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1.
Malaysian Journal of Nutrition ; : 379-399, 2023.
Artigo em Inglês | WPRIM | ID: wpr-1005405

RESUMO

@#Introduction: Stunting, or linear growth failure, is defined by a height-for-age z-score of below -2SD according to WHO growth standard. Stunting can have short-, medium-, and long-term consequences. Rivers have an important role in human life. In several riverside areas, households still depend on the river for their livelihoods and health. This study aimed to explore the prevalence of stunting in children living by the riverside and its related factors. Methods: Epidemiological studies published from PUBMED, MEDLINE via EBSCOHost, Science Direct, ProQuest, and Research Gate databases were systematically searched. The publication period was not restricted. Only open-access and English articles were examined. Results: A total of 20 from 1200 studies were reviewed. The prevalence of stunting ranged from 20% to 48.3%. The other outcomes besides stunting were wasting and underweight status. There were 83 risk factors studied, and the most studied variables were age, gender, diarrhoea, water source, parent’s education, immunisation, and inappropriate complementary feeding practices (6 to 13 studies). Household water sources from rivers and economic status were consistently correlated with stunting. Majority of the risk factors studied were related to nutrition. From the environmental aspect, the most studied risk factors were water sources and sanitation. Conclusion: Children living by the riverside face a significant risk of stunting attributed to the consistent correlation between household water sources from rivers and economic status, affecting various aspects of daily life beyond drinking water. Future research is needed to examine the impact of environmental factors and the behaviours of riverside communities.

2.
Prensa méd. argent ; 108(6): 327-331, 20220000. tab
Artigo em Inglês | LILACS, BINACIS | ID: biblio-1397211

RESUMO

La normalización del nivel de LDH en sangre se asocia con una mejor supervivencia en muchos estudios realizados en adultos, en niños y recién nacidos. El estudio tuvo como objetivo estimar la LDH para diferentes grupos de edad de pediatría. Se realizó un estudio observacional en Pediatrics Ward, Hospital General de Abu Ghraib, de enero de 2018 a diciembre de 2019. La muestra de estudio incluyó a 250 niños, su edad osciló entre 1 día y 16 años. Se calcularon los niños de ambos género con estos grupos de edad admitidos en Ward, y se calcularon LDH en sangre. La historia materna, la fiebre, la infección umbilical, la sollozo, la hipoxia, la sepsis y el síndrome de dificultad respiratoria (RDS) se documentaron en consecuencia. LDH medido como siguió: Recién nacido: 160 a 450 unidades por litro (unidades/L) y niño: 60 a 170 unidades/l. Dividimos la muestra a dos grupos, bebés recién nacidos (1 día a 1 año) y CHID (> 1 año a 16 años), y se documentaron las variables de estudio. La correlación de concentración y variables de LDH calculada. Se confirma el valor pronóstico del monitoreo de LDH en suero en serie para predecir la morbilidad y la mortalidad en los niños enfermos. Hay una correlación, aunque muy clara, entre los niveles de LDH en plasma con infección, asfixia y RDS


Normalisation of blood LDH level is associated with improved survival in many studies conducted in adults, in children and neonate. The study aimed to estimate the LDH for different pediatrics age groups. An observational study was conducted at Pediatrics ward, Abu Ghraib General Hospital, from January 2018 to December 2019. Study sample included 250 children; their age ranged from 1 day to 16 years. Children of both gender with these age groups admitted to ward, and blood LDH were calculated. The maternal history, fever, umbilical infection, SOB, hypoxia, sepsis, and respiratory distress syndrome (RDS) were documented accordingly. LDH measured as followed: New born: 160 to 450 units per litre (units/L) and child: 60 to 170 units/L. We divided sample to two-groups, newborn babies (1 day to 1 year) and chid (>1 year to 16 years), and the study variables were documented. The LDH concentration and variables correlation calculated. The prognostic value of serial serum LDH monitoring for predicting morbidity and mortality in sick children is confirmed. There is a correlation, although very clear, between the plasma LDH levels with infection, asphyxia, and RDS


