The Unforeseen Diagnosis: Hyperparathyroidism-Jaw Tumour Syndrome Case Report and Review of the Literature.

Hypercalcaemia and its systemic sequelae are a relatively common finding amongst patients in the field of endocrinology. Primary hyperparathyroidism, a frequent cause of hypercalcaemia, is often seen among middle-aged female patients, typically resulting from an underlying single-gland adenoma. Although patients may present with symptoms (nephrolithiasis, musculoskeletal discomfort, dehydration, or mood disturbance, to name a few), hypercalcaemia is rather frequently identified incidentally. In younger patients, a familial form of primary hyperparathyroidism must be considered, with a positive diagnosis mandating familial screening. Hyperparathyroidism-jaw tumour syndrome is one such autosomal dominant familial disorder, characterised by a mutation in the cell division cycle 73 (CDC73; also known as HRPT-2) tumour suppressor gene. This disorder is characterised by multiple pleiotropic phenomena, including recurrent primary hyperparathyroidism (and the effects of hypercalcaemia), neoplasms (such as uterine, renal, mandibular, and maxillary), and infertility. A patient not conforming to the classic candidacy for primary hyperparathyroidism requires consideration for a familial cause. Case Description. We present a rare diagnostic entity-hyperparathyroidism-jaw tumour (HPT-JT) syndrome-in a 36-year-old female with recurrent primary hyperparathyroidism, frequent nephrolithiasis, and infertility for 18 years prior to the diagnosis. We aim to promote awareness amongst medical professionals of this rare, but nonetheless essential differential diagnosis through a case report and review of the literature. Conclusion. Medical professionals must avoid diagnostic overshadowing and display a low threshold for genetic testing in younger patients with primary hyperparathyroidism. The importance of proper identification extends beyond the patient to their relatives and offspring.

Intensive structured education for type 1 diabetes management using BERTIE: Long-term follow-up to assess impact on glycaemic control and quality of life indices.

AIMS: Bournemouth Type 1 Intensive Education (BERTIE) is a structured education course delivered 1 day a week for 4 weeks for self-management of type 1 diabetes. BERTIE outcomes were analysed to assess long-term effectiveness: primary outcome assessed impact of BERTIE on glycaemic control, secondary outcomes assessed impact on Problem Area in Diabetes (PAID) scale, severe hypoglycaemia and diabetic ketoacidosis incidence (DKA). METHODS: Prospectively collected outcome data from attendees included glycated haemoglobin (HbA1c), PAID, severe hypoglycaemia and DKA incidence recorded pre-course, 6 months and 1 year post-attendance, with HbA1c assessed annually at subsequent clinic visits. RESULTS: Between 1999 and 2015, 524 people attended BERTIE with 5 year follow-up in 316 (60.3%) attendees. HbA1c was reduced from 74 ±â€¯17 mmol/mol (8.9 ±â€¯1.6%) at baseline to 71 ±â€¯15 mmol/mol (8.6 ±â€¯1.4%) at 1 year and 70 ±â€¯15 mmol/mol (8.6 ±â€¯1.3%) at 5 years (p < 0.0001); severe hypoglycaemia incidence reduced from 0.8 ±â€¯2.1 to 0.4 ±â€¯2.2 episodes/person/year at 1 year (p < 0.0001); PAID scale reduced from 23 ±â€¯16 to 15 ±â€¯12 (p < 0.0001) at 1 year; DKA incidence was 0.06 ±â€¯0.34 episodes/person/year pre-course and 0.03 ±â€¯0.21 at 1 year (p = 0.5271). CONCLUSIONS: BERTIE outcome data demonstrate favorable biochemical and psychological outcomes supporting recommendations that structured education be provided to adults with type 1 diabetes.

In-patient Tolvaptan use in SIADH: care audit, therapy observation and outcome analysis.

