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Penicillium glabrum is a filamentous fungus frequently involved in food contamination. Numerous environmental factors (temperature, humidity, atmospheric composition, etc.) or food characteristics (water activity, pH, preservatives, etc.) could represent potential sources of stress for micro-organisms. These factors can directly affect the physiology of these spoilage microorganisms: growth, conidiation, synthesis of secondary metabolites, etc. This study investigated the transcriptional response to temperature in P. glabrum, since this factor is one of the most important for fungal growth. Gene expression was first analysed by using suppression subtractive hybridization to generate two libraries containing 445 different up- and downregulated expressed sequence tags (ESTs). Expression of these ESTs was then assessed for different thermal stress conditions, with cDNA microarrays, resulting in the identification of 35 and 49 significantly up-and downregulated ESTs, respectively. These ESTs encode heat-shock proteins, ribosomal proteins, superoxide dismutase, trehalose-6-phosphate synthase and a large variety of identified or unknown proteins. Some of these may be molecular markers for thermal stress response in P. glabrum. To our knowledge, this work represents the first study of the transcriptional response of a food spoilage filamentous fungus under thermal stress conditions.

Osteogenesis imperfecta (OI), or brittle bone disease, is a disorder characterized by bone fragility and increased fracture incidence. All forms of OI also feature short stature, implying an effect on endochondral ossification. Using the Aga2+/- mouse, which has a mutation in type I collagen, we show an affected growth plate primarily due to a shortened proliferative zone. We used single-cell RNA-Seq analysis of tibial and femoral growth plate tissues to understand transcriptional consequences on growth plate cell types. We show that perichondrial cells, which express abundant type I procollagen, and growth plate chondrocytes, which were found to express low amounts of type I procollagen, had ER stress and dysregulation of the same unfolded protein response pathway as previously demonstrated in osteoblasts. Aga2+/- proliferating chondrocytes showed increased FGF and MAPK signaling, findings consistent with accelerated differentiation. There was also increased Sox9 expression throughout the growth plate, which is expected to accelerate early chondrocyte differentiation but reduce late hypertrophic differentiation. These data reveal that mutant type I collagen expression in OI has an impact on the cartilage growth plate. These effects on endochondral ossification indicate that OI is a biologically complex phenotype going beyond its known impacts on bone to negatively affect linear growth.

Collaboration between academic researchers and community members, clinicians, and organizations is valued at all levels of the program development process in community-engaged health research (CEnR). This descriptive study examined a convenience sample of 30 projects addressing training in CEnR methods and strategies within the Clinical and Translational Science Awards (CTSA) consortium. Projects were selected from among posters presented at an annual community engagement conference over a 3-year period. Study goals were to learn more about how community participation in the design process affected selection of training topics, how distinct community settings influenced the selection of training formats, and the role of evaluation in preparing training participants to pursue future health research programming. Results indicated (1) a modest increase in training topics that reflected community health priorities as a result of community (as well as academic) participation at the program design stage, (2) a wide range of community-based settings for CEnR training programs, and (3) the majority of respondents conducted evaluations, which led in turn to revisions in the curricula for future training sessions. Practice and research implications are that the collaboration displayed by academic community teams around CEnR training should be traced to see if this participatory practice transfers to the design of health promotion programs. Second, collaborative training design tenets, community formats and settings, and evaluation strategies should be disseminated throughout the CTSA network and beyond. Third, common evaluative metrics and indicators of success for CEnR training programs should be identified across CTSA institutions.

Purpose: Although the literature establishes a link between health consciousness (HC) and prevention behavior, less explored are the individual, social, and health characteristics that are associated with increased HC. Similarly, underexamined is the influence of race and ethnicity on the relationship of these characteristics to higher levels of HC., Design: This cross-sectional study aims to identify and assess the relative importance of factors associated with higher levels of HC, highlighting the role of race and ethnicity., Participants: Participants came from a national research panel survey (N = 1007)., Measures: Participants completed a 4-item scale capturing key concepts of HC as well as questionnaires capturing demographic profiles, social support, social networking activities, and health status., Analysis: A stepwise multiple regression was used to identify significant predictors of HC., Results: Female and more educated participants report higher levels of HC. African American and Hispanic participants report higher levels of HC compared to white participants. Findings indicate social support, social network participation, education, cancer survivorship, and health status were positively associated with higher HC for the collective sample. However, results revealed variations in factors associated with higher HC when stratified by race/ethnicity., Conclusion: Findings suggest that interventions aiming to motivate cancer prevention behaviors within at-risk communities may find more success by incorporating factors that are aligned with increased HC among culturally diverse populations.

