Linfoma de Hodgkin con compromiso hepático tratado con esquema gemcitabina, dexametasona y cisplatino como puente para terapia estándar: Caso clínico / Hodgkin lymphoma with hepatic involvement treated with dexametasone, gemcitabine and cisplatin as a bridge to standard therapy: Report of one case

Background: The initial presentation of Hodgkin lymphoma with liver involvement is rare. In these patients, the standard first-line therapy with ABVD (Adriamycin, Bleomycine, Vinblastine, Dacarbazine) imply an additional risk for liver toxicity. We report a 64-year-old woman who presented with jaundice, choluria, malaise and weight loss. In the initial evaluation she had jaundice and palpable groin lymph nodes. An obstructive biliary disease was ruled out with magnetic resonance imaging studies. A lymph node biopsy showed a Hodgkins lymphoma, Mixed-cellularity subtype. Considering the liver dysfunction, an alternative scheme of chemotherapy with dexamethasone, gemcitabine and cisplatin (GDP) was administered. After 4 cycles, a significant improvement in liver hepatic function tests was reached and a conventional chemotherapy (ABVD) was begun. While the literature provides some low toxicity protocols for patients with liver involvement, favorable results of our clinical case report allows us to postulate GDP as an alternative for salvage therapy in these patients.

[Hodgkin lymphoma with hepatic involvement treated with dexametasone, gemcitabine and cisplatin as a bridge to standard therapy: report of one case]. / Linfoma de Hodgkin con compromiso hepático tratado con esquema gemcitabina, dexametasona y cisplatino como puente para terapia estándar: Caso clínico.

The initial presentation of Hodgkin lymphoma with liver involvement is rare. In these patients, the standard first-line therapy with ABVD (Adriamycin, Bleomycine, Vinblastine, Dacarbazine) imply an additional risk for liver toxicity. We report a 64-year-old woman who presented with jaundice, choluria, malaise and weight loss. In the initial evaluation she had jaundice and palpable groin lymph nodes. An obstructive biliary disease was ruled out with magnetic resonance imaging studies. A lymph node biopsy showed a Hodgkins lymphoma, Mixed-cellularity subtype. Considering the liver dysfunction, an alternative scheme of chemotherapy with dexamethasone, gemcitabine and cisplatin (GDP) was administered. After 4 cycles, a significant improvement in liver hepatic function tests was reached and a conventional chemotherapy (ABVD) was begun. While the literature provides some low toxicity protocols for patients with liver involvement, favorable results of our clinical case report allows us to postulate GDP as an alternative for salvage therapy in these patients.

Linfoma de Hodkin en Chile: Experiencia de 15 años del Programa Nacional de Cáncer del Adulto / Hodgkin lymphoma in Chile: Experience of the national adult cancer program

Background: Hodgkin lymphoma is a highly curable disease. Aim: To evaluate the clinical characteristics and the treatment results of Hodgkin lymphoma patients of the National Cancer Program in Chile. Patients and methods: Prospective assessment of 682 patients treated in 18 adult cancer centers. Progression free survival (PFS) and overall survival (OS) were calculated. Median follow up was 127, 95, 87, 72 and 50 months for C-MOPP, radiotherapy (RT), C-MOPP/ABV, NOVP and ABVD, respectively. Results: Median age was 37 years (15-84). Nodular sclerosis and mixed cellularity were equally expressed. Advanced stages (III & IV) were present at diagnosis in 61 percent of cases. Age over 40 was an adverse prognostic factor (p <0.001). The rate of PFS at 5 and 10 years for early stages was 73 percent and 66 percent with RT, 80 percent and 74 percent with C-MOPP+RT, 73 percent and 71 percent with C-MOPP/ABV, 59 percent and 59 percent with NOVP+RT, and 81 percent with ABVD+RT, at 5 years, being significantly lower for NOVP (p =0.02). The rate of OS at 5 and 10 years for advanced stages was 82 percent and 70 percent with RT, 82 percent and 76 percent with C-MOPP+RT, 82 percent and 80 percent with C-MOPP/ABV, 68 percent and 60 percent with NOVP, and 85 percent with ABVD at 5 years, also significantly lower for NOVP (p =0.04). For advanced stages, the rate of PFS at 5 and 10 years was 49 percent and 43 percent with C-MOPP, 69 percent and 62 percent with C-MOPP/ABVD or C-MOPP/ABV, and 71 percent at 5 years with ABVD, significantly lower for C-MOPP (p =0.01). The rate of OS at 5 and 10 years was 52 percent and 46 percent with C-MOPP, 70 percent and 63 percent with C-MOPP/ABVD or C-MOPP/ABV and 76 percent with ABVD at 5 years, significantly lower for C-MOPP (p =0.0002). Conclusions: Age over 40 years was an adverse prognostic factor. C-MOPP/ABVD, C-MOPP/ABV and ABVD had comparable results and reached a high tumor control and overall survival in both early...

