51 resultados para Parent Child Observation


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We report the case of a 7-year-old male child diagnosed with Williams-Beuren syndrome and arterial hypertension refractory to clinical treatment. The diagnosis was confirmed by genetic study. Narrowing of the descending aorta and stenosis of the renal arteries were also diagnosed. Systemic vascular alterations caused by deletion of the elastin gene may occur early in individuals with Williams-Beuren syndrome, leading to the clinical manifestation of systemic arterial hypertension refractory to drug treatment.

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This paper deals with problems on population genetics in Hymenoptera and particularly in social Apidae. 1) The studies on populations of Hymenoptera were made according to the two basic types of reproduction: endogamy and panmixia. The populations of social Apinae have a mixed method of reproduction with higher percentage of panmixia and a lower of endogamy. This is shown by the following a) males can enter any hive in swarming time; b) males of Meliponini are expelled from hives which does not need them, and thus, are forced to look for some other place; c) Meliponini males were seen powdering themselves with pollen, thus becoming more acceptable in any other hive. The panmixia is not complete owing to the fact that the density of the breeding population as very low, even in the more frequent species as low as about 2 females and 160 males per reproductive area. We adopted as selection values (or survival indices) the expressions according to Brieger (1948,1950) which may be summarised as follows; a population: p2AA + ²pq Aa + q2aa became after selection: x p2AA + 2pq Aa + z q²aa. For alge-braics facilities Brieger divided the three selective values by y giving thus: x/y p2 AA + y/y 2 pq Aa + z/y q²aa. He called x/y of RA and z/y of Ra, that are survival or selective index, calculated in relation to the heterozygote. In our case all index were calculated in relation to the heterozygote, including the ones for haploid males; thus we have: RA surveval index of genotype AA Ra surveval index of genotype aa R'A surveval index of genotype A R'a surveval index of genotype a 1 surveval index of genotype Aa The index R'A ande R'a were equalized to RA and Ra, respectively, for facilities in the conclusions. 2) Panmitic populations of Hymenoptera, barring mutations, migrations and selection, should follow the Hardy-Weinberg law, thus all gens will be present in the population in the inicial frequency (see Graphifc 1). 3) Heterotic genes: If mutation for heterotic gene ( 1 > RA > Ra) occurs, an equilibrium will be reached in a population when: P = R A + Ra - 2R²a _____________ (9) 2(R A + Ra - R²A - R²a q = R A + Ra - 2R²A _____________ (10) 2(R A + Ra - R²A - R²a A heterotic gene in an hymenopteran population may be maintained without the aid of new mutation only if the survival index of the most viable mutant (RA) does not exced the limiting value given by the formula: R A = 1 + √1+Ra _________ 4 If RA has a value higher thah the one permitted by the formula, then only the more viable gene will remain present in the population (see Graphic 10). The only direct proof for heterotic genes in Hymenoptera was given by Mackensen and Roberts, who obtained offspring from Apis mellefera L. queens fertilized by their own sons. Such inbreeding resulted in a rapid loss of vigor the colony; inbred lines intercrossed gave a high hybrid vigor. Other fats correlated with the "heterosis" problem are; a) In a colony M. quadrifasciata Lep., which suffered severely from heat, the percentage of deths omong males was greater .than among females; b) Casteel and Phillips had shown that in their samples (Apis melifera L). the males had 7 times more abnormalities tian the workers (see Quadros IV to VIII); c) just after emerging the males have great variation, but the older ones show a variation equal to that of workers; d) The tongue lenght of males of Apis mellifera L., of Bombus rubicundus Smith (Quadro X), of Melipona marginata Lep. (Quadro XI), and of Melipona quadrifasciata Lep. Quadro IX, show greater variationthan that of workers of the respective species. If such variation were only caused by subviables genes a rapid increasse of homozigoty for the most viable alleles should be expected; then, these .wild populations, supposed to be in equilibrium, could .not show such variability among males. Thus we conclude that heterotic genes have a grat importance in these cases. 4) By means of mathematical models, we came to the conclusion tht isolating genes (Ra ^ Ra > 1), even in the case of mutations with more adaptability, have only the opor-tunity of survival when the population number is very low (thus the frequency of the gene in the breeding population will be large just after its appearence). A pair of such alleles can only remain present in a population when in border regions of two races or subspecies. For more details see Graphics 5 to 8. 5) Sex-limited genes affecting only females, are of great importance toHymenoptera, being subject to the same limits and formulas as diploid panmitic populations (see formulas 12 and 13). The following examples of these genes were given: a) caste-determining genes in the genus Melipona; b) genes permiting an easy response of females to differences in feeding in almost all social Hymenoptera; c) two genes, found in wild populations, one in Trigona (Plebéia) mosquito F. SMITH (quadro XII) and other in Melipona marginata marginata LEP. (Quadro XIII, colonies 76 and 56) showing sex-limited effects. Sex-limited genes affecting only males do not contribute to the plasticity or genie reserve in hymenopteran populations (see formula 14). 6) The factor time (life span) in Hymenoptera has a particular importance for heterotic genes. Supposing one year to be the time unit and a pair of heterotic genes with respective survival indice equal to RA = 0, 90 and Ra = 0,70 to be present; then if the life time of a population is either one or two years, only the more viable gene will remain present (see formula 11). If the species has a life time of three years, then both alleles will be maintained. Thus we conclude that in specis with long lif-time, the heterotic genes have more importance, and should be found more easily. 