Abstract:
BACKGROUND:Wiskott-Aldrich syndrome (WAS) is an X linked congenital disease that presents as eczema, thrombocytopenia and immune deficiency. The only curative procedure for this illness is hematopoietic stem cell transplant (HSCT), preferably from a healthy HLA identical sibling donor. Cord blood is becoming an excellent alternative as stem cell source from unrelated donors. AIM:To report our experience with HSCT in children with WAS. PATIENTS AND METHODS:Six boys with WAS diagnosed at 1 to 6 months of age were transplanted at our institution. All of them developed eczema and thrombocytopenia. Two had episodes of severe bleeding and three had repetitive infections (two with recurrent pulmonary infections and one a recurrent otitis). Three patients had a positive family history. Two received HSCT from sibling donors and four from unrelated cord blood donors at 7 months to 4 years of age. RESULTS:AH 6 patients had full hematopoietic engraftment after transplantation. Three had mild chronic graft-versus- host disease which responded to immune suppressive therapy. One patient died of cytomegalovirus related pneumonia 111 days after grafting. The other 5 patients are alive and healthy 11 to 104 months after transplantation. CONCLUSIONS:HSCT is an effective treatment for patients with WAS. The procedure should be done as soon as diagnosis is confirmed and before life threatening infections occur.
journal_name
Rev Med Chiljournal_title
Revista medica de Chileauthors
Wietstruck P MA,Zúñiga C P,Talesnik G E,Méndez R C,Barriga C Fdoi
10.4067/s0034-98872007000700013subject
Has Abstractpub_date
2007-07-01 00:00:00pages
917-23issue
7eissn
0034-9887issn
0717-6163pii
S0034-98872007000700013journal_volume
135pub_type
杂志文章abstract:BACKGROUND:Attention deficit/hyperactivity disorder (ADHD) is a common, highly heritable neurobiological disorder of childhood onset, characterized by hyperactivity, impulsiveness or inattentiveness. AIM:To search for differences in risk for ADHD and its components among Chilean native and mixed populations and to loo...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:/S0034-98872011000500006
更新日期:2011-05-01 00:00:00
abstract::DSM-5 is a significant factor in promoting the "remedicalization" of psychiatry as the focus of psychiatric knowledge, developed by the evidence-based medicine movement, shifted from the clinically-based biopsychosocial model to a research-based medical model. DSM-5 purposes are 1]clinical: diagnosis, prevention, earl...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:10.4067/S0034-98872019000400475
更新日期:2019-04-01 00:00:00
abstract::We report the case of a woman with rapidly progressive IgA nephropathy. She was treated with pulse methylprednisolone sodium succinate (1 g/d for three days), cyclophosphamide, dipyridamole and aspirin. The rapid progression of renal failure was apparently halted after 6 months. ...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:1989-10-01 00:00:00
abstract::An increased life expectancy is associated to a nation's progress. Life expectancy at birth is 78 years in developed countries, 72 in Latin America, 70 in China, 63 in Eastern Europe and 51 in Africa. Chile is the Latin American country with the higher increment in life expectancy, reaching 75 years at birth, during t...
journal_title:Revista medica de Chile
pub_type: 社论
doi:
更新日期:1999-06-01 00:00:00
abstract::We studied 60 females using either intrauterine device or taking oral contraceptive pills. Hemoglobin, serum iron, total iron binding capacity and saturation of transferrin were determined before and 4 and 10 months after starting a responsible paternity program. Women with a basal hemoglobin level below 12 g/dl were ...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:1990-05-01 00:00:00
abstract:BACKGROUND:Non cardiac chest pain can be caused by esophageal problems such as gastroesophageal reflux or smooth muscle motor disorders. AIM:To perform esophageal manometry in patients with non cardiac chest pain. MATERIAL AND METHODS:One hundred patients with chest pain in whom coronary problems were discarded, were...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:10.4067/s0034-98872006000300004
更新日期:2006-03-01 00:00:00
abstract:BACKGROUND:Several genetic polymorphisms of adiponectin have been associated to metabolic diseases as obesity and co-morbidities. AIM:To investigate if there are associations between +45TG, +276GT, -11,377CG y -11,391GA adiponectin SNPs (single nucleotide polymorphism) with obesity in a Chilean children population. M...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:10.4067/S0034-98872012001000002
更新日期:2012-10-01 00:00:00
abstract:BACKGROUND:Microtia is a congenital defect characterized by disturbances in the size and form of the ear lobe. Anotia corresponds to the absence of the ear lobe. AIM:To study the prevalence of microtia and anotia at the Maternity of the University of Chile Clinical Hospital. MATERIAL AND METHODS:Analysis of the datab...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:10.4067/s0034-98872006001000012
更新日期:2006-10-01 00:00:00
abstract:BACKGROUND:Toxic epidemial necrolysis (TEN) is an acute adverse drug reaction, that has an unpredictableprogression and a 30% mortality. The incidence of TEN in the general population is approximately 0.4 to 1.2 cases/million/year. It is characterized pathologically by keratinocyte apoptosis which leads to epidemial de...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:/S0034-98872009000300009
更新日期:2009-03-01 00:00:00
abstract::An analysis of the interaction of evolutionary factors such as migration, mutation, selection random drift, and consanguinity upon the genome of Easter islanders is attempted. As many primitive populations, the Easter islanders genome has at least 2/3 of genetic loci in an isogenic state. The HLA system is reduced; ot...
