scholarly journals Low Serum Alpha-1 Antitrypsin (AAT) in Family Members of Individuals with Autism Correlates with PiMZ Genotype

2009 ◽  
Vol 4 ◽  
pp. BMI.S1115 ◽  
Author(s):  
Anthony J. Russo ◽  
Lauren Neville ◽  
Christine Wroge
Keyword(s):  
Gastrointestinal Disease ◽  
Family Members ◽  
Serum Levels ◽  
Normal Serum ◽  
Autistic Children ◽  
Respiratory Problems ◽  
Low Levels ◽  
Alpha 1 Antitrypsin ◽  
And Gender ◽  
Low Serum

Aim Deficiency of Alpha-1-antitrypsin (AAT) can be a genetic condition that increases the risk of developing liver, lung and possibly gastrointestinal disease. Since many autistic children also have gastrointestinal disorders, this study was designed to measure serum concentration of AAT and establish AAT genotypes in autistic children, age and gender matched non-autistic siblings, parents and controls. Subjects and Methods We used an indirect ELISA with monoclonal IgG to AAT to measure AAT serum concentrations in 71 members from 16 families of individuals with autism and 18 controls (no family history of autism). We used a duplex polymerase chain reaction to detect M, S and Z alleles for alpha-1 antitrypsin expression in 52 members of 12 of the above families. Results A significantly high number of autistic family members had lower than normal serum levels of AAT when compared to controls. Autistic children with regressive onset had significantly lower levels of AAT compared to controls, and a significant number of autistic children with low serum AAT also had hyperbilirubinemia, gastrointestinal disease and respiratory problems. We also found that a significantly high number of these individuals had the PiMZ genotype and correspondingly low levels of serum alpha-1 antitrypsin. Discussion Knowing that low levels of alpha-1 antitrypsin may be inherited, and that low levels of AAT may be associated with GI disease in autistic children, genotyping autistic children may help identify individuals susceptible to developing digestive problems.

scholarly journals Low serum Alpha-1 Antitrypsin Associated with Anti-PR-3 AncA in Autistic Children with GI Disease

2009 ◽  
Vol 2 ◽  
pp. GEI.S2918 ◽  
Author(s):  
A.J. Russo ◽  
A. Krigsman ◽  
B. Jepson ◽  
Andrew Wakefield
Keyword(s):  
Digestive Disease ◽  
Serum Levels ◽  
High Serum ◽  
Autistic Children ◽  
Severity Of Disease ◽  
High Severity ◽  
Nodular Hyperplasia ◽  
Alpha 1 Antitrypsin ◽  
Lymphoid Nodular Hyperplasia ◽  
Low Serum

Aim To assess the possible relationship between serum alpha-1 antitrypsin (AAT) levels and anti-neutrophil cytoplasmic antibodies (ANCA) in autistic children with severe GI disease and to test the hypothesis that there is an association between low serum AAT levels, the presence of ANCA and inflammatory GI disease seen in some autistic children. Subjects and Methods Serum from 40 autistic children with chronic digestive disease (many with ileo-colonic lymphoid nodular hyperplasia (LNH) and inflammation of the colorectum, small bowel and/or stomach), and 41 controls (21 age matched autistic children with no GI disease and 20 age matched children without autism or GI disease) were tested using ELISAs designed to quantitate ANCA (anti-PR3), AAT and PR3 levels. Results We found that a significant number of autistic children with chronic digestive disease had anti-PR3 ANCA, high serum PR3 and high severity of disease when compared to controls. This same group of autistic children had low serum levels of AAT compared to controls, which also correlated with the presence of anti-PR3 ANCA, high serum PR3, as well as the severity of intestinal disease, particularly LNH and severe erythema. Discussion These results suggest a relationship between low AAT levels, ANCA and severity of GI disease seen in a subpopulation of ASD individuals. We suggest that low AAT levels may result in high levels of PR3, which may, in turn be associated with the presence of ANCA.

scholarly journals Decreased Serum Hepatocyte Growth Factor (HGF) in Autistic Children with severe Gastrointestinal Disease

