Severe congenital autoimmune neutropenia in preterm monozygotic twins: case series and literature review

2018 ◽  
Vol 7 (2) ◽  
Author(s):  
Rehab Abdelhamid ◽  
Kamran Yusuf ◽  
Abhay Lodha ◽  
Essa Hamadan Al Awad

AbstractThe presence of high levels of neutrophil associated immunoglobulins (NAIG) in the serum of newborns with neutropenia and their mothers is usually associated with the diagnosis of allo-immune neonatal neutropenia (AINN). We describe a set of otherwise healthy late preterm monozygotic twins who presented with an isolated severe neonatal neutropenia on the first day of life. Flow cytometry for neutrophil antibody screen for both twins detected elevated levels of NAIG with normal serum levels of allo anti-neutrophil antibody (allo-NAB). Maternal serum did not contain either NAIG or allo-NAB. Also, the NAIG immunoglobulin M (IgM) levels were markedly increased in both twins if compared to the increase in the NAIG immunoglobulin G (IgG). Both twins showed very good response to a short course treatment with granulocyte colony stimulating factor (G-CSF), they remained clinically well until 12 months of age. We suggest that this case may be an early presentation of autoimmune neutropenia of infancy. This case study is the earliest report of autoimmune neutropenia of infancy in preterm monozygotic twins.

2019 ◽  
Vol 15 (2) ◽  
pp. 207-212
Author(s):  
Vinita Verma ◽  
Hina Oza ◽  
Riddhi Thaker ◽  
Sunil Kumar

Background: Preterm Birth (PTB) is one of the main causes of neonatal death and infant mortality and morbidity. The pro-inflammatory cytokine interleukin-6 (IL-6) is a major proinflammatory mediator of the host response to infection and malondialdehyde (MDA) is a marker of oxidative stress. Objective : To evaluate potential associations between IL-6 and MDA levels in women with preterm birth. Method: A total of 150 women (66 with full-term and 84 with PTB) were enrolled in this case-control study. Predesigned performas were filled through questionnaire interviews to collect data on personal, demographic, occupational, lifestyle and reproductive history. Blood samples were collected within 36 hours of delivery. Serum concentrations of IL-6 and MDA were determined in mothers with full-term and preterm birth. Results: The mean age was marginally higher; whereas BMI was slightly lower in cases (PTB) as compared to controls (full-term) subjects. Serum IL-6 and MDA levels were significantly higher in subjects with PTB than full-term birth. The data were further analyzed with respect to underweight, normal and overweight/obese BMI. In all the BMI categories, the levels of IL-6 and MDA were higher in PTB cases. Among the PTB categories, the levels of IL-6 and MDA were highest in moderate to late preterm birth. A significant positive correlation was found between IL-6 and MDA levels. There was a weak negative correlation between either IL-6 or MDA and the number of gestational weeks. Conclusion : Elevated maternal serum levels of Interleukin-6 and Malondialdehyde in preterm as compared to full-term birth might suggest that inflammation and oxidative stress play a critical role in PTB.


2020 ◽  
Vol 9 (1) ◽  
pp. 183 ◽  
Author(s):  
Katarzyna Kosinska-Kaczynska ◽  
Magdalena Zgliczynska ◽  
Szymon Kozlowski ◽  
Lukasz Wicherek

Multiple gestation is one of the key risk factors for the occurrence of preeclampsia (PE). Soluble fms-like tyrosine kinase-1, placental growth factor, and soluble endoglin are molecules involved in the process of angiogenesis with a proven role in the pathogenesis of PE. The aim of the review was to summarize available data on maternal serum levels of the above-mentioned factors and their usefulness in predicting PE in twin pregnancies. Only original research articles written in English were considered eligible. Reviews, chapters, case studies, conference papers, experts’ opinions, editorials, and letters were excluded from the analysis. No publication date limitations were imposed. The systematic literature search using PubMed/MEDLINE, Scopus, Embase, and Cochrane Library databases identified 338 articles, 10 of which were included in the final qualitative analyses. The included studies showed significant differences in maternal serum levels of the discussed factors between women with twin pregnancies with PE and those who did not develop PE, and their promising performance in predicting PE, alone or in combination with other factors. The identification of the most effective algorithms, their prompt introduction to the clinical practice, and further assessment of the real-life performance should become a priority.


1981 ◽  
Vol 231 (1) ◽  
pp. 69-73 ◽  
Author(s):  
N. J. Karg ◽  
I. F. Csaba ◽  
G. N. Than ◽  
A. A. Arany ◽  
D. G. Szabó
Keyword(s):  

2009 ◽  
Vol 4 ◽  
pp. BMI.S1115 ◽  
Author(s):  
Anthony J. Russo ◽  
Lauren Neville ◽  
Christine Wroge

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.