Resultado neonatal adverso en la rotura prematura de membranas de pretérmino según el modo del parto / Adverse neonatal outcome in patients with preterm PROM according to mode of delivery

Objetivo: Evaluar el resultado neonatal adverso según modo de parto en la rotura prematura de membranas de pretérmino (RPMPT). Métodos: Participaron 135 embarazadas entre 24 y 34 semanas de gestación con diagnóstico de rotura prematura de membranas. Se excluyeron pacientes en trabajo de parto y condiciones maternas y fetales severas que pudiesen alterar el resultado perinatal. Todas las embarazadas tuvieron evaluación microbiológica del líquido amniótico y cérvicovaginal, y recibieron antibióticos, corticoesteroides y manejo expectante hasta las 35 semanas. Se definió resultado neonatal adverso (RA) compuesto, la variable que incluyó morbilidad neonatal severa, secuelas o muerte neonatal. Se definió invasión microbiana de la cavidad amniótica (IMCA) por cultivo positivo del líquido amniótico. Funisitis se diagnosticó por la presencia de leucocitos polimorfonucleares en la pared de los vasos umbilicales o gelatina de Warthon. La cesárea se realizó por indicaciones obstétricas o por urgencias. Para el análisis se usó curva ROC y chi cuadrado. Resultados: Se incluyeron 116 pacientes. Modo del parto: vaginal 50,1 por ciento y cesárea 49,9 por ciento. La IMCA fue 52,6 por ciento y el RA 17,2 por ciento. El RA no dependió del modo del parto (vaginal 13,6 por ciento vs. cesárea 21,1 por ciento). La vía del parto no influyó en el RA de los subgrupos donde este resultado fue más frecuente: <1500 gramos de peso al nacer (vaginal 46,7 por ciento vs cesárea 47,4 por ciento) y <31 semanas de gestación al parto (vaginal 35 por ciento vs cesárea 35,5 por ciento). El RA se asoció con variables infecciosas: IMCA 24,6 por ciento, IMCA por S agalactiae 71,4 por ciento, corioamnionitis histológica 100 por ciento y funisitis 94,4 por ciento. Las 30 semanas de edad gestacional (Curva Roe) identificó al feto con mayor riesgo de resultado neonatal adverso según edad gestacional al parto. Conclusión: En la paciente con RPMPT manejada con antibióticos, corticosteroides y conducta expe...

[Outcome of microbial invasion of amniotic cavity in the preterm premature rupture of membranes]. / Invasión microbiana de la cavidad amniótica en la rotura de membranas de pretérmino. Resultados maternoneonatales y patología placentaria según microorganismo aislado.

