[Cytogenetic and molecular profile of genetic diseases in Puerto Montt main hospital].

Abstract:

BACKGROUND:Chromosome aberrations (CA) are the main etiology of multiple congenital malformations, recurrent abortions and intellectual disability (ID) specifically of moderate and severe degree. They account for 0.3 to 1% of newborns (NB) and 6 of 10,000 NB have chromosome imbalances with submicroscopic deletions or duplications smaller than 10 MB that are overlooked by conventional cytogenetic studies. AIM:To report the results of cytogenetic and molecular studies performed in patients with a congenital malformation disease or ID with or without dysmorphic features, attended in a regional hospital. PATIENTS AND METHODS:One hundred and eighty patients, 27 with a clinical diagnosis of Down syndrome, derived for the suspicion of a genetic disease, were studied. A karyogram was performed in all of them and in 30 cases additional molecular studies, such as fluorescence in situ hybridization (FISH) or polymerase chain reaction (PCR) were carried out. RESULTS:Among the 153 patients without Down syndrome, 20 (13%) had a genetic abnormality responsible for the altered phenotype. Sixteen had a chromosome aberration (structural and numerical aberrations in 75 and 25% respectively) and four had genetic molecular alterations. Additional studies were performed to confirm or better characterize the chromosome aberration in 13 of the 30 patients in whom these were requested. CONCLUSIONS:Chromosome and specific genetic molecular studies in selected cases help to characterize patients with genetic diseases. The collaboration between academic and health care facilities is crucial.

journal_name

Rev Med Chil

journal_title

Revista medica de Chile

authors

Alliende MA,Curotto B,Guerra P,Santa María L,Hermosilla R,Orphanópoulos D,Villanueva J,Wettig E,Barraza X

doi

/S0034-98872011000300003

subject

Has Abstract

pub_date

2011-03-01 00:00:00

pages

298-305

issue

3

eissn

0034-9887

issn

0717-6163

pii

S0034-98872011000300003

journal_volume

139

pub_type

杂志文章
  • [Treatment of Hodgkin's disease. National Protocol of Antineoplastic Drugs: preliminary report].

    abstract::We report preliminary results of treatment of Hodgkin disease according to the National Protocol on Antineoplastic Drugs. 37 males and 22 females with a median age of 34 years (range 16 to 76) were treated. Patients with stages I or II received radiotherapy alone or chemotherapy (C-MOPP) followed by radiotherapy. Pati...

    journal_title:Revista medica de Chile

    pub_type: 杂志文章

    doi:

    authors: Gutiérrez J,Osorio G,García H,Vacarezza R,Cao C

    更新日期:1991-01-01 00:00:00

  • [Brown tumors in multiple locations: manifestation of severe renal osteodystrophy. Case report].

    abstract::We report a 25 years old woman with a four years history of end stage renal disease on hemodialysis. During the last two years of follow up, multiple tender nodules appeared in the left clavicle and ribs. These were diagnosed as brown tumors, secondary to osteitis fibrosa cystica, in the context of a secondary hyperpa...

    journal_title:Revista medica de Chile

    pub_type: 杂志文章

    doi:

    authors: Gómez MC,Riquelme P,Sirandoni G,Sapunar J,Princic E,Lee B

    更新日期:2003-10-01 00:00:00

  • [Pet cats, medicine and art].

    abstract::The author in this short text remembers the passing of a beloved pet cat. Cats are beautiful animals and wonderful companions. They evolved together with humans in Africa, subsequently spread over the five continents with them, and became the subject of many human cultural activities, including art, poetry and religio...

    journal_title:Revista medica de Chile

    pub_type: 杂志文章

    doi:10.4067/S0034-98872019000100091

    authors: Cabello C F

    更新日期:2019-01-01 00:00:00

  • [Use of platelet rich plasma in knee ligament surgery].

    abstract::Platelet Rich Plasma (PRP) is used in musculoskeletal lesion surgery, including muscle, bone, tendons and ligaments. PRP might accelerate the healing process and the integration of the graft, allowing an earlier return to sports activities of patients. PRP is obtained from autologous blood, which is centrifuged, obtai...

