RESUMO
BACKGROUND: Risky media use in terms of accumulating too much time in front of screens and usage before bedtime in early childhood is linked to developmental delays, reduced sleep quality, and unhealthy media use in later childhood and adulthood. For this reason, we examine patterns of media use in pre-school children and the extent to which child and family characteristics contribute to media use during the COVID-19 pandemic. METHODS: A cross-sectional study of digital media use by Canadian preschool-aged children (mean age = 3.45, N = 316) was conducted at the start of the COVID-19 pandemic between April and August of 2020. Parents completed a questionnaire and 24-h recall diary in the context of an ongoing study of child digital media use. From these responses we estimated hours of average daily screen time, screen time in the past 24 h, average daily mobile device use, and media use before bedtime. Parents also answered questions about their child (i.e., age, sex, temperament), family characteristics (parental mediation style, parental screen time, education, income), and contextual features of the pandemic (ex., remote work, shared childcare). Daycare closures were directly assessed using a government website. RESULTS: Our results indicate that 64% of preschoolers used more than 2 h of digital media hours/day on average during the pandemic. A majority (56%) of children were also exposed to media within the hour before bedtime. Logistic and multinomial regressions revealed that child age and temperament, restrictive parental mediation, as well as parent digital media use, education, satisfaction with the division of childcare, remote work, and number of siblings and family income were all correlates of risky digital media use by preschoolers. CONCLUSIONS: Our results suggest widespread risky media use by preschoolers during the pandemic. Parenting practices that include using more restrictive mediation strategies may foster benefits in regulating young children's screen time.
Assuntos
COVID-19 , Pandemias , Adulto , COVID-19/epidemiologia , COVID-19/prevenção & controle , Canadá/epidemiologia , Criança , Pré-Escolar , Estudos Transversais , Humanos , Internet , Poder Familiar , Pais , Tempo de TelaRESUMO
BACKGROUND: The non-communicable diseases are the major causes of death both worldwide and in high-income countries such as Norway. Understanding whether policy programs affect the health of older adults, especially considering different realities, is crucial. We aimed to analyse cardiometabolic risk factors associated with educational level in elderly people from Norway and Brazil. METHODS: A total of 555 elderly people recruited from Trondheim, Norway (n = 310, age 70.7 ± 0.8 years, body mass index (BMI) 26.2 ± 3.9 kg/m2) and from Ribeirao Preto, Brazil (n = 245, age 64.1 ± 8.1 years, BMI 28.2 ± 5.5 kg/m2). All analyses were adjusted for age and sex, considering country as an independent variable. The significance level considered was P < 0.05. RESULTS: Brazilian people presented a higher incidence of overweight and higher waist circumference (WC) compared to Norwegian (28.2 ± 5.5 kg/m2 and 97.0 ± 14.7 cm versus 26.4 ± 3.9 kg/m2 and 92.1 ± 11.2 cm, respectively). When classified by education level, Brazilians presented higher values for BMI, WC and triglycerides (TG) than Norwegians with the same level of education (incomplete higher education), while Norwegians presented higher values for systolic blood pressure (SBP), cholesterol total (CT), high-density lipoprotein (HDL)-cholesterol, LDL-cholesterol and handgrip strength. CONCLUSIONS: Both nationalities presented important cardiometabolic risk factors. However, when considering a low level of education, the Brazilian elderly people presented more cardiometabolic risk factors than Norwegians.
Assuntos
Fatores de Risco Cardiometabólico , Doenças Cardiovasculares , Idoso , Pressão Sanguínea , Índice de Massa Corporal , Brasil/epidemiologia , Doenças Cardiovasculares/epidemiologia , Doenças Cardiovasculares/etiologia , Estudos Transversais , Escolaridade , Força da Mão , Humanos , Pessoa de Meia-Idade , Noruega/epidemiologia , Fatores de Risco , Circunferência da CinturaRESUMO
The spreading of epidemics in complex networks has been a subject of renewed interest of several scientific branches. In this regard, we have focused our attention on the study of the susceptible-infected-susceptible (SIS) model, within a Monte Carlo numerical simulation approach, representing the spreading of epidemics in a clustered homophilic network. The competition between infection and recovery that drives the system either to an absorbing or to an active phase is analyzed. We estimate the static critical exponents ß ∕ ν , 1 ∕ ν and γ ∕ ν , through finite-size scaling (FSS) analysis of the order parameter ρ and its fluctuations, showing that they differ from those associated with the contact process on a scale-free network, as well as those predicted by the heterogeneous mean-field theory.
