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Introduction For spastic hip dislocations, a variety of operations are available with open hip reduction and varus derotational osteotomy of the proximal femur combined with pelvic osteotomy ± adductor release being a good option with favourable outcomes. This study aims to assess the outcome and complications of combined open hip reduction with pelvic osteotomy and varus derotational osteotomy. Methods In this study, 70 hips in 52 patients with spastic hip dislocation due to cerebral palsy were included. All included patients were treated surgically in our institute between January 2016 and December 2021. There were 31 males and 21 females. For each patient, information was collected about the age at the time of surgery and different radiological parameters at three different time intervals: pre-operatively, immediately post-operatively, and at the final follow-up. We also collected information about any complications arising from the surgery performed. Results The mean duration of follow-up was 19.58 months. The acetabular index decreased from an average of 35.01° to 17.18° with a mean difference of 17.83° (p<0.001). The central edge angle, which averaged -49.13° in the pre-operative period, increased to 26.34° and then marginally decreased to 25.47° at the final follow-up. The average migration index of 80.51% in the pre-operative period improved to 1.4% post-operatively with a mean difference of -79.11% (p<0.01). The migration index increased to 8.54% at the final follow-up. Similarly, the neck-shaft angle, which averaged 160.89° in the pre-operative period, decreased to 125.23° at the time of final follow-up with a percentage change of -22.16%. Conclusion Single-stage combined surgery in the form of combined open hip reduction and pelvic osteotomy with varus derotational osteotomy successfully treats the condition and shows good outcomes in patients with spastic hip dislocations. This treatment is associated with very few complications.
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INTRODUCTION: Pancreatitis is an inflammation of the pancreas. The pancreas is a flat, elongated gland situated in the upper abdomen, beyond the stomach. It produces digestive enzymes and hormones that regulate glucose absorption in the body. Pancreatitis can be acute, developing rapidly and lasting for several days, or chronic, persisting over an extended period and affecting specific individuals. While treatment can improve mild cases of pancreatitis, severe cases can be fatal. METHOD: This study utilizes a cross-sectional survey design with 549 participants, allowing data collection from a representative sample of Tabuk City's adult population. RESULTS: The participants' knowledge about the risk factors and symptoms of pancreatitis was inadequate. Among those who did not receive any information about pancreatitis and its risk factors, the count was 352 (64.1%). On the other hand, there was increased awareness of pancreatitis and its risk factors, which would lead to early detection and prevention. A total of 483 participants (88%) expressed adequate agreement, and 305 participants (55.6%) demonstrated an adequate response regarding seeking medical attention if they experienced any symptoms of pancreatitis. CONCLUSION: Our findings revealed a lack of knowledge about the risk factors and symptoms of pancreatitis. Furthermore, there was inadequate awareness regarding governmental initiatives or programs that support access to pancreatitis knowledge and awareness in Tabuk City.
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INTRODUCTION: Posterior spinal instrumented fusion remains the mainstay treatment for adolescent idiopathic scoliosis (AIS) with acceptable post-operative patient satisfaction. However, in Saudi Arabia, patient satisfaction after surgical management for AIS has not been thoroughly studied. The purpose of this study was to determine patient satisfaction and quality of life using the Scoliosis Research Society-22r (SRS-22r, the most recent version) questionnaire after surgical correction of AIS in Saudi Arabia. METHODS: A retrospective study was conducted that included patients who underwent posterior spinal instrumented fusion for AIS from January 1995 through December 2015. We included 115 patients (both males and females) in our study. We used the Arabic version of the SRS-22r questionnaire that was completed through telephonic interviews. Data collected were then analyzed using SPSS Statistics, version 23. RESULTS: The mean age of our patients at the time of surgery was 15.0 ± 2.6 years and the average time from surgery to interview was 9.4 ± 4.7 years. A positive response was recorded in all domains including pain, function, mental health, and self-image. Furthermore, 76.5% of the patients were satisfied with their management outcome and 81.7% of the patients reported no complications. CONCLUSION: Surgical correction of AIS improved the quality of life of our patients that was assessed using the Arabic version of the SRS-22r questionnaire. Apart from overall patient satisfaction, positive responses were recorded in all four domains of the SRS-22r questionnaire.
