A prenatally diagnosed patient with full monosomy 21: ultrasound, cytogenetic, clinical, molecular, and necropsy findings

We report on a patient with a full monosomy 21 (FM21) prenatally diagnosed in cord fetal blood, and subsequently confirmed in other tissues. Subtle chromosomal translocations of chromosome 21, were ruled-out by FISH using both painting and 21q telomeric probes. Microsatellites analysis demonstrated the paternal origin of the single chromosome. The propositus showed at 32 weeks of gestation a severe intrauterine growth retardation and microcephaly. He was born with multiple congenital malformations, hypotonia, microcephaly, bilateral microphthalmia (more severe on the left), facial dysmorphism, agenesis of the external auditory meatus, redundant skin in the neck, narrow chest, flat scrotum, cryptorchydism, hypospadias, micropene, camptodactyly, nail hypoplasia, and abnormal palmar and plantar creases. The patient died in the first day of life. At necropsy, micrencephaly, semilobar holoprosencephaly, polimicrogyria, ocular abnormalities, skeletal anomalies, congenital heart disease, and agenesis of right kidney were also observed. To our best knowledge, this case is one of the most completely patient studied with FM21.     

Comparison of Hirschsprung-associated enterocolitis following Soave and Duhamel procedures

Background

Hirschsprung-associated enterocolitis (HAEC) represents the primary cause of high morbidity and mortality in Hirschsprung disease (HSCR) patients. The most common surgical methods for HSCR are the Soave and Duhamel procedures. Therefore, we aimed to compare the HAEC frequency following the Soave and Duhamel procedures.

Significance of confirming Epstein-Barr virus nuclear antibody as tumor marker

BACKGROUNND/AIM: Study of the association between Epstein-Barr virus (EBV) and the tumors of the nasopharynx renders an opportunity to introduce causal treatment Already have been proven the anti-EBV (anti-Epstein-Barr nucleus antigene) antibodies in the blood serum of the patients infected with EBV, while over 91% of the patients with nasopharyngeal malignant tumors also have a detectable anti-EBV marker. The aim of this research was to determine if there were anti-EBV antibodies in the serum of the patients with the already verified nasopharyngeal malignant tumors, and, if there were, to determine the quantitative ratio to the values in the serum of the healthy controls. METHODS: The study involved 74 individuals in the period from 1994-2001 divided into four groups: group A counting 11 patients with undifferentiated carcinome of nasopharyngeal type (UCNT); group B counting 25 patients with UCNT X-ray treated at least three years before the onset of the study; group C including 28 healthy subjecets (blood donors), and the group D with 10 patients with planocellular nasopharyngeal carcinoma. Serologic diagnostics of the patients serum was performed using the techniques of Reedman and Klein for the detection of anti-EBV antibodies in the serum. RESULTS: The presence of the statistically significantly higher values of the mean geometric titer (MGT) of the anti-EBNA antibodies was determined in 36 patients with histologically verified UCNT as compared with the control groups including 10 patients with planocellular carcinomas of the nasopharynx and 28 blood donors. Presented were anti-EBNA titers with 95% confidence interval for any participants according to the Hoo clinical classification of nasopharyngeal tumors, as well as according to the fact if they had been radiotreated within the previous three years. CONCLUSION: The results of this study confirm the conclusions of the recent literature on the possible etiopathogenesis of nasopharyngeal tumors and the use of viral anti-EBNA antibodies as viral markers in the diagnostics of UCNT diseases.     

Calcium-dependent nitric oxide production is involved in the cytoprotective properties of n-acetylcysteine in glycochenodeoxycholic acid-induced cell death in hepatocytes

The intracellular oxidative stress has been involved in bile acid-induced cell death in hepatocytes. Nitric oxide (NO) exerts cytoprotective properties in glycochenodeoxycholic acid (GCDCA)-treated hepatocytes. The study evaluated the involvement of Ca²⁺ on the regulation of NO synthase (NOS)-3 expression during N-acetylcysteine (NAC) cytoprotection against GCDCA-induced cell death in hepatocytes. The regulation of Ca²⁺ pools (EGTA or BAPTA-AM) and NO (l-NAME or NO donor) production was assessed during NAC cytoprotection in GCDCA-treated HepG2 cells. The stimulation of Ca²⁺ entrance was induced by A23187 in HepG2. Cell death, Ca²⁺ mobilization, NOS-1, -2 and -3 expression, AP-1 activation, and NO production were evaluated. GCDCA reduced intracellular Ca²⁺ concentration and NOS-3 expression, and enhanced cell death in HepG2. NO donor prevented, and l-NAME enhanced, GCDCA-induced cell death. The reduction of Ca²⁺ entry by EGTA, but not its release from intracellular stores by BAPTA-AM, enhanced cell death in GCDCA-treated cells. The stimulation of Ca²⁺ entrance by A23187 reduced cell death and enhanced NOS-3 expression in GCDCA-treated HepG2 cells. The cytoprotective properties of NAC were related to the recovery of intracellular Ca²⁺ concentration, NOS-3 expression and NO production induced by GCDCA-treated HepG2 cells. The increase of NO production by Ca²⁺-dependent NOS-3 expression during NAC administration reduces cell death in GCDCA-treated hepatocytes.     

Determination of fluorides in pharmaceutical products for oral hygiene

Fluorides are common ingredients in pharmaceutical products for oral hygiene due to their recognized effect in the prevention of tooth decay. In dental products, fluorides can be added in several different forms, such as sodium fluoride, sodium monofluorophosphate, tin fluoride, or in the form of different amines. This work describes potentiometric determination of fluorides in the samples of toothpastes and mouthwash. The method was optimized for the particular analytical purpose; namely, for the analysis of toothpastes and mouthwash by applying different sample preparation protocols depending on the fluoride source. Good recovery (93–103%) confirmed the correctness of the sample preparation procedures. Calculated limit of detection and limit of quantification for the optimized method were 1 × 10^?3 mg/L and 2.8 × 10^?3 mg/L fluoride, respectively. In the minority of the analyzed samples, calculated contents agreed well with the certified values, whereas the samples of mouthwash demonstrated better agreement.