RESUMO
Opitz syndrome (OS, McKusick 145410) is a well described genetic syndrome affecting multiple organ systems whose cardinal manifestations include widely spaced eyes and hypospadias (Fig. 1). It was first reported as two separate entities, BBB syndrome, and G syndrome. However, subsequent reports of families in which the BBB and G syndrome segregated within a single kindred suggested that they were a single clinical entity. Although the original pedigrees were consistent with X-linked and autosomal dominant inheritance, male-to-male transmission in subsequent reports suggested that OS was inherited as an autosomal dominant trait. Here we report that OS is a heterogeneous disorder, with an X-linked and an autosomal locus. Three families were linked to DXS987 in Xp22, with a lod score of 3.53 at zero recombination. Five families were linked to D22S345 from chromosome 22q11.2, with a lod score of 3.53 at zero recombination. This represents the first classic multiple congenital anomaly syndrome with an X-linked and an autosomal form.
Assuntos
Anormalidades Múltiplas/genética , Cromossomos Humanos Par 22 , Heterogeneidade Genética , Hipertelorismo/genética , Cromossomo X , Pré-Escolar , Feminino , Ligação Genética , Humanos , Hipospadia/genética , Escore Lod , Masculino , Linhagem , SíndromeRESUMO
In pigs, the gut microbiota composition plays a major role in the process of digestion, but is influenced by many external factors, especially diet. To be used in breeding applications, genotype by diet interactions on microbiota composition have to be quantified, as well as their impact on genetic covariances with feed efficiency (FE) and digestive efficiency (DE) traits. This study aimed at determining the impact of an alternative diet on variance components of microbiota traits (genera and alpha diversity indices) and estimating genetic correlations between microbiota and efficiency traits for pigs fed a conventional (CO) or a high-fiber (HF) diet. Fecal microbes of 812 full-siblings fed a CO diet and 752 pigs fed the HF diet were characterized at 16 weeks of age by sequencing the V3-V4 region of the 16S rRNA gene. A total of 231 genera were identified. Digestibility coefficients of nitrogen, organic matter, and energy were predicted analyzing the same fecal samples with near infrared spectrometry. Daily feed intake, feed conversion ratio, residual feed intake and average daily gain (ADG) were also recorded. The 71 genera present in more than 20% of individuals were retained for genetic analyses. Heritability (h²) of microbiota traits were similar between diets (from null to 0.38â ±â 0.12 in the CO diet and to 0.39â ±â 0.12 in the HF diet). Only three out of the 24 genera and two alpha diversity indices with significant h² in both diets had genetic correlations across diets significantly different from 0.99 (Pâ <â 0.05), indicating limited genetic by diet interactions for these traits. When both diets were analyzed jointly, 59 genera had h² significantly different from zero. Based on the genetic correlations between these genera and ADG, FE, and DE traits, three groups of genera could be identified. A group of 29 genera had abundances favorably correlated with DE and FE traits, 14 genera were unfavorably correlated with DE traits, and the last group of 16 genera had abundances with correlations close to zero with production traits. However, genera abundances favorably correlated with DE and FE traits were unfavorably correlated with ADG, and vice versa. Alpha diversity indices had correlation patterns similar to the first group. In the end, genetic by diet interactions on gut microbiota composition of growing pigs were limited in this study. Based on this study, microbiota-based traits could be used as proxies to improve FE and DE in growing pigs.
