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1.
BMC Gastroenterol ; 24(1): 31, 2024 Jan 12.
Artigo em Inglês | MEDLINE | ID: mdl-38216868

RESUMO

BACKGROUND: Rectal cancer is commonly treated by chemoradiation therapy, followed by the low anterior resection anal sphincter-preserving surgery, with a temporary protecting ileostomy. After reversal of the stoma a condition known as low anterior resection syndrome (LARS) can occur characterized by a combination of symptoms such as urgent bowel movements, lack of control over bowel movements, and difficulty fully emptying the bowels. These symptoms have a significant negative impact on the quality of life for individuals who have survived the cancer. Currently, there is limited available data regarding the presence, risk factors, and effects of treatment for these symptoms during long-term follow-up. AIMS: To evaluate long term outcomes of low anterior resection surgery and its correlation to baseline anorectal manometry (ARM) parameters and physiotherapy with anorectal biofeedback (BF) treatment. METHODS: One hundred fifteen patients (74 males, age 63 ± 11) who underwent low anterior resection surgery for rectal cancer were included in the study. Following surgery, patients were managed by surgical and oncologic team, with more symptomatic LARS patients referred for further evaluation and treatment by gastroenterologists. At follow up, patients were contacted and offered participation in a long term follow up by answering symptom severity and quality of life (QOL) questionnaires. RESULTS: 80 (70%) patients agreed to participate in the long term follow up study (median 4 years from stoma reversal, range 1-8). Mean time from surgery to stoma closure was 6 ± 4 months. At long term follow up, mean LARS score was 30 (SD 11), with 55 (69%) patients classified as major LARS (score > 30). Presence of major LARS was associated with longer time from surgery to stoma reversal (6.8 vs. 4.8 months; p = 0.03) and with adjuvant chemotherapy (38% vs. 8%; p = 0.01). Patients initially referred for ARM and BF were more likely to suffer from major LARS at long term follow up (64% vs. 16%, p < 0.001). In the subgroup of patients who underwent perioperative ARM (n = 36), higher maximal squeeze pressure, higher maximal incremental squeeze pressure and higher rectal pressure on push were all associated with better long-term outcomes of QOL parameters (p < 0.05 for all). 21(54%) of patients referred to ARM were treated with BF, but long term outcomes for these patients were not different from those who did not perform BF. CONCLUSIONS: A significant number of patients continue to experience severe symptoms and a decline in their quality of life even 4 years after undergoing low anterior resection surgery. Prolonged time until stoma reversal and adjuvant chemotherapy emerged as the primary risk factors for a negative prognosis. It is important to note that referring patients for anorectal physiology testing alone tended to predict poorer long-term outcomes, indicating the presence of selection bias. However, certain measurable manometric parameters could potentially aid in identifying patients who are at a higher risk of experiencing unfavorable functional outcomes. There is a critical need to enhance current treatment options for this patient group.


Assuntos
Neoplasias Retais , Masculino , Humanos , Pessoa de Meia-Idade , Idoso , Neoplasias Retais/cirurgia , Neoplasias Retais/complicações , Qualidade de Vida , Seguimentos , Complicações Pós-Operatórias/etiologia , Complicações Pós-Operatórias/terapia , Síndrome , Reto/cirurgia , Fatores de Risco
2.
East Mediterr Health J ; 21(8): 584-90, 2015 Sep 28.
Artigo em Inglês | MEDLINE | ID: mdl-26446530

RESUMO

Data on the economic burden of rotavirus infection in Tunisia are needed to inform the decision to include rotavirus in routine childhood immunizations. This study aimed to describe the epidemiological profile of rotavirus disease in central-east Tunisia and to estimate its hospital cost. In the first stage - the prospective collection of epidemiological data - we enrolled all patients < 5 years old who were hospitalized for acute diarrhoea at 5 university paediatric departments in central-east Tunisia during the period 2009-2011. Rotavirus was responsible for 65 (23.3%) of the 279 cases enrolled. In the second stage, cost data were collected retrospectively using an activity-based costing method from the medical records of the children who were positively diagnosed with rotavirus. The average cost of care per child was TD 433 (SD 134). This is a significant economic burden in Tunisia, where a safe and effective vaccine is available but not yet introduced to the immunization schedule.