Background: The Clinical and Translational Science Award (CTSA) institutions are increasing development of training programs in community-engaged research (CEnR) to support translational science., Methods: This study sampled posters at CTSA national meetings to identify CEnR training approaches, topics, and outcomes., Results: Qualitative analysis of 30 posters revealed training topics and outcomes focused primarily on CEnR capacity building, overcoming barriers, systems change, and sustainability., Conclusion: Further research should focus on development and results of CTSA CEnR training program metrics., (© The Association for Clinical and Translational Science 2018.)

Defects in the biosynthesis and/or function of primary cilia cause a spectrum of disorders collectively referred to as ciliopathies. A subset of these disorders is distinguished by profound abnormalities of the skeleton that include a long narrow chest with markedly short ribs, extremely short limbs, and polydactyly. These include the perinatal lethal short-rib polydactyly syndromes (SRPS) and the less severe asphyxiating thoracic dystrophy (ATD), Ellis-van Creveld (EVC) syndrome, and cranioectodermal dysplasia (CED) phenotypes. To identify new genes and define the spectrum of mutations in the skeletal ciliopathies, we analyzed 152 unrelated families with SRPS, ATD, and EVC. Causal variants were discovered in 14 genes in 120 families, including one newly associated gene and two genes previously associated with other ciliopathies. These three genes encode components of three different ciliary complexes; FUZ, which encodes a planar cell polarity complex molecule; TRAF3IP1, which encodes an anterograde ciliary transport protein; and LBR, which encodes a nuclear membrane protein with sterol reductase activity. The results established the molecular basis of SRPS type IV, in which mutations were identified in four different ciliary genes. The data provide systematic insight regarding the genotypes associated with a large cohort of these genetically heterogeneous phenotypes and identified new ciliary components required for normal skeletal development., (© 2017 Wiley Periodicals, Inc.)

Objectives: Patients' perceptions of how they are treated in their interactions with the healthcare system represent important and valid measures of healthcare quality that may influence health utilization, outcomes, and costs. Perceived discrimination or the sense of being treated unfairly is an important patient perception known to adversely affect health, but the relation of such perceptions to health-seeking behaviors related to low-acuity emergency department (ED) use is unclear. The objectives of this exploratory study were to describe the prevalence and nature of perceived discrimination or perceived unfair treatment (PD/PUT), and to examine the association of PD/PUT with healthcare utilization among adult safety-net patients in the southwestern United States who sought ED treatment for low-acuity conditions., Methods: Cross-sectional survey data were collected via self-administered questionnaires completed by adult safety-net patients who were uninsured or covered by Medicaid and who sought ED treatment for low-acuity conditions (N = 310). We used descriptive statistics to describe PD/PUT in the healthcare experiences reported by study participants. We used logistic regression to examine the association between PD/PUT and participants' likelihood to seek health care from ED and non-ED settings., Results: Thirty-eight percent of study participants reported PD/PUT, most frequently attributed to insurance status (being uninsured or covered by Medicaid). Participants who reported PD/PUT in their ability to access medical care or to obtain health insurance were significantly more likely to be frequent (vs nonfrequent) ED users (odds ratio [OR] 3.80, P < 0.001) and to use multiple (vs 1) EDs (OR 3.79, P < 0.001) during a 12-month period. Participants who reported PD/PUT while receiving medical care were more likely to have received care in ED and non-ED settings, as compared with EDs only (OR 2.02, P = 0.012)., Conclusions: A substantial proportion of this sample of adult safety-net patients in the Southwest reported experiencing PD/PUT in their healthcare interactions and most frequently attributed such perceptions to their insurance status. Although this study does not establish a causal link between PD/PUT and utilization of care in specific settings, it highlights the need to better understand the underlying causes of PD/PUT across multiple delivery settings and to clarify the extent to which such experiences may influence patients' healthcare-seeking behaviors. Federal and state policies that aim to maintain or expand health insurance coverage for safety-net populations should consider the role of health insurance status in driving perceptions of being discriminated against or treated unfairly.

