Hemophilia A and C in a female: The first case report in literature.

INTRODUCTION: One of the relatively rare hemostatic disorders is coagulation factors' deficiency, where a single factor or multiple factors can be deficient. All hereditary coagulation factors' deficiencies are autosomal recessive, so they can manifest in both genders, but Hemophilia A and B are X-linked disorders. Therefore, females can rarely be affected. This paper reports the first case of simultaneous coagulation factors' deficiencies of FVIII and FXI in a female. CASE PRESENTATION: A 17-year-old female came to the office due to prolonged epistaxis, with a history of severe menstrual bleeding and frequent episodes of epistaxis. In her familial history, a brother complained of epistaxis episodes. Bleeding time and prothrombin time were normal but activated partial thromboplastin time was increased. Von Willebrand disease was excluded, and she was diagnosed with hemophilia A and C. DISCUSSION: Females can be affected with X-linked disorders such as hemophilia A and B in some rare cases: a carrier mother and affected father, skewed X chromosome inactivation, Turner syndrome, inhibiting antibodies (acquired hemophilia), or a sporadic mutation on the most activated X chromosome. On the other hand, Hemophilia C is an autosomal recessive disease. Treatment of such cases is a challenge, and the recombinant coagulation factors are the treat-of-choice. CONCLUSION: Although Von Willebrand disease is the most common hereditary bleeding disorder in females, other rare diseases could be suspected such as Hemophilia. X-linked Hemophilia should be kept in mind as a differential diagnosis in any female patient suffering from hemorrhage.

Syrian medical, dental and pharmaceutical publication in the last decade: A bibliometric analysis.

BACKGROUND: Scientific research has an essential role in building up the basics of public health and clinical care. As a developing country, Syria has a limited contribution to scientific research. Besides, the current Syrian crisis has inflicted severe damage to the infrastructure of the country, which, in turn, negatively affected the scientific sphere. This study examines the scientific publishing in Syria from 2011 until 2020. It aims to define the real and deep reasons for the slow-down in publication to get over them, push Syria to keep track of the latest updates, and take its place in scientific research. METHODS: We conducted a bibliometric analysis of articles published in (PubMed and Scopus) Databases from 1/1/2011 until 26/12/2020, using the following search terms (("Syrian Arab Republic") OR (Syria) OR (Syrian)) limiting the search to (Affiliation) fields. RESULTS: Syrian medical, dental and pharmaceutical institutions published 1403 papers from 2011 until 2020. There were only 55 papers in 2011, and a peak with 180 papers in 2018. Besides, publications in the last 4 years were 1.135 times more than publications in the last 6 years. CONCLUSION: We noticed a peak in quantity of Syrian medical, dental and pharmaceutical publications in the last decade. Accordingly, we recommend enhancing research skills, paying more attention to the quality of researches, and holding research workshops and Evidence Based conferences to enhance the scientific endeavor.

Bilateral anophthalmia and intrahepatic biliary atresia, two unusual components of Fraser syndrome: a case report.

BACKGROUND: Fraser syndrome or "cryptophthalmos syndrome" is a rare autosomal recessive disease. It is characterized by a group of congenital malformations such as: crytophthalmos, syndactyly, abnormal genitalia, and malformations of the nose, ears, and larynx. Although cryptophthalmos is considered as a main feature of Fraser syndrome, its absence does not exclude the diagnosis. Clinical diagnosis can be made by Thomas Criteria. Here we present the first documented case of Fraser Syndrome in Aleppo, Syria that is characterized by bilateral anophthalmia and intrahepatic biliary atresia. CASE PRESENTATION: During pregnancy, several ultrasound scans revealed hyperechoic lungs, ascites, and unremarkable right kidney at the 19th-week visit; bilateral syndactyly on both hands and feet at the 32nd-week visit. On the 39th week of gestation, the stillborn was delivered by cesarean section due to cephalopelvic disproportion. Gross examination showed bilateral anophthalmia, bilateral syndactyly on hands and feet, low set ears, and ambiguous genitalia. Microscopic examination of the lung, spleen, liver, ovary, and kidneys revealed abnormalities in these organs. CONCLUSION: The diagnosis of Fraser syndrome can be made prenatally and postnatally; prenatally by ultrasound at 18 weeks of gestation and postnatally by clinical examination using Thomas criteria. Moreover, intrahepatic biliary atresia was not described previously with Fraser syndrome; this recommends a more detailed pathologic study for Fraser syndrome cases.