The link between the composition of the gut microbiota, i.e the composition of microorganisms in the gut, in pigs and their feed efficiency, i.e. their ability to utilize nutrients, as well as their ability to digest were studied from a genetic point of view. A family structure of 1,564 pigs were studied and fed with two different diets. One of the full-sib was fed a conventional diet used in breeding farms and the other one an alternative diet containing raw materials, less expensive but with a higher content of dietary fibers more difficult to digest. This study has shown that some microbiota microorganisms were genetically correlated with feed and digestive efficiency performances, positively or negatively, depending on the microorganisms. In addition, the diversity of microorganisms in the animal's gut was favorably correlated with the feed and digestive performances studied. Therefore, there is a genetic link between these performances and the composition of the animal's gut microbiota. Thus, a potential genetic selection on some intestinal microorganisms or diversity of microorganisms would allow to improve these performances, and in particular when pigs are fed with diet more difficult to digest.
Assuntos
Microbioma Gastrointestinal , Ração Animal/análise , Animais , Dieta/veterinária , Fezes , RNA Ribossômico 16S/genética , Suínos/genéticaRESUMO
The reliability of four lactate threshold (LT) methods to estimate the maximal lactate steady state (MLSS), defined as the highest intensity that can be maintained without plasma lactate ([La-]) accumulation over time, was determined in Beagle dogs. Six male Beagle dogs performed a standardized incremental exercise test on a treadmill when plasma lactate ([La-]) measurements were performed. The LTs for predicting MLSS, were determined by visual inspection (LTV), using a bi-segmented linear regression model (LTBI), or using a polynomial function on the [La-]/velocity ratio (LTP) by considering the vertices of the curve and calculating the point that yields the maximal distance from a curve representing [La-] as a function of velocity to the line formed by the two endpoints of the curve (LTDMAX method). The agreement was assessed using Bland-Altman plots and ordinary least products (OLP) regression among the velocities corresponding to the LTs identified using different methods (VLTv, VLTBI, VLTP, and VLTDMAX) and the velocity corresponding to the MLSS (VMLSS). A principal component (PC) analysis approach was performed to detect the degree of co-relatedness among the variables. The mean ± SD [La-] at MLSS was 1.03 ± 0.24 mM. VMLSS had a lower mean bias with VLTv, followed by VLTBI. The VLTDMAX underestimated MLSS. VLTv and VLTBI had the lowest limits of agreement with the VMLSS. The VLTP and VLTDMAX showed relatively high limits of agreement with MLSS. VLTv, VLTBI, and VMLSS had more collinearity and were dominantly aligned with the second component (PC2). VLTv and VLTBI can be used as simple methods to objectively determine aerobic fitness in Beagle dogs.
Assuntos
Teste de Esforço , Ácido Láctico , Cães , Masculino , Animais , Teste de Esforço/veterinária , Reprodutibilidade dos Testes , Modelos LinearesRESUMO
AIM: This study aimed to assess the effectiveness of the group Reminiscence Therapy (RT) on cognition, depressive symptoms, and quality of life (QOL) in older adults recruited in nursing homes. METHODS: A pilot study with a one-group pretest-posttest design was conducted between September 2017 and March 2018 in five nursing homes from central Portugal. A comprehensive RT program (Core program followed by a Follow-up program) was provided to clinically stable volunteers aged 65 years or more, who did not have severe cognitive impairment. RESULTS: From the 50 older adults (32 women and 18 men, with mean age of 83.32±7.76, and mean education level of 5.48±4.05) considered eligible to participate in the study, 35 (mean age: 84.17±7.46, mean education level of 6.14±4.49) completed the Core Program and 28 completed the Follow-up Program (mean age: 84.25±7.66, mean education level of 6.18±4.57). Based on the Wilcoxon Test, it was observed that the participants' cognitive performance did not change during the two RT programs. No significant changes were confirmed in relation to depressive symptomatology and QOL. CONCLUSION: Although no statistically significant improvements of the older adults' cognitive function, depressive symptomatology, and quality of life were found, the stabilization of such outcomes are relevant from a clinical viewpoint. Further studies are necessary to confirm these findings.
