Incorporation of second‐tier tests and secondary biomarkers to improve positive predictive value (PPV) rate in newborn metabolic screening program

BackgroundNowadays, neonatal screening has become an essential part of routine newborn care in the world. This is a non‐invasive evaluation that evaluated inborn errors of metabolisms (IEMs) using tandem mass spectrometry (LC‐MS/MS) for the evaluation of the baby''s risk of certain metabolic disorders.MethodsThis retrospective study was conducted on 39987 Iranian newborns who were referred to Nilou Medical Laboratory, Tehran, Iran, for newborn screening programs of IEMs. We incorporated second‐tier tests and secondary biomarkers to improve positive predictive value (PPV).ResultsStatistical data were recorded via call interviewing in 6–8 months after their screening tests. The overall prevalence of IEM was 1:975. The mean age of all participants was 3.9 ± 1.1 days; 5.1% of participants were over 13 days and 7.7% were preterm or underweight. A total of 11384 (29.4%) of the cases were born in a consanguineous family. The type of delivery was the cesarean section in 8332 (51.3%) valid cases. The neonatal screening results had an overall negative predictive value (NPV) of 100% and the overall PPV of 40.2%. The false‐positive rate was 0.15%.ConclusionThis study showed a high incidence of metabolic disease due to a high rate of consanguineous marriages in Iran and indicated that incorporation of second‐tier tests and secondary biomarkers improves PPV of neonatal screening programs.     

Bilateral proximal deep vein thrombosis and COVID‐19 in a patient with absence of inferior vena cava: A case report and review of literature

Bilateral proximal deep vein thrombosis (DVT) in the lower extremities of young patients should raise suspicion over pro‐thrombotic conditions and venous anatomical abnormalities, even in the presence of other precipitating factors, such as viral infection. The authors present a 33‐year‐old man with bilateral DVT and absence of inferior vena cava (AIVC), who also had concurrent COVID‐19, and discuss the management of this patient.     

Expression analysis of mTOR-associated lncRNAs in multiple sclerosis

Metabolic Brain Disease - mTOR has been shown to be involved in the regulation of immune responses and differentiation of immune cells. This protein is a candidate molecule for unraveling the...     

Review of evidence for the use of steroids in orthognathic surgery

Primarily, steroids are used routinely in orthognathic surgery to reduce swelling, but there is no nationally accepted regimen for the use of glucocorticoids in the UK. This article examines the evidence base for the use of steroids to reduce swelling, nausea, vomiting, and pain, and looks at evidence of the ratio of risks:benefits in orthognathic surgery and related publications. Evidence supports their use preoperatively, but the timing of this and their postoperative use may be contentious. The current regimens are associated with little morbidity and low cost. A well designed multi-centre study whose design would allow objective measures of swelling is required to resolve the areas of debate.     

The rs594445 in MOCOS gene is associated with risk of autism spectrum disorder

Metabolic Brain Disease - Molybdenum cofactor sulfurase (MOCOS) gene encodes an enzyme which is involved in purine metabolism. Recent experiments have shown down-regulation of MOCOS in adult nasal...     

Association Analysis Between the rs1899663 Polymorphism of HOTAIR and Risk of Psychiatric Conditions in an Iranian Population

Journal of Molecular Neuroscience - Recent studies have shown contribution of long non-coding RNAs (lncRNAs) in the pathogenesis of a number of psychiatric disorders. In the current study, we...     

Bilateral atonic pupils after cataract surgery.

This case report describes the unusual finding of bilateral atonic pupils after cataract extraction by phacoemulsification in an 84-year-old woman with multiple cardiopulmonary risk factors.     

Multifocal pigmented villonodular synovitis in a child

Pigmented villonodular synovitis is a rare benign disorder and usually affects young and middle-aged adults. It occurs either as a localised pedunculated form or more common diffuse form, and is almost always unifocal. Only few cases of multifocal involvement have been reported, all of them in children. Multifocal pigmented villonodular synovitis occurring in a 5-year-old girl is presented. Both her knees and left elbow were involved. All three lesions were of localised pedunculated type and were completely excised. She is believed to be one of the youngest patients reported.     

Post-thoracotomy pain and pulmonary function--comparison of intermittent intercostal bupivacaine vs intravenous pethidine

OBJECTIVE AND METHODS: In a prospective, observer-blind study, 50 patients scheduled for posterolateral thoracotomy were investigated to compare the effects of intermittent intercostal extrapleural bupivacaine (n = 25) and intravenous pethidine (n = 25) on post-thoracotomy pain and pulmonary function. The severity of chest pain (objectified by the use 5-point scale of Prince Henry) and changes in spirometric values [forced vital capacity (FVC), forced expired volume in 1 s (FEV1) and FEV1/FVC] were monitored during the first three postoperative days. Because intravenous pethidine was used to supplement pain relief in the patients who received intercostal analgesia, total pethidine used was compared to that administered to patients in the intravenous pethidine group. RESULTS: There were no statistical significant differences regarding patient demographics in both groups. No complications occurred. There was no significant difference between mean pain scores in the first postoperative day, but in the second and third postoperative days and also in the whole first 72 post-operative hours, pain scores were significantly higher in the intravenous group than the intercostal group. The postoperative decrease in FVC and FEV1 was significantly less with intercostal bupivacaine compared with the intravenous pethidine. There was no significant intergroup difference in the post- to pre-operative FEV1/FVC ratio. The total amount of the pethidine received by the patients was significantly higher in the intravenous group than the intercostal group. CONCLUSION: Intermittent intercostal nerve block with bupivacaine appears to be a promising, safe and reliable technique in the management of post-thoracotomy pain. Use of intercostal bupivacaine could significantly reduce or even eliminate the postoperative need for systemic narcotics.