Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines.

Peroxisome biogenesis disorders in the Zellweger spectrum (PBD-ZSD) are a heterogeneous group of genetic disorders caused by mutations in PEX genes responsible for normal peroxisome assembly and functions. As a result of impaired peroxisomal activities, individuals with PBD-ZSD can manifest a complex spectrum of clinical phenotypes that typically result in shortened life spans. The extreme variability in disease manifestation ranging from onset of profound neurologic symptoms in newborns to progressive degenerative disease in adults presents practical challenges in disease diagnosis and medical management.

TP73, an under-appreciated player in non-Hodgkin lymphoma pathogenesis and management.

The TP73 gene is a member of the TP53 family with high structural homology to p53 and capable of transactivating p53 target genes. The TP73 gene locus which is highly conserved and complex, encodes for two classes of isoforms TAp73 (tumor suppressor isoforms containing the transactivation domain) and ΔNp73 (oncogenic isoforms, truncated and lacking the transactivation domain) with opposing effects. The balance between TAp73 and ΔNp73 isoforms and their harmony with other members of the TP73 family regulate various cellular responses such as apoptosis, autophagy, proliferation, and differentiation.

Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene.

Liver phosphorylase b kinase (PhK) deficiency (glycogen storage disease type IX), one of the most common causes of glycogen storage disease, is caused by mutations in the PHKA2, PHKB, and PHKG2 genes. Presenting symptoms include hepatomegaly, ketotic hypoglycemia, and growth delay. Clinical severity varies widely.

Lymphoma cytogenetics.

Lymphomas are a heterogeneous group of neoplasms with distinct morphologic, immunologic, and cytogenetic characteristics. Overlapping morphologic and immunophenotypic features often makes accurate diagnosis difficult. Cytogenetics helps simplify the diagnostic complexities presented in transforming and progressive lymphoid malignancies.

The art and science of teratogen risk communication.

Despite scientific advances in clinical teratology, exposures during pregnancy still cause great anxiety and misunderstanding. Patients and health care providers are frequently called upon to determine the health implications of scientific studies, which may involve limited and contradictory data. These findings are often conveyed numerically, which is a particularly difficult form of information for both patients and their health providers to understand and interpret.

An increased frequency of 13q deletions detected by fluorescence in situ hybridization and its impact on survival in children and adolescents with Burkitt lymphoma: results from the Children's Oncology Group study CCG-5961.

Burkitt lymphoma (BL), an aggressive B-cell malignancy, is often curable with short intensive treatment regiments. Nearly all BLs contain rearrangements of the MYC/8q24 region; however, recent cytogenetic studies suggest that certain secondary chromosomal aberrations in BL correlate with an adverse prognosis. In this multi-centre study, the frequency and impact on clinical outcome of del(13q) and +7 in addition to MYC rearrangements as detected by fluorescence in situ hybridization (FISH) in children and adolescents with intermediate and high-risk BL registered on Children's Cancer Group study CCG-5961 were investigated.

9q34 rearrangements in BCR/ABL fusion-negative acute lymphoblastic leukemia.

The t(9;22)(q11.2;q34) translocation is found in a subset of acute lymphoblastic leukemia (ALL). The presence of this translocation involving the fusion of BCR/ABL genes represents a poor prognostic group.

Cytogenetics and fluorescence in situ hybridization studies of diffuse large B-cell lymphoma in children and young adults.

Diffuse large B-cell lymphoma (DLBCL), the most common subtype of adult non-Hodgkin lymphoma (NHL), is infrequently seen in adolescents and is rare in children. Due to the infrequency of the disease, single institution-based cytogenetic and fluorescence in situ hybridization (FISH) studies of pediatric DLBCL have not been reported so far and, hence, the possible differences in pediatric and adult DLBCL have not been evaluated. We performed cytogenetic and FISH analyses of 7 pediatric and 5 young adult DLBCL cases referred to the University of Nebraska Medical Center.

Herbal agents and over-the-counter medications in pregnancy.

Exposures to over-the-counter and herbal products are frequent in pregnant women. Limited information exists on the effects of many of these agents during pregnancy; it is not safe to assume that because these products are available without a prescription that they are without danger to the pregnant woman and her fetus. The basic principles utilized in deciding whether to employ prescription medications such as dose, embryological timing and potential toxic fetal effects also apply to herbal medications and over-the-counter agents.

Cytogenetic characterization of diffuse large cell lymphoma using multi-color fluorescence in situ hybridization.

We have employed multi-color fluorescence in situ hybridization (M-FISH) to characterize the cytogenetic changes in 20 diffuse large B-cell lymphomas (DLBCL), that contained complex and partially characterized karyotypes. The M-FISH analysis helped to delineate 94% of the unidentified abnormalities and assisted in redefining some unidentified/misidentified karyotypic changes. Recurrent breakpoints observed in approximately 20% cases included 14q32, 3p21, 3q27, 22q12, 1q25, and 18q21 (in decreasing order), and 1p22, 1q21, 4q31, 6q21, and 8q24 (in four cases each).