Erythrocyte Pyrimidine 5‘-Nucleotidase Deficiency

We present 2 Norwegian siblings who we believe to be the first cases of pyrimidine 5′-nucleotidase deficiency diagnosed in the Scandinavian countries. In addition to the features presented by previously published cases, our patients exhibited signs of intravascular haemolysis with haemoglobinuria and increased loss of iron in the urine. The loss of iron has made iron medication necessary from time to time. A kidney biopsy from the oldest patient revealed accumulation of iron in the epithelium of the proximal tubuli. The kidneys were considerably enlarged in both patients, but with normal function tests.     

Thoracoscopic repair of tracheoesophageal fistula in a septuagenarian

We report the case of a 79-year-old female with clinical and radiographic evidence of congenital H-type tracheoesophageal fistula. Past medical history included recurrent pneumonia and episodic cough with food or fluid intake. She exhibited Ohno's sign during the dysphagia evaluation. A video swallow study demonstrated evidence of aspiration. Esophagogram and bronchoscopy identified the fistulous tract. Repair of the anomaly was performed using a minimally invasive thoracoscopic approach. In our experience, excellent visualization and magnification of the anatomic field with use of thoracoscopy allowed for relative ease of dissection and resection of the tract with minimal postoperative morbidity.     

Management of Vascular Injuries in a Forward Hospital

Background

Management of vascular injuries poses a challenging problem under warlike conditions. Several authorities recommend limb revascularisation only within first 6-8 hours, as the outcome after delayed revascularisation is poor.

Methods

A retrospective analysis of 61 consecutive patients with vascular injury in a forward hospital over a 25- month period was carried out.

Results

Vascular injuries constituted 3.1% of all injuries. The mean injury to treatment delay (lag time) was 11 hours, and 10 patients received treatment after 12 hours. The overall amputation rate was 15%, but only 6.5% for those revascularised within 12 hours and 44% for those undergoing surgery after 12 hours (Chi-square 4.59, p < 0.05). Presence of associated fractures was associated with an adverse outcome (Chi-square 4.24, p < 0.05), as was ligation in comparison to revascularisation (Chi-square 7.86, p < 0.005). Popliteal injuries were associated with a high amputation rate.

Conclusions

Failure to revascularise (ligation of artery), presence of associated fracture, and restoration of circulation beyond 12 hours are associated with a high amputation rate.Key Words: Vascular injuries, trauma, amputation     

Parathyroid Neoplasms: The Army Hospital (Research & Referral) Experience

Background

Neoplasms of the parathyroid are common but parathyroid carcinoma is exceptionally rare. In contrast to most other malignant endocrine tumours that are usually less hormonally active, malignant parathyroid tumours are hyper functional. Malignant parathyroid tumours pose a diagnostic dilemma for the pathologist.

Objective

To study the clinicopathological profile of a case series of parathyroid neoplasms and determine features which facilitate a malignant diagnosis.

Methods

A retrospective analysis of seven cases of surgically treated parathyroid tumours over a three-year period at a single centre was done. Clinical, haematological, biochemical, and radiological data was accrued from medical records. The histopathology slides were reviewed along with the clinicopathological profile in an attempt to delineate markers of malignancy.

Results

Patients ranged from 30 to 58 years of age. Males and females were approximately equal. Weakness and bone pain were the commonest presenting symptoms. Over 50% had significant hypercalcaemia and all had elevated serum parathormone. Clinically apparent mass was seen in only one. All tumours were successfully localised using CT scan and MRI. Thick fibrous capsule and broad septal fibrosis was seen in both the carcinomas; these were thin in the adenomas. Mitotic counts of 1-3 per high power field (HPF), capsular invasion and nodal metastasis were noted in the malignant tumours.

Conclusion

Elevated serum calcium and parathormone values point to a parathyroid neoplasm. Current imaging modalities are successful in localising the tumour preoperatively. Markedly elevated serum calcium, broad fibrous bands, mitotic counts and capsular invasion are indicators of malignancy.Key Words: Parathyroid, Adenoma, Carcinoma     

Atrophy of the residual alveolar ridge following tooth loss in an historical population

Oral Diseases (2010) 17 , 33–44 Objectives: To study the natural aetiopathology of jaw atrophy after tooth loss, unaltered by prosthetic procedures, an historical population without modern dental treatment was examined. Methods: Based on the hypothesis that there are predictable changes in shape during jaw‐atrophy, frequency and degree of atrophy as well as clinical aspects of bone quality and resorption were determined in the skeletal remains of 263 individuals. The potential association between age and frequency/severity of atrophy was analysed. Results: Atrophy in at least one jaw segment was present in 45.2% of the analysed jaw specimens. The residual ridge underwent a series of changes in shape and height following the pattern of resorption described for modern populations. The severity of these alterations was associated with the age of the individual and the region within the jaw. Atrophy was frequently related to structural degradation of the covering cortical layer. Conclusions: These findings prove that atrophy of the jaw evidently does occur, displaying similar patterns of resorption in a population without modern prosthetics, where the negative effect of ill‐fitting dentures is excluded. The basic information about alterations of shape and the cortical layer covering the residual crest might help to provide a deeper insight into aetiopathological mechanisms of this common oral disease.