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Monosomy 1p36 deletion is a rare syndrome that consists of developmental delay, intellectual disability, seizures, hearing and vision defects, brain anomalies, orofacial clefting, congenital heart defects, cardiomyopathy, renal anomalies, and scoliosis. We report the case of an eight-year-old boy who presented to the orthopedic clinic with spinal deformity with a background of 1p36 deletion syndrome. The treatment modalities at this age include growing rods, vertical expandable prosthetic titanium rib (VEPTR), or posterior spinal fusion. Keeping in view the challenges in this case due to multi-organ involvement and severe intellectual disability, we decided to manage this patient with a VEPTR device to prevent the progression of scoliosis and allow spinal growth. Vertical expandable prosthetic titanium rib (VEPTR) instrumentation for progressive scoliosis in p36 deletion syndrome is an effective mode of treatment and leads to favorable outcomes.
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Introduction For Sprengel deformity, a variety of operations are available, with Woodward's procedure being a favorable option with good outcomes. This study aims to assess the outcomes of Woodward's procedure with brachial plexus monitoring to prevent the possible complications of nerve injury and consequent deficits. Methods In our study, we included 18 patients with Sprengel deformity treated with Woodward's procedure using intraoperative neuromonitoring for the brachial plexus from 2013 to 2019 at our institute. For each patient, we collected information about age, gender, follow-up duration, affected shoulder side, and presence of an omovertebral bar. Also, preoperative and postoperative degrees of shoulder abduction, Cavendish grade of cosmetic appearance, Rigaults grade, and difference in scapular elevation along with postoperative complications were all measured to evaluate the outcomes. Results The mean duration of follow-up was 12 months. The average preoperative Cavendish grade was 3.1, which decreased to 1.3 on the final follow-up. The average preoperative Rigault grade was 2.5, which has decreased to an average of 1.8. The average increase in the degree of shoulder abduction postoperatively was 48.3°. The average preoperative difference in scapular height (mm) was 26.9, which decreased to an average of 12.2. Furthermore, the final outcome was not impacted by the absence or the existence of the omovertebral bar. Conclusion Woodward's procedure using intraoperative neuromonitoring without clavicle osteotomy for Sprengel's deformity successfully corrects the deformity and decreases the risk of iatrogenic brachial plexus injury.
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BACKGROUND: Rho/ROCK signaling has been demonstrated to be involved in the vascular reactivity of many arterial networks. However, RhoA expression and the contribution of Rho/ROCK pathway to the control of perfusion pressure have not been investigated in the rat hind limb vascular bed as a skeletal muscle vascular network. AIMS: To investigate the contribution of the Rho/ROCK pathway in the control of perfusion pressure in the isolated-perfused rat hind limb vascular bed. STUDY DESIGN: Animal experimentation. METHODS: Two Rho inhibitors (atorvastatin and C3 exoenzyme) and ROCK inhibitors (Y-27632 and fasudil) were tested on the phenylephrine-elevated perfusion pressure in the isolated-perfused rat hind limb vascular bed. Furthermore, we sought the expression of RhoA protein in the femoral, popliteal and saphenous arteries as well as quadriceps and gastrocnemius muscles by Western blotting. RESULTS: The ROCK inhibitors Y-27632 and fasudil (both 10-8 to 10-5 M) induced substantial vasodilatations. The maximum vasodilatations induced by Y-27632 and fasudil (both at 10-5 M) were 84.0 ± 6.9% and 76.9 ± 6.9%, respectively (P = .091). Y-27632 was not more potent than fasudil, as the EC50 values for Y-27632 and fasudil were 0.7 ± 2.1 µM and 2.5 ± 2.4 µM, respectively (P = .177). Atorvastatin (10-7 to 10-4 M) and C3 exoenzyme (3 × 10-8 M) also produced vasodilatation (maximum vasodilatation; 20.3 ± 1.7% and 13.7 ± 3.6%, respectively). The EC50 value for atorvastatin was 94.9 ± 1.2 µM. The western blot analysis showed that the femoral, saphenous, and popliteal arteries, as well as the gastrocnemius and quadriceps muscles, express RhoA protein. CONCLUSION: The Rho/ROCK pathway contributes significantly to the control of perfusion pressure in the rat hind limb vascular bed.
