Chromosome 7 long arm deletion in myeloid disorders: a narrow breakpoint region in 7q22 defined by molecular mapping

The involvement of the erythropoietin (EPO), plasminogen activator inhibitor type I (PAI1), and multi-drug resistance (MDR2) genes located in chromosomal region 7q21-22 was studied in patients with myeloid disorders and with or without a chromosome 7 abnormality. Separated blood mononuclear cells and granulocytes from 21 patients were used in restriction fragment length polymorphism (RFLP) studies with gene- specific DNA probes. A marked weakness of one of the allelic bands was observed in granulocyte-derived DNA from heterozygous patients with monosomy 7. In four patients with a partial deletion of chromosome 7 long arm (7q-), marked weakness of an allelic band was observed in granulocyte-derived DNA with PAI1 probe (four heterozygous patients) and MDR2 probe (one heterozygous patient), implying deletion of these genes. In contrast, the EPO gene was not deleted in these patients, as demonstrated by the presence of two allelic bands of equal strength in granulocyte-derived DNA (two patients) or by gene dosage estimation (two patients). Two allelic bands of equal strength were also observed in three heterozygous patients with an arbitrary probe (pKV13) located in 7cen-q21.3. Unexpected hemizygosity or hybridization bands were not observed in any patient. We conclude that PAI1 and MDR2 are located distally of EPO in 7q22, and that none of these genes is commonly rearranged in myeloid disorders. The chromosome 7 long arm deletion breakpoint is located in a relatively narrow segment between the PAI1 and EPO genes in different patients. The deletion may involve a specific site in DNA, since the genetic distance between the PAI1 and EPO genes is only 3 cM.     

Steroidogenic acute regulatory protein expression in the normal human brain and intracranial tumors

In this study we found the expression of steroidogenic acute regulatory protein (StAR) mRNA and protein in both the normal human brain and intracranial tumors, using RT-PCR and immunohistochemistry. StAR mRNA is expressed at a very low level in the white matter of the normal human brain, but in tumoral tissues StAR mRNA was specifically expressed in oligodendrogliomas and malignant glial tumors. StAR-positive cells were also detected in the normal human brains and gliomas; its frequency and density were higher in glioma tissue. These findings suggest that StAR expression might be correlated with the growth of glial tumors.     

Case Report: Intracerebral Hemorrhage After γ-Knife Surgery for Metastatic Brain Tumor

The authors report a case of a 69-year-old man with metastatic brain tumors who died of spontaneous intracerebral hemorrhage 3 days after -knife surgery. He had been suffering from lung cancer with multiple systemic metastasis. Preoperative magnetic resonance images showed two well-defined round lesions with intratumoral hemorrhage in the left frontal and right occipital lobe. There was no bleeding tendency in the hematological examination and the patient was normotensive. -Knife surgery was performed on both lesions in a single session. However, the patient died of massive intracerebral hemorrhage from the left frontal lesion 3 days after the surgery. There have been no previous reports of mortality resulting from spontaneous intracerebral hemorrhage after -knife surgery in metastatic brain tumors documented in the literature. It is likely that the two events, -knife surgery and spontaneous intracerebral hemorrhage, occurred separately and were not associated. However, it is worth noting that there is a possibility of bleeding after -knife surgery, especially in a metastatic brain tumor with preexisting intratumoral hemorrhage as in our case.     

Cord ultrasonic transection procedure for selective termination of a monochorionic twin

Placental vascular communications can present a life-threatening problem in monochorionic twins when one fetus has a lethal anomaly. Although selective feticide is the best option for salvaging the normal twin, techniques normally employed (i.e. intracardiac potassium, air embolism) are not prudent given the common circulatory system. Furthermore, in monoamniotic, monochorionic twin gestations it is important to transect the umbilical cord completely to prevent entanglement of the dead fetus around the cord of the normal twin. We present two cases of monochorionic twins in which the cords were transected with a harmonic scalpel under ultrasonic guidance via one trocar. The harmonic scalpel is an instrument which can simultaneously coagulate and cut blood vessels or tissues. The cord ultrasonic transection procedure is a novel, minimally invasive technique which offers several advantages over the methods currently used for selective feticide in discordant monochorionic twin gestations.     

