Noha Rabie Bayomy

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.

Background: This study aimed to change the current concept of diabetic macular edema (DME) management through (1) early categorization of our DME patients into either responders or non-responders after the first intravitreal Ranibizumab (IVR) injection, and (2) finding a suitable clinical–biochemical diagnostic panel to identify the possible cause(s) of non-response in each non-responder and changing the treatment plan in each particular patient accordingly. Patients and methods: Our study included 64 eyes of 40 patients with DME (Group A, DME patients) and 40 eyes of 40 healthy individuals matched for age and sex (Group B, controls). Blood and aqueous samples were collected from the study participants before and one month after IVR injection. The DME patients were further subdivided into responders and non-responders according to their response to the first IVR injection. Lymphocyte activation markers, NETosis markers, angiogenic factors, astrocytes, innate immunity, and inflammasome markers were assessed in both groups. Results: Multivariate regression analysis revealed that macular ischemia, aqueous levels of hexokinase 1, SELL CD62L, ELANE, MPO, VEGFA, and SEMA4D were the most significant factors affecting the response to IVR (p < 0.05). Conclusions: defining our DME patients as responders and non-responders after the first IVR injection, combined with potential utilization of a clinical–biochemical panel (macular ischemia- PCR array of combined Hexokinase 1, MPO, and SEMA4D) in each non-responder, may represent a good starting point for changing the current DME management strategy.

To assess the role of the mRNA and protein expression of Astrocyte Elevated Gene- 1 (AEG-1) and other possible risk factors for diabetic optic neuropathy (DON) in Egyptian patients with diabetic retinopathy (DR). This case–control study constituted 450 diabetic patients divided into three groups: Group 1 included 150 DR patients with any sign of DON (diabetic papillopathy (DP), non-arteritic anterior ischemic optic neuropathy (AION), and optic atrophy (OA)). Group 2 included 150 DR patients without any sign of DON. Group 3 included 150 sex and age-matched diabetic patients without any sign of DR or DON. The expression level of AEG-1 mRNA was assessed by real-time PCR. Serum AEG-1 was determined by ELISA. Multivariate logistic regression analysis was conducted to assess the DON risk factors. The mRNA expression of the AEG-1 gene and AEG-1 protein levels were significantly increased (P < 0.001) in diabetic patients with (group 1) than without (group 2) DON. ROC curve analysis showed that the mRNA level of the AEG-1 gene exhibited a 70% specificity and a 79.33% diagnostic sensitivity. The diagnostic sensitivity of the serum concentration of AEG-1 was 84.67%, while the specificity was 70%. Multivariate regression analysis showed that the risk factors for DON were 2hpp blood sugar, HbA1c, serum cholesterol, AEG-1 gene's mRNA expression, and AEG-1 protein. Serum cholesterol, the AEG-1 gene's mRNA expression, and the AEG-1 protein are risk factors for all varieties of DON. While the blood glucose levels favour the development of DP, control of diabetes favours the occurrence of AION. Lastly, diabetes duration is more related to the presence of OA.

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.

Attention-deficit hyperactivity disorder (ADHD) has been proposed to stem from multiple etiologies, perhaps genetic in nature with biological and psychosocial motivates. Tryptophan hydroxylase 2 (TPH2) and Reelin (RELN) genes may play a key role in triggering ADHD. The purpose of this case-controlled study was to explore the linkage of the genetic variants of TPH2 and RELN genes with ADHD. One hundred Egyptian children with ADHD and 105 age and sex matched controls constituted the study samples. Genotyping was performed for TPH2 (rs11179027; rs1843809) and RELN (rs736707; rs362691) gene polymorphisms using real time PCR assay. The alleles and genotype frequencies of TPH2 and RELN gene polymorphisms were assessed in all study participants. The frequencies of the alleles of TPH2 rs11179027 (OR = 1.75, 95% CI = 1.08–2.85, p = 0.022), TPH2 rs1843809 (OR = 3.67, 95% CI = 1.82–7.43, p = RELN rs736707 (OR = 1.61, 95% CI = 1.03–2.51, p = 0.035) were significantly associated with ADHD, while there was no significant difference between ADHD patients and controls regarding the frequency of RELN rs362691 (OR = 1.34, 95% CI = 0.73–2.48, p = 0.34). The frequencies of CTAG, CTGG, CTAC, CTGC, and GTAC haplotypes were significantly higher in ADHD patients than in controls (p = 0.011, 0.005, 0.015, 0.001, and 0.027, respectively). In conclusion, TPH2 rs11179027, TPH2 rs1843809, and RELN rs736707 gene alleles and haplotypes might be significantly correlated with the genetic susceptibility to ADHD in Egyptian children.