Arteriohepatic dysplasia: a benign syndrome of intrahepatic cholestasis with multiple organ involvement.

Abstract:

:Arteriohepatic dysplasia (Alagille's syndrome) is presumed to be one of the familial intrahepatic cholestatic syndromes, all of which present with neonatal jaundice or failure to thrive, or both. We report the findings in five patients with this syndrome, four of whom have been followed into adulthood. In addition to hepatic dysfunction, patients had abnormalities of the cardiovascular system, eyes, bones, central nervous system, kidney, endocrine system, and habitus. Analysis of these cases allows a more complete characterization of this syndrome and shows that the cholestasis improves, although the abnormalities of the hands and face become more pronounced, with age. Patients with arteriohepatic dysplasia display the variability in expression seen in many autosomal-dominant conditions. New findings in the eye and spine provide markers specific for this syndrome and serve to differentiate it from other forms of cholestatic liver disease.

journal_name

Ann Intern Med

authors

Riely CA,Cotlier E,Jensen PS,Klatskin G

doi

10.7326/0003-4819-91-4-520

subject

Has Abstract

pub_date

1979-10-01 00:00:00

pages

520-7

issue

4

eissn

0003-4819

issn

1539-3704

journal_volume

91

pub_type

杂志文章
  • The reversible dementias: do they reverse?

    abstract::Thirty-two studies (2889 subjects) that investigated the prevalence of the causes of dementia were critically reviewed. Particular attention was paid to potential and actual reversibility. Although dementia manifests itself primarily in old age (particularly age 75 and older), the mean age of patients for the studies ...

    journal_title:Annals of internal medicine

    pub_type: 杂志文章,评审

    doi:10.7326/0003-4819-109-6-476

    authors: Clarfield AM

    更新日期:1988-09-15 00:00:00

  • Characteristics and short-term prognosis of perioperative myocardial infarction in patients undergoing noncardiac surgery: a cohort study.

    abstract:BACKGROUND:Each year, millions of patients worldwide have a perioperative myocardial infarction (MI) after noncardiac surgery. OBJECTIVE:To examine the characteristics and short-term outcome of perioperative MI. DESIGN:Cohort study. (ClinicalTrials.gov registration number: NCT00182039) SETTING:190 centers in 23 coun...

    journal_title:Annals of internal medicine

    pub_type: 杂志文章,多中心研究

    doi:10.7326/0003-4819-154-8-201104190-00003

    authors: Devereaux PJ,Xavier D,Pogue J,Guyatt G,Sigamani A,Garutti I,Leslie K,Rao-Melacini P,Chrolavicius S,Yang H,Macdonald C,Avezum A,Lanthier L,Hu W,Yusuf S,POISE (PeriOperative ISchemic Evaluation) Investigators.

    更新日期:2011-04-19 00:00:00

  • Amyloid deposition in a renal transplant in familial Mediterranean fever.

    abstract::A patient with familial Mediterranean fever and amyloidosis who received a cadaver renal transplant 6 1/2 years ago was studied to determine the relation of the serum precursor of secondary amyloid (SAA) to the clinical course and to the deposition of amyloid in the transplant. Amyloid fibrils extracted from the patie...

    journal_title:Annals of internal medicine

    pub_type: 杂志文章

    doi:10.7326/0003-4819-87-1-31

    authors: Benson MD,Skinner M,Cohen AS

    更新日期:1977-07-01 00:00:00

  • Lipophilic Statins and Risk for Hepatocellular Carcinoma and Death in Patients With Chronic Viral Hepatitis: Results From a Nationwide Swedish Population.

    abstract:Background:Whether statin type influences hepatocellular carcinoma (HCC) incidence or mortality in chronic hepatitis B or C virus infection is unknown. Objective:To assess the relationship between lipophilic or hydrophilic statin use and HCC incidence and mortality in a nationwide population with viral hepatitis. Des...

    journal_title:Annals of internal medicine

    pub_type: 杂志文章

    doi:10.7326/M18-2753

    authors: Simon TG,Duberg AS,Aleman S,Hagstrom H,Nguyen LH,Khalili H,Chung RT,Ludvigsson JF

    更新日期:2019-09-03 00:00:00

  • Ethionamide-induced goitrous hypothyroidism.

