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Occurrence of a Tyr393----Asn (Y393N) mutation in the E1 alpha gene of the branched-chain alpha-keto acid dehydrogenase complex in maple syrup urine disease patients from a Mennonite population.

Maple syrup urine disease (MSUD) is caused by a deficiency in the mitochondrial branched-chain alpha-keto acid dehydrogenase complex. The incidence of MSUD in the Philadelphia Mennonites is 1/176 births resulting from consanguinity. In this study, we amplified cDNAs for the decarboxylase E1 alpha subunit of the branched-chain alpha-keto acid dehydrogenase complex from a classical MSUD patient and from an obligatory heterozygote of a Mennonite family by the PCR. Sequencing of the amplified cDNAs disclosed at codon 393 of the mature E1 alpha polypeptide a base substitution changing a tyrosine (e…

The evolving therapeutic revolution in adult acute lymphoblastic leukemia.

The past decade has witnessed remarkable advances in deciphering the pathophysiology of acute lymphoblastic leukemia (ALL) and in developing novel targeted therapies. Basic research and genomic mapping have identified new prognostic biomarkers, targets, and ALL subtypes (e.g., Philadelphia-like ALL). The ongoing therapeutic revolution in ALL is driven by the addition to the treatment arsenal of therapies that target the ABL fusions, like the BCR::ABL1 tyrosine kinase inhibitors, as well as novel agents that target CD19 and CD22: the CD22 antibody-drug conjugate inotuzumab ozogamicin, the bispe…

Оценка периода передачи вируса Западного Нила в Пенсильвании с использованием оптимизированной модели степеней.

Мы предоставляем калиброванные модели степеней для прогнозирования потенциальных периодов передачи вируса Западного Нила (ВНВ) в Пенсильвании. Мы начинаем с применения стандартного подхода, предусматривающего получение дипломов, необходимых для завершения периода экстринической инкубации (EIP), и продолжительность жизни комаров в качестве постоянных. Такой подход не позволил надлежащим образом объяснить периоды передачи вируса на основе данных наблюдения за комарами в 4 пунктах (Гаррисбург, Филадельфия, Питтсбург и Уильямспорт) в Пенсильвании с 2002 по 2008 год. Обеспечение того, чтобы ЭПИ и п

Совпадение в аннотации оригинала
Abstract We provide calibrated degree-day models to predict potential West Nile virus (WNV) transmission periods in Pennsylvania. We begin b … xplain virus transmission periods based on mosquito surveillance data from 4 locations (Harrisburg, Philadelphia, Pittsburgh, and Williamsport) in Pennsylvania from 2002 to 2008. Allowing the EIP and adult longevity to vary across time and space improved model fit substantially. The calibrated models increase the ability to successfully predict the WNV transmi …

[Adult acute lymphoblastic leukemia].

The diagnosis of adult acute lymphoblastic leukemia (ALL) and the recognition of immuno-genetic entities according to the WHO classification require a comprehensive clinical and biological work-up. The diagnosis of Burkitt mature B-cell ALL is an emergency, since intensive chemotherapy and tumour lysis syndrome prevention lead to an 80% cure rate. Within one week, distinction must be established between B-cell Philadelphia chromosome-positive (Ph+) ALL on one side, Philadelphia-negative B-cell ALL and T cell ALL on the other. The once severe Ph+ ALL now displays a 70% long-term survival rate w…

PTEN is a tumor suppressor in CML stem cells and BCR-ABL-induced leukemias in mice.

The tumor suppressor gene phosphatase and tensin homolog (PTEN) is inactivated in many human cancers. However, it is unknown whether PTEN functions as a tumor suppressor in human Philadelphia chromosome-positive leukemia that includes chronic myeloid leukemia (CML) and B-cell acute lymphoblastic leukemia (B-ALL) and is induced by the BCR-ABL oncogene. By using our mouse model of BCR-ABL-induced leukemias, we show that Pten is down-regulated by BCR-ABL in leukemia stem cells in CML and that PTEN deletion causes acceleration of CML development. In addition, overexpression of PTEN delays the deve…

The HL-60 model for the interaction of human macrophages with the Legionnaires' disease bacterium.

The facultative intracellular pathogen, Legionella pneumophila, multiplies within and kills human monocytes and alveolar macrophages. We show that L. pneumophila strain Philadelphia-1 infects, multiplies within and kills the promyelocyte HL-60 cell line after its differentiation into macrophage-like cells. The characteristics of the interaction between L. pneumophila and differentiated HL-60 cells closely resemble those between L. pneumophila and human peripheral blood monocytes. With both cell types, C receptors and serum C mediate attachment of L. pneumophila, which are taken up by coiling p…

Patho-anatomical features of so-called Ph1- chronic myeloid leukemia.

Chronic myeloid leukemia without the Philadelphia chromosome (Ph1-CML) is described and distinguished from chronic myeloid leukemia with the Philadelphia chromosome (Ph1+CML) on the basis of clinical and autopsy findings of four cases. Ph1-CML showed clinical, hematological, and patho-anatomical features which could be regarded as typical. Patho-anatomically Ph1-CML differed from Ph1+CML in the variable maturation of the leukemic proliferation in the bone marrow and extramedullary infiltrates. Up to the terminal phase Ph1-CML can be of an extremely mature cell type. However, it can also show m…

The Secret Kappa Lambda Society of Hippocrates (and the Origin of the American Medical Association's Principles of Medical Ethics).

This paper relates the neglected history of an idealistic, secret medical fraternity which existed briefly in Lexington, Kentucky, during th … s Percival's code of medical ethics in this country. Branches of the fraternity were established in Philadelphia and New York City, where members became influential in local medical politics but in time encountered hostility from rival physicians. The secret character of the fraternity branches was publicized and maligned during an anti-Masonic movement in thi …

[Choice of antimicrobial therapy for Legionnella infection].

