Multiple Comorbidities in a Fidgety Child: Sotos Syndrome Type I with ADHD, Hypothyroidism , Anemia, Vitamin D Deficiency, Abnormal EEG and Borderline Intelligence Quotient

2018 ◽  
Author(s):  
Darpan Kaur Mohinder Singh
Keyword(s):  
Vitamin D ◽  
Vitamin D Deficiency ◽  
Intelligence Quotient ◽  
Type I ◽  
Sotos Syndrome ◽  
Syndrome Type ◽  
Borderline Intelligence

Studies of the Porcine Intestinal Calcitriol Receptor in Pseudo-Vitamin D Deficiency Rickets Type I

1990 ◽  
Vol 79 (4) ◽  
pp. 409-414 ◽  
Author(s):  
B. Schröder ◽  
R. Kaune ◽  
J. Harmeyer
Keyword(s):  
Vitamin D ◽  
Vitamin D Deficiency ◽  
Rate Constant ◽  
Clinical Symptoms ◽  
Binding Capacity ◽  
Relative Molecular Mass ◽  
Type I ◽  
Binding Properties ◽  
Deficiency Rickets ◽  
And Control

1. Calcitriol (1,25-dihydroxyvitamin D3) concentrations in plasma of humans and pigs with pseudo-vitamin D deficiency rickets type I (PVDRI) have been reported to be significantly lower than in normal subjects and animals. Sometimes, however, calcitriol concentrations are relatively high in these subjects and animals (50–80 pmol/l) and nevertheless clinical symptoms of rickets develop. We have studied whether or not the development of rachitic lesions in piglets with PVDRI is due to altered binding properties of the intestinal calcitriol receptor in addition to the defective renal production of calcitriol. PVDRI piglets with clinical and biochemical symptoms of rickets (hypocalcaemia, increased activity of alkaline phosphatase) and with calcitriol concentrations in plasma of 83.7 ± 4.2 pmol/l (n = 7) were used. They were compared with unaffected piglets with normal calcitriol concentrations (178.0 ± 17.7 pmol/l, n = 9). 2. The equilibrium dissociation constant (Kd) of the receptor in the PVDRI piglets (0.31 ± 0.05 nmol/l) and in control piglets (0.33 ± 0.05 nmol/l) and the maximum binding capacity (Bmax.) (674 ± 103 and 719 ± 122 fmol/mg of protein, respectively) were not different (n = 9). 3. The association rate constant (kass) at 4°C [0.15 × 107 and 0.24 × 107 (mol/l)−1 min−1] and the dissociation rate constant (kdiss) (0.40 × 10−3 and 0.48 × 10−3 min−1; half-life of dissociation = 24.1 and 28.9 h, respectively) were also not different between diseased and control piglets. 4. No differences between PVDRI and control piglets were also found for the relative molecular mass (47 500 and 47700, respectively) and the Stokes' radius (3.04 and 3.05 nm, respectively) of the calcitriol receptor. 5. It is concluded that the intestinal calcitriol receptor of this animal model functions normally and that changes in binding properties and concentration of the intestinal calcitriol receptor do not contribute to the development of rachitic lesions in PVDRI piglets.

Bone loss and vitamin D deficiency post gastrectomy for gastro-esophageal malignancy.

2016 ◽  
Vol 34 (4_suppl) ◽  
pp. 165-165 ◽  
Author(s):  
Kiran Virik ◽  
Robert Wilson
Keyword(s):  
Risk Factors ◽  
Vitamin D ◽  
Vitamin D Deficiency ◽  
Bone Disease ◽  
Bone Health ◽  
Nutritional Supplementation ◽  
Type I ◽  
Mineral Density ◽  
Post Surgery

