A Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case Report.

Oral-facial-digital syndrome as heterogeneous developmental conditions is characterized by abnormalities in the oral cavity, facial features and digits. Furthermore, central nervous system (CNS) abnormalities can also be part of this developmental disorder. At least 13 forms of OFDS based on their pattern of signs and symptoms have been identified so far. Type 1 which is now considered to be a ciliopathy accounts for the majority of cases. It is transmitted in an X-linked dominant pattern and caused by mutations in OFD1 gene, which can result in embryonic male lethality. In this study, we present a family suffering from orofaciodigital syndrome type I who referred to Medical Genetics Research Center, Shahid Sadoughi University of Medical Sciences in 2015. Two female siblings and their mother shared a novel 2-base pair deletion (c.1964-1965delGA) in exon 16 of OFD1 gene. Clinically, the sibling had oral, facial and brain abnormalities, whereas their mother is very mildly affected. She also had history of recurrent miscarriage of male fetus

A Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case Report

This is the final version. Available on open access from Tehran University of Medical Sciences via the link in this recordOral-facial-digital syndrome as heterogeneous developmental conditions is characterized by abnormalities in the oral cavity, facial features and digits. Furthermore, central nervous system (CNS) abnormalities can also be part of this developmental disorder. At least 13 forms of OFDS based on their pattern of signs and symptoms have been identified so far. Type 1 which is now considered to be a ciliopathy accounts for the majority of cases. It is transmitted in an X-linked dominant pattern and caused by mutations in OFD1 gene, which can result in embryonic male lethality. In this study, we present a family suffering from orofaciodigital syndrome type I who referred to Medical Genetics Research Center, Shahid Sadoughi University of Medical Sciences in 2015. Two female siblings and their mother shared a novel 2-base pair deletion (c.1964-1965delGA) in exon 16 of OFD1 gene. Clinically, the sibling had oral, facial and brain abnormalities, whereas their mother is very mildly affected. She also had history of recurrent miscarriage of male fetus

Effect of Gabapentin on Postoperative Pain and Operation Complications: A Randomized Placebo Controlled Trial

Objective: Prevention and treatment of postoperative pain and operation complications such as nausea and vomiting are most important concerns in postoperative care. There are several mechanisms involved in postoperative pain. Gabapentin is a gamma aminobutyric acid analogue that is known as an anticonvulsant drug. This drug is tolerated well and has known effects on pain and anxiety. This study has compared the effect of gabapentin on postoperative pain, operation complications and haemodynamics. Subjects and Methods: This randomized double blinded placebo controlled clinical trial was conducted on 61 patients divided randomly into two groups (30 as cases and 31 as controls). All patients had total abdominal hysterectomy. In the first group, the patients got 100 mg gabapentin in the night and 300 mg gabapentin orally (one capsule) two hours before surgery. The second group got one capsule of multivitamin orally. Then all patients were subjected to the same anaesthesia protocol and total abdominal hysterectomy. During the 24 hours after operation, the patients were assessed according to pain, nausea, vomiting, dizziness, systolic blood pressure (SBP), diastolic blood pressure (DBP), pulse rate (PR) and morphine use at 1, 6, 12 and 24 hours. Results: Mean age and weight of patients were 45.86 ± 4.06, 48.16 ± 4.48, 64.56 ± 13.29 and 68.8 ± 12.88 in the study population and control groups, respectively. Except in the first hour after operation (p = 0.02), there was no significant differences between the two groups in morphine use. There was no significant correlation between the groups according to postoperative complications and the haemo-dynamic parameters (PR, SBP and DBP). Conclusion: Results show that gabapentin can decrease the need for morphine use in the first hour after operation only and has no significant effect on operation complications. Thus, we suggest gabapentin for pain management, and not to decrease opium use. Keywords: Abdominal hysterectomy, gabapentin, postoperative pain "Efecto de la Gabapentina en el Dolor Postoperatorio y Complicaciones de la Operación: un Ensayo Clínico, Aleatorio, Controlado con Placebo" RESUMEN Objetivo: La prevención y tratamiento de dolor postoperatorio y las complicaciones de la operación – tales como la náusea y el vómito – son problemas de suma importancia en el cuidado postoperatorio. Hay varios mecanismos implicados en el dolor postoperatorio. La gabapentina es un análogo del ácido gamma-aminobutírico, conocido como un medicamento anticonvulsivo.  Este medicamento es bien tolerado, y tiene efectos conocidos sobre el dolor y la ansiedad.  El presente estudio compara el efecto de la gabapentina sobre el dolor postoperatorio, las complicaciones de la operación, y la hemo-dinámica. Sujetos y Métodos: Este ensayo clínico, aleatorio, doble ciego y controlado con placebo, se llevó a cabo con 61 pacientes divididos aleatoriamente en dos grupos (30 como casos y 31 como control). Todas las pacientes tuvieron histerectomía abdominal total. En el primer grupo, las pacientes recibieron vía oral 100 mg de gabapentina por la noche y 300 mg de gabapentina (una cápsula) dos horas antes de la cirugía. El segundo grupo recibió una cápsula de multivitaminas por vía oral. Luego, todas las pacientes fueron sometidas al  mismo protocolo de anestesia e histerectomía abdominal total. Durante las 24 horas después de la operación, las pacientes fueron evaluadas en relación con dolores, náusea, vómitos, vértigo, presión sanguínea sistólica (PSS), presión sanguínea diastólica (PSD), frecuencia de pulso (FP), y el uso de morfina a la 1, 6, 12 y 24 horas. Resultados: La edad promedio y el peso de las pacientes fue 45.86 ± 4.06, 48.16 ± 4.48, 64.56 ± 13.29 y 68.8 ± 12.88 en la población de estudio y los grupos de control, respectivamente. Excepto en la primera hora tras la operación (p = 0.02), no hubo ninguna diferencia significativa entre los dos grupos en cuanto al uso de morfina. No hubo correlación significativa alguna entre los grupos sobre la base de las complicaciones postoperatorias y los parámetros hemodinámicos (FP, PSS, y PSD). Conclusión: Los resultados muestran que la gabapentina sólo puede disminuir la necesidad del uso de morfina en la primera hora tras la operación, y no tiene efectos significativos en las complicaciones de la operación. Por lo tanto, se sugiere el uso de la gabapentina para el tratamiento del dolor, pero no para reducir el uso del opio.   Palabras claves: histerectomía abdominal, gabapentina, dolor postoperatori