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Perfusión/métodos , Quinasas Asociadas a rho/metabolismo , Proteína de Unión al GTP rhoA/metabolismo , 1-(5-Isoquinolinesulfonil)-2-Metilpiperazina/análogos & derivados , 1-(5-Isoquinolinesulfonil)-2-Metilpiperazina/farmacología , Amidas/farmacología , Animales , Atorvastatina/farmacología , Relajantes Musculares Centrales/farmacología , Piridinas/farmacología , Ratas , Vasodilatación/efectos de los fármacos , Vasodilatación/fisiología , Vasodilatadores/farmacologíaRESUMEN
Müllerian duct aplasia-renal agenesis-cervicothoracic somite dysplasia (MURCS) association is a rare syndrome. This unique condition consists of Müllerian duct aplasia, cervicothoracic somite dysplasia, and renal aplasia, and skeletal abnormalities manifesting in childhood. We report the case of a 14-year-old girl who presented to the orthopedic clinic with spinal deformity and Sprengel's shoulder complicated by a background of MURCS association. The treatment modalities of scoliosis include posterior spinal fusion and the vertical expandable prosthetic titanium rib. On the other hand, Sprengel's deformity is surgically managed by Woodward's procedure. The management plan for our patient involved correcting scoliosis by the posterior spinal fusion procedure and performing Woodward's procedure to correct Sprengel's deformity simultaneously. Simultaneous scoliosis correction with posterior spinal instrumented fusion and Sprengel's deformity correction with modified Woodward's procedure is a promising surgical technique that can lead to favorable outcomes.
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INTRODUCTION: In congenital anomalies of the thoracic spine, fusion in situ and hemi-epiphysiodesis are unsuitable surgical options, because three-dimensional thoracic deformity and insufficiency are uncorrectable. We aimed to evaluate the radiological outcome of vertical expandable titanium rib (VEPTR) application after follow-up in children with congenital scoliosis with or without rib fusion. METHODS: In our study, we included 58 patients with congenital scoliosis with or without fused ribs; all treated with VEPTR from 2005 to 2015 at our institute. There were 19 males and 39 females. For each patient, we collected information about age at the index surgery (VEPTR application) and the total number of VEPTR lengthening procedures. Also, Cobb angle, kyphotic angle, thoracic height, and spinal height were measured on preoperative radiographs, immediately post-operative, two years post-operative, and at final follow-up. RESULTS: The mean duration of follow-up was five years (range, 2-12 years). Twenty-eight patients had rib-to-pelvis type VEPTR, 20 patients had rib-to-rib type VEPTR, and 10 patients had a rib to pedicle/lamina type of VEPTR implant. Post-VEPTR, 63.8% of our patients reported one or more complications. The immediate post-VEPTR application showed that the mean Cobb angle decreased to 43.56° with a percentage change of 22.8% (p<0.001). The mean increase in thoracic height between VEPTR application surgery and final follow-up was 32 mm with a 19.3% increase (p<0.001). Similarly, the mean increase in the spinal height between the VEPTR application surgery and final follow-up was 46.6 mm, with a 23% increase (p<0.001). CONCLUSIONS: VEPTR instrumentation for congenital scoliosis, with or without rib fusion, successfully corrects the coronal Cobb angle in the majority of patients. It also allows the thoracic (T1-T12) and spinal (T1-S1) growth to approach normal for a particular age.
