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N W Thompson

Publications and source records attributed to N W Thompson.

At least 19 recordsLinked to original sources
PubMed2005

Uterine tumours are a phenotypic manifestation of the hyperparathyroidism-jaw tumour syndrome.

The hyperparathyroidism-jaw tumour (HPT-JT) syndrome is an autosomal dominant disorder characterized by parathyroid tumours, which are frequently carcinomas, and ossifying jaw fibromas. In addition, some patients may develop renal tumours and cysts. The gene causing HPT-JT, which is referred to as HRPT2 and is located on chromosome 1q31.2, encodes a 531 amino acid protein called PARAFIBROMIN. To date 42 mutations, of which 22 are germline, have been reported and 97% of these are inactivating and consistent with a tumour suppressor role for HRPT2. We have investigated another four HPT-JT families for germline mutations, searched for additional clinical phenotypes, and examined for a genotype-phenotype correlation. Mutations were found in two families. One family had a novel deletional-insertion at codon 669, and the other had a 2 bp insertion at codon 679, which has been reported in four other unrelated patients. These five unrelated patients and their families with the same mutation were not found to develop the same tumours, thereby indicating an absence of a genotype-phenotype correlation. An analysis of 33 HPT-JT kindreds revealed that affected women in 13 HPT-JT families suffered from menorrhagia in their second to fourth decades. This often required hysterectomy, which revealed the presence of uterine tumours. This resulted in a significantly reduced maternal transmission of the disease. Thus, the results of our analysis expand the spectrum of HPT-JT-associated tumours to include uterine tumours, and these may account for the decreased reproductive fitness in females from HPT-JT families.

Adult↗
PubMed2003

Role of endoscopic ultrasonography in screening and treatment of pancreatic endocrine tumours in asymptomatic patients with multiple endocrine neoplasia type 1.

BACKGROUND: Patients with multiple endocrine neoplasia (MEN) type 1 risk premature death from pancreatic endocrine tumours (PETs). Endoscopic ultrasonography (EUS) is the most sensitive imaging modality for small PETs. A screening and therapeutic approach for asymptomatic patients is delineated in which EUS plays a pivotal role. METHODS: This was a retrospective study of 15 patients with MEN-1 but with no symptoms of a PET. All patients underwent serum hormone measurement, including gastrin, and EUS. The findings were used to facilitate operative treatment. RESULTS: Six of 15 patients had a normal basal gastrin level and nine had a raised level. EUS demonstrated PETs in 14 patients and identified multiple lesions in 12. There was no predictive relationship between age or gastrin level and the number or size of PETs discovered. Thirteen patients have undergone enucleation or resection of PETs and two remain under observation. Nine of the 13 patients underwent transduodenal exploration to excise gastrinoma(s). One patient had lymph node metastases found at operation. There was no death. Self-limiting pancreatic fistula in five patients and biliary fistula in one. CONCLUSION: Early and aggressive screening using EUS identifies PETs in asymptomatic patients with MEN-1. Detection of tumours at an early stage, before the development of symptoms, lymph node metastases or liver metastases, may facilitate prompt surgical intervention and improve prognosis.

Adolescent↗
PubMed2003

Multiple endocrine neoplasia type 1: duodenopancreatic tumours.

The pancreaticoduodenal disease in Multiple endocrine neoplasia type 1 (MEN1) is the most frequent cause of death due to the syndrome, and the most controversial with regard to its management. This article discusses the current data and recommendations with respect to disease screening, functional tumour diagnosis, natural history, preoperative imaging, operative strategy and follow-up.

Aged↗
PubMed2003

Missed injuries in the acutely traumatised hand.

A prospective study of 500 consecutive patients referred from accident and emergency departments in Northern Ireland with acute hand injuries was performed to assess the incidence of missed injuries. An injury was 'missed' if a patient was receiving inappropriate treatment or returned due to persistent symptoms despite being examined, treated and discharged. There were 16 (3.2%) missed injuries. Seven involved tendon only, four were isolated nerve injuries and four were mixed tendon and nerve injuries. The remaining case was a ruptured ulnar collateral ligament of the thumb metacarpophalangeal joint. Thirteen injuries were open, with a glass laceration being the most common mechanism of injury. The time to detection of a missed injury was on average 11 days (range 1-62 days). Missed hand injuries in Northern Ireland are uncommon but do occur. A thorough clinical examination and accurate injury documentation remain fundamental in their prevention.

