RESUMO
The association of marfanoid habitus (MH) and intellectual disability (ID) has been reported in the literature, with overlapping presentations and genetic heterogeneity. A hundred patients (71 males and 29 females) with a MH and ID were recruited. Custom-designed 244K array-CGH (Agilent®; Agilent Technologies Inc., Santa Clara, CA) and MED12, ZDHHC9, UPF3B, FBN1, TGFBR1 and TGFBR2 sequencing analyses were performed. Eighty patients could be classified as isolated MH and ID: 12 chromosomal imbalances, 1 FBN1 mutation and 1 possibly pathogenic MED12 mutation were found (17%). Twenty patients could be classified as ID with other extra-skeletal features of the Marfan syndrome (MFS) spectrum: 4 pathogenic FBN1 mutations and 4 chromosomal imbalances were found (2 patients with both FBN1 mutation and chromosomal rearrangement) (29%). These results suggest either that there are more loci with genes yet to be discovered or that MH can also be a relatively non-specific feature of patients with ID. The search for aortic complications is mandatory even if MH is associated with ID since FBN1 mutations or rearrangements were found in some patients. The excess of males is in favour of the involvement of other X-linked genes. Although it was impossible to make a diagnosis in 80% of patients, these results will improve genetic counselling in families.
Assuntos
Testes Genéticos/métodos , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética , Síndrome de Marfan/diagnóstico , Síndrome de Marfan/genética , Adolescente , Adulto , Criança , Pré-Escolar , Hibridização Genômica Comparativa , Análise Citogenética , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Estudos Prospectivos , Análise de Sequência de DNA , Inativação do Cromossomo X , Adulto JovemRESUMO
In New Caledonia, Wallis and Futuna, and French Polynesia, an active surveillance system was established to monitor pneumococcal serotype prevalence between 2000 and 2007. The most prevalent serotype was serotype 1, which belonged to the major clonal complex sequence type 306 (ST306) and was responsible for invasive pneumococcal disease outbreaks.
Assuntos
Surtos de Doenças , Infecções Pneumocócicas/epidemiologia , Infecções Pneumocócicas/microbiologia , Streptococcus pneumoniae/classificação , Streptococcus pneumoniae/isolamento & purificação , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Técnicas de Tipagem Bacteriana , Criança , Pré-Escolar , Impressões Digitais de DNA , Feminino , Genótipo , Humanos , Lactente , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Nova Caledônia/epidemiologia , Polinésia/epidemiologia , Prevalência , Sorotipagem , Streptococcus pneumoniae/genética , Streptococcus pneumoniae/imunologia , Adulto JovemRESUMO
The effect of supplementation on growth was tested by means of four similar controlled randomized trials in the Congo (n = 120), Senegal (n = 110), Bolivia (n = 127), and New Caledonia (n = 90). Four-month-old infants were randomly allocated to supplement or control groups. A cereal-based precooked porridge was offered twice daily for 3 mo and consumption was monitored. Both groups were free to eat local food. At 7 mo of age, all infants were still breast-fed in the Congo, Senegal, and Bolivia compared with 47% in New Caledonia. Mean daily consumption of the supplement varied among countries (558-790 kJ/d). Mean length at 4 mo was lowest in Bolivia, higher in Senegal and the Congo, and near the National Center for Health Statistics reference in New Caledonia. The mean 4-7 mo length increment was 0.48 cm higher for supplemented than for control infants in Senegal (P < 0.05), whereas weight increments did not differ. No significant effect was found in the other countries.
PIP: Findings from this study of the link between nutritional supplementation during breast feeding and infant growth disagree with earlier studies. The effect of nutritional supplementation on growth in length was only modest, but significant only in Senegal and not significant in the Congo, Bolivia, and New Caledonia. It is hypothesized that food supplementation during the 4-7 month period would have a positive effect on linear growth. This study included four controlled randomized trials among 120 infants in the Congo, 110 infants in Senegal, 127 infants in Bolivia, and 90 infants in New Caledonia. The infants were 4 months old when placed in the supplement or control groups. Supplementation included the addition of a cereal-based precooked porridge twice daily for 3 months. Both groups continued to eat local foods. Breast feeding patterns were different in New Caledonia, where only 47% of infants were still breast fed at 7 months of age. Mean daily supplementation varied among countries, from 558 to 790 kJ/day. Mean length was lowest in Bolivia, higher in Senegal and the Congo, and close to the US National Center for Health Statistics reference measures in New Caledonia. The study was conducted in rural parts of Senegal and New Caledonia and periurban parts of Bolivia and the Congo. Supplementation was supervised by field workers. The samples included infants with a length-for-age score of -2.5 or higher and a weight-for-length Z score of -2 or higher at 4 months. Anthropometric measurements were taken at 4 months and 4, 8, and 13 weeks later (at 4.9, 5.8, and 7.0 months of age). 24-hour food recalls were collected monthly for consumption of breast milk, special local infant food, commercial "western" baby food, milk substitutes, family food, water, and other than milk liquids.