    abstract::A 42-year-old woman developed goitrous hypothyroidism while receiving ethionamide for treatment of an atypical mycobacterial infection. Five weeks after discontinuation of ethionamide therapy, thyroid function had returned to normal. The goitrogenic effect was studied in vitro by incubating ethionamide in various conc...

    journal_title:Annals of internal medicine

    pub_type: 杂志文章

    doi:10.7326/0003-4819-100-6-837

    authors: Drucker D,Eggo MC,Salit IE,Burrow GN

    更新日期:1984-06-01 00:00:00

  • Type III hyperlipoproteinemia: diagnosis in whole plasma by apolipoprotein-E immunoassay.

    abstract::Because the cholesterol-rich very low density (VLD) lipoproteins of subjects with type III hyperlipoproteinemia are distinctively enriched in apolipoprotein E, a radial immunodiffusion assay for apolipoprotein E in whole plasma was developed. Its diagnostic usefulness was tested in randomly selected (n = 174) and hype...

    journal_title:Annals of internal medicine

    pub_type: 杂志文章

    doi:10.7326/0003-4819-87-5-509

    authors: Kushwaha RS,Hazzard WR,Wahl PW,Hoover JJ

    更新日期:1977-11-01 00:00:00

  • Nutritional vitamin-B12 deficiency. Possible contributory role of subtle vitamin-B12 malabsorption.

    abstract::Dietary deficiency of vitamin B-12 has been reported, yet most people ingesting vitamin-B12-deficient diets even for many years appear to achieve a balance that does not lead to overt signs and symptoms of deficiency. I present the case of a vegan of 25 years' duration who developed severe neurologic abnormalities due...

    journal_title:Annals of internal medicine

    pub_type: 杂志文章

    doi:10.7326/0003-4819-88-5-647

    authors: Carmel R

    更新日期:1978-05-01 00:00:00

  • Self-assessment of tuberculin skin test reactions by New York City firefighters: reliability and cost-effectiveness in an occupational health care setting.

    abstract:OBJECTIVE:To determine whether self-assessment of purified protein derivative of tuberculin (PPD) skin test reactions, done using a simple two-choice approach, is an effective screening method for tuberculosis. DESIGN:Double-blind comparison between self-assessments and trained professional readings of PPD skin test r...

    journal_title:Annals of internal medicine

    pub_type: 杂志文章

    doi:10.7326/0003-4819-125-4-199608150-00004

    authors: Prezant DJ,Kelly KJ,Karwa ML,Kavanagh K

    更新日期:1996-08-15 00:00:00

  • Monitoring therapy in patients taking levothyroxine.

    abstract:PURPOSE:To evaluate the use of thyroid function tests to monitor therapy in patients taking levothyroxine. DATA IDENTIFICATION:Studies published between 1966 and January 1990 were identified through computer searches and references of identified studies. STUDY SELECTION:Studies that included a careful description of ...

    journal_title:Annals of internal medicine

    pub_type: 杂志文章,meta分析

    doi:10.7326/0003-4819-113-6-450

    authors: Helfand M,Crapo LM

    更新日期:1990-09-15 00:00:00

  • Inheritance of mitral valve prolapse: effect of age and sex on gene expression.

    abstract::To ascertain if mitral valve prolapse is inherited we studied 45 probands and 179 first-degree relatives. Echocardiographic mitral prolapse was present in 54 of 179 first-degree relatives (30%); at least one first-degree relative was affected in 29 families, including members of two generations in 23 families. The num...

    journal_title:Annals of internal medicine

    pub_type: 杂志文章

    doi:10.7326/0003-4819-97-6-826

    authors: Devereux RB,Brown WT,Kramer-Fox R,Sachs I

    更新日期:1982-12-01 00:00:00

  • Patients' and cardiologists' perceptions of the benefits of percutaneous coronary intervention for stable coronary disease.

    abstract:BACKGROUND:It is unclear whether patients understand that percutaneous coronary intervention (PCI) reduces only chronic stable angina and not myocardial infarction (MI) or associated mortality. OBJECTIVE:To compare cardiologists' and patients' beliefs about PCI. DESIGN:Survey. SETTING:Academic center. PARTICIPANTS:...