7) The colonies of social Hymenoptera behave as units in competition, thus in the studies of populations one must determine the survival index, of these units which may be subdivided in indice for egg-laying, for adaptive value of the queen, for working capacity of workers, etc. 8) A study of endogamic hymenopteran populations, reproduced by sister x brother mating (fig. 2), lead us to the following conclusions: a) without selection, a population, heterozygous for one pair of alleles, will consist after some generations (theoretically after an infinite number of generation) of females AA fecundated with males A and females aa fecundated with males a (see Quadro I). b) Even in endogamic population there is the theoretical possibility of the presence of heterotic genes, at equilibrium without the aid of new mutations (see Graphics 11 and 12), but the following! conditions must be satisfied: I - surveval index of both homozygotes (RA e Ra) should be below 0,75 (see Graphic 13); II - The most viable allele must riot exced the less viable one by more than is permited by the following formula (Pimentel Gomes 1950) (see Gra-fic 14) : 4 R5A + 8 Ra R4A - 4 Ra R³A (Ra - 1) R²A - - R²a (4 R²a + 4 Ra - 1) R A + 2 R³a < o Considering these two conditions, the existance of heterotic genes in endogamic populations of Hymenoptera \>ecames very improbable though not - impossible. 9) Genie mutation offects more hymenopteran than diploid populations. Thus we have for lethal genes in diploid populations: u = q2, and in Hymenoptera: u = s, being u the mutation ratio and s the frequency of the mutant in the male population. 10) Three factors, important to competition among species of Meliponini were analysed: flying capacity of workers, food gathering capacity of workers, egg-laying of the queen. In this connection we refer to the variability of the tongue lenght observed in colonies from several localites, to the method of transporting the pollen in the stomach, from some pots (Melliponi-ni storage alveolus) to others (e. g. in cases of pillage), and to the observation that the species with the most populous hives are almost always the most frequent ones also. 11) Several defensive ways used for Meliponini to avoid predation are cited, but special references are made upon the camouflage of both hive (fig. 5) and hive entrance (fig. 4) and on the mimetism (see list in page ). Also under the same heading we described the method of Lestrimelitta for pillage. 12) As mechanisms important for promoting genetic plasticity of hymenopteran species we cited: a) cytological variations and b) genie reserve. As to the former, duplications and numerical variations of chromosomes were studied. Diprion simile ATC was cited as example for polyploidy. Apis mellife-ra L. (n •= 16) also sugests polyploid origen since: a) The genus Melipona, which belongs to a" related tribe, presents in all species so far studied n = 9 chromosomes and b) there occurs formation of dyads in the firt spermatocyte division. It is su-gested that the origin of the sex-chromosome of Apis mellifera It. may be related to the possible origin of diplo-tetraploidy in this species. With regards to the genie reserve, several possible types of mutants were discussed. They were classified according to their survival indices; the heterotic and neutral mutants must be considered as more important for the genie reserve. 13) The mean radius from a mother to a daghter colony was estimated as 100 meters. Since the Meliponini hives swarm only once a year we may take 100 meters a year as the average dispersion of female Meliponini in ocordance to data obtained from Trigona (tetragonisca) jaty F. SMITH and Melipona marginata LEP., while other species may give different values. For males the flying distance was roughly estimated to be 10 times that for females. A review of the bibliography on Meliponini swarm was made (pg. 43 to 47) and new facts added. The population desity (breeding population) corresponds in may species of Meliponini to one male and one female per 10.000 square meters. Apparently the males are more frequent than the females, because there are sometimes many thousands, of males in a swarm; but for the genie frequency the individuals which have descendants are the ones computed. In the case of Apini and Meliponini, only one queen per hive and the males represented by. the spermatozoos in its spermateca are computed. In Meliponini only one male mate with the queen, while queens of Apis mellijera L. are fecundated by an average of about 1, 5 males. (Roberts, 1944). From the date cited, one clearly sees that, on the whole, populations of wild social bees (Meliponini) are so small that the Sewall Wright effect may become of great importance. In fact applying the Wright's formula: f = ( 1/aN♂ + 1/aN♀) (1 - 1/aN♂ + 1/aN♀) which measures the fixation and loss of genes per generation, we see that the fixation or loss of genes is of about 7% in the more frequent species, and rarer species about 11%. The variation in size, tergite color, background color, etc, of Melipona marginata Lep. is atributed to this genetic drift. A detail, important to the survival of Meliponini species, is the Constance of their breeding population. This Constance is due to the social organization, i. e., to the care given to the reproductive individuals (the queen with its sperm pack), to the way of swarming, to the food storage intended to control variations of feeding supply, etc. 14) Some species of the Meliponini are adapted to various ecological conditions and inhabit large geographical areas (e. g. T. (Tetragonisca jaty F. SMITH), and Trigona (Nanno-trigona testaceicornis LEP.) while others are limited to narrow regions with special ecological conditions (e. g. M. fuscata me-lanoventer SCHWARZ). Other species still, within the same geographical region, profit different ecological conditions, as do M. marginata LEP. and M. quadrifasciata LEP. The geographical distribution of Melipona quadrifasciata LEP. is different according to the subspecies: a) subsp anthidio-des LEP. (represented in Fig. 7 by black squares) inhabits a region fron the North of the S. Paulo State to Northeastern Brazil, ,b) subspecies quadrifasciata LEP., (marked in Fig. 7 with black triangles) accurs from the South of S. Paulo State to the middle of the State of Rio Grande do Sul (South Brazil). In the margined region between these two areas of distribution, hi-brid colonies were found (Fig. 7, white circles); they are shown with more details in fig. 8, while the zone of hybridization is roughly indicated in fig. 9 (gray zone). The subspecies quadrifasciata LEP., has 4 complete yellow bands on the abdominal tergites while anthidioides LEP. has interrupted ones. This character is determined by one or two genes and gives different adaptative properties to the subspecies. Figs. 10 shows certains meteorological isoclines which have aproximately the same configuration as the limits of the hybrid zone, suggesting different climatic adaptabilities for both genotypes. The exis-tance of a border zone between the areas of both subspecies, where were found a high frequency of hybrids, is explained as follows: being each subspecies adapted to a special climatic zone, we may suppose a poor adaptation of either one in the border region, which is also a region of intermediate climatic conditions. Thus, the hybrids, having a combination of the parent qualities, will be best adapted to the transition zone. Thus, the hybrids will become heterotic and an equilibrium will be reached with all genotypes present in the population in the border region.