2009 ◽  
Vol 4 ◽  
pp. BMI.S3656 ◽  
Author(s):  
A.J. Russo ◽  
A. Krigsman ◽  
B. Jepson ◽  
Andrew Wakefield
Keyword(s):  
Growth Factor ◽  
Hepatocyte Growth Factor ◽  
Gastrointestinal Disease ◽  
Serum Levels ◽  
Autistic Children ◽  
Functional Connection ◽  
Disease Symptoms ◽  
Lymphoid Nodular Hyperplasia ◽  
Lymphoid Nodules ◽  
Hepatocyte Growth

Aim To assess serum Hepatocyte Growth Factor (HGF) levels in autistic children with severe gastrointestinal (GI) disease and to test the hypothesis that there is a relationship between GI pathology and HGF concentration. Subjects and Methods Serum from 29 autistic children with chronic digestive disease (symptoms for a minimum of 6–12 months), most with ileo-colonic lymphoid nodular hyperplasia (LNH—markedly enlarged lymphoid nodules) and inflammation of the colorectum, small bowel and/or stomach), and 31 controls (11 age matched autistic children with no GI disease, 11 age matched non autistic children without GI disease and 9 age matched non autistic children with GI disease) were tested for HGF using ELISAs. HGF concentration of autistic children with GI disease was compared to GI disease severity. Results Autistic children with GI disease had significantly lower serum levels of HGF compared to controls (autistic without GI disease; p = 0.0005, non autistic with no GI disease; p = 0.0001, and non autistic with GI disease; p = 0.001). Collectively, all autistic children had significantly lower HGF levels when compared to non autistic children (p < 0.0001). We did not find any relationship between severity of GI disease and HGF concentration in autistic children with GI disease. Discussion These results suggest an association between HGF serum levels and the presence of GI disease in autistic children and explain a potential functional connection between the Met gene and autism. The concentration of serum HGF may be a useful biomarker for autistic children, especially those with severe GI disease.

scholarly journals The association of low serum salivary and pancreatic amylases with the increased use of lipids as an energy source in non-obese healthy women

2020 ◽  
Author(s):  
Kei Nakajima ◽  
Ryoko Higuchi ◽  
Taizo Iwane ◽  
Ayaka Iida
Keyword(s):  
Energy Production ◽  
Serum Levels ◽  
Glycated Haemoglobin ◽  
High Serum ◽  
Hydroxybutyric Acid ◽  
Acetoacetic Acid ◽  
Close Relationship ◽  
Low Levels ◽  
Low Serum ◽  
Hba1c Levels

Abstract OBJECTIVE: It is unknown whether low serum levels of salivary and pancreatic amylases are associated with the high combustion of carbohydrates or lipids for energy. Elevated blood ketones and a low respiratory quotient (RQ) can reflect the preferential combustion of lipids relative to carbohydrates. Therefore, using the data from our previous study, we investigated if low levels of serum amylases were associated with a high serum ketone level and low RQ in 60 healthy non-obese young women aged 20–39 years old.RESULTS: Serum ketones [3-hydroxybutyric acid (3-HBA) and acetoacetic acid (AA)] were inversely correlated with RQs, but not body mass index (BMI) or glycated haemoglobin (HbA1c) levels. Logistic regression analysis showed that high levels of serum ketones (3-HBA ≥ 24 μmol/L and AA ≥ 17 μmol/L) and a low RQ (< 0.766) were significantly associated with low serum salivary (< 60 U/L) and pancreatic (< 29 U/L) amylase levels, respectively. These associations were not altered by further adjustments for age, BMI, HbA1c, and estimated glomerular filtration rate. These results confirm the high combustion of lipids for energy in individuals with low serum amylase levels, suggesting a close relationship between circulating amylases and internal energy production.

scholarly journals The association of low serum salivary and pancreatic amylases with the increased use of lipids as an energy source in non-obese healthy women

2020 ◽  
Author(s):  
Kei Nakajima ◽  
Ryoko Higuchi ◽  
Taizo Iwane ◽  
Ayaka Iida
Keyword(s):  
Energy Production ◽  
Serum Levels ◽  
Glycated Haemoglobin ◽  
High Serum ◽  
Hydroxybutyric Acid ◽  
Acetoacetic Acid ◽  
Close Relationship ◽  
Low Levels ◽  
Low Serum ◽  
Hba1c Levels

