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Biomedical subjects

Tony G Zreik

Publications and source records attributed to Tony G Zreik.

6 recordsLinked to original sources

Filariasis infection is a probable cause of implantation failure in in vitro fertilization cycles.

OBJECTIVE: To describe a parasitic infection that probably affected the implantation of good-quality embryos in an in vitro fertilization (IVF) cycle. DESIGN: Case report. SETTING: Tertiary care center in a university hospital. PATIENT(S): A 36-year-old Caucasian female with primary unexplained infertility. The patient underwent two cycles of IVF with good-quality embryos transferred; however, no pregnancy ensued despite adequate luteal support. INTERVENTION(S): In vitro fertilization cycles, CBC, blood smear, evaluation for eosinophilia including serological evaluation for parasitic infections. MAIN OUTCOME MEASURE(S): Pregnancy. RESULT(S): Following treatment for filariasis, a repeat IVF cycle using the same stimulation protocol yielded a full-term pregnancy. CONCLUSION(S): This case is of particular importance because, to our knowledge, it is the first to describe a parasitic infection that probably affected the implantation of good-quality embryos in IVF cycles.

Adult↗

The consanguinity effect on QF-PCR diagnosis of autosomal anomalies.

OBJECTIVES: Quantitative Fluorescent PCR (QF-PCR) is a simpler and faster method of detecting common chromosomal abnormalities when compared to cytogenetic analysis. The aim of our study is to investigate the applicability of this methodology in a population where consanguineous marriages are common and to estimate the heterozygous frequency of the PCR markers used. METHODS: Four hundred and twenty-three DNA samples were extracted from uncultured amniocytes and amplified with 18 short tandem repeats (STR) markers specific to chromosomes 13, 18 and 21. Amplification products were analyzed using the GeneScan software. RESULTS: QF-PCR correctly identified all the numerical abnormalities related to chromosomes 13, 18 and 21. A total of 24 autosomal trisomies (5.7%) were detected. The markers D21S1432 and D21S11 were the most consistent in providing unequivocal positive results for chromosome 21 and the heterozygosity percentages of the markers used were lower than the values reported in Western populations. CONCLUSION: QF-PCR is reliable for the prenatal diagnosis of numerical anomalies of the chromosomes 13, 18 and 21 in our study population. The absence of STR heterozygosity data from Lebanon and surrounding countries makes our study very useful for the development of a reliable QF-PCR trisomy detection test.

Adult↗

Patients with early onset of type 1 diabetes have significantly higher GG genotype at position 49 of the CTLA4 gene.

Type 1 diabetes (T1D) is a complex autoimmune disease. Several genetic loci have been implicated in the susceptibility to this illness. Evaluated was the role of the CTLA4 exon 1 A49G polymorphism and its role as a risk factor for T1D in our population. DNA from 190 patients with T1D and their families and 96 control individuals were genotyped for CTLA4 exon 1 polymorphism and human leukocyte antigen (HLA)-DQB1*0201 and *0302 haplotypes by polymerase chain reaction (PCR) amplification-restriction enzyme analysis and PCR amplification that used sequence-specific primers, respectively. Patients were nonobese and <26 years old. The CTLA4 G allele was found to be more frequently present in patients with T1D (32.4%) as compared with its frequency in control individuals (24.5%). The GG genotype was also significantly higher among patients (12.6%) than in controls (4.2%). chi(2) analysis and family-based association studies were performed and suggested the association of CTLA4 exon 1 G polymorphism with T1D (p = 0.0229). Furthermore, in HLA-DQB1*0201-positive patients with T1D, the GG and AA genotypes were higher and lower, respectively, than those found in control individuals. This study suggests that CTLA4 is a candidate susceptibility gene for T1D.

Adolescent↗

Amniotic fluid embolus: can we affect the outcome?

PURPOSE OF REVIEW: Amniotic fluid embolism is a rare catastrophe unique to pregnancy. Its mortality rate remains high despite efforts at prompt and aggressive management protocols, highlighting the need to maintain a high index of suspicion. RECENT FINDINGS: The intrusion of amniotic fluid into the maternal bloodstream may lead in certain women to a complex series of physiological reactions mimicking those seen in human anaphylaxis or sepsis, negating the purely embolic phenomenon theory as previously understood. The clinical picture is the sudden onset of cardiovascular collapse, cyanosis, haemorrhage or disseminated intravascular coagulopathy, during or soon after delivery. SUMMARY: The mainstay of a successful outcome remains the identification of high-risk patients, as well as early clinical diagnosis and management.

Journal Article↗