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Biomedical subjects

E Yunis

Publications and source records attributed to E Yunis.

At least 37 records · Page 2Linked to original sources
PubMed1995

Chromosome evolution in retinoblastoma.

An attempt to reconstruct the chromosome evolution in 19 primary retinoblastoma tumors was made, taking into consideration the frequencies of the rearrangements for each case. The rearrangements were classified as early or late according to their frequency. Early chromosome rearrangements were +1q, +6p, -13/del(13q), -16/del(16q), -17/del(17p), and late rearrangements were (in decreasing order) -8, -17/del(17p), -22, +3/+3q, -4, -19, +1q, +7/+7q, -14, +21. Chromosome evolution was reconstructed by the analysis of parsimony using programs of phylogenetic inference, which belong to the computer package PHYLIP. Results of the reconstruction of chromosome evolution suggest that there are two types of retinoblastoma tumors which can be distinguished based on chromosome imbalance, and correlate with the presence or absence of additional copies of the short arm (p) of chromosome 6. Tumors with additional 6p chromosome had marked heterogeneity, with a high frequency of early as well as late chromosome changes. By contrast, tumors with a normal 6p complement had the fewest chromosome changes and, in particular, a lower frequency of late changes.

Biological Evolution↗
PubMed1995

Polymorphic human specific Alu insertions as markers for human identification.

Alu sequences represent the largest family of short interspersed repetitive elements (SINEs) in humans with 500 000 copies per genome. Recently, one Alu subfamily was found to be human specific (HS). We originally described the use of polymorphis HS Alu insertions as a tool in population studies and recently as tools in DNA fingerprinting and forensic analysis. In this report, we will use this simple polymerase chain reaction (PCR) base technique for the detection of HS Alu insertion polymorphisms. We will test the resolving power of this DNA profiling approach in both population genetics and paternity assessment. At the population level, we will describe the genotypic distribution of five polymorphic Alu insertions among 3 populations from the American continent, one of African origin, the other two Amerindians. Insight into their relationships will be provided. At the family level, we will examine one European American family of seven individuals and the same pedigree will also be characterized by way of the two systems currently and widely used to ascertain paternity: PCR-sequence specific oligonucleotide probe hybridization (PCR-SSO) and PCR-restriction fragment length polymorphism (PCR-RFLP) of human leucocyte antigen (HLA) class II molecules, and a standard RFLP protocol used in forensic casework and paternity studies. The importance and strengths of the methods as well as its perspectives for future use in filiation studies will be evaluated.

Forensic Medicine↗
PubMed1995

Lobar emphysema associated with respiratory syncytial virus pneumonia.

The etiology of infantile lobar emphysema is frequently unknown; however, partial airway obstruction is most often implicated. Although infection and lobar emphysema have been linked previously, their cause-and-effect relationship is unclear. We present the clinical, radiographic, and pathologic findings in a 9-day-old infant with acute bronchiolitis due to respiratory syncytial virus (RSV) and a clinical and radiographic appearance suggestive of lobar emphysema. Pathologically, there was diffuse papillary overgrowth of the bronchiolar epithelium due to RSV infection which produced narrowing of the affected airways and alveolar overinflation. We speculate that in this instance RSV infection was at least associated with the development, and was perhaps the direct cause of lobar emphysema.

Bronchiolitis, Viral↗
PubMed1995

Progressive varicella presenting with pain and minimal skin involvement in children with acute lymphoblastic leukemia.

PURPOSE: Here we report the experience at the Children's Hospital of Pittsburgh (CHP) with varicella zoster virus (VZV) in children with acute lymphoblastic leukemia (ALL). This record review was prompted by a patient with ALL who died suddenly of varicella hepatitis within 24 hours of presentation with a single skin lesion. METHODS: We reviewed the medical records of children diagnosed with ALL at the CHP from January 1984 through December 1993, who subsequently developed VZV infection. RESULTS: Of 294 patients aged 0 to 15 years, 41 (14%) were identified as having had 42 episodes of VZV infection. Twenty patients (49%) had received prophylaxis with varicella zoster immunoglobulin (VZIG), and all 39 patients in whom the diagnosis was made premortem were treated with acyclovir. Twenty-nine of the 42 cases (70%) had disease limited to the skin. Thirteen cases (30%) had extracutaneous involvement, and five of these episodes (12% of all cases) ended in death. Risk factors for progressive varicella included age greater than 6 years and intensive immunosuppressive therapy at the time of exposure. Six of eight patients with progressive varicella, including two who died, had received VZIG. The clinical presentation in 10 of 13 patients with progressive disease and in four of five patients who died was dominated by severe abdominal and/or back pain. In seven cases, these symptoms preceded the development of skin lesions by several days, and in six patients were associated with extensive involvement of the spleen by varicella, as demonstrated histopathologically by the presence of Howell-Jolly bodies on peripheral-blood smear or radiographically. No patient with uncomplicated varicella was reported to have had premonitory pain. CONCLUSION: Recognition of these prodromes and suspicion of varicella even in the absence of skin lesions and even in children with a history of prior disease or VZIG administration should prompt early diagnostic and therapeutic measures.