BACKGROUND: Microbial invasion of amniotic cavity occurs in 30 to 50% of patients with premature membrane rupture. AIM: To determine the outcomes associated with microbial invasion of the amniotic cavity (MIAC) in patients with preterm premature rupture of membrane (pPROM). PATIENTS AND METHODS: One hundred thirty four patients with preterm pPROM between 24 and 34 weeks of pregnancy, without clinical infection or labor, were studied. Cultures were obtained by transabdominal amniocentesis from the amniotic fluid and the lower genital tract. Four groups of MIAC were observed: MIAC1: due to S. agalactiae, F. nucleatum or H. influenzae as only etiologic agents, MIAC2: due to other bacteria, alone or mixed, MIAC3: due to U. urealyticum as only etiologic agent, MIAC0: No MIAC and no infection of the lower genital tract. Study patients received antibiotics and were managed expectantly until 35 weeks unless clinical chorioamnionitis developed or an amniotic fluid culture returned positive for S. agalactiae, F. nucleatum or H. influenzae. RESULTS: Ninety six patients were enrolled: MIAC1 (n=11), MIAC2 (n=30), MIAC3 (n=19) and MIAC0 (n=36). Clinical chorioamnionitis was more common in patients with MIAC1 than those with MIAC3 (p<0.01) and those without infection (p<0.001). The admission to delivery interval was shorter in patients with MIAC1 (2.8 days) than those with MIAC3 (10.1 days, p<0.05) and those without infection (18 days, p<0.001). Delivery within 48 h and within 7 days of admission were also more frequent in patients with MIAC1 than in patients with MIAC3 (p<0.05) or those without infection (p<0.001). Newborns to mothers with MIAC1 had a higher frequency of infection (36%), asphyxia (36%), admission to neonatal ICU (100%) and death (46%) than those of mothers with MIAC3 and those without infection. Birth weight was also significantly lower. Histological chorioamnionitis was more common in patients with MIAC1 than in patients with MIAC3 and those without infection. The rate of funisitis was higher in patients with MIAC1 than those without infection. CONCLUSIONS: In patients with preterm PROM, microbial invasion of the amniotic cavity by S. agalactiae, F. nucleatum or H. influenzae is associated with high frequency of adverse maternal and neonatal outcomes and neonatal death.

Invasión microbiana de la cavidad amniótica en la rotura de membranas de pretérmino: Resultados maternoneonatales y patología placentaria según microorganismo aislado / Outcome of microbial invasion of amniotic cavity in the preterm premature rupture of membranes

Background: Microbial invasion of amniotic cavity occurs in 30 to 50percent of patients with premature membrane rupture. Aim: To determine the outcomes associated with microbial invasion of the amniotic cavity (MIAC) in patients with preterm premature rupture of membrane (pPROM). Patients and methods: One hundred thirty four patients with preterm pPROM between 24 and 34 weeks of pregnancy, without clinical infection or labor, were studied. Cultures were obtained by transabdominal amniocentesis from the amniotic fluid and the lower genital tract. Four groups of MIAC were observed: MIAC1: due to S. agalactiae, F. nucleatum or H. influenzae as only etiologic agents, MIAC2: due to other bacteria, alone or mixed, MIAC3: due to U. urealyticum as only etiologic agent, MIAC0: No MIAC and no infection of the lower genital tract. Study patients received antibiotics and were managed expectantly until 35 weeks unless clinical chorioamnionitis developed or an amniotic fluid culture returned positive for S. agalactiae, F. nucleatum or H. influenzae. Results: Ninety six patients were enrolled: MIAC1 (n=11), MIAC2 (n=30), MIAC3 (n=19) and MIAC0 (n=36). Clinical chorioamnionitis was more common in patients with MIAC1 than those with MIAC3 (p<0.01) and those without infection (p<0.001). The admission to delivery interval was shorter in patients with MIAC1 (2.8 days) than those with MIAC3 (10.1 days, p<0.05) and those without infection (18 days, p<0.001). Delivery within 48 h and within 7 days of admission were also more frequent in patients with MIAC1 than in patients with MIAC3 (p<0.05) or those without infection (p<0.001). Newborns to mothers with MIAC1 had a higher frequency of infection (36percent), asphyxia (36percent), admission to neonatal ICU (100percent) and death (46prcent) than those of mothers with MIAC3 and those without infection. Birth weight was also significantly lower. Histological chorioamnionitis was more common in patients with MIAC1 than in patients with MIAC3 and those without infection. The rate of funisitis was higher in patients with MIAC1 than those without infection. Conclusions: In patients with preterm PROM, microbial invasion of the amniotic cavity by S. agalactiae, F. nucleatum or H. influenzae is associated with high frecuency of adverse maternal and neonatal outcomes and neonatal death.

