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Biomedical subjects

J P Welch

Publications and source records attributed to J P Welch.

At least 19 recordsLinked to original sources
PubMed1992

Unbalanced translocation of chromosome 3p in Wilms' tumor.

Genetic studies in Wilms' tumor have most commonly shown a deletion involving band 13 on the p arm of chromosome 11 in association with aniridia. Structural rearrangements of chromosome 3p have been found in carcinoma of renal cell and lung origin but have not been previously reported in Wilms' tumors. We present two phenotypically normal, unrelated patients with Wilms' tumors, one of which was bilateral, in which cytogenetic analysis of the tumors showed an unbalanced translocation of the p arm of chromosome 3. Two biopsies were done in the patient with bilateral Wilms' tumor. The first biopsy specimen showed a translocation between chromosome 3 and 13 with partial trisomy of 3p and loss of material from 13q. The second biopsy three and a half months later again showed trisomy of chromosome 3p. The unilateral Wilms' tumor showed trisomy of 3p with partial loss of 7p. Neither patient showed a constitutional chromosomal abnormality and neither tumor showed any cytogenetic abnormality involving chromosome 11p. Quantitative DNA analysis was performed in the tumors of both patients. The bilateral Wilms' tumor was nearly diploid with a DNA index of 1.284 (mean ploidy, 2.45; SD, 0.854) while the unilateral Wilms' tumor was aneuploid with a DNA index of 1.531 (mean ploidy, 3.35; SD, 0.976). DNA analysis results are discussed in relationship to the chromosome abnormality seen on the karyotype analysis. These cytogenetic findings suggest that genetic oncogenesis in Wilms' tumor is heterogenous.

Aniridia↗
PubMed1992

A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening.

Deficiency of beta-hexosaminidase A (Hex A) activity typically results in Tay-Sachs disease. However, healthy subjects found to be deficient in Hex A activity (i.e., pseudodeficient) by means of in vitro biochemical tests have been described. We analyzed the HEXA gene of one pseudodeficient subject and identified both a C739-to-T substitution that changes Arg247----Trp on one allele and a previously identified Tay-Sachs disease mutation on the second allele. Six additional pseudodeficient subjects were found to have the C739-to-T mutation. This allele accounted for 32% (20/62) of non-Jewish enzyme-defined Tay-Sachs disease carriers but for none of 36 Jewish enzyme-defined carriers who did not have one of three known mutations common to this group. The C739-to-T allele, together with a "true" Tay-Sachs disease allele, causes Hex A pseudodeficiency. Given both the large proportion of non-Jewish carriers with this allele and that standard biochemical screening cannot differentiate between heterozygotes for the C739-to-T mutations and Tay-Sachs disease carriers, DNA testing for this mutation in at-risk couples is essential. This could prevent unnecessary or incorrect prenatal diagnoses.

Amino Acid Sequence↗
PubMed1992

Acute mesenteric ischemia caused by isolated superior mesenteric artery dissection.

Isolated dissection of a peripheral artery is a rare event. Only 11 reports exist in the literature of dissection of the superior mesenteric artery, most of which have been fatal. This is the first documented case of the successful treatment of an acute ischemic event caused by a superior mesenteric artery dissection. In addition, the new technique of right gastroepiploic artery-to-superior mesenteric artery bypass is introduced as a satisfactory method of revascularization.

Acute Disease↗
PubMed1992

Management of benign, giant gastric ulcers.

Giant gastric ulcers (greater than 3 cm in diameter) have traditionally been considered to be refractory to medical therapy and were commonly thought to initially appear as life-threatening hemorrhage requiring emergent operative therapy. This study was undertaken to evaluate the results of medical and surgical treatment of benign, giant gastric ulcers and the validity of these traditional teachings. A retrospective review of 44 patients with giant gastric ulcers was performed to evaluate the results of medical and surgical therapy at Hartford Hospital (Hartford, CT). The majority of these patients received medical therapy. Over 57 per cent received only medical therapy, while 25 per cent received primary, operative therapy. Contrary to popular belief, the authors found that patients who received initial medical therapy did not have high morbidity or mortality rates. Therefore, while the necessity of early surgical intervention following perforation or in patients with signs of hemorrhagic shock can not be refuted, the authors conclude that medical therapy of benign, giant gastric ulcers is often effective and not unduly hazardous. Giant gastric ulcers, in and of themselves, are not an indication for surgery.

