RESUMEN
Saudi Genome program is a revolutionary nationwide transformation initiative of Saudi Vision 2030. The program goals are to recognize and reduce the incidence of genetic diseases in the Kingdom of Saudi Arabia (KSA). Accordingly, the program will establish the foundation for personalized and genomic medicine in the KSA. Epilepsy has a high prevalence in KSA reaching around 6.54 of 1000 individuals with a subsequent massive financial burden. One of the main risk factors for this high prevalence and associated with increased risk of epilepsy development is consanguinity marriage, which is traditional in KSA. In this review, we executed a comprehensive state-of-art literature review regarding epilepsy genetics to offer a perception into the genes associated with epilepsy recognized in Saudi epileptic patients. Several genes' mutations were incorporated in this review including AFG3L2, ASPM, ATN1, ATP1A2, BMP5, CCDC88A, C12orf57, DNAJA1, EML1, ERLIN2, FRRS1L, GABRG3, NRXN3, MDH1, KCNJ10, KCNMA1, KCNT1, KIAA0226, OPHN1, PCCA, PCCB, PEX, PGAP2, PI4K2A, PODXL, PRICKLE1, PNKP, RELN, SCN2A, SCN1B, SLC2A1, SLC19A3, SLC25, SIAH1, SYNJ1, SZT2, TBCK, TMX2, TSC1, TSC2, TSEN, WDR45B, WWOX, UBR, UGDH, and YIF1B. For each of these genes, we tried to explain a little about the gene associated proteins and their roles in epilepsy development.
Asunto(s)
Epilepsia , Proteasas ATP-Dependientes/genética , ATPasas Asociadas con Actividades Celulares Diversas/genética , Enzimas Reparadoras del ADN/genética , Epilepsia/genética , Humanos , Proteínas de la Membrana/genética , Proteínas de Transporte de Membrana/genética , Mutación , Proteínas del Tejido Nervioso/genética , Fosfotransferasas (Aceptor de Grupo Alcohol)/genética , Canales de potasio activados por Sodio , Proteínas Serina-Treonina Quinasas , Arabia SauditaRESUMEN
Postoperative pain management is nowadays considered an integral part of modern surgical practice. An audit was made in 2010 to assess the status of acute postoperative pain management at Jordan University Hospital. Data were collected from patients' files and through face-to-face interviews of all patients aged over 16 years who underwent general, gynaecological, ear-nose-throat and orthopaedic surgery. Of 275 patients, 72.0% experienced moderate to severe pain postoperatively at rest and 89.3% on movement. No analgesics were prescribed to 4.7% of the patients and of the remainder, a single analgesic was prescribed to 51.5%. Pethidine and paracetamol were the drugs most commonly prescribed (to 66.9% and 42.5% of patients respectively), most often on a regular schedule rather than on-demand. Despite improvements in pain management worldwide, patients at this hospital were still suffering from postoperative pain. Awareness among professionals and the public is needed and a structured acute pain management programme is essential.
Asunto(s)
Analgésicos/uso terapéutico , Manejo del Dolor/normas , Dolor Postoperatorio/terapia , Adulto , Analgesia Controlada por el Paciente/normas , Analgesia Controlada por el Paciente/estadística & datos numéricos , Analgésicos/administración & dosificación , Auditoría Clínica , Femenino , Encuestas de Atención de la Salud , Humanos , Entrevistas como Asunto , Jordania , Masculino , Registros Médicos/estadística & datos numéricos , Manejo del Dolor/métodosRESUMEN
Postoperative pain management is nowadays considered an integral part of modern surgical practice. An audit was made in 2010 to assess the status of acute postoperative pain management at Jordan University Hospital. Data were collected from patients' files and through face-to-face interviews of all patients aged over 16 years who underwent general, gynaecological, ear-nose-throat and orthopaedic surgery. Of 275 patients, 72.0% experienced moderate to severe pain postoperatively at rest and 89.3% on movement. No analgesics were prescribed to 4.7% of the patients and of the remainder, a single analgesic was prescribed to 51.5%. Pethidine and paracetamol were the drugs most commonly prescribed [to 66.9% and 42.5% of patients respectively], most often on a regular schedule rather than on-demand. Despite improvements in pain management worldwide, patients at this hospital were still suffering from postoperative pain. Awareness among professionals and the public is needed and a structured acute pain management programme is essential