Estudio anátomo-clínico de las causas de muerte fetal / Causes of fetal death: clinico-anatomical study

Objetivo: Conocer la causa de muerte fetal, mediante antecedentes clínicos maternos, análisis de los hallazgos de la autopsia fetal y estudio de la placenta. Material y Método: Se analizaron retrospectivamente 299 muertes fetales ocurridas entre las 22 y 42 semanas de gestación en un período de 5 años. Se incluyeron 279 casos con estudio histopatológico de la placenta y autopsia fetal. Se hizo la siguiente clasificación de causas primarias de muerte fetal: 1) Hipoxia fetal extrínseca, incluye asfixia aguda y shock: a) patologías placentarias, b) patologías del cordón umbilical, c) enfermedades maternas, d) causas no determinadas. 2) Anomalías congénitas. 3) Infecciones ascendentes. 4) Traumatismo del parto. 5) Hidrops fetal. No se clasificaron fetos macerados o placentas con alteraciones involutivas. Se establecieron tres grupos según la edad gestacional en que ocurrió la muerte fetal: 22-29 semanas, 30-36 semanas y 37-42 semanas. Resultados: Se conoció la causa de muerte fetal en 79,2 por ciento de los casos. Las causas más frecuentes fueron hipoxia fetal extrínseca 43,5 por ciento: insuficiencia placentaria 9,0 por ciento, hipertensión arterial 8,6 por ciento, desprendimiento placentario 6,1 por ciento, infarto placentario 5,7 por ciento y patología del cordón umbilical 4,3 por ciento. Anomalías congénitas 16,5 por ciento, infección bacteriana ascendente 16,1 por ciento, traumatismo del parto 2,2 por ciento e hidrops fetal 1,4 por ciento. Causa desconocida 20,8 por ciento . En gestaciones < de 30 semanas las principales causas fueron: infección ascendente 33,3por ciento, patología placentaria 17,7 por ciento y anomalías congénitas 15,6 por ciento. Entre las 30 y 36 semanas de gestación las principales causas fueron: patología placentaria 34,8 por ciento, anomalías congénitas 24,1 por ciento e hipertensión arterial 10,7 por ciento. En gestaciones entre 37 y 42 semanas las principales causas fueron: patología placentaria 19,7 por ciento, embarazo postérmi...

Caracterización citogenética en cáncer laríngeo / Cytogenetic characterization in laryngeal cancer

El cáncer laríngeo representa un 23 por ciento de las neoplasias malignas en la práctica clínica del otorrinolaringólogo. Mediante técnicas de citogenética se ha logrado describior cambios en el DNA de tumores epiteliales de cabeza y cuello, siendo lo mas frecuentes pérdida de 3p, 8p y 18q. Entre Mayo de 1996 y Julio de 1997 se estudiaron 13 pacientes con diagnóstico de cáncer laríngeo. Las alteraciones encontrada corresponden a pérdida del cromosoma Y, alteraciones del cromosoma 5, 4q+, 2p-y manosomía del cromosoma 15

[Clinical and molecular screening for fragile X syndrome in 300 patients with non-specific mental retardation]. / Pesquisa molecular y clínica del síndrome de X-frágil en 300 pacientes con retardo mental inespecífico.

BACKGROUND: Fragile X syndrome is the most frequent cause of mental retardation linked to the X chromosome. In the majority of cases, the mutation responsible for the syndrome is an expansion of the trinucleotide repeat (CGG)n, present in the 5' region of exon 1 of the gene for mental retardation associated with fragile X syndrome (FMR-1). AIM: To report the results of a fragile X screening in patients with mental retardation. PATIENTS AND METHODS: Fragile X screening using polymerase chain reaction methods was done in 386 X chromosomes from 300 patients (214 male), aged 4 to 26 years old. The modified Hagerman test was applied to male patients. Hybridization techniques were applied in a subgroup of 51 patients. RESULTS: (CGG)n 30 was the allele found with the highest frequency in 50.2% of patients. (CGG)n 29 was found in 29% of patients. One subject had an allele with 46 CGG repeats, which corresponds to the gray zone. Hybridization studies were highly concordant with PCR, detecting four males with fragile X syndrome and a carrier female. The average clinical score of mental retardation not due to fragile X syndrome was 10.3 +/- 3.4 (range 3 to 23), and 97% of males had a score below 19. The concordance between scores over 20 and molecular genotype was 98%. CONCLUSIONS: The distribution of (CGG)n repeats, observed in this study, was significantly different to that previously reported for a normal Chilean population. The dispersion of molecular status and clinical score was lower than previously described using cytogenetic techniques.

