CLINICAL, ENDOSCOPIC, AND HISTOLOGICAL CHARACTERISTICS OF HELICOBACTER PYLORI POSITIVE AND NEGATIVE ARMENIAN CHILDREN WITH RECURRENT ABDOMINAL PAIN AND/OR DYSPEPSIA.

Recurrent abdominal pain (RAP) and dyspepsia are common complaints in children. These symptoms are often associated with Helicobacter pylori (Hp) infection. The aim of the present study was to prospectively analyze clinical, endoscopic, and histological characteristics of Hp+ and Hp- children with RAP and/or dyspepsia. Patients aged 2-18 years with RAP and/or dyspepsia, referred for an upper endoscopy to Arabkir Medical Center - Institute of Child and Adolescent Health (Arabkir MC-ICAH) from November 2015 to December 2017, were involved in the study. Histology was assessed according to the updated Sydney system. Gastric and duodenal specimens were stained by modified Giemsa staining for Hp infection. One antral biopsy was cultured in Hp selective media. 150 patients were included into the study: 70.7% Hp+, 29.3% Hp-. Nausea and vomiting were significantly more common in Hp+ patients (p<0.05). Gastric nodularity (p=0.02), erosions in the stomach (p=0.056), and duodenal erosions (p=0.019) were more common in Hp+. Chronic active (p=0.027) and non-active gastritis (p=0.002), cumulative findings of metaplasia/dysplasia/atrophy in the stomach (p=0.014) and chronic non-active duodenitis (p=0.016), were significantly more common in Hp+ patients. Hp infection prevalence is high in Armenian children with dyspepsia and/or RAP. Clinical symptoms, endoscopic findings, and histopathological findings were significantly different in Hp+ patients as compared to Hp- patients.

[Arteriovenous malformations and epileptic seizures in children: risk factors of seizures and efficacy of their control depending on the surgical treatment modality]. / Arteriovenoznye mal'formatsii i épilepticheskie pristupy u detei: faktory riska razvitiia pristupov i éffektivnost' ikh kontrolia v zavisimosti ot metoda khirurgicheskogo lecheniia.

Epileptic seizures are some of the most frequent manifestations of cerebral AVMs in children. Poor control of seizures can significantly affect patients' quality of life. In this case, factors that are associated with the development of seizures and affect the efficacy of their control upon treatment of cerebral AVMs are not well understood. PURPOSE: The purpose of this study was to identify risk factors for the development of epileptic seizures as well as factors associated with a seizure-free outcome of AVM treatment in children. MATERIAL AND METHODS: We analyzed the results of examination and treatment in 89 patients with cerebral AVMs aged 1 to 17 years. RESULTS: Factors associated with the development of epileptic seizures in cerebral AVMs in children included male gender of the child, a large size of AVM and its superficial location, as well as localization of the pathology in the frontal and temporal lobes of the brain and draining varices. Regression of seizures after surgery was more often observed in the case of microsurgical and/or complex surgical treatment and complete exclusion of the AVM as well as in cases of rare attacks and a short course of the disease. CONCLUSION: Complex and microsurgical treatment of AVMs in children provides effective control of epileptic seizures, which is obviously associated with complete exclusion of the AVM and removal of the epileptic focus located near the AVM.

[Methods to assess competence of indirect cerebral revascularization in children]. / Metody otsenki sostoiatel'nosti nepriamoi revaskuliarizatsii golovnogo mozga u detei.

The use of catheterization cerebral angiography (CCA) to assess collateral blood flow through an indirect anastomosis is traumatic for children, uses a high radiation dose, and requires anesthetic care in most cases. AIM: we aimed to compare the capabilities of triplex ultrasound (TU) of vessels, magnetic resonance angiography (MRA), computed tomography angiography (CTA), and CCA in assessing the competence of indirect cerebral revascularization (ICR) in children. MATERIAL AND METHODS: ICR was performed in 18 children in 24 hemispheres (24 operations). The results were evaluated by Matsushima classification-based comparison of the data of preoperative and postoperative clinical examinations, TU of the superficial temporal artery, magnetic resonance imaging (MRI) and computed tomography (CT) of vessels, and selective cerebral angiography. RESULTS: After surgery, improvements in the neurological and neuropsychological status were assessed. Matsushima grade A collaterals were found in 12 (50%) cases, grade B collaterals were present in 3 (13%) cases, grade C collaterals were present in 7 (29%) cases, and grade D collaterals were detected in 1 (4%) case; in 1 (4%) case, the superficial temporal artery was not enhanced. MR angiography visualized 18 (75%) indirect anastomoses, CT angiography revealed 4 indirect anastomoses, and TU visualized 4 indirect anastomoses. Comparison of preoperative and postoperative TU data for the superficial temporal artery revealed significant changes in blood flow in the form of increased rate indices and a decreased resistance index; mean values of indices for each angiographic class of revascularization and significant differences in pre- and postoperative observations were calculated. CONCLUSION: Examination of ICR competence using CCA is necessary in the presence of persistent clinical signs of chronic cerebral circulatory insufficiency, absence of increased blood flow and decreased peripheral resistance in the superficial temporal artery, and lack of anastomosis according to MRA. The most optimal techniques for postoperative examination are MRA with perfusion and diffusion maps and TU.

