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1.
BMJ Case Rep ; 17(1)2024 Jan 08.
Artigo em Inglês | MEDLINE | ID: mdl-38191230

RESUMO

We report on two children who had presented in a poor clinical state after an initial bout of cough, sore throat and fever for a few days. Both of them had multisystemic involvement with fluid-refractory septic shock requiring ionotropic support, intubation and care in the paediatric intensive care unit. Recent significant rise in scarlet fever has led to a significant increase in the number of invasive group A streptococcal infections with increased mortality in paediatric patients. Both of them had co-infection with influenza, which could have led to an increased risk of invasive group A streptococcal (iGAS) infection. After prompt treatment, including early initiation of antibiotics, they both recovered well. To our knowledge, there are no reported cases of iGAS infection from the UK in any medical journal though the fatal cases have been reported to the health statistics department by various National Health Service trusts individually.


Assuntos
Coinfecção , Infecções Estreptocócicas , Humanos , Criança , Medicina Estatal , Infecções Estreptocócicas/complicações , Infecções Estreptocócicas/diagnóstico , Infecções Estreptocócicas/tratamento farmacológico , Antibacterianos/uso terapêutico , Cognição
2.
Appl Biochem Biotechnol ; 195(9): 5280-5298, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-35606635

RESUMO

4-Chlorophenol (4-CP) is a persistent organic pollutant commonly found in petrochemical effluents. It causes toxic, carcinogenic and mutagenic effects on human beings and aquatic lives. Therefore, an environmentally benign and cost-effective approach is needed against such pollutants. In this direction, the chlorophenol degrading bacterial consortium consisting of Bacillus flexus GS1 IIT (BHU) and Bacillus cereus GS2 IIT (BHU) was isolated from a refinery site. A composite biocarrier namely polypropylene-polyurethane foam (PP-PUF) was developed for bacterial cells immobilization purpose. A lab-scale moving bed biofilm reactor (MBBR) packed with Bacillus sp. immobilized PP-PUF biocarrier was employed to analyse the effect of peptone on biodegradation of 4-CP. The statistical tool, i.e. response surface methodology (RSM), was used to optimize the process variables (4-CP concentration, peptone concentration and hydraulic retention time). The higher values of peptone concentration and hydraulic retention time were found to be favourable for maximum removal of 4-CP. At the optimized process conditions, the maximum removals of 4-CP and chemical oxygen demand (COD) were obtained to be 91.07 and 75.29%, respectively. In addition, three kinetic models, i.e. second-order, Monod and modified Stover-Kincannon models, were employed to investigate the behaviour of MBBR during 4-CP biodegradation. The high regression coefficients obtained by the second-order and modified Stover-Kincannon models showed better accuracy for estimating substrate degradation kinetics. The phytotoxicity study supported that the Vigna radiata seeds germinated in treated wastewater showed higher growth (i.e. radicle and plumule) than the untreated wastewater.


Assuntos
Clorofenóis , Águas Residuárias , Humanos , Eliminação de Resíduos Líquidos/métodos , Cinética , Biofilmes , Peptonas , Reatores Biológicos , Clorofenóis/metabolismo
3.
Sci Rep ; 12(1): 8960, 2022 05 27.
Artigo em Inglês | MEDLINE | ID: mdl-35624169

RESUMO

Global vaccine prices that are tiered across countries, equitable for poorer countries, and profitable for manufacturers (TEP) can promote global vaccine equity but its implementation may require political will and public support in rich countries. A survey experiment with a demographically representative sample of US adults was conducted between April and May 2021 to investigate public support for TEP and the likelihood of collective agreement on TEP relative to alternative global vaccine pricing strategies. The experiment varied vaccine cost and provision of information about the importance of equity and profitability considerations in global vaccine pricing across eight treatment conditions. TEP of low-cost vaccines received less support than TEP of high-cost vaccines, but TEP received more public support than any alternative pricing strategy. Information about equity and profitability considerations increased support for TEP of low-cost vaccines. TEP was also the most likely pricing strategy to achieve collective agreement among participants across all treatments.