RESUMO
INTRODUCTION: Decubitus ulcers of the sacral region are common conditions in bedridden patients. Deep lesions (Stages III and IV) often require surgical treatment for closure. Flaps of the region are the first choice for treatment. We present our experience in the treatment of these lesions and compare two different approaches: local fasciocutaneous flap and gluteus maximus myocutaneous flap with V-Y advancement. METHOD: From March 2009 to May 2014, 32 patients underwent closure of sacral pressure ulcers by flaps, 17 of them with rotational local fasciocutaneous flaps and 15 with myocutaneous flaps of the gluteus maximus muscle with V-Y advancement. Evolution regarding complications and rate of success after two months was compared between the groups. RESULTS: Out of the 32 operated patients we obtained resolution of lesions after two months in 23 (71.8%), 10 patients in the fasciocutaneous flap group (58.8%) and 13 cases in the myocutaneous flap group (86.6%). The most common complication was partial dehiscence of sutures in 12 patients (37.5%), 8 patients in the fasciocutaneous flap group (47%) and 4 patients in the myocutaneous flap group (26.6%). The group of patients reconstructed with local fasciocutaneous flaps presented 3 cases with seroma, one with hematoma and 6 with partial cutaneous necrosis; these patients also required more drainage time. CONCLUSIONS: Both the local rotational fasciocutaneous flap and the myocutaneous flap of the gluteus maximus muscle in V-Y flap can be used in the surgical treatment of sacral ulcers. In our experience, a reduced success rate and more complications were found in the local fasciocutaneous reconstructive method.
RESUMO
Amphiphilic detergent-soluble acetylcholinesterase (AChE) from Torpedo is converted to a hydrophilic form by digestion with phospholipase C from Trypanosoma brucei or from Bacillus cereus. This lipase digestion uncovers an immunological determinant which crossreacts with a complex carbohydrate structure present in the hydrophilic form of all variant surface glycoproteins (VSG) of T. brucei. This crossreacting determinant is also detected in human erythrocyte AChE after digestion with T. brucei lipase. From these results we conclude that the glycophospholipid anchors of protozoan VSG and of AChE of the two vertebrates share common structural features, suggesting that this novel type of membrane anchor has been conserved during evolution.
Assuntos
Acetilcolinesterase/imunologia , Antígenos de Protozoários/análise , Epitopos/análise , Membrana Eritrocítica/enzimologia , Glicoproteínas/imunologia , Trypanosoma brucei brucei/imunologia , Fosfolipases Tipo C , Acetilcolinesterase/metabolismo , Animais , Bacillus cereus/enzimologia , Membrana Celular/enzimologia , Órgão Elétrico/enzimologia , Glicosilfosfatidilinositol Diacilglicerol-Liase , Humanos , Cinética , Fosfolipases/metabolismo , Torpedo , Trypanosoma brucei brucei/enzimologia , Glicoproteínas Variantes de Superfície de TrypanosomaRESUMO
We searched for the presence of glycophosphatidylinositol (GPI)-anchored proteins in epimastigotes and metacyclic trypomastigotes of Trypanosoma cruzi, by treatment of parasite lysates with the GPI-specific phospholipase C of Trypanosoma brucei. Upon treatment, several proteins (70-90 kDa) in metacyclics, but none in epimastigotes, reacted with antibodies to the cross-reacting determinant (CRD), an epitope revealed on the variant surface glycoproteins of T. brucei following removal of the diacylglycerol moiety from their GPI-anchor. Since these T. cruzi metacyclic proteins also lost their original amphiphilicity, as judged by Triton X-114 phase separation, it is very likely that they are linked to the membrane by GPI. One of these proteins is the 90 kDa protein, the major surface protein of G and Tulahuen strains, recognized by the monoclonal antibody 1G7. A variable portion of the 90 kDa molecules was resistant to solubilization by T. brucei lipase. The reasons for this are not clear but susceptibility appeared to increase with the age of the T. cruzi culture. Enzymes that solubilize GPI-anchored proteins were detected in epimastigotes and metacyclics, but the enzymatic activity in these forms was smaller than the activity detected in the same cell numbers of trypomastigotes of T. cruzi originated from infected mammalian cells or from T. brucei bloodstream forms. A preliminary characterization of these activities indicates that at least two classes of enzymes, one of them inhibited by o-phenanthroline, are present in epimastigotes and metacyclics. None of the reagents tested fully inhibited the phospholipases.