journal_title:Revista medica de Chile
pub_type: 杂志文章,评审
doi:
更新日期:1989-06-01 00:00:00
abstract::We analyzed 33 patients with recurring nodular goiter (from a population of 2,500 operated patients). Recurrence occurred 0.7 to 12 years after surgery. T4, T3, TSH, perchlorate and TRH tests were performed in 18. Results were similar to those in 13 operated patients without recurrence. Administration of thyroid hormo...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:1990-01-01 00:00:00
abstract:BACKGROUND:There is phenotypic and genetic variability among the species Borrelia burgdorferi that produces Lyme disease. Three gene species and seven serotypes have been defined. AIM:To study the efficacy of two gene species in the serological diagnosis of Borrelia burgdorferi infections in Granada, Spain. MATERIAL ...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:1998-06-01 00:00:00
abstract::The history, objectives and aims of this programme are described in detail. The principal goals achieved on anticonception, reproductive biology and abortion are analyzed, with special reference to the research done in Chile. The strengthening of research capabilities at national level was pointed out with special men...
journal_title:Revista medica de Chile
pub_type: 历史文章,杂志文章
doi:
更新日期:1998-07-01 00:00:00
abstract::One of the main challenges in environmental management is to prevent the public health impact of projects that can cause pollution. To tackle this problem, the new Chilean bill on environmental management has defined the need to determine the potential health risks of a given Project. This paper gives a summary of the...
journal_title:Revista medica de Chile
pub_type: 杂志文章,评审
doi:/S0034-98872011000800015
更新日期:2011-08-01 00:00:00
abstract::The aim of this work was to assess the degree of interaction between diethylpropion and some cellulosic derivatives widely used in anorexigenic prescriptions. Our in vitro results show that sodium carboxymethylcellulose and methylcellulose cause a significant degradation of diethylpropion, the first having a greater e...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:1993-09-01 00:00:00
abstract:BACKGROUND:Although endemic goiter is an easily controlled chronic disease, it continues to be a serious global public health problem. AIM:To study iodine nutrition in school age children from different areas of Chile. SUBJECTS AND METHODS:Thyroid gland was palpated in 4181 school age children from Calama, Santiago, ...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:1997-11-01 00:00:00
abstract::A consensus meeting held by the Chilean Endocrinological Society reached to 22 consensus proposals on the use of iodine-131 in hyperthyroidism and thyroid cancer, that are reported in this paper. Some of these propositions are: 1) Hyperthyroidism: A previous 131I uptake test must be performed. A calculated or an ablat...
journal_title:Revista medica de Chile
pub_type: 共识发展会议,杂志文章,评审
doi:
更新日期:1998-07-01 00:00:00
abstract:BACKGROUND:Endobronchial ultrasound-guided trans-bronchial needle aspiration (EBUS-TBNA) is a minimally invasive procedure with a high diagnostic yield for lesions adjacent to the central airway. AIM:To describe the diagnostic yield of EBUS-TBNA for lesions suspicious of Non-Small Cell Lung Cancer (NSCLC). MATERIAL A...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:10.4067/S0034-98872016000300009
更新日期:2016-03-01 00:00:00
abstract::Recently, several groups have studied the influence of possible noxious elements present in the intrauterine environment which may favor the development of several diseases in the adult. There is evidence of an increased prevalence of some disorders in special risk groups of fetuses. In the small for gestational age p...
