IntroductionUnexplained hyperammonemic coma in adults can be a medical dilemma in the absence of triggering factors and known comorbidities. Ornithine transcarbamylase deficiency presents most commonly with hyperammonemic coma. Although a rare disorder, ornithine transcarbamylase deficiency is the most common of the urea cycle disorders, which can occur both in children, and less commonly, in adults. The urea cycle disorder is usually acquired as an X-linked trait, and very rarely, similar to our reported case, may be acquired as a “new” mutation. Mutations that lead to later-onset presentations may lead to life-threatening disease and may be unrecognized, particularly when the first clinical symptoms occur in adulthood.Case presentationWe report the case of a previously healthy 17-year-old white man who developed a prolonged seizure and a rapid decline in mental status leading to coma over a 3-day period. Analysis of the OTC gene showed a 119G variant, which was identified in exon 2 of the OTC gene by sequencing.ConclusionsA diagnosis of ornithine transcarbamylase deficiency should be considered in adult patients who present with unexplained hyperammonemic coma and for all adult patients presenting with cryptogenic new-onset seizure and laboratory finding of elevated blood ammonia levels. This reported case highlights the importance of early recognition of this potentially reversible cause of life-threatening encephalopathy, as timely recognition and appropriate treatment can be lifesaving.
Introduction: Thyroid cancer is the sixth most common type of cancer in the UAE. It has been observed that the incidence of thyroid cancer has been steadily increasing worldwide. However, limited studies about thyroid cancer has been reported from the Arab gulf region.
Objective: The objective of this study was to describe the clinical and surgical characteristics of patients with thyroid cancer in the UAE population.
Methods: Retrospective analysis was performed on all adult patients attending thyroid cancer clinic at Sheikh Khalifa Medical City (SKMC) in Abu Dhabi, UAE over ten years from 2008 to 2018. All patients with a confirmed histological diagnosis of thyroid cancer who had surgical intervention with long-term follow up data on cancer outcome have been included. Categorical variable analysis and descriptive analysis were used to identify factors associated with increased risk of developing thyroid cancer.
Results: Total number of 203 patients with confirmed diagnosis of thyroid cancer were included. Most of the patients were female (72.9 %, n=148). Mean age at the time of diagnosis was 40±13 years. Papillary thyroid carcinoma was the most common thyroid cancer observed (95.6%, n=194) followed by follicular thyroid carcinoma (2%), medullary thyroid carcinoma (1.5%) and mixed medullary-papillary (0.9%). Classical variant and follicular variant of papillary thyroid carcinoma were the two most commonly observed histological subtypes of thyroid cancer with prevalence of 54.7 % and 21.7 % respectively. 91.1% (n=185) of patients had total thyroidectomy and 8.9%(n=18) had hemithyroidectomy. Female gender has been observed to be associated with higher prevalence of thyroid cancer (OR 2.78, 95% CI 1.18–4.50, p=0.001). Smoking status did not show any significant association with developing thyroid cancer. Recurrent thyroid cancer was observed in 9.4%(n=19). Most of recurrence happened as local metastasis 89.5%(n=17). The mean time of recurrence was 24 months (range, 7–64 months).
Conclusions: Our data demonstrate that in the UAE population, papillary thyroid cancer is the most common type of thyroid cancer. Female gender is observed to be associated with higher risk of thyroid cancer. Recurrence rate of thyroid cancer noted to be 9.4%. Further studies are required to investigate factors associated with recurrence and cancer free survival rates.
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