Assuntos
Gastroenterite/epidemiologia , Gastroenterite/virologia , Hospitalização/economia , Infecções por Rotavirus/epidemiologia , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Estudos Prospectivos , Estudos Retrospectivos , Tunísia/epidemiologia
3.
J Fish Dis ; 37(10): 891-8, 2014 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-24422558

RESUMO

Hafnia alvei was isolated in Bulgaria from healthy noble crayfish, Astacus astacus (L.), and then from farmed diseased brown trout, Salmo trutta L., with signs of haemorrhagic septicaemia. The isolates were identified initially with conventional phenotyping and commercial Merlin Micronaut and API 20E rapid identification systems, followed by sequencing of the 16S rRNA gene. Hafnia alvei Bt1, Bt2 and Aa4 were of low virulence to rainbow trout and brown trout, although cytotoxicity was demonstrated by Bt1 and Bt2, but not by Aa4.


Assuntos
Astacoidea/parasitologia , Hafnia alvei/isolamento & purificação , Hafnia alvei/fisiologia , Truta/parasitologia , Animais , Bulgária , Genes Bacterianos/genética , Hafnia alvei/genética , Hafnia alvei/patogenicidade , RNA Ribossômico 16S/genética
4.
Tunis Med ; 91(12): 715-23, 2013 Dec.
Artigo em Francês | MEDLINE | ID: mdl-24458675

RESUMO

UNLABELLED: Crohn's disease occur mainly in adults. However, pediatric onset forms are not rare and have many characteristics. AIM: to study clinical, diagnostic, therapeutic and evolutive characteristics of crohn's disease in tunisian children. METHODS: Retrospective multicenter study conducted in 10 pediatric departments on a period of 10 years (2000-2008) RESULTS : 43 children were included. The sex-ratio was 1.68. The mean age at the onset of the symptoms was 11+/-2.3 years (5-16 years). The age of onset was inferior to 10 years in 25 % of the children. The delay before management was superior to 1 year in 25% of cases. The initial symptoms were dominated by diarrhea (95%). Perineal manifestations were present at diagnosis in 30% of children and extra-digestive manifestations in 53%. Ileocolonic localization was the most frequent (46%). The initial disease flare was moderate in 83% of cases. The treatment was medical in 77 % of cases, nutritional and medical in 18.5%. Maintenance therapy was instituted in 86% of cases and consisted essentially in azathioprin (62%). The mean follow-up was 3 years and 4 months. 60% of the children had at least one acute flare. During evolution, 7% of children had anoperineal surgery and 11% an intestinal resection. CONCLUSION: Crohn's disease seems rare in Tunisia. The time of diagnosis is often delayed. The management is based on immunosuppressive therapy and nutritional support.


Assuntos
Doença de Crohn , Adolescente , Criança , Pré-Escolar , Doença de Crohn/epidemiologia , Doença de Crohn/etiologia , Doença de Crohn/terapia , Progressão da Doença , Feminino , Humanos , Masculino , Estudos Retrospectivos , Fatores de Risco , Tunísia/epidemiologia
5.
J Nanosci Nanotechnol ; 12(8): 6368-73, 2012 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-22962750

RESUMO

A facile, reliable, reproducible and ultra-high sensitive aqueous ammonia chemical sensor has been fabricated based on the utilization of La(0.7)Sr(0.3)MnO3 nanoparticles (LSMO NPs), as efficient electron mediators, and reported in this paper. The LSMO NPs were prepared by hydrothermal protocol followed by the annealing process and characterized in detail in terms of their mophological, structural and compositional properties. The I-V technique based aqueous ammonia sensor exhibits an ultra-high sensitivity of 494.68 +/- 0.01 microA cm(-2)mM(-1) and very low-detection limit of 0.2 microM with a response time less than 10 s. To the best of our knowledge, this is the first report in which LSMO is used as an efficient electron mediator for the fabrication of aqueous ammonia chemical sensor. Moreover, by comparing the literature, it is confirmed that the fabricated sensor exhibits highest sensitivity towards the detection of aqueous ammonia. This LSMO nanomaterial based research broadens the range of efficient electron mediators utilized for the fabrication of ultra-high sensitive chemical sensors.