Assuntos
Humanos , Masculino , Feminino , Recém-Nascido , Lactente , Pré-Escolar , Criança , Adolescente , Síndrome do Desconforto Respiratório do Recém-Nascido/prevenção & controle , Lactato Desidrogenases , Hipóxia
3.
Journal of Clinical Neurology ; : 214-222, 2022.
Artigo em Inglês | WPRIM | ID: wpr-925205

RESUMO

Background@#and Purpose Warburg Micro syndrome (WARBM) is a rare autosomal recessive genetic disease characterized by ocular, neurologic, and endocrine anomalies. WARBM is a phenotypically and genetically heterogeneous syndrome caused by mutations in RAB3GAP1, RAB3GAP2, RAB18, and TBC1D20. Here we present the clinical and genetic characterization of a consanguineous Tunisian family with a WARBM phenotype presenting two pathogenic variations, one of which is on RAB3GAP1. @*Methods@#We applied whole-exome sequencing (WES) to two affected young males presenting a WARBM-compatible phenotype. @*Results@#We reveal a new variation in RAB3GAP1 (NM_012233.3: c.297del, p.Gln99fs) and another variation in ABCD1 (NM_000033: c.896A>G, p.His299Arg). Each of these mutations, which in silico predictions concluded as being pathogenic variations, affects a critical protein region. Both affected males presented a WARBM-compatible phenotype, with severe intellectual disability, severe developmental delay, postnatal growth delay, postnatal microcephaly, congenital bilateral cataracts, general hypotonia, and a thin corpus callosum without a splenium. However, intrafamilial clinical heterogeneity was present, since only the oldest child had large ears, microphthalmia, foot deformities, and a genital anomaly, and only the youngest child had microcornea. Despite the mutation identified in ABCD1, our patients did not have any Xlinked symptoms of adrenoleukodystrophy disorder that are usually caused by ABCD1 mutations, which prompted our interest in clinical monitoring. @*Conclusions@#WES analysis of a consanguineous Tunisian family with WARBM revealed a novel variation in RAB3GAP1 (NM_012233.3: c.297del, p.Gln99fs) that is most likely pathogenic and allowed us to confirm the diagnosis of WARBM.

4.
Prensa méd. argent ; 107(4): 240-244, 20210000. tab, graf
Artigo em Inglês | LILACS, BINACIS | ID: biblio-1359454

RESUMO

Antecedentes: La desnutrición es un importante problema de salud en el grupo de edad de pediatría que contribuye a aumentar la mortalidad y morbilidad de los pacientes ingresados. Pacientes y método: Estudio descriptivo, aleatorizado, transversal de 2965 casos entre 6 y 60 meses de los cuales 500 casos tenían desnutrición desde el 15 de noviembre de 2019 al 31 de enero de 2020, datos hospitalarios para evaluar la incidencia de desnutrición aguda severa y desnutrición aguda moderada y leve. Desnutrición y su relación con algunos factores sociodemográficos (trabajo paterno, peso al nacer, tipo de alimentación, edad, sexo). Resultados: la incidencia de desnutrición aguda severa es 1%, la incidencia de desnutrición aguda moderada es 10% y desnutrición leve 27% de la muestra de pacientes tomada 469 pacientes existe una fuerte relación de todos los grados de desnutrición con la edad paterna y bajo nacimiento peso con alguna relación con el tipo de alimentación. Conclusiones: si bien la incidencia de desnutrición aguda severa ha disminuido en los últimos años en el hospital universitario de Karbala, existe un marcado aumento en la incidencia de desnutrición aguda moderada y desnutrición leve con su impacto en la salud pediátrica general en cuanto a morbilidad y mortalidad se deben tomar esfuerzos para manejar la desnutrición aguda moderada y desnutrición leve ofreciendo asesoramiento y apoyo nutricional especialmente en personas que no son Empleadores gubernamentales.


