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Biomedical subjects

B Stark

Publications and source records attributed to B Stark.

At least 37 records · Page 2Linked to original sources
PubMed1998

Molecular analysis of childhood acute lymphoblastic leukemia in Israel.

Ninety-two Israeli children with acute lymphoblastic leukemia (ALL) (67 B-lineage and 25 T-lineage) were analyzed for the immunological antigen receptor gene configuration. Thirty-nine of the patients (27 B-lineage and 12 T-lineage) relapsed. The incidence of the identified rearrangements within the immunoglobulin heavy chain (IgH) and T-cell receptor (TCR)beta, gamma and delta genes, at diagnosis, was in accordance with previous studies from other countries. Furthermore, the clinical relevance of bi/oligoclonal status, at diagnosis, and clonal selection was determined in this long-term follow-up study (median 112 months). A similar relapse rate was observed among the B-lineage patients with bi/oligoclonal and monoclonal patterns indicated by IgH gene rearrangement. Based on our results, we suggest that bi/oligoclonality has no prognostic significance (P=0.8533). Clonal variations between diagnosis and subsequent relapses were detected in 60% (12/20) of the patients; 64% (7/11) B-lineage and 55% (5/9) T-lineage. Clonal selection significantly correlated with shorter duration of remission and earlier recurrence (P=0.0025).

Adolescent↗
PubMed1998

Distribution of human Pacinian corpuscles in the hand. A cadaver study.

The subcutaneous distribution and number of Pacinian corpuscles were studied in ten fresh cadaver hands. They were found to cluster close to nerves and vessels at the metacarpophalangeal joints and the proximal phalanx. The total mean number in the hand was 300 (192-424). The percentage of the total was 44 to 60% in the fingers, 23 to 48% in the metacarpophalangeal area and 8 to 18% in the thenar and hypothenar regions. Corpuscles in palmar skin overlying the distal phalanx were smaller than receptors in the metacarpophalangeal area. The lowest density of corpuscles was along the nerves and vessels of the middle phalanx.

Aged↗
PubMed1998

The free radical forearm flap: a reliable method for reconstruction of the laryngohypopharynx after in-continuity resection.

Between 1992 and 1996 14 patients with a squamous cell carcinoma of the laryngohypopharynx underwent tumour resection and primary reconstruction with the free volar forearm flap. Tumour resection was performed by a head and neck surgeon and reconstruction by a plastic surgeon. Preoperative radiotherapy was given to 13 patients and postoperative radiation to one patient. Thirteen patients were male and one patient was female, with a mean age of 66 years (range 53-79 years). The flap was harvested from the left forearm in 12 cases and from the right in two. The mean operation time was 12 h (range 11-20 h), and the mean intraoperative bleeding volume was 700 ml (range 400-1,000 ml). Twelve of 14 flaps survived. One flap was totally lost 3 weeks postoperatively and another was partially lost 2 weeks after surgery. Overall revisional surgery was carried out in six patients. Infections and fistulae at the neck occurred in six of the 14 patients. Six of the 14 patients were alive at follow-up. One patient died of an acute haemorrhage from an oesophageal ulcer 2 months after surgery, one patient died of a second primary oesophageal cancer and six patients developed recurrences. The mean survival time was 26 months (range 2-43 months).

Aged↗
PubMed1998

Putting a lid on injury costs: the economic impact of the California motorcycle helmet law.

BACKGROUND: This study analyzed the effect of California's motorcycle helmet law on injury costs. METHODS: An economic evaluation was performed using state hospital discharge data, county-level cost data, and statewide crash reports to estimate the costs, charges, and lost productivity from motorcycle injuries. Total and per person costs and changes in these costs were estimated. RESULTS: Total medical care costs were $35 million less in 1993 than in 1991, a reduction of 35%. Costs decreased for all payer categories, and 73% of the reduced hospitalization costs were attributable to reduced costs for patients with head injuries. Initial hospital costs for patients with head injuries were $18,527 compared with $10,350 for patients without head injuries. CONCLUSION: During the first 2 years of implementation of California's helmet law, there were reduced costs for injuries and fatalities and large dollar savings to the state and other payers compared with the previous year.