Assuntos
Vacinas , Adulto , Custos e Análise de Custo , Humanos , Estados Unidos
4.
J Hazard Mater ; 416: 125968, 2021 08 15.
Artigo em Inglês | MEDLINE | ID: mdl-34492879

RESUMO

Aromatic hydrocarbons (AHCs) are one of the major environmental pollutants introduced from both natural and anthropogenic sources. Many AHCs are well known for their toxic, carcinogenic, and mutagenic impact on human health and ecological systems. Biodegradation is an eco-friendly and cost-effective option as microorganisms (e.g., bacteria, fungi, and algae) can efficiently breakdown or transform such pollutants into less harmful and simple metabolites (e.g., carbon dioxide (aerobic), methane (anaerobic), water, and inorganic salts). This paper is organized to offer a state-of-the-art review on the biodegradation of AHCs (monocyclic aromatic hydrocarbons (MAHs) and polycyclic aromatic hydrocarbons (PAHs)) and associated mechanisms. The recent progress in biological treatment using suspended and attached growth bioreactors for the biodegradation of AHCs is also discussed. In addition, various substrate growth and inhibition models are introduced along with the key factors governing their biodegradation kinetics. The growth and inhibition models have helped gain a better understanding of substrate inhibition in biodegradation. Techno-economic analysis (TEA) and life cycle assessment (LCA) aspects are also described to assess the technical, economical, and environmental impacts of the biological treatment system.


Assuntos
Poluentes Ambientais , Hidrocarbonetos Policíclicos Aromáticos , Bactérias , Biodegradação Ambiental , Reatores Biológicos , Poluentes Ambientais/análise , Humanos , Hidrocarbonetos Policíclicos Aromáticos/análise , Hidrocarbonetos Policíclicos Aromáticos/toxicidade
5.
Bioresour Technol ; 337: 125478, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-34320758

RESUMO

In this work, an effort has been made to develop an integrated system (ozonation followed by biodegradation) for the treatment of Acid orange 7 (AO 7) dye. The process parameters such as pH (3.0-11) and ozone dosage (5-25 mg/L) were optimized and obtained as 3.0 and 25 mg/L, respectively to treat the AO 7 by ozonation. Similarly, the process parameters, namely pH (5.0-9.0) and temperature (25-45 °C) were optimized and found to be 7.0 and 35 °C, respectively by biological treatment. Bacillus sp. was found to be the most effective bacteria to remove the AO 7. An integrated system obtained an overall 98.7% removal of AO 7 under optimum conditions. Andrews-Haldane model was best to predict the experimental data and the bio-kinetic constants; µmax: 0.1875 day-1; Ks: 49.53 mg/L; Ki: 133.32 mg/L were obtained. The developed integrated system can be a promising option for the treatment of azo dye containing-wastewaters.


Assuntos
Ozônio , Águas Residuárias , Compostos Azo , Benzenossulfonatos , Biodegradação Ambiental , Corantes
6.
Soc Sci Med ; 282: 114171, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-34175572

RESUMO

Recommendations by health experts to deal with public health emergencies are primarily guided by the principle of "saving more lives". It is unclear whether people perceive this principle as ethically more legitimate than some other principle such as "saving more life-years". Understanding the answer to this question is particularly relevant to the allocation of scarce medical resources during public health emergencies. Different principles typically lead to different allocations, and consequently have dramatically different implications as to who survives and who dies. We fielded an online randomized controlled survey experiment in the context of scarce ventilator allocation with a demographically representative sample of US adults (n = 700) from October 22 to October 30, 2020. Participants faced hypothetical situations where they had to allocate few available ventilators among several needy patients. The experiment was designed such that the allocation decision made by a participant can be used to infer the principle in line with their personal ethical values. We interpret this inferred principle as the one that the participant perceives to be most legitimate. The treatment group, but not the control group, was provided balanced information that described the ethical dilemmas faced by experts in developing ventilator allocation guidelines. Nearly half of the participants in the control group perceive saving more lives the most legitimate principle. Despite the balanced nature of the information, the perceived legitimacy of saving more lives was 7·6 percentage points higher in the treatment group. The magnitude of this impact was particularly strong among republican-leaning participants, a subgroup that has less trust in experts according to previous research. Our findings suggest that enhancing public awareness of ethical dilemmas faced by health experts can increase the perceived legitimacy of their proposed guidelines even among those with lower trust in experts.