Assuntos
Glicolipídeos/metabolismo , Proteínas de Membrana/análise , Fosfatidilinositóis/metabolismo , Trypanosoma cruzi/análise , Animais , Anticorpos Monoclonais/imunologia , Reações Cruzadas , Epitopos/imunologia , Glicosilfosfatidilinositóis , Imunoensaio , Proteínas de Membrana/metabolismo , Trypanosoma brucei brucei/enzimologia , Trypanosoma cruzi/imunologia , Fosfolipases Tipo C/metabolismoRESUMO
The variant surface glycoproteins (VSGs) of both metacyclic and bloodstream forms of Trypanosoma congolense are shown to be anchored to the plasma membrane through a glycolipid similar to that found in Trypanosoma brucei. Release of soluble VSG from both metacyclic and bloodstream forms is associated with the exposure of an antigenic determinant homologous to the cross-reacting determinant of T. brucei VSGs. Release of soluble VSG of T. congolense can be achieved by lysates of both bloodstream and metacyclic forms of T. congolense, by lysates of T. brucei bloodstream forms, but not by lysates of procyclic forms.
Assuntos
Glicolipídeos/metabolismo , Glicoproteínas/metabolismo , Proteínas de Membrana/metabolismo , Trypanosoma congolense/metabolismo , Animais , Antígenos de Protozoários/análise , Autorradiografia , Membrana Celular/metabolismo , Reações Cruzadas , Eletroforese em Gel de Poliacrilamida , Epitopos/imunologia , Técnicas Imunológicas , Trypanosoma congolense/imunologia , Glicoproteínas Variantes de Superfície de TrypanosomaRESUMO
The 90-kDa stage-specific 1G7-antigen has been implicated in the invasion of host cells by the metacyclic forms of Trypanosoma cruzi. The antigen is attached to the plasma membrane via glycosylphosphatidylinositol, the partial structure of which was the first to be determined for a protein of this parasite. In this study, the complete structure of the lipid component of the anchor was determined by electrospray mass spectrometry, gas chromatography mass spectrometry, phospholipase sensitivity and high-performance thin-layer chromatography of the diaradylglycerol components after benzoylation. These analyses showed that the lipid moiety of 1G7-antigen is composed essentially of 1-O-hexadecyl-2-O-hexadecanoyl-phosphatidylinositol and 1-O-hexadecyl-2-O-octadecanoyl-phosphatidylinositol. The high sensitivity of the electrospray mass spectrometric analysis unexpectedly revealed the presence of a small proportion of putative inositol-phosphoceramide structures, and confirmed the absence of inositol-acylated species. An interesting finding was that the biosynthetic incorporation of [3H]palmitate labelled solely the acyl position, and not the 1-O-alkyl chain in the 1G7-antigen anchor.
