Inherited neurological disorders are reasonably common in pediatric and adult neurology practices. Genetic testing for such disorders does carry promise, but is fraught with challenges and difficulties. This study was conducted to assess the utility of genetic testing in a cohort of 200 patients who had neurological disorders, suspected to be of inherited origin, and for whom molecular genetic testing was requested during the period 2014 to 2019. Two hundred and eight tests were ordered. The characteristics of that practice were reviewed. Further, we summarized the challenges and highlighted the concerns that were raised. The medical records of 200 patients were retrieved and reviewed to assess the demographic characteristics of the cohort, their clinical presentation, genetic test requested for each, and the interpretation of the test results.
Background: Studies demonstrated that there are several germline mutations that lead to a familial predisposition for acute myeloid leukemia and Myelodysplastic syndrome. According to the American Society of Clinical Oncology, the minimum cancer family history was defined as including first- and second-degree family history, type of primary cancer, and age at diagnosis. The current study aimed to estimate the frequency of positive family history for hematologic and solid malignancies in patients with Myeloid Neoplasms / Aplastic anemia. Patients and Methods: A cross-section study was carried out at the Center of Blood Diseases, Medical City Campus during the period from March-December 2020. A purposeful sample of all adult patients with Myeloid Neoplasms [Acute Myeloid Leukemia, Myelodysplastic Syndrome, Chronic Myeloid Leukemia, and Aplastic Anemia] was included in the study. A data collection form was prepared, based on the Hereditary Hematopoietic Malignancies Screening form adopted by the University of Chicago, and modified by the researchers; The data were collected by direct interview with the patients. Patients with hematologic malignancy and one or more first-degree relatives, or ≥2 second-degree relatives, with hematologic malignancies and individuals with Myelodysplastic Syndrome or Acute Myeloid Leukemia and two first or second-degree relatives with a diagnosis of solid tumor malignancy, were considered potential carriers of such genetic predisposition. Results: A total of 153 patients were included; males were nearly equal to females with a male to female ratio of nearly 1:1. Acute Myeloid Leukemia was found in 57.5%, Aplastic Anemia was found in 19%, Chronic Myeloid Leukemia in 17% and only four patients (6.5%) were known cases of Myelodysplastic Syndrome. Nine patients (5.9%) reported a family history of hematological malignancies, 29 (19.0%) reported a family history of solid malignancies and only one patient reported a family history of both hematological and solid malignancies. Regarding the official medical reports of the patients, no patient had been interviewed properly about this crucial point. Conclusion: Positive family history for hematological and solid malignancies in Iraqi patients with myeloid neoplasms is prevalent. Our current approach to this critical issue in Iraq needs to be re-considered.
Background: Complications during pregnancy and childbirth are a leading cause of death and disability among women in developing countries. The target for mortality reduction is important, yet accurate data of maternal mortality remains challenging as reporting errors including misclassification of cause of death continue to pose a major challenge. Objectives: This study aimed to identify if there is any discrepancy between clinical and autopsy causes of maternal death. Methods: A review of all maternal deaths records that had two sources for registered cause of death; one made by the obstetrician depending on clinical setting and the other by forensic medicine after autopsy and search for any discrepancies between the two sources. Results: A total of 468 maternal death reports were reviewed; the discrepancies were more with the second commonest cause of maternal death in Iraq which is pulmonary embolism. The review revealed that 10.1% of those clinically died because of pulmonary embolism turned to be dead from other causes; 8.7% of them from postpartum hemorrhage, and the rest from sepsis and other indirect causes. Conclusion: There is a substantial discrepancy between clinical and autopsy causes of maternal death which necessitates asking for autopsy in cases of maternal mortality of uncertain cause. The use of maternal death review within 3–6 weeks of death as a tool to identify causes of maternal deaths is recommended.
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