Assuntos
Alocação de Recursos para a Atenção à Saúde , Ventiladores Mecânicos , Adulto , Emergências , Humanos , Saúde Pública , Alocação de Recursos , Inquéritos e Questionários , Estados Unidos
7.
Appl Biochem Biotechnol ; 193(7): 2128-2144, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-33665772

RESUMO

A rigorous knowledge of the bacterial growth kinetics is essential for the scaling-up and optimization of biodegradation process conditions in a bioreactor. Although a great deal of literature is available on the modeling of bacterial growth kinetics considering the inhibition at high substrate-loading, the inhibition caused by toxic metabolic byproducts was not accounted in the bacterial growth kinetics. This work primarily aimed at developing a parametric bacterial growth model to account for metabolite inhibition, indicated by a decelerating log-phase growth, which was rarely discussed in the previous studies. An efficient azo-dye degrading bacterium (Bacillus subtilis MN372379) was isolated from the sludge-waste nearby a carpet-dyeing unit. The isolated bacterial strain was used to decolorize the simulated wastewater containing Congo red dye. This study proposed a computational approach to calculate specific bacterial growth rate time-averaged over the entire sigmoidal log phase (including the decelerating phase) for incorporating the effect of metabolite-inhibition, in contrast to the conventional studies where only the initial part (accelerating) of log phase was considered. The nature of metabolite inhibition was also determined and found to be non-competitive. Next, the computed time-averaged specific bacterial growth rate was incorporated into three substrate inhibition models to account for both, the metabolite and substrate inhibitions, and subsequently their kinetic parameters were also determined. Finally, the initial dye concentration and inoculum size were optimized to yield maximum dye utilization rate. This study paves the way for predicting bacterial growth kinetic with improved accuracy to enable a better optimization of bioreactors at the industrial scale.


Assuntos
Bacillus subtilis/crescimento & desenvolvimento , Simulação por Computador , Vermelho Congo/metabolismo , Modelos Biológicos , Águas Residuárias/microbiologia , Purificação da Água
8.
Ecotoxicol Environ Saf ; 201: 110860, 2020 Sep 15.
Artigo em Inglês | MEDLINE | ID: mdl-32563162

RESUMO

The biodegradation of naphthalene using low-density polyethylene (LDPE) immobilized Exiguobacterium sp. RKS3 (MG696729) in a packed bed bioreactor (PBBR) was studied. The performance of a continuous PBBR was evaluated at different inlet flow rates (IFRs) (20-100 mL/h) under 64 days of operation. The maximum naphthalene removal efficiency (RE) was found at low IFR, and it further decreased with increasing IFRs. In a continuous PBBR, the external mass transfer (EMT) aspect was analysed at various IFRs, and experimental data were interrelated between Colburn factor (JD) and Reynolds number (NRe) as [Formula: see text] . A new correlation [Formula: see text] was obtained to predict the EMT aspect of naphthalene biodegradation. Andrew-Haldane model was used to evaluate the bio-kinetic parameters of naphthalene degradation, and kinetic constant νmax, Js, and Ji were found as 0.386 per day, 13.6 mg/L, and 20.54 mg/L, respectively.


Assuntos
Reatores Biológicos/microbiologia , Naftalenos/análise , Poluentes Químicos da Água/análise , Purificação da Água/métodos , Bacillales/crescimento & desenvolvimento , Bacillales/metabolismo , Biodegradação Ambiental , Células Imobilizadas/microbiologia , Cinética , Polietileno/química
9.
Appl Biochem Biotechnol ; 192(1): 196-210, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32338331

RESUMO

Microbial fuel cell (MFC) is an attractive green technology which harnesses the power of microorganism for the production of electricity along with bioremediation of waste. However, the bioremediation of the high concentration of dye wastewater in MFC remains unclear. In present study, double-chambered MFC inoculated with mixed bacterial consortium was used for bioremediation of reactive orange 16 (RO-16) dyes at a very high and variable concentration range of 100 to 1000 ppm. Maximum voltage was obtained for 100 ppm of dye and was found to be 0.5791 V along with a power density of 0.0851 W/m3. Till 500 ppm concentration of dye COD removal efficiency remains in range of 40 to 100% thereafter it decreases. The maximum concentration of CO2 was found to be 2% at 1000 ppm which confirms the biodegradation phenomena in MFC. Kinetics of biodegradation of reactive orange 16 were studied using Haldane inhibitory kinetic model and kinetic constants µmax, Ks, and Ki were calculated and found to be 0.417 day-1, 206.2 ppm, and 447.12 ppm respectively. The experimental results showed inhibitory condition in the MFC after 500 ppm and it was supported by the value of inhibitory kinetic constant Ki = 447.12 ppm. This study opened the possibility of bioremediation of dyes at high concentrations in MFCs.


