ABSTRACT
We report a boy with Down syndrome and leukemia who acquired uniparental isodisomy of chromosome 7q as a secondary chromosomal change during recurrence of the disease. His karyotype before therapy was 46,XY,der(1)t(1;1)(p36;q32),-7,+21c/46,idem,del(9)(p22), whereas at recurrence it was 46,XY,der(1)t(1;1)(p36;q32,-7,der(7)(qter-->p22 through pter::q10-->qter),del(9)(p22),+21c/47,XY,+21c. By using polymerase chain reaction amplification of D7S493 and D7S527 markers, we identified the loss of the maternal chromosome 7 with a consequent paternal isodisomy in the clone with dup7q. This rearrangement could be implicated in the progression of the disease by causing (1) nullisomy for a gene or genes located on 7p22-->pter, (2) functional double doses of exclusively paternal expressed genes, and (3) restoration of the effects produced by haploinsufficiency of biparental expressed genes.
Subject(s)
Chromosomes, Human, Pair 7/genetics , Down Syndrome/complications , Down Syndrome/genetics , Leukemia, Myeloid, Acute/complications , Leukemia, Myeloid, Acute/genetics , Uniparental Disomy/genetics , Child, Preschool , Chromosome Banding , Humans , In Situ Hybridization, Fluorescence , Male , Polymorphism, Genetic/geneticsABSTRACT
Se efectuó una encuesta descriptiva y prospectiva, en 291 niños de tres guarderías del ISSSTE en Guadalajara. Se realizaron historias clínicas a los sospechosos de los cuales 11 fueron positivas (3.78 por ciento). La edad más frecuente de presentación es a los 2 (34.7 por ciento) y a los 4 (34.7 por ciento) años. La relación entre los sexos fue de 1:1, las reacciones prevalecientes fueron: intolerancia a la lactosa 1.7 por ciento, alergia al huevo 0.6 por ciento, conservadores 0.6 por ciento, a la zanahoria 0.3 por ciento, salchicha y jamón 0.3 por ciento. Se obtuvo una prevalencia de reacciones adversas a los alimentos del 3.7 por ciento de esta población de guardería. El inicio de la ablactación se inició a temprana edad (2 a 3 meses) con alimentos sumamente alergénicos como son: cítricos (43.4 por ciento), huevo (13 por ciento). Como manifestaciones clínicas se encontraron: evacuaciones diarreicas, vómito, dolor, distensión abdominal, flatulencia, edema palpebral, nasal, de mejillas y manos
Subject(s)
Humans , Male , Female , Infant , Child, Preschool , Food Hypersensitivity/epidemiology , Food Hypersensitivity/physiopathology , Health Surveys , Schools, NurseryABSTRACT
A prospective descriptive survey was applied to 291 children of three different nurseries in Guadalajara, México. Medical history was done to the suspicious ones, from those, only 11 were positive (3.78%). The presumptive diagnosis of food allergy was based on the patient's history, food challenges and food elimination. The most frequent age of presentation was at 2 (34.7%) and at 4 (34.7%) years old. The food reactions were: lactose intolerance (1.7%), allergy to eggs (0.6%), carrots (0.3%), food additives (0.6%), sausages and ham (0.3%), gettina a prevalence of adverse reaction of 3.7% to food in this population. The ablactation began before three months of age in all the children with allergenic meals like: citrics (43.3%) and eggs (13%). The clinical manifestations found were diarrhea, vomiting, abdominal pain, abdominal distense, flatulence palpebral edema of nose, cheeks and hands.
Subject(s)
Child Day Care Centers , Food Hypersensitivity/epidemiology , Lactose Intolerance/epidemiology , Child, Preschool , Female , Humans , Infant , Male , Mexico/epidemiology , Prevalence , Prospective StudiesABSTRACT
A random population sample was studied with a view to determining the proportion of children of less than on year of age whose weight is less than the minimum adequate weight (MAW) for their age, as well as to identifying factors of a socio-demographic nature that could be associated with this problem and the socio-sanitary importance of these factors. The sample studied was of children of less than one year of age, born between 05/01/1990 and 04/30/1991, whose mothers were entitled to the services of the Mexican Institute of Social Security, in Tlaquepaque and Tonalá, municipalities adjacent to the Metropolitan Zone of Guadalajara, the second most important city in Mexico. The ponderal assessment of the infants was performed on the basis of tables which the Latin-American Perinatology Center had developed for this purpose. Through the use of logistic regression, Odds Ratios (OR) were estimated, with 90% confidence intervals (CI). The model thus prepared was adjusted by means of the H* statistics. Likewise, the population's attributable risk (PAR) was calculated, as well as the probability that a child would not reach the MAW for its age, in the presence or absence of particular risk factors. The results indicate that nearly one fifth of the infants studied do not reach MAW.(ABSTRACT TRUNCATED AT 250 WORDS)