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The present morphological study of A. glabratus was based on the observation of shell, radula, renal region and genitalia of 50 specimens having a shell diameter of 18 mm. In this summary we record the data pertaining to the chracteristics that can be used in systematics. The numerals refere to the mean and their standard deviation; no special reference being made, they correspond to length measurements. Shell: 18 mm in diameter, 5.59 ± 0.24 mm in greatest width, 5 to 6 whorls. Right side umbilicated, left one weakly depressed. Last whorl about thrice as tall as the penultimate one at the aperture, the measurements being taken on the right side. Aperture perpendicular or a little oblique. Body, extended: 47.06 ± 3.31 mm. Renal tube: Narrow and elongated, 23.84 ± 1.90 mm, showing a pigmented ridge along its ventral surface. Ovotestis: 12.78 ± 1.50 mm. Mainly trifurcate diverticula attaching in fan-like manner to the collecting canal (this arrangement is seen to best advantage in the cephalic middle of the ovotestis). The collecting canal greatly swells at the cephalic end, narrowing suddenly as it leaves the ovotestis. Ovisperm duct: 13.70 ± 1.68 mm, including the non-unwound seminal vesicle. The latter, situated about 1 mm from the beginning af the ovisperm duct, was 1.14 ± 0.29 mm in greatest diameter, and is beset by numerous short diverticula. Sperm duct: 14.16 ± 1.27 mm, pursuing a sinous course along the oviduct. Prostate: Prostate duct 5.53 ± 0.74 mm, collecting a row of long diverticula, the latter 21.6 ± 3.5 in number. Last diverticulum generally simple or bifurcate, penultimate generally arborescent, bifurcate or simple, antepenultimate nearly always arborescent, the remaining ones arborescent. The arborescent diverticula frequently give off secondary branches. Vas deferens: 17.50 ± 2.05 mm. The ratio vas deferens/vergic sac was 4.7 ± 0.6. Verge: 3.70 ± 0.54 mm long, 0.12 ± 0.03 mm wide. Free end tapering to a point where the sperm canal opens. No penial stylet. Vergic sac: 3.77 ± 0.50 mm long, 0.19 ± 0.01 mm wide. The length ratio vergic sac/preputium was 1 ± 0.02. Preputium: Deeply pigmented, 3.79 ± 0.40 mm long, 0.89 ± 0.12 mm wide in the middle. Muscular diaphragm between it and the vergic sac. Two muscular pilasters along its lateral walls. Oviduct: 10.24 ± 1.29 mm, suddenly swollen at the cephalic end so that it forms a folded pouch capping the beginning of the uterus. Uterus: 10.58 ± 1.18 mm. Vagina: 2.06 ± 0.15 mm long, 0.32 ± 0.05 mm wide, showing a swelling at its caudal portion, just above the opening of the spermathecal duct. Spermatheca: 1.57 ± 0.41 mm long, 0.92 ± 0.23 mm wide. Spermathecal duct 1.15 ± 0.23 mm. Radula: 125 to 163 rows of teeth (mean 141.4 ± 9.8). Radula formula 27-1-27 to 34-1-34 (mean 30.9 ± 1.7).

