Bone Age Estimation for Whom by Whom? By Which Method?
Authors: Laron Z
Abstract
Bone (skeletal) age determination is the simplest and most used index for the assessment of developmental and physiological age in healthy children and those with growth disorders. At present the test is done by manual or automated reading of the hand and wrist X-rays, necessitating two visits by the child: to the pediatrician and radiology departments. A newly developed simple quantitative ultrasound technique (QUST) using several hand and wrist bones, which can be performed in the pediatrician's office could combine the child's growth and biological age evaluation in one visit.
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Source: Pediatric Endocrinology Reviews - November 18, 2015 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research
Chromosomal Microarray Analysis (CMA) a Clinical Diagnostic Tool in the Prenatal and Postnatal Settings.
Authors: Batzir NA, Shohat M, Maya I
Abstract
Chromosomal microarray analysis (CMA) is a technology used for the detection of clinically-significant microdeietions or duplications, with a high sensitivity for submicroscopic aberrations. It is able to detect changes as small as 5-10Kb in size - a resolution up to 1000 times higher than that of conventional karyotyping. CMA is used for uncovering copy number variants (CNVs) thought to play an important role in the pathogenesis of a variety of disorders, primarily neurodevelopmental disorders and congenital anomalies. CMA may be applied in the prenatal or pos...
Source: Pediatric Endocrinology Reviews - November 18, 2015 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research
Association of Turner Syndrome and Growth Hormone Deficiency: A Review.
We describe a case of an 11 year old girl with short stature and karyotype confirmed TS: 45,X(16)46,X,i(X)(ql0)(13). Because her growth velocity was low (-3 SD), we evaluated the GH response with stimulating tests and the results were under the normal range. These findings were compatible with GHD. It is important to check for GHD in patients with TS whenever the growth velocity is low for age and sex.
PMID: 26540761 [PubMed - in process] (Source: Pediatric Endocrinology Reviews)
Source: Pediatric Endocrinology Reviews - November 18, 2015 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research
Precocious Puberty Following Traumatic Brain Injury in Early Childhood: A Review of the Literature.
CONCLUSIONS: The current review highlights the importance of close clinical follow-up to evaluate the rate of linear growth and pubertal development after TBI. Although, precocious puberty appears to be rare after TBI, prevalence should ideally be assessed by longitudinal follow-up of a large population. Therefore, further multicenter and multidisciplinary studies are required to explore in detail the true incidence and the possible mechanisms of CPP after TBI. Because precocious puberty can be detected on clinical assessment during childhood, a pragmatic approach would be for family physicians to monitor growth and develo...
Source: Pediatric Endocrinology Reviews - November 18, 2015 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research
Should Patients with Trichorhinophalangeal Syndrome be Tested for Growth Hormone Deficiency?
Authors: Marques JS, Maia C, Almeida R, Isidoro L, Dias C
Abstract
Type 1 Trichorhinophalangeal syndrome (TRPS) is characterized by typical facial and skeletal abnormalities. These patients frequently exhibit short stature; however, only one case with growth hormone (GH) deficiency can be found in the literature. Our patient is a 10-year-old girl with two novel nonsense pathogenic mutations in the TRPS1 gene, both in heterozygosity: c. 1198C>T (p. Gln400X) and c.2086C>T (p. Arg696X). She has an additional GH deficiency. The patient is short in stature, with a growth velocity of 1.5 cm per year (SDS -...
Source: Pediatric Endocrinology Reviews - November 18, 2015 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research
Nephrolithiasis and Nephrocalcinosis in Children - Metabolic and Genetic Factors.
Authors: Tasic V, Gucev Z
Abstract
Diagnosis and management of pediatric nephrolithiasis/nephrocalcinosis is a very complex and challenging task for every pediatrician. It is based on correct. disease history taking, which may guide to the mode of inheritance (dominant, recessive, x-linked). Ethnicity and consanguinity should also be investigated since they predispose to high prevalence of certain disorders. One should always begin with cheap and available screening tests. Herein we will review clinical, biochemical, metabolic and genetic characteristics of the inherited diseases which lead to nephrolithia...
Source: Pediatric Endocrinology Reviews - November 18, 2015 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research
Response to "Propranolol Induced Hypoglycemia" by Amir Horev, MD, Alon Haim, MD, Alex Zvulunov, MD.
Authors: Theiler M, Drolet BA, Frieden IJ
PMID: 26540765 [PubMed - indexed for MEDLINE] (Source: Pediatric Endocrinology Reviews)
Source: Pediatric Endocrinology Reviews - November 18, 2015 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research
Reply of the authors.
Authors: Horev A, Haim A, Zvulunov A
PMID: 26540766 [PubMed - indexed for MEDLINE] (Source: Pediatric Endocrinology Reviews)
Source: Pediatric Endocrinology Reviews - November 18, 2015 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research
2015 Annual Meeting of the Pediatric Endocrine Society San Diego, CA (April 25-27, 2015) Selected Highlights.
Authors: Serrano-Gonzalez M, Shepherd P, Alvarez G, Ryabets-Lienhard A
PMID: 26540767 [PubMed - in process] (Source: Pediatric Endocrinology Reviews)
Source: Pediatric Endocrinology Reviews - November 18, 2015 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research