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BACKGROUND: Hereditary Multiple Exostoses (HME), also known as Multiple Osteochondromas (MO) is a rare genetic disorder characterized by multiple benign cartilaginous bone tumors, which are caused by mutations in the genes for exostosin glycosyltransferase 1 (EXT1) and exostosin glycosyltransferase 2 (EXT2). The genetic defects have not been studied in the Saudi patients. AIM OF STUDY: We investigated mutation spectrum of EXT1 and EXT2 in 22 patients from 17 unrelated families. METHODS: Genomic DNA was extracted from peripheral leucocytes. The coding regions and intron-exon boundaries of both EXT1 and EXT2 genes were screened for mutations by PCR-sequencing analysis. Gross deletions were analyzed by MLPA analysis. RESULTS: EXT1 mutations were detected in 6 families (35%) and 3 were novel mutations: c.739G > T (p. E247*), c.1319delG (p.R440Lfs*4), and c.1786delA (p.S596Afs*25). EXT2 mutations were detected in 7 families (41%) and 3 were novel mutations: c.541delG (p.D181Ifs*89), c.583delG (p.G195Vfs*75), and a gross deletion of approximately 10 kb including promoter and exon 1. Five patients from different families had no family history and carried de novo mutations (29%, 5/17). No EXT1 and EXT2 mutations were found in the remaining four families. In total, EXT1 and EXT2 mutations were found in 77% (13/17) of Saudi HME patients. CONCLUSION: EXT1 and EXT2 mutations contribute significantly to the pathogenesis of HME in the Saudi population. In contrast to high mutation rate in EXT 1 (65%) and low mutation rate in EXT2 (25%) in other populations, the frequency of EXT2 mutations are much higher (41%) and comparable to that of EXT1 among Saudi patients. De novo mutations are also common and the six novel EXT1/EXT2 mutations further expands the mutation spectrum of HME.
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Exostosis Múltiple Hereditaria , N-Acetilglucosaminiltransferasas/genética , Análisis Mutacional de ADN , Exones , Exostosis Múltiple Hereditaria/genética , Humanos , Mutación/genética , Arabia SauditaRESUMEN
INTRODUCTION: This study aimed to evaluate the use of a cell savage and its impact on the amount of allogenic blood transfused to the patients during idiopathic scoliosis surgery. METHODS: A total of 142 randomly selected patients with scoliosis had been included in this study. The adult group consisted of 78 patients, and the pediatric group, 64 patients. Both groups were divided into subgroups (pre-cell saver era and cell saver era). Data on the following parameters were collected: amount of blood transfused intraoperatively, within 24 h postoperatively, and overall. The number of patients who received transfusion was counted as the number of patients who avoided any transfusion. For statistical purposes, we performed unpaired student t-test, chi-square test, and Mann-Whitney test. RESULTS: There was no significant difference in adult groups perioperatively. In the pediatric group, there was a statistically significant difference intraoperatively. Economic analysis of blood management showed positive numbers for both groups, where more than 1 unit of blood was transfused. CONCLUSIONS: Statistical analysis showed the cost-effectiveness of the perioperative use of cell salvage during pediatric scoliosis surgery. Overall, the use of cell salvage during scoliosis surgery had a positive impact on both blood management and patient recovery.
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INTRODUCTION: Congenital upper limb Amelia is one of the extremely rare conditions in the world. Defined as complete absence of a limb which may present as isolated defect or as a part of syndrome with associated anomalies. PRESENTATION OF THE CASE: We report a case of a medically free 6-year-old boy with bilateral upper limb Amelia associated with right thoracolumbar idiopathic Scoliosis. DISCUSSION: Treatment for early onset scoliosis includes either posterior spinal fusion and instrumentation, or Vertical Expandable Prosthetic Titanium Rib (VEPTR). The choice of care for our patient was decided to be VEPTR alone as definitive management. Up to our knowledge, there are very scanty articles published regarding treatment for such cases. CONCLUSION: Patient underwent vertical expandable prosthetic titanium rib (VEPTR) application for his large 45-degree curve as a definitive treatment and still have his preoperative physical functions, in terms of using lower limbs in daily living activities.