Multiple Epiphyseal Dysplasia (MED) is a relatively mild skeletal dysplasia characterized by mild short stature, joint pain, and early-onset osteoarthropathy. Dominantly inherited mutations in COMP, MATN3, COL9A1, COL9A2, and COL9A3, and recessively inherited mutations in SLC26A2, account for the molecular basis of disease in about 80-85% of the cases. In two families with recurrent MED of an unknown molecular basis, we used exome sequencing and candidate gene analysis to identify homozygosity for recessively inherited missense mutations in CANT1, which encodes calcium-activated nucleotidase 1. The MED phenotype is thus allelic to the more severe Desbuquois dysplasia phenotype and the results identify CANT1 as a second locus for recessively inherited MED., (© 2017 Wiley Periodicals, Inc.)

Shohat-type spondyloepimetaphyseal dysplasia (SEMD) is a skeletal dysplasia that affects cartilage development. Similar skeletal disorders, such as spondyloepiphyseal dysplasias, are linked to mutations in type II collagen (COL2A1), but the causative gene in SEMD is not known. Here, we have performed whole-exome sequencing to identify a recurrent homozygous c.408+1G>A donor splice site loss-of-function mutation in DDRGK domain containing 1 (DDRGK1) in 4 families affected by SEMD. In zebrafish, ddrgk1 deficiency disrupted craniofacial cartilage development and led to decreased levels of the chondrogenic master transcription factor sox9 and its downstream target, col2a1. Overexpression of sox9 rescued the zebrafish chondrogenic and craniofacial phenotype generated by ddrgk1 knockdown, thus identifying DDRGK1 as a regulator of SOX9. Consistent with these results, Ddrgk1-/- mice displayed delayed limb bud chondrogenic condensation, decreased SOX9 protein expression and Col2a1 transcript levels, and increased apoptosis. Furthermore, we determined that DDRGK1 can directly bind to SOX9 to inhibit its ubiquitination and proteasomal degradation. Taken together, these data indicate that loss of DDRGK1 decreases SOX9 expression and causes a human skeletal dysplasia, identifying a mechanism that regulates chondrogenesis via modulation of SOX9 ubiquitination.

Health literacy (HL) is recognized as an important health construct that is correlated with various health-related outcomes, but outside of the United States there is limited HL research available, particularly among youth. This study looked at the HL and harmful health behavior (i.e., substance use) of 210 youth across 10 schools in Guatemala City. Based on results from the Newest Vital Sign (NVS) HL assessment, fewer than one third of youth sampled had adequate HL. Training/education to improve adolescent HL is needed in Guatemala City, and the unique skillset of social workers could be an idea method of reaching at-risk youth.

The short-rib polydactyly syndromes (SRPS) encompass a radiographically and genetically heterogeneous group of skeletal ciliopathies that are characterized by a long narrow chest, short extremities, and variable occurrence of polydactyly. Radiographic abnormalities include undermineralization of the calvarium, shortened and bowed appendicular bones, trident shaped acetabula and polydactyly. In a case of SRPS we identified compound heterozygosity for mutations in IFT52, which encodes a component of the anterograde intraflagellar transport complex. The IFT52 mutant cells synthesized a significantly reduced amount of IFT52 protein, leading to reduced synthesis of IFT74, IFT81, IFT88 and ARL13B, other key anterograde complex members. Ciliogenesis was also disrupted in the mutant cells, with a 60% reduction in the presence of cilia on mutant cells and loss of cilia length regulation for the cells with cilia. These data demonstrate that IFT52 is essential for anterograde complex integrity and for the biosynthesis and maintenance of cilia. The data identify a new locus for SRPS and show that IFT52 mutations result in a ciliopathy with primary effects on the skeleton., (© The Author 2016. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.)