A clinical and epidemiologic study morsicatio buccarum/labiorum

abstract – A study of habitual self mutilation of the buccal and/or labial mucosa by biting was conducted on 8,589 persons attending the Royal Dental College, Copenhagen. Forty-two cases were found. The youngest patient was 5 years old and the oldest was 47. The condition occurred most frequently (1.77%) among persons aged 15–19 years. There was no difference in prevalence between males and females. Combined mutilation of cheek(s) and lip(s) was more frequent (62%) than isolated mutilation of the cheek(s) (24%) or isolated mutilation of the lip(s) (14%). Bilateral biting of the cheeks was more frequent than unilateral biting, and biting of the lower lip was more frequent than biting of the upper lip. Ninety-three per cent of the patients were aware of their habit, and most of them stated that they had been biting for years. Twenty patients were re-examined; in all but one patients the biting persisted but in 7 patients the location of the lesions had changed. In several cases a link could be traced to personal problems and mental stress. It was further noticed that many patients were students and white-collar workers, suggesting that "intellectual" work may predispose for the habit.     

The detection of p53 gene mutation using a microdissection technique in primary intracranial germ cell tumors

Using a microdissection technique, the contribution of the p53 mutation to tumorigenesis and prognosis in each histological subtype of the intracranial germ cell tumors (GCTs) was evaluated. Nineteen patients had primary intracranial GCTs, including 4 germinomas (GEs), 4 teratomas (TEs), 1 mixed tumor of GE and TE, and 10 mixed GCTs containing non-germinomatous malignant germ cell tumors (NG-MGCTs). After microdissection of specific subtypes, genomic DNA was screened for mutations in exons 5-8 of the p53 gene, using the dideoxyfingerprinting (ddF) followed by direct DNA sequencing. The direct sequencing revealed a total of six mutations in PCR products derived from the five cases (26%) which showed mobility shifts in ddF. Among the six mutations detected, four were missense mutations and two were silent. Missense mutations of the p53 gene tended to occur more frequently in the NG-MGCT component than in the GE or TE components (3/15 vs. 1/12 vs. 0/13). The incidence of missense mutations was not different between the survivors (3/13) and the deceased (1/6). This study suggests the possible role of the p53 gene in the tumori-genesis of NG-MGCT. However, p53 gene mutation did not correlate with the prognosis of NG-MGCT.     

Determination of chromosome aberrations in workers in a petroleum refining factory

Human exposure to benzene is derived occupationally from the petrochemical and petroleum refining industries. This study was performed to determine whether the frequencies of chromosome aberrations in workers exposed to low levels of benzene in a petroleum refining factory were elevated compared to an unexposed control group. The study population was comprised of 178 exposed workers and 36 unexposed workers. The frequencies of chromatid deletions and total chromosome aberrations in workers exposed to benzene were significantly higher compared to the unexposed control group. The frequency of total chromosome aberration was 4.20 per 500 metaphase cells in the exposed workers, whereas the frequency was 2.24 per 500 metaphase cells in the unexposed control group. The frequencies of total chromosome aberrations were significantly associated with benzene concentration after adjusting for confounding variables such as age, smoking status, and alcohol intake. The frequencies of chromosome aberrations were significantly increased in workers with low white blood cell counts (below 4000 cells/mm3) compared to those with high white blood cell counts (above 4000 cells/mm3). A reduced white blood cell count (below 4000/mm3) is suggestive of chronic exposure to benzene. In conclusion chronic benzene exposure and preclinical signs, such as reduced white blood cell counts, may be monitored by chromosome aberrations analysis.