Quality of Life After Bilateral Adrenalectomy in MEN 2

Pheochromocytoma is a major cause of morbidity and mortality in the multiple endocrine neoplasia type 2 (MEN 2) syndrome. For the physician, surgical treatment seems well justified even though bilateral adrenalectomy will induce iatrogenically complete loss of adrenocortical function. For the patient this treatment may be a cause of medical problems as well as worry. We have evaluated quality of life after bilateral adrenalectomy in 27 MEN 2 patients through a combined oral and written approach. Mortality was low (one of 27), as was serious morbidity. Most patients had adapted well to the postadrenalectomy state. However, fatigue, worry, and noncompliance with daily medication often caused problems

Application of Minisatellite DNA Probes to Linkage in MEN-2

We describe the potential benefits and the limitations of the use of highly polymorphic minisatellite DNA probes for genetic linkage analysis of multiple endocrine neoplasia type 2A (MEN-2 A). The advantage of these probes is that up to 34 loci can be examined in a single experiment, and since the loci are highly polymorphic, almost every individual in every family is informative. The disadvantage is that the DNA fragment lengths of the alleles at any given locus differ from one family to another, so that families cannot be combined, and large single sibships are needed to obtain significant linkage data. A variable DNA fragment which appears to show linkage in an initial screen of a single sibship must therefore be purified and cloned before chromosomal assignment and extension to further families is possible. These features of the probes are illustrated by a tentative linkage obtained in a large sibship with MEN-2 A

Impact of Screening on Prognosis in the Multiple Endocrine Neoplasia Type 2 Syndromes: Natural History and Treatment Results in 105 Patients

We evaluated the effects of screening for multiple endocrine neoplasia type 2A (MEN-2A) in 12 families. Genealogical studies going back to 1730 show a common ancestry for seven Swedish families and one American family. The total number of patients included 105 individuals, 68 of whom were diagnosed by our screening program. Our screening methods for medullary carcinoma of the thyroid (MTC) had an optimal sensitivity and specificity. The frequency of gene carriers detected in MEN-2A families was 55%. Screening will lead to early diagnosis and early therapy, which in turn, will significantly decrease morbidity, incidence of surgical complications, and mortality related to the tumors of this hereditary syndrome

Subtotal Adrenalectomy in Multiple Endocrine Neoplasia Type 2

We report two patients in whom pheochromocytoma was treated by subtotal adrenalectomy leaving a rim of vascularized cortical tissue in situ. Both patients are doing well without cortisol supplementation although they have subnormal cortisol responses to ACTH stimulation

Experience with Surgical Excision in Childhood Pheochromocytoma

Pheochromocytoma is one of the potentially fatal causes of childhood hypertension. The study aims to analyze the results of our experiences in pheochromocytomas and the long-term results of its surgical treatment in children. The records of 15 children (11 boys, 4 girls) treated for pheochromocytoma in our unit during the period of 1984 and 2002 were reviewed retrospectively. The average age at surgery was 11.7 yr (range 6 yr 9 months-15 yr 7 months). Localized disease is defined as the cases without the invasion of surrounding tissue, regional disease as the invasion of surrounding tissue and metastatic disease as distant metastases. The mean follow-up after pheochromocytoma excision was 95 months (range 5 to 221 months). Tumors were located in the adrenal gland in 11 (bilaterally in 4) and extra-adrenally in 4. Localized disease occurred in 14 patients and regional disease in one. Only one patient was associated with von Hippel Lindau syndrome. Adrenalectomy or total excision of extra adrenal tumor was performed. Four patients (26.7%) recurred after the first operation (at 2 yr 9 months to 14 yr) and regional disease recurred in one patient three times. Early diagnosis, surgical excision, and long-term follow up are most important for the appropriate treatment of childhood pheochromocytoma

A randomised controlled trial comparing the effectiveness of Tai Chi alongside usual care with usual care alone on the postural balance of community-dwelling people with dementia: Protocol for The TACIT Trial (TAi ChI for people with dementia).

Background: Falls are a public health issue for the older adult population and more so for people with dementia (PWD). Compared with their cognitively intact peers, PWD are at higher risk of falls and injurious falls. This randomised controlled trial aims to test the clinical and cost effectiveness of Tai Chi to improve postural balance among community-dwelling PWD and to assess the feasibility of conducting a larger definitive trial to reduce the incidence of falls among PWD. Methods: A 3-centre parallel group randomised controlled trial with embedded process evaluation. One hundred and fifty community-dwelling dyads of a person with dementia and their informal carer will be recruited and assessed at baseline and at six-month follow-up. Dyads will be randomised in a 1:1 ratio to either usual care or usual care plus a Tai Chi intervention for 20 weeks. The Tai Chi intervention will consist of weekly classes (45 minutes’ Tai Chi plus up to 45 minutes for informal discussion, with up to 10 dyads per class) and home-based exercises (20 minutes per day to be facilitated by the carer). Home practice of Tai Chi will be supported by the use of behaviour change techniques with the Tai Chi instructor at a home visit in week 3-4 of the intervention (action planning, coping planning, self-monitoring, and alarm clock reminder) and at the end of each class (feedback on home practice). The primary outcome is dynamic balance measured using the Timed Up and Go test, coinciding with the end of the 20-week intervention phase for participants in the Tai Chi arm. Secondary outcomes for PWD include functional balance, static balance, fear of falling, global cognitive functioning, visual-spatial cognitive functioning, quality of life, and falls. Secondary outcomes for carers include dynamic balance, static balance, quality of life, costs, and carer burden. Discussion: This trial is the first in the UK to test the effectiveness of Tai Chi to improve balance among PWD. The trial will inform a future study that will be the first in the world to use Tai Chi in a trial to prevent falls among PWD. Trial registration: NCT02864056

Screening for Early Asymptomatic Pheochromocytoma in MEN-2

Pheochromocytoma is a major cause of morbidity in multiple endocrine neoplasia type 2. We recommend a similar diagnostic screening approach for early asymptomatic pheochromocytoma as is generally accepted for asymptomatic medullary thyroid carcinoma. We present a new provocative test for early asymptomatic pheochromocytoma. Plasma epinephrine levels and epinephrine/dopamine ratios after physical exercise seem to have higher sensitivity than basal plasma catecholamine levels. Specificity is high especially for discrimination from neurovegetative lability, which is the clinically most important differential diagnosis