Recurrent anencephaly as a primary manifestation of the acrocallosal syndrome.
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Abnormalities, Multiple↗
Biomedical subjects
M Fejgin
Publications and source records attributed to M Fejgin.
Antenatal ultrasonographic findings differentiating complete from partial agenesis of the corpus callosum.
Four cases of complete (three) and partial (one) agenesis were evaluated ultrasonographically. The frontal lobe/biparietal diameter ratio were evaluated in 113 normal fetuses and compared with those ratios in fetuses with corpus callosum agenesis. In the presence of the classic ultrasonographic features of agenesis of the corpus callosum, frontal lobe shortening, along with absence of the cavum septi pellucidi, might contribute to the diagnosis of complete agenesis of the corpus callosum and distinguish it from partial agenesis.
Adult↗
The detection of trisomies 8 and 9 in patients with essential thrombocytosis by fluorescence in situ hybridization.
Essential thrombocytosis (ET) is a clonal, chronic myeloproliferative disorder (MPD) originating from a multipotent stem cell. To date no specific cytogenetic marker has been found in ET. It was recently reported that chromosomal aberrations have been detected by fluorescence in situ hybridization (FISH) in patients with normal karyotypes or nonanalyzable metaphases. Therefore, we evaluated whether trisomies 8 and 9, which are commonly found in MPDs, can be detected in ET by FISH and compared the results with chromosome analysis. Peripheral blood mononuclear cells of patients with essential thrombocytosis were studied by classical chromosome banding and by FISH. We used biotin labeled alpha satellite of chromosome 8 and biotin labeled beta satellite of chromosome 9 as probes for the FISH studies. FISH detected 5 patients with trisomy 8 and 5 with trisomy 9 of the 18 patients evaluated. No trisomy was found by cytogenetic studies. The trisomies were detected by FISH in only a minority of the cells. No correlation was found between the presence of a trisomy and clinical characteristics. FISH is a sensitive method for the detection of trisomies 8 and 9 in patients with ET. The common finding of these chromosomal aberrations in MPD suggests that genes associated with myeloid proliferation are located on these chromosomes. Standardization of interphase cytogenetics is needed before this technique can be accepted for routine use in the clinic.
Adult↗
Differential diagnosis and management of very low second trimester maternal serum unconjugated estriol levels, with special emphasis on the diagnosis of X-linked ichthyosis.
Incorporation of maternal serum unconjugated estriol into the calculation of risk may increase the yield of serum screening performed during pregnancy for detection of fetal chromosomal and structural anomalies. The differential diagnosis of very low and undetectable levels of unconjugated estriol in maternal serum is discussed, with special emphasis on the prenatal diagnosis of X-linked ichthyosis. The prenatal detection of these findings dictates skilled genetic counseling, targeted sonographic evaluation and examination of fetal karyotype and fetal cDNA for Xp 22.32 with amniotic fluid levels of cortisol, STS, and ASC.
Adult↗
Fluorescent in situ hybridization (FISH) for the detection of trisomy 8 in acute myeloblastic leukemia.
The karyotype of acute myeloid leukemia (AML) blasts has a major prognostic importance. However conventional cytogenetic studies of AML patients may fail to reveal chromosome abnormalities. Trisomy 8 is a common numerical abnormality in all AML subtypes. We evaluated the role of fluorescent in situ hybridization (FISH) in the detection of trisomy 8 in de-novo AML, and compared the results to chromosome analysis in some patients. Cytogenetic studies were performed in 9 of 12 patients. In three patients no metaphases were obtained. Of the remaining six, trisomy 8 was only detected in the metaphases of 1 patient. In contrast, 4 patients showed +8 with FISH and one had a borderline value. We conclude that FISH is a rapid and sensitive method to detect numerical aberrations in AML. In the future larger prospective studies should explore the biological and clinical application of the FISH method in different hematological malignancies.
Adult↗
Transvaginal ultrasound-guided drainage of an ovarian abscess following in vitro fertilization.
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Abscess↗
Posterior wall cesarean section following chronic uterine torsion.
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Adult↗
Fluorescent in-situ hybridization (FISH) as an aid to marker chromosome identification in prenatal diagnosis.
Five cases of supernumerary marker chromosomes were identified in prenatal diagnosis as derived from chromosomes 18, X, and Y. One unexpected finding was in a case where the PCR was positive for the SRY gene while fluorescence in situ hybridization was positive for two X centromeres. In another case with an X derived supernumerary marker the newborn was phenotypically normal. Two women with fetal mar(18) and mar(Xp) decided to terminate the pregnancy. The fifth pregnancy had a karyotype of 46,XX,-15,+der(15)t(Y:15)(q11,23;p13). A phenotypically normal girl was born at term.
Adult↗
Fluorescence in situ hybridization for the detection of trisomies 8 and 9 in polycythemia vera.