The acrofacial dysostoses (AFD) are a genetically heterogeneous group of inherited disorders with craniofacial and limb abnormalities. Rodriguez syndrome is a severe, usually perinatal lethal AFD, characterized by severe retrognathia, oligodactyly and lower limb abnormalities. Rodriguez syndrome has been proposed to be a severe form of Nager syndrome, a non-lethal AFD that results from mutations in SF3B4, a component of the U2 small nuclear ribonucleoprotein particle (U2 snRNP). Furthermore, a case with a phenotype intermediate between Rodriguez and Nager syndromes has been shown to have an SF3B4 mutation. We identified heterozygosity for SF3B4 mutations in Rodriguez syndrome, confirming that the phenotype is a dominant disorder that is allelic with Nager syndrome. The mutations led to reduced SF3B4 synthesis and defects in mRNA splicing, primarily exon skipping. The mutations also led to reduced expression in growth plate chondrocytes of target genes, including the DLX5, DLX6, SOX9, and SOX6 transcription factor genes, which are known to be important for skeletal development. These data provide mechanistic insight toward understanding how SF3B4 mutations lead to the skeletal abnormalities observed in the acrofacial dysostoses., Competing Interests: The authors have declared that no competing interests exist.

Osteogenesis imperfecta (OI) is a genetic disorder that results in low bone mineral density and brittle bones. Most cases result from dominant mutations in the type I procollagen genes, but mutations in a growing number of genes have been identified that produce autosomal recessive forms of the disease. Among these include mutations in the genes SERPINH1 and FKBP10, which encode the type I procollagen chaperones HSP47 and FKBP65, respectively, and predominantly produce a moderately severe form of OI. Little is known about the biochemical consequences of the mutations and how they produce OI. We have identified a new OI mutation in SERPINH1 that results in destabilization and mislocalization of HSP47 and secondarily has similar effects on FKBP65. We found evidence that HSP47 and FKBP65 act cooperatively during posttranslational maturation of type I procollagen and that FKBP65 and HSP47 but fail to properly interact in mutant HSP47 cells. These results thus reveal a common cellular pathway in cases of OI caused by HSP47 and FKBP65 deficiency., (© The Author 2014. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.)

This study examines breast cancer knowledge, attitudes and screening behaviors of Hispanic women living in the South Texas colonias of Maverick and Val Verde Counties. We used the Health Belief Model to analyze the effects of HBM constructs on clinical breast exam (CBE) and mammogram screening. Using a multistage systematic sampling approach we interviewed women living within these colonias. Logistic regression analysis was used to predict CBE and mammography screening behaviors. The results indicate that knowledge, susceptibility, barriers and source of health information were statistically significant in predicting CBE among these women. In addition, background variables such as marital status and health insurance were also significant in predicting CBE. Findings further indicate that source of health information, barriers, and health insurance significantly predicts mammography screening behaviors. Results suggest that for women living in colonias along the South Texas Border socio-demographic variables play a significant role in CBE and mammography utilization.

This report identifies human skeletal diseases associated with mutations in WNT1. In 10 family members with dominantly inherited, early-onset osteoporosis, we identified a heterozygous missense mutation in WNT1, c.652T→G (p.Cys218Gly). In a separate family with 2 siblings affected by recessive osteogenesis imperfecta, we identified a homozygous nonsense mutation, c.884C→A, p.Ser295*. In vitro, aberrant forms of the WNT1 protein showed impaired capacity to induce canonical WNT signaling, their target genes, and mineralization. In mice, Wnt1 was clearly expressed in bone marrow, especially in B-cell lineage and hematopoietic progenitors; lineage tracing identified the expression of the gene in a subset of osteocytes, suggesting the presence of altered cross-talk in WNT signaling between the hematopoietic and osteoblastic lineage cells in these diseases.

Familial idiopathic basal ganglia calcification (IBGC) or Fahr's disease is a rare neurodegenerative disorder characterized by calcium deposits in the basal ganglia and other brain regions, which is associated with neuropsychiatric and motor symptoms. Familial IBGC is genetically heterogeneous and typically transmitted in an autosomal dominant fashion. We performed a mutational analysis of SLC20A2, the first gene found to cause IBGC, to assess its genetic contribution to familial IBGC. We recruited 218 subjects from 29 IBGC-affected families of varied ancestry and collected medical history, neurological exam, and head CT scans to characterize each patient's disease status. We screened our patient cohort for mutations in SLC20A2. Twelve novel (nonsense, deletions, missense, and splice site) potentially pathogenic variants, one synonymous variant, and one previously reported mutation were identified in 13 families. Variants predicted to be deleterious cosegregated with disease in five families. Three families showed nonsegregation with clinical disease of such variants, but retrospective review of clinical and neuroimaging data strongly suggested previous misclassification. Overall, mutations in SLC20A2 account for as many as 41% of our familial IBGC cases. Our screen in a large series expands the catalog of SLC20A2 mutations identified to date and demonstrates that mutations in SLC20A2 are a major cause of familial IBGC. Non-perfect segregation patterns of predicted deleterious variants highlight the challenges of phenotypic assessment in this condition with highly variable clinical presentation.