Fabry disease: A fundamental genetic modifier of cardiac function.

Fabry disease (FD) is an inherited X-linked metabolic storage disorder triggered by abnormalities in the GLA gene at Xq22, which leads to a deficiency in α-galactosidase A and massive accumulation of intralysosomal glycosphingolipids. Cardiac complications are very common in FD and are the main cause of late morbidity, as well as early mortality in both hemizygous men and heterozygous women. There is a need for a multidisciplinary approach to evaluation and management of FD patients as there is a wide range of presentation of FD, which varies with mutation and other organ involvement/dysfunction. An overview of common cardiac involvement and clinical characteristics in FD including: left ventricular hypertrophy (LVH), conduction abnormalities and arrhythmias, coronary artery disease and valvular infiltrative myopathy are provided in this review. Current therapeutic approaches such as enzyme replacement therapy as well as the emergence of novel therapeutic options such as gene therapy to optimize disease outcomes in FD patients will be highlighted in this paper.

[Surgical treatment outcomes in children with tethered spinal cord syndrome. A prognosis on the basis of spinal 3T MRI tractography]. / Rezul'taty khirurgicheskogo lecheniya detei s sindromom fiksirovannogo spinnogo mozga. Prognoz na osnovanii dannykh spinal'noi 3Tl MRT-traktografii.

AIM: The study objective was to identify factors affecting surgical treatment outcomes in children with tethered cord syndrome (TCS). MATERIAL AND METHODS: The study included 21 TCS patients aged 1 to 14 years who underwent tethered cord release. The preoperative and postoperative data of clinical and neurophysiological examination and high field (3T) MRI tractography of the caudal spinal cord were compared. RESULTS: Regression of the TCS clinical and electrophysiological signs and the lack of pathological changes in the spinal cord tracts were observed in patients with filum terminale abnormalities and caudal lipomas after surgery. In patients with secondary spinal cord tethering caused by scar formation after lumbosacral myelomeningocele repair, a motor deficit was related to the interruption level of the spinal tracts, and surgical treatment did not lead to significant regression of the TCS clinical and electrophysiological signs. CONCLUSION: We consider the absence of pathological changes in the caudal spinal cord, based on spinal MRI tractography, as a favorable prognostic factor in TCS surgical treatment.

Glyceraldehyde-3-phosphate dehydrogenase (GAPDH) and Alzheimer's disease.

Glyceraldehyde-3-phosphate dehydrogenase (GAPDH) is a ubiquitous enzyme that catalyzes the sixth step of glycolysis and thus, serves to break down glucose for energy production. Beyond the traditional aerobic metabolism of glucose, recent studies have highlighted additional roles played by GAPDH in non-metabolic processes, such as control of gene expression and redox post-translational modifications. Neuroproteomics have revealed high affinity interactions between GAPDH and Alzheimer's disease-associated proteins, including the ß-amyloid, ß-amyloid precursor protein and tau. This neuronal protein interaction may lead to impairment of the GAPDH glycolytic function in Alzheimer's disease and may be a forerunner of its participation in apoptosis. The present review examines the crucial implication of GAPDH in neurodegenerative processes and clarifies its role in apoptotic cell death.

Novel presenilin mutations within Moroccan patients with Early-Onset Alzheimer's Disease.

Alzheimer's disease (AD) is a progressive brain disorder that causes gradual and irreversible loss of higher brain functions and is the most common cause of dementia in the elderly, as assessed by autopsy and clinical series. Furthermore, it has an annual incidence of approximately 3% in the 65-74-year-old age group. This incidence rate doubles with every increment of 5 years above the age of 65. In Morocco, AD affects almost 30,000 individuals and this number will possibly increase to 75,000 by 2020 (projections of the World Health Organization (WHO)). Genetically, AD is caused by a mutation in one of at least 3 genes: presenilin 1 (PS1), presenilin 2 (PS2) and the amyloid precursor protein (APP). Most cases are late onset and apparently sporadic, most likely as a result of a combination of environmental and non-dominant genetic factors. In Morocco, the genes predisposing individuals to AD and predicting disease incidence remain elusive. The purpose of the present study was to evaluate the genetic contribution of mutations in PS1 and PS2 genes to familial early-onset AD cases and sporadic late-onset AD cases. Seventeen sporadic late-onset AD cases and eight familial early-onset AD cases were seen at the memory clinic of the University of Casablanca Neurology Department. These patients underwent standard somatic neurological examination, cognitive function assessment, brain imaging and laboratory tests. Direct sequencing of each exon in PS1 and PS2 genes was performed on genomic DNA of AD patients. Further, we identified 1 novel frameshift mutation in the PS1 gene and 2 novel frameshift mutations in the PS2 gene. Our mutational analysis reports a correlation between clinical symptoms and genetic factors in our cases of Early-Onset Alzheimer's Disease (EOAD). These putative mutations cosegregate with affected family members suggesting a direct mutagenic effect.