    journal_title:Revista medica de Chile

    pub_type: 杂志文章,评审

    doi:10.4067/S0034-98872013001000011

    authors: Figueroa P D,Figueroa B F,Ahumada P X,Calvo R R,Vaisman B A

    更新日期:2013-10-01 00:00:00

  • [Characteristics and results of breast cancer in elderly females treated with curative intent].

    abstract:BACKGROUND:Aging is the main risk factor to acquire breast cancer (BC). Nevertheless BC in elderly patients is sub-represented in clinical trials. AIM:To describe the clinical characteristics and long term treatment results of localized BC in older women. MATERIAL AND METHODS:Review of medical records of 65 women age...

    journal_title:Revista medica de Chile

    pub_type: 杂志文章

    doi:10.4067/S0034-98872013001200006

    authors: Sánchez R C,Bakal I F,Camus A M,Besa de C P

    更新日期:2013-12-01 00:00:00

  • [Application of a system of serological surveillance of Chagas disease in a region of high chagasic endemia. I. Prevalence of Trypanosoma cruzi infection in Salamanca].

    abstract::A serologic study for prevalence of Chagas infection was performed in Salamanca, Northern Chile. Indirect immunofluorescence and indirect hemagglutination reactions were used in samples from 1529 females and 698 males representing 10% of the population. A total of 499 positive results were obtained. The incidence of i...

    journal_title:Revista medica de Chile

    pub_type: 杂志文章

    doi:

    authors: Lorca M,Reyes V,Muñoz P,Tassara R,Canales M,Mercado R,Atías A

    更新日期:1991-04-01 00:00:00

  • [Cervical polyadenopathy due to Kikuchi and Fujimoto disease].

    abstract::Kikuchi and Fujimoto disease is a benign subacute necrotizing lymphadenitis, probably associated to a viral infection, that affects mostly young Asian women. We report a 19 years old women, with a vast familiar history of thyroid disease (three uncles with papillary thyroid carcinoma and one with a Hashimoto thyroidit...

    journal_title:Revista medica de Chile

    pub_type: 杂志文章

    doi:

    authors: López JM,Alvarez M,Cárdenas IE,Gallegos M

    更新日期:1997-03-01 00:00:00

  • [Current management strategies for pulmonary hypertension in surgical patients].

    abstract::Pulmonary hypertension is a clinical condition with a low prevalence, but carries high morbidity and mortality. Important advances in the understanding of this disease and in its therapy have occurred. A particular scenario is pulmonary hypertension in patients undergoing non-cardiac as well as cardiac surgery. The ai...

    journal_title:Revista medica de Chile

    pub_type: 杂志文章,评审

    doi:/S0034-98872010000400016

    authors: Fermandois C M,López B R,León S P,Lema F G

    更新日期:2010-04-01 00:00:00

  • [Long-term follow-up of non-operated patients with symptomatic and asymptomatic cholelithiasis].

    abstract:BACKGROUND:In Chile, cholelithiasis is a serious public health problem and there are no studies about its natural history. AIM:To assess the long term evolution of patients with symptomatic and asymptomatic cholelithiasis. PATIENTS AND METHODS:Ninety two patients with cholelithiasis (57 female), aged 15 to 80 years o...

    journal_title:Revista medica de Chile

    pub_type: 杂志文章

    doi:

    authors: Csendes A,Csendes P,Burdiles P

    更新日期:1996-10-01 00:00:00

  • [Obesity as a risk factor for complications during acute respiratory infections in children].

    abstract::Obesity has a high prevalence among children. On the other hand, acute respiratory infections especially of viral origin, are an important cause of morbidity and mortality in this age group. During the recent pandemic of influenza A (H1N1) virus, obesity was identified as a novel independent risk factor for severity m...

    journal_title:Revista medica de Chile

    pub_type: 杂志文章,评审

    doi:10.4067/S0034-98872016000900012

    authors: Fuenzalida L,García-Díaz DF

    更新日期:2016-09-01 00:00:00

  • [Evolution of internal medicine and its specialties in the last decades: an outward view].