Trisomies 8 and 9 are the most common numerical chromosome abnormalities in polycythemia vera (PCV). Their role in the pathogenesis of the disease is unclear, however, as is their diagnostic or prognostic value. We evaluated fluorescent in situ hybridization as compared to chromosome analysis for the detection of trisomies 8 or 9 in peripheral blood cells of PCV patients. We demonstrated that FISH is a more sensitive method for the detection of the abnormalities. A positive correlation between the duration of the disease and trisomy 9 was found. FISH is a sensitive, convenient, and rapid method for the diagnosis and follow-up of chromosome aberrations in patients with PCV. The application of FISH to a larger cohort of patients may provide valuable information regarding the role of the chromosomal aberrations in the initiation and progression of this disease.
Adolescent↗
Fluorescence in situ hybridization (FISH) for retrospective detection of trisomies 3 and 7 in multiple myeloma.
The malignant plasma cells of multiple myeloma (MM) have a low proliferative activity and therefore cytogenetic studies of the disease have been severely limited. We evaluated the role of fluorescence in situ hybridization (FISH) in the detection of numerical chromosomal abnormalities in early stages of myeloma and the applicability of the method to stored archival slides. Old air-dried bone marrow smears from 15 myeloma patients obtained at presentation were probed with alpha satellite DNA sequences to chromosomes 3 and 7. Numerical chromosome aberrations were found in eight (53%) of the patients, including six (of 12) with trisomy 7, and two (of eight) with trisomy 3. This study demonstrates that FISH is a sensitive method for the detection of numerical aberrations in myeloma and for the study of old slides for retrospective analysis.
Aged↗
The BCL-1, BCL-2, and BCL-3 oncogenes are involved in chronic lymphocytic leukemia. Detection by fluorescence in situ hybridization.
The putative oncogenes BCL-1, BCL-2, and BCL-3 are commonly rearranged by translocations to the immunoglobulin genes in B-cell malignancies. However, Southern blotting rarely detected their involvement in chronic lymphocytic leukemia (CLL). This discrepancy could stem from some unique features of the oncogenesis of CLL or be due to shortcomings of Southern blotting. We have therefore evaluated the role of fluorescence in situ hybridization (FISH) in the detection of these oncogenes in CLL. Twenty consecutive CLL patients were studied by FISH for the detection of BCL-1, BCL-2, or BCL-3 rearrangement and for the presence of trisomy 12. Selected patients were also evaluated by classical cytogenetic techniques and by Southern blot analysis. Juxtaposition of JH and BCL-1 was demonstrated in 10 (50%), BCL-2 in three (15%), and BCL-3 in four (20%) of the patients. Trisomy 12 was detected by FISH in 11 (55%) patients. The coexistence of trisomy 12 and translocation of the BCL-1 oncogene was common. Three of the patients had chromosomal aberrations compatible with those detected by FISH. In contrast, in none of the five patients selected by their positive FISH findings was a rearrangement demonstrated by Southern blotting. We conclude that FISH is a sensitive method for the detection of oncogene involvement in CLL. Mainly BCL-1, but also BCL-2 and BCL-3, are commonly translocated to the immunoglobulin heavy chain locus on chromosome 14. These translocations are often associated with trisomy 12. These findings indicate that the BCL oncogenes are commonly involved in CLL and lend support to the multi-hit theory of cancer development.
Aged↗
Chronic Q fever of pregnancy presenting as Coxiella burnetii placentitis: successful outcome following therapy with erythromycin and rifampin.
Chronic Q fever has been associated with endocarditis, granulomatous hepatitis, and osteomyelitis but only rarely with pregnancy. The apparent predilection of Coxiella burnetii, the organism causing Q fever, for the human placenta suggests that chronic Q fever of pregnancy is due to placentitis. We describe a patient with chronic, clinically apparent Q fever in pregnancy and a successful outcome. The diagnosis was made both by serology and by isolation of C. burnetii from the patient's serum and placenta. Therapy with erythromycin and rifampin contributed to the delivery of a healthy baby. The mother's infection was clinically cured by subsequent therapy with doxycycline and rifampin.
Adult↗
Relationship between the threshold of ovarian sensitivity to human menopausal gonadotrophin stimulation and in-vitro fertilization treatment outcome.
In a retrospective study of 813 oocyte retrieval-embryo transfer cycles in women with normal follicle stimulating hormone and luteinizing hormone concentrations, we sought to investigate the relationship between the amount of human menopausal gonadotrophin (HMG) used for ovarian stimulation and treatment outcome. Patients were divided into three groups: group A patients (495 cycles) required < 40 ampoules of HMG and had a predicted probability for pregnancy of 25% per embryo transfer; group B patients (165 cycles) required 41-77 ampoules per cycle, with a predicted probability rate for pregnancy of 5-25% per embryo transfer; and group C patients (153 cycles) required > 77 ampoules of HMG and the predicted probability for pregnancy was < 5% per embryo transfer. Groups C and A differed significantly (P < 0.005). The mean oestradiol concentration on the day of HCG administration in group C was 6412 pmol/l, and the mean number of eggs retrieved was seven. The highest success rates were found when up to 2.5 ampoules of HMG were required for each egg or 4.4 ampoules for each embryo. The lowest rates were obtained when > 4.8 ampoules of HMG were necessary for each oocyte or > 9.6 ampoules for each embryo (P < 0.005). We identified a group of infertile patients who required excessive amounts of HMG to achieve a fair degree of steroidogenesis, number of eggs and number of embryos but who had very low pregnancy rates. Although all other relevant parameters were normal, this may highlight the beginning of ovarian-gamete insufficiency before the basic hormonal status is affected. In cases of repeated failure, oocyte donation should be considered.