6.
Rev Epidemiol Sante Publique ; 60(6): 473-80, 2012 Dec.
Artigo em Francês | MEDLINE | ID: mdl-23141818

RESUMO

BACKGROUND: Rotavirus is the major cause of severe acute gastroenteritis among young children. The objectives of this study were to assess the epidemiology, clinical and virological features of community-acquired rotavirus acute gastroenteritis, in children under 5 years of age, hospitalized in Tunisia. METHODS: A multicenter prospective observational study was conducted from April 2009 to March 2011, in 11 sentinel pediatric departments. Clinical data and stool samples were collected for all children under 5 years, admitted for acute gastroenteritis. Rotavirus was detected by Elisa immunoassay test and genotyped for G and P by semi-nested multiplex RT-PCR. RESULT: A total of 621 children were enrolled in this study. Rotavirus was detected in 30.3% of cases (95% CI [26.7-33.9]). The estimated incidence rate of rotavirus acute gastroenteritis was 11 cases/100,000 child-years (95% CI [9.43-12.57]). This infection affected predominantly children aged under 24 months, and occurred mainly in winter (55.3%). Vomiting, fever and dehydration were observed in 79.6%, 69.5% and 57% respectively. Genotype analysis identified four G types (G1, G2, G3 and G4) and 4 P types (P[4], P[6], P[8] and P[9]). The most common G/P combination was G3P[8] (24.4%), followed by G4P[8] (13.3%) and G1P[8] (6.5%). CONCLUSION: These results highlight the frequency and potential severity of rotavirus acute gastroenteritis in pediatric hospital settings. The present study could provide a sufficient database to make a decision related to the introduction of rotavirus vaccine in Tunisian national immunization program.


Assuntos
Gastroenterite/epidemiologia , Infecções por Rotavirus/epidemiologia , Rotavirus/genética , Pré-Escolar , Ensaio de Imunoadsorção Enzimática , Feminino , Gastroenterite/genética , Gastroenterite/virologia , Genótipo , Hospitalização , Humanos , Lactente , Recém-Nascido , Masculino , Reação em Cadeia da Polimerase , Estudos Prospectivos , Infecções por Rotavirus/genética , Tunísia/epidemiologia
7.
Pathol Biol (Paris) ; 59(4): e79-83, 2011 Aug.
Artigo em Francês | MEDLINE | ID: mdl-19896286

RESUMO

BACKGROUND: Rotaviruses are the most frequent agents associated with diarrhoea in children worldwide. Analysis of mobility of the 11 segments of genomic RNA by polyacrylamide gel electrophoresis (PAGE) yields a pattern which is characteristic for a particular rotavirus isolate. The group A rotaviruses can be further characterized by analysis of VP7 and VP4 genes specificities, responsible for rotavirus classification into G and P genotypes, respectively. The aim of the present study was to determine the evolution of group A Rotavirus strains circulating in Tunisia over a 3-year period (2005-2007). MATERIAL AND METHODS: A total of 1503 stool samples collected from children less than five years old, consulting or hospitalised in Tunisia for diarrhoea between 2005 and 2007, were screened for the presence of group A Rotaviruses. Rotavirus-positive specimens were further analyzed by PAGE and G/P-genotyped by multiplex semi-nested RT-PCR. RESULTS: Rotaviruses were detected in 323 stool samples over 1503 (21 %). Long electropherotypes predominated in Tunisia during the whole period of study (N=158 vs N=82 short electropherotypes). VP7 genotyping showed the cocirculation of five different genotypes: G1, G2, G3, G4 and G9. VP4 typing detected four different P-genotypes: P[8], P[4], P[6] and P[11]. Rotavirus strains with G3P[8] specificity were predominating in Tunisia in 2005 and 2006, replaced by G2P[4] strains in 2007.