Fibrochondrogenesis is a severe, recessively inherited skeletal dysplasia shown to result from mutations in the gene encoding the proα1(XI) chain of type XI collagen, COL11A1. The first of two cases reported here was the affected offspring of first cousins and sequence analysis excluded mutations in COL11A1. Consequently, whole-genome SNP genotyping was performed to identify blocks of homozygosity, identical-by-descent, wherein the disease locus would reside. COL11A1 was not within a region of homozygosity, further excluding it as the disease locus, but the gene encoding the proα2(XI) chain of type XI collagen, COL11A2, was located within a large region of homozygosity. Sequence analysis identified homozygosity for a splice donor mutation in intron 18. Exon trapping demonstrated that the mutation resulted in skipping of exon 18 and predicted deletion of 18 amino acids from the triple helical domain of the protein. In the second case, heterozygosity for a de novo 9 bp deletion in exon 40 of COL11A2 was identified, indicating that there are autosomal dominant forms of fibrochondrogenesis. These findings thus demonstrate that fibrochondrogenesis can result from either recessively or dominantly inherited mutations in COL11A2., (Copyright © 2012 Wiley Periodicals, Inc.)

Despite many important efforts to increase equity in the US health care system, not all Americans have equal access to health care-or similar health outcomes. With the goal of lowering costs and increasing accessibility to health care, the nation's new health care reform legislation includes certain provisions that expand health insurance coverage to uninsured and underinsured populations, promote medical homes, and support coordination of care. These provisions may help narrow existing health care disparities. Many of the most vulnerable patients, however, may continue to have difficulty accessing and navigating the complex US health care delivery system. This article explores the unique role that patient navigation can play in improving health outcomes for racial and ethnic minorities, as well as other underserved populations, in the context of a changing healthcare environment. Patient navigators can not only facilitate improved health care access and quality for underserved populations through advocacy and care coordination, but they can also address deep-rooted issues related to distrust in providers and the health system that often lead to avoidance of health problems and non-compliance with treatment recommendations. By addressing many of the disparities associated with language and cultural differences and barriers, patient navigators can foster trust and empowerment within the communities they serve. Specific patient navigator activities are discussed, and metrics to evaluate program efforts are presented., (Copyright © 2011 American Cancer Society.)

Fibrochondrogenesis is a severe, autosomal-recessive, short-limbed skeletal dysplasia. In a single case of fibrochondrogenesis, whole-genome SNP genotyping identified unknown ancestral consanguinity by detecting three autozygous regions. Because of the predominantly skeletal nature of the phenotype, the 389 genes localized to the autozygous intervals were prioritized for mutation analysis by correlation of their expression with known cartilage-selective genes via the UCLA Gene Expression Tool, UGET. The gene encoding the α1 chain of type XI collagen (COL11A1) was the only cartilage-selective gene among the three candidate intervals. Sequence analysis of COL11A1 in two genetically independent fibrochondrogenesis cases demonstrated that each was a compound heterozygote for a loss-of-function mutation on one allele and a mutation predicting substitution for a conserved triple-helical glycine residue on the other. The parents who were carriers of missense mutations had myopia. Early-onset hearing loss was noted in both parents who carried a loss-of-function allele, suggesting COL11A1 as a locus for mild, dominantly inherited hearing loss. These findings identify COL11A1 as a locus for fibrochondrogenesis and indicate that there might be phenotypic manifestations among carriers., (Copyright © 2010 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.)

