scholarly journals Immunologic Phenotype of a Child With the MEHMO Syndrome

2020 ◽  
pp. 927-932
Author(s):  
I TROCHANOVÁ ◽  
D STANÍKOVÁ ◽  
M ŠKOPKOVÁ ◽  
K HAŠTOVÁ ◽  
D GAŠPERÍKOVÁ ◽  
...  

MEHMO syndrome is a rare X-linked syndrome characterized by Mental retardation, Epilepsy, Hypogenitalism, Microcephaly, and Obesity associated with the defect of protein synthesis caused by the EIF2S3 gene mutations. We hypothesized that the defect in protein synthesis could have an impact on the immune system. We describe immunologic phenotype and possible treatment outcomes in patient with MEHMO syndrome carrying a frame-shift mutation (I465fs) in the EIF2S3 gene. The proband (currently 9-year-old boy) had normal IgG and IgM levels, but had frequent respiratory and urinary tract infections. On subcutaneous immunoglobulin therapy achieving supra-physiological IgG levels the frequency of infections significantly decreased in Poisson regression by 54.5 % (CI 33.2-89.7, p=0.017). The MEHMO patient had had frequent acute infections despite normal IgG and IgM serum levels and responded well to the immunoglobulin treatment.

Author(s):  
Kristi L. Boldt

Infection is the most common complication during pregnancy and the postpartum period. Choices are limited for antibiotic therapy are limited. One must take into account the effect of pregnancy on serum levels, distribution of antibiotics, placental transfer, the fetus, the newborn, excretion in milk, the breast-feeding infant. Antimicrobial therapy is selected on the basis of experience and guidelines. Diagnosis and treatment of urinary tract infections, bacterial vaginosis, preterm labor, preterm rupture of membranes, intra-amniotic infection, and major perinatal and puerperal infections are reviewed.


2019 ◽  
Vol 71 (1) ◽  
pp. 100-108 ◽  
Author(s):  
Katia J Bruxvoort ◽  
Zoe Bider-Canfield ◽  
Joan A Casey ◽  
Lei Qian ◽  
Alice Pressman ◽  
...  

Abstract Background Urinary tract infections (UTIs) occur commonly, but recent data on UTI rates are scarce. It is unknown how the growth of virtual healthcare delivery affects outpatient UTI management and trends in the United States. Methods From 1 January 2008 to 31 December 2017, UTIs from outpatient settings (office, emergency, and virtual visits) were identified from electronic health records at Kaiser Permanente Southern California using multiple UTI definitions. Annual rates estimated by Poisson regression were stratified by sex, care setting, age, and race/ethnicity. Annual trends were estimated by linear or piecewise Poisson regression. Results UTIs occurred in 1 065 955 individuals. Rates per 1000 person-years were 53.7 (95% confidence interval [CI], 50.6–57.0) by diagnosis code with antibiotic and 25.8 (95% CI, 24.7–26.9) by positive culture. Compared to office and emergency visits, UTIs were increasingly diagnosed in virtual visits, where rates by diagnosis code with antibiotic increased annually by 21.2% (95% CI, 16.5%–26.2%) in females and 29.3% (95% CI, 23.7%–35.3%) in males. Only 32% of virtual care diagnoses had a culture order. Overall, UTI rates were highest and increased the most in older adults. Rates were also higher in Hispanic and white females and black and white males. Conclusions Outpatient UTI rates increased from 2008 to 2017, especially in virtual care and among older adults. Virtual care is important for expanding access to health services, but strategies are needed in all outpatient care settings to ensure accurate UTI diagnosis and reduce inappropriate antibiotic treatment.


1996 ◽  
Vol 116 (2) ◽  
pp. 193-201 ◽  
Author(s):  
P. M. Higgins

SUMMARYTwenty-one patients considered to have acute poststreptococcal glomerulo-nephritis were encountered during 35 years of general practice. In ten of them good evidence of active streptococcal infection at the time of discovery of nephritis was recorded. The more complete the data the more convincing was the evidence of active infection.In over half of those whose urines were routinely cultured pathogens were isolated and over a third were treated for infection of the urinary tract. Such infections were associated with adverse effects and prolonged illness.As compared with children, adults in general had a longer history of ill-health, were less likely to present with acute infections and more likely to have urinary tract infections and prolonged illness.Vigorous antistreptococcal treatment was followed by rapid recovery in those patients so treated whose illnesses were not complicated by urinary tract infections.Concurrent streptococcal infection and secondary infection of the urinary tract may contribute more to the onset of acute poststreptococcal glomerulo-nephritis and to its course than is currently believed.


2017 ◽  
Vol 3 (4) ◽  
pp. FSO242 ◽  
Author(s):  
Alireza Rafiei ◽  
Hamid Mohammadjafari ◽  
Ayat Ahifar ◽  
Abbas Alipour ◽  
Araz Mohammad Mirabi

2021 ◽  
Vol 9 ◽  
Author(s):  
Liat Ashkenazi-Hoffnung ◽  
Gilat Livni ◽  
Oded Scheuerman ◽  
Itay Berger ◽  
Eran Eden ◽  
...  

