The frequency of vitamin B 12, iron, folic acid deficiency in neonatal period and infancy and relationship with maternal levels

Tıpta Uzmanlık TeziB 12 vitamininin en önemli işlevi hücre bölünmesi ve çoğalması için gerekli olan DNA sentezini desteklemesidir. Eksikliğinde süt çocuklarında megaloblastik anemi, büyüme ve nöromotor gelişimde geriliğe yol açabilir. Annelerinde eksiklik olan ve düşük B 12 vitamini depolarıyla doğan yenidoğanlar süt çocukluğu döneminde eksiklik bulguları gelişmesi açısından risk altındadır. Bu çalışmada bölgemizdeki gebelerde, onların yenidoğan bebeklerinde ve süt çocukluğu dönemlerinde anemi, B 12 vitamini, folik asit ve ferritin eksikliği sıklığı ve yenidoğandaki düzeylerin maternal düzeyler ile ilişkisinin araştırılması amaçlandı. Çalışmaya Trakya Üniversitesi Tıp Fakültesi Kadın Hastalıkları ve Doğum Servisine doğum amacıyla başvuran 38?42 gebelik haftasında olan 250 gebe ve onların 2500 gram üstünde doğan sağlıklı bebekleri alındı. Çalışmamızdaki gebelerin %24,8'i anemikti, %28'inde ise ferritin düşüklüğü, %73,6'sında B 12 vitamini eksikliği, %22,4'ünde de folik asit eksikliği saptandı. Yenidoğanların %3,2'sinde anemi, %2,8'inde ferritin düşüklüğü, %42,8'inde B 12 vitamini eksikliği saptandı. Kontrole getirilen süt çocuklarının %22,3'ünde anemi, %14,9'unda ferritin düşüklüğü, %17,02'sinde B 12 vitamini eksikliği, %1,06'sında folik asit eksikliği gözlendi. Ayrıca yenidoğanlardaki B 12 vitamini ve folik asit düzeylerinin annelerindeki düzeylerle ilişkili olduğu saptandı. Sonuç olarak, gebelerdeki B 12 vitamini eksikliği önlenerek yenidoğanların düşük depo ile doğmaları ve süt çocukluğu döneminde eksikliğe bağlı geri dönüşümsüz olabilen özellikle nörolojik bulguların gelişmesi önlenebilir.AbstarctThe most important function of vitamin B12 is to accomplish DNA synthesis which is necessary for cell division and proliferation. Deficiency of vitamin B12 causes megaloblastic anemia, retardation of growth and delay in neuromotor maturation. The newborns whose mothers have vitamin B12 deficiency are born with low vitamin B12 storages, are at risk of vitamin B 12 deficiency symptoms during infancy. The aim of our study was to investigate the frequency of anemia and deficiency of vitamin B12, folic acid and iron in pregnant women living in our region and in their newborn babies and during the infancy period of these babies. Another aim of our study was to investigate the correlation between the levels of these vitamins in newborns and in their mothers. In our study, 250 pregnant women at 38-42 gestational weeks, who were admitted for delivery to Medical Faculty of Trakya University, Gynecology and Obstetric Clinic and their babies with a birth weigth over 2500 grams were included in the study. We determined that 24.8% of pregnant women had anemia, 28% of cases had low ferritin level, 73.6% of cases had vitamin B 12 deficiency, 22.4% of cases had folic acid deficiency. In the newborns, 3.2% of cases had anemia, 2.8% of cases had low ferritin level, 42.8% of newborn infants had vitamin B 12 deficiency. In infants who applied for control at 6 months of age, we observed that 22.3% had anemia, 14.9% had low ferritin level, 17.02% had vitamin B 12 deficiency, 1.06% of infants had folic acid deficiency. In addition, we determined that levels of vitamin B12 and folic acid in newborns were related to levels of vitamin B12 and folic acid in their mothers. In conclusion, by prevention of vitamin B 12 deficiency in pregnancy, the development of low vitamin B 12 stores in the newborn and the development of vitamin B 12 deficiency during infancy which can end up with irreversible complications especially neurologic ones can be avoided