BACKGROUND: Indications for use of tolvaptan in SIADH-associated hyponatraemia remain controversial. We audited our local guidelines for Tolvaptan use in this situation to review treatment implications including drug safety, hospital admission episode analysis (episodes of liver toxicity, CNS myelinolysis, sodium-related re-admission rates), morbidity; mortality and underlying aetiologies. METHODS: We report a retrospective case series analysis of on-going treatment outcomes (case-note review) for 31 patients (age 73.3 ± 10.5 years, 55% females) consecutively treated with Tolvaptan as in-patient for confirmed SIADH with persistent S/Na+ < 125 mmol/L despite removal of reversible causes and 24-48 h fluid restriction, and include longer-term outcome data (re-treatment/readmissions/mortality) for up to 4 years of follow-up. A minimum of 6 months follow-up data were reviewed unless the patient died before that period. RESULTS: Short-term outcomes were favourable; 94%-achieved treatment targets after a mean of 3.48 ± 2.46 days. There was statistically significant rise in S/Na+ level after Tolvaptan treatment (before treatment: mean sodium 117.8 ± 3.73, 108-121 mmol/L and after treatment: mean sodium 128.7 ± 3.67, 125-135.2 mmol/L, P < .001). Although the target S/Na+ level was >125 mmol/L in fact one third (35%) of the patients achieved a S/Na+ level of >130 mmol/L by the time of hospital discharge. No patient experienced S/Na+ rise >12 mmol/L/24 h, drug-associated liver injury or CNS-myelinolysis. The average length of hospital stay following start of Tolvaptan treatment was 3.2 days. Relapse of hyponatraemia occurred in 26% of the patients, requiring retreatment with Tolvaptan. In all patients where either relapse of hyponatraemia occurred or readmission was necessary, SIADH was associated with malignancy, which was present overall in 60% of the group studied. CONCLUSIONS: This study confirms the safety and efficacy of Tolvaptan in the treatment of SIADH-related significant, symptomatic hyponatraemia when used under specialist guidance and strict monitoring. A sodium level relapsing below the treatment threshold by 1 week after discontinuation is a good indicator of a patient group with re-treatment/longer-term therapy needs, all of whom had underlying malignancy. The criteria set locally in our trust to initiate Tolvaptan use also identifies a group where further investigation for underlying malignancy should be considered.

Cyclical Cushing's: how best to catch the ups and downs.

A 68-year-old man with a background of hypertension and type 2 diabetes presented with fluctuating symptoms of muscle aches and pains and tiredness. His initial work-up for the possibility of hypercortisolaemia showed a completely variable pattern, with 24-hour cortisol excretion and serum cortisol post 1 mg dexamethasone suppression test ranging from normal to significantly elevated. A series of salivary cortisol with symptom diary confirmed the cyclical nature of hypercortisolaemia, and his concomitant adrenocorticotropic hormone (ACTH) levels were elevated. An inferior petrosal sinus sampling, performed during hypercortisolaemic phase of his cycle,suggested a central source of ACTH secretion. He had unsuccessful exploration of his pituitary and was eventually treated with bilateral adrenalectomy followed by lifelong steroid replacement. His symptoms improved immediately, and he came off his oral hypoglycaemic and antihypertensive agents within 6 months following his surgery.

Fever of unknown origin in a patient initially presenting with traveller's diarrhoea.

A 17-year-old male presented with diarrhoea and malaise following his return from Kenya and Tunisia. He was managed as a case of traveller's diarrhoea. Stool cultures were negative for pathogenic bacterial growth. Two weeks later he presented with worsening lower back pain. MRI of lumbosacral spine suggested L1 osteomyelitis. CT-guided spinal aspirate grew no organisms and repeat viral serology and blood cultures (including tuberculosis screening) were negative. He was treated with a 6-week course of ceftriaxone. Back pain did not improve and a repeat MRI scan 8 weeks after his antibiotic course indicated progressive changes in L1 extending to L2 with an intradiscal abscess. Repeat CT-guided spinal aspirate grew Salmonella arizonae sensitive to cotrimoxazole and ceftriaxone. He was treated with intravenous ceftriaxone and cotrimoxazole for 12 weeks. A 4-month follow-up MRI scan showed progressive improvement of the L1/L2 discitis with resolution of intradiscal fluid.

Dengue fever in Pakistan: a paradigm shift; changing epidemiology and clinical patterns.

Dengue fever has huge public health implications and affects over 100 million people worldwide. This review pictures the current situation of Dengue in Pakistan and presents a review of published literature. Pakistan has seen recurrent epidemics of Dengue Fever recently. Unfortunately, these epidemics are becoming more severe in their clinical manifestation. Pakistan experienced large epidemics of dengue fever during 2008, 2010 and 2011 affecting thousands of people and claiming hundreds of deaths. A comparison of data during these epidemics indicates a shift from mild to a more severe disease, which could be interpreted as an epidemiologic transition pattern in the country. Expansion of Dengue in Pakistan seems to be multifactorial, including the climate change, frequent natural disasters, vector resistance to insecticides and lack of resources. This highlights the need for rigorous vector control. Continuing education of primary care physicians is crucial for early appropriate management to reduce mortality.

An unusual cause of stroke in a young female.

Takayasu arteritis is a granulomatous vasculitis of medium- to large-sized arteries. Initial presentation is usually with nonspecific constitutional symptoms, but unusually, it can present with acute ischemic features in the advanced disease. We present a case of a young Asian female who presented with acute stroke due to Takayasu arteritis. Involvement of proximal arteries was a source of embolism, which was the most likely cause of stroke in this patient. Patient made a good clinical recovery with a combination of medical treatment and rehabilitation. Takayasu arteritis should be considered as a possibility in all young patients presenting with stroke, as this is fairly responsive to medical management and associated with good clinical outcomes.