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Biomedical subjects

S Hall

Publications and source records attributed to S Hall.

At least 37 records · Page 2Linked to original sources

Endoluminal gastroplication in children with significant gastro-oesophageal reflux disease.

AIMS: To describe paediatric experience, and to assess complications and therapeutic effectiveness of the use of endoluminal gastroplication in children with gastro-oesophageal reflux disease (GORD) refractory to, or dependent on, proton pump inhibitors. METHODS: Seventeen (five male) consecutive children/adolescents (median (range) age 12.4 (6.1-15.9) years, median (range) weight 46.0 (16.5-87.5) kg) with GORD either dependent for more than 12 months on proton pump inhibitors or non-responsive to medical treatment underwent endoscopic gastroplication using a flexible endoscopic sewing device (EndoCinch). Three plications were placed in gastric tissue below the lower oesophageal sphincter. Drug dose requirement, pH measurements, daily symptom severity and frequency, and validated reflux (QOLRAD) and general gastrointestinal (GSRS) quality of life scores were compared before and after endoscopic gastroplication. RESULTS: All patients showed post-treatment improvement in symptom severity, frequency, and quality of life scores (p<0.0001). Three patients with recurrent symptomatic GORD had a repeat procedure within six weeks and did well subsequently. At up to 33 months of follow up (median 23), 14/17 patients remained off all antireflux medications, and 14/17 had maintained their symptomatic improvement. All pH parameters improved and had returned to normal values in 14/16 patients post-treatment and in 6/9 after one year of follow-up: in particular the reflux index had decreased from a median of 16.6% (0.9-67%) to 2.5% (0.7-15.7%) (p<0.0001) six weeks and 4.3% (2.2-20.6) (p<0.02) 12 months post-procedure. The only complication observed was gastric bleeding in one patient due to previously undiagnosed coagulopathy, which spontaneously resolved. CONCLUSIONS: Endoluminal gastroplication is an effective and safe procedure in children/adolescents with significant GORD refractory to, or dependent on, medical anti-GORD therapy.

Adolescent↗

Two year survival after malignant cerebral glioma: patient and relative reports of handicap, psychiatric symptoms and rehabilitation.

PURPOSE: To describe patient outcomes and contact with rehabilitation services two years after the diagnosis of malignant cerebral glioma. METHODS: A cross-sectional interview study of patients treated two years previously between 1990-1992 at six London hospitals. Twenty-two of 181 treated patients were found alive (12%). Fifteen were well enough to approach and 12 male patients (aged 28-60 years) and ten relatives (9 female, 1 male) could be seen by 1994. Semi-structured home interviews carried out separately with patients and relatives assessed return to previous work or activity, patient and relative reports of handicap, psychiatric symptoms, estimated percentage drop in verbal and non-verbal performance and contact with rehabilitation services. RESULTS: Using accounts of return to work or normal activity two years after treatment, five patients were classed as broadly 'active' and seven as 'inactive'. The 'active' group appeared to have few physical or cognitive problems or were able to adapt their work around these. Disagreement between patients and relatives about handicap, patient and relative psychiatric symptoms and severe neuropsychological deficit appeared to cluster in the 'inactive group'. No patient had been formally referred for rehabilitation. CONCLUSIONS: Patient outcome, in terms of managing work and everyday activities, can be very good for some two-year survivors. For others, patient and relative accounts and neuropsychological testing may disclose a range of problems. Such inquiry might suggest referral for rehabilitation or other support.

Activities of Daily Living↗

Oculomotor impairment during chronic partial sleep deprivation.

