Genetic Profile of ACE (I/D) (rs4646994) Single Nucleotide polymorphism Among Sample of Egyptian patients with Alzheimer Disease in Upper Egypt

Background: Alzheimer's disease (AD) is a chronic neurodegenerative disorder characterized by impaired memory and progressive cognitive and behavioral decline. Angiotensin converting enzyme (ACE) was suggested to have a role in inhibition of Aβ peptides accumulation with formation of plaque in vitro. The role of ACE (I/D) genotypes regarding AD development and severity is questionable. Objectives: to assess the role of ACE (I/D) single nucleotide polymorphism (SNP) as a possible genetic risk factor for AD occurrence and for prediction of the disease severity. Patients and Methods: This case- control study was carried out in the Neuropsychiatry Department, Qena University Hospital during the period between March 1st 2019 and February 28th 2020. The study included 50 AD patients and 50 healthy age, sex and education matched controls. All cases underwent clinical assessment using Mini Mental State Examination (MMSE), Advanced medical imaging with computed tomography (CT) or magnetic resonance imaging (MRI) of the brain. Genetic analysis for ACE (I/D) (rs4646994) was done using conventional PCR with primers without restriction enzyme. Results: Mean age of the included patients was 70.1 ± 9.35 years with female predominance (60%). About 46% of patients had mild disease, 42% had moderate disease and 12% had severe disease based on MMSE assessment tool. Diabetes had higher frequency among AD group (30%). ACE homozygous DD genotype had higher frequency (OD=35.9; 95%CI= [2.8-440.2]) and D allele was significantly commoner among AD group than control group (OD=2.13; 95% CI= [1.05-3.2]), (P ˂ 0.05 for all). However, no statistically significant differences in relation to degree of dementia and ACE (I/D) genotypes were recorded. Although homozygous DD genotype and D alleles had higher frequency among severe AD group (P˃0.05). Conclusion: an evidence of significant association between homozygous ACE (DD) and D allele among sample of AD patients in Upper Egypt. However, there is lack of significance association of ACE (I/D) SNP in prediction of disease severity

Case report: Avoidant/restrictive food intake disorder after tonsillectomy

BackgroundAvoidant Restrictive Food Intake Disorder (ARFID) is a newly classified eating disorder that requires further understanding of its presentation. There is no previous report of ARFID in a child post-tonsillectomy. ARFID may be a potential negative outcome for children following oropharyngeal surgery.Case presentationA female child aged 10 years and 2 months presented with ARFID associated with depression, anxiety and nutritional deficiency following tonsillectomy. She had more difficulty in swallowing solids than fluids and had repeated vomiting and spitting food after chewing it. She became dehydrated and malnourished with a BMI of 10.5 and was misdiagnosed with myasthenic gravis.ConclusionsTo our knowledge, this is the first case report of ARFID in a child post-tonsillectomy. We discuss the pathophysiology of ARFID, which remains elusive, and recommend psychiatric assessment when evaluating children post operative tonsillectomy

Cognitive impairment among an Egyptian sample of patients with schizophrenia and bipolar disorders: a comparative study

Abstract Background The cognitive profile among patients with schizophrenia (SZ) and bipolar disorder (BD) has varied widely across different studies. The aim of the current study was to compare different cognitive domains using psychometric and neurophysiological tests in patients with SZ to those with BD. A case–control study was conducted on 30 BD, 30 SZ and 30 age and sex matched control group. Each subject was submitted to the following: Wechsler Adult Intelligence Scale-3rd edition (WAIS-III), Montreal cognitive assessment scale (MoCA), Brief Visuospatial Memory Test-Revised (BVMT-R), Memory Assessment Scales (MAS), and the P300 event related potential (ERP). Results SZ and BD patients had significantly lower total and subscales of WAIS-III scores than the control group. SZ patients had significantly higher deterioration index (DI) than controls, while absence of such significant between BD and controls. SZ patients reported significantly lower MoCA scores and subitems, especially in visuospatial, naming, attention, delayed recall, and orientation subtests than controls. Only visuospatial and delayed recall scores were significantly decreased in BD than controls. SZ patients performed poorer on BVMT-R subscales than the control group. Both SZ and BD groups had lower mean values of all subscales except verbal assessment in the four memory tests. P300 latencies and amplitude had no significant difference among the three groups, although the BD group had a shorter P300 latency. Conclusion Patients with SZ and BD had significantly lower scores on various cognitive function domains in comparison to controls with more affection in SZ. The frequency of mood episodes, disease duration, and education level must be considered