Evaluation of Parathyroid Gland Function Using Sodium Bicarbonate Infusion Test for 22q11.2 Deletion Syndrome

2011 ◽  
Vol 75 (1) ◽  
pp. 14-18 ◽  
Author(s):  
Keisuke Nagasaki ◽  
Yasumasa Iwasaki ◽  
Yohei Ogawa ◽  
Toru Kikuchi ◽  
Makoto Uchiyama
Keyword(s):  
Sodium Bicarbonate ◽  
Parathyroid Gland ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
Infusion Test ◽  
22Q11.2 Deletion ◽  
Gland Function ◽  
Bicarbonate Infusion ◽  
Sodium Bicarbonate Infusion

scholarly journals Patterns in the Parathyroid Response to Sodium Bicarbonate Infusion Test in Healthy Volunteers

2014 ◽  
Vol 2014 ◽  
pp. 1-5 ◽  
Author(s):  
Theodossis S. Papavramidis ◽  
Olympia E. Anastasiou ◽  
Ioannis Pliakos ◽  
Nick Michalopoulos ◽  
Mike Polyzonis ◽  
...  
Keyword(s):  
Vitamin D ◽  
Sodium Bicarbonate ◽  
Healthy Volunteers ◽  
Infusion Test ◽  
Normal Individuals ◽  
Vitamin D Levels ◽  
Significant Difference ◽  
Low Levels ◽  
Bicarbonate Infusion ◽  
Sodium Bicarbonate Infusion

Background. The sodium bicarbonate infusion test evaluates the function of the parathyroid glands. The present study aims to evaluate the range of parathyroid response in healthy individuals and the potential influence of various factors.Methods. Fifty healthy volunteers were subjected to the test. Levels of vitamin D, calcium, albumin, and PTH were measured before infusion. PTH was measured at 3, 5, 10, 30, and 60 minutes after infusion.Results. A curve describing the response of parathyroids to the test was drawn. Twenty percent of the subjects had blunted PTH response. No significant difference was observed between normal and blunted responders concerning age, BMI, baseline PTH, or calcium levels. Nonetheless, there was a significant difference in vitamin D levels (P=0.024).Interpretation. The test is easy to perform and may be used for everyday screening. It has to be clarified whether our observations are, at least partly, produced due to the presence of individuals with a constitutively blunted response or if low levels of vitamin D decrease the ability of the parathyroids to respond. Whichever the case, PTH response of normal individuals to sodium bicarbonate infusion test is more varied than previously thought and vitamin D levels influence it.

Parathyroid Gland Dysfunction in 22q11.2 Deletion Syndrome

2006 ◽  
Vol 67 (3) ◽  
pp. 117-122 ◽  
Author(s):  
Fayza Al-Jenaidi ◽  
Outi Mäkitie ◽  
Eyal Grunebaum ◽  
Etienne Sochett
Keyword(s):  
Parathyroid Gland ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion

scholarly journals Sodium Bicarbonate Infusion Test: A New Method for Evaluating Parathyroid Function

2003 ◽  
Vol 50 (5) ◽  
pp. 545-551 ◽  
Author(s):  
Yasumasa IWASAKI ◽  
Noriko MUTSUGA ◽  
Etsuko YAMAMORI ◽  
Ayako KAKITA ◽  
Yutaka OISO ◽  
...  
Keyword(s):  
Sodium Bicarbonate ◽  
New Method ◽  
Infusion Test ◽  
Parathyroid Function ◽  
Bicarbonate Infusion ◽  
Sodium Bicarbonate Infusion

Surgical Management of Patients With 22q11.2 Deletion Syndrome

2019 ◽  
Vol 4 (5) ◽  
pp. 857-869
Author(s):  
Oksana A. Jackson ◽  
Alison E. Kaye
Keyword(s):  
Surgical Management ◽  
Preoperative Evaluation ◽  
Preoperative Assessment ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Surgical Decision ◽  
Obstructive Sleep ◽  
Spine Abnormalities ◽  
Speech Assessment

Purpose The purpose of this tutorial was to describe the surgical management of palate-related abnormalities associated with 22q11.2 deletion syndrome. Craniofacial differences in 22q11.2 deletion syndrome may include overt or occult clefting of the palate and/or lip along with oropharyngeal variances that may lead to velopharyngeal dysfunction. This chapter will describe these circumstances, including incidence, diagnosis, and indications for surgical intervention. Speech assessment and imaging of the velopharyngeal system will be discussed as it relates to preoperative evaluation and surgical decision making. Important for patients with 22q11.2 deletion syndrome is appropriate preoperative screening to assess for internal carotid artery positioning, cervical spine abnormalities, and obstructive sleep apnea. Timing of surgery as well as different techniques, common complications, and outcomes will also be discussed. Conclusion Management of velopharyngeal dysfunction in patients with 22q11.2 deletion syndrome is challenging and requires thoughtful preoperative assessment and planning as well as a careful surgical technique.

Psychosocial Risks and Management for Children and Adolescents With 22q11.2 Deletion Syndrome

2019 ◽  
Vol 4 (4) ◽  
pp. 633-640 ◽  
Author(s):  
Canice E. Crerand ◽  
Ari N. Rabkin
Keyword(s):  
Cognitive Abilities ◽  
Psychotic Disorders ◽  
Developmental Stages ◽  
Early Adulthood ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Psychosocial Risks ◽  
Empirically Supported ◽  
Specific Education

Purpose This article reviews the psychosocial risks associated with 22q11.2 deletion syndrome, a relatively common genetic condition associated with a range of physical and psychiatric problems. Risks associated with developmental stages from infancy through adolescence and early adulthood are described, including developmental, learning, and intellectual disabilities as well as psychiatric disorders including anxiety, mood, and psychotic disorders. Other risks related to coping with health problems and related treatments are also detailed for both affected individuals and their families. Conclusion The article ends with strategies for addressing psychosocial risks including provision of condition-specific education, enhancement of social support, routine assessment of cognitive abilities, regular mental health screening, and referrals for empirically supported psychiatric and psychological treatments.

Conotruncal heart defects and aortic arch anomalies in fetuses with 22q11.2 deletion syndrome

2020 ◽  
Author(s):  
I.V. Novikova, O.M. Khurs, T.V. Demidovich et all
Keyword(s):  
Aortic Arch ◽  
Heart Defects ◽  
22Q11.2 Deletion Syndrome ◽  
Ventricular Outflow Tract ◽  
Double Outlet Right Ventricle ◽  
Interrupted Aortic Arch ◽  
Left Ventricular ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Aortic Arch Anomalies

16 second trimester fetuses with 22q11.2 deletion syndrome have been examined at anatomic-pathological investigation. Main cardiovascular diseases were ascending aorta hypoplasia with aortic valve stenosis (n = 6; 37.5%), truncus arteriosus (n = 5; 31.25%), tetralogy of Fallot (n = 3; 18.75%) and double-outlet right ventricle (n = 1; 6.25%). Ventricular septal defect was present in 16 cases. Associated aortic arch anomalies included interrupted aortic arch (n = 9; 56.25%), right aortic arch (n = 6; 37.5%), retroesophageal ring (n = 1; 6.25%) and aberrant right subclavian arteria (n = 5; 31.25%). 5 fetuses had left ventricular outflow tract obstructive lesions with interrupted aortic arch of type B combined with aberrant right subclavian arteria.

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