Distribution of (CGG)n and FMR-1 associated microsatellite alleles in a normal Chilean population.

We report on the allele distribution in a normal Chilean population at 2 microsatellite loci neighbouring the FRAXA locus and at the CGG repeat in the 5' end of the FMR-1 gene, which causes the fragile X syndrome. The most common CGG repeat allele was 30 (41.7%), with 29 being second most common (30.2%). This distribution was similar from that seen in Caucasians but different from that observed in Chinese controls, where the most common allele was 29 repeats. Four alleles of FRAXAC1 and 6 of DXS548 were observed in the Chilean sample. A striking linkage disequilibrium of FMR-1 alleles with FRAXAC1 alleles was observed. In 90% of the 30 CGG repeat alleles only 31% of the 29 CGG repeat alleles had the FRAXAC1 154 bp allele. This result is in agreement with the suggestion that slippage between CGG repeat alleles 29 and 30 and between 152 and 154 FRAXAC1 alleles is very rare. This study suggests a founder chromosome effect in the Chilean population.

[Fragile X syndrome. Clinical analysis of 300 Chilean patients with unspecific mental retardation]. / Síndrome de X frágil. Análisis clínico en 300 pacientes con retardo mental inespecífico en la población Chilena.

BACKGROUND: Fragile X syndrome is the most important cause of sex linked mental retardation and the second of chromosomal origin, after Down syndrome. AIM: To apply the modified Hagerman score to patients with mental retardation and to relate clinical findings with cytogenetic and molecular diagnosis. PATIENTS AND METHODS: The modified Hagerman score was applied to 214 male and 86 female patients with mental retardation. The clinical variables in non fragile X and fragile X cases, determined by molecular and cytogenetic methods, were compared. RESULTS: The score in 210 non fragile X males was 10.5 + 3.7 (range 3-23), compared to 21.4 + 2.1 (range 19 to 23) in the four fragile X patients. All fragile X patients had mental retardation, attention deficits, hyperactivity disorders, hand biting and poor visual contact. Hand biting, flapping and perserving speech were observed in a significantly higher number of fragile X males. Only one of 86 females had fragile X syndrome: Her most relevant findings were a long face and high forehead, an attention deficit, hyperactivity and poor visual contact. No clinical differences with other mentally retarded females were found. CONCLUSIONS: Approximately 5% of institutionalized males with mental retardation have a fragile X syndrome.

[Molecular and genetic features of fragile X syndrome]. / Aspectos genético moleculares del síndrome de X-frágil.

The fragile-X syndrome is the most frequent cause of sexlinked mental retardation. In the majority of the cases the mutation responsible for the Martin Bell syndrome is produced when an expansion of the (CGG)n repetition is present in the region 5' of the exón 1 of the gene for X-fragile mental retardation 1 (FMR1), together with a hipermethylation in the CpG promoter region of the gene. The result of this situation is the absence of FMRP protein coded by the gene. The correlation between length of the (CGG)n sequences and of the X-fragile phenotype has permitted a more precise diagnosis of affected and carrier individuals by means of direct DNA analysis. Nevertheless the molecular genetic basis of the instability and expansion of the (CGG)n sequence represents a problem not yet resolved. Two polymorphic microsatellite (AC)n repetitions, FRAXAC1 and FRAXAC2 that flank the FMR-1 gene have been recently described. It has been suggested that some haplotypes of FRAXAC1 and FRAXAC2 could be associated to long (CGG)n repetitions and that these haplotypes would confer more instability to the repeated fragment thus increasing the probability of expansion. It has also been described that the (CGG)n repetition of the FMR-1 gene is interrupted by AGG trinucleotides and that the loss of one AGG would be an important mutational event in the generation of predisposing unstable alleles of of the X-fragile syndrome.

