Serum levels of alpha-1 antitrypsin predict phenotypic expression of the alpha-1 antitrypsin gene in the pediatric population

1998 ◽  
Vol 114 ◽  
pp. A1345
Author(s):  
SJ Steiner ◽  
SK Gupta ◽  
JM Croffie ◽  
SKF Chong ◽  
JF Fitzgerald
Keyword(s):  
Pediatric Population ◽  
Phenotypic Expression ◽  
Serum Levels ◽  
Alpha 1 Antitrypsin

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 Alpha 1 antitrypsin serum levels and phenotypes in patients with retinal vasculitis.

1985 ◽  
Vol 69 (7) ◽  
pp. 497-499 ◽  
Author(s):  
D Wakefield ◽  
J Easter ◽  
S N Breit ◽  
P Clark ◽  
R Penny
Keyword(s):  
Retinal Vasculitis ◽  
Serum Levels ◽  
Alpha 1 Antitrypsin

scholarly journals Serum Levels of Glutamate-Pyruvate Transaminase, Glutamate-Oxaloacetate Transaminase and Gamma-Glutamyl Transferase in 1494 Patients with Various Genotypes for the Alpha-1 Antitrypsin Gene

2020 ◽  
Vol 9 (12) ◽  
pp. 3923
Author(s):  
José María Hernández Pérez ◽  
Ignacio Blanco ◽  
Agustín Jesús Sánchez Medina ◽  
Laura Díaz Hernández ◽  
José Antonio Pérez Pérez
Keyword(s):  
Liver Damage ◽  
Serum Levels ◽  
Gamma Glutamyl Transferase ◽  
Glutamate Oxaloacetate Transaminase ◽  
Glutamate Pyruvate Transaminase ◽  
Gamma Glutamyl ◽  
Glutamate Pyruvate ◽  
Alpha 1 Antitrypsin ◽  
Glutamyl Transferase ◽  
Normal Genotype

Background: Patients with liver disease associated with alpha-1 antitrypsin deficiency (AATD) are homozygous for the Z mutation, leading to chronic liver damage. Objective: To assess the serum levels of glutamate-oxaloacetate transaminase (GOT), glutamate-pyruvate transaminase (GPT), and gamma-glutamyl transpeptidase (GGT) in patients with different genotypes for the alpha-1 antitrypsin (AAT) gene. Methods: Patients (n = 1494) underwent genotyping of the SERPINA1 gene, together with a determination of AAT and GOT and GPT and GGT transaminase levels. Patients with a deficient allele (n = 476) and with a normal genotype were compared. Results: A statistically significant association was found between deficient genotypes and GOT (p < 0.0003), GPT (p < 0.002), and GGT (p < 0.006). Comparing GOT levels in patients with PI*Z deficient variant versus those with normal genotype, an odds ratio (OR) of 2.72 (CI: 1.5–4.87) (p < 0.0005) was obtained. This finding was replicated with the PI*Z allele and the GPT values (OR = 2.31; CI: 1.45–3.67; p < 0.0003). In addition, a statistically significant association was found between liver enzymes and AAT values. Conclusion: The PI*Z allele seemed to be a risk factor for the development of liver damage. AAT deficient genotypes were associated with GOT, GPT, and GGT altered values. Low AAT levels were associated with high GPT and GGT levels.

ROC Analysis of Diagnostic Performance Utilizing Serum Antiproteases in Cancer Patients

1988 ◽  
Vol 3 (3) ◽  
pp. 203-205 ◽  
Author(s):  
J. Millán ◽  
A. Lorenzo ◽  
P. Gallurt ◽  
P. Rodriguez ◽  
J. Romero ◽  
...  
Keyword(s):  
Cancer Patients ◽  
Diagnostic Performance ◽  
Roc Analysis ◽  
Diagnostic Procedures ◽  
Serum Levels ◽  
Receiver Operating Characteristics ◽  
True Positive ◽  
Operating Characteristics ◽  
Normal Individuals ◽  
Alpha 1 Antitrypsin

Assessment of the accuracy of diagnostic procedures is made independent of diagnostic criteria by means of a receiver-operating-characteristics (ROC) curve. We performed ROC analysis for the major serum antiproteases: alpha-1-antitrypsin (A1AT) and alpha-2-macroglobulin (A2M), in 99 cancer patients compared with 71 normal individuals. A1AT and A2M were significantly higher in cancer patients (p < 0.0005). By comparing true positive and false positive rates for different serum levels, ROC analysis showed that serum A1AT quantification seems more useful in clinical practice than serum A2M.

