Clinical management and outcome of head and neck paragangliomas (HNPGLs): A single centre retrospective study.

CONTEXT: Head and neck paragangliomas (HNPGLs) are rare, usually benign, slow-growing tumours arising from neural crest-derived tissue. Definitive management pathways for HNPGLs have yet to be clearly defined. OBJECTIVE: To review our experience of the clinical features and management of these tumours and to analyse outcomes of different treatment modalities. METHODS: Demographic and clinical data were obtained from The Northern Ireland Electronic Care Record (NIECR) as well from a prospectively maintained HNPGL database between January 2011 through December 2023. RESULTS: There were 87 patients; 50 females: 37 males with a mean age of 52.3 ± 14.2 years old (range 17-91 years old). 58.6% (n = 51) of patients had carotid body tumours, 25.2% (n = 22) glomus vagal tumours, 6.8% (n = 6) tumours in the middle ear, 2.2% (n = 2) in the parapharyngeal space and 1.1% (n = 1) in the sphenoid sinus. 5.7% (n = 5) of patients had multifocal disease. The mean tumour size at presentation was 3.2 ± 1.4 cm (range 0.5-6.9 cm). Pathogenic SDHD mutations were identified in 41.3% (n = 36), SDHB in 12.6% (n = 11), SDHC in 2.2% (n = 2) and SDHA in 1.1% (n = 1) of the patients. Overall treatment modalities included surgery alone in 51.7% (n = 45) of patients, radiotherapy in 14.9% (n = 13), observation in 28.7% (n = 25), and somatostatin analogue therapy with octreotide in 4.5% (n = 4) of patients. Factors associated with a significantly higher risk of recurrence included age over 60 years (p = .04), tumour size exceeding 2 cm (p = .03), positive SDHx variants (p = .01), and vagal and jugular tumours (p = .04). CONCLUSION: The majority of our patients underwent initial surgical intervention and achieved disease stability. Our results suggest that carefully selected asymptomatic or medically unfit patients can be safely observed provided lifelong surveillance is maintained. We advocate for the establishment of a UK and Ireland national HNPGL registry, to delineate optimal management strategies for these rare tumours and improve long term outcomes.

Congenital hypothyroidism in Northern Ireland: 40 years' experience of national screening programme.

OBJECTIVE: The incidence of congenital hypothyroidism (CHT) has progressively increased in several regions around the world but has yet to be evaluated in Northern Ireland (NI). CHT screening programme was introduced in NI in 1980 and has had a relatively unchanged protocol since its inception. The purpose of the study was to evaluate the incidence of CHT in NI from 1981 to 2020 and to explore possible contributing factors to any changes seen over the 40-year period. DESIGN: This was a retrospective database review of children diagnosed with CHT in NI between 1981 and 2020. Data was collected from the patients' medical (paper and electronic) records, including epidemiological, clinical, laboratory, and radiological features as well as outcomes at 3 years. RESULTS: Of 800,404 new-borns who were screened for CHT in NI between January 1981 and March 2020, 471 were diagnosed with CHT. There was a steady and significant increase in incidence of CHT over time with an incidence of 26 cases per 100,000 livebirths in 1981 versus 71 cases per 100,000 in 2019 (p < .001). Of these 471, 77 new-borns (16%) were born preterm. The incidence of CHT was observed twice as much in female compared to male new-borns. Diagnostic imaging including radioisotope uptake and thyroid ultrasound scans were performed in 143 cases (30%). Of these, 101 (70%) cases had thyroid dysgenesis and 42 (30%) cases had thyroid dyshormonogenesis. There were 293 (62%) of 471 patients had confirmed permanent CHT, and 90 patients (19%) had transient CHT. Over that period at least 95% of the population were recorded as having United Kingdom/Ireland as country of birth. CONCLUSION: Our findings demonstrate a nearly tripling of the CHT incidence observed over the last 40 years. This is against a background of a relatively stable population demographics. Future research should focus on the underlying cause(s) of this condition which may include changing environmental exposures in utero.

Successful living kidney donation from a patient with a Gitelman's syndrome.

Living kidney donation from Gitelman's syndrome (GS) patients remains very rare. Long-term renal prognosis of donor and recipient patients remains unknown. We report a 67-year-old man with GS, harbouring a mutation of the SLC12A3 gene, who donated his kidney for transplant. Five years post-transplantation, his clinical condition and biochemical parameters remained stable with close monitoring and follow-up. Patients with non-complicated GS can be considered eligible to donate their kidney for transplant.

Acute respiratory distress syndrome in a case of diabetic ketoacidosis requiring ECMO support.

SUMMARY: Acute respiratory distress syndrome (ARDS) is a rare but life-threatening complication of diabetic ketoacidosis (DKA). We present the case of a young female, with no previous diagnosis of diabetes, presenting in DKA complicated by ARDS requiring extra corporeal membrane oxygenation (ECMO) ventilator support. This case report highlights the importance of early recognition of respiratory complications of severe DKA and their appropriate management. LEARNING POINTS: ARDS is a very rare but life-threatening complication in DKA. The incidence of ARDS remains unknown but less frequent than cerebral oedema in DKA. The mechanism of ARDS in DKA has multifactorial aetiology, including genetic predisposition. Early recognition and consideration of rare pulmonary complication of DKA can increase survival rate and provide very satisfactory outcomes. DKA patients who present with refractory ARDS can be successfully rescued by ECMO support.

Retrospective analysis of older travellers attending a specialist travel health clinic.

BACKGROUND: Older people represent a significant proportion of overseas travellers. The epidemiology of older international travellers is not well described in the literature. This study aims to identify demographics, travel characteristics and the medical profile of older travellers seeking pre-travel health advice in a specialist travel medicine clinic. METHODS: Records of travellers aged 60 years and older attending the Tropical Medical Bureau clinic in Galway, Ireland between 2014 and 2018 were examined. Descriptive and inferential.analysis of data was performed. RESULTS: A total of 337 older travellers sought pre-travel health advice during the study period. The mean age of the cohort was 65.42 (±10) years. Most of the travellers (n = 267, 80%) had at least one travelling companion. Nearly half of older travellers (n = 155, 46.8%) were travelling with a single companion. Tourism was the main reason for travel for the majority (n = 260, 77.6%), followed by visiting friends and relatives (VFR) (n = 23, 6.9%) travellers. The mean interval remaining before the planned trip was 4.36 (±2) weeks, and the mean duration of travel was 3.16 (±1) weeks. The most popular single country of destination was India with 33 (9.8%) visitors, and South East Asia was the most popular region with 132 (39.2%) older travellers. The majority of travellers (n = 267, 79.2%) had a documented pre-existing medical condition. The most commonly reported medical conditions were hypertension (n = 26, 7.7%), dyslipidaemia (n = 18, 5.3%), diabetes mellitus (n = 12, 3.5%), insect bite sensitivity (n = 11, 3.3%), and hypothyroidism (n = 9, 2.6%). Antihypertensive agents (n = 32, 9.4%) and statins (n = 24, 7.1%) were the most frequently used medications. Typhoid (n = 112, 33.2%) and hepatitis A (n = 84, 24.9%) were the most common vaccinations administered to older travellers at the clinic. CONCLUSIONS: This study provides an insight into the demographics, travel characteristics, and medical profile of elderly travellers seeking advice at a large travel clinic in Ireland. A wide range of travel destinations, diseases and medication use was reported among this group of travellers, which may enable travel medicine physicians to provide more tailored advice and to more appropriately counsel older travellers.