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Venous (cavernous) malformations are commonly seen in the upper limb. Almost all venous malformations are congenital. They may be sporadic, familial, or syndromic. Late-onset, multiple venous malformations confined to the upper limb are rare. Lesions present after puberty. All previously reported cases were located subcutaneously and were small in size. The condition is non-hereditary and non-syndromic. We present a unique series of eight patients with this rare condition. Unique features included the presence of large malformations (up to 20 cm in diameter) and the presence of subfascial lesions causing nerve compression. Surgical excision was curative. Mutational analysis in one patient identified a novel somatic MAP3K3 gene mutation (c.1723T > C, p.Tyr 575 His) in the affected veins. The encoded MAP3K3 protein is known to accelerate the RAS pathway of cellular proliferation.Level of evidence: IV.
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Anomalías Múltiples , MAP Quinasa Quinasa Quinasa 3/genética , Malformaciones Vasculares , Humanos , Mutación , Extremidad Superior , Malformaciones Vasculares/genética , VenasRESUMEN
BACKGROUND: Synovial sarcoma (SS) is one of the reported sarcomas in the pediatric and adult populations. Delay in diagnosis and treatment is common in SS cases. SS may be excised before the correct diagnosis is made. CASE PRESENTATION: we present a case involving a 4-year-old boy who visited our service with complaints of left knee pain and limited knee flexion. Initially, the child was diagnosed with osteochondromatosis. Surgical excision was opted, and initial histopathological examination revealed a fibrous histiocytoma. The slide and blocks were then brought to the King Faisal Specialist Hospital Research Center (KFSH&RC) and histopathologic analysis has shown a well-circumscribed nodule in the synovium with a sub-synovial monomorphic spindle cell sarcoma, confirmed by fluorescence in situ hybridization (FISH). CONCLUSIONS: Therefore, we strongly recommend considering all differential diagnoses for soft-tissue masses when planning surgical management.
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Errores Diagnósticos , Histiocitoma Fibroso Benigno/diagnóstico , Osteocondromatosis/diagnóstico , Sarcoma Sinovial/diagnóstico , Neoplasias de los Tejidos Blandos/diagnóstico , Preescolar , Diagnóstico Diferencial , Estudios de Seguimiento , Humanos , Hibridación Fluorescente in Situ , Articulación de la Rodilla/patología , Articulación de la Rodilla/cirugía , Masculino , Rango del Movimiento Articular , Sarcoma Sinovial/cirugía , Neoplasias de los Tejidos Blandos/cirugía , Resultado del TratamientoRESUMEN
BACKGROUND: We used a cross-sectional study design (questionnaire) to investigate the use of image-guided navigation (IGN) in Saudi Arabia and explore possible differences in implementing IGN for daily practice. METHODS: An internet-based survey was sent to all spine surgeons who are practicing in Saudi Arabia (orthopedics or neurosurgery). The survey is composed of 12 items that collected demographic and academic data. RESULTS: Ninety-nine answered the questionnaire from 197; 80% were from Riyadh, the capital, and 50% were consultants (attending physicians). Orthopedic surgeons were almost 60% of responders compared to 40% neurosurgeons. The use of navigation in Saudi hospitals was high (76.8%). There was a significant difference between specialties in the preference of using navigation (23.2% for orthopedics versus 81.4% for neurosurgery, P < .001) and routine use in surgical spine cases (88.4% for neurosurgery versus 50.0% orthopedics, P < .001). The majority of responders from neurosurgery learned to use navigation during residency compared to orthopedics responders (51.2% versus 28.6%, P = .001). More than 30% of orthopedics responders expressed they never learned navigation compared to only 4% of neurosurgery responders. The comfort level of > 75% with performing surgery using navigation was significantly different between specialties (25% for orthopedics versus 46.5% for neurosurgery, P < .001). CONCLUSION: Saudi spine surgeons are among the highest users of IGN systems. The strong healthcare infrastructure and the availability of these devices across the country are among the most important factors for its prevalence. Enhancing surgical exposure and education of postgraduate trainees to use these tools, especially within orthopedics, could increase use and comfort level rates.
