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1.
Ann Med Surg (Lond) ; 85(6): 3008-3011, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-37363485

RESUMO

A stab wound in the heart is associated with high mortality rates. Rapid patient transfer to the closest hospital, maximal speed in establishing a diagnosis, and highly trained prompt surgical intervention are all crucial to achieving a positive result in the treatment of these critical patients. Case presentation: This report presents a 28-year-old man with a stab wound to the chest, causing pericardial tamponade and a myocardial injury that presented with shock. The patient was diagnosed by chest ultrasonography and operated on successfully after 45 min of the stab without complications. Clinical discussion and conclusion: Cardiac repair should be attempted as soon as possible if the patient with the stab wound to the heart is not dead upon arrival. The time from the stabbing to the start of the operation is vital, and any delay in the operation may lose the patient. Glasgow Coma Scale could be considered as predicting variable for complications or mortality in patients with stab heart wounds.

2.
Haemophilia ; 23(4): e340-e347, 2017 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-28594476

RESUMO

INTRODUCTION: Congenital dysfibrinogenemia is a rare qualitative fibrinogen deficiency. Molecular defects that result in dysfibrinogenemia are usually caused by mutations which affect fibrinopeptide release, fibrin polymerization, fibrin cross-linking or fibrinolysis. AIM: Here, we investigated the genetic basis of hypodysfibrinogenemia in two Tunisian siblings with major bleeding. METHODS: Coagulation-related tests were performed on the patients and their family members. Functional analysis was performed in plasma fibrinogen to characterize fibrin polymerization. The sequences of fibrinogen genes were amplified and analysed by sequencing. RESULTS: Coagulation studies revealed a reduced functional and a borderline low antigenic fibrinogen plasma levels with prolonged thrombin and activated partial thromboplastin times. The fibrinogen is also characterized by a markedly impaired polymerization and could incorporate into fibrin fibres to a smaller extent (22%). Mutational screening disclosed a heterozygous single nucleotide deletion (G) at c.1025, resulting in a frameshift mutation (AαGly323GlufsX79) that is predicted to delete a part of the αC-domain containing some of the FXIII cross-linking sites. Both the normal and the aberrant Aα-chain (approximately 43 kDa) were detected by electrophoretic analysis in the patients. CONCLUSION: The new dysfunctional fibrinogen, Mahdia variant, describes its impact on fibrin assembly after the loss of the αC domains which are involved in the lateral aggregation of protofibrils. The study confirms that the truncated Aα-chain could be incorporated into mature fibrinogen molecules.


Assuntos
Fibrina/química , Fibrina/genética , Fibrinogênios Anormais/genética , Fibrinogênios Anormais/metabolismo , Multimerização Proteica , Sequência de Aminoácidos , Testes de Coagulação Sanguínea , Criança , Éxons/genética , Feminino , Heterozigoto , Humanos , Masculino , Mutação , Linhagem , Estrutura Quaternária de Proteína
3.
Arch Pediatr ; 24(2): 126-130, 2017 Feb.
Artigo em Francês | MEDLINE | ID: mdl-27979672

RESUMO

The beta-thalassemia trait is a heterozygous beta-thalassemia characterized by a partial deficiency of the synthesis of beta-globin chains of hemoglobin. It is usually asymptomatic and the diagnosis is often made on the occasion of the completion of a systematic blood count or a family survey. Clinical expression during the neonatal period is impossible and its association with hereditary spherocytosis is common. We report two monozygotic twins who, on the 3rd day of life, presented intense jaundice, unconjugated bilirubin associated with anemia, without hepatosplenomegaly. Laboratory tests found nonimmune hemolytic anemia with microcytosis and hypochromia justifying iterative blood transfusions. The etiological investigation found heterozygous beta-thalassemia associated with hereditary spherocytosis. The family investigation and molecular analysis objectified the beta-thalassemic mutation IVS1nt110 (G→A) in the heterozygous state in the twins, the father, the mother, and in one of the two brothers. With any nonimmune hemolytic anemia in newborns, the etiological investigation should be systematic for early diagnosis and to plan appropriate treatment.


Assuntos
Doenças em Gêmeos/diagnóstico , Doenças em Gêmeos/genética , Esferocitose Hereditária/diagnóstico , Esferocitose Hereditária/genética , Gêmeos Monozigóticos , Criança , Pré-Escolar , Códon sem Sentido/genética , Análise Mutacional de DNA , Feminino , Seguimentos , Expressão Gênica/genética , Triagem de Portadores Genéticos , Testes Genéticos , Genótipo , Hemoglobinometria , Humanos , Lactente , Recém-Nascido , Talassemia beta/diagnóstico , Talassemia beta/genética
4.
Ann Endocrinol (Paris) ; 71(4): 314-9, 2010 Sep.
Artigo em Francês | MEDLINE | ID: mdl-20554266