OBJECTIVE: The effects of chronic partial sleep (sleep deprivation) and extended sleep (sleep augmentation) followed by recovery sleep on oculomotor function were evaluated in normal subjects to explore the usefulness of oculomotor assessment for alertness monitoring in fitness-for-duty testing. METHODS: Sixty-six commercial drivers (24-62 years, 50m/16f) participated in a 15 day study composed of 3 training days with 8h time in bed per night, 7 experimental days with subjects randomly assigned to either 3, 5, 7, or 9h time in bed, and 3 recovery nights with 8h time in bed. Data from 57 subjects were used. Saccadic velocity (SV), initial pupil diameter (IPD), latency to pupil constriction (CL), and amplitude of pupil constriction (CA) were assessed and correlated with the sleep latency test (SLT), the Stanford sleepiness scale (SSS), and simulated driving performance. RESULTS: Regression analyses showed that SV slowed significantly in the 3 and 5h groups, IPD decreased significantly in the 9h group, and CL increased significantly in the 3h group. SLT and SSS significantly correlated with SV, IPD, CL, and driving accidents for the 3h group, and with CL for the 5h group. Analyses also showed a significant negative correlation between decreasing SV and increasing driving accidents in the 3h group and a significant negative correlation between IPD and driving accidents for the 7h group. CONCLUSIONS: The results demonstrate a sensitivity primarily of SV to sleepiness, and a correlation of SV and IPD to impaired simulated driving performance, providing evidence for the potential utility of oculomotor indicators in the detection of excessive sleepiness and deterioration of complex motor performance with chronic partial sleep restriction. SIGNIFICANCE: This paper shows a relationship between sleep deprivation and oculomotor measures, and suggests a potential utility for oculometrics in assessing operational performance readiness under sleep restricted conditions.

Accidents, Traffic↗

Deliberate self-harm in Oxford, 1990-2000: a time of change in patient characteristics.

BACKGROUND: Trends in deliberate self-harm (DSH) are important because they have implications for hospital services, may indicate levels of psychopathology in the community and future trends in suicide, and can assist in identification of means of suicide prevention. METHOD: We have investigated trends in DSH and characteristics of DSH patients between 1990 and 2000 based on data collected through the Oxford Monitoring System for Attempted Suicide. RESULTS: During the 11-year study period 8590 individuals presented following 13858 DSH episodes. The annual numbers of persons and episodes increased overall by 36.3% and 63.1% respectively. Rates (Oxford City) declined, however, in the final 3 years. There were gender- and age-specific changes, with a rise in DSH rates in males aged > or = 55 years and in females overall and those aged 15-24 years and 35-54 years. Repetition of DSH increased markedly during the study period. Antidepressant overdoses, especially of SSRIs, increased substantially. Paracetamol overdoses declined towards the end of the study period. Alcohol abuse, use of alcohol in association with DSH, and violence increased, especially in females, and the proportion of patients in current psychiatric care and misusing drugs also rose. CONCLUSIONS: While overall rates of DSH did not increase markedly between 1990 and 2000, substantial changes in the characteristics of the DSH population and a rise in repetition suggest that the challenges facing clinical services in the management of DSH patients have grown.

Adolescent↗

Risk markers associated with challenging behaviours in people with intellectual disabilities: a meta-analytic study.

A meta-analysis of prevalence and cohort studies conducted over the last 30 years was carried out to identify risk markers for challenging behaviour shown by individuals with intellectual disabilities (IDs). A total of 86 potential studies was identified from the review, with 22 (25.6%) containing sufficient data to enable a statistical analysis to be conducted. Results indicated that males were significantly more likely to show aggression than females, and that individuals with a severe/profound degree of ID were significantly more likely to show self-injury and stereotypy than individuals with a mild/moderate degree of ID. Individuals with a diagnosis of autism were significantly more likely to show self-injury, aggression and disruption to the environment whilst individuals with deficits in receptive and expressive communication were significantly more likely to show self-injury. In most cases, tests for heterogeneity were statistically significant, as expected. The meta-analysis highlighted the paucity of methodologically robust studies of risk markers for challenging behaviours and the lack of data on incidence, prevalence and chronicity of challenging behaviour in this population.

Adolescent↗

Acupuncture for lateral elbow pain.