Abdominal Pain↗
PubMed1994

Morphologic and immunophenotypic characterization of a cell line derived from liver tissue with Epstein-Barr virus associated post-transplant lymphoproliferative disease.

A B-cell line was established from the liver of an 11-yr-old boy with Epstein-Barr virus (EBV)-associated post-transplant lymphoproliferative disease (PTLD). The cells were morphologically heterogenous, CD10 (CALLA) negative, and expressed several B-cell antigens, including CD23, in a manner reminiscent of lymphoblastoid cell lines (LCLs) reported in the literature. However, the cells also showed expression of the CD77 antigen, carried a 14q32+ chromosomal anomaly, and showed IgM-kappa immunoglobulin isotype restriction immediately after their outgrowth in culture. These latter properties are typically associated with Burkitt's lymphoma cell lines rather than LCLs. Aberrant expression of the L60 antigen on these B-cells was found as additional evidence of altered growth regulation in these cells. EBV infection was demonstrated by the abundant expression of EBNA-2 and LMP viral antigens in culture. The cell line described should be useful in planning in vitro experiments designed to understand the factors that modulate the growth of PTLD in vivo.

Antigens, CD↗
PubMed1994

Phenotype variants, malignancy, and additional copies of 6p in retinoblastoma.

Thirty-four of 51 (67%) primary retinoblastomas were analyzed cytogenetically to characterize the type of events that result in additional copies of the short arm of chromosome 6 and their implications in this malignancy. Of the 34 tumors studied, additional copies of 6p were found in 14 (41%). The most frequent mechanism involved to produce additional 6p chromosomes was the isochromosome i(6p) (65%). Other mechanisms were translocations of 6p to other chromosomes (14%), tetrasomy 6 (14%), and additional derived 6q- (7%). Although i(6p) is considered a chromosome rearrangement almost exclusive to retinoblastoma, its significance remains unknown in the carcinogenesis or the progression of retinoblastoma. Our work suggests strongly that the presence or absence of additional copies of 6p defines two categories of retinoblastoma; additional 6p is associated with an undifferentiated histologic degree and invasion of the optic nerve.

Chromosomes, Human, Pair 6↗
PubMed1994

Recurrent and de novo giant cell hepatitis after orthotopic liver transplantation.

This study examines the clinical and pathologic course of seven patients who developed giant cell hepatitis (GCH) after liver transplantation. Five of these patients also had GCH as their native liver disease and experienced a particularly aggressive course because of recurrent disease, beginning 1-21 months after transplantation. Two died and another two required hepatic retransplantation because of recurrent GCH; one of them had GCH recurrence in a second liver allograft. A remaining patient with recurrent GCH is alive 6 years after transplantation. Follow-up of the two patients who developed de novo GCH between 8 and 24 months after hepatic transplantation showed active micronodular cirrhosis in one and persistent giant cell transformation in the other at 4 years. All of the patients were serologically negative for hepatitis C virus, hepatitis B virus, and human immunodeficiency virus before transplantation. One patient became positive for hepatitis C virus after transplantation. Two patients had an associated autoimmune syndrome, which could have been accounted for by the GCH. None had a history of drug exposure. Interestingly, human papilloma virus (HPV) type 6 was detected by PCR analysis of liver tissues with GCH from one of three cases before and three of four cases after transplantation. This small series shows that GCH occurs in liver allografts, but it is uncommon. Documentation of recurrent disease in five of seven patients suggests that GCH in a subgroup of patients may be related to a transmissible agent, or that a particular recipient may injure livers in a way that elicits a giant cell reaction.

Adult↗
PubMed1993

Liver transplantation for type I and type IV glycogen storage disease.

