Introduction: Congenital anomalies are the most common cause of disability in developed and developing countries. Costs of hospitalization and treatment of congenital anomalies pose a significant burden to families and societies. The objective of the present study was to determine the associated risk factors and prevalence of congenital malformations in Ardabil, Iran. Methods: This cross-secti...

Introduction: Hearing impairment is the most frequent sensorial congenital defect in newborns and has increased to 2–4 cases per 1,000 live births. Sensory-neural hearing loss (SNHL) accounts for more than 90% of all hearing loss. This disorder is associated with other congenital disorders such as renal, skeletal, ocular, and cardiac disorders. Given that congenital heart diseases are life-thre...

BACKGROUND Congenital cytomegalovirus (CMV) infection is the leading infectious cause of neurologic disabilities and sensorineural hearing loss in children. Sensorineural hearing loss prevalence in CMV suggests a viral tropism for the inner ear. Vestibular disorders induced by CMV infection are underestimated. This is the largest and most thorough study to assess the incidence of vestibular dis...

Background: Intrauterine infections (TORCH) lead to the involvement of various organs of the body of the fetus, including the eye. The aim of this study was to determine the frequency and clinical response of eye lesions to specific drugs, in infants with confirmed TORCH induced ocular lesions. Methods: This historical cohort study from 2011 to 2017, had done in Pediatrics and Ophthalmology De...

In the 1960s Guthrie conceived idea of preventing congenital disease using dried blood spot samples on filter paper to detect them through biochemical tests and then be able treat environmental factors in time avoid devastating effect diseases. Uruguay started 1994 with detection hypothyroidism umbilical cord blood. 2007 it was extended Phenylketonuria Congenital Adrenal Hyperplasia, starting s...

The development of inhibitory 'allo' antibodies to a deficient coagulation factor is arguably now the most severe and important complication of clotting factor concentrate exposure in haemophilia and other congenital coagulation disorders. Furthermore, development of an inhibitor to the factor VIII or factor IX transgene product remains a significant concern in gene therapy protocols for haemop...

Hereditary fibrinogen abnormalities comprise two classes of plasma fibrinogen defects: Type I, afibrinogenemia or hypofibrinogenemia, which has absent or low plasma fibrinogen antigen levels (quantitative fibrinogen deficiencies), and Type II, dysfibrinogenemia or hypodysfibrinogenemia, which shows normal or reduced antigen levels associated with disproportionately low functional activity (qual...

The rates of congenital and genetic disorders in low and middle income countries are similar or might be higher than in high income countries due to a multitude of risk factors and the dearth of community genetic services. To direct effective preventive, diagnostic and counseling services, collecting data on the incidence and prevalence of various congenital and genetic disorders and their risk...

Result: Thirty-one patients (48.4%) were diagnosed with hemophilia A,eighteen patients (28.1%) had von Willebrand disease, eleven patients (17.9%) had Hemophilia B and four patients had other factor deficiencies. Elevenpatients with Hemophilia A and one patient with Hemophilia B had severe disease. The prevalence of hepatitis C virus infection was 5%. All patients were negative for hepatitis B ...