BACKGROUND: This review is one in a series of reviews of interventions for lateral elbow pain. Lateral elbow pain, or tennis elbow, is a common condition causing pain in the elbow and forearm and lack of strength and function of the elbow and wrist. Acupuncture has long been used to treat lateral elbow pain in China and in Western countries practitioners and consumers are increasingly exploring acupuncture as a first line treatment for musculoskeletal disorders. No previous systematic review of the available evidence has been conducted to determine whether acupuncture is efficacious in the treatment lateral elbow pain. OBJECTIVES: To determine the effectiveness of acupuncture in the treatment of adults with lateral elbow pain with respect to pain reduction, improvement in function, grip strength and adverse effects. SEARCH STRATEGY: We searched MEDLINE, CINAHL, EMBASE and SCISEARCH and the Cochrane Clinical Trials Register and the Musculoskeletal Review Group's specialist trial database from 1966 to June 2001. Identified keywords and authors were searched in an effort to retrieve as many trials as possible. SELECTION CRITERIA: Two independent reviewers assessed all identified trials against pre-determined inclusion criteria. Randomised and pseudo randomised trials in all languages were included in the review provided they were testing acupuncture compared to placebo or another intervention in adults with lateral elbow pain (tennis elbow). Outcomes of interest were pain, function, disability, quality of life, strength, participant satisfaction with treatment and adverse effect. DATA COLLECTION AND ANALYSIS: For continuous variables means and standard deviations were extracted or imputed to allow the analysis of weighted mean difference, while for binary data numbers of events and total population were analysed and interpreted as relative risks. Trial results were combined only in the absence of clinical and statistical heterogeneity. MAIN RESULTS: Four small randomized controlled trials were included but due to flaws in study designs (particularly small populations, uncertain allocation concealment and substantial loss to follow up) and clinical differences between trials, data from trials could not be combined in a meta-analysis. One randomised controlled trial found that needle acupuncture results in relief of pain for significantly longer than placebo (WMD = 18.8 hours, 95%CI 10.1 to 27.5) and is more likely to result in a 50% or greater reduction in pain after 1 treatment (RR 0.33, 95%CI 0.16 to 0.69) (Molsberger 1994). A second randomized controlled trial demonstrated needle acupuncture to be more likely to result in overall participant reported improvement than placebo in the short term (RR = 0.09 95% CI 0.01 to 0.64) (Haker 1990a). No significant differences were found in the longer term (after 3 or 12 months). A randomized controlled trial of laser acupuncture versus placebo demonstrated no differences between laser acupuncture and placebo with respect to overall benefit (Haker 1990b). A fourth included trial published in Chinese demonstrated no difference between Vitamin B12 injection plus acupuncture, and Vitamin B12 injection alone (Wang 1997). REVIEWER'S CONCLUSIONS: There is insufficient evidence to either support or refute the use of acupuncture (either needle or laser) in the treatment of lateral elbow pain. This review has demonstrated needle acupuncture to be of short term benefit with respect to pain, but this finding is based on the results of 2 small trials, the results of which were not able to be combined in meta-analysis. No benefit lasting more than 24 hours following treatment has been demonstrated. No trial assessed or commented on potential adverse effect. Further trials, utilising appropriate methods and adequate sample sizes, are needed before conclusions can be drawn regarding the effect of acupuncture on tennis elbow.

Acupuncture Therapy↗

Non-steroidal anti-inflammatory drugs (NSAIDs) for treating lateral elbow pain in adults.

BACKGROUND: Lateral elbow pain, or tennis elbow, is a common condition causing pain in the elbow and forearm and lack of strength and function of the elbow and wrist. It is often treated with non-steroidal anti-inflammatory drugs (NSAIDs), either orally or by topical application. OBJECTIVES: To assess effectiveness of NSAIDs (oral or topical) in the treatment of adults with lateral elbow pain with respect to symptom (pain) reduction, improvement in function, grip strength and adverse effects. SEARCH STRATEGY: We searched the Musculoskeletal Review Group's trials register database, the Cochrane Clinical Trials Register (Cochrane Library issue 2, 2001), MEDLINE, CINAHL, EMBASE and SCISEARCH up to June 2001. SELECTION CRITERIA: Randomised and pseudo randomised trials in all languages of NSAIDs (oral or topical) compared to placebo or another intervention, or comparing two NSAIDs (oral or topical) to each other, in adults with lateral elbow pain (tennis elbow). Outcomes of interest were pain, function, disability and quality of life, strength, participant satisfaction with treatment and adverse effect. DATA COLLECTION AND ANALYSIS: Two reviewers independently applied selection criteria and assessed study quality. MAIN RESULTS: Fourteen trials were included in the review. Few trials used intention to treat analysis, and the sample size of most was small. The median follow up was 2 weeks (range 1-12 weeks). There is evidence that topical NSAIDs are significantly more effective than placebo with respect to pain [weighted main difference= -1.88, (95% confidence intervals -2.54 to -1.21)] and participant satisfaction [relative risk 0.39, (95% confidence intervals 0.23 to 0.66)] in the short term, and this finding is robust against the possible bias introduced by the inclusion of unblinded trials and publication bias. The adverse effects reported were minor. Only two included trials assessed the effect of oral NSAID and these were not able to be pooled. There is some evidence for short term benefit with respect to pain and function from oral NSAIDs, but this benefit was not sustained. Significantly more gastrointestinal adverse effects were reported by those taking oral NSAIDs [relative risk = 3.17, (95% confidence intervals 1.35 to 7.41)]. In the short term there may be some advantage in steroid injection over oral NSAID [patient's perception of benefit relative risk = 3.06, (95% confidence intervals 1.55 to 6.06)], but this was not sustained in the longer term. REVIEWER'S CONCLUSIONS: There is some support for the use of topical NSAIDs to relieve lateral elbow pain at least in the short term. There remains insufficient evidence to recommend or discourage the use of oral NSAID, although it appears injection may be more effective than oral NSAID in the short term. A direct comparison between topical and oral NSAID has not been made and so no conclusions can be drawn regarding the best method of administration.

