Background: Schizophrenia (SCZ) is still a challenging, refractory, and severe disorder. It is not a fully understood disease with genetic and epigenetic susceptibility and about 80% substantial heritability. The CUB and Sushi multiple domains 1 (CSMD1) gene is implicated in neurogenesis, memory, immunity, neuropsychology, and monoamine metabolism. Thus, it is one of the powerful genes involved in the pathogenesis of SCZ. Purpose: To evaluate the possible role of the CSMD1 gene’s mRNA expression and its serum protein as markers for the early diagnosis of the first-episode SCZ in familial high-risk (FHR) Egyptian children and young adults. Subjects and methods: This case–control study included 80 first-episode drug-naïve SCZ patients from FHR Egyptian children and young adults and 80 healthy participants, as controls, from the FHR-susceptible children and young adults but did not develop SCZ. In this study, the CSMD1 gene’s mRNA expression and CSMD1 serum levels were measured in the peripheral blood, and these levels were correlated with the lipid profile of the study populations. Results: The CSMD1 gene’s mRNA expression and its’ protein levels were significantly decreased in the SCZ patients compared to controls. The receiver operating characteristic (ROC) curve analysis succeeded in distinguishing SCZ patients from those not having SCZ using cutoff points of ≤0.711 and ≤4.83 ng/mL for the CSMD1 gene’s mRNA expression and serum protein level, respectively. At these levels, the diagnostic sensitivities were 93.75 and 91.25%; specificity was 92.5%; positive predictive value (PPV) were 92.6 and 92.4%; and negative predictive values (NPVs) were 93.7 and 91.4%, respectively. Also, the ROC curve analysis succeeded in discriminating those with suicidal tendencies. Conclusion: CSMD1 gene’s mRNA expression might be a reliable and early diagnostic predictor of first-episode SCZ in the FHR Egyptian children and young adults.

Objective: To assess the oxidant and antioxidant status in neonates with and without hyperbilirubinemia and their association with early manifestations of acute bilirubin encephalopathy (ABE), in addition to eliciting the possible oxidative effects of phototherapy. Methods: This prospective observational study was conducted with 104 full-term newborns at Menoufia University Hospitals from January 2020 to January 2021 to help resolve the debate regarding whether bilirubin is an antioxidant. The cases group (Group I) included 52 full-term newborns (37–40 weeks) with hyperbilirubinemia during the neonatal period, while the control group (Group II) included 52 healthy, full-term age and sex-matched newborns who did not have hyperbilirubinemia. The cases group was further subdivided into Group Ia (n = 12), which included newborns who presented with neurological manifestations suggesting early ABE, and Group Ib (n = 40), which included newborns with no signs suggestive of ABE. All newborns were subjected to clinical and neurological examinations, as well as laboratory investigations. Results: Comparing the specific biological markers between the Group 1 subgroups before phototherapy, the mean plasma levels of prostaglandin-E_m, prostaglandin E₂, and TSB were significantly higher in Subgroup I(a) (all p < 0.05). After phototherapy, Subgroup I(a) patients had significantly higher levels of prostaglandin-E_m, DSB, and TSB (p < 0.05). The biological marker levels improved after phototherapy in terms of TAC (0.811 vs. 0.903), MDA (8.18 vs. 5.13), prostaglandin-E_m (37.47 vs. 27.23), prostaglandin E₂ (81.09 vs. 31.49), DSB (1.21 vs. 0.55), and TSB (16.63 vs. 8.26; p-value < 0.05). Conclusion: Our study showed that an elevated level of serum bilirubin increases oxidative stress and decreases antioxidant capacity. The reduction in bilirubin levels by phototherapy is associated with a decrease in oxidative stress markers (MDA, PGE_m, and PGE₂) and an upsurge in TAC, highlighting the absence of oxidative stress effects arising from phototherapy. Neonates with neurological manifestations suggesting ABE had higher levels of oxidative stress markers and lower levels of total antioxidant capacity than those without.

Aim: This study aimed to assess neonatal sensorineural hearing loss (SNHL) in newborns in Menoufia Governorate, Egypt, who underwent an extended hearing loss screening program, focusing on prevalence, types, and genetic analysis. Patients and methods: This study was conducted on 3500 Egyptian newborn infants who came to the family health care units in Menoufia Governorate for routine neonatal hearing screening tests, including 1st and 2nd otoacoustic emissions (OAE). A diagnostic auditory brainstem response (ABR) test was performed on the neonates who failed to pass the 2nd OAE screening test with a REFER result. Whole exome sequencing (WES) was performed on the neonates with sensorineural hearing loss (SNHL). Results: The referral rate after the first time OAE was 5.1%, while after the second time, it was 0.4%. Most referred cases were bilaterally affected in both tests. Due to otitis media with effusion, conductive hearing loss was detected in 6 neonates (0.17%). Sensorineural hearing loss was identified in two newborns (0.05%). WES revealed a homozygous pathogenic variant in the SLC26A4 gene (c.1198delT: p.Cys400ValfsTer32) in one neonate and a homozygous variant of uncertain significance in the MYO5C gene (c.1322C>T: p.Thr441Ile) in the other one. Conclusion: Sensorineural hearing loss constitutes 0.05% of the Egyptian neonates in Menoufia Governorate. Genetic variants in the SLC26A4 and MYO5C genes represent the possible genetic causes of SNHL in the two affected newborns.