Abstract OBJECTIVE It is unknown whether serum levels of salivary and pancreatic amylases are associated with the high combustion of carbohydrates or lipids for energy. Elevated blood ketones and a low respiratory quotient (RQ) can reflect the preferential combustion of lipids relative to carbohydrates. Therefore, we investigated if low levels of serum salivary and pancreatic amylases were associated with a high serum ketone level and low RQ in healthy people. RESULTS Using the data from our previous study, we reanalysed clinical parameters, including serum salivary and pancreatic amylases, serum 3-hydroxybutyric acid (3-HBA) and acetoacetic acid (AA), and RQ in 60 healthy non-obese young women aged 20–39 years old. Serum ketones were inversely correlated with RQs, but not body mass index (BMI) or glycated haemoglobin (HbA1c) levels. Logistic regression analysis showed that high levels of serum ketones and a low RQ were significantly associated with low serum salivary (<60 U/L) and pancreatic (<29 U/L) amylase levels. These associations were not altered by further adjustments for age, BMI, HbA1c, and estimated glomerular filtration rate. These results confirm the high combustion of lipids for energy in individuals with low serum amylase levels, suggesting a close relationship between circulating amylases and internal energy production.

scholarly journals TREM-2 Receptor Expression Increases with 25(OH)D Vitamin Serum Levels in Patients with Pulmonary Sarcoidosis

2015 ◽  
Vol 2015 ◽  
pp. 1-7 ◽  
Author(s):  
Maria Bucova ◽  
Magda Suchankova ◽  
Elena Tibenska ◽  
Eva Tedlova ◽  
Juraj Demian ◽  
...  
Keyword(s):  
Vitamin D ◽  
Serum Level ◽  
Serum Levels ◽  
Pulmonary Sarcoidosis ◽  
Normal Serum ◽  
Receptor Expression ◽  
Normal Range ◽  
Inactive Form ◽  
Vitamin D Levels ◽  
Low Levels

TREM-1 and TREM-2 molecules are members of the TREM transmembrane glycoproteins. In our previous study we identified increased expressions of TREM-1 and TREM-2 receptors in pulmonary sarcoidosis (PS). Only a few studies concerning the association between vitamin D and TREM receptor expression can be found. The aim of our current study was to determine the association between the levels of an inactive form of 25(OH)D vitamin and TREM-1 and TREM-2 receptor expressions. We have detected low levels of 25(OH)D vitamin in 79% of PS patients. Only 21% of patients had normal serum level of 25(OH)D vitamin with values clustered within the low-normal range. The most striking findings were the increased TREM-2 expressions on myeloid cells surfaces in BALF of PS patients with normal 25(OH)D vitamin serum levels compared with those with its decreased levels. The total number of TREM-2 positive cells was 5.7 times higher and the percentage of TREM-2 positive cells was also significantly increased in BALF of PS patients with normal compared to PS patients with low 25(OH)D vitamin serum levels. A significant correlation between total TREM-2 expression and vitamin D levels has been detected too. However, we have not detected similar differences in TREM-1expression and 25(OH)D vitamin serum levels.

Alpha-1-Antitrypsin Deficiency: An Ultrastructural Case Study

1976 ◽  
Vol 34 ◽  
pp. 230-231
Author(s):  
P. K. Simons
Keyword(s):  
Protease Inhibitor ◽  
Tissue Injury ◽  
Serum Levels ◽  
Normal Serum ◽  
Starch Gel Electrophoresis ◽  
Normal Tissues ◽  
Dominant Phenotype ◽  
Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin

Alpha-1-antitrypsin is a broad spectrum protease inhibitor produced by the liver. It accounts for 90% of the serum alpha-1 globulins. Normal serum levels of alpha-1-antitrypsin are 200-400 mg/100ml. The protease inhibitor serum level shows a distinct rise in response to tissue injury. Activity with chymotrypsin, elastase, hyaluronidase, skin collagenase, plasmin, and thrombin has been reported. It may have a role in providing protection to normal tissues by neutralizing enzymes released from dying cells as a result of injury or inflammation.Deficiency of alpha-1-antitrypsin is inherited as an autosomal recessive. Phenotype is determined by electrophoretic mobility in Starch-Gel electrophoresis. Normal individuals show M bands (for medium speed) and the homozygous dominant phenotype is designated PiMM. Two other electrophoretic migratory bands are observable in different phenotypes of this protease inhibitor: the S band (slower mobility than the M band) and the Z band (slowest).

scholarly journals Vitamin D Status in Children in Greece and Its Relationship with Sunscreen Application

Children ◽  
2021 ◽  
Vol 8 (2) ◽  
pp. 111
Author(s):  
Gavriela Maria Feketea ◽  
Ioana Corina Bocsan ◽  
Georgios Tsiros ◽  
Panagiota Voila ◽  
Luminita Aurelia Stanciu ◽  
...  
Keyword(s):  
Vitamin D ◽  
Seasonal Variation ◽  
Children And Adolescents ◽  
Real Life ◽  
Sun Exposure ◽  
Serum Levels ◽  
Normal Serum ◽  
Healthy Children ◽  
25 Hydroxy Vitamin D ◽  
Low Serum

The aim of this study was to characterize the prevalence and seasonal variation of vitamin D (vit D) deficiency/insufficiency in healthy children and adolescents in Greece, and to explore its relationship with the use of sunscreens. The serum level of 25-hydroxy-vitamin D (25(OH)D) was measured in 376 children and adolescents (184 males and 192 females) with a mean age of 7.6 ± 4.9 years, at different time points over a period of 13 months. The prevalence of low serum 25(OH)D level, including deficiency and insufficiency, was 66.2%. The lowest mean 25(OH)D was observed in the month of January (17.9 ± 6.8 ng/mL) and the highest in September, July, August, and October (34.6 ± 8.7, 33.0 ± 9.4, 30.1 ± 8.2, and 30.1 ± 10.6 ng/mL, respectively). Higher levels of serum 25(OH)D were detected in the children to whom sunscreens had been applied on the beach (p = 0.001) or off the beach (p < 0.001). The subjects with deficiency and insufficiency were significantly older than those with normal levels of 25(OH)D, but no significant differences were demonstrated according to gender. This study emphasizes the high prevalence of low serum levels of 25(OH)D and their seasonal variation in children living in a region characterized by many hours of sunshine. Our data suggest that the real-life use of sunscreens during the summer months allows sufficient sunlight to be received to enable production of vit D at a level adequate to maintain normal serum levels. Vit D supplements should be given to children during the months of lower sun exposure.

Frequency of Combined Deficiencies of Vitamin D and Holotranscobalamin in Cancer Patients.

Blood ◽  
2004 ◽  
Vol 104 (11) ◽  
pp. 3674-3674
Author(s):  
Ashley S. Plant ◽  
Glenn Tisman
Keyword(s):  
Vitamin D ◽  
Vitamin B12 ◽  
Cancer Patients ◽  
Sun Exposure ◽  
Serum Levels ◽  
The Elderly ◽  
Vitamin D Insufficiency ◽  
Total Serum ◽  
Low Levels ◽  
Low Serum