Background: Malnutrition is a major health problem in pediatrics age group contribute to increase mortality and morbidity of admitted patients. Patients and method: A descriptive randomized cross sectional study of 2965 cases between 6 -60 months from which 500 cases had malnutrition from15th of November 2019 to 31st of January 2020 hospital-based data to evaluate incidence of sever acute malnutrition and moderate acute malnutrition and mild malnutrition and its relation to some sociodemographic factors (paternal job, birth weight, type of feeding, age, sex). Results: the incidence of severe acute Malnutrition is 1%, the incidence of moderate acute malnutrition is 10% and mild malnutrition 27% from the sample of patients taken 469 patients there is a strong relationship of all degree of malnutrition to paternal age and low birth weight with some relation to type of feeding. Conclusions: while the incidence of severe acute malnutrition has been decreased last years In Karbala teaching hospital, there is marked increase in incidence of moderate acute malnutrition and mild malnutrition with their impact on general pediatric health regarding morbidity and mortality efforts should be taken to manage the moderate acute malnutrition and mild malnutrition by offering nutritional advice and support especially in people who are not governmental Employer.


Assuntos
Humanos , Lactente , Pré-Escolar , Fatores Socioeconômicos , Demografia/estatística & dados numéricos , Epidemiologia Descritiva , Incidência , Estudos Transversais/estatística & dados numéricos , Morbidade , Desnutrição/etiologia , Desnutrição/mortalidade
5.
Prensa méd. argent ; 107(3): 157-161, 20210000. tab
Artigo em Inglês | LILACS, BINACIS | ID: biblio-1359922

RESUMO

Antecedentes: el fármaco antimetabolito aumenta el nivel de hemoglobina fetal y reduce la frecuencia de crisis en pacientes con anemia de células falciformes. Objetivo: Evaluar el efecto de los antimetabolitos (hidroxiurea) en casos con crisis falciforme frecuente de anemia de células falciformes y talasemia no dependiente de transfusiones en el hospital de formación de Karbala desde abril de 2016 hasta diciembre de 2020. Pacientes y métodos: de 81 pacientes realizados en este estudio de casos y controles, cuarenta recibieron hidroxiurea y los otros cuarenta y un pacientes no. Se realizaron monitoreos cada dos semanas en los primeros tres meses mediante el envío para análisis (Hb, WBC, recuento de plaquetas y urea en sangre y creatinina sérica) LA PRENSA MÉDICA ARGENTINA Antimetabolite drug in patients with sickle cell diseases in hematological center of kerbalaa training hospital 161 V.107/Nº 3 además de la evaluación de los efectos secundarios de los medicamentos. Los cuarenta y un pacientes restantes que rechazaron la terapia con medicamentos los consideramos un grupo de control. Resultado: el grupo de casos que recibió hidroxilurea tuvo crisis principalmente después de 12 semanas desde la última crisis, mientras que el grupo de control tuvo crisis principalmente cada 3 a 7 semanas con un valor P=0,0001. No hubo efectos secundarios en el 77,5% de los casos que recibieron hidroxiurea. El 22,5% restante de los casos tuvo efectos secundarios menores o inespecíficos. Conclusión: En pacientes con drepanocitosis que sufrieron episodios recurrentes de crisis, la terapia con Hidroxiurea disminuye significativamente la frecuencia de la crisis dolorosa, con un bajo nivel de efectos secundarios en comparación con el grupo control.