165 Background: Metabolic bone disease is a known but incompletely understood consequence of gastrectomy. Post gastrectomy osteoporosis (OP) is multifactorial. Evidence suggests that patients who undergo this surgery require long term bone health assessment and nutritional support. Methods: 30 post gastrectomy patients (2000-2008) from a single centre in Australia were evaluated re bone health post surgery and post nutritional supplementation. Exploratory analysis included: age, gender, pathology, type of surgery, 25 OH-vitamin D, calcium, parathyroid hormone (PTH), bone mineral density (BMD), vertebral XRs, urinary calcium and N telopeptides of type I collagen. Other risk factors evaluated were: smoking, corticosteroid use, alcohol intake, hyperthyroidism, menopausal status, hyperparathyroidism (hPTH), pre-existing bone disease. Results: The median age of the cohort was 67.5 (range 53-83) of whom 22 (73%) were male. Histology showed 16 (53%) gastric adenocarcinoma, 6 (20%) esophageal adenocarcinoma, 2 (7%) GISTs, 5 (17%) gastric/duodenal lymphoma and 1 other category. Similar numbers of patients underwent total (12) and partial/distal gastrectomy (12), with 6 having a subtotal gastrectomy. 22 (73%) had a Roux-en-Y or BR II reconstruction and 8 had a BRI/other. Median time from surgery to first BMD was 54.5 months (range 12-360) with median correlative calcium level 2.24 (range 1.97-2.49), median vitamin D level 43 (range 11-82) and median PTH 6.4 (range 1.8-13.8). Osteoporosis was diagnosed in 14 (47%) of patients, osteopenia in 14 and 2 (7%) patients had a normal BMD. Low vitamin D was seen in 23 (77%) patients, low calcium levels in 5 (17%) and secondary hPTH in 12 (41%). Post nutritional supplementation preliminary results showed 2/23 (9%) had a low vitamin D level, 3/11 (27%) had secondary hPTH, 5/19 (26%) had osteoporosis, 12/19 (63%) had osteopenia and 2/19 had a normal BMD. Analysis of other risk factors is to follow. Conclusions: Poor bone health and vitamin D deficiency is a clinically significant problem post gastrectomy. Patients should undergo long term nutritional and bone health surveillance in addition to their oncological follow up post resection.

scholarly journals Impact of vitamin D deficiency on health with regard to kidney disease; an updated mini-review

2018 ◽  
Vol 7 (2) ◽  
pp. 55-60
Author(s):  
Nozar Dorestan ◽  
Sara Bahadoram ◽  
Mohammad Bahadoram ◽  
Mohammadreza Khosravi ◽  
Mohammad Davoodi ◽  
...  
Keyword(s):  
Vitamin D ◽  
Kidney Disease ◽  
Vitamin D Deficiency ◽  
Heart Diseases ◽  
Daily Intake ◽  
Type I ◽  
Bowel Diseases ◽  
Progression Of Kidney Disease ◽  
Vitamin D Supplements ◽  
The Relationship

Vitamin D or cholecalciferol, as a steroidal hormone, regulates the calcium homeostasis, and bone formation with reabsorption through kidneys, parathyroid glands and bowel. There are at least 800 human genes connected with vitamin D. Previous research has confirmed the relationship between vitamin D and colorectal cancers, infections, heart diseases, multiple sclerosis (MS), bone disorders, inflammatory and autoimmune diseases, inflammatory bowel diseases, diabetes mellitus type-I and II and also progression of kidney disease. However, the relationship of vitamin D deficiency and developing of breast cancer, rheumatoid arthritis and osteoporosis is unknown. In fact, the effect of vitamin D deficiency on pathogenesis of different diseases is controversial. To cope with vitamin D deficiency, there are different recommendations such as daily intake of vitamin D supplements and more exposure to sunlight.

scholarly journals Laboratory Parameters of Bone Metabolism in Premature Infants and Children Born Using In Vitro Fertilization

2021 ◽  
Vol 20 (6) ◽  
pp. 103-110
Author(s):  
Natalya A. Natalya A. Druzhinina ◽  
Dinara R. Merzlyakova ◽  
Gulnaz A. Vakhitova ◽  
Zilia А. Shangareeva ◽  
Aliya R. Khabibullina ◽  
...  
Keyword(s):  
Vitamin D ◽  
Parathyroid Hormone ◽  
Bone Metabolism ◽  
Vitamin D Deficiency ◽  
Premature Infants ◽  
Type I Collagen ◽  
Plasma Vitamin ◽  
Type I ◽  
Premature Babies ◽  
Low Weight

