Liberalisation, Law and Development

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Pain from a Bullet Lingers on: An Uncommon Case of Lead Toxicity

Lead toxicity from a retained bullet as a cause for abdominal pain is rarely considered. Given its unpredictable latent period and nonspecific clinical symptoms, such cases are difficult to diagnose but may be fatal if unrecognized. We present the case of a 48-year-old man who presented with complaints of abdominal pain, weight loss and constipation. His past history was significant for a gunshot wound to the left hip about 20 years before. Radiographic studies confirmed the same with the presence of numerous intra-articular bullet fragments and a calcified hemarthrosis surrounding the left femoral head. Blood lead levels were elevated following which the patient was started on chelation therapy with succimer which resulted in symptomatic improvement. The aim of this paper is to highlight the importance of considering lead toxicity from a retained bullet as a cause of abdominal pain and to review the relevant literature

Next generation sequencing (NGS) to improve the diagnosis and management of patients with disorders of sex development (DSD).

Disorders of sex development (DSDs) are a diverse group of conditions where the chromosomal, gonadal or anatomical sex can be atypical. The highly heterogeneous nature of this group of conditions often makes determining a genetic diagnosis challenging. Prior to next generation sequencing (NGS) technologies, genetic diagnostic tests were only available for a few of the many DSD associated genes, which consequently had to be tested sequentially. Genetic testing is key in establishing the diagnosis, allowing for personalised management of these patients. Pinpointing the molecular cause of a patient's DSD can significantly impact patient management by informing future development needs, altering management strategies and identifying correct inheritance pattern when counselling family members. We have developed a 30 gene NGS panel, designed to be used as a frontline test for all suspected cases of DSD (both 46,XX and 46,XY cases). We have confirmed a diagnosis in 25 of the 80 patients tested to date. Confirmed diagnoses were linked to mutations in AMH, AMHR2, AR, HSD17B3, HSD3B2, MAMLD1, NR5A1, SRD5A2 and WT1 which have resulted in changes to patient management. The minimum diagnostic yield for patients with 46,XY DSD is 25/73. In 34/80 patients only benign or likely benign variants were identified, and in 21/80 patients only variants of uncertain significance, (VOUS) were identified, resulting in a diagnosis not being confirmed in these individuals. Our data supports previous studies, that an NGS panel approach is a clinically useful and cost effective frontline test for patients with DSDs