Background: the antimetabolite drug increase fetal hemoglobin level and reduce the frequency of crisis in sickle cell disease patients. Aim: To evaluate the effect of antimetabolites (hydroxyurea) in cases with frequent sickling crisis of sickle cell disease and non-transfusion dependent thalassemia in Karbala training hospital from APRIL 2016 till December 2020. Patient and methods: from eighty-one patients conducted in this case control study, forty were received hydroxyurea and the other forty-one patients were not. Monitoring every two weeks in the first three months by sending for investigations (Hb, WBC, platelet count and blood urea and serum creatinine) in addition to assessment of drug side effects. The remaining forty-one patients who refused drug therapy we consider them as a control group. Result: the case group who received hydroxylurea had crisis mostly after 12 weeks from last crisis, whereas the control group had crisis mostly each 3 to 7 weeks in P value 0.0001. There was no side effect in 77.5% of cases received hydroxyurea.The remaining 22.5% of cases had less or nonspecific side effects. Conclusion: In patient with sickle cell diseases who suffered from recurrent episodes of crisis, Hydroxyurea therapy significantly decreases the frequency of the painful crisis, with low level of side effects in comparison with control group


Assuntos
Humanos , Hemoglobina Fetal , Estudos de Casos e Controles , Técnicas de Laboratório Clínico , Hidroxiureia/uso terapêutico , Anemia Falciforme/patologia , Antimetabólitos
6.
Pediatric Gastroenterology, Hepatology & Nutrition ; : 457-463, 2020.
Artigo | WPRIM | ID: wpr-834154

RESUMO

Purpose@#To analyze risk factors and various nutrients associated with stunting among children aged 6–60 months. @*Methods@#This is a case-control and cross-sectional study between 40 stunting cases and 40 controls. Data on possible risk factors associated with stunting were obtained through direct interviews and using a questionnaire. Examination of vitamin D, zinc, albumin, and ferritin levels was performed on both groups. Data were analyzed using IBM SPSS Statistics for Windows, Version 23.0 (IBM Co., Armonk, NY, USA) to determine risk factors for stunting and to assess the relationship between nutritional levels and stunting. @*Results@#The incidence of stunting was highest in children aged 12–36 months. Children with low weight and very low weight for age comprised of 55% and 22.5%, respectively, of the study participants. The highest mother's educational level was junior high school (40%).History of low birth weight (LBW) was more commonly observed in the stunting group than that in the control group (25.0% and 7.5%, respectively; p=0.034, odds ratio, 0.310 [95% confidence interval, 0.122–0.789]). Approximately 7.5% of cases had premature birth.Exclusive breast feeding was found to be not correlated with stunting. The mean zinc level in the stunting group was 34.17 ng/mL, which was different from that in the control group (50.83 ng/mL) (p=0.023). Blood ferritin, vitamin D, albumin, and calcium levels were not strongly correlated with stunting. @*Conclusion@#LBW is the main risk factor contributing to stunting and is strongly associated with low zinc level.

7.
Artigo | IMSEAR | ID: sea-187821

RESUMO

The aim of this study was to evaluate anti-inflammatory and hepatoprotective effects of methanolic extracts from fruits and leaves of Capparis spinosa. For hepatoprotective activity, liver injury was induced in male Wistar mice by administration of CCl4 (1 ml / kg of CCl4 30% in olive oil,), while C. spinosa leaf extract (CSLE) and fruit extract (CSFE) were administered orally to the experimental animals. Haematoxylin and Eosin based histology was performed to evaluate the histological changes in the liver. In vitro anti-inflammatory activity was evaluated using albumin denaturation assay and membrane stabilization inhibitory activity at different concentrations. The methanol extracts showing effective in vitro anti-inflammatory activity were also tested for in vivo anti-inflammatory activity by carrageenan-induced paw edema in mice model. At a dose of 400 mg / kg, both extracts showed significant reduction of edema in the early and late phases of acute inflammation with a maximal effect at 6 hours after induction of the inflammation. Also and at the concentration of 400 µg / ml, the CSFE and CSLE exhibited significant protection of erythrocyte membrane against the lysis induced by heat (35.4% and 28.4%, respectively) and induced hypotonicity (58.9% and 72.8%, respectively). They also showed a significant protective effect, with a maximum percent of inhibition of the denaturation of albumin of 61.78% and 61.12%, respectively. Moreover, both extracts showed significant hepatoprotective activity that was evident by enzymatic examination and histopathological study. These findings proved that CSFE and CSLE have an anti-inflammatory and hepatoprotective activities, although slightly better for the leaf extract.