Abstract Low serum levels of vitamin D are associated with a higher frequency of at least eleven different malignancies including breast, colon, and prostate cancer (Holick, M.F. Vitamin D: Millenium Perspective. Journal of Cellular Biochemistry. 2003. 88:296–307). Low levels of vitamin B12 were found to contribute to a 2.5–4.0 times greater likelihood of breast cancer in postmenopausal women (Wu, K. et al. Cancer Epidemiol. 1999. 8:209–17) and hematological and mucosal tissue is more sensitive to chemotherapy in the presence of insufficient levels of B12. Only vitamin B12 that is complexed to transcobalamin as holotranscobalamin (HTCII) is metabolically active. It has been suggested that decreased HTCII serum levels are involved in the failure to methylate DNA resulting in the activation of oncogenes that would normally be dormant (Herbert, V. Methyl Metabolism: Epigenetics, Genomics, Proteomics. 2002 FASEB Summer Research Conference. Snowmass Village, Colarado.).Our study investigated vitamin D, total B12 and HTCII levels in 70 cancer patients. Vitamin D was measured as serum 25 OH-D3 (Nichols Advantage assay) and serum B12 was measured as both total B12 and as the metabolically active HTCII (Immulite B12 assay followed by glass adsorption: Vu, T. et al., Am J. Heme42: 202–211 1993). Vitamin D insufficiency has been defined based on differing physiologic sequelae of insufficiency and varies between values less than 50–75 nMol/L. When vitamin D insufficiency is defined as serum level <75nmol/L, 43 of 60 (72%) of cancer patients were found to be insufficient. At a lower definition of insufficiency, <50nmol/L, 24 of 60 patients (40%) were insufficient. Of 52 patients, only 3 (6%) were found to have insufficient serum levels of total B12 (normal >300pg/mL) while 17 of 52 (34%) were found to be HTCII insufficient (normal >69 pg/mL). Of these 17 patients, 14 (84.4%) had normal total B12 levels. Low levels of vitamin D strongly correlated with low serum HTCII. All 12 HTCII deficient patients were vitamin D insufficient at the <75nmol/L standard. Six of 12 HTCII deficient patients (50%) were vitamin D deficient at the <50nmol/L cut off. Chi-squared test for independence revealed a strong relationship between low levels of vitamin D and HTCII. Deficiency of vitamin D (70%) and holotranscobalamin (34%) is prevalent among newly diagnosed patients with cancer. The standard measurement of total serum B12 alone is inadequate for identifying patients with insufficient levels of metabolically active B12. Low vitamin D and holotranscobalamin levels may play a role in cancer development, progression and host response to tumor and therapy. Possible explanations for combined HTCII and D3 deficiency include age, the presence of atrophic gastritis in 30–50% of the elderly, and lack of sun exposure and deficient production of D3 in the elderly. Since both vitamins are conserved by cubulin/megalin mediated renal tubular reabsorption a defect of this mechanism could contribute to deficiency of both vitamins. Study supported in part by ThinkTwice Technologies. This work is dedicated to the memory of Dr. Victor Herbert whose teachings continue to inspire our research efforts.

scholarly journals Low Serum Levels of Prealbumin, Retinol Binding Protein, and Retinol Are Frequent in Adult Type 1 Diabetic Patients

2016 ◽  
Vol 2016 ◽  
pp. 1-6 ◽  
Author(s):  
Luis Forga ◽  
Federico Bolado ◽  
María José Goñi ◽  
Ibai Tamayo ◽  
Berta Ibáñez ◽  
...  
Keyword(s):  
Serum Creatinine ◽  
Binding Protein ◽  
Serum Levels ◽  
Adult Patients ◽  
Retinol Binding Protein ◽  
Diabetic Patients ◽  
Duration Of Diabetes ◽  
Low Levels ◽  
Low Serum

Aim.To determine the serum prealbumin (PA), retinol binding protein (RBP), and retinol levels in adult patients with type 1 diabetes (T1D) and to analyze some factors related to those levels.Methods.A total of 93 patients (47 women) were studied. Age, gender, BMI, duration of diabetes, chronic complications, HbA1c, lipid profile, creatinine, albumin, PA, RBP, and retinol were recorded. High and low parameter groups were compared by Mann–WhitneyUandχ2tests. Correlation between parameters was analyzed by Spearman’s test. Odds of low levels were analyzed by univariate logistic regression and included in the multivariate analysis when significant.Results.49.5%, 48.4%, and 30.1% of patients displayed serum PA, RBP, and retinol levels below normal values, respectively. A high correlation (Rho > 0.8) between PA, RBP, and retinol serum levels was found. Patients presenting low levels of any of them were predominantly women, normal-weighted, and with lower levels of triglycerides and serum creatinine. No differences in age, macrovascular complications, duration of diabetes, or HbA1c values were observed when comparing low and normal parameter groups.Conclusion.Low serum levels of PA, RBP, and retinol are frequent in T1D adult patients. This alteration is influenced by female sex and serum creatinine and triglyceride levels.

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