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Particles morphologically identical to rotaviruses were found in the faeces of a nine week-old child with gastroenteritis. Analysis of the viral RNA genome by polyacrylamine gel electrophoresis revealed 10 bands (probably 11 segments) some of wich differed in migration rate from those of the great majority of rotaviruses infecting man and other animal hosts. The virus was not detected by a highly sensitive enzyme immunoassay (ELISA) and therefore probably lacked the crossreactive antigen(s) shared by the majority rotaviruses. This was the only strain with such behaviour among 230 rotaviruses of human origin examined in this laboratory since 1979. The implications of the existence of non-crossreactive rotaviruses are discussed.

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Mice infected with 30 cercariae of Schistosoma mansoni developed portal and septal fibrosis due to the massive and concentrated deposition of eggs in the periportal areas which occurred following the 16th week after infection. The lesion resembled pipe-stem fibrosis seen in human hepatosplenic schistosomiasis in the following characters: portal fibrosis interconnecting portal spaces as well as portal spaces and central canals; portal inflammation; periovular granulomas; vascular obstruction and telangiectasia. The liver parenchyma maintained its normal architecture. Vascular injection techniques with Indian ink and vinylite revealed that the portal system developed numerous dilated collateral venules coming from the large and medium-sized portal branches, about 10 weeks after schistosome infection. The lodging of schistosome eggs into these collaterals resulted in granulomatous inflammation and fibrosis along all the portal tracts, thus forming the pipe-stem lesion. Although not readily demonstrable grossly, the pipe-stem fibrosis of murine schistosomiasis has many similarities with the human lesion and can be considered to have the same basic pathogenesis.

