Management of complete intra-articular distal femur and patellar fractures in an achondroplastic young adult; small is challenging' revisited: a case-report.

BACKGROUND: People with achondroplasia exhibit distinct physical characteristics, but their cognitive abilities remain within the normal range. The challenges encountered during surgical procedures and perioperative care for achondroplastic individuals, are underrepresented in the existing literature. CASE PRESENTATION: In this report, the management of a 26-year-old North-African achondroplastic male is highlighted. The patient suffered a complete intra-articular distal femur fracture (AO/OTA 33-C1) and an ipsilateral patella fracture (AO/OTA 34-C1). The patient's unusual anatomical variations and the lack of suitable orthopedic implants posed significant surgical challenges, particularly in the context of a resource-limited developing country. Facial and spinal deformities, which are common in patients with achondroplasia, further complicated the anesthetic approach. CONCLUSIONS: The limited information on operative management of fractures in achondroplastic patients necessitated independent decision-making and diverging from the convenient approach where clear guidance is available in the literature.

Hyper-responsiveness to warfarin in a young patient with the VKORC1 -1639GA/CYP2C9*1*46 genotype: a case report.

BACKGROUND: Warfarin is the most widely used oral anticoagulant; nevertheless, dosing of warfarin is problematic for clinicians worldwide. Inter-individual variability in response to warfarin is attributed to genetic as well as non-genetic factors. Pharmacogenomics studies have identified variants in CYP2C9 and VKORC1 genes as significant predictors of warfarin dose, however, phenotypes of rare variants are not well characterized. CASE PRESENTATION: We report a case of hyper-responsiveness to warfarin in a 22-year-old outpatient with Crohn's disease who presented with a swollen, red, and painful left calf. Deep venous thrombosis (DVT) in the left lower extremity was confirmed via ultrasonography, and hence, anticoagulation therapy of heparin and concomitant warfarin was initiated. Warfarin dose of 7.5 mg/day was estimated by the physician based on clinical factors. Higher than the expected international normalized ratio (INR) value of 4.5 necessitated the reduction of the warfarin dose to 5 and eventually to 2.5 mg/day to reach a therapeutic INR value of 2.6. Pharmacogenetic profiling of the VKORC1 -1639G > A and CYP2C9 *2, *3, *4, *5, *8, *14, *20, *24, *26, *33, *40, *41, *42, *43, *45, *46, *55, *62, *63, *66, *68, *72, *73 and *78 revealed a VKORC1-1639GA/CYP2C9*1*46 genotype. The lower catalytic activity of the CYP2C9*46 (A149T) variant was previously reported in in vitro settings. CONCLUSIONS: This is the first report on a case of warfarin hyper-responsive phenotype of a patient with the heterozygous CYP2C9*1*46 polymorphism.

Papillary follicular variant thyroid cancer in a malignant struma ovarii: a report of a rare case.

Summary: A 33-year-old female presented in 2013 with left flank pain. Ultrasound and MRI pelvis showed a complex mass 9 × 7 cm arising from the left ovary suggestive of ovarian torsion. She underwent a laparoscopic cystectomy, but the patient was lost to follow-up. Three years later, she presented with abdominal distension. Ultrasound and CT scan revealed a solid left ovarian mass with ascites and multiple peritoneal metastasis. Investigations showed elevated CA 125, CA 19-9. Ovarian malignancy was suspected. She underwent total abdominal hysterectomy and bilateral salpingo-oophorectomy on November 2016. The histopathology confirmed a well-differentiated thyroid cancer of ovarian origin with features of a papillary follicular variant without evidence of ovarian cancer and the thyroglobulin (Tg) level was elevated, more than 400 consistent with the diagnosis of malignant struma ovarii. The follow-up post-surgery showed normalization of CA 125, CA 19-9 and Tg. The patient underwent total thyroidectomy on January 2017. The histology was benign excluding thyroid cancer metastases to the ovary. She was started on thyroxine suppression, following which she received two ablation doses 131iodine (131I) each 5.3 GBq. The Tg remains slightly elevated at less than 10. 131I WBS showed no residual neck uptake and no distant avid metastasis. She was planned for molecular analysis which may indicate disease severity. We describe a case of malignant struma ovarii with widespread metastatic dissemination and a good response to surgery and 131I treatment without recurrence after 5 years of follow-up. The Tg remains slightly elevated indicating minimal stable residual disease. Learning points: Malignant struma ovarii is a rare disease; diagnosis is difficult and management is not well defined. Presentation may mimic advanced carcinoma of the ovary. Predominant sites of metastasis are adjacent pelvic structures. Thyroidectomy and 131iodine therapy should be considered. The management should be similar to that of metastatic thyroid cancer.