8.
Acta Medica Philippina ; : 490-494, 2018.
Artigo em Inglês | WPRIM | ID: wpr-979062

RESUMO

Background@#Autism is a neurological and developmental disorder. Children with autism have problems related to physical, psychological, and mental barriers that can hinder their ability to achieve optimal dental health status. Maintaining the dental health of children with autism is influenced by parents' teaching skills and habits. From previous study, there were about 17.4% children with autism in Saudi Arabia suffering from bleeding of the gingiva. Periodontal disease is often found in children with autism.@*Objective@#This study analyzes the relationship between mother’s behavior with periodontal status and periodontal treatment needs of children with autism.@*Methods@#Analytical observational study with cross-sectional approach at AGCA Centre Surabaya with a total sample of 34 pairs of children with autism and their mothers. This study used the HU-DBI questionnaire which consisted of knowledge, attitude, and mother’s action and oral examination of children with autism with the CPITN index.@*Results@#Of the children with autism, 55.8% had healthy periodontal status. The knowledge, attitudes, and actions of mothers were high. Statistical results with Spearmen correlation test obtained a value of p>0.05 on aspects of knowledge, attitudes, and actions towards the CPITN index and periodontal treatment needs.@*Conclusion@#There was no significant correlation between the mother’s behavior and the periodontal status and periodontal treatment needs of children with autism in managing their oral health.


Assuntos
Transtorno Autístico
9.
Tunisie Medicale [La]. 2016; 94 (2): 112-117
em Inglês | IMEMR | ID: emr-181794

RESUMO

Aim: The aim of this study was to study the quantitative and qualitative aspects of daily spontaneous nutrition as well as anthropometric characteristics and body composition of young Tunisian weightlifters


Methods: Thirty one boys aged between 14 and 18 years, practicing for two hours a day, six days a week in the four weightlifting clubs in Tunis were invited to attend an evaluation session for a food survey [3 days recall, with consumption frequency over a period of 7 days] and the assessment of anthropometric measurements [Weight, height and skinfolds]


Results: Energy intake was acceptable. However, an imbalance nutrient intake was revealed. Concerning macronutrient, fat and protein were above the recommended allowances [p<0.01]. Further, the percentage of saturated fatty acids was significantly above the recommended values while the percentages of polyunsaturated fatty acids and monounsaturated fatty acids were restricted. Regarding the micronutrient, the intake of calcium, magnesium and potassium were restrictive [p<0.01]. As for the fluid intake, a limited contribution was observed [p<0.01]. Several correlations between body composition and dietary intake have been found


Conclusion: Nutritional education may lead these young weightlifters to adopt appropriate nutritional habits to optimize dietary intake. This fact could be compromising of a more suitable body composition and could have a positive bearing on athletic performance

10.
Tunisie Medicale [La]. 2016; 94 (4): 320-325
em Francês | IMEMR | ID: emr-185059

RESUMO

Background: Primary immunodeficiencies [PID] are a group of heterogeneous and relatively rare diseases


Aim: To determine the clinical characteristics, outcome and genetic data of primary immunodeficiencies in pediatrics patients


Methods: A retrospective, descriptive and multicentered study, enrolling 33 children presenting a PID in Tunis, during a period of 22 years [1991-2012]


Results: A masculine predominance has been noticed with a sex ratio at 2,3. Consanguinity was found in 71% of family cases. History of early infant deaths was found in 42% of cases. The media age of diagnosis was of 1 year 2 months. The median diagnosis delay was of 11 months and 1/2. Most frenquently observed PID were combined immunodeficiency [36%], mostly severe combined immunodeficiency [SCID] [21%], followed by congenial defects of phagocyte function [33%], mostly chronic granulomatosis disease [21%]. Antibody defects were found in 21% of cases. Most frequently observed out comes were lung infections [66%] recurrent oral thrush [57%] and diarrhea [42%]. Most important complications were severe infections and bronchiectasis. 30% of patients were dead by the end of the study. A molecular characterization was performed in 33% of patients, and an antenatal diagnosis was performed in 10% of cases