RESUMO

Neonatal diabetes mellitus is a rare entity defined as hyperglycaemia occurring within the first 3 months of life that lasts for at least 2 weeks and requiring insulin therapy for unforeseeable duration. We report the case of a full-term female infant with permanent neonatal diabetes mellitus, stemming from consanguineous parents, born with severe intra-uterine growth retardation and birth weight of 1400 g. The patient presented on the 15th day of life a severe dehydration with a fever and ponderal loss of 14 %. The biology showed hyperglycaemia to 15 mmol/L, moderate metabolic acidosis, glucosuria and ketonuria. The diagnosis of neonatal diabetes mellitus was reserved, justifying its stake under insulin. Etiologic investigation showed a type HLA-DR4/DR8; anti-insulin antibodies were weakly positive, Langerhans islet cell and anti-GAD antibodies were negative. Abdominal magnetic resonance imaging scans, karyotype, molecular biology and chromatography of amino and organic acids did not show any abnormalities. During the first 2 years of age, the patient presented a big instability of glycaemia having required several hospitalizations. After 12 years of age, the patient is still under insulin with a satisfactory glycaemia balance and her growth is normal. Besides, she presents a microcephaly with a spastic walking. The search of neonatal diabetes mellitus must be systematic in front of any fetal hypotrophy allowing a premature coverage and a good prognosis.


Assuntos
Diabetes Mellitus/diagnóstico , Antígenos HLA-DR/imunologia , Antígeno HLA-DR4/imunologia , Anticorpos Anti-Insulina/sangue , Diabetes Mellitus/tratamento farmacológico , Diabetes Mellitus/imunologia , Feminino , Retardo do Crescimento Fetal/imunologia , Seguimentos , Subtipos Sorológicos de HLA-DR , Humanos , Hiperglicemia/tratamento farmacológico , Hiperglicemia/imunologia , Hipoglicemiantes/imunologia , Hipoglicemiantes/uso terapêutico , Recém-Nascido , Recém-Nascido de muito Baixo Peso/imunologia , Insulina/imunologia , Insulina/uso terapêutico , Ilhotas Pancreáticas/imunologia
5.
J Hazard Mater ; 170(2-3): 1050-5, 2009 Oct 30.
Artigo em Inglês | MEDLINE | ID: mdl-19520507

RESUMO

Batch biosorption experiments were carried out for the removal of methylene blue, a basic dye, from aqueous solution using raw and dried Enteromorpha spp., Mediterranean green alga. A series of assays were undertaken to assess the effect of the system variables, i.e. contact time, solution pH and sorbent amount. The results had showed that sorption capacity was optimal using 6-10 solution pH range (i.e. maximum adsorption capacity of 274 mg/g). The minimum sorbent concentration experimentally found to be sufficient to reach the total removal of the dye molecules from the aqueous solution was 5 g/L. Besides, equilibrium data were fitted using five linearisable isotherm models. The related results showed that the experimental data were very well represented by the Langmuir model for the linear regression analysis and both the Langmuir and Redlich-Peterson isotherm models for the non-linear analysis. In both cases, such modelling behaviour confirms the monolayer coverage of methylene blue molecules onto energetically homogenous Enteromopha surface. In addition, an exhaustive comparative study was done to situate this marine biomass among other proposed sorbents.


Assuntos
Clorófitas/química , Azul de Metileno/química , Absorção , Biomassa , Concentração de Íons de Hidrogênio , Modelos Lineares , Mar Mediterrâneo , Dinâmica não Linear , Termodinâmica
6.
J Hazard Mater ; 165(1-3): 240-9, 2009 Jun 15.
Artigo em Inglês | MEDLINE | ID: mdl-19027228

RESUMO

Industrial valorisation of low cost and renewable biomass as raw precursor of activated carbon for environmental applications is an interesting alternative to costly commercial activated carbons. In this study, the possible use of Mediterranean, Posidonia oceanica fibrous biomass, as a precursor for chars and physically activated carbons, is investigated. Firstly, the raw marine material was chemically and biochemically characterised throughout dry-basis elemental, X-ray photoelectron spectroscopy (XPS) and scanning electron microscopy (SEM) analysis. Then, several P. oceanica chars were prepared and characterised under different pyrolysis times and temperatures. In addition, physically activated carbons (PACs) were produced via water steam flow under various activation periods. The results showed that the pyrolysis induces the creation of pores at different levels with respect to the involved temperature. Thereafter, the physical activation tends to enhance the development of the porous structure. In that issue, the performed Brunauer-Emmett-Teller (BET) and Barrett-Joiner-Halenda (BJH) analysis revealed that the prepared PACs have a mainly mesoporous inner morphology with a varying fraction of micropores.


