Yayıncı "Univ Chicago Press" Dahili Tıp Bilimleri Bölümü için listeleme
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A European Organization for Research and Treatment of Cancer - International Antimicrobial Therapy Group Study of Secondary Infections in Febrile, Neutropenic Patients with Cancer
(Univ Chicago Press, 2005)Background. Neutropenic patients with cancer may develop several episodes of fever and infection during chemotherapy-induced myeloaplasia. Methods. To identify risk factors for secondary infectious episodes among patients ... -
Activity of Amoxicillin/Clavulanate in Patients with Tuberculosis
(Univ Chicago Press, 1998)Some beta-lactam antibiotics are active in vitro against Mycobacterium tuberculosis. There are anecdotal reports of successful treatment of tuberculosis caused by multiple-drug-resistant strains of M. tuberculosis with ... -
Assignment of the Muscle-Eye-Brain Disease Gene to 1P32-P34 by Linkage Analysis and Homozygosity Mapping
(Univ Chicago Press, 1999)Muscle-eye-brain disease (MEB) is an autosomal recessive disease of unknown etiology characterized by severe mental retardation, ocular abnormalities, congenital muscular dystrophy, and a polymicrogyria-pachygyria-type ... -
Escobar Syndrome Is A Prenatal Myasthenia Caused By Disruption Of The Acetylcholine Receptor Fetal Gamma Subunit
(Univ Chicago Press, 2006)Escobar syndrome is a form of arthrogryposis multiplex congenita and features joint contractures, pterygia, and respiratory distress. Similar findings occur in newborns exposed to nicotinergic acetylcholine receptor (AChR) ... -
Identification Of A New Locus For A Peculiar Form Of Congenital Muscular Dystrophy With Early Rigidity Of The Spine, On Chromosome 1P35-36
(Univ Chicago Press, 1998)Classical congenital muscular dystrophies (CMDs) are autosomal recessive neuromuscular disorders characterized by early onset of hypotonia and weakness, atrophy of limbs and trunk muscles, contractures, and dystrophic ... -
Interleukin (Il)-12 And Il-23 Are Key Cytokines For Immunity Against Salmonella In Humans
(Univ Chicago Press, 2004)Patients with inherited deficiency of the interleukin (IL)-12/IL-23-interferon (IFN)-gamma axis show increased susceptibility to invasive disease caused by the intramacrophage pathogens salmonellae and mycobacteria. We ... -
Localization of a Gene for Autosomal Recessive Distal Renal Tubular Acidosis with Normal Hearing (Rdrta2) to 7Q33-34
(Univ Chicago Press, 1999)Failure of distal nephrons to excrete excess acid results in the "distal renal tubular acidoses" (dRTA). Early childhood features of autosomal recessive dRTA include severe metabolic acidosis with inappropriately alkaline ... -
Mutations In A Gene Encoding A Novel Sh3/Tpr Domain Protein Cause Autosomal Recessive Charcot-Marie-Tooth Type 4C Neuropathy
(Univ Chicago Press, 2003)Charcot-Marie-Tooth disease type 4C (CMT4C) is a childhood-onset demyelinating form of hereditary motor and sensory neuropathy associated with an early-onset scoliosis and a distinct Schwann cell pathology. CMT4C is inherited ... -
Mutations In Col6A3 Cause Severe And Mild Phenotypes Of Ullrich Congenital Muscular Dystrophy
(Univ Chicago Press, 2002)Ullrich congenital muscular dystrophy (UCMD) is an autosomal recessive disorder characterized by generalized muscular weakness, contractures of multiple joints, and distal hyperextensibility. Homozygous and compound ... -
Mutations In The Gene Encoding Capillary Morphogenesis Protein 2 Cause Juvenile Hyaline Fibromatosis And Infantile Systemic Hyalinosis
(Univ Chicago Press, 2003)Juvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISH) are autosomal recessive conditions characterized by multiple subcutaneous skin nodules, gingival hypertrophy, joint contractures, and hyaline ... -
Primary Cutaneous Aspergillosis in Human Immunodeficiency Virus-Infected Patients: Two Cases and Review
(Univ Chicago Press, 1998) -
Risk Factors and Predictors of Outcome in Patients with Cancer and Breakthrough Candidemia
(Univ Chicago Press, 2001)Hematogenous candidiasis adds substantially to the morbidity and mortality rates of patients with cancer. Little is known about the risk factors and outcome in patients with breakthrough (BT) candidemia while on systemic ... -
The Fanconi Anemia Group E Gene, Fance, Maps to Chromosome 6P
(Univ Chicago Press, 1999)Fanconi anemia (FA) is a genetically heterogeneous autosomal recessive disease with bone marrow failure and predisposition to cancer as major features, often accompanied by developmental anomalies. The cells of patients ... -
The Novel Genetic Disorder Microhydranencephaly Maps To Chromosome 16P13.3-12.1
(Univ Chicago Press, 2000)We studied a large consanguineous Anatolian family with children who exhibited hydranencephaly associated with microcephaly. The children were severely affected. This novel genetic disorder is autosomal recessive. We used ... -
The Novel Neuronal Ceroid Lipofuscinosis Gene Mfsd8 Encodes A Putative Lysosomal Transporter
(Univ Chicago Press, 2007)The late-infantile-onset forms are the most genetically heterogeneous group among the autosomal recessively inherited neurodegenerative disorders, the neuronal ceroid lipofuscinoses (NCLs). The Turkish variant was initially ... -
Two New Loci For Autosomal Recessive Ichthyosis On Chromosomes 3P21 And 19P12-Q12 And Evidence For Further Genetic Heterogeneity
(Univ Chicago Press, 2000)Autosomal recessive ichthyosis (ARI) includes a heterogeneous group of disorders of keratinization characterized by desquamation over the whole body. Two forms largely limited to the skin have been defined: lamellar ... -
Vacuoliting Megalencephalic Leukoencephalopathy With Subcortical Cysts, Mapped To Chromosome 22Q(Tel)
(Univ Chicago Press, 2000)The leukodystrophies form a complex group of orphan genetic disorders that primarily affect myelin, the main constituent of the brain white matter. Among the leukodystrophies of undetermined etiology, a new clinical entity ...