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Biomedical subjects

E Yunis

Publications and source records attributed to E Yunis.

At least 19 recordsLinked to original sources

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

Partial trisomy 3q.

A new case of partial trisomy 3q is reported in a 5-year-old female with severe congenital malformations and psychomotor retardation. A review of the literature, with a total of 11 patients, allows us to conclude that the clinical picture reminiscent of the Cornelia de Lange syndrome is caused by the trisomic state.

Abnormalities, Multiple

Direct duplication 2p14 to 2p23.

A malformed male newborn was first diagnosed as having Smith-Lemli-Opitz syndrome. Extensive cytogenetic studies, including Q, G, C, R and T banding and BudR treatment, were applied, finally leading the authors to conclude that the patient had a partial 2p trisomy caused by direct duplication 2p14 to 2p23. This was a de novo chromosome abnormality, as both parents had normal karyotypes.

Abnormalities, Multiple

Partial trisomy-5p.

Two sibs with partial trisomy-5p are reported. Their father is the carrier of a balanced translocation 46,XY,t(4q+;5p-). Twelve cases of partial trisomy-5p--including our two patients--have been reported. The most common abnormalities found were mental retardation, short stature, dolichocephaly, prominent nasal bridge, prognathism, seizures, hypotonia, ear abnormalities, increased ulnar loops on the fingertips, and cryptorchidism in affected males.

Abnormalities, Multiple

Contrasting patterns of newer histocompatibility determinants in patients with rheumatoid arthritis and systemic lupus erythematosus.

The Ia alloantigens as measures of different alleles of loci in the major histocompatibility complex were determined in patients with systemic lupus erythematosus (SLE) or rheumatoid arthritis (RA). The Ia specificities of reagents used were defined by their pattern of reaction with lymphoblastoid lines derived from normal donors homozygous for HLA-D determinants. The reagent specificities included those associated with a single Dw type as well as those reacting with a single specificity shared by several Dw types. Patients with RA had a marked elevation in the frequency of alloantigens detected by reagent sera that recognize various determinants shared by cell lines from HLA-Dw4, Dw7, or Dw10 individuals (Ia 4-7-10). The frequency of mixed lymphocyte culture alleles Dw4 and Dw10 was found to be increased; however this elevation did not approach the higher frequency for the serologically determined antigens of the Ia 4-7-10 group. In contrast, patients with SLE had an increased frequency of reactions with the reagent alloantisera defined by reactions with either HLA-Dw2 or Dw3 positive cell lines. The data suggest that immunogenetic factors are relevant to both groups of patients, but that these are entirely distinct for each disease.

Arthritis, Rheumatoid

Yq deletion, aspermia, and short stature.

A large Yq deletion involving both the fluorescent and part of the non-fluorescent segment in a 36-year-old phenotypic normal male is presented. His short stature and aspermia gives strong support, after a complete review of the literature, to the existence of factors involved in the control of both characteristics in the non-fluorescent segment of the long arm of chromosome Y, distally within band 11.

Adult

Partial trisomy 16q-.

A 5-month-old female was found with a 16q- trisomy; her mother was the carrier of a balanced translocation 46,XX,t(15p+;16q-)(15p12;16q11). This is the first report in the literature of a liveborn with this chromosome abnormality.

Abnormalities, Multiple

"De novo" trisomy 1q32 leads to 1qter and monosomy 3p25 leads to 3pter.

Minor abnormalities are described in an 11-month-old female in which a "de novo" trisomy 1q32 leads to lqter and a monosomy 3p25 leads to ter has been produced. The amount of the exceeding material in this case is less than that found in previous reports of partial trisomy 1q and in cases of parental 1q balanced translocations which has originated recurrent abortions.

Aneuploidy

The effects of transfusion of frozen-thawed deglycerolized red cells on renal graft survival.

In patients that received transplants of cadaver kidneys, prior transfusion improves the prognosis for graft survival. Patients receiving frozen-thawed red cells have better 1-year survival rates than patients given other forms of red cells. The effect of prior transfusions is minimal in patients that recieved transplants of kidneys from living related donors.

Blood Preservation

X/XYq - mosaicism and mixed gonadal dysgenesis.

A non-fluorescent Y chromosome was observed in a phenotypic male with 45,X/46,XYq-mosaicism and mixed gonadal dysgenesis. Q-banding of the father's chromosomes showed a normally fluorescent Y. Measurements of the Y chromosomes in the father and the patient showed a significant difference in length. Evidence for translocation of the Y fluorescent segment to another chromosome was lacking in the present case.

Child, Preschool

Genus Aotus Q- and G-band karyotypes and and natural hybrids.

Q- and G-banding studies of Aotus trivigatus trivirgatus and Aotus trivirgatus griseimembra are presented. After the analysis of 8 specimens, 2 A.t. trivirgatus and 6 A.t. griseimembra and the review of the literature on the field we state the existence of two different karyotypes, 2n = 54 and 2n = 50, for A.t. trivirgatus and three different karyotypes, 2n = 54, 2n = 52 and 2n = 50, for A.t. griseimembra. It was found that Robertsonian translocations were the mechanism involved in the numerical reduction of the chromosomes. The data presented include the statement of two natural hybrids and the cross-breedings which originated them.

Animals

Partial trisomy 4q.

Three new cases (one patient and two sibs) of partial trisomy 4q resulting from a parental translocation are reported. From the literature 22 cases are reviewed and the segregation risk of unbalanced and balanced translocations involving 4q chromosome is discussed.

Chromosome Aberrations

Genetics of cell-mediated lympholysis in man.

Cell-mediated lympholysis (CML) was studied in a family containing two siblings in who genetic recombinaiton had occurred in the HLA comples. In one sibling, recombination occurred between the HLA-A locus and the HLA-B locus. In the second sibling recombination occurred between the HLA-B locus and the HLA-D locus. Strong CML activity was generated in mixed lymphocyte cultures (MLC) when stimulator and responder cells differed in HLA-A, B, and D antigens. MLC involving HLA-D differences alone did not generate CML. Weak, but definite CML activity was generated during MLC with cells differing at HLA-A and HLA-B but sharing HLA-D. HLA-B antigens were good targets for lysis in all combinations studied. HLA-A antigens were poor targets in some but not in all combinations. However, combinations where HLA-A antigens seemed to be good targets could have involved HLA-B differences due to polymorphism of HLA-B7 antigens each inherited from a different parent. HLA-D antigens did not serve as targets for lysis. In three cell experiments, excellent CML activity was generated when responder cells were stimulated by HLA-D antigens and by HLA-A and B antigens present on separate stimulator cells.

Adult