Administration, Oral↗

How reliably do rheumatologists measure shoulder movement?

OBJECTIVE: To assess the intrarater and interrater reliability among rheumatologists of a standardised protocol for measurement of shoulder movements using a gravity inclinometer. METHODS: After instruction, six rheumatologists independently assessed eight movements of the shoulder, including total and glenohumeral flexion, total and glenohumeral abduction, external rotation in neutral and in abduction, internal rotation in abduction and hand behind back, in random order in six patients with shoulder pain and stiffness according to a 6x6 Latin square design using a standardised protocol. These assessments were then repeated. Analysis of variance was used to partition total variability into components of variance in order to calculate intraclass correlation coefficients (ICCs). RESULTS: The intrarater and interrater reliability of different shoulder movements varied widely. The movement of hand behind back and total shoulder flexion yielded the highest ICC scores for both intrarater reliability (0.91 and 0.83, respectively) and interrater reliability (0.80 and 0.72, respectively). Low ICC scores were found for the movements of glenohumeral abduction, external rotation in abduction, and internal rotation in abduction (intrarater ICCs 0.35, 0.43, and 0.32, respectively), and external rotation in neutral, external rotation in abduction, and internal rotation in abduction (interrater ICCs 0.29, 0.11, and 0.06, respectively). CONCLUSIONS: The measurement of shoulder movements using a standardised protocol by rheumatologists produced variable intrarater and interrater reliability. Reasonable reliability was obtained only for the movement of hand behind back and total shoulder flexion.

Aged↗

Diet, breakfast, and academic performance in children.

OBJECTIVE: To determine whether nutrient intake and academic and psychosocial functioning improve after the start of a universal-free school breakfast program (USBP). METHODS: Information was gathered from 97 inner city students prior to the start of a USBP and again after the program had been in place for 6 months. Students who had total energy intakes of <50% of the recommended daily allowance (RDA) and/or 2 or more micronutrients of <50% of RDA were considered to be at nutritional risk. RESULTS: Prior to the USBP, 33% of all study children were classified as being at nutritional risk. Children who were at nutritional risk had significantly poorer attendance, punctuality, and grades at school, more behavior problems, and were less likely to eat breakfast at school than children who were not at nutritional risk. Six months after the start of the free school breakfast programs, students who decreased their nutritional risk showed significantly greater: improvements in attendance and school breakfast participation, decreases in hunger, and improvements in math grades and behavior than children who did not decrease their nutritional risk. CONCLUSION: Participation in a school breakfast program enhanced daily nutrient intake and improvements in nutrient intake were associated with significant improvements in student academic performance and psychosocial functioning and decreases in hunger.

Absenteeism↗

Evaluation of innovative surveillance for drug-resistant Streptococcus pneumoniae.