    abstract::The development of the subspecialties of internal medicine in the western world is reviewed from a historical perspective, focusing on the case of the United States of America. During the last decades, changes both in society and in medicine as a whole have prompted a great dispersion of medical practice styles, not a...

    journal_title:Revista medica de Chile

    pub_type: 历史文章,杂志文章

    doi:

    authors: Rosselot E

    更新日期:1996-04-01 00:00:00

  • [Correlation between CA-125 marker with the presence and severity of pelvic endometriosis].

    abstract:BACKGROUND:Endometriosis affects at least 15% of infertile women. The diagnosis is made by direct visualization of implants either at laparoscopy or laparotomy. Elevation of plasma CA-125 levels has been associated with the presence of endometriosis. AIM:To search for a correlation between CA-125 and the presence of e...

    journal_title:Revista medica de Chile

    pub_type: 杂志文章

    doi:

    authors: Bianchi M,Macaya R,Durruty G,Manzur A

    更新日期:2003-04-01 00:00:00

  • [Multisystemic involvement in obstructive sleep apnea].

    abstract::Obstructive Sleep Apnea (OSA) is characterized by repetitive upper airway collapse with apnea/hypopnea and recurrent hypoxia during sleep, which results in fragmented sleep and intermittent drops in arterial blood oxygen saturation (hypoxemia). Several dysfunctions of neurocognitive, endocrine, cardiovascular, and met...

    journal_title:Revista medica de Chile

    pub_type: 杂志文章,评审

    doi:10.4067/S0034-98872014000600009

    authors: Labarca G,Cruz N R,Descalzi F

    更新日期:2014-06-01 00:00:00

  • [Spontaneous bacterial peritonitis: a frequent and recurrent complication in cirrhotic patients with ascites].

    abstract::One hundred and twenty consecutive patients with liver cirrhosis and ascites were prospectively studied in order to analyze the frequency, clinical and bacteriological features, recurrence, and prognosis of spontaneous bacterial peritonitis (SBP). Two variants of SBP were defined: culture positive SBP and culture nega...

    journal_title:Revista medica de Chile

    pub_type: 杂志文章

    doi:

    authors: Chesta J,Brahm J,Poniachik J,Latorre R,Hurtado C,Novoa X,Velasco M

    更新日期:1991-03-01 00:00:00

  • [Hearing loss as a risk factor for dementia].

    abstract::In the last decades, there has been an increase in life expectancy in the world, with the consequent modification in the proportion of adults over 60 years. This is accompanied by an increase in pathologies for which aging is the main risk factor, such as dementia and hearing loss, which profoundly affect the quality ...

    journal_title:Revista medica de Chile

    pub_type: 杂志文章,评审

    doi:10.4067/S0034-98872020000801128

    authors: Wimmer Del Solar J,Delgado C,Torrente MC,Délano PH

    更新日期:2020-08-01 00:00:00

  • [Liver cirrhosis and portal hypertension: non-invasive measurement of blood flow in the portal vein with Doppler-duplex].

    abstract::Doppler-duplex has been widely used to quantify blood flow. Nevertheless, its usefulness in assessing portal vein flow (PVF) has been questioned due to technical problems: vessel cross sectional area measurements, interobserver variability, and PVF changes related to physiological events. This study was aimed to measu...

    journal_title:Revista medica de Chile

    pub_type: 杂志文章

    doi:

    authors: Fernández M,Chesta J,Jirón MI,Mánquez P,Brahm J

    更新日期:1991-05-01 00:00:00

  • [Serous peritoneal papillary tumor of low malignancy potential. Report of a case].

    abstract::Papillary serous carcinoma with low malignant potential, similar to those described in the ovary, can also originate in the peritoneum. Characteristically they show peritoneal spread without involvement of the ovary and, if present, it corresponds to a superficial implant similar to those seen in the rest of the perit...