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Hereditary sensory autonomic neuropathy type IV (HSAN-IV) is a rare autosomal recessive disorder that usually begins in infancy and is characterized by anhidrosis, insensitivity to noxious stimuli leading to self-mutilating behavior, and intellectual disability. HSAN-IV is caused by mutations in the neurotrophic tyrosine kinase receptor type 1 gene, NTRK1, encoding the high-affinity receptor of nerve growth factor (NGF) which maps to chromosome 1q21-q22. Patients with HSAN-IV lack all NGF-dependent neurons, the primary afferents and sympathetic postganglionic neurons leading to lack of pain sensation and the presence of anhidrosis, respectively. Herein, we report nine patients from nine unrelated families with HSAN-IV due to various mutations in NTRK1, five of which are novel. These are three missense and two nonsense mutations distributed in various domains of NTRK1 involved in binding of NGF. The affected patients had variable intellectual deficits, and some had delayed diagnosis of HSAN-IV. In addition to being the first report of HSAN-IV from the Arabian Peninsula, this report expands the mutational spectrum of patients with NTRK1 mutations and provides further insights for molecular and clinical diagnosis.
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Codón sin Sentido , Exoma , Neuropatías Hereditarias Sensoriales y Autónomas/genética , Mutación Missense , Neuronas/metabolismo , Receptor trkA/genética , Adolescente , Secuencia de Bases , Niño , Preescolar , Cromosomas Humanos Par 1 , Consanguinidad , Femenino , Expresión Génica , Genes Recesivos , Neuropatías Hereditarias Sensoriales y Autónomas/diagnóstico , Neuropatías Hereditarias Sensoriales y Autónomas/fisiopatología , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Hipohidrosis/fisiopatología , Discapacidad Intelectual/fisiopatología , Masculino , Modelos Moleculares , Factor de Crecimiento Nervioso/genética , Factor de Crecimiento Nervioso/metabolismo , Neuronas/patología , Fenotipo , Unión Proteica , Estructura Secundaria de Proteína , Receptor trkA/química , Receptor trkA/metabolismo , Arabia Saudita , Conducta Autodestructiva/fisiopatología , Índice de Severidad de la EnfermedadRESUMEN
BACKGROUND: Osteogenesis imperfecta (OI) is an hereditary bone disease in which increased bone fragility leads to frequent fractures and other complications, usually in an autosomal dominant fashion. An expanding list of genes that encode proteins related to collagen metabolism are now recognised as important causes of autosomal recessive (AR) OI. Our aim was to study the contribution of known genes to AR OI in order to identify novel loci in mutation-negative cases. METHODS: We enrolled multiplex consanguineous families and simplex cases (also consanguineous) in which mutations in COL1A1 and COL1A2 had been excluded. We used autozygome guided mutation analysis of AR OI (AR OI) genes followed by exome sequencing when such analysis failed to identify the causative mutation. RESULTS: Two simplex and 11 multiplex families were enrolled, encompassing 27 cases. In three multiplex families, autozygosity and linkage analysis revealed a novel recessive OI locus on chromosome 9q31.1-31.3, and a novel truncating deletion of exon 4 of TMEM38B was identified within that interval. In addition, gonadal or gonadal/somatic mosaic mutations in COL1A1 or COL1A2 and homozygous mutations in recently described AR OI genes were identified in all remaining families. CONCLUSIONS: TMEM38B is a novel candidate gene for AR OI. Future studies are needed to explore fully the contribution of this gene to AR OI in other populations.
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Genes Recesivos , Canales Iónicos/genética , Mutación , Osteogénesis Imperfecta/genética , Arabia , Secuencia de Bases , Colágeno Tipo I/genética , Cadena alfa 1 del Colágeno Tipo I , Consanguinidad , Exones , Femenino , Orden Génico , Homocigoto , Humanos , Lactante , Recién Nacido , Masculino , Osteogénesis Imperfecta/diagnósticoRESUMEN
OBJECTIVE: The Objective Structured Clinical Examination (OSCE) was introduced in undergraduate psychiatry clerkship in 2008. The authors studied the effect of OSCE on the students' performance. METHODS: The â³short caseâ³ (SC) and â³oral examinationâ³ (OE), two of the five components of the previous assessment format, were replaced with the OSCE. Results were compared with those of the 2007 students. RESULTS: The introduction of the OSCE had little impact on the overall scores, but the 2007 students had significantly higher scores on the essay examination and long case, whereas the 2008 group had significantly higher scores on the OSCE (versus the OE for the 2007 group). In comparing the top 10 scoring students from the two classes, the 2007-year students had significantly higher overall scores, both on end-of-course tests and the annual examinations. In particular, the scores for the OSCE exams for the 2008 class were significantly lower than the scores for the OE in the 2007 class. CONCLUSION: The higher scores on OSCE in Year 2008 suggest that students performed better on clinical skills and professional development than recall on the factual-knowledge domains. Since the changes were introduced in the year 2008, the comparison can best be regarded as qualitative, and it is probably too early to judge the impact of the OSCE. Further studies to determine validity of the OSCE are needed.
