Enhancing nonmydriatic color photographs of the retina with monochromatic views and a stereo pair to detect diabetic retinopathy.

BACKGROUND AND OBJECTIVE: Nonmydriatic digital color imaging is rapidly gaining an important role in screening for diabetic retinopathy. However, it has yet to equal a dilated fundus examination or seven Early Treatment Diabetic Retinopathy Study field 35-mm photography. The authors therefore attempted to enhance efficacy and validity by adding two low-cost steps to the nonmydriatic digital image evaluation. PATIENTS AND METHODS: The fundi of 145 consecutive patients with diabetes mellitus were evaluated for diabetic retinopathy using two different nonmydriatic reading techniques: creating a red-free view (using digital filters) and looking at a stereo pair of each field taken. These methods were each compared to a mydriatic fundus examination. RESULTS: Although the first technique yielded views with sensitivities and specificities similar to what exists in the literature using this same technique, enhancing these photographs (second technique) yielded a statistically significant increase in sensitivity and specificity (P < .005). CONCLUSION: The authors recommend using both low-cost steps when screening for diabetic retinopathy through nonmydriatic digital color imaging.

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.

Testicular in vitro conversion of progesterone to testosterone and androstenedione in 17 alpha-hydroxylase deficiency.

Incubations of [3H]-progesterone with testicular tissue obtained from a new case of male with 17 alpha-hydroxylase deficiency were performed. The per cent conversion to androstenedione and testosterone was virtually absent when compared to that obtained from an identical incubation performed using testicular tissue from a normal male with cryptochordism. The findings provide an in vitro evidence in support of the existence of 17 alpha-hydroxylase testicular defect in this disorder.

Thyrotropin secreting pituitary tumours: a cause of hyperthyroidism.

Pituitary thyrotropin excess resulting in hyperthyroidism has been previously reported in only 25 patients, of whom 19 had a pituitary tumour. This report describes a patient in whom a thyrotropin-producing pituitary tumour was associated with triiodothyronine thyrotoxicosis. Hypophysectomy was followed by a prompt fall in serum thyrotropin and a return to a euthyroid state.

Hypercalciuric rickets: a rare cause of nephrolithiasis.

An unusual case of rickets associated with hypercalciuria is described. In addition to proteinuria, the patient had phosphaturia, aminoaciduria, renal glucosuria and impaired renal concentration but no renal tubular acidosis. Studies did not support the diagnosis of primary hyperparathyroidism. The findings in the patient were very similar to those in 4 previously reported cases and are suggestive of a new combination of multiple renal tubular defects.

Renal lithiasis in Lebanon: I--the chemical types of urinary calculi.

The results of chemical analyses of 429 urinary calculi are presented and classified according to chemical composition. Some of the general features of the different chemical types of the stones are discussed. Although the general distribution of the chemical types of stones in Lebanon is essentially similar to that reported from other countries, the two striking features of this series are: (1) a relatively lower incidence of infection stones (i.e. stones containing magnesium ammonium phosphate) and (2) a relatively higher incidence of stones containing a mixture of uric acid and calcium oxalate and/or calcium phosphate.

Bullet injury to the pituitary gland: a rare cause of panhypopituitarism.

An unusual case of head injury with a direct bullet injury to the pituitary gland is described. The hormonal profile one month after the injury showed severe panhypopituitatism which did not improve one month after surgical removal of the intrasellar bullet fragment.

Partial hypopituitarism following septic peritonitis with shock.

A 46-year-old man had a prolonged septic peritonitis with shock that resulted from a perforated appendix at the age of 29, followed, six months later, by the gradual development of partial hypopituitarism. Radiographic studies, including a pneumoencephalogram, did not reveal any evidence of sellar or surprasellar masses. Endocrine studies revealed growth hormone and gonadotropic deficiency and possible adrenocorticotropic hormone deficiency and possible adrenocorticotropic hormone deficiency. The nature of the disease course yielded much speculation in regard to pathogenesis of the condition.

Hypothalamic hypopituitarism after hemiparesis.

Anterior pituitary insufficiency developed over 15 years in a man who had had a sudden episode of left hemiparesis and slurred speech at the age of 45 years. At age 60 radiographic studies revealed no evidence of a sellar or suprasellar neoplasm, and endocrinologic studies, including stimulation with thyrotropin releasing hormone and luteinizing hormone releasing hormone, yielded results consistent with hypopituitarism of hypothalamic origin. Response to thyroid, adrenocortical and testosterone therapy was good.

The effect of allopurinol on oxypurine excretion in xanthinuria.

In a patient with xanthine urolithiasis secondary to hereditary xanthinuria (xanthine oxidase deficiency), allopurinol administration resulted in a 20 per cent increase in oxypurine excretion and an elevation of the urinary xanthine/hypoxanthine ratio from 4.08 to 6.53. The rise in this ratio suggests that residual xanthine oxidase activity may have been present. It is possible that the excessive re-utilization of hypoxanthine and xanthine in this disease prevents the allopurinol-induced inhibition of de novo purine biosynthesis that is seen in normal subjects.

The co-existence of primary hyperparathyroidism and osteogenesis imperfecta.

A 47-year-old patient suffering from osteogenesis imperfecta was found to have mild hypercalcemia. The latter proved to be due to a parathyroid adenoma. The clinical and laboratory features of this association are summarized, and the implications of serum calcium abnormalities in osteogenesis imperfecta are discussed.