Assuntos
Compostos Azo/metabolismo , Fontes de Energia Bioelétrica/microbiologia , Corantes/metabolismo , Eliminação de Resíduos Líquidos/métodos , Águas Residuárias/microbiologia , Bactérias/metabolismo , Análise da Demanda Biológica de Oxigênio , Biomassa , Dióxido de Carbono/química , Eletricidade , Eletrodos , Cinética
10.
Bioresour Technol ; 307: 123203, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32222690

RESUMO

In the present study, a hybrid treatment system (biological and ozonation) was developed and used in the decolorization of Congo red (CR) dye. The biological treatment was performed in packed bed bioreactor (PBBR) containing Arjuna (Terminalia Arjuna) seeds biochar immobilized with Providencia stuartii, whereas ozonation was carried out in an ozone reactor. The process variables such as temperature, process time, and inoculum size were optimized and found to be 30 °C, 2 48 h, and 3 × 105 CFU/mL, respectively with 92.0 ± 5.0% of dye decolorization. Furthermore, biologically treated effluent was subject to ozone treatment for the decolorization of the remaining CR dye. The hybrid approach reveals almost complete decolorization of Congo red (CR) dye. The kinetic study of microbial growth was examined by Monod model. In addition, the cost analysis estimation for the removal of CR dye was done, and removal per liter was found to be economic.


Assuntos
Vermelho Congo , Terminalia , Biodegradação Ambiental , Carvão Vegetal , Corantes , Sementes
11.
Bioresour Technol ; 302: 122811, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-32000130

RESUMO

The biodegradation of Congo red dye was performed using polyurethane foam-polypropylene immobilized Bacillus sp. MH587030.1 in a moving bed biofilm reactor (MBBR). The central composite design (CCD) based response surface methodology (RSM) was used to optimize the process parameters; pH, Congo red concentration, and media filling ratio, and optimum conditions were observed to be 7.0, 50 mg/L, and 45%, respectively in batch MBBR. At optimum condition, MBBR was operated in continuous mode at different flow rates (25-100 mL/h) over a period of 564 h. The maximum removal efficiency (RE) and elimination capacity (EC) were obtained as 95.7% and 57.6 mg/L·day, respectively under steady-state. The kinetics of Congo red biodegradation at various flow rates were evaluated by a modified Stover-Kincannon model, and kinetic constants; KB and Umax were found to be 0.253 g/L·day and 0.263 g/L·day, respectively.


Assuntos
Biofilmes , Vermelho Congo , Biodegradação Ambiental , Reatores Biológicos , Cinética , Eliminação de Resíduos Líquidos
12.
Bioresour Technol ; 285: 121317, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-30979643

RESUMO

The main aim of this work was to evaluate the performance of a biofilter packed with a mixture of compost and activated carbon, for gas-phase toluene removal under very high loading rates. Plaster of Paris was used as a binder to improve the mechanical strength and durability of the packing media. The biofilter was operated continuously for a period of ∼110 days and at four different flow rates (0.069, 0.084, 0.126 and 0.186 m-3 h-1), corresponding to toluene loading rates of 160-8759 g m-3 h-1. The maximum elimination capacity (EC) achieved in this study was 6665 g m-3 h-1, while the removal efficiency (RE) varied from ∼70 to >95% depending on the loading rate tested. The biofilter was able to remove >99% of toluene using Pseudomonas sp. RSST (MG 279053) as the dominant toluene degrading biocatalyst.


Assuntos
Compostagem , Tolueno , Biodegradação Ambiental , Carvão Vegetal , Filtração
13.
Bioresour Technol ; 281: 335-342, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30831512

RESUMO

In this work, modified plastic carriers; polypropylene (PP), low-density polyethylene- polypropylene (LDPE-PP), and polyurethane foam-polypropylene (PUF-PP) were developed and used in moving bed bioreactor (MBBR) for the wastewater treatment containing naphthalene. To optimized the process parameters using response surface methodology (RSM), two numerical variables; pH (5.0-9.0) and hydraulic retention time (HRT) (1.0-5.0 day) along with the type of carriers (PP, LDPE-PP, and PUF-PP) were selected as a categorical factor. At 7.0 pH and 5 days HRT, maximum removal efficiencies were observed to be 72.4, 84.4, and 90.2% for MBBR packed with PP, LDPE-PP, and PUF-PP carriers, respectively. Gas chromatography-mass spectrometry (GC-MS) analysis reveals catechol and 2-naphthol were observed as intermediate metabolites for naphthalene degradation. Modified Stover-Kincannon model was applied for biodegradation kinetic and constants were observed as Umax: 0.476, 0.666, and 0.769 g/L.day and KB: 0.565, 0.755, and 0.874 g/L.day for PP, LDPE-PP, PUF-PP, respectively.


