Irish journal of medical science
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Medullary thyroid cancer (MTC) accounts for only 4% of thyroid carcinomas but 15% of thyroid cancer deaths. MTC is a tumour of the calcitonin secreting parafollicular C cells in the thyroid which can occur sporadically or be hereditary in multiple endocrine neoplasias type 2 syndromes due to germline RET mutations. Sporadic forms of MTC can also be caused by mutations in the RET protooncogene. ⋯ Recently, researchers have been exploring non-surgical options including external beam radiotherapy and multikinase inhibitors such as vandetanib and cabozantinib for the treatment of MTC. Surgical management of MTC remains controversial and varies significantly dependent on the extent of disease. Chemotherapeutic options have undetermined effects on survival to date.
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Advanced colorectal cancer (CRC) is frequently a lethal disease. Mutations in the BRAF gene is a key driver in CRC pathogenesis and confers a poor prognosis. To date, Irish data on this molecular subtype of CRC is lacking. ⋯ BRAFMUT advanced colorectal cancer was associated with significantly reduced overall survival in this Irish CRC population. Knowledge of mutation status should now be considered standard of care and should dictate management. Surgeons should be aware of this genetic signature as the natural history of the disease may mitigate against an aggressive surgical strategy. A prospective study should be conducted to further corroborate these findings.
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In this study, we aimed to evaluate and compare the clinical characteristics, laboratory findings, and outcomes of hospitalized patients with and without diabetes along with poorly vs. well-controlled diabetes. ⋯ Patients with diabetes and comorbidities, apart from the glycemic control, should receive intensive monitoring and disease management.
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Microcephaly is a prominent feature of patients with primary autosomal recessive microcephaly 2 (MCPH2) caused by mutations in the WD Repeat Domain 62 (WDR62; OMIM: 613,583). ⋯ Herein, we identified a novel homozygous missense variant in the WDR62 in two patients with MCPH2. Vertical nystagmus and sensorineural hearing loss were detected as novel neurological findings. The present study expands the phenotype and genotype spectrum of MCPH2.
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The commonest reason for admissions to hospital in Ireland annually for patients with a neurological condition is due to convulsions/epilepsy and their care is often managed by Internal Medicine physicians. ⋯ Access to expert neurology review in a Model Three hospital in Ireland not only improved the provision of safe, timely, and equitable care but also significantly reduced the LOS for patients admitted with seizures.