ABSTRACT
The renal Na(+):Cl(-) cotransporter rNCC is mutated in human disease, is the therapeutic target of thiazide-type diuretics, and is clearly involved in arterial blood pressure regulation. rNCC belongs to an electroneutral cation-coupled chloride cotransporter family (SLC12A) that has two major branches with inverse physiological functions and regulation: sodium-driven cotransporters (NCC and NKCC1/2) that mediate cellular Cl(-) influx are activated by phosphorylation, whereas potassium-driven cotransporters (KCCs) that mediate cellular Cl(-) efflux are activated by dephosphorylation. A cluster of three threonine residues at the amino-terminal domain has been implicated in the regulation of NKCC1/2 by intracellular chloride, cell volume, vasopressin, and WNK/STE-20 kinases. Nothing is known, however, about rNCC regulatory mechanisms. By using rNCC heterologous expression in Xenopus laevis oocytes, here we show that two independent intracellular chloride-depleting strategies increased rNCC activity by 3-fold. The effect of both strategies was synergistic and dose-dependent. Confocal microscopy of enhanced green fluorescent protein-tagged rNCC showed no changes in rNCC cell surface expression, whereas immunoblot analysis, using the R5-anti-NKCC1-phosphoantibody, revealed increased phosphorylation of rNCC amino-terminal domain threonine residues Thr(53) and Thr(58). Elimination of these threonines together with serine residue Ser(71) completely prevented rNCC response to intracellular chloride depletion. We conclude that rNCC is activated by a mechanism that involves amino-terminal domain phosphorylation.
Subject(s)
Chlorides/metabolism , Gene Expression Regulation , Sodium Chloride Symporters/metabolism , Amino Acid Sequence , Animals , Chlorides/chemistry , Humans , Molecular Sequence Data , Phosphorylation , Protein Structure, Tertiary , Rats , Sequence Homology, Amino Acid , Threonine/chemistry , Threonine/metabolism , Xenopus laevisABSTRACT
BACKGROUND: A cytogenetical study should be performed to every newborn with malformations. If a chromosomal aberration is found, parents must be studied to give an adequate genetic advise. AIM: To study the frequency of chromosomal aberrations in newborns with malformations. PATIENTS AND METHODS: In the Clinical Hospital of the University of Chile all malformations in newborns are registered, as part of the Collaborative Latin American Study of Congenital Malformations (ECLAMC). The frequency of chromosomal aberrations, determined by cytogenetical studies, was determined in newborns with malformations. RESULTS: In the study period, there were 32,214 births. Of these, 2,268 live newborns and 43 stillbirths had malformations. Ninety nine children with malformations had chromosomal aberrations (4.3%). Trisomy 21 was the most common aberration with a rate of 23/10,000 births, followed by trisomy 18 with a rate of 4/10,000 and trisomy 18 with a rate of 1.2/10,000. Ninety four percent of these children were born alive and 16.1% died before discharge from the hospital. The masculinity indexes for Down syndrome and for trisomy 18 were 0.38 and 0.61 respectively. CONCLUSIONS: A higher frequency of female gender for trisomy 21 and male gender for trisomy 18 has not been reported previously.
Subject(s)
Chromosome Aberrations/statistics & numerical data , Congenital Abnormalities/epidemiology , Case-Control Studies , Chile/epidemiology , Congenital Abnormalities/genetics , Down Syndrome/epidemiology , Down Syndrome/genetics , Female , Humans , Infant, Newborn , Male , Prevalence , Risk Factors , Trisomy , Turner Syndrome/epidemiology , Turner Syndrome/geneticsABSTRACT
BACKGROUND: There were 26,617 births attended at the University of Chile Clinical Hospital, of which 0.63% were stillborn. A frequency of malformations of 7.2 per born alive and of 22.1 per stillborn was detected in this population. AIM: To report the frequency of digestive system congenital malformations in this population. MATERIAL AND METHODS: Analysis of data from the births that occurred at the University of Chile Hospital, that was gathered using codified form for the Latin American Collaborative Study for Congenital Malformations. RESULTS: Ninety seven digestive congenital malformations were detected, with a rate of 26.4 per 10,000 born alive and 12.2 per 10,000 stillborn. Diaphragmatic hernia was the most frequent malformation found, followed by imperforated anus, onphalocele and esophageal atresia. There was a secular increase in the frequency of these malformations. CONCLUSIONS: The frequency of digestive system malformations is higher than in the rest of hospitals participating in the Latin American Collaborative Study for Congenital Malformations.