MicroRNAs associated with initiation and progression of colonic polyp: a feasibility study.

INTRODUCTION: Colorectal cancer is the third most common neoplasm worldwide. The sequential progression of colorectal cancer from adenoma to carcinoma highlights that opportunities exist to alter the natural course of disease progression. The aim of this study was to characterize the expression levels of microRNAs linked to development and progression of colorectal neoplasia. Patient, Design, Patients & Methods: MicroRNA expression signature was developed for RNA extracted from freshly frozen tumour and adjacent normal tissue (n = 5). Based on differential expression and literature search, hsa-miR-135b was selected for further characterisation in different types of colonic polyps and cancer tissue. Formalin Fixed Paraffin Embedded tissue were studied for miRNA expression, KRAS, BRAF, PIK3CA mutations, and immuno-histochemistry for APC and p53 proteins for normal colon (n=11), hyperplastic polyps (n=11), high grade adenomas (n=10), low grade adenomas (n=34) and adenocarcinoma (n=13). RESULTS: CRC tissue had significantly higher expression levels of hsa-miR-135b (p=0.0017) than their adjacent paired normal tissues (mean increase=8.90 fold, 95% CI=2.98-26.50). Linear trend analysis showed a progressive increase in expression level of hsa-miR-135b across normal epithelium, low grade adenomas, high grade adenomas and carcinomas (p=0.0007, R squared 0.16, slope -0.35). KRAS mutant colonic polyps and cancer tissue had significantly higher (3.04 fold, 95% CI=1.23-7.46) expression levels of hsa-miR-135b compared to polyps and cancers with non mutant KRAS gene (p=0.001). Whereas, hsa-miR-135b expression levels were significantly lower in colonic polyp and cancer tissue stained positively for APC proteins (p<0.001). CONCLUSION: There is a progressive increase in expression levels of hsa-miR-135b correlating with the sequential progression of normal epithelium to adenoma and carcinoma. Expression levels of hsa-miR-135b correlate with expression of APC proteins in colorectal tissue suggesting its role in tumour initiation. HIGHLIGHTS: This study highlights the role of tissue microRNAs for their role in the development of colorectal carcinoma. Identification of tissue specific microRNAs will help is designing microRNAs based gene therapies to control the development and progression of colonic neoplasia.

Catecholamine-secreting carotid body paraganglioma: successful preoperative control of hypertension and clinical symptoms using high-dose long-acting octreotide.

UNLABELLED: A 48-year-old hypertensive and diabetic patient presented with a 10-year history of progressive right facial pain, tinnitus, hearing loss, sweating, and palpitations. Investigations revealed a 5.6 cm vascular tumor at the carotid bifurcation. Her blood pressure (BP) was 170/110, on lisinopril 20 mg od and amlodipine 10 mg od and 100 U of insulin daily. A catecholamine-secreting carotid body paraganglioma (CSCBP) was suspected; the diagnosis was confirmed biochemically by determining plasma norepinephrine (NE) level, 89 000 pmol/l, and chromogranin A (CgA) level, 279 µg/l. Meta-iodobenzylguanidine and octreotide scanning confirmed a single tumor in the neck. A week after giving the patient a trial of octreotide 100 µg 8 h, the NE level dropped progressively from 50 000 to 25 000 pmol/l and CgA from 279 to 25 µg/l. Treatment was therefore continued with labetalol 200 mg twice daily (bid) and long-acting octreotide-LA initially using 40 mg/month and later increasing to 80 mg/month. On this dose and with a reduced labetalol intake of 100 mg bid, BP was maintained at 130/70 and her symptoms resolved completely. CgA levels returned to normal in the first week and these were maintained throughout the 3 month treatment period. During tumor resection, there were minimal BP fluctuations during the 10 h procedure. We conclude that short-term high-dose octreotide-LA might prove valuable in the preoperative management of catecholamine-secreting tumors. To the best of our knowledge, this is the first report on the successful use of octreotide in a CSCBP. LEARNING POINTS: The value of octreotide scanning in the localization of extra-adrenal pheochromocytoma.Control of catecholamine secretion using high-dose octreotide.This is a report of a rare cause of secondary diabetes and hypertension.

Mucinous breast cancer with solitary metastasis to humeral head: a case report.

