1q24 deletion syndrome. Two cases and new insights into genotype-phenotype correlations.

1q24q25 deletions cause a distinctive phenotype including proportionate short stature, microcephaly, brachydactyly, dysmorphic facial features and intellectual disability. We present a mother and son who have a 672 kb microdeletion at 1q24q25. They have the typical skeletal features previously described but do not have any associated intellectual disability. We compare the genes within our patients' deletion to those in the deletions of previously reported cases. This indicates two genes that may be implicated in the intellectual disability usually associated with this deletion syndrome; PIGC and C1orf105. In addition, our cases provide supporting evidence to recent published work suggesting that the skeletal features may be linked to the microRNAs miR199 and miR214, encoded within intron 14 of the Dynamin-3 gene.

Management of cranial diabetes insipidus: clinical outcomes and patient perception of care.

Objective: There is growing recognition of morbidity and mortality that can occur in patients with cranial diabetes insipidus (CDI) during hospitalisation, due to prescribing errors and dysnatraemia, often related to confusion between CDI and diabetes mellitus among non-specialists. We aimed to investigate this. Methods: Data for each hospitalisation in patients with CDI attending Oxford University Hospital (OUH) were collected retrospectively. The same cohort were invited to complete a questionnaire by telephone. Results: One hundred and nine patients were included, median age was 42 (range: 6-80) years. Route of desmopressin was tablet, melt and nasal spray in 74%, 7% and 17% of patients, respectively, while two patients used a combination of tablet and nasal spray. There were 85 admissions to OUH by 38 patients between 2012 and 2021. Daily measurement of serum sodium was performed in 39% of admissions; hyponatraemia and hypernatraemia occurred in 44 and 15% of admissions, respectively. Endocrine consultation was sought in 63% of admissions post-2018. Forty-five of 78 patients (58%) self-reported ≥1 admission to any hospital since diagnosis. Of these, 53% felt their medical team did not have a good understanding of the management of CDI during hospital admission. Twenty-four per cent reported delay in administration of desmopressin, while 44% reported confusion between CDI and diabetes mellitus, often leading to unnecessary blood glucose monitoring. Conclusion: Dysnatraemia is common in hospitalised patients with CDI. More than half of patients perceived their medical team's understanding of CDI to be poor when admitted with intercurrent illness. A coordinated approach, including early consultation of specialists, frequent serum sodium monitoring, and education of hospital specialists is needed to address this.

Adrenal insufficiency, steroid sick day rules and the paediatric endocrine nurse.

Clinical governance processes are important for improving patient care. Patients with adrenal insufficiency are at significant risk if they have an adrenal crisis and require steroid therapy. Families should receive education on managing illness or stress, that is, steroid sick day rules. Most of this education is delivered by children's nurses. Two local cases of mortality related to adrenal insufficiency were reviewed and a questionnaire audit was undertaken to compare the steroid sick day rules education provided to patients and their families with published standards. Most training (75%) was delivered by nurses. Most families/patients (94%) had received written information on oral dosing for steroid sick day rules, and were confident about when/how to double up oral steroid doses (78%). Fewer families recalled being given written information about the emergency hydrocortisone injection (53%), and fewer were confident about how to give the injection (46%). Several important changes and modifications to clinical practice have been implemented in response to the clinical governance findings. These include setting up notification 'red flags' on patients' electronic records and holding specialist family teaching sessions on steroid sick day rules.

Bariatric surgery in severely obese adolescents: a single-centre experience.

BACKGROUND: Increasing numbers of severely obese young people undergo bariatric surgery in the USA with reports of substantial weight loss after 1 year. National Institute for Clinical Excellence 2006 suggests considering surgery for young people in 'exceptional circumstances'. We present six patients operated upon 2004-2012 at our centre in the UK. CASE SERIES: Six patients (4 male) aged 14-16 years (mean age 15.10) underwent surgery. Mean preoperative body mass index (BMI) was 62.7 kg/m(2) and BMI SDS +4.4. Comorbidities included hypertension, insulin resistance, obstructive sleep apnoea, limited mobility, benign intracranial hypertension and psychosocial issues. All six patients had prior involvement with local lifestyle weight management services and had pharmacological intervention. Four laparoscopic gastric bypass procedures, one laparoscopic gastric banding (patient had a gastric balloon prior to band) and one laparoscopic sleeve gastrectomy were performed. RESULTS: There were no major postoperative procedural complications (one patient had a port rotation). Mean percentage of weight loss, as a percentage of total body weight at 6 and 12 months, was 22 and 27%, respectively. Average absolute weight loss at current follow-up is 54 kg. Mean BMI at 12 months postprocedure was 46.5 kg/m(2)-a mean fall of 16.2 kg/m(2). Mean BMI SDS fell from +4.4 to +3.8 at 12 months and +3.1 at 2 years. Resolution of hypertension, improved school attendance and no progression to T2DM were the benefits noted. CONCLUSIONS: Recent systematic reviews and meta-analyses suggest that bariatric surgery results in sustained and clinically significant weight loss in paediatric populations. The surgical option should continue to be exercised with extreme caution only in severely obese adolescents and done so in appropriate case results in positive outcomes.