Assuntos
Biofilmes , Reatores Biológicos , Eliminação de Resíduos Líquidos/métodos , Águas Residuárias/química , Cinética , Polietileno/química , Polipropilenos/química , Poliuretanos/química , Eliminação de Resíduos Líquidos/instrumentação
14.
Environ Res ; 171: 356-364, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30716513

RESUMO

Bacterial species for metabolizing dye molecules were isolated from dye rich water bodies. The best microbial species for such an application was selected amongst the isolated bacterial populations by conducting methylene blue (MB) batch degradation studies with the bacterial strains using NaCl-yeast as a nutrient medium. The most suitable bacterial species was Alcaligenes faecalis (A. faecalis) according to 16S rDNA sequencing. Process parameters were optimized and under the optimum conditions (e.g., inoculum size of 3 mL, temperature of 30 °C, 150 ppm, and time of 5 days), 96.2% of MB was removed. Furthermore, the effectiveness for the separation of MB combining bio-film with biochar was measured by a bio-sorption method in a packed bed bioreactor (PBBR) in which microbes was immobilized. The maximum MB removal efficiencies, when tested with 50 ppm dye using batch reactors containing free A. faecalis cells and the same cells immobilized on the biochar surface, were found to be 81.5% and 89.1%, respectively. The PBBR operated in continuous recycle mode at high dye concentration of 500 ppm provided 87.0% removal of MB through second-order kinetics over 10 days. The % removal was found in the order of PBBR>Immobilized batch>Free cell. The standalone biochar batch adsorption of MB can be described well by the pseudo-second order kinetics (R2 ≥ 0.978), indicating the major contribution of electron exchange-based valence forces in the sorption of MB onto the biochar surface. The Langmuir isotherm suggested a maximum monolayer adsorption capacity of 4.69 mg g-1 at 40 °C which was very close to experimentally calculated value (4.97 mg g-1). Moreover, the Casuarina seed biochar was reusable 5 times.


Assuntos
Biodegradação Ambiental , Carvão Vegetal/química , Azul de Metileno/química , Adsorção , Concentração de Íons de Hidrogênio , Cinética , Poluentes Químicos da Água
15.
Bioresour Technol ; 253: 355-367, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29352640

RESUMO

The rampant industrialization and unchecked growth of modern textile production facilities coupled with the lack of proper treatment facilities have proliferated the discharge of effluents enriched with toxic, baleful, and carcinogenic pollutants including dyes, heavy metals, volatile organic compounds, odorants, and other hazardous materials. Therefore, the development of cost-effective and efficient control measures against such pollution is imperative to safeguard ecosystems and natural resources. In this regard, recent advances in biotechnology and microbiology have propelled bioremediation as a prospective alternative to traditional treatment methods. This review was organized to address bioremediation as a practical option for the treatment of dyes by evaluating its performance and typical attributes. It further highlights the current hurdles and future prospects for the abatement of dyes via biotechnology-based remediation techniques.


Assuntos
Biodegradação Ambiental , Corantes , Metais Pesados , Estudos Prospectivos , Têxteis
16.
Iran J Child Neurol ; 11(3): 61-65, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28883880

RESUMO

Holoprosencephaly is the most common embryonic brain defect. Foetuses who survive during intrauterine life are born with varying grades of brain and facial deformities. Extra craniofacial manifestations are common. Vertebral segmentation defects are rarely seen with holoprosencephaly, mainly in association with holoprosencephaly diencephalic hamartoblastoma (HDH) association. A female infant was born at term by normal delivery. Birth head circumference was below the 3rd percentile. Antenatal scan had showed microcephaly as the only abnormality. Physical examination revealed microcephaly, ocular hypotelorism, left ear skin tag and short neck. MRI of the brain showed semilobar holoprosencephaly. Neck radiograph revealed gross vertebral segmentation defect involving cervical and upper thoracic vertebrae. She had initial feeding difficulties. She showed severe global developmental delay and had underlying central diabetes insipidus. Vertebral segmentation defect is rare in holoprosencephaly.

