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Biomedical subjects

W Primack

Publications and source records attributed to W Primack.

12 recordsLinked to original sources
PubMed2001

A novel approach in treating recurrent bilateral hepaticojejunostomy biliary strictures post-liver transplantation: Successful use of Simpson's atherectomy device.

Biliary complications occur in 6% to 34% of patients who undergo orthotopic liver transplantation. Strictures at the anastomosis site or elsewhere in the biliary tract are common. These strictures are amenable to interventional radiological and surgical procedures; however, retransplantation is sometimes an inevitable outcome. An 8-year-old boy received combined liver and kidney transplants May 31, 1998. Hepatic artery thrombosis was diagnosed postoperative day 1 and treated with revascularization. The choledochojejunostomy was revised twice and resulted in a high hepaticojejunostomy. Significant strictures on both the right and left hepatic ducts at the anastomosis site were unsuccessfully treated by multiple interventional radiological procedures. The option of retransplantation was seriously explored. Simpson's atherectomy device was used in a novel approach February 24, 1999, and strictures on both ducts were successfully treated. At 1-year postprocedure, the patient has normal liver function with no evidence of recurrence of the strictures. Further experience with this novel technique is required to assess its role in treating biliary strictures post liver transplantation.

Atherectomy↗
PubMed2000

Concordant prune belly syndrome in monozygotic twins.

We report 2 cases of concordant prune belly syndrome occurring in monozygotic twins. In addition to suggesting a genetic basis for this disease, our 12-year follow-up of these cases illustrates that these patients with an otherwise poor prognosis can have normal growth, development, and renal function with appropriate treatment.

Diseases in Twins↗
PubMed1999

Frasier syndrome: a cause of focal segmental glomerulosclerosis in a 46,XX female.

The description of Frasier syndrome until now has been restricted to XY females with gonadal dysgenesis, progressive glomerulopathy, and a significant risk of gonadoblastoma. Mutations in the donor splice site in intron 9 of the Wilms' tumor (WT1) gene have been shown to cause Frasier syndrome and are distinct from WT1 exon mutations associated with Denys-Drash syndrome. The WT1 gene, which is essential for normal kidney and gonadal development, encodes a zinc finger transcription factor. The intron 9 alternative splice donor site mutation seen in Frasier syndrome leads to loss of three amino acids (+KTS isoform), thus disrupting the normal ratio of the +KTS/-KTS isoforms critical for proper gonadal and renal development. This study examines two sisters with identical intron 9 mutations. The proband carries a classic diagnosis of Frasier syndrome with 46,XY gonadal dysgenesis, whereas her sister has progressive glomerulopathy but a 46,XX karyotype and normal female development. This indicates that the proper WT1 isoform ratio is critical for renal and testicular development, but apparently does not affect either ovarian development or function. It is proposed that the clinical definition of Frasier syndrome should be broadened to include 46,XX females with normal genital development and focal segmental glomerulosclerosis associated with a WT1 intron 9 donor splice site mutation. Nephrologists need to consider the possibility of this heritable syndrome in evaluation of females with focal segmental glomerulosclerosis and to consider their risk for gonadal malignancy, as well as the risk for kidney disease, gonadal dysgenesis, and malignancy in their offspring.

Adolescent↗
PubMed1996

A survey of physician use of treatment methods for functional enuresis.

We report a survey of treatment methods used by primary care physicians in Worcester, Massachusetts in the treatment of functional enuresis. The results suggest a predominance in the use of psychobehavioral over pharmacologic treatment methods and are in contrast to previous studies. Ninety-one percent of physicians reported recommending the use of rewards to control enuresis. Eighty percent of physicians reported using the "bell-and-pad" conditioning method for treatment of functional nocturnal enuresis, contrasted with 5% of physicians reported in previous studies. Fifty-two percent of physicians reported using medication for treatment of functional nocturnal enuresis, despite substantial evidence of its dubious efficacy.

Attitude of Health Personnel↗
PubMed1995

The severe perinatal form of autosomal recessive polycystic kidney disease maps to chromosome 6p21.1-p12: implications for genetic counseling.

Autosomal recessive polycystic kidney disease (ARPKD) is a one of the most common hereditary renal cystic diseases in children. Its clinical spectrum is widely variable with most cases presenting in infancy. Most affected neonates die within the first few hours of life. At present, prenatal diagnosis relies on fetal sonography, which is often imprecise in detecting even the severe form of the disease. Recently, in a cohort of families with mostly milder ARPKD phenotypes, an ARPKD locus was mapped to a 13-cM region of chromosome 6p21-cen. To determine whether severe perinatal ARPKD also maps to chromosome 6p, we have analyzed the segregation of seven microsatellite markers from the ARPKD interval in 22 families with the severe phenotype. In the majority of the affected infants, ARPKD was documented by histopathology. Our data confirm linkage and refine the ARPKD region to a 3.8-cM interval, delimited by the markers D6S465/D6S427/D6S436/D6S272 and D6S466. Taken together, these results suggest that, despite the wide variability in clinical phenotypes, there is a single ARPKD gene. These linkage data and the absence of genetic heterogeneity in all families tested to date have important implications for DNA-based prenatal diagnoses as well as for the isolation of the ARPKD gene.

Amniocentesis↗
PubMed1992

Congenital nephrotic syndrome: preemptive bilateral nephrectomy and dialysis before renal transplantation.

Congenital nephrotic syndrome (CNS) is a rare and uniformly fatal disease if it is not treated. Although renal transplantation has been a successful treatment, there remains a high mortality rate during the first year of life before transplantation. From 1979 to 1987, four patients with CNS, all of whom died before they could undergo renal transplantation were treated. On the basis of this clinical experience, early elective bilateral nephrectomy and dialysis for infants with CNS were initiated to improve overall outcome. From 1987 to 1989, this protocol has been used on four consecutive patients with CNS. In these patients, bilateral nephrectomy was performed only after patients suffered a serious CNS-related complication that occurred between 4 and 6 months of age. Despite nephrectomy and the need for chronic dialysis, all patients grew at normal or accelerated rates. By 16 months of age, all patients underwent successful renal transplantation.

Female↗