CFTR mutations in Chilean cystic fibrosis patients.

An analysis of five of the most common cystic fibrosis (CF) mutations worldwide (delta F-508, R-553X, G-551D, N-1303K and G-542X) was performed in 36 Chilean patients. Polymerase chain reaction (PCR) amplification of the DNA followed by allele specific restriction enzyme analysis was used for detection. The overall frequencies of the mutations in the chromosomes analyzed were 29.2% for delta F-508 and 4.2% for R-553X (n = 72). The G-542X, G-551D and N-1303 K mutations were absent in the Chilean sample. Our data suggest however that delta F-508 is not the most common CF mutation in Chilean patients. delta F-508 and R-553X account for only 33.4% of the alleles; 66.6% of them do not respond to the probes used and still remain uncharacterized.

Características inmunohematológicas en 59 casos de mieloma múltiple Hospital Regional de Talca / Immunohematological characteristics in 59 cases of multiple myeloma regional Hospital of Talca

El mieloma múltiple, es la gammapatía monoclonal más frecuente. Se caracteriza por la proliferación de un clon neoplásico de células plasmáticas y como consecuencia presenta, entre otros trastornos, alteraciones inmunohematológicas. El objetivo del estudio fue conocer las características inmunohematológicas al momento del diagnóstico, en una serie clínica de 59 casos de mieloma múltiple, diagnosticados en el Hospital Regional de Talca, entre los años 1980 y 1992. Un 61,0 por ciento de los casos eran hombres y un 39,0 por ciento mujeres. Considerando ambos sexos, el promedio de edad fue de 63,4 +- 12,6 años. El componente monoclonal sérico fue clase IgG en 52,1 por ciento de los pacientes, IgA en un 22,9 por ciento e IgM en un 2,1 por ciento. Un 16,5 por ciento fue mieloma biclonal y un 6,2 por ciento no presentó componente monoclonal. La mayoría de los casos presentó IgG sérica << 3500 mg/dl o IgA sérica << 2000 mg/dl, criterio que por si sólo hace diagnóstico de mieloma múltiple (South Westh Oncology Group-SWOG). Entre las alteraciones hematológicas periféricas se encontró anemia (* 88,1 por ciento), leucopenia (34,3 por ciento) y bicitopenia (29,4 por ciento). Un 50 por ciento de los pacientes presentó una plasmocitosis superior a 30 por ciento en la médula ósea

[Amniotic band syndrome: description of 2 clinical cases and discussion on etiopathogenesis]. / Síndrome de bridas amnióticas: descripción de dos casos clínicos y discusión etiopatogénica.

The paper reports two cases in which infants were born with alterations described as the Amniotic Band Syndrome. The first one shows inferior limbs in bizarre positions, and the superior mutilated; also a cleft lip was present. The second case corresponds to a newborn with a facionucal band that almost separates the mouth from the rest of the face. Pathogenic theories are reexamined in face of the cases presented.

Hidrops fetal no inmunológico: experiencia de 33 casos / Non immunological fetal hydrops: experience in 33 cases

En un estudio retrospectivo de autopsias perinatales efectuadas durante 11 años en el Hospital Sam Borja Arriarán, se encontró 33 casos de hidrops fetal no inmunológico, correspondiendo al 1,83 por ciento de las autopsias perinatales; la incidencia fue de 1 caso por cada 3.624 nacidos vivos. Entre las etiologías destacan las causas infecciosas y las anormalidades genéticas o cromosómicas, ambas con un 27,3 por ciento cada una; en un 15,2 por ciento se encontró algún trastorno del embarazo, especialmente gestaciones múltiples y no hubo casos idiopáticos. En todos se observó anemia severa y marcada eritropoyesis extramedular. En un 58 por ciento de los casos hubo hipoplasia pulmonar y en un 31 por ciento hipoplasia renal. La placenta estuvo aumentada de tamaño en el 100 por ciento de los casos estudiados. Entre los mecanismos implicados en la génesis del estado hidrópico están la anemia crónica, la hipoproteinemia y la insuficiencia cardíaca

[Molecular genetic study of cystic fibrosis in the Chilean population. Relationship to its clinical expression]. / Estudio genético molecular de la fibrosis quística en la población Chilena. Relación con su expresión clínica.