Long-Term Follow-Up of a Case with Nijmegen Breakage Syndrome

The Nijmegen Breakage Syndrome (NBS) is a rare chromosomal instability disorder clinically characterized by microcephaly, typical facial appearance, growth and mental retardation, immunodeficiency and a significant predisposition to lymphoid malignancy. The gene mutated in NBS, NBS1, has been mapped to the 8q21 chromosome. The product of this gene is a protein with a molecular weight of 95 kDa named nibrin. One of the common features of NBS is dysregulation of both cellular and humoral arms of the immune system, resulting in recurrent bacterial and viral infections, mainly of the respiratory tract. NBS is a rare syndrome. It should be considered that NBS may be associated with immunodeficienc

Kronik Granülomatöz Hastalıklı Olgularımızın Değerlendirilmesi: Konya Deneyimi

This contribution presents a novelMEMS accelerometer model implemented in VHDL-AMS. The model includes sense finger dynamics, which allow accurate performance prediction of a MEMS accelerometer in a mixed-technology control loop. A distributed mechanical sensing element model is developed and the effect of the sense finger dynamics is analyzed. The sense finger dynamics might cause a failure of the Sigma-Delta control loop which is captured by the proposed model but cannot be correctly modeled using the conventional approach

Inherited IFNAR1 Deficiency in Otherwise Healthy Patients with Adverse Reaction to Measles and Yellow Fever Live Vaccines

Vaccination against measles, mumps, and rubella (MMR) and yellow fever (YF) with live attenuated viruses can rarely cause life-threatening disease. Severe illness by MMR vaccines can be caused by inborn errors of type I and/or III interferon (IFN) immunity (mutations in IFNAR2, STAT1, or STAT2). Adverse reactions to the YF vaccine have remained unexplained. We report two otherwise healthy patients, a 9-yr-old boy in Iran with severe measles vaccine disease at 1 yr and a 14-yr-old girl in Brazil with viscerotropic disease caused by the YF vaccine at 12 yr. The Iranian patient is homozygous and the Brazilian patient compound heterozygous for loss-of-function IFNAR1 variations. Patient-derived fibroblasts are susceptible to viruses, including the YF and measles virus vaccine strains, in the absence or presence of exogenous type I IFN. The patients\u27 fibroblast phenotypes are rescued with WT IFNAR1 Autosomal recessive, complete IFNAR1 deficiency can result in life-threatening complications of vaccination with live attenuated measles and YF viruses in previously healthy individuals

Correction to: Primary antibody deficiencies in Turkey: molecular and clinical aspects (Immunologic Research, (2022), 70, 1, (44-55), 10.1007/s12026-021-09242-z)

The original published version of this article contained a mistake in one of the afliations. The correct afliation of author Manolya Kara (7) should read

Type I Ifn-Related Netosis In Ataxia Telangiectasia And Artemis Deficiency

Background: Pathological inflammatory syndromes of unknown etiology are commonly observed in ataxia telangiectasia (AT) and Artemis deficiency. Similar inflammatory manifestations also exist in patients with STING-associated vasculopathy in infancy (SAVI). Objective: We sought to test the hypothesis that the inflammation-associated manifestations observed in patients with AT and Artemis deficiency stem from increased type I IFN signature leading to neutrophil-mediated pathological damage. Methods: Cytokine/protein signatures were determined by ELISA, cytometric bead array, or quantitative PCR. Stat1 phosphorylation levels were determined by flow cytometry. DNA species accumulating in the cytosol of patients' cells were quantified microscopically and flow cytometrically. Propensity of isolated polymorhonuclear granulocytes to form neutrophil extracellular traps (NETs) was determined using fluorescence microscopy and picogreen assay. Neutrophil reactive oxygen species levels and mitochondrial stress were assayed using fluorogenic probes, microscopy, and flow cytometry. Results: Type I and III IFNsignatures were elevated in plasma and peripheral blood cells of patients with AT, Artemis deficiency, and SAVI. Chronic IFN production stemmed fromthe accumulation of DNA in the cytoplasm of ATand Artemis-deficient cells. Neutrophils isolated from patients spontaneously produced NETs and displayed indicators of oxidative and mitochondrial stress, supportive of theirNETotic tendencies. Asimilar phenomenonwas also observed in neutrophils from healthy controls exposed to patient plasma samples or exogeneous IFN-alpha. Conclusions: Type I IFN-mediated neutrophil activation and NET formation may contribute to inflammatory manifestations observed in patients with AT, Artemis deficiency, and SAVI. Thus, neutrophils represent a promising target to manage inflammatory syndromes in diseases with active type I IFN signature.Wo