patients and to contain spread of the virus in the community. The purpose of this review is to describe current diagn...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0000000000000972
更新日期:2021-02-01 00:00:00
abstract:PURPOSE OF REVIEW:The International Liaison Committee on Resuscitation (ILCOR) recommends initiating neonatal resuscitation with concentrations of oxygen between 21 and 100%. This wide range of oxygen concentrations recommended for resuscitation highlights the lack of evidence supporting either 21 or 100% O2. The purpo...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0b013e32832925b8
更新日期:2009-04-01 00:00:00
abstract:PURPOSE OF REVIEW:To emphasize an exploration of mechanisms of kidney stone disease based on a molecular understanding of excess urinary excretions of calcium, oxalate, cystine, and uric acid. RECENT FINDINGS:Hypercalciuria is discussed relative to mutations in the renal chloride genes CLCN5 and CLCNKB, WNK kinases, A...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-200404000-00013
更新日期:2004-04-01 00:00:00
abstract::von Willebrand disease (VWD) is a bleeding disorder caused by quantitative (type 1 and 3) or qualitative (type 2) defects of von Willebrand factor (VWF). The mechanisms of most inherited VWD types have been recently elucidated by genetic and molecular diagnosis, but the phenotypic tests based on measurements of plasma...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-200202000-00005
更新日期:2002-02-01 00:00:00
abstract:PURPOSE OF REVIEW:Considerable attention has recently been focused on the pathogenesis, diagnosis and treatment of osteogenesis imperfecta. Two new genes have been defined in patients with recessive severe or lethal osteogenesis imperfecta types. Diagnostic concerns involve testing procedures, either skin biopsies or D...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0b013e328332c68f
更新日期:2009-12-01 00:00:00
abstract::Recent neonatal intensive care outcome studies are asking more focused research questions and incorporating, at least implicitly, pathogenetic models. A few have grappled with the complex issues of health-related quality of life and functional outcomes and the many factors that affect these outcomes. The need to evalu...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-200004000-00005
更新日期:2000-04-01 00:00:00
abstract:PURPOSE OF REVIEW:Concern regarding appendicitis is a common reason for presentation to the paediatric emergency department. We review recent progress in the use of biomarkers, imaging and clinical scoring systems in improving diagnostic accuracy in suspected appendicitis in children. RECENT FINDINGS:Use of ultrasound...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0000000000000749
更新日期:2019-06-01 00:00:00
abstract:PURPOSE OF REVIEW:This review will be covering dysfunctional voiding, its diagnosis, and treatment options. This will focus primarily on dysfunctional voiding rather than all lower urinary tract dysfunction and we will focus on some of the newer findings and progress within this disease. RECENT FINDINGS:Dysfunctional ...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章
doi:10.1097/MOP.0000000000000980
更新日期:2020-12-10 00:00:00
abstract::A number of growth factors have been identified that participate in lung growth and repair. The early stages of the repair cascade are important in preventing the later development of fibrosis. Both transforming growth factor-beta and basic fibroblast growth factor can have beneficial effects when given early in some ...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-199506000-00002
更新日期:1995-06-01 00:00:00
abstract::Endocrine excesses or deficiencies frequently result in alterations of height as compared with age-matched children. Less clinically obvious are significant alterations in bone metabolism leading to osteoporosis, which can affect the child and may affect the patient as an adult. Slipped capital femoral epiphysis appea...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-199602000-00015
更新日期:1996-02-01 00:00:00
abstract:PURPOSE OF REVIEW:Joint hypermobility is a common, although largely ignored physical sign. Joint hypermobility is often asymptomatic but may be a feature of an underlying genetic disorder with systemic manifestations. The present article presents a comprehensive approach to considering joint hypermobility and clinicall...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0000000000000541
更新日期:2017-12-01 00:00:00
abstract:PURPOSE OF REVIEW:The literature was reviewed to describe the role of gait analysis in the orthopaedic management of ambulatory children with cerebral palsy and examine the current best evidence to support these roles. RECENT FINDINGS:Gait laboratory analysis is superior to visual or observational analysis of gait bec...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0b013e3280118a6d
更新日期:2007-02-01 00:00:00