Diaphanospondylodysostosis (DSD) is a rare, recessively inherited, perinatal lethal skeletal disorder. The low frequency and perinatal lethality of DSD makes assembling a large set of families for traditional linkage-based genetic approaches challenging. By searching for evidence of unknown ancestral consanguinity, we identified two autozygous intervals, comprising 34 Mbps, unique to a single case of DSD. Empirically testing for ancestral consanguinity was effective in localizing the causative variant, thereby reducing the genomic space within which the mutation resides. High-throughput sequence analysis of exons captured from these intervals demonstrated that the affected individual was homozygous for a null mutation in BMPER, which encodes the bone morphogenetic protein-binding endothelial cell precursor-derived regulator. Mutations in BMPER were subsequently found in three additional DSD cases, confirming that defects in BMPER produce DSD. Phenotypic similarities between DSD and Bmper null mice indicate that BMPER-mediated signaling plays an essential role in vertebral segmentation early in human development., (Copyright © 2010 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.)

Fungi are ubiquitous microorganisms often associated with spoilage and biodeterioration of a large variety of foods and feedstuffs. Their growth may be influenced by temporary changes in intrinsic or environmental factors such as temperature, water activity, pH, preservatives, atmosphere composition, all of which may represent potential sources of stress. Molecular-based analyses of their physiological responses to environmental conditions would help to better manage the risk of alteration and potential toxicity of food products. However, before investigating molecular stress responses, appropriate experimental stress conditions must be precisely defined. Penicillium glabrum is a filamentous fungus widely present in the environment and frequently isolated in the food processing industry as a contaminant of numerous products. Using response surface methodology, the present study evaluated the influence of two environmental factors (temperature and pH) on P. glabrum growth to determine 'optimised' environmental stress conditions. For thermal and pH shocks, a large range of conditions was applied by varying factor intensity and exposure time according to a two-factorial central composite design. Temperature and exposure duration varied from 30 to 50 °C and from 10 min to 230 min, respectively. The effects of interaction between both variables were observed on fungal growth. For pH, the duration of exposure, from 10 to 230 min, had no significant effect on fungal growth. Experiments were thus carried out on a range of pH from 0.15 to 12.50 for a single exposure time of 240 min. Based on fungal growth results, a thermal shock of 120 min at 40 °C or a pH shock of 240 min at 1.50 or 9.00 may therefore be useful to investigate stress responses to non-optimal conditions., (Copyright © 2010 The British Mycological Society. Published by Elsevier Ltd. All rights reserved.)

Phagocytosis, which is essential for the immune response to pathogens, is initiated by specific interactions between pathogens and cell surface receptors expressed by phagocytes. This study identifies triggering receptor expressed on myeloid cells 2 (TREM-2) and its signaling counterpart DAP12 as a molecular complex that promotes phagocytosis of bacteria. Expression of TREM-2-DAP12 enables nonphagocytic Chinese hamster ovary cells to internalize bacteria. This function depends on actin cytoskeleton dynamics and the activity of the small guanosine triphosphatases Rac and Cdc42. Internalization also requires src kinase activity and tyrosine phosphorylation. In bone marrow-derived macrophages, phagocytosis is decreased in the absence of DAP12 and can be restored by expression of TREM-2-DAP12. Depletion of TREM-2 inhibits both binding and uptake of bacteria. Finally, TREM-2-dependent phagocytosis is impaired in Syk-deficient macrophages. This study highlights a novel role for TREM-2-DAP12 in the immune response to bacterial pathogens.

The purpose of this study was to examine ethnic and marital status differences in family structure, risk behaviors and service requests among African American and Hispanic adolescent fathers participating in a community-based fatherhood program. Demographic factors, risk behaviors, and service requests were gathered at program entry. The results indicated that each group demonstrated distinct patterns associated with family structure, sexual risk behaviors, substance use, and criminal behavior. In comparison to African American fathers, Hispanic fathers were younger and were more likely to be married and present at the delivery of their child. African American fathers reported having more children than Hispanic fathers. Disparities in school-related measures were also found, with African American fathers having higher high school graduation rates than Hispanic fathers. The impact of marriage on risk behaviors had mixed results. Services requests were similar for both groups. The finding that different ethnic groups have specific patterns of risk behaviors highlights the importance of considering the ethnic composition of a population when developing future research and interventions.

In ten cases of apparently primary acute leukaemia, the discovery of a Philadelphia chromosome at routine examination of the caryotype led a diagnosis of blastic crisis of chronic myeloid leukemia. The clinical, cytological and cytogenetic pictures varied and only routine caryotypic examination may be used in reaching the diagnosis. The prognosis appear to be less bad than in blastic crises occurring after a long course of chronic myeloid leukaemia and closer to that of primary acute myeloid leukaemia.