journal_title:Revista medica de Chile
pub_type: 杂志文章,评审
doi:
更新日期:2001-03-01 00:00:00
abstract::We report a 56 years old male patient presenting with a sympathetic denervation of the right upper limb due to an apical lung cancer. Vasomotor paralysis of the limb was objectively documented with a contact termography. The clinical presentation of this patient was unusual, considering that the alteration occurred wi...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:1995-05-01 00:00:00
abstract::Between June 1983 and September 1987, 2799 disability pensions were given in the East Santiago Area, population 676,269. Of them, 222 (7.9%) were due to ophthalmological causes. Blindness as defined by the WHO was present in 57 cases. It was caused by myopia (33%), glaucoma (21%), diabetic retinopathy (9.8%), retinal ...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:1991-05-01 00:00:00
abstract::We report a family with three generations affected by an autosomal dominant centronuclear palsy. This gene is characterized by ptosis that begins in childhood and a slowly progressive weakness that starts in the second decade of life, involving face, neck and limbs. In this stage, muscle pan associated to exercise or ...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:1996-02-01 00:00:00
abstract::This is a comparative review of sick leave and wage replacement policies among countries of the Organization for Economic Co-operation and Development (EOCD), an organism that Chile joined recently. This review also deals with the main transformations applied to the system to improve its effciency and the variables th...
journal_title:Revista medica de Chile
pub_type: 杂志文章,评审
doi:/S0034-98872011000400013
更新日期:2011-04-01 00:00:00
abstract::We report two female patients with adult respiratory distress syndrome and severe respiratory failure in whom extracorporeal membrane oxygenation was used. Its indication was due to a bad response to conventional treatment with mechanical ventilation and high levels of positive end expiratory pressure. A 2.0 or 2.2 m2...
journal_title:Revista medica de Chile
pub_type: 杂志文章,评审
doi:
更新日期:1995-10-01 00:00:00
abstract::Three patients seen at the Medicine Department of Del Salvador Hospital between 1986 and 1990 are reported. All had a history of purulent or bloody nasal discharge and recurrent sinusitis, before the appearance of progressive and painful destructive phenomena that affected the rhino faucial region. The diagnosis was m...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:1992-11-01 00:00:00
abstract:AIM:To compare the efficacy of imipenem/cilastatine and ceftazidime-amikacin in the treatment of febrile neutropenic patients. DESIGN:Open, prospective and randomized clinical study. PATIENTS:Fifty two patients (26 female) aged 16 to 80 years old with 60 episodes of neutropenia were studied. They were randomly assign...
journal_title:Revista medica de Chile
pub_type: 临床试验,杂志文章,随机对照试验
doi:
更新日期:1995-03-01 00:00:00
abstract::In the context of a festschrift to commemorate the 125th anniversary of the Revista Médica de Chile, "radiography" of the journal has been depicted using several scientometric indicators. Among the mainstream journals in the category of Medicine, General & Internal and taking into account the wide editorial coverage a...
journal_title:Revista medica de Chile
pub_type: 历史文章,杂志文章
doi:
更新日期:1997-07-01 00:00:00
abstract::We report a 65 years old female undergoing hemodialysis, presenting with intense pain in the lower right quadrant and moderate hematochezia. Since symptoms did not abate after an appendectomy, a colonoscopy and barium enema were performed, whose results suggested an advanced cecal carcinoma. Biopsies were negative for...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:1999-05-01 00:00:00
abstract::This is the speech pronounced by Dr Abraham Horwitz, Emeritus Professor of the University of Chile and Honorary Director of PAHO, during the academic act that celebrated the fiftieth anniversary of the Chilean Public Health School endowment. The school had a doctrinal and technical impact on Chilean health and decisiv...
journal_title:Revista medica de Chile
pub_type: 历史文章,杂志文章
doi:
更新日期:1994-09-01 00:00:00
abstract:BACKGROUND:Professional Social Responsibility is now imperative for the practice of medicine. However, there are no instruments to assess it among physicians. AIM:To construct and evaluate the factorial structure and reliability of a questionnaire designed to measure socially responsible behavior in physicians. MATER...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:10.4067/S0034-98872014000100014
更新日期:2014-01-01 00:00:00