Assuntos
Antígenos de Protozoários/química , Glicosilfosfatidilinositóis/química , Trypanosoma cruzi/química , Animais , Sequência de Carboidratos , Cromatografia Líquida de Alta Pressão , Lipídeos/química , Espectrometria de Massas , Dados de Sequência Molecular , Palmitatos/análise , Trypanosoma cruzi/crescimento & desenvolvimento , Trypanosoma cruzi/imunologiaRESUMO
We have previously shown that 35- and 50-kDa glycoconjugates of cultured metacyclic trypomastigotes participate in the attachment of parasites to mammalian cells. Here we show that when metacyclic trypomastigotes are incubated with [3H]sialyllactose, most of the sialic acid is transferred to these 35/50-kDa molecules in a reaction catalyzed by a parasite transsialidase. The sialic acid is incorporated in oligosaccharides of about 10 glucose units in size that are released from the glycoconjugate by mild alkaline hydrolysis. Compositional analysis reveals that the 35/50-kDa molecules are highly glycosylated proteins rich in threonine, galactose, N-acetyl-glucosamine and sialic acid. These glycoproteins can be labeled in vivo with [3H]palmitate, and the labeled fatty acid is released by glycosylphosphatidylinositol specific phospholipases C. This result, associated with the fact that they contain mannose, ethanolamine, myo-inositol, and lipid, indicate that these glycoproteins are anchored to the membrane by glycosylphosphatidylinositol. During cell invasion, these molecules appear to be capped and locally released by the parasite.
Assuntos
Glicoproteínas/metabolismo , Glicosilfosfatidilinositóis/metabolismo , Neuraminidase/metabolismo , Proteínas de Protozoários/metabolismo , Ácidos Siálicos/metabolismo , Trypanosoma cruzi/enzimologia , Aminoácidos/análise , Animais , Antígenos de Protozoários/biossíntese , Antígenos de Protozoários/isolamento & purificação , Glicoproteínas/isolamento & purificação , Células HeLa , Humanos , Mucinas/metabolismo , Ácido N-Acetilneuramínico , Proteínas de Protozoários/isolamento & purificação , Trítio , Trypanosoma cruzi/fisiologiaRESUMO
The technique of phase separation in a solution of the non-ionic detergent Triton X-114 was used to measure the enzymatic conversion of a membrane protein to a soluble product via removal of a hydrophobic moiety. The substrate was the major surface protein (p63), of Leishmania promastigotes and the enzyme was a phospholipase C purified from Trypanosoma brucei. This membrane-bound enzyme is responsible for the cleavage of the hydrophobic lipid membrane anchor of the variant surface glycoprotein (VSG), of T. brucei. The assay is fast, simple and uses small amounts of reagents. It has been used to determine the pH optimum, thermal resistance, and the sensitivity to inhibitors of the trypanosomal phospholipase.
Assuntos
Proteínas de Membrana/metabolismo , Trypanosoma brucei brucei/enzimologia , Fosfolipases Tipo C/metabolismo , Animais , Concentração de Íons de Hidrogênio , Cinética , Leishmania tropica , Octoxinol , Polietilenoglicóis , Especificidade por Substrato , Temperatura , Fosfolipases Tipo C/antagonistas & inibidoresRESUMO
The experiments described in this paper were designed to try and isolate a recombinant DNA clone encoding a Trypanosoma cruzi homologue of the Trypanosoma brucei glycosylphosphatidylinositol-specific phospholipase C (GPI-PLC) gene. Despite the ready biochemical detection of phospholipase C activities that hydrolyse GPI-anchors of cell surface proteins in T. cruzi, it did not prove possible to isolate any recombinant DNA clones using the T. brucei gpi-plc gene as a probe. On determining the DNA sequence to the 5' side of the gpi-plc gene it was found to be adjacent to a gene that encodes a 100 kDa heat shock protein (HSP100). To investigate whether this linkage between the hspl00 and gpi-plc genes was conserved in T. cruzi, a probe derived from the T. brucei hsp100 gene was used to isolate T. cruzi genomic clones. These were partially sequenced and shown to contain an hsp100 gene. Restriction enzyme fragments located to the 3' side of the T. cruzi hsp100 gene were then sequenced and found to contain a gene that encodes a polypeptide (TcPLC1) that has 46% amino acid sequence identity with the T. brucei GPI-PLC including most of the key residues involved in inositol binding and the catalytic histidine. A recombinant form of TcPLC1 was produced and shown to possess phospholipase C activity towards a GPI-substrate. Thus, the hsp100 and gpi-plc genes are adjacent in T. brucei and this linkage is conserved in T. cruzi. This observation has been used to facilitate the isolation of a clone encoding a T. cruzi phospholipase C gene.
