Noninvasive prenatal diagnosis of congenital factor XIII deficiency in Iran.

Congenital factor (F) XIII deficiency is a rare coagulation factor deficiency that is inherited in an autosomal recessive manner. FXIII deficiency presents various clinical manifestations, such as intracranial hemorrhage (ICH), which is the most common cause of morbidity and mortality. As ICH can occur in the neonatal period, prenatal diagnosis (PND) is an effective way to reduce neonatal ICH and its associated fatal consequences. In this study, we investigated a noninvasive prenatal diagnosis (NIPD) method, cell-free fetal DNA (cffDNA), for PND in FXIII deficiency. This study was conducted on seven pregnant women in the first trimester. After extraction of cffDNA from maternal plasma, PCR-restriction fragment length polymorphism (PCR-RFLP) was performed to find the underlying F13A gene mutations previously identified in the family members. PCR-RFLP was also performed on postnatal DNA samples. Sanger sequencing was performed to confirm the results. Four cases were heterozygous for F13A gene mutations, whereas three were unaffected. PCR- RFLP results for cffDNA and postnatal DNA samples were identical, and Sanger sequencing confirmed the results. cffDNA is a noninvasive and effective method for PND in congenital FXIII deficiency.

Effect of flaxseed consumption on central obesity, serum lipids, and adiponectin level in overweight or obese women: A randomised controlled clinical trial.

BACKGROUND: Flaxseed may be beneficial for the management of obesity due to its high content of alpha-linolenic acid, fibre, and lignans. OBJECTIVE: We aim to evaluate the effect of flaxseed consumption on serum lipids, adiponectin, leptin, and anthropometric indices in overweight or obese women. METHODS: This randomised controlled clinical trial involved 60 overweight or obese women. Participants were randomly allocated into two groups: (a) a balanced diet plus 30 g/day milled flaxseed (as treatment group) and (b) a balanced diet plus 30 g/day milled rice (as control group). Anthropometric indices, serum lipids, leptin, and adiponectin level were measured at baseline and at the end of intervention after 12 weeks. RESULTS: After 12 weeks of intervention, there was significantly higher reduction rate in waist circumference (WC) and waist-to-hip ratio (WHR) (both P < .05) in the flaxseed-consuming group compared with the control group. Moreover, adiponectin level was significantly increased from (12.11 ± 7.1) to (17.15 ± 6.1) in the flaxseed-consuming group compared with the control group from (12.48 ± 4.7) to (12.01 ± 5.8) (P = .002). However, no significant difference was observed in serum lipid level in the study groups before and after the intervention (all P > .05). CONCLUSION: Flaxseed consumption may improve adiposity markers, such as adiponectin level. Thus, flaxseed consumption could be an adjunctive therapy to attenuate central obesity. Serum lipid profile has not changed meaningfully after flaxseed consumption.

The Performance of Two Rapid Antigen Tests During Population-Level Screening for SARS-CoV-2 Infection.

Background: SARS-CoV-2 antigen assays offer a rapid mean to diagnose and isolate infected individuals. However, their utility in population-level screening is unknown. Objectives: The performance of two antigen tests in detecting SARS-CoV-2 was assessed among individuals randomly selected in the community. Study Design: A prospective study that performed head-to-head comparison of two SARS-CoV-2 antigen assays. Individuals were recruited during community SARS-CoV-2 screening over 10 working days. Demographic and clinical data were collected. Standard Q COVID-19 Ag test, a point-of-care chromatographic assay, was conducted immediately, and then the sample was transported to the virology laboratory to perform PCR and the LIAISON SARS-CoV-2 Ag chemiluminesence immunoassay. Results: respiratory samples from 991 individuals were collected, and 62 were positive by PCR. Inconclusive PCR results were observed in 19 samples and were excluded. The median age of participants was 40.2 years (IQR 32.3-47.8), and 932 (94%) were males. Most (77.4%) of infections were asymptomatic. The sensitivity and the specificity of the LIAISON assay were 43.3% (95%CI 30.6-56.8) and 99.9% (95%CI 99.3-100). The Standard Q assay had lower sensitivity (30.6%, 95%CI 19.6-43.7) but similar specificity (98.8%, 95%CI, 97.8-99.4). Similarly, the LIAISON assay had higher positive predictive value (96.3%, 95%CI 81-99.9% vs. 63.3%, 95%CI, 43.9-80.1%). Both assays performed better in symptomatic patients and among samples with a low-cycle threshold (Ct < 25). Conclusion: In our setting of random community surveillance, rapid antigen testing of nasopharyngeal swabs by either LIAISON SARS-CoV-2 Ag (DiaSorin) or Standard Q COVID-19 Ag (SD Biosensor) was less sensitive to detecting SARS-CoV-2 than the TaqPath COVID-19 RT-PCR.

Hemophilia A in Afghanistan, the first report.

: Hemophilia A is the most severe congenital bleeding disorder with estimated incidence of 1 per 5000 live male birth. Afghanistan located within south Asia and central Asia have a considerable number of patients with bleeding disorders that is accompanied by low government resources and limited diagnostic facilities. This study aimed to evaluate different aspects of hemophilia A in Afghanistan for the first time. This study was conducted on 167 patients with hemophilia A who were referred to hemophilia center of Kabul city. The diagnosis of the disease was performed based on standard questionnaire, evaluation of clinical manifestations and family history as well as laboratory assays. Diagnose of hemophilia A was confirmed by coagulation factor VIII (C: FVIII) assay. The mean age and mean age at diagnosis were 13.7 ±â€Š2.4 and 1.4 ±â€Š0.7 years, respectively. The mean FVIII level was 0.7 IU/dl. The most common clinical manifestation was hemarthrosis, which was detected in 80% of patients. According to geographical distribution, 42% of patients are residents of Kabul Province. About 41% of patients were Tajik, whereas 37% were Pashtun. In Afghanistan, as a country with low number of diagnosed patients with hemophilia A because of limited diagnostic and treatment facilities, high amount of investments are required in order to improve the quality and quantity of hemophilic patients.

Intracranial hemorrhage in congenital bleeding disorders.

: Intracranial hemorrhage (ICH), as a life-threatening bleeding among all kinds of congenital bleeding disorders (CBDs), is a rare manifestation except in factor XIII (FXIII) deficiency, which is accompanied by ICH, early in life, in about one-third of patients. Most inherited platelet function disorders (IPFDs) are mild to moderate bleeding disorders that can never experience a severe bleeding as in ICH; however, Glanzmann's thrombasthenia, a common and severe inherited platelet function disorder, can lead to ICH and occasional death. This bleeding feature can also be observed in grey platelet syndrome, though less frequently than in Glanzmann's thrombasthenia. In hemophilia, intracerebral hemorrhage is affected by various risk factors one of which is the severity of the disease. The precise prevalence of ICH in these patients is not clear but an estimated incidence of 3.5-4% among newborns with hemophilia is largely ascertained. Although ICH is a rare phenomenon in CBDs, it can be experienced by every patient with severe hemophilia A and B, FXIII deficiency (FXIIID), FVIID, FXD, FVD, FIID, and afibrinogenemia. Upon observing the general signs and symptoms of ICH such as vomiting, seizure, unconsciousness, and headache, appropriate replacement therapies and cranial ultrasound scans must be done to decrease ICH-related morbidity and mortality.