Use of Erythropoietin (EPO) in Children with Malignancies.

Blood ◽  
2006 ◽  
Vol 108 (11) ◽  
pp. 5533-5533
Author(s):  
Gabor T. Kovacs ◽  
Judit Muller ◽  
Monika Csoka ◽  
Eszter Vonnak ◽  
Hajna Erlaky ◽  
...  
Keyword(s):  
Pediatric Population ◽  
Lymphoblastic Leukemia ◽  
Elevated Serum ◽  
Serum Levels ◽  
Control Group ◽  
Recombinant Erythropoietin ◽  
Malignant Diseases ◽  
Human Erythropoietin ◽  
Unsuccessful Treatment ◽  
The Mean

Abstract Recombinant erythropoietin is widely used for the treatment of anemia in malignant diseases in adults. There are only limited data of its use in pediatric population. In this study we analysed the effectiveness and tolerability of recombinant human erythropoietin (NeoRecormon) in children with malignant diseases. 80 children with malignant diseases were analysed. 40 patients (15 girls, 25 boys) received EPO in a mean dosage of 144.5±14.1 IU/kg three times a week. The mean age of the EPO-treated patients was 8.8 (2.5–16) years. 26 children had acute lymphoblastic leukemia and 14 patients had solid tumor. Match-paired, retrospective control patients (n=40) with similar diagnosis were used for the data analysis as control group (C). The mean duration of EPO treatment was 5.8 months (3–8 mo). In 6 patients the therapy was ceased due to elevated serum hemoglobin (Hb) (>130 g/L), in 6 patients the dose was increased up to 200 IU/kg three times a week, and 5 patients discontinued the therapy (2 died, 3 unsuccessful treatment). The mean amount of erythrocyte transfusion in the first 3 months of chemotherapy (CT) was 4.1±3.1 U/patient in the EPO group, and 8.0±4.2 in C, and during 6 months of CT 4.5±3.4 with EPO, and 11.6±7.1 in C (p<0.05). Soluble transferrine receptor (STFR) levels in serum increased in the EPO group after 2 weeks of therapy from 3.2±2.0 up to 4.8±2.9 (p<0.05). In general in 26/40 patients a significant elevation of the Hb levels and decrease of the need of erythrocyte transfusions could be detected. In 22 patients the STFR levels increased more than 50 % after 2 weeks of therapy. In this subgroup 18/22 children responded to EPO therapy. All patients tolerated the therapy well, no severe side effects were detected. In summary, EPO treatment is effective in about 2/3 of pediatric oncology patients. The therapy is well-tolerated. Increase in the STFR serum levels might be a useful marker for the effectiveness of EPO in children.

scholarly journals P2.01-079 The Serum Levels of Alpha-1 Antitrypsin Are Strongly Associated with Its Local Production by Tumor Cells in NSCLC Patients

2017 ◽  
Vol 12 (1) ◽  
pp. S835-S836
Author(s):  
Adam Szpechcinski ◽  
Renata Langfort ◽  
Emilia Debek ◽  
Dorota Giedronowicz ◽  
Mateusz Florczuk ◽  
...  
Keyword(s):  
Tumor Cells ◽  
Serum Levels ◽  
Local Production ◽  
Alpha 1 Antitrypsin ◽  
Nsclc Patients

scholarly journals Vitamin D Deficiency in Children Despite Correctly Applied Rickets Prophylaxis