Assuntos
Ligação Genética , Proteínas de Choque Térmico/genética , Trypanosoma brucei brucei/genética , Trypanosoma cruzi/genética , Fosfolipases Tipo C/genética , Sequência de Aminoácidos , Animais , Sequência de Bases , Cromatografia Líquida de Alta Pressão , Clonagem Molecular , Sondas de DNA , Eletroforese em Gel de Poliacrilamida , Fluorometria , Genes de Protozoários , Glicosilfosfatidilinositol Diacilglicerol-Liase , Dados de Sequência Molecular , Fosfatidilinositol Diacilglicerol-Liase , Reação em Cadeia da Polimerase , Proteínas Recombinantes/análise , Homologia de Sequência de Aminoácidos , Especificidade por Substrato , Trypanosoma brucei brucei/enzimologia , Trypanosoma cruzi/enzimologiaRESUMO
We report on 3 unrelated Brazilian patients with shortness of stature, hypertelorism, eye anomalies, facial clefting, hearing loss, urogenital abnormalities, omphalocele, "caudal appendage," and mental retardation. Two patients were born to normal and non-consanguineous parents and one was born to consanguineous (first cousin) parents (F = 1/16). The similarity of our patients with those previously reported by Malpuech et al. [Am J Med Genet 16:475-480, 1983] led us to suggest that they have the same condition.
Assuntos
Anormalidades Múltiplas/fisiopatologia , Deficiência Intelectual/fisiopatologia , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/patologia , Adulto , Brasil , Criança , Pré-Escolar , Consanguinidade , Diagnóstico Diferencial , Feminino , Humanos , Lactente , Deficiência Intelectual/genética , Deficiência Intelectual/patologia , Masculino , SíndromeRESUMO
We report on 2 unrelated Brazilian girls, born to nonconsanguineous parents, and presenting structural central nervous system defects, hydrocephaly, macrocephaly, craniosynostosis, prominent forehead, anophthalmia, and abnormal nares. These patients may have a previously undescribed recurrent-pattern cerebro-oculo-nasal syndrome.
Assuntos
Anoftalmia/genética , Encéfalo/anormalidades , Deficiência Intelectual/genética , Nariz/anormalidades , Anormalidades Múltiplas/genética , Brasil , Ventrículos Cerebrais/anormalidades , Pré-Escolar , Feminino , Humanos , Lactente , Fenótipo , Síndrome , Anormalidades Dentárias/genéticaRESUMO
The syndrome: We describe 3 Brazilian brothers presenting a cluster of signs strongly suggesting a "new" MCA/MR syndrome. The main clinical signs include short stature, microbrachycephaly, mental retardation, palpebral ptosis, coloboma of iris and retina, nystagmus, strabismus, and cleft lip/palate. This is either an autosomal or X-linked recessive trait.
Assuntos
Anormalidades Múltiplas/genética , Nanismo/genética , Genes Recessivos/genética , Ligação Genética/genética , Cromossomo X , Adolescente , Adulto , Fenda Labial/genética , Fissura Palatina/genética , Anormalidades do Olho/genética , Humanos , Deficiência Intelectual/genética , Masculino , Linhagem , SíndromeRESUMO
We report on a Brazilian boy (F = 1/16) born to consanguineous parents and presenting with typical Aarskog syndrome. Genetic aspects and phenotypic manifestations of this patient are compared with those of the (X-linked) Aarskog syndrome and with the autosomal recessive faciodigitogenital syndrome.
Assuntos
Anormalidades Múltiplas/genética , Consanguinidade , Adolescente , Ossos Faciais/anormalidades , Deformidades Congênitas do Pé/genética , Genes Recessivos/genética , Genitália Masculina/anormalidades , Deformidades Congênitas da Mão/genética , Humanos , Masculino , SíndromeRESUMO
We report on a Brazilian child with postaxial acrofacial dysostosis (AFD)-type Genée-Wiedemann. Clinical and genetic aspects of the postaxial acrofacial dysostoses are discussed.