Acute Disease↗
PubMed2002

Inflammatory cytokine regulation of TRAIL-mediated apoptosis in thyroid epithelial cells.

Death receptor-mediated apoptosis has been implicated in target organ destruction in chronic autoimmune thyroiditis. Depending on the circumstances, inflammatory cytokines such as IL-1, TNF and IFNgamma have been shown to contribute to either the induction, progression or inhibition of this disease. Here we demonstrate that the death ligand TRAIL can induce apoptosis in primary, normal, thyroid epithelial cells under physiologically relevant conditions, specifically, treatment with the combination of inflammatory cytokines IL-1beta and TNFalpha. In contrast, IFNgamma is capable of blocking TRAIL-induced apoptosis in these cells. This regulation of TRAIL-mediated apoptosis by inflammatory cytokines appears to be due to alterations of cell surface expression of TRAIL receptor DR5 and not DR4. We also show the in vivo presence of TRAIL and TRAIL receptors DR5 and DcR1 in both normal and inflamed thyroids. Our data suggests TRAIL-mediated apoptosis may contribute to target organ destruction in chronic autoimmune thyroiditis.

Apoptosis↗
PubMed2002

Functional absence of flexor digitorum superficialis to the little finger and absence of palmaris longus--is there a link?

We examined 150 men and 150 women aged 18-40 years to assess flexor digitorum superficialis function to the little finger and the incidence of palmaris longus absence. All patients had flexor digitorum superficialis function to the little finger assessed by standard and modified tests. The presence or absence of palmaris longus was assessed by clinical inspection. Following modified testing, ten subjects (14 hands) displayed absolute superficialis deficiency to the little finger. Forty-nine subjects had unilateral absence of palmaris longus (16%). This tendon was absent bilaterally in 26 subjects (9%). On combining the clinical findings, one subject had unilateral absence of flexor digitorum superficialis function to the little finger with contralateral absence of palmaris longus, and one subject had bilateral absence of flexor digitorium superficialis function with unilateral absence of palmaris longus. We conclude that there is no link between an absent little finger flexor digitorium superficialis and an absent palmaris longus.

Adolescent↗
PubMed2001

Endocrine tumours of the pancreas: review and recent advances.

Pancreatic endocrine tumours (PET) are rare but nonetheless important to recognize and treat in a timely fashion. Significant morbidity occurs due to excess secretion of hormones, with all of the PET having some degree of malignant potential. Surgeons must plan directed operative strategies to deal with these tumours and be prepared to undertake aggressive palliative debulking resections if indicated. Somatostatin receptor scintigraphy and endoscopic ultrasound have been particularly helpful in both localizing and staging patients with PET. Other important advances in management include the use of long-acting somatostatin analogues to inhibit hormonal secretion and tumour growth. The possibility of multiple endocrine neoplasia type 1 (MEN-1) should be considered in any patient with a PET. The present article will review the various classes of PET, describe MEN-1 in relation to PET and examine advances in imaging and localization. The role of surgery for PET is also discussed in the present review.

Adenoma, Islet Cell↗
PubMed2001

Early surgical intervention and strategy in patients with multiple endocrine neoplasia type 1.

Patients with multiple endocrine neoplasia type 1 (MEN-1) are an unusual challenge to the endocrine surgeon. Pituitary disease is often treated without surgery, but nearly all patients will require parathyroidectomy for parathyroid hyperplasia. Subtotal parathyroidectomy can be accomplished with a very low rate of permanent hypoparathyroidism and an acceptable rate of recurrent hyperparathyroidism. The treatment of pancreaticoduodenal disease is quite controversial. Even when associated with the Zollinger-Ellison syndrome, early and aggressive surgical treatment should be considered to influence the hormonal syndrome as well as to address the malignant potential of both pancreatic and duodenal tumours. This includes distal pancreatectomy, enucleation of pancreatic head lesions, and duodenotomy with the resection of gastrinomas. Many patients may be completely cured of the manifestations of their disease. As MEN-1 is an uncommon entity, there are very few prospective, randomized data upon which to base surgical judgements.