Assuntos
Países em Desenvolvimento , Grão Comestível , Crescimento , Alimentos Infantis , Fenômenos Fisiológicos da Nutrição do Lactente , Estatura/fisiologia , Bolívia , Aleitamento Materno , Congo , Feminino , Alimentos Fortificados , Humanos , Lactente , Masculino , Nova Caledônia , Senegal , Aumento de Peso/fisiologiaRESUMO
UNLABELLED: Perforated gastric ulcer is unusual in children. We report a case in a girl with an unexpected evolution. CASE REPORT: A 13-year-old girl was admitted for abdominal pain. She had no particular personal history but her father had a perforated ulcer. On admission she was not painful, her abdomen was soft on palpation. The white blood cell count was 1.7 x 10(3)/mm3. A right pneumoperitoneum was seen on an abdominal X-ray film. Because of her good general status and the normalization of the abdominal X ray film six hours later, no surgical exploration was performed. On the fourth day, a gastrointestinal endoscopy showed an anterior gastric ulcer which was perforated. Biopsies did not isolate H. pylori. The patient was given a treatment with amoxicillin-metronidazole (7 d) and oméprazole (7 weeks). An endoscopic control, one month later, showed a total healing of the gastric ulcer. CONCLUSION: Peptic ulcerations and their complications are underdiagnosed in childhood. This could lead to delay in diagnosis or inappropriate treatment specially in case of perforation.
Assuntos
Úlcera Péptica Perfurada/patologia , Úlcera Gástrica/complicações , Adolescente , Antiulcerosos/uso terapêutico , Endoscopia Gastrointestinal , Feminino , Humanos , Úlcera Péptica Perfurada/tratamento farmacológico , Pneumoperitônio/etiologia , Úlcera Gástrica/tratamento farmacológico , Resultado do TratamentoRESUMO
UNLABELLED: Cat-scratch disease is a frequent but innocuous cause of chronic lymphadenopathy in children. Numerous atypical forms have been described. We report three cases of acute sight impairment revealing a cat-scratch disease. BACKGROUND: A 13 year-old boy and two girls aged 10 and 13 suffered from a sudden bilateral sight impairment with papillary edema, with fever in two cases. Neurological examinations, X-rays and lumbar puncture results were found normal. However, all patients were tested positive to Bartonella Henselae. Antibiotic and anti-inflammatory treatments were efficient in two cases. CONCLUSION: Cat-scratch disease can be characterized by an isolated and acute sight impairment with a stellate neuroretinitis. The potency of antibiotic treatments is debatable.
Assuntos
Doença da Arranhadura de Gato/diagnóstico , Doenças Linfáticas/microbiologia , Adolescente , Adulto , Antibacterianos , Doença da Arranhadura de Gato/tratamento farmacológico , Criança , Quimioterapia Combinada/uso terapêutico , Humanos , Doenças Linfáticas/tratamento farmacológicoRESUMO
UNLABELLED: Hepatic abscesses in childhood are rarely observed in Europe. The aim of this word was to study how to diagnose and how to treat an hepatic abscess. METHODS: Between 1985 and 2003, we recensed retrospectively 33 cases of hepatic abscesses hospitalised in the paediatric unit of Noumea. RESULTS: Children were mainly melanesians (79%), 7 years old on average, having abdominal pains, a clinical and biological infectious syndrome, and abscesses images on ultrasonography or computed tomography. The identified micro-organisms included Entamoeba histolytica in 30% (10 cases); Staphylococcus aureus in 15% (five cases), Staphylococcus coagulase negative in 6% (two cases), Streptococcus D in 3% (one case); Bartonella henselae in 9% (three cases); ascaris in 6% (two cases); Mycobacterium tuberculosis in 6% (two cases). In eight cases no bacteria was identified (24%) but the good evolution after antibiotics and the negative amoebic serology looked like pyogenic abscesses. Two abscesses were aspirated, two were drained, one child had a surgical intervention. There was no death. Following a mean duration of 1 month for antibiotics treatment, outcome was always favourable. CONCLUSION: Diagnosis of hepatic abscess can be difficult. Ultrasonography shows the abscess but not the causal agent. The amoebic serology is sensible, consequently, its negativity leads to evoke a pyogenic agent. Early antibiotic treatment against pyogenic, anaerobic bacteria, and Entamoeba histolytica is required. Hepatic abscesses in ascaridiosis, tuberculosis and cat-scratch disease are less frequently encountered. If diagnosis remains doubtful or clinical evolution worsens, or if abscess volume increases, a percutaneous aspiration or drainage is needed.
