Acute liver failure (ALF) is a relatively rare condition in neonates, and early diagnosis and treatment are crucial for the treatable conditions. Neonatal hemochromatosis (NH) is a rare clinical condition that is clinically defined as severe neonatal liver disease associated with hepatic and extrahepatic iron deposition in a distribution similar to that seen in hereditary hemochromatosis. Although a few cases have been reported with spontaneous remission, early and aggressive medical treatment is essential for improving the outcome. Despite aggressive treatment, some patients may require liver transplantation. We report a five-day-old male infant with NH and associated Duarte variant galactosemia, renal tubulopathy and hypertyrosinemia, who was successfully treated with combination medical treatment. Combination therapy may reduce the need for liver transplantation in infants with NH. Early diagnosis and aggressive treatment are important as in galactosemia or tyrosinemia for the outcome. Thus, NH may be listed as a treatable cause of ALF in neonates.
Antenatal Bartter syndrome (BS) is an autosomal recessive hereditary renal tubular disorder caused by mutation in the solute carrier family 12 member 1 (SLC12A1) gene on chromosome 15q21.1. This syndrome is characterized by polyuria, hyponatremia, hypokalemic hypochloremic metabolic alkalosis, and hypercalciuria associated with increased urinary loss of electrolytes. Herein, we report a very low-birth-weight premature newborn with antenatal BS caused by a novel homozygous mutation in the SLC12A1 gene, c.596G>A (p.R199H).
We compared the absorption of iron from grape molasses (GM) and ferrous sulfate (FS) using the post-absorptive serum iron increase method (non-radioactive). The study involved 56 subjects, aged 6-36 months. Group I consisted of 30 subjects with iron deficiency anemia (IDA) and group II, 26 non-anemic subjects. Each group was subdivided randomly into two equal subgroups to be given either GM or FS. The absorption of the iron from GM was monitored in 15 infants with IDA and in 13 non-anemic infants, and the absorption of iron from FS was tested in the rest of the subjects in each group. In those infants in each group given GM or FS, there was no significant difference in before-test values for serum iron (SI) and total iron binding capacity (TIBC) (p > 0.05). In the group with IDA, the mean after-test SI value in FS-given infants was higher and the mean TIBC value lower than those of GM-given infants (p < 0.05). However, in the non-anemic group, there was no significant difference in the mean after-test SI and TIBC values in either GM- or FS-given infants (p > 0.05). The mean increase of serum iron in GM-given infants with IDA was 27.0 +/- 13.4 micrograms/ dl and in FS-given infants, 60.6 +/- 17.0 micrograms/dl (p < 0.05). In the non-anemic group, the mean increase of serum iron of GM-given infants was 23.0 +/- 4.3 micrograms/dl, and that of FS-given infants, 23.8 +/- 10.0 micrograms/dl (p > 0.05). We determined that in non-anemic subjects, the absorption of iron from GM was comparable to that from FS. Furthermore, we believe that grape molasses is an effective iron source in preventing iron deficiency anemia in infancy.
Morgagni hernisi restosternal yerlesimli nadir gorulen bir diyafragmatik defekttir Bu herniler siklikla asemptomatik olarak seyreder ve tani cogunlukla tesadufen konulur Basta kalp patolojileri olmak uzere bazi konjenital anomaliler ile birlikte gorulebilirler Ancak guvercin gogsu anomalisi ile birlikte gorulmesi cok nadir olarak rapor edilmistir Burada birinde guvercin gogsu anomalisi olan ikisinde herni kesesi icinde karaciger bulunan ve her ucu de transabdominal yaklasimla opere edilerek basarili bir sekilde tedavi edilen semptomatik Morgagni hernili uc vaka sunulmustur Anahtar kelimeler: Morgagni Hernisi Cocukluk Cagi Guvercin Gogsu Anomalisi
The Chédiak-Higashi syndrome (CHS) is a rare autosomal recessive immunodeficiency disorder. Some cases with CHS develop the accelerated phase characterized by pancytopenia, high fever and lymphohistiocytic infiltration of liver, spleen and lymph nodes. The treatment of the accelerated phase of CHS is difficult. We describe a case with CHS in the accelerated phase who had multiple polyposis and pulmonary infiltration that was probably due to involvement of CHS. She was successfully treated with high-dose methylprednîsolone at her first admission. At her second admission, splenectomy was performed to remove hypersplenism, and her clinical, radiological and hema-tological findings improved significantly.
Abstract In this study, CED was immobilized onto c-MWCNT by adsorption. Optimization of immobilization conditions (immobilization buffer's pH and molarity, c-MWCNT amount, and immobilization time) was resulted in 100% immobilization yield and 114.13% activity yield. Further, characterization of FCED and ICED was also studied. After immobilization, the optimum pH shifted from 5.0 to 6.0, while the optimum temperature (55 °C) did not change. Furthermore, kinetic constants for FCED and ICED were also determined using the Lineweaver-Burk plot. The K m value for both FCED and ICED were 54.35 g / L, while V max values for FCED and ICED were 2.77 μmol reducing sugar / L.mg.min and 3.19 μmol reducing sugar / L.mg.min, respectively. Moreover, there was no reduction in the initial activity of ICED after 20 consecutive uses and 30 days of storage at optimal storage conditions. Finally, 17.15% and 17.53% of the dextran in 10% dextran solution (pH 6.0) were converted to reduced sugars (IMOs and Glucose) in 12 hours using FCED and ICED, respectively. Consequently, it can be concluded that ICED obtained in this study can be effectively used for industrial production of IMOs and for hydrolysis of dextran.
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