    journal_title:Revista medica de Chile

    pub_type: 杂志文章

    doi:

    authors: Mayerson D,Rondini C,Braun H,Chuaqui R,Brañes J

    更新日期:2000-02-01 00:00:00

  • [Automatic keyword retrieval from clinical texts: an application of natural language processing to massive data of Chilean suspected diagnosis].

    abstract:BACKGROUND:Free-text imposes a challenge in health data analysis since the lack of structure makes the extraction and integration of information difficult, particularly in the case of massive data. An appropriate machine-interpretation of electronic health records in Chile can unleash knowledge contained in large volum...

    journal_title:Revista medica de Chile

    pub_type: 杂志文章

    doi:10.4067/s0034-98872019001001229

    authors: Villena F,Dunstan J

    更新日期:2019-10-01 00:00:00

  • [Bone metastases of a gallbladder carcinoma detected by positron emission tomography/computed tomography: Case report].

    abstract::Signet ring gallbladder carcinoma is a rare aggressive variant of mucinous adenocarcinoma with poor prognosis. Positron emission tomography/computed tomography (PET/CT) with Fluor18 deoxyglucose (F18-FDG) is a useful tool in the staging of gallbladder cancer. We report a 68 years old man with a surgically resected acu...

    journal_title:Revista medica de Chile

    pub_type:

    doi:10.4067/S0034-98872017000400013

    authors: Humeres P,González P,González J,Prado E,Hiplan E

    更新日期:2017-04-01 00:00:00

  • [Medical leave in hospital personnel].

    abstract::We investigated medical leaves of personnel at Temuco's hospital from 1986 to 1987. 57% of persons had at least one leave and 54% of these had 2 or more leaves. Women and paramedicals had more medical leaves. Most absences occurred in june, july, august (p less than 0.01). Most leaves were caused by respiratory diseas...

    journal_title:Revista medica de Chile

    pub_type: 杂志文章

    doi:

    authors: Silva CG,Baechler R

    更新日期:1989-07-01 00:00:00

  • [Prevalence of biological and psychological symptoms in perimenopausal women from different socioeconomic levels in the city of Temuco].

    abstract:BACKGROUND:Psychological and biological symptoms occur in the perimenopausal period. However the real prevalence of these, is not well known in Chile. AIM:To determine the prevalence of biological and psychological symptoms and self care sexual health practices of perimenopausal women of Temuco, Chile. PATIENTS AND M...

    journal_title:Revista medica de Chile

    pub_type: 杂志文章

    doi:

    authors: Lagos X,Navarro N,Illanes E,Bustos L

    更新日期:1998-10-01 00:00:00

  • [Thyroid stimulating hormone reference values derived from the 2009-2010 Chilean National Health Survey].

    abstract:BACKGROUND:The determination of thyroid stimulating hormone (TSH) reference values is critical for the diagnosis of thyroid diseases. AIM:To explore and discuss different definitions to establish TSH reference values using a Chilean national survey sample. MATERIAL AND METHODS:The 2009-2010 Chilean National Health Su...

    journal_title:Revista medica de Chile

    pub_type: 杂志文章

    doi:10.4067/S0034-98872013000100013

    authors: Mosso L,Margozzini P,Trejo P,Domínguez A,Solari S,Valdivia G,Arteaga E

    更新日期:2013-01-01 00:00:00

  • [Hemoglobin, serum iron and transferrin saturation among users of intrauterine devices and oral contraceptive agents].

    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:

    authors: Palomo I,Grebe G,Valladares G,Bustos P,Ferrada M

    更新日期:1990-05-01 00:00:00

  • [Synchronous tumors detected with contrast-enhanced F18-FDG positron emission tomography/computed tomography (PET/CTc) in colorectal cancer].

    abstract:BACKGROUND:Colorectal cancer (CRC) is the third most prevalent cancer in the world and is the second cause of cancer death. Positron emission tomography/computed tomography (PET/CT) using 18F-FDG is used for its staging and follow up. AIM:To assess the occurrence of synchronous colonic and extracolonic tumors detected...

