ABSTRACT
Gaucher disease type 2 is the most progressive and the rarest form of Gaucher disease, defined as the acute neuronopathic type. We presented two GD2 patients who died before three months of age due to severe septicemia, respiratory and liver failure. One was homozygous for a novel GBA variant c.590 T > A (p.197 K), and the second homozygous for the known GBA mutation c.1505G > A (p.R502H). Ichthyosis, hydrops fetalis, apnea, myoclonic seizures, and hepatosplenomegaly occurred in both patients, but hypertrophic cardiomyopathy was observed only in the second and unilateral cataract in the first patient. Due to the disease's early and rapid neurological progression, we did not administer ERT to our patients. It is strongly believed that early diagnosis is essential, and prenatal diagnosis makes genetic counselling possible for future pregnancies.
Subject(s)
Gaucher Disease , Female , Gaucher Disease/complications , Gaucher Disease/diagnosis , Gaucher Disease/genetics , Homozygote , Humans , Hydrops Fetalis/etiology , Hydrops Fetalis/genetics , Mutation/genetics , PregnancyABSTRACT
In this study, we studied global fibrinolytic capacity (GFC) in newborn infants with sepsis. Sixty-one newborn infants, admitted to neonatal intensive care unit at Yuzuncu Yil University Hospital were enrolled in this study. White blood cell count, immature (I) / mature (M) neutrophil ratios, prothrombin time, and d-dimer levels were significantly higher in patient group than those of control group (P < .05). We found GFC to be significantly lower in the patient group compared to the control group (P < .05). The GFC value was negatively correlated to the Tollner scores but this correlation was not statistically significant (r = -.267, P = .095). Our findings showed that GFC decreases in severe neonatal sepsis; therefore, we suggest that GFC may be used for prognosis or in the early prediction of severe sepsis rather than the diagnosis of neonatal sepsis.
Subject(s)
Fibrinolysis/physiology , Sepsis/blood , Blood Coagulation Tests , Case-Control Studies , Female , Humans , Infant, Newborn , Male , Sepsis/diagnosisABSTRACT
Mercury exists as organic inorganic and elementary forms in nature and is one of the most toxic metals that are poisonous for human beings. Mercury is commonly used in many different sectors of industry such as in insects formulas, agriculture products, lamps, batteries, paper, dyes, electrical/electronic devices, jewelry, and in dentistry. In this study, two siblings (one a 7-year-old boy and the other a 13 years old girl) are reported who developed chronic mercury poisoning as a result of long-term contact with batteries. Our aim is to emphasize the importance of mercury poisoning that is extremely rarely seen in childhood.