Breast cancer is the most common cause of metastatic deposits in the skeleton, and bone is the most common site of recurrence of breast cancer. Breast cancer metastasis most commonly affects the spine, ribs, pelvis, and proximal long bones; however, only 3.5% of breast cancer patients develop long-bone metastases. The humerus is the most common upper-extremity site for bony metastasis, and pathologic fractures can result. The patient in the current study presented with breast cancer and discovered to have humeral head metastasis during initial workup. The dilemma was in investigation the modality to confirm humeral head metastasis as there are many differential diagnoses with similar findings. After staging workup, the patient was treated with neoadjuvant chemotherapy followed by modified radical mastectomy and radiotherapy of the chest wall and the shoulder. The lesion in humerus was well healed.

Multiple Bone Metastases in a Patient with Differentiated Thyroid Cancer (DTC): Complete resolution following thyroidectomy and four ablation doses of I-131.

Multiple bone metastases from a differentiated thyroid cancer are usually incurable. We report the case of a young Omani woman who presented with 8 discrete skeletal lesions three years after a total thyroidectomy. Following four ablation doses of I-131 she has remained in clinical and biochemical remission for over five years. An extraordinary aspect of this case was the persistent refusal of her husband to use contraception either for himself or his wife. This resulted in her treatment being delayed for more than 6 years during which time the patient delivered and breastfed four additional healthy babies.

Absence of Left Pulmonary Artery: Case report.

Agenesis and hypoplasia of left-sided pulmonary artery anomalies have been infrequently reported. The majority of cases are diagnosed in childhood, but occasionally some asymptomatic cases are first recognised in adulthood when detected by an abnormal chest radiograph. We report a twenty-one year old female patient with left pulmonary artery agenesis who was asymptomatic till adulthood, but presented with mild respiratory symptoms and an abnormal chest X-ray. A contrast enhanced computerised tomography (CECT) scan helped to establish the diagnosis. Early diagnosis of this condition is essential to avert potentially lethal complications.

Graves' Disease following Interferon Therapy for Chronic Hepatitis C Infection.

We describe the first case of Graves' disease occurring at Sultan Qaboos University Hospital, Oman, in a patient who was under treatment with interferon alfa for HCV infection. INF-α is now being widely used to treat patients with a variety of disorders including infection with hepatitis C virus. Clinical thyroid disease, hypo and hyperthyroidism can occur in up to 15% of patients. We emphasize the need for thyroid function screening before and during therapy to identify patients early in the course of their disease..

Tc-99m tetrofosmin scintimammography for the detection of recurrent breast cancer in a patient with equivocal mammography study.

This is a case report describing a patient at Sultan Qaboos University Hospital, Oman, with recurrent local breast cancer and axillary lymph node metastasis. The cancer was detected with (99)Tc-(m) tetrofosmin scintimammography after an equivocal mammography study.

Frontotemporal dementia in Oman: cognitive behavioural profile and neuroimaging characteristics; a prospective hospital-based study.

Frontotemporal dementia is increasingly recognised as an important cause of early-onset dementia and is considered to be the second commonest neurodegenerative dementia after Alzheimer's disease. We describe the cognitive, behavioural profile and neuroimaging characteristics of 6 patients with frontal variant of Frontotemporal dementia that were evaluated at the cognitive behavioural clinic at this tertiary referral teaching hospital. All patients underwent clinical, neuropsychological, structural/functional neuroimaging, and laboratory evaluations. The male to female ratio was 1:1; mean age of onset was 54 years, and the mean duration of symptoms were 30 months. The mean scores for Addenbrooke's cognitive examination, Frontal Assessment Battery, and Mini-Mental State Examination were 70.5, 6.33 and 23.6 respectively. The mean VLOM ratio was 2.04. MRI revealed significant asymmetrical regional frontal/temporal atrophy supplemented by the evidence of circumscribed hypoperfusion in SPECT imaging. We conclude that a combination of behavioural and cognitive assessment using short bedside tests, along with structural and functional neuroimaging does facilitate early identification, and increase the diagnostic specificity of Frontotemporal dementia.

Isolated agenesis of the gallbladder.

We report a rare case of agenesis of the gallbladder, which was misdiagnosed as cholecystitis. This is the first reported case from the Middle East. Despite advances in biliary imaging, the diagnosis is usually made at surgery. Like most patients, our patient became asymptomatic after the surgery. Extensive dissection to exclude the presence of gallbladder in an ectopic site is discouraged.

Radioactive iodine in the treatment of Graves' disease.