Assuntos
Rotavirus/classificação , Rotavirus/genética , Antígenos Virais/genética , Proteínas do Capsídeo/genética , Pré-Escolar , Diarreia/virologia , Fezes/virologia , Genótipo , Humanos , Lactente , Recém-Nascido , RNA Viral/análise , Tunísia
8.
Pathol Biol (Paris) ; 59(3): e43-8, 2011 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-19481882

RESUMO

BACKGROUND: Rotaviruses are the most frequent agents associated with diarrhoea in children worldwide. Analysis of mobility of the 11 segments of genomic RNA by polyacrylamide gel electrophoresis (PAGE) yields a pattern which is characteristic for a particular rotavirus isolate. The group A rotaviruses can be further characterized by analysis of VP7 and VP4 genes specificities, responsible for rotavirus classification into G and P genotypes, respectively. The aim of the present study was to detect a relationship between electropherotype pattern and molecular characteristics of the rotavirus strains. MATERIAL AND METHODS: Were analyzed 278 rotavirus-positive specimens by PAGE and G/P-genotyped by multiplex semi-nested RT-PCR. Pearson's correlation tests were used for statistical analysis. RESULTS: Twelve different electropherotypes were visualized, eight with a long profile (186 cases) and four with a short one (87 cases). Concerning VP7 types, G2 viral strains were found to be predominant and were detected in 91 specimens (32.7%). Strains with G1, G3, G4, G8 and G9 specificities were detected in 62 (22.3%), 82 (29.5%), 13 (4.7%), two (0.7%) and seven cases (2.5%), respectively. The results of VP4 genotyping showed a predominance of P[8] genotype which comprised half of the strains identified (139 cases, 50%). VP4 P[4], P[6] and P[11] were found in 83 (29.9%), 31 (11.1%) and 11 (4.0%) specimens, respectively. A high rate of mixed strains was also found (1.8% mixed electropherotypes, 7.6% G-mixed and 5% P-mixed strains). Electropherotype pattern of rotavirus strains was significantly correlated with VP7 genotype (p=0.018) and with VP4 genotype specificities (p<0.001).


Assuntos
Antígenos Virais/análise , Proteínas do Capsídeo/análise , Diarreia/virologia , RNA Viral/análise , Infecções por Rotavirus/virologia , Rotavirus/isolamento & purificação , Antígenos Virais/genética , Proteínas do Capsídeo/genética , Criança , Diarreia/epidemiologia , Eletroforese em Gel de Poliacrilamida , Fezes/virologia , Genótipo , Humanos , RNA Viral/genética , Rotavirus/química , Rotavirus/classificação , Rotavirus/genética , Infecções por Rotavirus/epidemiologia , Coloração pela Prata , Tunísia/epidemiologia
9.
Gastroenterol Clin Biol ; 34(8-9): 483-7, 2010 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-20655155

RESUMO

AIMS: The purpose of this study was to determine the sensitivity and specificity of IgA anti-actin antibodies (IgA-AAA) for celiac disease (CD), to investigate their usefulness as a marker of compliance in CD patients to the gluten-free diet (GFD), and to assess the relationship between their presence in the sera of CD patients and severity of intestinal mucosal damage. PATIENTS AND METHODS: A total of 182 patients with CD were studied: 63 patients were untreated; 50 patients were following a strict GFD; and 69 patients were non-compliant with a GFD. IgA-AAA was detected using a homemade enzyme-linked immunosorbent assay (ELISA). RESULTS: IgA-AAA showed a sensitivity of 41.3% and a specificity of 71.4% for a diagnosis of CD. In children, the frequency of IgA-AAA detection was lower in those following a strict GFD (23.1%) compared with untreated patients (39.4%) and those not complying with a GFD (32.5%). In patients following a strict GFD, IgA-AAA detection was significantly less frequent in children than in adults (23.1% vs. 58.3%, respectively; P<0.001). IgA-AAA was found in 17 out of 52 CD patients with total villous atrophy (32.7%), and in one out of 11 patients with subtotal villous atrophy (9%). CONCLUSION: IgA-AAA cannot replace anti-endomysium and anti-tissue transglutaminase antibodies in the diagnosis algorithm of CD, but it can serve as a reliable marker of severe intestinal mucosal damage in CD patients.