To monitor disease incidence and antibiotic resistance, effective, practical surveillance strategies are needed at the local level for drug-resistant Streptococcus pneumoniae (DRSP). Knox County, Tennessee, participates in three forms of DRSP surveillance: an active system sponsored by the Centers for Disease Control and Prevention (CDC; Atlanta, Georgia); a novel county-sponsored system; and conventional state-mandated reporting. Ascertainment of invasive S. pneumoniae infection cases by each system in 1998 was evaluated, and completeness of reporting, antibiotic resistance patterns, costs, and other attributes were compared. The county-sponsored system collects patient identifiers and drug susceptibility data directly from hospital laboratories, whereas the CDC-sponsored system performs medical chart abstractions and reference laboratory susceptibility testing. Similar numbers of invasive S. pneumoniae cases were detected by the county-sponsored (n = 127) and CDC-sponsored (n = 123) systems; these systems held >75% of all cases in common, and each system achieved >85% sensitivity. Conventional reporting contained 88% and 76% of the DRSP cases identified by the county- and CDC-sponsored systems, respectively, but did not capture infections produced by susceptible isolates. Both the county- and CDC-sponsored systems indicated that large proportions of isolates were resistant to penicillin and extended-spectrum cephalosporins. The county-sponsored DRSP surveillance system was inexpensive, simple to execute, and relevant to local needs.

Community-Acquired Infections↗

Incidence of malignant disease in biopsy-proven inflammatory myopathy. A population-based cohort study.

BACKGROUND: The validity and magnitude of an association between myositis and malignant disease continue to be debated. Such issues as the legitimacy of a myositis diagnosis and distinction among myositis subgroups in previous population-based studies remain unresolved. OBJECTIVE: To determine the risk for malignant disease in patients with biopsy-proven inflammatory myopathies. DESIGN: Population-based, retrospective cohort study. SETTING: Victoria, Australia. PATIENTS: 537 patients in whom a biopsy-positive idiopathic inflammatory myopathy was first diagnosed from 1981 through 1995. MEASUREMENTS: Standardized incidence ratios were calculated to compare the incidence of malignant disease in patients with inflammatory myopathy and the general population. RESULTS: A total of 116 cases of malignant disease were found in 104 patients. Seventy-four cases were identified concurrently with (within 7 days) or after diagnosis of myositis. The highest risk for malignant disease was associated with dermatomyositis (standardized incidence ratio, 6.2 [95% CI, 3.9 to 10.0]). The risk was also increased in polymyositis (standardized incidence ratio, 2.0 [CI, 1.4 to 2.7]), although the relative risk for malignant disease in dermatomyositis compared with polymyositis was 2.4 (CI, 1.3 to 4.2). An increased risk for malignant disease was also found in inclusion-body myositis (standardized incidence ratio, 2.4 [CI, 1.2 to 4.9]). The excess risk for malignant disease diminished with time (standardized incidence ratio, 4.4 [CI, 2.7 to 7.1] in the first year; 3.4 [CI, 2.3 to 5.1] between 1 and 3 years; 2.2 [CI, 1.3 to 3.9] between 3 and 5 years; and 1.6 [CI, 1.0 to 2.6] beyond 5 years [ P for trend, 0.002]). CONCLUSION: The risk for malignant disease is increased in biopsy-proven dermatomyositis and polymyositis and also appears to be increased in inclusion-body myositis.

Adult↗

Readability and content of supplementary written drug information for patients used by Australian rheumatologists.

OBJECTIVE: To determine the readability and content of supplementary written drug information currently being given to patients by rheumatologists in Australia. DESIGN AND PARTICIPANTS: Blinded standardised review by two independent reviewers of supplementary written drug information routinely provided to patients by the 195 fully registered members of the Australian Rheumatology Association (ARA). MAIN OUTCOME MEASURES: FOG and SMOG readability scores to estimate readability; critical appraisal of content according to predetermined criteria. RESULTS: 84 rheumatologists responded (43%), 45 of whom reported providing copies of written drug information to patients. Overall, 91 different documents were reviewed. Drugs most commonly considered were methotrexate (17), gold (16), sulfasalazine (10), penicillamine (10) and prednisolone (8). Level of agreement between reviewers for FOG and SMOG scores was fair to good (intraclass correlation coefficient, 0.61 and 0.51, respectively). Mean (95% CI) FOG and SMOG scores were 12.6 (12.2-12.9) and 11 (10.7-11.2), respectively (implying that half of those in Year 12 [or aged 17 years] and Year 11 [or aged 16 years] according to the FOG and SMOG mean scores, respectively, will comprehend half of the text or more). For the same medication, there was a wide variation in the information provided, including which side effects were discussed. While 98% included some information about side effects, fewer considered dose (74%), drug interactions if applicable (70%), purpose of drug (67%), how and when to take the drug (62%), expected time to improvement (54%), what to do in the event of side effects (44%), the expected duration of therapy (18%) and what to do if a dose was missed (5%). CONCLUSIONS: The reading level required to understand supplementary written drug information used by Australian rheumatologists is much higher than the average reading ability of the Australian population (estimated at Year 8 level). The content of this information varies widely and often omits important information.

