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1.
Monaldi Arch Chest Dis ; 90(4)2020 Dec 10.
Article in English | MEDLINE | ID: mdl-33305557

ABSTRACT

Noonan syndrome (NS) is a genetic multisystem disorder characterised by distinctive facial features, developmental delay, learning difficulties, short stature, congenital heart disease, renal anomalies, bleeding difficulties and lymphatic malformations. Although lymphatic dysplasias are present in 20% of patients with NS, however pulmonary lymphangiectasia has rarely been described. In this present paper, we report a 24-year-old male who was diagnosed with Noonan syndrome and primary pulmonary lymphangiectasia by using chest imaging modalities. A brief overview of the current literature is also provided laying emphasis on the clinical, pathogenetic and diagnostic aspects of this uncommon Noonan syndrome complication.


Subject(s)
Heart Defects, Congenital , Lung Diseases , Lymphangiectasis , Noonan Syndrome , Adult , Humans , Lymphangiectasis/diagnostic imaging , Male , Noonan Syndrome/complications , Noonan Syndrome/genetics , Young Adult
2.
J Bone Miner Metab ; 25(3): 198-203, 2007.
Article in English | MEDLINE | ID: mdl-17447119

ABSTRACT

Vitamin D deficiency characterized by low 25-hydroxyvitamin D [25(OH)D] levels has been found to be prevalent among the elderly in many regions of the world. To investigate the vitamin status in elderly community-living persons in Athens, we measured 25(OH)D and parathyroid hormone (PTH) in elderly persons and young blood donors during the winter and summer. The changes in these parameters in a subgroup of the elderly were studied longitudinally. The blood donors had mean 25(OH)D levels similar in winter and summer and twice as high in winter compared to the elderly. At the end of the winter, about 20% of the elderly had severe vitamin D deficiency, with 25(OH)D below 25 nmol/l, and only 6.5% could be judged as vitamin D sufficient with values above 80 nmol/l. The situation improved during summer, although 64.8% of the elderly continued to have levels below 80 nmol/l. Mean plasma PTH in the elderly in summer was not different from that of blood donors; however, it was doubled during the winter. Regression of PTH on 25(OH)D demonstrated that PTH starts to rise when 25(OH)D falls below approximately 80 nmol/l. We conclude that severe vitamin deficiency associated with secondary hyperparathyroidism is not uncommon in the elderly in Athens during the winter; it subsides during summer, although only one-third of the elderly population attain vitamin D sufficiency during summer. We found that a threshold value of 25(OH)D exists at approximately 80 nmol/l, below which secondary hyperparathyroidism ensues, as described previously.


Subject(s)
Vitamin D Deficiency/blood , Vitamin D Deficiency/epidemiology , Aged , Aged, 80 and over , Creatinine/blood , Female , Greece/epidemiology , Humans , Male , Middle Aged , Parathyroid Hormone/blood , Regression Analysis , Seasons , Vitamin D/analogs & derivatives , Vitamin D/blood , Vitamin D Deficiency/diagnosis
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