Legionella pneumophila is an intracellularly-growing microorganism and the causative agent of Legionnaires' disease; this disease owes its name to the epidemic among American war veterans in Philadelphia in 1976. The analysis ofthe epidemic in Philadelphia revealed--retrospectively--that unlike beta-lactam antibiotica, erythromycin and tetracyclines provided protection against an unfavourable outcome. Despite the absence of prospective, blinded, randomised clinical trials, a well-founded choice for the antibiotic treatment of patients with a Legionella infection can be made using the evidence …

[Dysmegakaryocytopoiesis and dysthrombopoiesis in myeloproliferative syndromes].

Megakaryocyte proliferation in bone marrow is a feature common to the three Philadelphia negative chromosome myeloproliferative disorders (MPD)--essential thrombocythemia (ET), polycythemia vera, and myelofibrosis with splenic myeloid metaplasia--and chronic myelocytic leukemia. Enlarged megakaryocytes, clustering in close neighbouring with multilobulated nuclei are the hallmark of all the Philadelphia negative chromosome MPD. Clonality of hematopoietic cells, based on X-chromosome inactivation can now be studied in a majority of female patients in all nucleated cell fractions as well as in pl…

Cerebrospinal fluid distribution and pharmacokinetics of ponatinib in Ph1+ acute lymphoblastic leukemia.

Tyrosine kinase inhibitors efficacy in central nervous system (CNS) disease remains uncertain. Ponatinib was studied for CNS distribution in 16 patients with Philadelphia-positive acute lymphoblastic leukemia. Cerebrospinal fluid concentrations fell below the 40 nM threshold, suggesting suboptimal CNS exposure.

Isochromosome 17q in two cases of acute blast transformation in myeloproliferative disorders.

Two cases of acute blast cell transformation in myeloproliferative disorders associated with a dicentric 17q isochromosome are reported. In both cases, the karyotypes also included a Philadelphia 9q;22q translocation, and in one case, an additional chromosome 8 (trisomy 8).

Coexistent chronic myeloid leukemia and IgA monoclonal gammopathy: report of a case and review of the literature.

The coexistence of Philadelphia negative chronic granulocytic leukemia (CGL) of the neutrophilic type and IgA monoclonal gammopathy is reported in a patient. The possible relation between the two proliferative processes is discussed in the light of current knowledge on the pluripotent stem cell and the clonal origin of CGL.

Legionella and the enterobacterial common antigen.

Legionella pneumophilia Philadelphia 1 and Knoxville 1 were examined by in vitro hemagglutination and dermal hypersensitivity reactions in guinea pigs for the presence of the enterobacterial common antigen. No ECA was found and no cross reactivity was demonstrated between ECA and the proteinaceous cross reacting antigen.

"The President's Syndrome": The Diagnosis and Treatment of Gerald Ford's Lingual Actinomycosis.

Gerald R. Ford was the 38th president of the United States. He was appointed as vice president by Richard Nixon in 1974 upon the resignation of Spiro T. Agnew. In the midst of the Watergate Crisis, Nixon resigned making Ford the only president to serve without being elected as either president or vice president. In the year 2000, 13 years after his abbreviated term in office, he was attending the Republican National Convention in Philadelphia where he developed pain in his tongue, slurring of his speech, and signs of a stroke. He was taken to the emergency room of Hahnemann University Hospital…

Chronic myeloid leukemia from basics to bedside.

The discovery of the Philadelphia chromosome and its consistent involvement in chronic myeloid leukemia (CML) was the first time that a relationship between a cytogenetic abnormality and malignancy was demonstrated. This review will try to provide an insight into the molecular mechanisms underlying this disease and outline the therapeutical options for patients with CML.

Frequency of chromosomal abnormalities in Pakistani adults with acute lymphoblastic leukemia.

BACKGROUND: The difference in prognosis of adult and childhood acute lymphoblastic leukemia (ALL) can be attributed largely to variation in … (n=77) of the cases whereas 49% (n=74) had an abnormal karyotype. Of the abnormal cases, 10% showed Philadelphia chromosome; t(9;22)(q34;q11.2). Other poor prognostic cytogenetic subgroups were t(4;11)(q21;q23), hypodiploidy (35-45 chromosomes) and complex karyotype. Hyperdiploidy (47-57 chromosomes) occurred in 6.6%; all of whom were younger than 30 years. C …

Cellular and molecular responses of Saudi chronic myeloid leukaemia patients to imatinib (STI-571): ten year experience.

BACKGROUND: The cyto-genetic hallmark of chronic myeloid leukaemia (CML), the Philadelphia chromosome (Ph), is the first consistent chromosomal abnormality that has been associated to a certain cancer type. In CML, Philadelphia chromosome is present leading to resistance to cell death and rapid proliferation. The aim of this study is to evaluate the different responses, toxicity and survival of Saudi CML patients to imatinib mesylate. METHODS: All newly diagnosed CML patients who were treated with imatinib were included in this study. We investigated haematological, and molecular and cytogene…

Synthetic control methods enable stronger causal inference using participatory science data in cities.

Urban environments pose unique challenges for understanding drivers of biodiversity change, as fragmented land ownership makes traditional b … on the number of research-grade iNaturalist bee observations, used as a proxy for bee abundance, in Philadelphia, USA. The synthetic control estimated a 15.5-20.9% decline in bee observations in the 2 years post-event. By contrast, three conventional ecological analyses-an interrupted time-series regression, before-after comparison and a before-after control i …