Accidents, Traffic↗
PubMed1997

p53 mutation as the second event in juvenile chronic myelogenous leukemia in a patient with neurofibromatosis type 1.

BACKGROUND: Young patients with neurofibromatosis type 1 (NF1) are at increased risk of developing various malignancies, most of which are myeloid disorders. The observed loss of NF1 allele in the myeloid malignancies of NF1 patients suggests a role of NF1 as a tumor suppressor gene. Loss of 17p was found to be quite frequent in neural crest tumors from patients with NF1, raising the possibility of p53 tumor suppressor gene involvement in other NF1-related tumors. METHODS: The authors studied mutations in the NF1 and p53 genes, using loss of heterozygosity, single strand conformation polymorphism, heteroduplex and sequencing analyses. RESULTS: An NF1 germline mutation was identified in exon 31 of a child who developed juvenile chronic myelogenous leukemia (JCML). The mutation was segregated within the proband's family. A 14bp deletion at exon 6 of the p53 gene was observed when JCML was diagnosed, and the wild-type p53 allele was lost during progression of the disease. No loss of the normal NF1 allele could be detected. CONCLUSIONS: A germline mutation in the NF1 gene and sequential inactivation of p53 alleles in the malignant clone of JCML raise the possibility of a correlation between NF1 and p53 genes in the tumorigenesis of JCML.

Child, Preschool↗
PubMed1997

A novel germ line p53 mutation in intron 6 in diverse childhood malignancies.

Screening for p53 mutations in exons 5 to 8 in 124 pediatric malignancies identified 18 abnormal shifts using single strand conformation polymorphism: 12 were missense mutations and in 6, no mutation was detected in the exon or in the splice donor acceptor sequences. Sequencing was then performed in the adjacent introns, revealing a G to A base substitution at 39 base pairs upstream to exon 7. This mutation was identified in the germ line of five of the patients, and also in the father of one, whose parents were available. For comparison, of the 184 normal controls similarly screened, only one had this mutation (P=0.036). Positive staining of p53 protein was observed in three of the paraffin embedded tissues that were available: brain tumor, rhabdomyosarcoma, and lymphocytes from a normal lymph node from the rhabdomyosarcoma patient. All tumors with the identified intron mutation were Li-Fraumeni syndrome tumors. Sequencing of all exons including splice sites was performed and revealed no mutation. We suggest that this mutation in intron 6 of the p53 gene stabilizes the wild type p53 protein, resulting in its abnormal accumulation. Mutations in the noncoding region of p53 should be further studied.

Brain Neoplasms↗
PubMed1997

Exon 5 mutations in the p53 gene in relapsed childhood acute lymphoblastic leukemia.

Thirty seven children with relapsed acute lymphoblastic leukemia (ALL), 25 B-lineage and 12 T-lineage, were analyzed for p53 alterations at different stages of the disease. Loss of heterozygosity (LOH) was detected in the relapse phase in three patients. p53 mutations were identified by single strand conformation polymorphism (SSCP) and sequencing analyzes in seven of the 37 ALL patients (19%); three B-lineage (12%) and four T-lineage (33%). Most of the mutations were identified in the relapse phase. In two exceptional cases, one of the mutations was indicated as a germ line and the other was already present at diagnosis. No p53 mutation was identified in any of the other 20 available bone marrow samples obtained at diagnosis. No correlation between the p53 status and clinical outcome could be determined. The majority of the mutations (four out of seven, 57%) were clustered at exon 5. Our data implicate that p53 exon 5 is a frequent site of mutations in relapsed childhood ALL.

Adolescent↗
PubMed1997

Prognostic relevance of genetic alterations in the p32 region of chromosome 1 in neuroblastoma.