    journal_title:Annals of internal medicine

    pub_type: 杂志文章

    doi:10.7326/0003-4819-153-5-201009070-00005

    authors: Rothberg MB,Sivalingam SK,Ashraf J,Visintainer P,Joelson J,Kleppel R,Vallurupalli N,Schweiger MJ

    更新日期:2010-09-07 00:00:00

  • The influence of standard of care and severity of injury on the resolution of medical malpractice claims.

    abstract:OBJECTIVE:To explore how frequently physicians lose medical malpractice cases despite providing standard care and to assess whether severity of patient injury influences the frequency of plaintiff payment. DESIGN:Retrospective cohort study. SETTING:Physicians from the state of New Jersey insured by one insurance comp...

    journal_title:Annals of internal medicine

    pub_type: 杂志文章

    doi:10.7326/0003-4819-117-9-780

    authors: Taragin MI,Willett LR,Wilczek AP,Trout R,Carson JL

    更新日期:1992-11-01 00:00:00

  • The association between midlife cardiorespiratory fitness levels and later-life dementia: a cohort study.

    abstract:BACKGROUND:Primary prevention of Alzheimer disease and other types of dementia (all-cause dementia) is an important public health goal. Evidence to date is insufficient to recommend any lifestyle change to prevent or delay the onset of dementia. OBJECTIVE:To assess the association between objectively measured midlife ...

    journal_title:Annals of internal medicine

    pub_type: 杂志文章

    doi:10.7326/0003-4819-158-3-201302050-00005

    authors: Defina LF,Willis BL,Radford NB,Gao A,Leonard D,Haskell WL,Weiner MF,Berry JD

    更新日期:2013-02-05 00:00:00

  • Colony-stimulating factors and host defense.

    abstract::Colony-stimulating factors are growth factors responsible for the proliferation and the maturation of bone marrow stem cells to fully differentiated granulocytes and monocytes. In addition to their effects on hematopoiesis, some colony-stimulating factors prime mature cells for enhanced chemotaxis, phagocytosis, and k...

    journal_title:Annals of internal medicine

    pub_type: 临床试验,杂志文章,评审

    doi:10.7326/0003-4819-110-4-297

    authors: Weisbart RH,Gasson JC,Golde DW

    更新日期:1989-02-15 00:00:00

  • Duration of immunity after hepatitis B vaccination: efficacy of low-dose booster vaccine.

    abstract::Although the efficacy of hepatitis vaccine is well documented, the duration of immunity of healthy adults after vaccination is unknown. We studied 245 hospital employees 3 years after primary vaccination with hepatitis B vaccine to determine the prevalence of immunity indicated by levels of antibody to hepatitis B sur...

    journal_title:Annals of internal medicine

    pub_type: 杂志文章

    doi:10.7326/0003-4819-108-2-185

    authors: Horowitz MM,Ershler WB,McKinney WP,Battiola RJ

    更新日期:1988-02-01 00:00:00

  • Serratia marcescens endocarditis: a regional illness associated with intravenous drug abuse.

    abstract::From 1969 to 1974, 19 cases of Serratia marcescens endocarditis were observed in the San Francisco Bay Area. Seventeen patients were intravenous drug users, and Serratia caused 14% of all addict-associated endocarditis in San Francisco. Serratia strains were nonpigmented and had typical antibiotic sensitivities, excep...

    journal_title:Annals of internal medicine

    pub_type: 杂志文章

    doi:10.7326/0003-4819-84-1-29

    authors: Mills J,Drew D

    更新日期:1976-01-01 00:00:00

  • Palliative treatments of last resort: choosing the least harmful alternative. University of Pennsylvania Center for Bioethics Assisted Suicide Consensus Panel.

    abstract::Comprehensive palliative care, as exemplified by many state-of-the-art hospice programs, is the standard of care for the dying. Although palliative care is very effective, physicians, nurses, patients, families, and loved ones regularly face clinically, ethically, legally, and morally challenging decisions throughout ...

    journal_title:Annals of internal medicine

    pub_type: 杂志文章

    doi:10.7326/0003-4819-132-6-200003210-00011

    authors: Quill TE,Lee BC,Nunn S

    更新日期:2000-03-21 00:00:00

  • Why change? A look at the current system of disability determination and workers' compensation for occupational lung disease.

    abstract::Under the current system of disability determination and workers' compensation for occupational lung disease, disabled workers or their survivors can reasonably count on being compensated. However, by rejecting established scientific truth in order to pay workers' compensation in circumstances where disability or deat...