Adult↗
PubMed1991

Enterolith intestinal obstruction owing to acquired and congenital diverticulosis. Report of two cases and review of the literature.

Diverticulosis of the small bowel, complicated by enterolith formation with ensuing obturation obstruction, was recently documented in two patients. One patient had an enterolith formed within a Meckel's diverticulum; the other had an enterolith dislodged from an acquired diverticulum. Both patients presented with signs and symptoms of acute small bowel obstruction. Only 20 such cases of bowel obstruction secondary to jejunal enterolithiasis and five cases secondary to Meckel's enterolithiasis have been reported. The mechanism of obstruction may involve local encroachment or enterolith expulsion with distal bowel obstruction, although the latter is much more common. Optimally, enteroliths are broken up and milked into the proximal colon without incising the bowel. Alternatively, the enterolith may be milked proximally to a less edematous portion of bowel and an enterotomy may be performed. At times, the primary diverticulum is resected with the contained enterolith.

Aged↗
PubMed1991

Cytogenetic abnormalities associated with renal cell carcinoma.

Cytogenetic analysis was performed on 23 renal cell carcinomas (21 sporadic and 2 associated with von Hippel-Lindau's disease). Clonal chromosomal abnormalities were found in 19 of 21 of the sporadic tumors. The most frequent abnormalities were a loss or rearrangement of material in 3p (11 of 21 cases) or an extra chromosome 7 (7 of 21 cases). Correlation between specific chromosomal abnormalities and clinical presentation was absent with the exception of trisomy 7 and -Y, which occurred only in patients more than 60 years old. An increasing number of cytogenetic abnormalities were associated with a greater likelihood of renal vein and/or capsule involvement. Both patients with von Hippel-Lindau's disease had tumors with a normal karyotype.

Adult↗
PubMed1991

A flexible system for vital signs monitoring in hospital general care wards based on the integration of UNIX-based workstations, standard networks and portable vital signs monitors.

The article describes a study conducted on general surgical and thoracic surgical floors of a 1000-bed hospital to assess the impact of a new network for portable patient care devices. This network was developed to address the needs of hospital patients who need constant, multi-parameter, vital signs surveillance, but do not require intensive nursing care. Bedside wall jacks were linked to UNIX-based workstations using standard digital network hardware, creating a flexible system (for general care floors of the hospital) that allowed the number of monitored locations to increase and decrease as patient census and acuity levels varied. It also allowed the general care floors to provide immediate, centralized vital signs monitoring for patients who unexpectedly became unstable, and permitted portable monitors to travel with patients as they were transferred between hospital departments. A disk-based log within the workstation automatically collected performance data, including patient demographics, monitor alarms, and network status for analysis. The log has allowed the developers to evaluate the use and performance of the system.

Boston↗
PubMed1991

Obstructing cancers of the right and left colon: critical analysis of perioperative risk factors, morbidity, and mortality.

Significant hospital mortality has been observed in right-sided obstructing colonic cancer patients but remains unexplained. The medical records of 52 patients with obstructing colonic cancer seen between 1980-88 were reviewed to identify prognostic factors influencing mortality when carcinoma involved either the right or the left segments of the colon. The mean age, sex, incidence, and distribution of perioperative risk factors and rate of postoperative complications were comparable between the two groups. Right colonic cancer patients had a higher incidence of advanced disease (16 of 19 had Dukes C and D tumors). Their mortality was higher than that of their counterparts (21% vs 9%), correlating primarily with advanced cancer stage rather than with preoperative risk factors or technical (operative) complications. Though the difference in mortality rates is not statistically significant, patients with obstructing cancers of the right colon, compared to their left counterparts, are hospitalized in more advanced stages of disease and have a worse prognosis.

Aged↗
PubMed1991

Intrarectal sonography. A new technique for the assessment of rectal tumors.

Preoperative staging of rectal tumors provides a selective therapeutic approach. Twenty-three patients were evaluated with prospective intrarectal sonography. Endosonography identified all 21 rectal lesions. Two patients with previous rectal carcinoma had no evidence of recurrence. Thirteen of 17 patients (76%) with rectal carcinoma were correctly staged by endosonography. A submucosal leiomyosarcoma and pararectal arachnoid cyst were correctly identified. Preoperative assessment of lymph node status was accurate in five of ten patients (50%). Results of preoperative digital rectal examination predicting rectal wall involvement correlated with pathologic findings in 11 of 15 patients (73%). Intrarectal sonography is an important staging technique for preoperative evaluation of rectal wall invasion and guides appropriate surgical intervention.

