Specific IgE (sIgE) may be used for the diagnosis of cow's milk allergy (CMA) and as a guide to perform food challenge tests in patients with CMA. The effect of genetic variants on the prognosis of ...food allergy is largely unknown.
To examine the performance of sIgE analysis and the utility of the genetic variants of CD14, STAT6, IL13, IL10, SPINK5, and TSLP in predicting the clinical course in children with CMA.
Serum sIgE levels of 94 children who underwent open food challenges and 54 children with anaphylaxis due to cow's milk (CM) were retrospectively analyzed between January 2002 and May 2009. The genetic polymorphisms were determined in 72 children.
A total of 148 children were followed up for a median of 3.5 years, and 42 of the 94 challenge results were positive. The probability curves with 95% decision points were 2.8 kU/L for younger than 1 year, 11.1 for younger than 2 years, 11.7 for younger than 4 years, and 13.7 for younger than 6 years. Sixty-six children outgrew CMA during follow-up. Children with initial an CM sIgE level less than 6 kU/L outgrew CMA earlier than children with an initial CM sIgE level of 6 kU/L or higher (P < .001). The age of tolerance development for CM was significantly higher in children with the GG genotype at rs324015 of the STAT6 gene compared with those with the AA+AG genotype (2 years range, 1.5-3.9 years vs 1.2 years range, 1.0-2.2 years) (P = .02).
The decision points of sIgE obtained in different age groups may help to determine the likelihood of clinical reactivity more precisely. The results suggest that sIgE levels and STAT6 gene variants may be important determinants to predict longer persistence of CMA.
Niemann–Pick type C (NPC; OMIM 257219 ) disease is a neurodegenerative lysosomal storage disorder characterized by accumulation of unesterified cholesterol in the lysosomal/late endosomal system. ...This autosomal recessive disorder occurs in approximately 1/150,000 births. The broad clinical spectrum ranges from a prenatal severe presentation to an adult-onset chronic neurodegenerative disease. Data about prenatal presentation of NPC are limited. A female newborn was born at 342 weeks' gestation with a birth weight of 3070 g, and transferred to the Neonatal Intensive Care Unit because of nonimmune hydrops fetalis (NIHF) and respiratory distress. On admission, a physical examination revealed skin edema, mild respiratory distress, and abdominal distention due to massive ascites. Hepatosplenomegaly and cholestasis increased progressively and bleeding diathesis occurred. Results of an abdominal ultrasonography showed hepatosplenomegaly and segmental multicystic dysplastic left kidney. Foamy cells with a lysosomal phospholipid storage pattern compatible with NPC were found in the bone marrow smear. Cultured fibroblasts showed a strongly elevated filipin staining (classical NPC cellular phenotype), establishing the diagnosis of NPC. The infant died on the 52nd day of life because of respiratory distress due to lung involvement of NPC, massive ascites, and progressive liver failure. Results of an autopsy showed multiorgan storage disease involving the liver, spleen, lymph nodes, thymus, lungs, and brain. Here, we present a preterm infant with NIHF as a sign of severe prenatal-onset NPC and review the literature.
To analyze the changes in ganglion cell complex (GCC), peripapillary retinal nerve fiber layer (RNFL) thickness and central macular thickness (CMT) on spectral domain optical coherence tomography ...(OCT) in patients with thalassemia major. Forty one eyes of 41 patients with thalassemia major and 41 eyes of 41 healthy subjects were included in this prospective and comparative study. Peripapillary RNFL thickness, CMT and macular GCC thickness were evaluated with OCT (Cirrus HD-OCT 5000Carl Zeiss Meditec, Inc, Dublin, CA, USA) in all patients and healthy controls. Additionally, disease duration, serum ferritin level, hemoglobin concentration, the dosage and duration of chelation therapy, count of transfusion, patient’s weight were analyzed in thalassemia major group. RNFL thickness values were lower in the thalassemia patients but the difference was not statistically significant (except superior quadrant) and there was no significant differences in the mean CMT measurements. GCC thickness was thinner in all areas ( average, superior, inferior, superior-temporal, inferior-temporal, superior-nasal, inferior-nasal) but only the thinning in the inferior-temporal was statistically significant. GCC and RNFL thickness changes occur earlier than CMT changes in β-thalassemia major patients. GCC thickness measurements can be used for follow-up in combination with other diagnostic methods.
Vitamin B12 is essential to all cells in the body. Both high levels and low levels of vitamin B12 are significant. High serum cobalamin (vitamin B12) levels are found particularly in hematological ...disorders, solid tumors, autoimmune diseases, renal diseases and infectious diseases; and this elevation is associated with prognosis in some of these diseases. High levels of serum vitamin B12 should be taken into consideration and more studies should be performed on this issue. Keywords High vitamin B12 level, children, disease Vitamin B12 vucutta butun hucreler icin gereklidir. Vitamin B12 duzeyinin dusuklugu kadar yuksekligi de anlamlidir. Ozellikle hematolojik hastaliklarda, solid tumorlerde, otoimmun hastaliklarda, renal hastaliklarda ve enfeksiyon hastaliklarinda yuksek serum kobalamin duzeyleri saptanmistir ve bu yukseklik bazi hastaliklarda prognozla iliskili bulunmustur. Serum vitamin B12 yuksekligi dikkate alinmali ve bu konuda daha fazla calisma yapilmalidir. Anahtar kelimeler Vitamin B12 yuksekligi, cocuk, hastalik
Vitamin B12 is essential to all cells in the body. Both high levels and low levels of vitamin B12 are significant. High serum cobalamin (vitamin B12) levels are found particularly in hematological ...disorders, solid tumors, autoimmune diseases, renal diseases and infectious diseases; and this elevation is associated with prognosis in some of these diseases. High levels of serum vitamin B12 should be taken into consideration and more studies should be performed on this issue.
Niemann-Pick type C (NPC; OMIM 257219) disease is a neurodegenerative lysosomal storage disorder characterized by accumulation of unesterified cholesterol in the lysosomal/late endosomal system. This ...autosomal recessive disorder occurs in approximately 1/150,000 births. The broad clinical spectrum ranges from a prenatal severe presentation to an adult-onset chronic neurodegenerative disease. Data about prenatal presentation of NPC are limited. A female newborn was born at 34(2) weeks' gestation with a birth weight of 3070 g, and transferred to the Neonatal Intensive Care Unit because of nonimmune hydrops fetalis (NIHF) and respiratory distress. On admission, a physical examination revealed skin edema, mild respiratory distress, and abdominal distention due to massive ascites. Hepatosplenomegaly and cholestasis increased progressively and bleeding diathesis occurred. Results of an abdominal ultrasonography showed hepatosplenomegaly and segmental multicystic dysplastic left kidney. Foamy cells with a lysosomal phospholipid storage pattern compatible with NPC were found in the bone marrow smear. Cultured fibroblasts showed a strongly elevated filipin staining (classical NPC cellular phenotype), establishing the diagnosis of NPC. The infant died on the 52(nd) day of life because of respiratory distress due to lung involvement of NPC, massive ascites, and progressive liver failure. Results of an autopsy showed multiorgan storage disease involving the liver, spleen, lymph nodes, thymus, lungs, and brain. Here, we present a preterm infant with NIHF as a sign of severe prenatal-onset NPC and review the literature.
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