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Investigations were carried out on the host parasitoid interaction between Periplaneta americana, the American cockroach and Tetrastichus hagenowii, an oothecal parasitoid. This gregarious female parasitoid infected and or oviposited in only one host and caused 100 por cento mortality of the infected host. However, increase in parasitoid density decreased the progeny production and influenced the sex ratio. The progenies produced were male biased. When host preference was tested by offering oothecae of different species of cockroaches, T. hagenowii showed a predilection towards the oothecae of P. americana, suggestings its host specificity.

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A cross-sectional study was conducted in order to identify hepatitis A virus (HAV) serological markers in 418 individuals (mean age, 16.4 years; range, 1 month-80 years) at a public child care center in Rio de Janeiro, Brazil, as well as to analyze risk factors and determine circulating genotypes. Serum samples were tested using an enzyme immunoassay. Reverse transcription polymerase chain reaction (RT-PCR) was used to detect and characterize HAV RNA, and sequencing was performed. Anti-HAV antibodies and IgM anti-HAV antibodies were detected, respectively, in 89.5% (374/418) and 10.5% (44/418) of the individuals tested. Acute HAV infection in children was independently correlated with crawling (p < 0.05). In 56.8% (25/44) of the IgM anti-HAV-positive individuals and in 33.3% (5/15) of the IgM anti-HAV-negative individuals presenting clinical symptoms, HAV RNA was detected. Phylogenetic analysis revealed co-circulation of subgenotypes IA and IB in 93.3% (28/30) of the amplified samples. In present study, we verify that 79% (30/38) of children IgM anti-HAV-positive were asymptomatic. In child care centers, this asymptomatic spread is a more serious problem, promoting the infection of young children, who rarely show signs of infection. Therefore, vaccinating children below the age of two might prevent the asymptomatic spread of hepatitis A.

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This study describes the genetic relationships of the first human astrovirus type-8 (HAstV-8) detected in Belém-Brazil, during a public hospital-based study. This strain was compared with other HAstV-8 strains identified elsewhere which have sequences available at GeneBank. The regions ORF1a (primers Mon348/Mon340) and ORF2 (primers Mon269/Mon270) were analyzed by nucleotide sequencing and a high similarity rate was observed among the Belém strain and other HAstV-8 strains. In ORF1a, homology values of 93-100% were detected, and in ORF2 96-99%. Considering the sequence variation (7%) observed in ORF2 region, it was suggested that HAstV-8 strains could be divided in three different lineages.

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Analysing human genetic variation provides a powerful tool in understanding risk factors for disease. Toxoplasma gondii acquired by the mother can be transmitted to the fetus. Infants with the most severe clinical signs in brain and eye are those infected early in pregnancy when fetal immunity is least well developed. Genetic analysis could provide unique insight into events in utero that are otherwise difficult to determine. We tested the hypothesis that propensity for T. gondii to cause eye disease is associated with genes previously implicated in congenital or juvenile onset ocular disease. Using mother-child pairs from Europe (EMSCOT) and child/parent trios from North America (NCCCTS), we demonstrated that ocular and brain disease in congenital toxoplasmosis associate with polymorphisms in ABCA4 encoding ATP-binding cassette transporter, subfamily A, member 4 previously associated with juvenile onset retinal dystrophies including Stargardt's disease. Polymorphisms at COL2A1 encoding type II collagen, previously associated with Stickler syndrome, associated only with ocular disease in congenital toxoplasmosis. Experimental studies showed that both ABCA4 and COL2A1 show isoform-specific epigenetic modifications consistent with imprinting, which provided an explanation for the patterns of inheritance observed. These genetic and epigenetic risk factors provide unique insight into molecular pathways in the pathogenesis of disease.

