Short chain Acyl-CoA dehydrogenase deficiency

Short chain Acyl-CoA dehydrogenase deficiency [SCADD] is a rare fatty acid oxidative disorder (FAOD) inherited as an autosomal recessive pattern. Patients could present with a variety of symptoms, such as hypoglycemia, metabolic acidosis, cyclical vomiting, myopathy and developmental delay or asymptomatic individual. Since the introduction neonatal screening programs, it has been found that majority of the patients with SCADD are asymptomatic at the time of diagnosis. We present this atypical, yet symptomatic case of a patient with confirmed SCADD who presented at the age of 11 months with recurrent chest infections, vomiting and cyanotic episodes. The diagnosis was confirmed with increased ethylmalonic acid [EMA] in urine and molecular genetic analysis, which identified a pathogenic variant c.529T>C [. Trpl77Arg] in axon 5 of AC ADS gene [OMIM 606885; chromosome 12q24.31]. The patient was managed with dietary modifications and referral to a metabolic specialist. Parents were referred for genetic counseling regarding future conception

national oncology center at king hamad university hospital

The modern treatment of a patient with cancer requires great expertise, adequate resources and a multi-disciplinary approach. Much of this approach is derived from the experience of multicenter controlled trials and the focused experience of specialist cancer centers. The experience of institutions such as Memorial Sloan Kettering Cancer Center in New York, Institute Gustave Roussy in Paris and many more has been to the forefront in clinical trials of newer approaches and the introduction of better care. This has developed pari-pasu with significant strides in research and these centers of excellence have improved our understanding of the genetics of cancer and targeted therapy. The degree of specialization within these and other modern cancer centers is such that entire teams are devoted to the management of the patient with specific diseases such as a breast service or a hepatobiliary service etc. This level of specialization is now accepted as the norm and allows the development of unique skills and expertise

Role of buccal fat flap in managing oral submucosal fibrosis

A 24-year-old male diagnosed with advanced stage of oral submucosal fibrosis [OSMF] who did not benefit from repeated injections of intra lesion injections of triamcinolone is reported. The patient complained of severe burning sensation in the mouth with progressive decreased mouth opening over last few months. Clinically, mouth opening was reduced to one finger width. The patient underwent excision of the fibrotic bands in the faucial pillars with coverage of the defect with buccal fat flap to prevent refibrosis. Postoperatively, patient's mouth opening improved to an acceptable level and was followed up for 9 months for recurrence of symptoms

Unilateral choanal atresia

We report a 24-year-old male, known case of right hemifacial microsomia and microphthalmia with right eye prosthesis who presented to ENT clinic with history of unilateral nasal blockage and rhinorrhea since birth. Physical examination and CT scan imaging confirmed the diagnosis of unilateral bony choanal atresia. He had right endoscopic transnasal repair of the choanal atresia and Mitomycin C application. A palatal perforation complicated the procedure which required surgical repair. The patient was discharged on antibiotics and nasal douches. Six months follow-up revealed a patent nasal airway and complete healing of the palatal perforation. No dilatation was required

Benign myoepithelioma of the parotid gland

Myoepithelioma is a rare neoplasm of the salivary gl and. We report a case of myoepithelioma of the parotid gl and in a 30 year old male. The patient was treated by partial parotidectomy and showed no evidence of recurrence after seven years follow up. The tumor was well defined, encapsulated and measured 1.5 cm in diameter. It was exclusively composed of myoepithelial cells with no evidence of epithelial component. The clinical presentation, pathology and management of myoepithelioma are discussed

development of hospital quality assurance activities at the Bahrain Defense Force Hospital

The first eighteen months of the Hospital Quality Assurance Programme at the Bahrain Defence Force Hospital are described, including the goals of the programme, problems encountered and future plans. The increasing use of litigation in Bahrain to solve problems related to patient care presents a strong stimulus to support such a hospital Q.A. programme with its emphasis on thorough and accurate documentation in the patient files, as well as hospital monitoring activities which promote quality patient care

Surgical treatment of snoring in adults by uvulopalatopharyngoplasty [UPPP]

Snoring, in addition to its obvious social consequences, is clearly associated with significant pathophysiological changes that may be detrimental to the patient. Uvulopalatopharyngoplasty [UPPP] is an effective surgical treatment for such patients. This report describes the results obtained with this technique in nine patients. It is concluded that patients with loud snoring can be successfully treated by this procedure

Removal of bronchial foreign body using dormia basket: a case report

An eight-month-old infant was presented with respiratory obstruction caused by a foreign [habat-khadra nut] in the right main stem bronchus. This was successfully retrieved using a Dormia basket while performing rigid bronchoscopy

Repair of septal perforation

One case of Septal Perforation produced by Silver Nitral application has been studied. The literature has been reviewed and the new method of closure of the septal perforation [using temporal fascia] has been employed