Subject(s)
Abnormalities, Multiple/epidemiology , Digestive System Abnormalities/epidemiology , Chile/epidemiology , Female , Hospitals, Maternity , Humans , Incidence , Infant Mortality , Infant, Newborn , Male , PrevalenceABSTRACT
In 1952, Virginia Apgar MD, proposed to assess the clinical condition of newborns, during the first minutes of life and to evaluate anesthetic and obstetrical practices. She proposed five objectives and easily measured clinical signs: cardiac frequency, respiratory effort, muscle tone, irritability and color. The test was later named "Apgar Score Test". Since then, all newborns are evaluated using Apgar score. This article reviews the uses and abuses of Apgar test. It has been used to assess asphyxia, predict neurological damage, to identify newborns that require reanimation and as a survival predictor. It is concluded that Apgar score is useful to know the vitality of a newborn during his first minutes of life. It is a background, that along with acid base state and evolution, allows the diagnosis of asphyxia and predicts survival. Therefore, after half a century of use, it still remains useful.
Subject(s)
Apgar Score , Infant, Premature/physiology , Asphyxia Neonatorum/diagnosis , Clinical Protocols/standards , Humans , Infant, Newborn , Predictive Value of Tests , Sensitivity and SpecificityABSTRACT
Antecednetes. Chlamydia trachomatis (CT) es una de las principales causas de enfermedades de transmisión sexual (ETS). Esta infección se encuentra asociada a enfermedad pélvica inflamatoria (EPI), infertilidad y esterilidad. En México, la prevalencia por CT es de 9 por ciento en mujeres que acuden a una clínica de enfermedades de transmisión sexual y con una prevalencia de 4 por ciento en población abierta. La frecuencia real de esta infección en mujeres con estrilidad es muy controvertida. Objetivo. Analizar la prevalencia de infección por C. trachomatis en pacientes con esterilidad y obstétricas. Material y métodos. El presente estudio incluye 83 pacientes, divididas en dos grupos. Grupo I (n=38) mujeres con esterilidad. Grupo II (n=45) mujeres con embarazo. Se determinó la frecuencia de CT en un diseño transversal, comparativo, de casos y controles de abril a noviembre de 1993. Resultados y conclusiones. Los resultados mostraron una frecuencia de 18.42 por ciento y 15.55 por ciento respectivamente. El artículo discute las principles implicaciones clínicas y metodológicas de esta importante entidad
Subject(s)
Humans , Female , Pregnancy , Chlamydia Infections/diagnosis , Chlamydia Infections/microbiology , Chlamydia trachomatis/isolation & purification , Infertility, Female/etiology , PregnancyABSTRACT
Se estudiaron 36 pacientes con síndrome Hellp y sus respectivos neonatos en un período de siete años, en el Instituto Nacional de Perinatología (INPer). El propósito del estudio es describir las características clínico-epidemiológicas unificar criterios diagnósticos y de clasificación así como determinar la morbi-mortalidad materna y perinatal. Un 44.6 por ciento (16/36) presentaron el tipo I, y un 55.6 por ciento (20/36) el tipo II. La edad promedio de las pacientes fue de 29.27 ñ 5.33 años. El promedio de embarazos fue de tres. Un 38.9 por ciento (14/36) habían recibido control prenatal regular. Ambos tipos son más frecuentes en pacientes con embarazos pretérmino entre 28-36 semanas. Las pacientes con preclampsia severa, inminencia de eclampsia y eclampsia son las más afectadas. Las mujeres afectadas por el tipo I se complican con mayor frecuencia y tuvieron una estancia intrahospitalaria más prolongada. La mortalidad materna se estimó en 5.55 por ciento. Los resultados perinatales son pobres, una gran cantidad de neonatos nacen asfixiados. Los recién nacidos de pacientes afectadas por el tipo I presentan complicaciones más graves y por esta razón su estancia intrahospitalaria fue más prolongada. La mortalidad perinatal se estimó en 32.43 por ciento