Aim. To study the indicators of bone metabolism in premature babies born naturally and children born with IVF. Material and methods. The premature babies’ study was conducted, they were divided into 4 groups: depending on the method of birth and weight: 1st-children born with IVF, with very low weight; the second group – similar to the first, but children with extremely low weight; the third – children with very low weight, born naturally, with ; the fourth – similar to the 3rd, but with extremely low weight. The level of calcium, parathyroid hormone, calcitonin and C-terminal telopeptides of type I collagen was determined. Results and discussion. Diagnosis of vitamin D deficiency is possible only by measuring certain biochemical parameters, primarily the levels of its metabolites in the blood. Clinical symptoms of vitamin D deficiency in the form of rickets, osteomalacia, osteoporosis and extra-skeletal manifestations as a result of this vitamin deficiency occur over a long period of time. The most informative indicator of the body’s vitamin D supply is the content of calcidiol [25 (OH)D] in both serum and blood plasma. Vitamin D deficiency was detected in more than half (67.7±4.8%) of premature newborns in the first year of life. It seemed that in premature babies born in different ways, vitamin D deficiency was noted in 8 %, insufficiency – in 67.7 %, and the normal content in 27.5 %. In children at an early age, there is a violation of bone metabolism (an increase in the level of calcium, parathyroid hormone, calcitonin, on the one hand, and a decrease in the C-terminal telopeptides of type I collagen, on the other). These changes were associated with the weight of children, while aggressive disorders were noted in children with extremely low weight. In premature infants (with a body weight of less than 1500 g), monitoring of the level of vitamin D in the blood and C-terminal telopeptides of type 1 collagen should be recommended. Conclusion. Bone modeling has a great advantage due to the analysis of the blood serum biomarkers levels in premature infants, it enables to establish the features of osteogenesis.

Vitamin D3 metabolism in a pig strain with pseudo vitamin D-deficiency rickets, type I

1987 ◽  
Vol 115 (3) ◽  
pp. 345-352 ◽  
Author(s):  
Reinhard Kaune ◽  
Johein Harmeyer
Keyword(s):  
Vitamin D ◽  
Vitamin D Deficiency ◽  
Type I ◽  
Vitamin D Metabolism ◽  
Hydroxyvitamin D ◽  
Dihydroxyvitamin D ◽  
Before And After ◽  
25 Hydroxyvitamin D ◽  
Deficiency Rickets ◽  
Clinical Healing

Abstract. Vitamin D metabolism was studied in the 'Hannover Pig', a strain which suffers from pseudo vitamin D-deficiency rickets, type I. Animals of this strain are known to be devoid of renal 25-hydroxyvitamin D3-1α-hydroxylase and -24-hydroxylase activities. Pigs with florid rickets and hypocalcaemia were treated with single im injections of 0.25 to 1.25 mg of vitamin D3, doses that have been shown in previous studies to be effective in producing transient healing of rachitic symptoms. The levels of vitamin D3 and its most relevant physiological metabolites in plasma were estimated at intervals before and after this vitamin D3 treatment. Vitamin D3 rose from 14.8 ± 8.1 to 364 ± 190 nmol/l (mean ± sd) 2 to 3 days post injectionem, 25-hydroxyvitamin D3 from 131.0 ± 46.2 to 1068 ± 160 nmol/l within 7 days post injectionem. The 1α,25-dihydroxyvitamin D3 concentration in plasma was elevated from 73.9 ± 25.0 to 281 ± 168 pmol/l 2 to 3 days post injectionem and declined continually from that time. 24R,25-dihydroxyvitamin D3 and 25S,26-dihydroxyvitamin D3 levels after treatment showed different responses in different animals being either elevated or unchanged. Clinical healing of the pigs with these doses of vitamin D3 was attributed to the transient rise of 1α,25-dihydroxyvitamin D3 in plasma. It was assumed that 1α,25-dihydroxyvitamin D3 synthesis takes place under these circumstances in extrarenal tissues.

Association of VDR-gene variants with factors related to the metabolic syndrome, type 2 diabetes and vitamin D deficiency

Gene ◽  
2014 ◽  
Vol 542 (2) ◽  
pp. 129-133 ◽  
Author(s):  
Nasser M. Al-Daghri ◽  
Omar S. Al-Attas ◽  
Khalid M. Alkharfy ◽  
Nasiruddin Khan ◽  
Abdul Khader Mohammed ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Metabolic Syndrome ◽  
Vitamin D ◽  
Vitamin D Deficiency ◽  
Gene Variants ◽  
Syndrome Type ◽  
Vdr Gene ◽  
The Metabolic Syndrome
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