Placenta ◽  
2013 ◽  
Vol 34 (9) ◽  
pp. A41
Author(s):  
Julien Yockell-Lelievre ◽  
Barbara Vanderhyden ◽  
Andree Gruslin

PEDIATRICS ◽  
1953 ◽  
Vol 12 (5) ◽  
pp. 575-583
Author(s):  
ROBERT A. GOOD ◽  
VINCENT C. KELLEY ◽  
THOMAS A. GOOD ◽  
DAVID GLICK

Normal maternal serum and newborn infant serum have been compared with respect to their content of nonspecific hyaluronidase inhibitor and mucoprotein. Elevations in serum levels of hyaluronidase inhibitor and mucoprotein were found in maternal serum while decreased concentrations of mucoprotein and normal levels of hyaluronidase inhibitor characterized the serum of infants at birth. Mucoprotein concentrations in maternal serum increase for a period following delivery and remain at high levels for at least one month. Increase from low mucoprotein levels occurred in infants' serums during the first month of life and levels comparable to those of normal adults were found throughout the remainder of the first year. The relation of these findings to studies of other protein constituents in maternal and infant serum is discussed as are possible mechanisms to explain the results obtained.


2018 ◽  
Vol 13 (2) ◽  
pp. 149 ◽  
Author(s):  
Naureen Shehzadi ◽  
Khalid Hussain ◽  
Nadeem Irfan Bukhari ◽  
Muhammad Islam ◽  
Muhammad Tanveer Khan ◽  
...  

<p class="Abstract">The present study aimed at the evaluation of anti-hyperglycemic and hepatoprotective potential of a new drug candidate, 5-[(4-chlorophenoxy) methyl]-1,3,4-oxadiazole-2-thiol (OXCPM) through in vitro and in vivo assays, respectively. The compound displayed excellent dose-dependent ɑ-amylase (28.0-92.0%), ɑ-glucosidase (40.3-93.1%) and hemoglobin glycosylation (9.0%-54.9%) inhibitory effects and promoted the uptake of glucose by the yeast cells (0.2 to 26.3%). The treatment of the isoniazid- and rifampicin- (p.o., 50 mg/kg of each) intoxicated rats with OXCPM (100 mg/kg, p.o.) resulted in restoring the normal serum levels of the non-enzymatic (total bilirubin, total protein and albumin) and bringing about a remarkable decrease in the levels of enzymatic (alanine transaminases, aspartate transaminases and alkaline phosphatase) biomarkers. The molecular docking studies indicated high binding affinity of the compound for hyperglycemia-related protein targets; fructose-1,6-bisphosphatase, beta<sub>2</sub>-adrenergic receptors and glucokinase. The results indicate that OXCPM may not only reduce hyperglycemia by enzyme inhibition but also the disease complications through protection of hemoglobin glycosylation and hepatic injury.</p><p class="Abstract"><strong>Video Clip of Methodology:</strong></p><p class="Abstract">Glucose uptake by yeast cells:   4 min 51 sec   <a href="https://www.youtube.com/v/8cJkuMtV0Wc">Full Screen</a>   <a href="https://www.youtube.com/watch?v=8cJkuMtV0Wc">Alternate</a></p>


2017 ◽  
Vol 11 (2) ◽  
pp. 359-363 ◽  
Author(s):  
Omar Nadhem ◽  
Omar Salh

Acute pancreatitis is an important cause of acute upper abdominal pain. Because its clinical features are similar to a number of other acute illnesses, it is difficult to make a diagnosis only on the basis of symptoms and signs. The diagnosis of acute pancreatitis is based on 2 of the following 3 criteria: (1) abdominal pain consistent with pancreatitis, (2) serum lipase and/or amylase ≥3 times the upper limit of normal, and (3) characteristic findings from abdominal imaging. The sensitivity and specificity of lipase in diagnosing acute pancreatitis are undisputed. However, normal lipase level should not exclude a pancreatitis diagnosis. In patients with atypical pancreatitis presentation, imaging is needed. We experienced two cases of acute pancreatitis associated with normal serum enzyme levels. Both patients were diagnosed based on clinical and radiological evidence. They were successfully treated with intravenous fluids and analgesics with clinical and laboratory improvement. The importance of this case series is the unlikely presentation of acute pancreatitis. We believe that more research is needed to determine the exact proportion of acute pancreatitis patients who first present with normal serum lipase, since similar cases have been seen in case reports.


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