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Background This study aimed to investigate the relationship between acute kidney injury (AKI) in the first 2 weeks of life and brain injury on term-equivalent age magnetic resonance imaging in very preterm infants. Methods We included 116 infants with a birth weight of < 1500 g who were born at the King Saud Medical City at [less than or equal to] 32 gestational weeks. They were admitted to the neonatal intensive care unit and underwent term-equivalent age and pre-discharge brain magnetic resonance imaging. A negative binomial with generalized linear models and a robust variance estimator (Huber-White) was applied for univariate relative risk analysis. The Kidokoro score was then used to determine the effect of AKI on brain morphology and growth at term-equivalent age. Results Sixty-eight (64.2%) infants had developed an AKI in the first 2 weeks of life. AKI was significantly associated with cerebellum signal abnormalities, cerebellar volume reduction, and a high total cerebellum score (P = 0.04, P < 0.001, P < 0.001, respectively). Conclusions AKI in the first 2 weeks of life is associated with brain insult, especially in the cerebellum. More well-designed studies are required to investigate the association and impact of AKI on the central nervous system. Graphical abstract A higher resolution version of the Graphical abstract is available as Supplementary information, Author(s): Mountasser M. Al-Mouqdad [sup.1] , Dima Z. Jamjoom [sup.2] , Ayman T. Abdalgader [sup.1] , Waleed S. Ameen [sup.1] , Thanaa M. Khalil [sup.3] , Yasmeen S. Asfour [sup.4] [...]

Central hypothyroidism might be another clinical sign of SSADH deficiency which prompts urinary organic acid screening for GHB in central hypothyroidism patients. Studies on GABA and thyroid hormone interaction might be a concept of a new therapy. [ABSTRACT FROM AUTHOR]

Pyridoxamine‐5′‐phosphate oxidase (PNPO) deficiency is an autosomal recessive pyridoxal 5′‐phosphate (PLP)‐vitamin‐responsive epileptic encephalopathy. The emerging feature of PNPO deficiency is the occurrence of refractory seizures in the first year of life. Pre‐maturity and fetal distress, combined with neonatal seizures, are other associated key characteristics. The phenotype results from a dependency of PLP which regulates several enzymes in the body. We present the phenotypic and genotypic spectrum of (PNPO) deficiency based on a literature review (2002‐2020) of reports (n = 33) of patients with confirmed PNPO deficiency (n = 87). All patients who received PLP (n = 36) showed a clinical response, with a complete dramatic PLP response with seizure cessation observed in 61% of patients. In spite of effective seizure control with PLP, approximately 56% of patients affected with PLP‐dependent epilepsy suffer developmental delay/intellectual disability. There is no diagnostic biomarker, and molecular testing required for diagnosis. However, we noted that cerebrospinal fluid (CSF) PLP was low in 81%, CSF glycine was high in 80% and urinary vanillactic acid was high in 91% of the cases. We observed only a weak correlation between the severity of PNPO protein disruption and disease outcomes, indicating the importance of other factors, including seizure onset and time of therapy initiation. We found that pre‐maturity, the delay in initiation of PLP therapy and early onset of seizures correlate with a poor neurocognitive outcome. Given the amenability of PNPO to PLP therapy for seizure control, early diagnosis is essential. [ABSTRACT FROM AUTHOR]

Background/Aim: Some reports in the literature have linked interferon therapy for the treatment of hepatitis C (HCV) with hearing loss. The aim of this study has been to examine the effects of interferon therapy on hearing of patients treated for HCV. Patients and Methods: Patients were recruited according to preset inclusion criteria from two centers. All patients received standard dose pegylated interferon (PEG-IFN α-2b or α-2a) plus ribavirin (RBV). All patients had pure-tone audiometry (PTA), tympanogram and distortion-product otoacoustic emission (DPOAE) before treatment, three months after initiation of treatment, and three months after completion of treatment. Results: Twenty one patients were prospectively recruited. The mean age was 45.7 years. The male to female ratio was 1.1:1. The mean PTA was 15.9 ± 5.3 before treatment, 17.4 ± 6.1 during treatment and 16.5 ± 5.1 after treatment. The differences between pre and mid, pre and post, as well as mid and post were not significantly different (P>0.05) in all audiological assessments. Conclusions: Our results indicate that PEG-IFN\RBV therapy does not have any impact on the hearing thresholds of patients with HCV. [ABSTRACT FROM AUTHOR]