Duodenum↗
PubMed2001

Total knee arthroplasty without patellar resurfacing in isolated patellofemoral osteoarthritis.

Thirty-one patients (33 knees) with symptomatic patellofemoral osteoarthritis and minimal tibiofemoral changes underwent LCS total knee arthroplasty without patellar resurfacing. Average age was 73 years (range, 58-89 years) with a female-to-male ratio of 5:1. Average follow-up was 20 months (range, 12-40 months). All except 4 patients had grade 3 or 4 patellofemoral osteoarthritis. Preoperatively, all patients had significant knee pain. Sleep disturbance was reported in 21 patients. All but 10 patients required walking aids. Average range of motion was 108 degrees (range, 80-125 degrees ). At latest review, 21 knees were pain-free, the remaining 12 knees being described as having only occasional knee pain. Two patients continued to have night pain. Average range of motion was 104 degrees (range, 70-135 degrees ). Lateral patellar tilt improved in all but 5 knees by an average of 7 degrees (range, 1-26 degrees ). Patellar congruency improved in all but 3 knees by an average of 18% (range, 3-63%). None of the patients to date have required revision surgery. Total knee arthroplasty without patellar resurfacing is an effective option in older patients with isolated patellofemoral osteoarthritis.

Aged↗
PubMed2001

Periprosthetic tibial fractures after cementless low contact stress total knee arthroplasty.

Periprosthetic fractures are a recognized complication of total knee arthroplasty. Fractures may occur intraoperatively or postoperatively, and risk factors have been identified that may predispose an individual to such a complication. We report 7 cases of periprosthetic tibial fractures after low contact stress total knee arthroplasty, a complication encountered by the senior author (D.E.B.) only after a change in practice from a cemented implant to a cementless one. In light of this previously unreported complication in our unit, we attempted to identify common features within this group of patients that may have contributed to fracture occurrence. Statistical analysis revealed a highly significant (P<.005) risk of periprosthetic tibial fracture in patients with a preoperative neutral or valgus knee. Age, gender, and diagnosis did not appear to increase the risk of fracture significantly. All patients displayed evidence of reduced bone mineral density in the lumbar spine and femoral neck regions on dual-energy x-ray absorptiometry scanning. Patients with a preoperative neutral or valgus knee and local evidence of osteopenia represent a high-risk group, in whom particular care in alignment should be taken. In this group, it may be preferable to have the tibial component inserted with cement fixation.

Aged↗
PubMed2001

Intraoperative parathyroid hormone monitoring fails to detect double parathyroid adenomas: a 2-institution experience.

BACKGROUND: We hypothesized that intraoperative parathyroid hormone monitoring (IOPTH) reliably would detect double parathyroid adenomas. METHODS: This was a retrospective study of 20 patients undergoing conventional parathyroidectomy with resection of exactly 2 abnormal glands. Full exploration was performed regardless of IOPTH values, which were measured after anesthetic induction and 5 and 10 minutes following removal of the first abnormal parathyroid gland. Failure to fall below 50% of baseline value by 10 minutes following resection of the first gland indicated the presence of multiglandular disease. RESULTS: All patients were cured. All excised glands were hypercellular on histology. Mean IOPTH values in 9 of the 20 patients with true negative results (noncurative decrease, another gland present) were 66% +/- 7% at 5 minutes and 83% +/- 15% at 10 minutes. The IOPTH values in 11 of the 20 patients with false positive results (curative decrease, another gland present) were 28% +/- 4% at 5 minutes and 18% +/- 2% at 10 minutes. The false positive rate of IOPTH was 55%. CONCLUSIONS: We found that IOPTH failed to reliably detect the presence of double parathyroid adenomas. These data suggest that caution should be exercised when terminating limited parathyroid exploration based on a curative fall in IOPTH values.