Assuntos
Actinas/imunologia , Autoanticorpos/sangue , Doença Celíaca/diagnóstico , Doença Celíaca/imunologia , Imunoglobulina A/sangue , Mucosa Intestinal/patologia , Adolescente , Adulto , Biomarcadores/sangue , Doença Celíaca/dietoterapia , Distribuição de Qui-Quadrado , Criança , Pré-Escolar , Dieta Livre de Glúten , Ensaio de Imunoadsorção Enzimática , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Cooperação do Paciente , Sensibilidade e Especificidade , Índice de Gravidade de Doença , Tunísia , Adulto Jovem
10.
Pathol Biol (Paris) ; 57(5): 398-402, 2009 Jul.
Artigo em Francês | MEDLINE | ID: mdl-18834675

RESUMO

Antineutrophil cytoplasmic antibodies are classical serological markers of small-vessels vasculitis. However, they have been described in many other pathological situations. The aim of this study was to determine through our experience, the main antineutrophil cytoplasmic antibodies-associated diseases and to investigate antigen targets of these antibodies. Forty complete observations of antineutrophil cytoplasmic antibodies (ANCA) positive patients either by indirect immunofluorescence or by enzyme immunoassay were analysed. Only five (12.5%) patients have small-vessels vasculitis. Among these, antineutrophil cytoplasmic antibodies were detected only by Elisa in one patient and they were exclusively directed against bactericidal permeability increasing protein in another one. Our study confirms the presence of antineutrophil cytoplasmic antibodies in different diseases. It demonstrates that antineutrophil cytoplasmic antibodies should be investigated by Elisa when indirect immunofluorescence is negative. In small-vessels vasculitis, Proteinase 3 and myeloperoxidase are mainly but not exclusively the antigenic targets of antineutrophil cytoplasmic antibodies.


Assuntos
Anticorpos Anticitoplasma de Neutrófilos/imunologia , Doenças Autoimunes/imunologia , Vasculite/imunologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Anticorpos Anticitoplasma de Neutrófilos/sangue , Autoantígenos/imunologia , Doenças Autoimunes/sangue , Criança , Doenças do Tecido Conjuntivo/sangue , Doenças do Tecido Conjuntivo/imunologia , Ensaio de Imunoadsorção Enzimática , Feminino , Técnica Indireta de Fluorescência para Anticorpo , Humanos , Infecções/sangue , Infecções/imunologia , Inflamação/sangue , Inflamação/imunologia , Masculino , Programas de Rastreamento , Pessoa de Meia-Idade , Mieloblastina/imunologia , Peroxidase/imunologia , Tiouracila/efeitos adversos , Tiouracila/análogos & derivados , Vasculite/sangue , Adulto Jovem
11.
Arch Pediatr ; 16(3): 260-8, 2009 Mar.
Artigo em Francês | MEDLINE | ID: mdl-19195856

RESUMO

Idiopathic nephrotic syndrome (INS) is the most frequent glomerular nephropathy in children. The response to corticoids distinguishes steroid-sensitive nephrotic syndrome (SSINS), by far the most frequent (90% of cases), from steroid-resistant nephrotic syndrome (SRINS). The steroid resistance of nephrotic syndrome is defined by the absence of remission after a full dose of oral corticosteroid therapy for 1 month followed by 3 pulses of intravenous methylprednisolone. Actually, INS constitutes a heterogeneous nosologic entity. Currently, within the SRINS, there are 2 forms that vary greatly in their physiopathology and prognostics: immunologic or sporadic forms, which can be improved by immunosuppressive agents and the genetic or familial forms, which do not respond to any immunosuppressive therapy and usually evolve to end-stage renal insufficiency. In these genetic forms, renal transplantation is the only therapeutic alternative. The aim of this article is to review treatment of SRINS and to propose a management strategy.