Conclusion: The PID are a group of disease with variable expressions and etiologies. Their frequency remains understimated in Tunisia, and their management, difficult and insufficient. We suggest the establishment of systematic genetic consulting visit, the creation of a national registry and developing bone marrow transplantation in children in Tunisia

11.
JIIMC-Journal of Islamic International Medical College [The]. 2015; 10 (4): 242-245
em Inglês | IMEMR | ID: emr-174060

RESUMO

This study aimed to assess the correlation between oral health and general health in children having intellectual disabilities. Cross-sectional, questionnaire based study. This study was conducted at Step to Learn School, Islamabad and Rawalpindi, fromMay to June 2014. A sample of 88 children were selected from two branches of 'Step to Learn, a special school for children with intellectual disabilities. Body Mass Index [BMI] was used to assess general health, while oral health was measure by the Decayed, Missing, Filled Teeth [DMFT] index. Dental surgeons and dental students conducted the examination. Pearson's correlation coefficient was used to compare the correlation between BMI and DMFT. The data was analyzed using the software SPSS [v 17.0]. Out of 88 children, data of 85 [96.59%] was recorded. No significant correlation was found between oral health and general health [r = -0.06]. The general health of children with intellectual disabilities does not impact their oral health. Subsequent oral and general health educational initiatives should be conducted separately

13.
Tunisie Medicale [La]. 2015; 93 (8/9): 511-515
em Inglês | IMEMR | ID: emr-177394

RESUMO

Background: Ataxia-telangiectasia [A-T] is a multisystem disorder characterized by progressive neurologic impairment, variable immunodeficiency, impaired organ maturation, X-ray hypersensitivity, oculocutaneous telangiectasia, and a predisposition to malignancy


Aim: We performed this study in order to describe clinical, immunological and molecular features of patients with AT followed in the south of Tunisia


Methods:we performed a retrospective study [1996-2012] in the south of Tunisia about all cases of A-T in order to describe their clinical, immunological and molecular features


Results:11 cases of AT were found. The mean age at onset of symptoms was 20 months with extremes varying from 3 months to 4 years. The median time to diagnosis was 3.6 years [range: 0-12 years].The main clinical feature of cerebellar syndrome, ataxia, was present at diagnosis in 8 patients and occurred at mean ages of 2.8 years. Ocular telangiectasia occurred at a mean age of 3.9 years [extremes: 3 months and 7 years]. Recurrent sino-pulmonary infections that affected 7 children occurred at the mean age of 4.3 years. The most common humoral immune abnormality was serum IgA deficiency. Lymphopenia was found in 7 cases and lack of CD4 T in 6 cases. Cytogenetic analyses showed chromosomal instability in all children and a translocation [7-14] in two patients. A molecular diagnosis established in 6 patients from 4 families showed 5 different mutations of ATM gene. After an average decline of 5 years and 6 months, 7 patients died of severe pulmonary infection. Among them, 3 were ATM mutated


Conclusion: Morbidity and mortality among patients with A- T are associated with ATM genotype

14.
Tunisie Medicale [La]. 2015; 93 (8/9): 516-522
em Francês | IMEMR | ID: emr-177395

RESUMO

Background: Violence against women in the marriage is now recognized as a violation of human rights and as a major problem of public health


Aim: The objectives of this study were to estimate the prevalence, specify the typology and to determine associated factors with violence against women in the marriage


Methods: It was a cross-sectional study carried on 197 married women recruited in family planning center of Monastir, by means of a questionnaire containing some sociodemographic characteristics of the consultant and her spouse and the Woman Abuse Screening Tool to estimate the violence in the marriage