    journal_title:Annals of internal medicine

    pub_type: 杂志文章

    doi:10.7326/0003-4819-97-6-908

    authors: Richman SI

    更新日期:1982-12-01 00:00:00

  • Documentation and evaluation of cognitive impairment in elderly primary care patients.

    abstract:OBJECTIVE:To describe the prevalence of cognitive impairment among elderly primary care patients and to compare diagnostic evaluations and use of health services among patients with and those without cognitive impairment. DESIGN:Prospective cohort study. SETTING:Academic primary care group practice. PATIENTS:3954 pa...

    journal_title:Annals of internal medicine

    pub_type: 杂志文章

    doi:10.7326/0003-4819-122-6-199503150-00004

    authors: Callahan CM,Hendrie HC,Tierney WM

    更新日期:1995-03-15 00:00:00

  • Chemoprevention of breast cancer: a summary of the evidence for the U.S. Preventive Services Task Force.

    abstract:PURPOSE:Chemoprevention offers promise as a strategy for reducing morbidity and mortality from breast cancer in women. This review examined the evidence for the effectiveness of chemoprevention in women without a history of breast cancer. DATA SOURCES:MEDLINE (1966 to December 2001). STUDY SELECTION:English-language,...

    journal_title:Annals of internal medicine

    pub_type: 杂志文章,评审

    doi:10.7326/0003-4819-137-1-200207020-00017

    authors: Kinsinger LS,Harris R,Woolf SH,Sox HC,Lohr KN

    更新日期:2002-07-02 00:00:00

  • Genotyping for Human Papillomavirus Types 16 and 18 in Women With Minor Cervical Lesions: A Systematic Review and Meta-analysis.

    abstract:Background:High-risk human papillomavirus (hrHPV) testing to triage women with minor cervical lesions generates many referrals. Purpose:To evaluate the accuracy of genotyping for HPV types 16 and 18 and its utility as a second triage step after hrHPV testing in women with minor cervical lesions. Data Sources:Searches...

    journal_title:Annals of internal medicine

    pub_type: 杂志文章,meta分析,评审

    doi:10.7326/M15-2735

    authors: Arbyn M,Xu L,Verdoodt F,Cuzick J,Szarewski A,Belinson JL,Wentzensen N,Gage JC,Khan MJ

    更新日期:2017-01-17 00:00:00

  • Pyelonephritis associated with Legionella pneumophila, serogroup 4.

    abstract::A patient with bladder carcinoma metastatic to lung and brain died of pneumonia. Autopsy examination showed a confluent bronchopneumonia with several small abscesses and acute pyelonephritis with abscess formation. Legionella pneumophila, serogroup 4, was isolated in pure culture from lung tissue postmortem and was al...

    journal_title:Annals of internal medicine

    pub_type: 杂志文章

    doi:10.7326/0003-4819-93-6-835

    authors: Dorman SA,Hardin NJ,Winn WC Jr

    更新日期:1980-12-01 00:00:00

  • Intravenous esomeprazole for prevention of recurrent peptic ulcer bleeding: a randomized trial.

    abstract:BACKGROUND:Use of proton-pump inhibitors in the management of peptic ulcer bleeding is controversial because discrepant results have been reported in different ethnic groups. OBJECTIVE:To determine whether intravenous esomeprazole prevents recurrent peptic ulcer bleeding better than placebo in a multiethnic patient sa...

    journal_title:Annals of internal medicine

    pub_type: 杂志文章,多中心研究,随机对照试验

    doi:10.7326/0003-4819-150-7-200904070-00105

    authors: Sung JJ,Barkun A,Kuipers EJ,Mössner J,Jensen DM,Stuart R,Lau JY,Ahlbom H,Kilhamn J,Lind T,Peptic Ulcer Bleed Study Group.

