Neonatal Seizures: Etiology and Frequency

ObjectiveThe aim of the present study was to evaluate the etiology and frequency of neonatal seizure in hospitalized neonates.Materials and MethodsIn this descriptive, cross-sectional study, we evaluated 1295 neonates with seizures admitted to neonatal and NICU wards in our center. Data was collected on age, sex, birth weight, serum levels of calcium, glucose, and sodium, CT scan findings, history of maternal opium abuse, blood and cerebrospinal fluid culture, and analyzed using SPSS 13.ResultsOf a total of 1295 patients, 34 (2.62%) had seizure. Mean age was 14.03 ± 10.05 days (range, 1 to 29 days); twenty-five (73.5%) neonates were boys and 9 (26.5%) were girls. Of 34 neonates with neonatal seizures, 12 (35.3%), 11 (32.4%), 9 (26.5%), 7 (20.6%), and 3 (8.8%) had hypocalcemia, asphyxia, hypoglycemia, intracranial hemorrhage, and hypernatremia, respectively.Maternal addiction, meningitis, and sepsis were found in 3 (8.8%), 1 (2.9%) and 1 (2.9%) of neonates, respectively.ConclusionThe incidence rate of neonatal seizure in the neonates in our NICU and neonatal ward was 2.62%. Common causes of seizure in this study included hypocalcemia, asphyxia, hypoglycemia, intracranial hemorrhage, and hypernatremia. Maternal ddiction, meningitis and sepsis had the lowest prevalence

Functional brain activity constrained by structural connectivity reveals cohort-specific features for serum neurofilament light chain

Background: Neuro-axonal brain damage releases neurofilament light chain (NfL) proteins, which enter the blood. Serum NfL has recently emerged as a promising biomarker for grading axonal damage, monitoring treatment responses, and prognosis in neurological diseases. Importantly, serum NfL levels also increase with aging, and the interpretation of serum NfL levels in neurological diseases is incomplete due to lack of a reliable model for age-related variation in serum NfL levels in healthy subjects. Methods: Graph signal processing (GSP) provides analytical tools, such as graph Fourier transform (GFT), to produce measures from functional dynamics of brain activity constrained by white matter anatomy. Here, we leveraged a set of features using GFT that quantified the coupling between blood oxygen level dependent signals and structural connectome to investigate their associations with serum NfL levels collected from healthy subjects and former athletes with history of concussions. Results: Here we show that GSP feature from isthmus cingulate in the right hemisphere (r-iCg) is strongly linked with serum NfL in healthy controls. In contrast, GSP features from temporal lobe and lingual areas in the left hemisphere and posterior cingulate in the right hemisphere are the most associated with serum NfL in former athletes. Additional analysis reveals that the GSP feature from r-iCg is associated with behavioral and structural measures that predict aggressive behavior in healthy controls and former athletes. Conclusions: Our results suggest that GSP-derived brain features may be included in models of baseline variance when evaluating NfL as a biomarker of neurological diseases and studying their impact on personality traits

Genetics of intellectual disability in consanguineous families

Autosomal recessive (AR) gene defects are the leading genetic cause of intellectual disability (ID) in countries with frequent parental consanguinity, which account for about 1/7th of the world population. Yet, compared to autosomal dominant de novo mutations, which are the predominant cause of ID in Western countries, the identification of AR-ID genes has lagged behind. Here, we report on whole exome and whole genome sequencing in 404 consanguineous predominantly Iranian families with two or more affected offspring. In 219 of these, we found likely causative variants, involving 77 known and 77 novel AR-ID (candidate) genes, 21 X-linked genes, as well as 9 genes previously implicated in diseases other than ID. This study, the largest of its kind published to date, illustrates that high-throughput DNA sequencing in consanguineous families is a superior strategy for elucidating the thousands of hitherto unknown gene defects underlying AR-ID, and it sheds light on their prevalence

DFT-B3LYP study of interactions between host biphenyl-1-aza-18-crown-6 ether derivatives and guest Cd2+: NBO, NEDA, and QTAIM analyses

This report present the results of natural energy decomposition analysis (NEDA), natural bond orbital (NBO), and quantum theory of atoms in molecules (QTAIM) calculations of three derivatives of biphenyl-1-aza-18-crown-6 ether and their 1:1 complexes with Cd2+. All calculations used the B3LYP density functional theory in combination with the 6-311G and WTBS basis sets for ligands and Cd2+ ion, respectively. Ligands 1 and 3 have a single 1-aza-18-crown-6, substituent; ligand 2 has two such substituents. The results show that, in the optimized geometries of the complexes, the distance between N and Cd2+ is greater than the distance between O and Cd2+. NBO and QTAIM data confirm these results. There was no stabilization energy or bond critical point for N · · · Cd2+ in NBO or QTAIM, respectively. Data show that the O · · · Cd2+ interaction is a kind of closed shell interaction. The trend of the calculated stabilization energy was similar to the experimental data. Different contributions of interaction energies for complex formation were analyzed by NEDA, and the results show that the main component of the interactions is accounted for by polarization

Advanced molecular approaches pave the road to a clear-cut diagnosis of hereditary retinal dystrophies.

Purpose: The aim of this study was to identify the molecular genetic basis of hereditary retinal dystrophies (HRDs) in five unrelated Iranian families. Methods: Whole exome sequencing and Sanger sequencing were performed in all families. Variants were analyzed using various bioinformatics databases and software. Results: Based on the selected strategies, we identified potentially causative variants in five families with HRDs: the novel homozygous deletion mutation c.586_589delTTTG (p.F196Sfs*56) in the TTC8 gene of family A, the novel homozygous missense mutation c.2389T>C (p.S797P) in the CRB1 gene in family B, the novel homozygous frameshift mutation c.2707dupA (p.S903Kfs*66) in the LRP5 gene in family C, the novel homozygous splice mutation c.584–1G>T in the MERTK gene in family D, and the novel homozygous missense mutation c.1819G>C (p.G607R) rs61749412 in the ABCA4 gene of family E. Conclusions: This study highlights the presence of five novel variants associated with retinal dystrophies in selected Iranian families with hereditary blindness