Thirty-six neuroblastomas were analysed for chromosome 1p alterations and their prognostic relevance. In 72% (26/36) of the patients, 1p alterations were identified in the tumours using 24 polymorphic loci ranging 1p22-1p36.3. LOH was identified in 25 children, and in 10 additional allelic imbalance was identified. In 1 child allelic imbalance was the sole alteration. Imbalance was termed as gain in intensity of one allele with or without reduction of the second allele (< 50%). The imbalance was identified in adjacent regions to the LOH. Two distinct regions of LOH were identified: 1p36.1-p36.3 and 1p31-p32. The common imbalance regions overlapped the common LOH regions. The children with LOH and imbalance had improved survival (100%) compared to the children with LOH only (26%) after 48 months of follow-up. The imbalance had an advantageous effect that is reflected by the improved outcome in children with other unfavourable clinical features.

Alleles↗
PubMed1997

Additional chromosome 1q aberrations and der(16)t(1;16), correlation to the phenotypic expression and clinical behavior of the Ewing family of tumors.

The cytogenetic hallmark of the Ewing family of tumors is t(11,22)(q24;q12) in its simple, complex or variant forms and/or its molecular equivalent EWS/FLI, EWS/ERG rearrangement. Additional secondary consistent chromosomal aberrations include the der(16)t(1;16) and frequently, other chromosome 1q abnormalities leading to 1q overdosage. We studied whether these secondary cytogenetic changes are correlated to clinical features and phenotypic expression which may have a prognostic impact. Successful cytogenetic evaluation was performed in eight patients with a Ewing family tumor. In four of these, in addition to the primary aberration, chromosome 1q overdosage (including two with der (16)t(1;16)) was noted. Out of these four patients, two had metastatic disease at the time of evaluation, while in the other four, disease was localized. Morphologically, the tumors with the additional 1q aberration, revealed the pPNET subtype more frequently than the typical Ewing. They also expressed a higher degree of neural differentiation by neural marker immunocytochemistry, in comparison to tumors without the 1q aberration. Determination of the prognostic significance of this finding requires a longer follow-up with a larger group of patients.

Adolescent↗
PubMed1996

Clinical features and studies of erythropoiesis in Israeli Bedouins with congenital dyserythropoietic anemia type I.

Congenital dyserythropoietic anemia (CDA) type I is a rare macrocytic anemia of unknown etiology. In the present study, we redefined the clinical and laboratory picture of CDA type I, some of its pathogenic aspects, and the association with thalassemia-like features in 20 patients, all of whom belong to one Bedouin tribal group and are probably descended from a common ancestor. In each case ultrastructural studies of bone marrow (BM) erythroblasts showed the classic morphological findings of CDA type I. Serological tests for CDA type II were negative. The clinical picture was variable, but mostly benign. Some patients displayed elevated hemoglobin A2 levels or high ratio of alpha- to non-alpha- globin. However, neither family studies nor complete sequence analysis of the beta-globin was compatible with beta-thalassemia. Increased erythropoiesis was manifested by a high number of BM erythroid burst-forming units. Serum erythropoietin was also elevated. BM flow cytometry studies demonstrated arrest of erythroid precursors in the S phase of the cell cycle. The ultrastructural morphological features of the erythroid precursors, showing peripheral chromatin condensation, suggest apoptosis. Additional studies are indicated to define the molecular basis of this disease.

Adolescent↗
PubMed1996

Metastatic extraosseous Ewing tumor. Association of the additional translocation der(16)t(1;16) with the variant EWS/ERG rearrangement in a case of cytogenetically inconspicuous chromosome 22.

In Ewing sarcoma and related tumors, recently referred to as the Ewing tumors (ET), t(11;22)(q24q12) and its molecular genetic equivalent, the EWS/FLI-1 rearrangement, characterize approximately 85% of cases, while variant aberrations are rare. A second nonrandom aberration in ET is the unbalanced t(1;16) accompanying the t(11;22) in roughly 17% of cases. We present a 17-year-old man with estraosseous ET and multiple metastases, in whom the only cytogenetically detectable chromosomal aberration was der (16)t(1;16)(q12;q11.2). This finding was confirmed by fluorescence in situ hybridization (FISH). Using the RT-PCR technique, a variant EWS/ERG fusion transcript was noted, resulting from a t(21;22) chromosomal rearrangement which recently demonstrated in roughly 10% of ET. However, data on possible biologic differences in EWS/FLI-1 versus EWS/ERG expressing ET are as yet unavailable. This is the first reported combination of t(1;16) with the EWS/ERG rearrangement. A possible significance of this finding for Ewing tumor progression is discussed.