    journal_title:Revista medica de Chile

    pub_type: 杂志文章

    doi:10.4067/S0034-98872019000700828

    authors: Ladrón-de-Guevara D,Pérez D,Núñez P,Ramírez F,Zárate A,López F

    更新日期:2019-07-01 00:00:00

  • [Immunophenotyping of peripheral blood lymphocytes from Chilean chronic chagasic patients by flow cytometry].

    abstract:BACKGROUND:Cellular immune mechanisms of the resistance to infection by T cruzi as well as the pathogenesis of Chagas disease are still controversial. AIM:To quantify and analyse the peripheral blood immune cells from chagasic and non chagasic patients by flow cytometry. PATIENTS AND METHODS:Peripheral blood samples ...

    journal_title:Revista medica de Chile

    pub_type: 杂志文章

    doi:

    authors: Sánchez G,Zulantay I,Gajardo M,Venegas J,Villanueva R,Pérez A,Liendo F,Apt W,Solari A

    更新日期:2002-04-01 00:00:00

  • Smoking promotes exacerbated inflammatory features in dendritic cells of Chilean rheumatoid arthritis patients.

    abstract:BACKGROUND:The dual potential to promote tolerance or inflammation when facing self-antigens makes dendritic cells (DCs) fundamental players in autoimmunity. There is an association between smoking and DCs maturation in patients with rheumatoid arthritis (RA). However, ethnicity is a key factor in autoimmune disorders....

    journal_title:Revista medica de Chile

    pub_type: 杂志文章

    doi:10.4067/s0034-98872018000200150

    authors: Prado C,Iruretagoyena M,Burgos PI,Pacheco R

    更新日期:2018-02-01 00:00:00

  • [Predictive value of the ergometric test stress parameters for myocardial ischemia according to SPECT thallium-201 scintigraphy].

    abstract:BACKGROUND:Exercise EKG is used as the test of choice in the diagnosis of coronary artery disease. Classical parameters are angor and ST depression representing myocardial ischemia. AIM:To correlate exercise EKG parameters with SPECT 201Thallium to know their likelihood ratios for ischemia. PATIENTS AND METHODS:Two h...

    journal_title:Revista medica de Chile

    pub_type: 杂志文章

    doi:

    authors: Prat H,Massardo T,Jofré J,Vargas J,González P

    更新日期:1998-05-01 00:00:00

  • [Olfactory sensory perception].

    abstract::The five senses have had a fundamental importance for survival and socialization of human beings. From an evolutionary point of view the sense of smell is the oldest. This sense has a strong representation within the genome, allowing the existence of many types of receptors that allow us to capture multiple volatile o...

    journal_title:Revista medica de Chile

    pub_type: 杂志文章,评审

    doi:/S0034-98872011000300013

    authors: Fuentes A,Fresno MJ,Santander H,Valenzuela S,Gutiérrez MF,Miralles R

    更新日期:2011-03-01 00:00:00

  • [Immunophenotype. Clinical and laboratory features of acute lymphoblastic leukemia in Chile. Study of 500 children and 131 adults].

    abstract::We describe the clinical features and immunophenotype of 500 children and 131 adults with acute lymphoblastic leukemia (ALL), diagnosed between 1984 and 1993. Cases were classified, according to immunophenotype in B-cell ALL with three subtypes (pro-B or null, common and B) and T-cell ALL. Among children, common ALL a...

    journal_title:Revista medica de Chile

    pub_type: 杂志文章

    doi:

    authors: Cabrera ME,Labra S,Ugarte S,Matutes E,Greaves MF

    更新日期:1996-03-01 00:00:00

  • [Rapid identification of non tuberculous mycobacteria by restriction pattern analysis].

    abstract:BACKGROUND:The frequency of diseases caused by non tuberculous mycobacteria has increased in the last years. Their clinical diagnosis is difficult, mainly in immunocompromised patients. The identification of these mycobacteria by traditional methods is based on phenotypic characteristics and the results are obtained tw...

    journal_title:Revista medica de Chile

    pub_type: 杂志文章

    doi:10.4067/s0034-98872006000700010

    authors: Araya R P,Velasco R M,Fernández O J

    更新日期:2006-07-01 00:00:00