OBJECTIVES: This study was performed to evaluate the efficacy of radioactive iodine 131I therapy of Graves' hyperthyroidism at Sultan Qaboos University Hospital, Oman and to determine the optimal dose of 131I needed to achieve the euthyroid or hypothyroid status. METHODS: The medical records of 366 patients with Graves hyperthyroidism who received a single dose of 131I at Sultan Qaboos University Hospital, Oman between 1991 and 1999 were reviewed. The diagnosis was based on clinical, biochemical grounds and 99mTc thyroid scintigraphy. The patients were followed up for a minimum period of 12 months. For the analysis, the patients were divided into 6 groups according to the 131I dose administered: Dose one (350-399), dose 2 (400-449), dose 3 (450-499), dose 4 (500-549), dose 5 (550-599) and dose 6 (> or = 600) MBq. RESULTS: Fifty-eight percent of all the patients were hypothyroid after 3 months. Three hundred and twenty two patients (88%) were treated by a single dose of 131I in 12 months (85.5% hypothyroid and 2.5% euthyroid). Forty-one patients (11.2%) required a 2nd 131I dose and only 3 patients required 3 doses of 131I. The best cure rate (93%) was observed in group dose 5 (574.0 +/- 16.4 MBq) which however, was not significantly different from other dosage levels. The female to male ratio was 2:1 and the cure rates were not gender or age related. CONCLUSION: Treatment of Graves' hyperthyroidism from a single 131I dose is our aim, rather than avoidance of hypothyroidism. Our results indicate that cure rates are higher with larger doses of 131I except in group dose 6 (special category of patients). In the future, fixed doses would be adopted in our radioactive iodine treatment practice guidelines. As the majority of our patients were hypothyroid at 3 months regular monthly follow-up is essential. Whenever appropriate, physicians are encouraged to consider early referral of Graves' hyperthyroidism patients for radioactive iodine treatment as it is cheap, effective, easy to administer and free from serious side effects.

Splenic function in Omani children with sickle cell disease: correlation with severity index, hemoglobin phenotype, iron status, and alpha-thalassemia trait.

The prevalence of functional asplenia in Omani children with sickle cell disease (SCD) has not been previously defined. In this study, the authors aim to compare the natural history of splenic dysfunction in their patients to other reports. The splenic function was studied in 72 Omani patients with sickle cell disease (50 homozygous for hemoglobin S (HbS-S), 11 double heterozygotes for HbS and beta(0)-thalassemia (HbS-beta(0)-thal), 5 HbS-beta(+)-thal, 5 patients with hemoglobin S-D disease, and 1 child with hemoglobin S oman trait) aged 4.8-16 years, using (99m)Tc-labeled tin colloid scintigraphy. The study revealed 4 groups according to their colloid uptake: group I included 20 patients (28%) with normal splenic function; group II, 6 patients (8%) with mild hyposplenism; group III, 20 (28%) with severe hyposplenism; and group IV, 26 (36%) patients with functional asplenia. Overall, more than 60% of them had preserved splenic function. Except for HbS-beta(+) patients, the developmental pattern of hyposplenism was not different among the different Hb phenotypes. Factors associated with preservation of spleen function in these patients were larger splenic size (p < .01), less clinical severity (p < .05), lower MCH (p < .01), higher HbF (p < .001), and presence of alpha-thalassemia trait (p < .05).

Are scintigraphy and ultrasonography necessary before fine-needle aspiration cytology for thyroid nodules?

OBJECTIVE: To evaluate the efficacy of scintigraphy, ultrasound and fine-needle aspiration in thyroid nodules and to establish the best diagnostic pathway in detecting thyroid cancer. METHOD: Two hundred and sixteen patients with thyroid nodules were examined using high-resolution ultrasonography, 99mTc thyroid scintigraphy and ultrasound-guided fine-needle aspiration. Of these, 113 patients subsequently underwent thyroidectomy. The remaining 103 were followed up for two years without any evidence of malignancy. RESULTS: Cytopathology classified 71% of the aspirate as benign, 3% as positive for malignancy, 21% as suspected neoplasia and 5% as unsatisfactory. Fine-needle aspiration cytology had a sensitivity of 87.5% and specificity of 80%. On ultrasound 33% of malignant nodules were hypo-echoic and on scintigraphy 16% of solitary cold nodules were malignant. Neither test could reliably diagnose thyroid cancer. CONCLUSION: Ultrasound-guided fine-needle aspiration cytology should be the first test performed in euthyroid patients with a thyroid nodule. Scintigraphy and ultrasound imaging should be reserved for follow-up studies and patients who have suppressed levels of thyroid stimulating hormone.