Aiming to establish a genotype-phenotype relationship and to search a clinical expression in heterozygotes, 25 Chilean subjects with Cystic Fibrosis and 165 relatives were subjected to a clinical-molecular study. The most common mutations found worldwide were studied: delta F-508, G-542X, N-1303K, R-553X and G551D. Clinical and laboratory assessment comprised chest X-rays, spirometry, clinical evaluation, nutritional assessment, sweat test and carotenemia. Age at diagnosis was lower among homozygotes for the mutation delta F-508. In this group, Brasfield and Schawchman scores were better, probably due to an earlier initiation of treatment. No other differences were found among genotypic groups or relatives. Genetic markers indicated a higher european component of the sample, compared to the general Chilean population.

[Frequency and characteristics of genetic morbidity in a pediatric hospital]. / Frecuencia y características de la morbilidad genética en un hospital pediátrico.

Frequency and characteristics of patients discharged with recognized genetic diseases by current technical literature available in 1988 (GD) from a pediatric hospital at Santiago, Chile, are described. On the last three months of year 1988, a prospective study on 2,987 hospital admissions corresponding to 1,196 patients was done. Prevalence and incidence of GD were 62.5% and 17% among hospital admissions as a whole and 49.75% and 47.7% respectively when only individual patients were considered. No sex differences were found between patients with and without GD, but the frequency of GD was significantly higher in patients staying 7 or more weeks in hospital (12% vs. 3.4%), as among those who required two or more admissions (10.9% vs. 4.3%) or were referred from outside metropolitan Santiago (37.3% vs. 5.1%). First ten more frequent GD, in decreasing order of importance, were cardiac malformations, leukemias, cleft lip and/or palate, congenital dislocation of the hip, epilepsy and convulsions, idiopathic scoliosis, Down's syndrome, anal malformations, aganglionic megacolon and cystic fibrosis. The importance of diseases with genetic background is thus emphasized in a pediatric hospital.

[Concentrations of serum lipids in children with Down's syndrome]. / Concentraciones de lípidos séricos en niños con síndrome de Down.

The level of blood lipids in children with Down's syndrome was determined with the purpose of establishing possible differences in total cholesterol, triglyceride and HDL-cholesterol levels with those of healthy children. LDL-cholesterol fraction was calculated. Blood samples were obtained from 66 healthy children (controls) and 72 patients who suffered from clinically diagnosed Down's syndrome. All the children were grouped according to age. The variables of body weight, height, and blood lipids gave a distribution of values that allows one to distinguish the group of children with Down's syndrome from the normal group. The values obtained for triglycerides, total cholesterol, and LDL-cholesterol ranged higher, with a constant deficit of HDL-cholesterol in all age groups. The lipid pattern encountered in the Down's syndrome patient suggests the existence of unknown, possibly genetically determined mechanisms, that provoke a disorder in lipid metabolism.

Septicemia neonatal de comienzo precoz por Listeria monocytogenes / Listeria monocytogenes early onset neonatal sepsis

Se presentan seis casos de septicemia neonatal de comienzo precoz por Listeria monocytogenes diagnosticados entre diciembre de 1984 y noviembre de 1986. Se destacan algunos signos clínicos peculiares como la presencia de meconio en el líquido amniótico, asociado a prematurez, hepatomegalia, esplenomegalia, exantema maculopapular y el hallazgo de proctitis con prolapso anal. Cuatro de los seis pacientes evolucionaron muy grave con compromiso pulmonar extenso y requirieron de ventilación mecánica, tres de ellos fallecieron en los primeros cinco días a pesar del diagnóstico y tratamiento oportunos. La gravedad y alta letalidad de esta enfermedad hace necesario intentar reconocer la infección materna cuyo tratamiento podría prevenir la sepsis neonatal