2020 ◽  
Vol 70 (12) ◽  
pp. 4332-4335
Keyword(s):  
Vitamin D ◽  
Vitamin D Deficiency ◽  
Calcium Absorption ◽  
Pediatric Population ◽  
Clinical Signs ◽  
Serum Levels ◽  
First Year ◽  
Vitamin D Levels ◽  
The Mean ◽  
First Year Of Life

Vitamin D is essential for calcium absorption and for maintaining bone health in the pediatric population. We conducted a retrospective study to establish the profile of a child aged under 3 years old with vitamin D deficiency in the context of correct prophylaxis, on a cohort of 49 children from two general practitioner offices. From the study group 30.6% of children (15 cases) had low vitamin D levels. The mean serum 25(OH)D level was 41.5±16.6 ng/ml. Regarding nutrition in the first year of life, breastfeeding predominated (83.7% of patients), and only 8.16% of patients had clinical signs of rickets. So, low serum levels of vitamin D can also be found in children who have successfully received correct prophylaxis with vitamin D. Keywords: vitamin D, children, rickets

scholarly journals Ménétrier Disease; 2-Year-Old Boy Presenting With Prolonged Emesis, Generalized Edema and Chance Histopathological Finding of Cytomegalovirus Gastritis: A Case Report

2021 ◽  
Vol 4 (2) ◽  
pp. 01-04
Author(s):  
Shipra Garg ◽  
Narry Savage ◽  
Emmanuel Siaw ◽  
Ashish Patel
Keyword(s):  
Pediatric Population ◽  
High Protein Diet ◽  
Deficiency Anemia ◽  
Erosive Gastritis ◽  
Protein Loss ◽  
Clinical Recovery ◽  
Alpha 1 Antitrypsin ◽  
Hepatic Protein Synthesis ◽  
Protein Losing Gastropathy

Ménétrier disease (MD) is characterized by enlarged gastric folds with associated protein losing gastropathy. In children it is a rare and self-limited cause of protein losing gastropathy. We report a case of a 2-year-old male who presented with prolonged, refractory emesis and peripheral edema. Workup revealed severe hypoalbuminemia, hypoproteinemia, iron deficiency anemia, and high stool alpha-1 antitrypsin. Hepatic protein synthesis was normal with no urinary protein loss. Endoscopy showed antrum sparing, severe erosive gastritis in body and fundus, characteristic of MD. Histologic examination displayed inflammation with eosinophilia, foveolar hyperplasia, atrophic oxyntic epithelium, and rare CMV inclusions. Patient received antiviral therapy, intravenous albumin, diuretic and was discharged on high protein diet. Follow-up revealed clinical recovery, with endoscopy and histology showing normal gastric mucosa throughout the stomach. It is important to remain vigilant of this condition in pediatric population and to include it in the differential diagnosis in cases of protein losing gastroenteropathy.

Hepatoid carcinoma of the ovary: immunohistochemical finding of one case and literature review

2006 ◽  
Vol 16 (3) ◽  
pp. 1439-1441 ◽  
Author(s):  
S. YİĞİT ◽  
M. A. Uyaroğlu ◽  
Z. Kuş ◽  
N. Ekinci ◽  
Ö ÖZTEKİN
Keyword(s):  
Lower Abdominal Pain ◽  
Serum Levels ◽  
High Serum ◽  
Postmenopausal Bleeding ◽  
Ovarian Mass ◽  
Hepatoid Carcinoma ◽  
Pathologic Features ◽  
Alpha 1 Antitrypsin ◽  
Carcinoma Of The Ovary ◽  
Immunohistochemical Finding

Hepatoid carcinoma is a rare ovarian tumor and is thought to be a histopathologic subtype different from hepatoid type yolk sac tumor based on its pathologic features. A 63-year-old woman who had postmenopausal bleeding and lower abdominal pain was found to have right ovarian mass on pelvic examination and computed tomography. She had high serum levels of alpha fetoprotein (AFP) and CA125. Histologically, the tumor resembled hepatocellular carcinoma by architectural and cytologic features. Immunohistochemically tumor cells were immunoreactive for AFP, alpha 1 antitrypsin, and carcinoembryonic antigens.

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