18.
Eur J Pediatr ; 174(10): 1339-45, 2015 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-25896618

RESUMO

UNLABELLED: Shaken baby syndrome (SBS) results in cerebral trauma. Creating awareness through education may improve parental response to a distressed infant. We aim to assess current parental understanding of SBS and identify knowledge gaps. A prospective assessment was carried out in two independent maternity hospitals (National Maternity Hospital (NMH) and Midland Regional Hospital (MRH)) over a 4-month period. Multi-dimensional questionnaires were distributed to parents (n = 233) and results were assessed anonymously. Statistical analysis was performed using SPSS21 software. Two hundred thirty-three participants were included: n = 114 (NMH), n = 119 (MRH). Fifty-four percent (n = 62, NMH) and 50 % (n = 60, MRH) had never heard of SBS. Of those who had, media was the commonest source: 94 % (47/50) NMH; 86 % (47/59) MRH. Less than 1 % of participants obtained information through a health care provider. Nearly all respondents wanted further information, regardless of whether they had prior knowledge (100 % (NMH); 99.2 % (MRH)). Participants wanted information delivered via a midwife (51 % (58/114) NMH; 45 % (54/119) MRH), with reading material (61 % (69/114) NMH; 59 % (70/119) MRH), during pre-natal period (50 % (57/114) NMH; 65 % (77/119) MRH). Importantly, parents of Irish origin were more likely to have heard of SBS compared to those of non-Irish origin (p = 0.026 (NMH), p = 0.020 (MRH)). CONCLUSION: Half of all participants had no prior knowledge of SBS, with majority expressing interest in learning more. Therefore, a national "Don't Shake" campaign is evolving. WHAT IS KNOWN: • Studies have shown that educating parents regarding shaken baby syndrome (SBS) may result in a more safe and appropriate response to infant crying [ 3 ]. • In Ireland, there is no such education provided to parents in maternity hospitals. What is New: • Just over half of our participants had not heard of SBS, and we have identified parental perceptions of SBS, and parents preferred method of anti-SBS education delivery. • This research will act as a launching platform for an anti-SBS campaign in Ireland.


Assuntos
Conscientização , Maus-Tratos Infantis/prevenção & controle , Conhecimentos, Atitudes e Prática em Saúde , Pais/educação , Medição de Risco/métodos , Síndrome do Bebê Sacudido/psicologia , Adulto , Feminino , Humanos , Incidência , Lactente , Recém-Nascido , Irlanda/epidemiologia , Masculino , Pais/psicologia , Estudos Prospectivos , Síndrome do Bebê Sacudido/epidemiologia , Síndrome do Bebê Sacudido/prevenção & controle , Inquéritos e Questionários
19.
J Child Neurol ; 30(8): 1086-8, 2015 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-25227517

RESUMO

We report on a male infant who presented with neonatal clonic seizure and was found to have isolated left-sided microtia on clinical examination. Magnetic resonance imaging (MRI) of the brain revealed extensive polymicrogyria over the bilateral perisylvian and frontal cortex. He had no other associated anomaly on physical examination, genetics, metabolic, and radio imaging studies. The study of the data collected from the Italian Birth Defect Registry reported the incidence of microtia-anotia as 1.46/10 000. Microtia-anotia can also be found in association with other anomalies that characterizes oculo-auriculo-vertebral spectrum. Although oculo-auriculo-vertebral spectrum has been associated with various cerebral malformations, isolated microtia usually does not have such association. We could not find any report of polymicrogyria in a case of isolated microtia.


Assuntos
Microtia Congênita/complicações , Lateralidade Funcional , Polimicrogiria/complicações , Pré-Escolar , Humanos , Imageamento por Ressonância Magnética , Masculino , Polimicrogiria/diagnóstico
20.
J Child Neurol ; 30(3): 394-6, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-24813870

RESUMO

We present a case of a 1-year-old female child who was referred to the Early Intervention Clinic for evaluation of developmental delay and progressively enlarging head size. Developmental assessment revealed significant motor delay with borderline cognitive impairment. MRI of the brain revealed generalized ventriculomegaly secondary to narrowing of the spinal canal at the cervicomedullary junction. Targeted array-based comparative genomic hybridization showed deletion of approximately 602 kbp from band p12.2 region of the short arm of chromosome 16, which encompasses 16p12.1 microdeletion syndrome. The 16p12.1 microdeletion syndrome has been recently recognized as an important contributor of developmental delay and other neuropsychiatric phenotypes in the child. To date, no case of cervicomedullary spinal canal stenosis with hydrocephalus has been reported with 16p12.1 microdeletion syndrome.


Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 16 , Deficiências do Desenvolvimento/complicações , Deficiências do Desenvolvimento/genética , Estenose Espinal/etiologia , Feminino , Humanos , Lactente , Imageamento por Ressonância Magnética , Estenose Espinal/diagnóstico
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