Adult↗
PubMed1987

Deceased co-twin as a cause of false positive amniotic fluid AFP and AChE.

A pregnancy was terminated because of persistently elevated amniotic fluid AFP (+10 S.D.) and an AChE band of low intensity on gel electrophoresis. No fetal anomalies were detected by ultrasonographic examination. Autopsy revealed an apparently normal fetus of about 20 weeks gestation. Attached to the placenta was a small sac containing a fetus papyraceus co-twin of about 8-9 weeks gestation. The small deceased co-twin and its gestational sac were not detected prenatally despite multiple ultrasonographic examinations. The difficulty in the interpretation of apparently conflicting results is emphasized.

Abortion, Therapeutic↗
PubMed1986

Further delineation of Weaver syndrome.

Seven new cases of Weaver syndrome are described, including the first reported case in an adult. Overgrowth is usually but not always present. The combination of characteristic facies and developmental delay, with the peculiar radiographic findings of accelerated dysharmonic osseous maturation and splaying of the distal long bones, is diagnostic of Weaver syndrome.

Adult↗
PubMed1985

Cancer of the head of the pancreas: an institutional review with emphasis on surgical therapy.

A clinical review of 461 patients with adenocarcinoma of the pancreas is presented. Seventy-nine percent of the group underwent laparotomy, including laparotomy and biopsy (n = 134), bypass procedures (n = 207), and radical resection (n = 24). The operative mortality following cholecystoenterostomy or choledochoenterostomy was similar but survival was greater following the latter procedure. Thirteen percent having biliary bypass alone needed later gastric bypass. Radical resection is recommended under favorable conditions (6.6% in this series). The five-year survival in this group was 12.5% and the operative mortality was 9% over the last 10 years.

Adenocarcinoma↗
PubMed1985

Carcinoid tumors of the colon. A study of 72 patients.

Since carcinoid tumors rarely originate in the colon (excluding those that arise in the appendix and rectum), there are few large clinical series describing these neoplasms. Seventy-two patients with colonic carcinoids treated over a 40 year period have been reviewed. The peak incidence was in the seventh decade and females outnumbered males 2:1. Virtually all patients were symptomatic, usually complaining of abdominal pain. The symptom duration averaged 3.6 months. Thirty-eight percent of patients had masses in the right lower quadrant and 16 percent, hemoccult-positive stools. Three patients had a documented elevation of the urinary 5-HIAA level. Nearly 70 percent of the lesions were situated in the right segment of the colon. Barium enemas usually detected the neoplasms. Most patients had colon resections and five had resection of adjacent organs. Forty-four percent of the lesions had spread to regional sites and 38 percent to distant points. Most lesions were bulky. The operative mortality was 19 percent overall. Chemotherapy and radiotherapy did not appear to provide good palliation. Synchronous or metachronous neoplasms developed in 30 patients, especially in the colon, during the period of follow-up. The crude survival rates were 58, 51, 25 and 10 percent at 1, 2, 5, and 10 years, respectively.

Adult↗
PubMed1979

Acute diverticulitis of the transverse colon with perforation: report of three cases and review of the literature.

Three cases of perforated diverticulitis of the transverse colon are added to 19 case reports in the English literature. This unusual disease entity is usually confused with acute appendicitis prior to operation and with carcinoma of the colon during the procedure. The cause of these diverticula is unclear, and their clinical presentation resembles that of right-sided diverticula. Segmental resection of the transverse colon together with end-to-end anastomosis is the treatment of choice, except in the occasional instance of a large intra-abdominal abscess, when anastomosis may be deferred.

Diverticulitis, Colonic↗
PubMed1979

Giant diverticular of the sigmoid colon: a review of differential diagnosis and operative management.

Giant sigmoid diverticula ("giant gas cysts," "giant sigmoid cysts") are an unusual complication of diverticulitis. We have recently seen two patients with such lesions, bringing the total number of reported cases to 48. Most patients are elderly and complain of abdominal pain or the presence of an abdominal mass. Air trapping by a ball-valve mechanism may be responsible for formation of the fibrous cysts. The gas-filled structures can usually be differentiated from other conditions by contrast studies. Excision of the cyst and adjacent colon with anastomosis can usually be accomplished safely under elective circumstances.

Adult↗