    更新日期:2009-04-07 00:00:00

  • Community-based urine screening for Chlamydia trachomatis with a ligase chain reaction assay.

    abstract:BACKGROUND:Urine tests for Chlamydia trachomatis permit expansion of screening beyond traditional clinic environments. Prevention of infection in teenagers is a high priority. OBJECTIVE:To define the prevalence of C. trachomatis among teenagers by using the ligase chain reaction assay on urine specimens and to evaluat...

    journal_title:Annals of internal medicine

    pub_type: 杂志文章

    doi:10.7326/0003-4819-127-9-199711010-00004

    authors: Marrazzo JM,White CL,Krekeler B,Celum CL,Lafferty WE,Stamm WE,Handsfield HH

    更新日期:1997-11-01 00:00:00

  • Prospective staging evaluation of patients with cutaneous T-cell lymphomas. Demonstration of a high frequency of extracutaneous dissemination.

    abstract::A prospective pretreatment staging evaluation was done on 49 consecutive patients with mycosis fungoides or the Sézary syndrome to study patterns of disease spread and prognostic factors. Routine staging procedures included complete blood count, blood chemistries, chest roentgenogram, lymphangiogram, radionuclide scan...

    journal_title:Annals of internal medicine

    pub_type: 杂志文章

    doi:10.7326/0003-4819-93-2-223

    authors: Bunn PA Jr,Huberman MS,Whang-Peng J,Schechter GP,Guccion JG,Matthews MJ,Gazdar AF,Dunnick NR,Fischmann AB,Ihde DC,Cohen MH,Fossieck B,Minna JD

    更新日期:1980-08-01 00:00:00

  • The bioavailability of folic acid added to wine.

    abstract::Folate deficiency is a frequent cause of anemia in alcoholics, but little attention has been paid to its prevention. Folic acid was readily soluble in wines of high ethanol content at concentrations of 10 microgram/ml. Lactobacillus casei folate activity of folic acid added to wines was well maintained during a month'...

    journal_title:Annals of internal medicine

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.7326/0003-4819-87-5-542

    authors: Kaunitz JD,Lindenbaum J

    更新日期:1977-11-01 00:00:00

  • NIH conference. Asthma.

    abstract::Asthma is characterized by inflammation, reversible airway obstruction, and increased airway responsiveness to various stimuli. It has received wide public attention in recent years because of increasing morbidity and deaths, particularly among black persons. The important role of inflammation in the immunopathogenesi...

    journal_title:Annals of internal medicine

    pub_type: 共识发展会议,杂志文章,评审

    doi:10.7326/0003-4819-121-9-199411010-00011

    authors: Goldstein RA,Paul WE,Metcalfe DD,Busse WW,Reece ER

    更新日期:1994-11-01 00:00:00

  • Residual venous thrombosis as a predictive factor of recurrent venous thromboembolism.

    abstract:BACKGROUND:The optimum duration of anticoagulant therapy after an episode of deep venous thrombosis (DVT) is controversial. Contributing to the controversy is uncertainty about whether residual venous thrombosis, as assessed by repeated ultrasonography over time, increases the risk for recurrent thromboembolism. OBJEC...

    journal_title:Annals of internal medicine

    pub_type: 杂志文章

    doi:10.7326/0003-4819-137-12-200212170-00008

    authors: Prandoni P,Lensing AW,Prins MH,Bernardi E,Marchiori A,Bagatella P,Frulla M,Mosena L,Tormene D,Piccioli A,Simioni P,Girolami A

    更新日期:2002-12-17 00:00:00

  • The long-term therapeutic management of epilepsy.

    abstract:OBJECTIVE:To provide a rational strategy for the evaluation and long-term management of epilepsy. DATA SOURCES:Articles written between 1964 and 1993, obtained from a MEDLINE search on epilepsy-related topics as well as from the author's personal files, major reference books on antiepileptic drugs, and references iden...

    journal_title:Annals of internal medicine

    pub_type: 杂志文章,评审

    doi:10.7326/0003-4819-120-5-199403010-00010

    authors: French J

    更新日期:1994-03-01 00:00:00

  • Hypernatremia in elderly patients. A heterogeneous, morbid, and iatrogenic entity.

    abstract::The causes, therapy for, and consequences of hypernatremia in elderly patients are not well understood. We found that in 15,187 consecutive hospital admissions, 162 (1.1%) patients who were at least 60 years of age had serum sodium levels that measured greater than 148 meq/L. Of that 162, 57% had become hypernatremic ...

    journal_title:Annals of internal medicine

    pub_type: 杂志文章

    doi:10.7326/0003-4819-107-2-309

    authors: Snyder NA,Feigal DW,Arieff AI

    更新日期:1987-09-01 00:00:00