scholarly journals Vitamine B12 deficiency in children : a diagnostic challenge

2021 ◽  
Vol 84 (1) ◽  
pp. 121-124
Author(s):  
J Van Vlaenderen ◽  
J Christiaens ◽  
M Van Winckel ◽  
R De Bruyne ◽  
S Vande Velde ◽  
...  

Cobalamin or vitamin B12 (vitB12) is involved in DNA synthesis, haematopoiesis and myelinisation. Consequently, vitB12 deficiency causes various symptoms, such as megaloblastic anaemia, neurologic signs or pancytopenia. Despite possible severe symptoms, vitB12 deficiency can present asymptomatically. We report six paediatric patients with different aetiologies of vitB12 deficiency ranging from a subtle to a more overt presentation. VitB12 deficiency is a diagnostic challenge due to the lack of consensus on normal values of vitB12 and its co-markers (folate, holotranscobalamin, methylmalonic acid, homocysteine) and the lack in specificity and sensitivity of the serum vitB12 analysis. All cases were treated with parenteral vitB12. Last decades, evidence supporting high dose oral treatment being as effective as the intramuscular (IM) therapy, also in children, is growing.


2020 ◽  
pp. 5407-5426
Author(s):  
A.V. Hoffbrand

Megaloblastic anaemias are characterized by red blood cell macrocytosis. They arise because of inhibition of DNA synthesis in the bone marrow, usually due to deficiency of one or other of vitamin B12 (cobalamin) or folate, but sometimes as a consequence of a drug or a congenital or acquired biochemical defect that disturbs vitamin B12 or folate metabolism, or affects DNA synthesis independent of vitamin B12 or folate. Acquired pernicious anaemia—antibodies in serum and gastric juice directed against parietal cells (85–90% of cases) and intrinsic factor (50%), and raised serum gastrin are associated with autoimmune gastritis and failure of absorption of vitamin B12. Treatment and prevention of megaloblastic anaemia—vitamin B12 deficiency—may be treated with intramuscular hydroxocobalamin (1-mg doses, six given in the first 2–3 weeks, then every 3 months). Oral therapy is practised by a minority and is unlikely to be useful in pernicious anaemia. Neurological complications are irreversible unless treated early. Folate deficiency—high-dose oral folic acid (5 mg daily) overcomes folate malabsorption, but this should not be given alone where vitamin B12 deficiency coexists because neurological disease may be precipitated or exacerbated (although the haematological abnormalities improve). Where folate metabolism is disturbed by methotrexate, oral or parenteral folinic acid is given to restore DNA synthesis. Prevention—dietary folate fortification is an accepted and highly effective public health measure in many countries (none in Europe) for reducing the incidence of neural tube birth defects.



Author(s):  
Galia Barash ◽  
Haim Bassan ◽  
Ayelet Livne ◽  
Lilach Benyamini ◽  
Eli Heyman ◽  
...  


Author(s):  
Fiona V Cresswell ◽  
David B Meya ◽  
Enock Kagimu ◽  
Daniel Grint ◽  
Lindsey te Brake ◽  
...  

Abstract Background High-dose rifampicin may improve outcomes of tuberculous meningitis (TBM). Little safety or pharmacokinetic (PK) data exist on high-dose rifampicin in HIV co-infection, and no cerebrospinal fluid (CSF) PK data exist from Africa. We hypothesized that high-dose rifampicin would increase serum and CSF concentrations without excess toxicity. Methods In this phase II open-label trial, Ugandan adults with suspected TBM were randomised to standard-of-care control (PO-10, rifampicin 10mg/kg/day), intravenous rifampicin (IV-20, 20mg/kg/day), or high-dose oral rifampicin (PO-35, 35mg/kg/day). We performed PK sampling on day 2 and 14. The primary outcomes were total exposure (AUC0-24), maximum concentration (Cmax), CSF concentration and grade 3-5 adverse events. Results We enrolled 61 adults, 92% were HIV-positive, median CD4 count was 50cells/µL (IQR 46–56). On day 2, geometric mean plasma AUC0-24hr was 42.9h.mg/L with standard-of-care 10mg/kg dosing, 249h.mg/L for IV-20 and 327h.mg/L for PO-35 (P<0.001). In CSF, standard-of-care achieved undetectable rifampicin concentration in 56% of participants and geometric mean AUC0-24hr 0.27mg/L, compared with 1.74mg/L (95%CI 1.2–2.5) for IV-20 and 2.17mg/L (1.6–2.9) for PO-35 regimens (p<0.001). Achieving CSF concentrations above rifampicin minimal inhibitory concentration (MIC) occurred in 11% (2/18) of standard-of-care, 93% (14/15) of IV-20, and 95% (18/19) of PO-35 participants. Higher serum and CSF levels were sustained at day 14. Adverse events did not differ by dose (p=0.34) Conclusion Current international guidelines result in sub-therapeutic CSF rifampicin concentration for 89% of Ugandan TBM patients. High-dose intravenous and oral rifampicin were safe, and respectively resulted in exposures ~6- and ~8-fold higher than standard-of-care, and CSF levels above the MIC



Viruses ◽  
2021 ◽  
Vol 13 (7) ◽  
pp. 1319
Author(s):  
Maria del Pilar Martinez Viedma ◽  
Stephen Panossian ◽  
Kennedy Gifford ◽  
Kimberly García ◽  
Isis Figueroa ◽  
...  