Antirheumatic Agents↗

Efficient retrovirus-mediated PIG-A gene transfer and stable restoration of GPI-anchored protein expression in cells with the PNH phenotype.

Paroxysmal nocturnal hemoglobinuria (PNH) is a clonal hematopoietic stem cell disorder characterized by complement-mediated hemolysis due to deficiencies of glycosylphosphatidylinositol-anchored proteins (GPI-APs) in subpopulations of blood cells. Acquired mutations in the X-linked phosphatidylinositol glycan-class A (PIG-A) gene appear to be the characteristic and pathogenetic cause of PNH. To develop a gene therapy approach for PNH, a retroviral vector construct, termed MPIN, was made containing the PIG-A complementary DNA along with an internal ribosome entry site and the nerve growth factor receptor (NGFR) as a selectable marker. MPIN transduction led to efficient and stable PIG-A and NGFR gene expression in a PIG-A-deficient B-cell line (JY5), a PIG-A-deficient K562 cell line, an Epstein-Barr virus-transformed B-cell line (TK-14(-)) established from a patient with PNH, as well as peripheral blood (PB) mononuclear cells from a patient with PNH. PIG-A expression in these cell lines stably restored GPI-AP expression. MPIN was transduced into bone marrow mononuclear cells from a patient with PNH, and myeloid/erythroid colonies and erythroid cells were derived. These transduced erythroid cells restored surface expression of GPI-APs and resistance to hemolysis. These results indicate that MPIN is capable of efficient and stable functional restoration of GPI-APs in a variety of PIG-A-deficient hematopoietic cell types. Furthermore, MPIN also transduced into PB CD34(+) cells from a normal donor, indicating that MPIN can transduce primitive human progenitors. These findings set the stage for determining whether MPIN can restore PIG-A function in multipotential stem cells, thereby providing a potential new therapeutic option in PNH.

3T3 Cells↗

What parents are told after prenatal diagnosis of a sex chromosome abnormality: interview and questionnaire study.

OBJECTIVE: To investigate how the prenatal diagnosis of a sex chromosome anomaly is first communicated to parents. DESIGN: Health professionals were interviewed by telephone and the conversation was taped; parents were sent questionnaires at 1 month after diagnosis and those who responded were sent another at 6 months. PARTICIPANTS: 29 health professionals who had recently informed parents that a sex chromosome anomaly had been identified in an apparently anatomically normal, viable fetus. 23 mothers and partners who had been informed of such a diagnosis. MAIN OUTCOME MEASURES: Health professionals' knowledge about sex chromosome anomalies and parents' responses to information provided by health professionals. RESULTS: Analysis of the telephone interviews identified great variation in what different healthcare professionals know, think, and say about the same sex chromosome anomaly. The small numbers and the low response rate for the questionnaire (39% for women and 30% for men) meant that statistical analysis was not appropriate. CONCLUSIONS: It is essential for obstetric units to have an established protocol for giving results and for all staff who communicate results to parents to have accurate, up to date information about the condition identified.

Adult↗

A unique AML1 (CBF2A) rearrangement, t(1;21)(p32;q22), observed in a patient with acute myelomonocytic leukemia.

The AML1 (CBFA2) gene is the most frequent target of chromosomal rearrangements observed in human acute leukemia. These rearrangements include the commonly reported t(8;21)(q22;q22) or AML1/ETO fusion in AML-M2, the t(3;21)(q26;q22) or AML1 fusion with one of three genes, MDS1, EAP or EVI1, in therapy-related AML and MDS, as well as in blast crisis in CML and the t(12;21)(p13;q22) or TEL/AML1 fusion in B-cell ALL. In addition to the t(3;21), other AML1 translocations have also been reported in therapy-related MDS and AML, particularly after treatment with topoisomerase II inhibitors. AML1 gene rearrangements have also been observed less frequently with numerous other chromosomal partners. Here, we describe a patient with AML-M4 and a previously unreported rearrangement involving the AML1 locus and an unknown locus on the short arm of chromosome 1 at 1p32.

Adult↗