Adolescent↗
PubMed1996

Hodgkin disease in children: reduced tailored chemotherapy for stage I-II disease.

PURPOSE: Between January 1982 and January 1994, 46 children with stage I-II Hodgkin disease were treated with a tailored regimen to maintain a high cure rate while reducing toxicity. PATIENTS AND METHODS: Forty-six previously untreated children with stage I-II Hodgkin disease received four to six courses of cyclophosphamide, oncovin, procarbazine, and prednisone (COPP) alternating with doxorubicin, bleomycin, vinblastine, and dacarbazine (ABVD), tailored according to clinical response. Staging was based on various imaging modalities and gallium scan, but surgical staging was not performed. Radiotherapy was given only to bulky mediastinal disease. RESULTS: The median age at diagnosis was 13 years (range 4-18) and only 4 of 46 children had B symptoms. The majority (31 of 46) had stage II disease; 10 had bulky mediastinal disease. Nodular sclerosis histology predominated (32 of 46). Gallium scan was positive in 66% of the patients who were evaluated. Forty-three patients (93%) achieved complete remission after planned therapy. Thirty-six patients (78%) received chemotherapy alone, and 10 (22%) received combined-modality treatment. Fifteen children (33%) completed treatment with only four courses of COPP/ABVD. Overall freedom from relapse was 87% and overall survival was 98% with a median follow-up of 5 1/2 years. Long-term treatment-related morbidity was found mainly in patients receiving radiotherapy. CONCLUSION: Comprehensive clinical staging combined with tailored COPP/ABVD therapy according to response results in excellent disease control and may reduce toxicity.

Adolescent↗
PubMed1996

[Endoscopic operation or conventional open surgical technique in carpal tunnel syndrome: a prospective comparative study].

A prospective, randomized study was performed on twenty patients with bilateral carpal tunnel syndrome. Each patient had traditional open surgery on one side and single portal endoscopic release on the other. Follow-up examinations were undertaken at two, four, and twelve weeks and at eight months. The period between the two operative procedures was meanly three months (two to four months). The dominant hand was released endoscopically according to Agee in eleven cases and the non-dominant hand in nine cases. Sixteen out of twenty patients preferred the endoscopic release. Complications did not occur more frequently in patients operated endoscopically. The preoperative symptoms were relieved equally in both groups. Return to work or leisure activities was earlier in the endoscopic collective (20 days) in contrast to 30 days in the traditional operated group.

Adult↗
PubMed1995

A distinct subtype of M4/M5 acute myeloblastic leukemia (AML) associated with t(8:16)(p11:p13), in a patient with the variant t(8:19)(p11:q13)--case report and review of the literature.

Acute myeloblastic leukemia (AML) with t(8:16) or its variant t(8:V) has been rarely reported. A high proportion of patients are infants and children, often with a bleeding tendency and disseminated intravascular coagulopathy (DIC). Only one-third of the de novo patients remain in the first complete remission following multiagent chemotherapy and bone marrow transplantation (BMT). Morphocytochemically, the disorder is classified as an M5, M4, or M4/M5 variant. In the presented case, with the variant t(8:19)(p11:q13), comprehensive light and electron microscopic blast cell characterization showed monocytic and granulocytic features compatible with the M4 subtype (on the monocytic predominance range of the French-American-British classification scale). Although hemophagocytosis, one of the hallmarks of the disease, was rare in our patient, numerous autophagic vacuoles were present. Immuno- and genotyping showed a myelomonocytic phenotype with no evidence of early progenitor antigen expression or mixed leukemia. These results and those of previous reports support the high specificity of t(8:16) or its variants to the unique M4/M5 type leukemia and the role of a gene on 8p11 in this specific transformation.

Adolescent↗