Assuntos
Corticosteroides/efeitos adversos , Síndrome Nefrótica/terapia , Corticosteroides/administração & dosagem , Resistência a Medicamentos , Inibidores Enzimáticos/uso terapêutico , Humanos , Técnicas de Imunoadsorção , Imunossupressores/uso terapêutico , Transplante de Rim , Plasmaferese
13.
J Magn Reson ; 287: 113-122, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-29335164

RESUMO

A novel slice-selective T1-T2 measurement is proposed to measure spatially resolved T1-T2 distributions. An adiabatic inversion pulse is employed for slice-selection. The slice-selective pulse is able to select a quasi-rectangular slice, on the order of 1 mm, at an arbitrary position within the sample.The method does not employ conventional selective excitation in which selective excitation is often accomplished by rotation of the longitudinal magnetization in the slice of interest into the transverse plane, but rather a subtraction based on CPMG data acquired with and without adiabatic inversion slice selection. T1 weighting is introduced during recovery from the inversion associated with slice selection. The local T1-T2 distributions measured are of similar quality to bulk T1-T2 measurements. The new method can be employed to characterize oil-water mixtures and other fluids in porous media. The method is beneficial when a coarse spatial distribution of the components is of interest.

14.
Arch Pediatr ; 14(8): 1003-6, 2007 Aug.
Artigo em Francês | MEDLINE | ID: mdl-17543509

RESUMO

UNLABELLED: Mycoplasma pneumoniae infection is associated with various manifestations involving the central nervous system but it has never been reported as a potential aetiology of opsoclonus-myoclonus syndrome (OMS) in children. OBSERVATION: We report on a case in a 4-year-old girl who presented neurological manifestations compatible with an OMS, after a respiratory tract disease. Aetiological investigations revealed M. pneumoniae infection as specific IgM were present in the serum (Elisa). Evolution after corticosteroid, intravenous immunoglobulins and macrolide therapy was favourable as clinical symptoms disappeared. After a 12-month follow-up, the patient has no neurological sequela. CONCLUSION: M. pneumoniae infection should be added to the list of causes to be screened in OMS. Its pathophysiology remains unknown but may involve a dysimmune postinfectious mechanism.


Assuntos
Mycoplasma pneumoniae/isolamento & purificação , Síndrome de Opsoclonia-Mioclonia/microbiologia , Pneumonia por Mycoplasma/complicações , Corticosteroides/uso terapêutico , Pré-Escolar , Feminino , Humanos , Imunoglobulinas Intravenosas/uso terapêutico , Macrolídeos/uso terapêutico , Metilprednisolona/uso terapêutico , Síndrome de Opsoclonia-Mioclonia/tratamento farmacológico , Pneumonia por Mycoplasma/tratamento farmacológico
15.
Arch Pediatr ; 14(4): 334-7, 2007 Apr.
Artigo em Francês | MEDLINE | ID: mdl-17187969

RESUMO

OBJECTIVE: Despite advances in antibiotic therapy strategies and pediatric intensive care, prognosis of Streptococcus pneumoniae meningitis remains very poor. To determine the factors associated with hospital mortality of children with pneumococcal meningitis. METHODS: We conducted a retrospective study of 73 cases of childhood pneumococcal meningitis admitted in 4 teaching hospitals in the center of Tunisia during a 8-year period (1995-2002). RESULTS: Hospital mortality was 13.7% (10 of 71 patients), and neurologic sequela were observed in 34.5% of survivors. Based on univariable analysis, five variables were associated with the outcome: Pediatric Risk of Mortality score (p < 0.001), coma (p=0.0009), use of mechanical ventilation (p=0.0001), convulsions (p = 0.0449), and shock (p=0.0085). In multivariable analysis, only 2 factors were independently associated with in-hospital mortality: Pediatric Risk of Mortality score and the use of mechanical ventilation. 11.8% of pneumococcal isolates were intermediate and resistant to penicillin. Non-susceptible pneumococcus strains to penicillin and the use of steroids were not associated significantly with the mortality rate. CONCLUSIONS: Pneumococcal meningitis remains a devastating childhood disease. Two variables were independently associated with the in-hospital death in our series (high Pediatric Risk of Mortality score, and the use of mechanical ventilation). According to these data we may recommend the inclusion of vaccination against streptococcus pneumonia in the children's immunization program in Tunisia.