Drug Resistance↗
Induction of artificial endometrial cycles with oestradiol implants and injectable progesterone: establishment of a viable pregnancy in a woman with 17-alpha-hydroxylase deficiency.
Repeated attempts with oral oestrogens and injectable progesterone failed to induce secretory endometrium in a woman with 17-alpha-hydroxylase deficiency. The insertion of s.c. 17-beta-oestradiol implants dramatically improved the endometrial response and enabled the establishment of endometrial maturation. A viable pregnancy was achieved after the uterine transfer of in-vitro fertilized donated eggs.
Adrenal Hyperplasia, Congenital↗
Detection of minimal residual disease state in chronic myelogenous leukemia patients using fluorescence in situ hybridization.
Detection of minimal residual disease and relapse remain major problems in chronic myelogenous leukemia (CML) patients following bone marrow transplantation (BMT). In order to disclose the 9;22 Philadelphia translocation, we used a fluorescence in situ hybridization (FISH) technique. BCR and ABL gene fragments were used as probes for the detection of the BCR/ABL fusion product in peripheral blood and bone marrow cells from 11 CML patients in which 5 were post-BMT. The sensitivity and specificity of this approach were compared to conventional cytogenetic and polymerase chain reaction (PCR) methods. FISH demonstrated a high degree of sensitivity (1%) for the detection of the BCR/ABL translocation in these patients. A linear correlation was found between FISH detection of the BCR/ABL fusion product and routine chromosomal analysis (r = 0.995; p < 0.001). Detection of the BCR/ABL signal by FISH was observed in all patients showing a positive PCR signal. A significant reduction in BCR/ABL signal was observed post-transplant (p < 0.001). However, the BCR/ABL translocation was detected in four of five transplanted patients immediately (0.75-2.5 months) following transplant and was found in patients with a low expression of the translocation.
Adult↗
Detection of minimal residual disease after sex-mismatch bone marrow transplantation in chronic myelogenous leukemia by fluorescence in situ hybridization.
Detection of minimal residual disease is one of the major goals in bone marrow transplantation. We used a fluorescence in-situ hybridization technique to detect residual Philadelphia-chromosome positive cells in chronic myelogenous leukemia (CML) patients after sex-mismatch BMT. We analyzed the level of detection using probes for the BCR/ABL fusion product by comparison with results obtained with probes for the Y and X sex chromosomes. Detection of sex-mismatch chromosomes was significantly higher than that of the BCR/ABL translocation. In contrast, a higher specificity of residual tumor cell detection by the BCR/ABL probe was demonstrated because most of the sex-mismatch cells detected by FISH had a normal karyotype. Tumor-specific markers probes are thus superior and more accurate than sex-mismatch probes for detection of MRD in CML patients after BMT.
Adult↗
Detection of bcl rearrangements in B-CLL by fluorescence in situ hybridization.
Data concerning oncogene activation in CLL are very limited. When studied by Southern blot, rearrangements of bcl-1, bcl-2, and bcl-3 have been only infrequently reported. We evaluated the role of fluorescence in situ hybridization (FISH) in the detection of gene rearrangements in two CLL patients. We used multiple DNA probes, including those of chromosome 12, immunoglobulin heavy and light chains, and the oncogenes bcl-1, bcl-2, and bcl-3. Additionally, routine cytogenetic study was performed. In one patient, trisomy 12 and bcl-2 translocation were demonstrated by both methods, while trisomy 12 and bcl-1 translocation were seen in the second patient, who had a normal karyotype. Larger studies should evaluate the role of FISH in the detection of oncogene involvement in CLL and compare it with other molecular methods.
Aged↗
Laparoscopic Resection of a Cornual Pregnancy: A First Case Report
Laparoscopic surgery is currently the preferred diagnostic and treatment modality for ectopic pregnancy (EP). Cornual pregnancy, a rare and dangerous form of EP, is usually treated by cornual resection or hysterectomy. We report the first case to be treated by laparoscopic surgery. A 27 year old, gravida 3 para 2, was diagnosed with a nine week right cornual pregnancy. Laparoscopy revealed a 3 x 4 cm bulge into the right cornual area. Both fallopian tubes were otherwise normal. The uterus was fixed by a grasping forceps and the right tube and ovarian ligament were coagulated to reduce the blood supply. The gestational area was entered via a 1 cm incision using unipolar scissors and electrocoagulation. The pregnancy contents were suctioned; cavity margins and placental bed were coagulated until hemostasis was secured. The uterus contracted. The posterior leaf of the broad ligament was flapped over the incision site and attached by coagulation points. Postoperative course was uneventful. A hysterosalpingogram performed 4 months post surgery revealed a normal uterine cavity and blocked right tube.
Journal Article↗