Zika virus (ZIKV) is a mosquito-borne Flavivirus with a positive-sense RNA genome, which are generally transmitted through the bite of an infected Aedes mosquito. ZIKV infections could be associated with neurological sequelae that, and otherwise produces similar clinical symptoms as other co-circulating pathogens. Past infection with one member of the Flavivirus genus often induces cross-reactive antibodies against other flaviruses. These attributes complicate the ability to differentially diagnose ZIKV infection from other endemic mosquito-borne viruses, making it both a public health issue as well as a diagnostic challenge. We report the results from serological analyses using arbovirus-specific peptides on 339 samples that were previously collected from 6 countries. Overall, we found that our multiplexed peptide-based ELISA was highly efficient for identifying ZIKV antibodies as early as 2 weeks post infection, and that it correlates with microneutralization, plaque reduction neutralization tests (PRNTs) and commercial tests for ZIKV in previously characterized samples. We observed that seropositivity varied by patient cohort, reflecting the sampling period in relation to the 2015–2016 ZIKV outbreak. This work evaluates the accuracy, specificity, and sensitivity of our peptide-based ELISA method for detecting ZIKV antibodies from geographically diverse regions. These findings can contribute to ongoing serological methods development and can be adapted for use in future studies.





2018 ◽  
Vol 121 (12) ◽  
pp. 1530-1533
Author(s):  
Leonardo Liberman ◽  
Thomas J. Starc ◽  
Eric S. Silver


1987 ◽  
Vol 10 (3) ◽  
pp. 257-263 ◽  
Author(s):  
Stephen B. Edge ◽  
William K. Funkhouser ◽  
Arlene Berman ◽  
Claudia Seipp ◽  
Anne Tanner ◽  
...  


Open Medicine ◽  
2011 ◽  
Vol 6 (5) ◽  
pp. 631-633
Author(s):  
Yoshiro Horai ◽  
Tomoya Miyamura ◽  
Karin Shimada ◽  
Soichiro Takahama ◽  
Rumi Minami ◽  
...  

AbstractWe report a 71-year-old male with microscopic polyangiitis (MPA) who developed sudden-onset, progressive, bilateral visual loss associated with a relapse of MPA symptoms. The patient was referred to our hospital, and treated with intravenous pulse steroid therapy and high-dose oral prednisolone. Although the right eye remained vision deficient, visual acuity in the left eye recovered. Ocular manifestations of MPA are quite uncommon. This case emphasizes the necessity of early detection and initiation of prompt therapy where ocular manifestations of MPA occur.



2021 ◽  
Vol 79 (4) ◽  
pp. 1601-1612
Author(s):  
Johan Frederik Håkonsen Arendt ◽  
Erzsébet Horváth-Puhó ◽  
Henrik Toft Sørensen ◽  
Ebba Nexø ◽  
Lars Pedersen ◽  
...  

Background: It is controversial whether B12 deficiency causes dementia or B12 treatment can prevent dementia. Objective: To assess associations between low plasma (P-)B12 levels, B12 treatment, and risk of Alzheimer’s disease (AD; primary outcome) and all-cause or vascular dementia (secondary outcomes). Methods: We conducted a population-based cohort study using Danish registry data to assess associations between low P-B12 levels, high-dose injection or oral B12 treatment, and risk of dementia (study period 2000–2013). The primary P-B12 cohort included patients with a first-time P-B12 measurement whose subsequent B12 treatment was recorded. The secondary B12 treatment cohort included patients with a first-time B12 prescription and P-B12 measurement within one year before this prescription. For both cohorts, patients with low P-B12 levels (<200 pmol/L) were propensity score-matched 1:1 with patients with normal levels (200–600 pmol/L). We used multivariable Cox regression to compute 0–15-year hazard ratios for dementia. Results: For low P-B12 and normal P-B12 level groups, we included 53,089 patients in the primary P-B12 cohort and 13,656 patients in the secondary B12 treatment cohort. In the P-B12 cohort, hazard ratios for AD centered around one, regardless of follow-up period or treatment during follow-up. In the B12 treatment cohort, risk of AD was unaffected by low pre-treatment P-B12 levels, follow-up period and type of B12 treatment. Findings were similar for all-cause and vascular dementia. Conclusion: We found no associatio1n between low P-B12 levels and dementia. Associations were unaffected by B12 treatment. Results do not support routine screening for B12 deficiency in patients with suspected dementia.



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