Assuntos
Causas de Morte , Meningite Pneumocócica/mortalidade , Adolescente , Antibacterianos/uso terapêutico , Dano Encefálico Crônico/diagnóstico , Dano Encefálico Crônico/etiologia , Dano Encefálico Crônico/mortalidade , Criança , Pré-Escolar , Feminino , Mortalidade Hospitalar , Hospitais Pediátricos , Humanos , Lactente , Recém-Nascido , Masculino , Meningite Pneumocócica/diagnóstico , Meningite Pneumocócica/tratamento farmacológico , Resistência às Penicilinas , Prognóstico , Medição de Risco , Tunísia
16.
PLoS One ; 12(5): e0176664, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28505210

RESUMO

Celiac disease (CD), a multi-factorial auto-inflammatory disease of the small intestine, is known to occur in both sporadic and familial forms. Together HLA and Non-HLA genes can explain up to 50% of CD's heritability. In order to discover the missing heritability due to rare variants, we have exome sequenced a consanguineous Saudi family presenting CD in an autosomal recessive (AR) pattern. We have identified a rare homozygous insertion c.1683_1684insATT, in the conserved coding region of AK5 gene that showed classical AR model segregation in this family. Sequence validation of 200 chromosomes each of sporadic CD cases and controls, revealed that this extremely rare (EXac MAF 0.000008) mutation is highly penetrant among general Saudi populations (MAF is 0.62). Genotype and allelic distribution analysis have indicated that this AK5 (c.1683_1684insATT) mutation is negatively selected among patient groups and positively selected in the control group, in whom it may modify the risk against CD development [p<0.002]. Our observation gains additional support from computational analysis which predicted that Iso561 insertion shifts the existing H-bonds between 400th and 556th amino acid residues lying near the functional domain of adenylate kinase. This shuffling of amino acids and their H-bond interactions is likely to disturb the secondary structure orientation of the polypeptide and induces the gain-of-function in nucleoside phosphate kinase activity of AK5, which may eventually down-regulates the reactivity potential of CD4+ T-cells against gluten antigens. Our study underlines the need to have population-specific genome databases to avoid false leads and to identify true candidate causal genes for the familial form of celiac disease.


Assuntos
Adenilato Quinase/genética , Alelos , Doença Celíaca/genética , Consanguinidade , Exoma , Variação Genética , Sequenciamento de Nucleotídeos em Larga Escala , Adenilato Quinase/química , Mapeamento Cromossômico , Biologia Computacional , Evolução Molecular , Feminino , Genótipo , Humanos , Ligação de Hidrogênio , Padrões de Herança , Masculino , Modelos Moleculares , Mutação , Linhagem , Penetrância , Conformação Proteica , Arábia Saudita
17.
Rev Med Interne ; 27(10): 791-3, 2006 Oct.
Artigo em Francês | MEDLINE | ID: mdl-16978747

RESUMO

INTRODUCTION: Down syndrome is a favourable land to the emergence of auto-immune disease. CASE RECORD: Graves' disease and celiac disease were diagnosed in a 16 years old adolescent with Down syndrome presenting chronic diarrhoea, important delayed development and signs of hyperthyroidism. DISCUSSION: Celiac disease and thyroid dysfunction would be screening in patient with Down syndrome.


Assuntos
Doença Celíaca/complicações , Síndrome de Down/complicações , Doença de Graves/complicações , Adolescente , Doença Celíaca/diagnóstico , Síndrome de Down/diagnóstico , Feminino , Doença de Graves/diagnóstico , Humanos
18.
Arch Pediatr ; 13(1): 41-3, 2006 Jan.
Artigo em Francês | MEDLINE | ID: mdl-16289782

RESUMO

Renal cell carcinoma is rare in children and is usually found in late childhood. The authors report on an exceptional case of renal cell carcinoma in a 10-year-old girl. The radiological aspect is misleading and has not been previously reported in the literature. Renal cortex was thin because of congenital megalo-ureter, so the tumor developed entirely into excretory cavities (to the proximal ureter), while a primitive urothelial disease (tumoral or inflammatory) was first evoked. The atrophied cortex was the tumoral starting point which prolapsed into excretory cavities, upraising the urothelial epithelium.