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Untreated acute toxoplasmosis among pregnant women can lead to serious sequelae among newborns, including neurological impairment and blindness. In Brazil, the risk of congenital toxoplasmosis (CTox) has not been fully evaluated. Our aim was to evaluate trends in acute toxoplasmosis prevalence from 1998-2005, the incidence of CTox and the rate of mother-to-child transmission (MTCT). A cross-sectional study was undertaken to dentify patients who fit the criteria for acute toxoplasmosis during pregnancy. Exposed newborns were included in a historical cohort, with a median follow-up time of 11 months, to establish definite diagnosis of CTox. Diagnoses for acute infection in pregnancy and CTox were based on European Research Network on Congenital Toxoplasmosis criteria. In 41,112 pregnant women, the prevalence of acute toxoplasmosis was 4.8/1,000 women. The birth prevalence of CTox was 0.6/1,000 newborns [95% confidence interval (CI): 0.4-0.9]. During the follow-up study, 12 additional cases were detected, increasing the CTox rate to 0.9/1,000 newborns (95% CI: 0.6-1.3). Among the 200 newborns exposed to Toxoplasma gondii,there were 37 babies presenting diagnostic criteria of CTox, leading to an MTCT rate of 18.5% (95% CI: 13.4-24.6%). The additional cases identified during follow-up reinforce the need for serological monitoring during the first year of life, even in the absence of evidence of congenital infection at birth.

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Lactotransferrin, also known as lactoferrin, is an iron binding glycoprotein that displays antiviral activity against many different infectious agents, including human immunodeficiency virus (HIV)-1. Lactotransferrin is present in the breast milk and in the female genitourinary mucosa and it has been hypothesised as a possible candidate to prevent mother-to-child HIV-1 transmission. To verify if two functional polymorphisms, Thr29Ala and Arg47Lys, in the lactotransferrin encoding gene (LTF) could affect HIV-1 infection and vertical transmission, a preliminary association study was performed in 238 HIV-1 positive and 99 HIV-1 negative children from Brazil, Italy, Africa and India. No statistically significant association for the Thr29Ala and Arg47Lys LTF polymorphisms and HIV-1 susceptibility in the studied populations was found. Additionally LTF polymorphisms frequencies were compared between the four different ethnic groups.

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There is increasing interest in the early years as a focus for reducing health inequalities as well as one that is important for the children themselves. This paper describes the introduction in England of Sure Start Local Programmes, which included home visiting within a community development approach, and an intensive home visiting programme, the Nurse-Family partnership, for disadvantaged teenage mothers. It reflects on changes and challenges in service provision to mothers and their pre-school children in England, explaining that a long tradition of home visiting was, paradoxically, reduced as attention focused on the newer initiatives. This is now being addressed, with attention to a range of evidence based programmes and a specific focus on heath visitor provision.

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This qualitative study analyzed, from the teacher’s perspective, if the principle of comprehensiveness is included in child healthcare teaching in nursing education. The participants were 16 teachers involved in teaching child healthcare in eight undergraduate nursing programs. Data collection was performed through interviews that were submitted to thematic content analysis. The theory in teaching incorporates comprehensive care, as it is based on children’s epidemiological profile, child healthcare policies and programs, and included interventions for the promotion/prevention/rehabilitation in primary health care, hospitals, daycare centers and preschools. The comprehensive conception of health-disease process allows for understanding the child within his/her family and community. However, a contradiction exists between what is proposed and what is practiced, because the teaching is fragmented, without any integration among disciplines, with theory dissociated from practice, and isolated practical teaching that compromises the incorporation of the principle of comprehensiveness in child healthcare teaching.

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Objective: Understanding the experiences of health professionals in primary care with the Child Health Booklet in child health care. Method: A qualitative study with a phenomenological approach, in which participated nurses and doctors from six teams of the Family Health Strategy (FHS) in Belo Horizonte, MG. In total, were carried out 12 non-directive interviews, using two guiding questions. Results: A comprehensive analysis of the speeches enabled the construction of three categories that signal the experiences of the professionals with the booklet. The experiments revealed difficulties arising from the limitations of knowledge about the instrument; incomplete filling out of the booklet by many professionals that care for children; the daily confrontations of the process and the organization of work teams; disinterest of families with the instrument. Conclusion: The research points possible and necessary ways to improve the use of booklets as an instrument of full child health surveillance.