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Prácticas Clínicas , Educación de Pregrado en Medicina , Evaluación Educacional/estadística & datos numéricos , Psiquiatría/educación , Logro , Australia , Competencia Clínica , Curriculum , Femenino , Humanos , MasculinoRESUMEN
Bruck syndrome (BS) is an autosomal recessive syndromic form of osteogenesis imperfecta (OI) that is characterized by the additional presence of pterygium formation. We have recently shown that FKBP10 previously reported as a novel autosomal recessive OI gene also defines a novel Bruck syndrome locus (BKS3). In this manuscript, we extend our analysis to describe a mutation previously described in isolated OI patients and show that it results in BS phenotype in a Saudi family. More interestingly, we describe a novel FKBP10 mutation that results in isolated OI as well as BS phenotype in the same family. These results, combined with recently published work, confirm that FKBP10 is a bonafide BS locus and lay the foundation for future research into modifiers that underlie the phenotypic heterogeneity of FKBP10 mutations.
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Artrogriposis/genética , Artrogriposis/patología , Osteogénesis Imperfecta/genética , Osteogénesis Imperfecta/patología , Proteínas de Unión a Tacrolimus/genética , Adolescente , Secuencia de Bases , Niño , Femenino , Componentes del Gen , Genes Recesivos , Humanos , Masculino , Datos de Secuencia Molecular , Mutación/genética , Arabia Saudita , Análisis de Secuencia de ADNRESUMEN
BACKGROUND: Assessment of patients' satisfaction with health care services could help to identify the strengths and weaknesses of the system and provide guidance for further development. The study's objectives were to: (i) assess the pattern of satisfaction with hospital care for a sample of people with schizophrenia in Kuwait, using the Verona Service Satisfaction Scale (VSSS-EU); ii) compare the pattern of satisfaction with those of similar studies; and iii) assess the association of VSSS seven domains with a number of variables representing met and unmet needs for care, family caregiver burden, severity of psychopathology, level of psychosocial functioning, socio-demographic characteristics, psychological well-being and objective quality of life. METHODS: Consecutive outpatients in stable condition and their family caregivers were interviewed with the VSSS-EU and measures of needs for care, caregiver burden, quality of life and psychopathology. RESULTS: There were 130 patients (66.1%m, mean age 36.8). While over two-thirds expressed satisfaction with the domains of "overall satisfaction", "professionals' skills", "access", "efficacy", and "relatives' involvement", only about one-third were satisfied with the domains of "information" and "types of intervention". The later two domains were the areas in which European patients had better satisfaction than our patients, while our patients expressed better satisfaction than the Europeans in the domain of "relatives' involvement". In multiple regression analyses, self-esteem, positive and negative affect were the most important correlates of the domains of service satisfaction, while clinical severity, caregiver burden and health unmet needs for care played relatively minor roles. CONCLUSION: The noted differences and similarities with the international data, as well as the predictive power of self-esteem and affective state, support the impression that patients' attitudes towards psychiatric care involve a complex relationship between clinical, personal and socio-cultural characteristics; and that many of the factors that impact on satisfaction with service relate to individual psychological characteristics. The weaknesses in the system, highlighted by the pattern of responses of the participants, indicate possible gaps in the provision of comprehensive psychiatric care in the country and obviate the need for public mental health education and development of services to enhance the quality of care.