Background: Telomere length quantification had evolutionary been used in assessment and linking the phenotype and severity of many diseases, among these progeroid syndromes. Aim: This study aims to measure the individual telomere length in premature aging syndromes through establishment of the new technique of Quantitative Fluorescence In Situ Hybridization (Q-FISH) and the use of telomere length as an early diagnostic tool, prognostic factor and follow up tool for the premature aging syndromes patients. Patients and methods: This study was conducted on 27 patients and 10 normal controls matching in age and sex, patients were grouped into Fanconi anemia (FA) and non-Fanconi anemia groups. All patients and normal controls were subjected to thorough clinical assessment and blood sample were taken for Q-FISH. Results: Non-FA group had shown shorter telomere length than that of FA group. Patients having high number of clinical abnormalities had shown shorter telomere length, while patients with better hemoglobin and higher platelet levels had shown longer telomeres. Conclusion: Q-FISH technique was now well-established in our cytogenetics department as a diagnostic method for the measurement of telomere length, and it was used in this study to assess the telomere length in all patients’ and control groups. Q-FISH as a powerful tool for measurement and assessment of telomere length is recommended to be done in all patients suffering from premature aging syndromes and progeroid features, and could be considered as a prognostic marker for these syndromes.
Trisomy 4p is a rare constitutional chromosomal rearrangement that leads to severe intellectual disability, characteristic facial features including a characteristic nose with a flat bridge and a bulbous tip (boxer nose), and extremities abnormalities. Pure trisomy 4p syndrome is due to duplication of the entire p arm of chromosome 4. Genotype-phenotype correlations in pure trisomy 4p cases are not well understood. Only five cases of pure trisomy 4p was previously reported in form of iso 4p, derivative formation and marker formation. Here, we present the clinical and laboratory findings of fifth case of pure trisomy 4p with interesting MRI manifestations. Our patient's karyotype was defined as 47,XY,+(4)(pter→q11) mat that was inherited from his mother who had balanced translocation defined as 46, XX, t(4;12)(q12;q24.33). Our case is the sixth case of pure trisomy 4p and the 2nd report of pure trisomy 4p due to the presence of marker. Our findings emphasize and strengthen the clinical features of patients with pure trisomy 4p. More accurate clinical reports of patients with pure trisomy 4p is needed for more elucidation of the pathogenesis of pure trisomy 4p syndrome.
Thyroid disorders are among the most common endocrine disorders affecting pregnant women.Thyroid autoimmunity has been associated with poor pregnancy outcomes.Thyroid Peroxidase antibodies being the most common of thyroid antibodies and it can be considered as a surrogate marker for thyroid related adverse pregnancy outcomes.The present study was conducted to further elucidate the association between these antibodies and adverse pregnancy outcomes.A case control study including 150 randomly selected participant was carried out at AL-Khansaa Teaching Hospital in Mosul, Iraq.over the period of three months.All participants enrolled in the study were screened for Thyroid Function Tests TFTs including Thyroid Stimulating Hormone TSH, Free thyroid hormones (FT3 and FT4) as well as Anti-Thyroid Peroxidase antibodies ATPO.Pregnant women were then classified depending on their Anti-Thyroid Peroxidase antibodies test results into two groups (positive and negative) groups.All women were followed till delivery to record their pregnancy outcomes.Our results showed that 10% of the screened pregnant women showed positive anti-Thyroid peroxidase antibodies.These women reported a higher incidence of cesarean section and preterm deliveries when compared to negative anti-Thyroid peroxidase antibodies control group.So, a conclusion was drawn to recommend anti-Thyroid peroxidase antibodies as screening test during pregnancy especially those with bad obstetric history or history of thyroid disorders.