Background: It is estimated that clinical evaluation and urinalysis are unable to diagnose >10% of urinary tract infections (UTI) in young children. TNF-related apoptosis induced ligand (TRAIL), interferon gamma induced protein-10 (IP-10), and C-reactive protein (CRP) exhibit differential expression in the blood in response to bacterial vs. viral infection. We assessed if the urinary and serum levels of these host biomarkers discriminate UTI, nephronia, and response to antibiotic treatment.Methods: Hospitalized febrile children aged <18 years with suspected UTI based on abnormal urinalysis were recruited prospectively between 2016 and 2018; also, non-febrile controls were recruited. Following urine culture results and hospitalization course, participants were divided into three groups based on AAP criteria and expert adjudication: UTI, viral infection, and indeterminate.Results: Seventy-three children were enrolled, 61 with suspected UTI and 12 non-febrile controls. Of the 61 with suspected UTI, 40 were adjudicated as UTI, 10 viral infection, and 11 as indeterminate. Urinary CRP and IP-10 levels were significantly higher in the UTI group (p ≤ 0.05). Urinary CRP differentiated UTI from non-bacterial etiology in children under and over 3 months of age, with AUCs 0.98 (95% CI: 0.93–1.00) and 0.82 (0.68–0.95), respectively. Similarly, urinary IP-10 discriminated with AUCs of 0.80 (0.59–1.00) and 0.90 (0.80–1.00), respectively. Serum CRP and IP-10 levels were significantly higher in UTI cases with nephronia (p ≤ 0.03). UTI-induced changes in the levels of urinary and serum biomarkers resolved during recovery.Conclusions: CRP, IP-10, and TRAIL represent biomarkers with potential to aid the clinician in diagnosis and management of UTI.


2021 ◽  
Vol 33 ◽  
pp. 67-76
Author(s):  
Alberto Edefonti ◽  
Antonio Vergori ◽  
Giovanni Montini ◽  
Francesco Emma

Examples of innovative research in pediatric nephrology include: a) the typically pediatric field of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT), which has benefited from the discovery of numerous gene mutations responsible for the various malformations and the demonstration of the congenital origin of most of the renal damage, resulting in a decrease of invasive imaging, antibiotic prophylaxis and surgery; b) the approach to glomerular diseases that appear in childhood, like idiopathic nephrotic syndrome (INS), IgA nephropathy (IgAN) and C3 glomerulopathies (C3G). B and T lymphocyte disregulations and molecular podocyte alterations of immunological and genetic origin have been described in INS as main determinants of proteinuria. In IgAN, the discovery of an abnormal IgA glycosilation in the mucosal B cells has driven to new trials with Budesonide and Sparsentan and to innovative therapies, like atacicept. A new classification of C3G has been proposed after the description of genetic mutations of factors inhibiting activation of the alternative complement pathway, and monoclonal anti-C5 antibody Eculizumab has consequently entered the therapeutic armamentarium; c) the initial attempts at gene therapy, with promising results obtained in Alport syndrome, nephropathic cystinosis and Dent syndrome. Moreover, a clear example of precision medicine is represented by the refinement of the dosage of Eculizumab in the treatment of atypical HUS, while slow-medicine recommendations exist for common clinical conditions, like urinary tract infections, microscopic hematuria and proteinuria.  


Author(s):  
M. Kolesnуk ◽  
V. Driianska ◽  
N. Stepanova ◽  
O. Lavrenchuk ◽  
I. Bagdasarova ◽  
...  

Pro- and anti-inflammatory cytokines, SLPI and NGAL are involved in anti-infectious immunity. Studies of these indicators’ role in patients with urinary tract infections (UTIs) may determine their significance as diagnostic and prognostic markers in the case of pyelonephritis and cystitis. The objective of our study was to investigate plasma and urine cytokines and SLPI levels in patients with UTIs, determine the features in children and adults. Materials and methods. ELISA method and related test systems - «Immunotech», «Diaclon» (France); «DRG» (Germany), «Hycult biotechnology» ((Netherlands)  were used to study blood cytokine levels in 118 adults and 67 children, SLPI levels in the blood and urine in 59 and 58, respectively. NGAL serum levels of 26 adults with acute pyelonephritis (AP) and 30 adults with chronic pyelonephritis (ChP) were studied using «Human lipocalin-2 / NGAL ELIZA» (Biovendor, Czech Republik) for NGAL. Comparison groups included 10 healthy donors and 11 patients with acute kidney injury (AKI).  Results. The study showed an increase in pro- (IL-1, -17, -18, -23, TNF-α, MCP-1) and anti-inflammatory cytokines (IL-17, TGF-β), SLPI, NGAL in patients with UTI, some features in the case of chronic cystitis (ChC), AP and ChP. In adults, TNF-α in the blood and urine, IL-17 in the blood was higher in the case of ChC than ChP. The analysis showed a significant increase in all studied indicators’ levels for AP and ChP in children and adults. The average MCP-1 level in patients with AP was significantly higher than ChP, whereas TNF-α did not differ. In adults, IL-18 and IL-23 were highest in the case of AP, and TGF-β was the highest in the case of ChP. MCP-1, IL-23 levels in the blood of adults were higher than in children in the case of AP, and TNF-α - in the case of ChP. SLPI is involved in the AP pathogenesis and ChP exacerbation. High SLPI levels have been determined in serum and urine (NGAL in the blood) in patients with pyelonephritis (NGAL - AP) who can be used, as well as cytokines, as additional diagnostic and prognostic markers. Conclusions. High levels of TNF-α, MCP-1, and IL-23 in the blood of adults and children confirm their important role in both AP and ChP, but MCP-1 can be considered as an AP predictor/ ChP exacerbation. According to the studied cytokines, adults have a more significant immune response. The SLPI level is an additional feature for diagnosing and monitoring the course of pyelonephritis and cystitis.


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