Progressive liver failure or hepatic complications of the primary disease led to orthotopic liver transplantation in eight children with glycogen storage disease over a 9-year period. One patient had glycogen storage disease (GSD) type I (von Gierke disease) and seven patients had type IV GSD (Andersen disease). As previously reported [19], a 16.5-year-old-girl with GSD type I was successfully treated in 1982 by orthotopic liver transplantation under cyclosporine and steroid immunosuppression. The metabolic consequences of the disease have been eliminated, the renal function and size have remained normal, and the patient has lived a normal young adult life. A late portal venous thrombosis was treated successfully with a distal splenorenal shunt. Orthotopic liver transplantation was performed in seven children with type N GSD who had progressive hepatic failure. Two patients died early from technical complications. The other five have no evidence of recurrent hepatic amylopectinosis after 1.1-5.8 postoperative years. They have had good physical and intellectual maturation. Amylopectin was found in many extrahepatic tissues prior to surgery, but cardiopathy and skeletal myopathy have not developed after transplantation. Postoperative heart biopsies from patients showed either minimal amylopectin deposits as long as 4.5 years following transplantation or a dramatic reduction in sequential biopsies from one patient who initially had dense myocardial deposits. Serious hepatic derangement is seen most commonly in types I and IV GSD. Liver transplantation cures the hepatic manifestations of both types. The extrahepatic deposition of abnormal glycogen appears not to be problematic in type I disease, and while potentially more threatening in type IV disease, may actually exhibit signs of regression after hepatic allografting.

Amylopectin↗
PubMed1993

Intestinal transplantation in children under FK 506 immunosuppression.

Intestinal transplantation, solitary (n = 3) or in combination with the liver (n = 7), was performed in 10 pediatric patients with intestinal failure. The liver was only replaced if there was liver failure and portal hypertension. Immunosuppression was based on FK 506. Two patients died, one of graft-versus-host disease and one of lymphoproliferative disease. One patient as still in the intensive care unit 1 month posttransplantation due to perioperative complications. The function of the intestinal grafts in the remaining patients is normal. All nutrition and medications including immunosuppression are being administered enterally. This series indicates that small bowel transplantation, alone or in combination with the liver, is feasible in pediatric patients.

Child↗
PubMed1991

Obstructing endobronchial fibrous histiocytoma: potential for lung salvage.

In the past 10 years two children, ages 3 1/2 and 7 years, have been seen with central endobronchial fibrous histiocytoma causing complete atelectasis. Each child had a 4- to 6-month history of cough, dyspnea and fever. After antibiotic failure, x-rays demonstrated complete unilateral lung collapse. Bronchoscopy in case 1 demonstrated total occlusion of the left mainstem bronchus with 80% stenosis of the right. Left pneumonectomy was ultimately performed with removal of tumor frm the right bronchus. Ten years later the patient is well. Case 2 had an extrinsic etiology ruled out by computed tomography scan. Ventilation/perfusion scan showed no ventilation and only faint perfusion of the involved lung. Pulmonary function testing showed moderate to severe restrictive changes with air trapping. Total obliteration of the left mainstem with tumor projecting into the carina was observed on bronchoscopy. Endoscopic resection was not felt to be safe. Thoracotomy showed a totally atelectatic, edematous lung filled with pus. The left main bronchus was opened, the tumor removed, and the distal bronchus lavaged and selectively ventilated. Partial lung expansion was obtained. The child is well 1 1/2 years later with a normal chest radiograph, pulmonary function tests, and bronchoscopy. Fibrous histiocytomas of the lung, if in a central endobronchial location, can cause complete lung collapse. A combination of tumor resection, lavage, and selective ventilation should be attempted as an alternative to pneumonectomy, even if the lung appears to be nonsalvageable.

Biopsy↗
PubMed1990

Primary alveolar capillary dysplasia.

We describe two neonates with a lethal form of pulmonary maldevelopment. Both infants had bilateral dysplastic immature lungs with poor capillary formation and lack of alveolar development. This rare entity should be considered in the differential diagnosis of a newborn infant with mild diffuse radiographic pulmonary abnormality and severe respiratory distress.

Capillaries↗
PubMed1990

Genetics of survival in mice: subregions of the major histocompatibility complex.

In this study of murine survival, 422 F1 hybrids between DBA/2J (D2) female mice and C57BL/10 (B10) background H-2 congenic male mice (11 strains), 88 F1 hybrids between B10 female mice and B10 background H-2 congenic male mice (3 strains), and 532 control mice from the 11 parental B10 background H-2 congenic mice were bred over a period of 2 yr. Toward the end of the breeding period there was documentation of Sendai infection in the mouse rooms. All analyses were done separately for the two sexes. Although it did not appear that an unusually high number of mice died during the time the colony was infected with Sendai, there was a highly significant tendency for mice who were younger at the time of the Sendai infection to have shorter survival than mice who were older at that time point. The effect of birth date on survival was approximately as significant as the effect of strain on survival. Hence all analyses of genetic effects on survival were either done within subsets of mice born in the same quarter of a particular year or else included date of birth variables in survival models. Of the 18 possible comparisons of pairs of strains which overlapped in birth dates and differed only in the D end of H-2, five were associated with highly significant survival differences. Of the 11 pairs of strains which overlapped in birth date and differed only in the K end of H-2, none was associated with significant survival differences.(ABSTRACT TRUNCATED AT 250 WORDS)

Age Factors↗