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2.
Oman Med J ; 27(5): 396-401, 2012 Sep.
Article in English | MEDLINE | ID: mdl-23074550

ABSTRACT

OBJECTIVE: This research attempted to explore the public healthcare providers understanding the quality dimensions and patient priorities in Oman. It also addresses the issue of risks confronting health professionals in management without "a customer focused" approach. METHODS: A descriptive study was carried out using a self-administered questionnaire distributed around two tertiary public hospitals. A total of 838 respondents from several specialties and levels of hierarchy participated in the study. The data was analyzed to compare the perception of two groups; the group of junior and frontline staff, as well as of managers and senior staff involved in management. RESULTS: The results showed that 61% of the junior and frontline staff, and 68.3% of the senior staff and managers think that cure or improvement in overall health is the single most important quality dimension in healthcare. Both groups perceive that technical dimensions have greater importance (to patients) over interpersonal aspects such as communication with the exception of dignity and respect. There was no significant difference between the perception of the managers and senior staff vis-à-vis the perception of junior and frontline staff on the importance of technical dimensions and the interpersonal aspects of service quality. Despite the proven contribution of empathy to patient satisfaction, it was ranked by both groups as the least important among the dimensions examined. CONCLUSION: The findings of this research are therefore informative of the need to implement strategies that deal effectively with such attitudes and create the platform and programs that reinforce the culture of good quality service amongst healthcare providers, managers in particular, and to improve patient satisfaction.

4.
Clin Dysmorphol ; 19(4): 198-201, 2010 Oct.
Article in English | MEDLINE | ID: mdl-20577083

ABSTRACT

Hereditary congenital facial paresis is a rare syndrome of isolated facial nerve palsy causing facial asymmetry and ptosis. Most described cases follow an autosomal dominant pattern of inheritance. It differs from Moebius syndrome, which is usually sporadic and associated with the involvement of other cranial nerves, commonly the abducens nerve in addition to orofacial and limb malformations and defects of the musculoskeletal system. We present three patients from the same family with features of congenital hereditary facial paresis. Facial asymmetry and facial weakness were the most remarkable findings. High-resolution imaging showed both facial nerves to be present but symmetrically and markedly hypoplastic with no other structural abnormality in the brainstem. This syndrome has been previously mapped to chromosome 3q21-22 but no gene has been identified as yet.


Subject(s)
Facial Paralysis , Adult , Child, Preschool , Facial Paralysis/congenital , Facial Paralysis/genetics , Facial Paralysis/pathology , Female , Humans , In Situ Hybridization, Fluorescence , Magnetic Resonance Imaging , Male
5.
Fam Cancer ; 9(3): 443-7, 2010 Sep.
Article in English | MEDLINE | ID: mdl-20119652

ABSTRACT

Carney triad is a usually sporadic association of pulmonary chondroma, gastrointestinal stromal tumours, and paraganglioma. The majority of patients have two of these tumours, the gastric and pulmonary tumours being the most common combination. Carney Stratakis syndrome is an association of familial paraganglioma and gastric stromal sarcoma and it is considered to be a distinct condition from Carney triad as it is dominantly inherited and not associated with pulmonary chondroma. We report two unrelated patients each with two components of Carney triad. A pathological mutation in succinate dehydrogenase subunit B gene was identified in one and a variant in the same gene was identified in the other. This report demonstrates the difficulty in distinguishing between Carney triad and Carney Stratakis syndrome due to the rarity of the individual components. The fact that most patients with Carney triad have only two components of the Triad, and the long interval often seen between the occurrence of the first and the second component makes it difficult to differentiate confidently between the two conditions. Molecular information should improve the diagnosis of Carney triad.


Subject(s)
Carney Complex/genetics , Carney Complex/pathology , Succinate Dehydrogenase/genetics , Adrenal Gland Neoplasms/genetics , Adrenal Gland Neoplasms/pathology , Adult , Carcinoma, Basal Cell/genetics , Carcinoma, Basal Cell/pathology , Chondroma/genetics , Chondroma/pathology , Female , Gastrointestinal Stromal Tumors/genetics , Gastrointestinal Stromal Tumors/pathology , Humans , Lung Neoplasms/genetics , Lung Neoplasms/pathology , Male , Middle Aged , Paraganglioma/genetics , Paraganglioma/pathology , Pheochromocytoma/genetics , Pheochromocytoma/pathology , Skin Neoplasms/genetics , Skin Neoplasms/pathology
6.
Fam Cancer ; 9(2): 239-43, 2010 Jun.
Article in English | MEDLINE | ID: mdl-19967458

ABSTRACT

Hereditary leiomyomatosis and renal cell cancer is a hereditary cancer syndrome in which affected individuals are at risk for cutaneous and uterine leiomyomas, and renal cancer. Previous reports have stressed the aggressiveness of the renal tumours, often with early metastasis, despite small primary tumour size. Almost all the previously reported patients were adults, and different studies showed variability in penetrance for the renal tumours. We report a patient in whom renal cancer was detected at the age of 11 years at his first routine screening imaging after he was found to carry a fumarate hydratase gene mutation (c.1189G > A) transmitted from his mother. This report serves to emphasize the need to improve guidelines for screening of at risk individuals, including the necessity for predictive genetic testing and early institution of tumour surveillance in childhood.


Subject(s)
Carcinoma, Renal Cell/complications , Early Diagnosis , Kidney Neoplasms/diagnosis , Leiomyoma/etiology , Leiomyomatosis/complications , Neoplastic Syndromes, Hereditary/physiopathology , Carcinoma, Papillary/etiology , Carcinoma, Renal Cell/genetics , Child , Female , Genetic Counseling/psychology , Genetic Predisposition to Disease/epidemiology , Humans , Kidney Neoplasms/genetics , Kidney Neoplasms/physiopathology , Leiomyomatosis/genetics , Male , Mutation , Neoplastic Syndromes, Hereditary/genetics , Pedigree , Uterine Neoplasms/genetics , Uterine Neoplasms/physiopathology
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