Assuntos
Alismatales/química , Carbono/química , Carvão Vegetal/síntese química , Animais , Biomassa , Temperatura Alta , Porosidade
7.
Med Mal Infect ; 36(8): 434-7, 2006 Aug.
Artigo em Francês | MEDLINE | ID: mdl-16890392

RESUMO

The cerebral localization of the hydatid disease is rare, under 2%, and it primarily affects children. We report 4 cases of children presenting with a cerebral hydatid cyst (2 boys and 2 girls, mean age 9 years). Clinical symptoms were very progressive, the disease was frequently diagnosed several months (1-12 months) after onset of symptoms most often headaches and vomiting. One patient presented with a right tonic-clonic seizure 3 days before hospitalization. The diagnostic was confirmed in all cases by Cerebral CT scan. All the patients were screened for other localizations. One patient also presented with pulmonary and hepatic hydatid cysts. Hydatid blood tests were positive in only one case. The treatment was surgical for all the patients (using hydropulsion) without complications in 2 cases. One child presented with meningitis, and the other child with signs of secondary ICHT related to residual mass which required its puncture.


Assuntos
Encefalopatias/parasitologia , Equinococose/diagnóstico , Equinococose/parasitologia , Animais , Encefalopatias/cirurgia , Criança , Progressão da Doença , Equinococose/cirurgia , Feminino , Humanos , Masculino , Taenia , Resultado do Tratamento
8.
J Hazard Mater ; 132(2-3): 277-86, 2006 May 20.
Artigo em Inglês | MEDLINE | ID: mdl-16431020

RESUMO

Herein, an experimental study coupled with a model in order to assess the non-equilibrium and multi-compound dissolution behaviour of a coal tar containing PAHs and phenols into water, is presented. For this aim, two experimental studies has been carried out: (1) coal tar-water partition equilibrium and (2) dissolution dynamics of coal tar under controlled hydrodynamic conditions in percolation columns packed with glass beads. The dissolution amount of the three target constituents (i.e. phenol, naphthalene and phenanthrene) was monitored by UV detection. The dissolution behaviour was modelled using a predictive fraction approach. The partition coefficients have been estimated from experimental data and the obtained results show that the partition coefficient of each constituent between the aqueous phase and the tar depends on the activities of the constituent in both phases and cannot be estimated only from the solubility of the pure compound in water. The non-equilibrium dissolution model was established, applied for the experimental conditions and validated for three target compounds adjusting the effective interfacial area between tar and water. This parameter is specific of the experimental set-up. The global behaviour of coal tar has been modelled taking into account four categories of compounds according to their water solubility and volatilities. The mass transfer parameters have been estimated using available correlations. The results of this paper indicate that a model based on component fractions can be used to assess the non-equilibrium dissolution behaviour of a coal tar.


Assuntos
Alcatrão/química , Água/química , Alcatrão/análise , Modelos Químicos , Naftalenos/análise , Naftalenos/química , Fenantrenos/análise , Fenantrenos/química , Fenol/análise , Fenol/química , Solubilidade
9.
Ann Urol (Paris) ; 34(3): 165-70, 2000 Jun.
Artigo em Francês | MEDLINE | ID: mdl-10953792

RESUMO

In this study, the authors have reported 100 cases of primary vesico-ureteral reflux (VUR) which occurred over a 7-year period. Patient age at presentation ranged from 1 month to 13 years, with a mean age of 3 years and 5 months. Overall, a higher rate of reflux was observed in the female population (63%) which was particularly evident after the age of 3 years, but with a male predominance during the first 12 months of life. In the majority of cases, the diagnosis of VUR was made following diagnosis and investigation of urinary infection (UI). A high level of UI was the most frequent sign of VUR (87% of cases), while in 6% of cases this disorder was diagnosed during the investigation of an uropathy which was found to be complex in all subjects. An analysis of 143 ureteral reflux units (URU) showed that VUR was pathological only in 17% of cases, and that the reflux grade was I, II, III and IV in 47.4, 28.14, 11.11 and 2.34% of cases respectively. DMSA scintigraphy in 38 patients showed signs of nephropathy in 24 cases, i.e., 14 scars and a decrease in kidney size in 9 cases, and an absence of fixation for one grade IV reflux. Forty subjects with 56 reflux units (34 grade I, II and 22 grade III, IV) were treated by antibiotic prophylaxis, with a positive outcome in 85% of cases in children under 2 years of age, compared to 40% for children aged over 2 years. Only 7 patients were treated by teflon endoscopic injection, and in one case a further injection was required; 21 patients with 30 reflux units were treated by surgery at a mean age of 4 years. In conclusion, VUR is a fairly common disorder, which is frequently detected via an IU; its potential gravity is associated with the risk of subsequent nephropathy.


Assuntos
Refluxo Vesicoureteral/diagnóstico , Refluxo Vesicoureteral/terapia , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Estudos Retrospectivos
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