Assuntos
Carcinoma de Células Renais/diagnóstico por imagem , Neoplasias Renais/diagnóstico por imagem , Doenças Ureterais/diagnóstico por imagem , Idade de Início , Atrofia , Criança , Diagnóstico Diferencial , Feminino , Humanos , Córtex Renal/patologia , Radiografia , Doenças Ureterais/etiologia
19.
Med Mal Infect ; 36(7): 390-2, 2006 Jul.
Artigo em Francês | MEDLINE | ID: mdl-16872776

RESUMO

OBJECTIVE: The authors had for aim to determine the role of leukoconcentration in the diagnosis of visceral leishmaniosis in immunocompetent children. MATERIALS AND METHODS: A study was made on leukoconcentration in blood samples of 84 immunocompetent children presenting with visceral leishmaniosis, hospitalised in the paediatric units of Sousse and Kairouan (Tunisian center) between April 1996 and March 2005. RESULTS: The study group included 34 girls and 50 boys (sex-ratio = 1.47) aged six months to ten years. In this group, 47 patients (56%) presented with positive leukoconcentration. The number of leishmania detected ranged from 1 to 64 per slide; parasitism of PMN leucocytes was noted in nearly half of the cases. CONCLUSION: Parasitemia is frequent in the Mediterranean Kala-azar; therefore leukoconcentration on peripheral blood can be proposed as a first intention examination for the diagnosis of visceral leishmaniosis in immunocompetent children.


Assuntos
Leishmaniose Visceral/sangue , Leishmaniose Visceral/diagnóstico , Contagem de Leucócitos , Criança , Humanos , Pacientes Internados , Tunísia
20.
J Assoc Physicians India ; 53: 937-41, 2005 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-16515231

RESUMO

OBJECTIVE: Pregnancy is infrequent in women with end-stage renal disease. The frequency of conception in dialysis patients has been reported as 0.3% to 1.4% in different studies from different countries. In the present study the frequency and outcome of pregnancies from a referral center in Saudi Arabia from January 1992 to December 2003 is reported. METHODS: All females on maintenance hemodialysis (MHD) and chronic peritoneal dialysis (CPD) were reviewed. Files of the patients in childbearing age (less than 50 years) were analyzed for the frequency of pregnancy, mode of dialysis, complications and outcome. Of the 192 females taken for MHD and CPD, 113 were of the childbearing age. Five patients were already on HD when they became pregnant, the period on HD varied from 7-34 (mean = 24) months and in 4 dialysis was initiated during first pregnancy. (Abortion was defined as termination of pregnancy before 22 weeks of gestation. Perinatal mortality was taken as death of a viable fetus after 22 weeks of gestation or within 4 weeks after delivery. Preterm was defined as delivery before 37 weeks of gestation and low birth weight as a baby weighing less than 2500 gm at birth). RESULTS: Twelve pregnancies were noted in 9 patients (7.9%) with a yearly frequency of 0.66%. All pregnancies were noted in patients on MHD and none on CPD. Seven pregnancies (58%) ended in live births and all were preterm deliveries in the range of 27-36 (mean 31.5) weeks. All babies were low birth weight ranging from 1115-2300 (mean 1700) gram. Three deliveries were spontaneous vaginal and 4 underwent lower segment cesarean sections. Two deliveries ended in perinatal mortality. Three pregnancies ended in spontaneous abortions between 10-20 (mean 12) weeks. One woman had 3 pregnancies, the last one ending in antepartum hemorrhage, hysterotomy and hysterectomy for rupture of uterus. Another patient had 2 pregnancies. No congenital abnormalities were noted in any of the live births. CONCLUSION: Pregnancy though uncommon in women on dialysis can occur. Preterm deliveries with low birth weight are usual though live birth rate of 58% was observed. In view of the need for increased frequency of dialysis for successful outcome, planning the pregnancy and high chances of dangerous complications, early diagnosis of pregnancy in a patient on dialysis essential.


Assuntos
Falência Renal Crônica/terapia , Complicações na Gravidez/etiologia , Resultado da Gravidez , Nascimento Prematuro , Diálise Renal , Adolescente , Adulto , Feminino , Humanos , Falência Renal Crônica/complicações , Pessoa de Meia-Idade , Gravidez , Gravidez de Alto Risco , Medição de Risco , Fatores de Risco , Arábia Saudita
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