Assuntos
Abscesso Hepático , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Abscesso Hepático/diagnóstico , Abscesso Hepático/epidemiologia , Abscesso Hepático/terapia , Masculino , Estudos Retrospectivos , Fatores de RiscoRESUMO
In developed countries, Hansen disease, or leprosy, is a rare and little-known disease. Over the last few years, its prevalence in New Caledonia has remained stable (0.35 per 10,000 inhabitants). We report the case of an 11-year-old child who presented lepromatous leprosy complicated by a type 2 reaction. Despite appropriate treatment, the course was unusual with fever lasting a few weeks associated with asthenia, weight loss, and biological perturbations such as inflammatory syndrome, anemia, and hyperferritinemia. After a brief review of Hansen disease and its complications, we discuss the different hypotheses that can explain the clinical and biological progression of our patient (hemolytic anemia secondary to dapsone, type 2 reaction, and aspects of hemophagocytic syndrome) and describe therapeutic management, which led to a good outcome.
Assuntos
Eritema Nodoso/diagnóstico , Hanseníase Virchowiana/diagnóstico , Anemia Hemolítica/induzido quimicamente , Criança , Dapsona/efeitos adversos , Dapsona/uso terapêutico , Progressão da Doença , Quimioterapia Combinada , Eritema Nodoso/tratamento farmacológico , Feminino , Hemoglobinometria , Humanos , Hansenostáticos/efeitos adversos , Hansenostáticos/uso terapêutico , Hanseníase Virchowiana/tratamento farmacológico , Linfo-Histiocitose Hemofagocítica/diagnóstico , Nova Caledônia , Fatores de RiscoRESUMO
INTRODUCTION: New Caledonia is situated in the western South Pacific 20000 km from France. In this Overseas Territory (pays d'outre-mer [POM]) the prevalence of tobacco smoking is very high and estimated at 30% among men and 34% among women. Experimenting with cannabis is also very widespread. The incidence of chronic respiratory illness and lung cancer remains high in the Territory. Modern laws protecting non-smokers still do not exist. This study aims at describing the behaviour of young people from 14 to 18 years old, at school in the public sector of Noumea, with respect to tobacco and marijuana consumption. This survey examines the way this behaviour varies according to age, sex, community, place of residence and socioeconomic conditions, in order to identify the most exposed groups. Finally, we study the effect of this consumption on the respiratory health of young school people. METHODS: The enquiry was undertaken from May 4th to 15th 2009 in 16 classes drawn randomly from the colleges and secondary schools of Noumea (439 pupils). The survey consisted of an anonymous questionnaire containing 48 questions grouped into five subjects: a sociodemographic description of the subject and his/her family, the family lifestyle, tobacco consumption, marijuana consumption and a respiratory questionnaire. The completion of the questionnaires took, on average, 25 minutes and took place in class in the presence of the doctor undertaking the survey. The data were analysed with Ethnos-4 software. The analysis was made in two stages: a descriptive study after uni- and bivariate analysis and an analytical study to identify the risk factors of the addictive practices. The statistical tests used were Pearson's chi(2) test and the Hosmer-Lemeshow test for calculation of odds ratio. RESULTS: The participation rate was 95.2% (n = 415). The sample was predominantly female (56.6%) and 31% of the pupils were less than 16 years old. The number of tobacco smokers was considerable at 41.1%, 27.3% were regular daily smokers including 38.5% who smoked more than six cigarettes a day. The results were dependent on sex (female predominence) but independent of ethnic origin and socioeconomic factors. The number of cannabis smokers was 48% among whom 32% were regular consumers. The daily smokers were uniquely boys and the custom was more frequent among the Melanesian population. Only 11% of the pupils were worried about their consumption and, among them, only the regular smokers were more at risk of bronchial infection. CONCLUSIONS: In New Caledonia, tobacco consumption levels are higher than those in developed countries. We did not find a falling trend compared with previous data. The use of cannabis remains very widespread at an early age, with a male predominance for daily consumption. For both, these addictions the perception of the risk and the desire to stop are weak. The population studied is representative of teenagers in the public sector schools in Grand-Noumea but probably does not reflect the situation on the whole territory. The results obtained suggest the value of a study of the whole of New Caledonia, the eventual purpose being to guide the public health authorities towards policies that help the young people of the country.