Subject(s)
Anaphylaxis/chemically induced , Gelatin Sponge, Absorbable/adverse effects , Gelatin/adverse effects , Intraoperative Complications/chemically induced , Spine/surgery , Albuterol/therapeutic use , Anaphylaxis/drug therapy , Atropine/therapeutic use , Bronchodilator Agents/therapeutic use , Child , Epinephrine/therapeutic use , Humans , Intraoperative Complications/drug therapy , Male , Terbutaline/therapeutic useABSTRACT
In the past year, two centers reported autosomal recessive mutations in tetratricopeptide repeat domain 7A (TTC7A) gene in patients with multiple intestinal atresia and immunodeficiency. Here, we present clinical progress of an infant with multiple intestinal atresia and combined immunodeficiency who carries novel compound heterozygote mutations in TTC7A gene.
Subject(s)
Intestinal Atresia/diagnosis , Intestinal Mucosa/physiology , Proteins/genetics , Sepsis/diagnosis , Severe Combined Immunodeficiency/diagnosis , Adult , Base Sequence , DNA Mutational Analysis , Female , Genetic Predisposition to Disease , Genotype , Humans , Infant, Newborn , Intestinal Atresia/complications , Intestinal Atresia/genetics , Male , Molecular Sequence Data , Mutation, Missense/genetics , Pedigree , Polymorphism, Genetic , Sepsis/complications , Sepsis/genetics , Severe Combined Immunodeficiency/complications , Severe Combined Immunodeficiency/geneticsABSTRACT
PURPOSE: The purpose of this study is to investigate the association of the serum 25-hydroxyvitamin D (25-OHD) level with markers of insulin resistance (IR) in postmenopausal Indian women. MATERIALS AND METHODS: This was a cross-sectional study, conducted at a Tertiary Care Hospital in New Delhi, India. Seventy one postmenopausal women (mean age 56.3 ± 7.6 years) were enrolled. Exclusion criteria were known or newly detected diabetics, subjects with chronic renal failure, chronic liver disease or any other chronic inflammatory condition, chronic smokers and chronic alcoholics. Serum calcium (and albumin for calculating corrected calcium), phosphorus, alkaline phosphatase and 25-OHD were measured as parameters of calcium homeostasis. Fasting blood glucose (FBG), systolic and diastolic blood pressures, body mass index (BMI), fasting serum insulin, calculated glucose insulin ratio (GIR), and homeostatic model assessment of insulin resistance (HOMA-IR) were studied as parameters of IR. Data was then analyzed for statistical significance. RESULTS: The mean serum 25-OHD level was 12.73 ± 7.63 ng/ml. The mean BMI was 27.78 ± 5.37 kg/m(2). The mean calculated GIR was 13.14 ± 9.39 and HOMA-IR was 2.31 ± 1.70. Serum 25-OHD was inversely correlated with BMI (correlation coefficient -0.234, P value 0.050) and with HOMA-IR (correlation coefficient -0.237, P value 0.047). However, when 25-OHD was adjusted for BMI the correlation between 25-OHD and HOMA-IR lost its significance. No correlation was found between serum 25-OHD and any other parameters of IR studied. CONCLUSIONS: There is a significant negative linear correlation between 25-OHD and BMI. The significant negative linear correlation between 25-OHD and HOMA-IR was confounded by BMI. There is no correlation between 25-OHD and parameters of IR.
ABSTRACT
AIM: To compare the effect of two different doses (500 and 1000 IU/day) of oral vitamin D3 (cholecalciferol) on serum 25-hydroxy vitamin D [25(OH)D] levels in apparently healthy postmenopausal Indian women. MATERIALS AND METHODS: Serum 25(OH)D, calcium with albumin, phosphorus, and alkaline phosphatase were measured in 92 apparently healthy postmenopausal women. The subjects were randomly assigned to one of the three groups and received supplementation for 3 months each. Each group received 1000 mg calcium carbonate daily while groups B and C received 500 and 1000 IU of cholecalciferol in addition, respectively. The tests were repeated after 3 months. RESULTS: At baseline, 83.7% subjects had vitamin D deficiency (≤20 ng/mL). The difference in the percentage change in mean serum 25(OH)D levels from baseline in group A (-30.5 ± 5.3%), group B (+8.9 ± 19.7%), and in group C (+97.8 ± 53.3%) was statistically significant (P < 0.001) between the three groups. Serum 25(OH)D level >20 ng/mL was achieved in 4.7% (1/21), 16% (4/25), and 66.67% (12/18) subjects in groups A, B, and C, respectively. No significant change was found in serum calcium, phosphorus, and alkaline phosphatase levels at 3 months in either of the groups from baseline. CONCLUSIONS: Standard dose of cholecalciferol available in "calcium tablets" (250 IU per 500 mg calcium carbonate) is not adequate for achieving optimum serum 25(OH)D levels in Indian postmenopausal women. Higher dose of vitamin D supplementation with 1000 IU/day (500 IU per 500 mg calcium carbonate) daily is superior to the standard dose therapy. For achievement of optimum serum 25(OH)D levels (>30 ng/mL) in Indian postmenopausal women, still higher doses of vitamin D are likely to be required.
ABSTRACT
Hereditary angioedema (HAE) is a rare genetic condition that manifests as painful and potentially life-threatening episodic attacks of cutaneous and submucosal swelling. It results from functional deficiency of C1 inhibitor (C1 INH), which is a regulator of the complement, fibrinolytic, kinin (contact), and coagulation systems. In patients with HAE, the low plasma concentration of functional C1 INH leads to overactivation of the kinin cascade and local release of bradykinin. Bradykinin is responsible for the pain, vascular permeability changes, and edema associated with HAE. Until recently, therapeutic options for HAE have been very limited. Many new therapies have emerged, however, such as C1 INH replacement drugs and medications aimed at components of the contact system (eg, plasma kallikrein inhibitor and bradykinin B2 receptor antagonist). The authors review current and novel treatments for patients with HAE.