Adenoma↗
PubMed2001

Incidence and importance of the tubercle of Zuckerkandl in thyroid surgery.

OBJECTIVE: To define the incidence of a distinct tubercle of Zuckerkandl (TZ) and confirm its anatomical relationships with the recurrent laryngeal nerve and the superior parathyroid gland. DESIGN: Two prospective series. SETTING: University teaching hospital, Australia. SUBJECTS: 200 patients who required thyroidectomy. INTERVENTIONS: Anatomical and clinical observations in two series of patients (n = 100 in each). The first defined the incidence of a TZ and preoperative symptoms; the second delineated the relationship of the TZ to the recurrent laryngeal nerve and the superior parathyroid gland. MAIN OUTCOME MEASURES: Anatomical relationships. RESULTS: A TZ was identified in 63% of patients and was > 1 cm in 45%. In 93% of patients with an enlarged TZ, the recurrent laryngeal nerve lay medial to it and the nerve was found lateral to the TZ in 7% of cases. The superior parathyroid gland was usually cranial to the TZ and posterior to the recurrent laryngeal nerve. The size and position of the TZ did not correlate clearly with symptoms. CONCLUSIONS: The TZ is a distinct feature of the thyroid gland that can be recognised during most thyroidectomies. The size and the position of the TZ have no constant relationship to preoperative symptoms. An understanding of the consistent anatomical relationship between the TZ and recurrent laryngeal nerve and superior parathyroid gland is crucial for safe thyroidectomy.

Humans↗
PubMed2001

The "serendipitous" surgical cure of the Zollinger-Ellison syndrome in a patient with multiple endocrine neoplasia type 1 despite an unsuspected diagnosis of either disease.

Zollinger-Ellison syndrome (ZES) is a relatively uncommon disease that usually presents with peptic ulcer disease or refractory diarrhea. It occurs as a component of multiple endocrine neoplasia type 1 (MEN-1) syndrome in more than 25% of cases. Surgical management of MEN-1 ZES remains controversial. In this case report, we describe the serendipitous cure of ZES in a patient with recurrent peptic ulcer disease who underwent two surgical procedures. The diagnosis of MEN-1 ZES syndrome was neither suspected nor recognized during either operation. This case is presented to highlight the important principles in the diagnosis and current management of patients with MEN-1 ZES.

Humans↗
PubMed2001

Guidelines for diagnosis and therapy of MEN type 1 and type 2.

This is a consensus statement from an international group, mostly of clinical endocrinologists. MEN1 and MEN2 are hereditary cancer syndromes. The commonest tumors secrete PTH or gastrin in MEN1, and calcitonin or catecholamines in MEN2. Management strategies improved after the discoveries of their genes. MEN1 has no clear syndromic variants. Tumor monitoring in MEN1 carriers includes biochemical tests yearly and imaging tests less often. Neck surgery includes subtotal or total parathyroidectomy, parathyroid cryopreservation, and thymectomy. Proton pump inhibitors or somatostatin analogs are the main management for oversecretion of entero-pancreatic hormones, except insulin. The roles for surgery of most entero-pancreatic tumors present several controversies: exclusion of most operations on gastrinomas and indications for surgery on other tumors. Each MEN1 family probably has an inactivating MEN1 germline mutation. Testing for a germline MEN1 mutation gives useful information, but rarely mandates an intervention. The most distinctive MEN2 variants are MEN2A, MEN2B, and familial medullary thyroid cancer (MTC). They vary in aggressiveness of MTC and spectrum of disturbed organs. Mortality in MEN2 is greater from MTC than from pheochromocytoma. Thyroidectomy, during childhood if possible, is the goal in all MEN2 carriers to prevent or cure MTC. Each MEN2 index case probably has an activating germline RET mutation. RET testing has replaced calcitonin testing to diagnose the MEN2 carrier state. The specific RET codon mutation correlates with the MEN2 syndromic variant, the age of onset of MTC, and the aggressiveness of MTC; consequently, that mutation should guide major management decisions, such as whether and when to perform thyroidectomy.

Humans↗