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Biomedical subjects

L E Weeks

Publications and source records attributed to L E Weeks.

17 recordsLinked to original sources
PubMed1998

Germline mutations in the vhl gene in patients presenting with phaeochromocytomas.

It has been shown that an appreciable percentage of patients presenting with primary, apparently sporadic phaeochromocytomas may in fact have von-Hippel-Lindau (VHL) disease. In order to investigate this, we retrospectively screened 68 patients, who had been operated on for phaeochromocytomas, for the presence of germline mutations in the vhl gene. DNA was isolated from peripheral-blood leukocytes and used to screen the entire coding sequence and the intron-exon boundaries of the vhl gene for mutations, using a PCR-based SSCP strategy. When an abnormal pattern was found in the SSCP analysis, sequence analysis was carried out. We found SSC variants in the vhl gene in 8 of the 68 patients. Of 6 patients, 2 turned out to be related (an uncle and his nephew), and they carried the same mis-sense mutation: R64P. In 4 other patients, mis-sense mutations, P25L, L63P, G144Q and I147T, were also identified. None of these mutations has been described, and 3 of them (P25L, L63P and R64P) are located closer to the N terminus of the vhl protein than any reported vhl mutation. In the remaining 2 cases, the mutations were localized not in the coding sequence but in the intronic sequence (but not within splice-sites), adjacent to the exon, so they were probably not related to the disease. Our results show that a relatively high proportion (6/68, or 8.8%), though not as high as the 20% reported earlier, of patients with apparently sporadic phaeochromocytomas may carry germline mutations in the vhl gene.

Adrenal Gland Neoplasms↗
PubMed1991

Upper extremity wound management: intermediate infections.

A careful history and physical examination, including information regarding position of the hand at the time of injury, presence of other disease, handedness, age, and occupation, are all essential to evaluate hand infection. If surgery is anticipated, antibiotics should generally be withheld until operative cultures are obtained. Infections secondary to human bite injuries are common and are usually caused by a blow of the fist to the mouth. These injuries can produce crippling sequelae, must be managed promptly and aggressively, and often require surgery. Flexor tenosynovitis, often caused by a penetrating injury, may be treated nonoperatively if the patient presents within 24 to 48 hours of onset. Older injuries always require incision and drainage of the flexor tendon sheath. Most authors agree that surgical management of dog bite wounds to the hand is essential. Cat and arthropod bites may also require surgery.

Bites and Stings↗
PubMed1990

Upper extremity wound management.

Many hand infections can produce permanent disability if not treated promptly and aggressively. Glass wounds and paint or grease gun injections can result in serious deep infections and often require immediate treatment in the operating room. The following common infections challenge the treating physician regarding their indications for surgical versus nonsurgical treatment. Caught early, infection of the nail fold (paronychia) responds to soaks in warm saline, oral antibiotics, and elevation of the affected part; in later stages, incision and drainage are necessary. Felons, subcutaneous abscess of a digit's distal pulp, must always be treated surgically, however. Herpetic whitlow, caused by herpes simplex, looks similar to other infections of the digit but pursues a self-limited course, resolving in 3 to 4 weeks; surgical treatment is strongly contraindicated. If erythema and drainage persist following proper treatment of hand infections, osteomyelitis should be ruled out with appropriate x-rays.

Anti-Bacterial Agents↗
PubMed1985

Evaluation of sciatic nerve compromise during total hip arthroplasty.

Sciatic nerve function was monitored intraoperatively by somatosensory evoked potentials (SEP) in 50 patients during total hip arthroplasty. There were 12 instances of temporary nerve compromise in ten patients: three during acetabular preparation due to retraction, one due to reamer contact, six during femoral reaming due to positioning, and two during trial reduction due to inadequate shortening of the femoral neck. The technique for monitoring, causes, and incidence of nerve compromise during total hip arthroplasty are discussed. SEP monitoring may be especially useful in revision surgery.

Aged↗
PubMed1979

Handling of nonsevere head injuries.

In emergency patients with nonsevere head injuries, there are conflicting opinions over which patients should be admitted for observation, but little data directly useful to the emergency physician in making this decision. The literature was reviewed and records of 182 patients presenting for head injury were examined. Although many factors must be considered, by far the most helpful element in predicting outcome is the mental status of the patient as observed in the emergency department. Features suggesting depressed skull fracture or possible foreign bodies require radiographic examination. Most patients can be observed in the emergency department mainly for changes in level of consciousness and discharged with instructions for further observation at home.

Cognition Disorders↗
PubMed1978

Differential diagnosis of intrahepatic shadowing on ultrasound examination.

Significant sonic shadowing originating from a structure within the hepatic parenchyma is unusual and often denotes pathology. The differential diagnosis (choledocholithiasis, air in the biliary tree, calcified tissue, foreign bodies, and shadowing from normal structures) is reviewed and examples are presented.

Adult↗
PubMed1977

Unusual echographic appearance of a Courvoisier gall bladder.

A patient who had been jaundice for more than four months was examined with diagnostic ultrasound. Ultrasound examination revealed that the patient had a solid-appearing mass in the region of the gall bladder, in addition to findings diagnostic of obstructive jaundice. A probable mass was also noted in the head of the pancreas. The clinical data and representative echographic pictures are presented to emphasize the point that sludge within the gall bladder is echogenic and appears more solid than cystic on a standard echographic examination.

Aged↗
PubMed1977

"Pseudostone" of the gallbladder. Ultrasound findings and case report.

The ultrasonic criteria for the diagnosis of gallbladder calculi are: (1) echo-dense structures which disturb the smooth contour of the posterior border of the gallbladder; (2) sonic shadowing, and (3) echoes from within the gallbladder. Diagnostic confidence increases greatly in cases in which internal echoes, contour irregularities, and sonic shadows have occurred simultaneously. A case is presented in which all three criteria are fulfilled, but which represents an artifact, i.e., "pseudostone." This was confirmed by varying the patient's respiration and showing that the "pseudostone" represented echoes from a loop of bowel which produced a significant impression on the posterior wall of the gallbladder during deep inspiration. The absence of cholelithiasis was confirmed by oral cholecystography.

Cholecystography↗
PubMed1976

Enzymatic measurement of free and esterified cholesterol levels in plasma and other biological preparations using the oxygen electrode in a modified glucose analyzer.

A method is described for assaying free and esterified cholesterol using the oxygen electrode in a modified glucose analyzer to measure the relative amount of oxygen utilization taking place during oxydation of free cholesterol by the enzyme, cholesterol oxidase. A second enzyme, cholesterol ester hydrolase, is utilized to generate free cholesterol from cholesterol esters. This assay procedure is rapid, specific, reproducible and applicable to the measurement of free and esterified cholesterol carried in the major plasma lipoprotein fractions of man and the rat and, in addition, it can be utilized for the assay of sterols in subcellular fractions of cells.

Animals↗