Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants

Gamma-aminobutyric acid (GABA) and glutamate are the most abundant amino acid neurotransmitters in the brain. GABA, an inhibitory neurotransmitter, is synthesized by glutamic acid decarboxylase (GAD). Its predominant isoform GAD67, contributes up to ∼90% of base-level GABA in the CNS, and is encoded by the GAD1 gene. Disruption of GAD1 results in an imbalance of inhibitory and excitatory neurotransmitters, and as Gad1−/− mice die neonatally of severe cleft palate, it has not been possible to determine any potential neurological dysfunction. Furthermore, little is known about the consequence of GAD1 disruption in humans. Here we present six affected individuals from six unrelated families, carrying bi-allelic GAD1 variants, presenting with developmental and epileptic encephalopathy, characterized by early-infantile onset epilepsy and hypotonia with additional variable non-CNS manifestations such as skeletal abnormalities, dysmorphic features and cleft palate. Our findings highlight an important role for GAD1 in seizure induction, neuronal and extraneuronal development, and introduce GAD1 as a new gene associated with developmental and epileptic encephalopathy

Etiology of Diarrhea in Older Children, Adolescents and Adults: A Systematic Review

Diarrhea is an important cause of illness and death around the world and among people of all ages, but unfortunately we often do not know what specific bacterium or virus causes the illness. We conducted a review of the scientific literature with the goal of finding published studies that identified bacteria and viruses among patients with diarrhea in the community and in hospital settings. We initially found nearly 26,000 papers on this topic but narrowed the list to 22 studies that met all of our specific criteria for inclusion in our review. Among patients hospitalized for diarrhea, E coli and Vibrio cholerae were found in more than 49% of people living in middle income and poor countries. Among patients who sought care from their doctor on an outpatient basis, Salmonella spp., Shigella spp., and E. histolytica were most often found. In our review we focused on the differences in the distribution of pathogens between patients in inpatient vs. outpatient settings because these estimates may best approximate what we would expect to see if the distribution were applied to global estimates of diarrhea deaths vs. uncomplicated illnesses

Analiza efektywnych czynników w zarządzaniu wodą w rolnictwie w Iranie

The aim of this study was to analyse the factors affecting agricultural water management in Iran based on irrigation experts' point of view using factor analysis approach. The results indicated that conservation of modern irrigation equipment, promoting farmers’ knowledge, creating a watercourse (surface water collection), imposing a ban on digging new wells and educating the effectiveness of pressurized irrigation system were all known as the most important factors affecting agricultural water management. Moreover, factor analysis results showed that five factors influencing agricultural water management (institutional and legislative, educational and promotional, economic, technical and farming system) explained 64.29% of the total variance. At the end, some policy suggestions were provided in order to improve agricultural water management in Iran.Celem badań była analiza czynników wpływających na gospodarkę wodną w rolnictwie w oparciu o poglądy ekspertów, z wykorzystaniem metody analizy czynnikowej. Wyniki wskazują, że zachowanie nowoczesnych urządzeń irygacyjnych, promocja wiedzy rolniczej, tworzenie cieków (gromadzenie wód powierzchniowych), wprowadzenie zakazu wiercenia nowych studni i edukacja w zakresie wydajności ciśnieniowych systemów irygacyjnych, to znane i najważniejsze czynniki wpływające na gospodarkę wodną. Ponadto, analiza czynnikowa wykazała, że pięć czynników wpływających na gospodarkę wodną w rolnictwie (systemy instytucjonalne i prawne, edukacja i promocja, system ekonomiczny i techniczny oraz gospodarka rolna) wyjaśniały 64,29% całkowitej zmienności. W podsumowaniu sformułowano kilka sugestii co do polityki wodnej w celu usprawnienia gospodarki wodnej w rolnictwie w Iranie