Results: The lifetime prevalence of violence against women in the marriage was 56.9%. The most common form of violence was psychological [56.9%], followed by economic violence [41.1%], physical violence [32%] and sexual violence [10.6%]. The combination of at least two forms of violence was reported by 84% of victims. The precarious professional status of consultant and her spouse, spouse's alcoholism, the number of children upper for three were the main factors associated with violence in marriage


Conclusion: These results justify the implement of screening and support programs for women victims of violence in marriage

15.
Tunisie Medicale [La]. 2015; 93 (8/9): 556-564
em Inglês | IMEMR | ID: emr-177403

RESUMO

Background: [PSMA+,PSA+] and [PSMA+,PSA-] are the two most individual clones that we have previously identified during prostate cancer [PC] progression. However, molecular signatures associated with these distinct PSMA-PSA prostate clones and their specific correlation with disease outcome is yet to be defined


Aim: Since Akt is a major pathway involved in the critical activating events that leads to malignant form of the disease, we studied the involvement of full Akt activation [T308+,S473+] connected with serum PSA levels, tissue PSMA expression and angiogenic activity on the emergence of [PSMA+,PSA+] and [PSMA+,PSA-] PC clones


Methods: The study was carried out in 6 normal prostate, 25 benign prostate hyperplasia [BPH] and 23 [PC]. Immunohistochemical analysis was performed to study the expression of PSMA, PSA, pAkt[T308], pAkt[S473] and CD34 in prostate tissues. The evaluation of angiogenesis was made by CD34 immune marker. Serum levels of PSA were assayed by Immulite autoanalyser


Results:The most relevant result showed that, among PC patients with pAkt [T308+,S473+] profile, patients that exhibit the [PSMA+,PSA+] clone have higher serum PSA levels, tissue PSMA expression and angiogenic activity than those with [PSMA+,PSA-] clone. Although have the same [PSMA+,PSA+] prostate clone, BPH patients have distinct molecular-biological features compared to PC patients among pAkt [T308+,S473+] profile. In fact, among patients with maximal Akt activation, the [PSMA+,PSA+] PC clone is characterized by higher serum PSA levels, tissue PSMA production and intensive angiogenic activity than [PSMA+,PSA+] BPH clone


Conclusion: These findings emphasize the potential role of the full Akt activation [T308+,S473+] in expansion of several PSMA-PSA prostate clones capable of driving both human PC initiation as well as progression to a metastatic phenotype. Pinpoint patients according to PSMA-PSA clones could recapitulate the histological and molecular features of human PC and may offer a novel approach for controlling metastasis

16.
Tunisie Medicale [La]. 2015; 93 (3): 170-174
em Francês | IMEMR | ID: emr-171790

RESUMO

Marshall syndrome is a rare autosomal dominant skeletal dysplasia. It associates a particular facial dysmorphism with midface hypoplasia, ocular abnormalities and sensorineural hearing loss. It is caused by heterozygous mutations in COL11A1 gene coding the 1 chain of collagen XI. Stickler syndrome is the principal differential diagnosis of Marshall syndrome. Clinical and radiological study of Marshall syndrome in a Tunisian family with a linkage study of the COL11A1 gene to this disease. We report the clinical and the radiological findings of a Tunisian family including 8 members affected by Marshall syndrome. The linkage of the COL11A1 gene to this disease was tested using the polymorphic microsatellite markers of DNA. A variability of the clinical expression of Marshall syndrome was reported. Specific Marshall phenotype and an overlapping phenotype between the Marshall and Stickler syndromes were observed among the affected members of this family. The ocular manifestations were also heterogeneous. Marshall syndrome's specific radiological signs were found. The linkage study supports the linkage of the abnormal phenotype to the COL11A1 gene. There is a variability of the clinical expression among the affected members of the study's family. We will continue searching the causative mutation to establish a clear genotype- phenotype correlation


Assuntos
Adulto , Idoso , Humanos , Lactente , Recém-Nascido , Perda Auditiva Neurossensorial , Osteocondrodisplasias , Anormalidades Craniofaciais , Colágeno Tipo XI/deficiência , Artrite , Doenças do Tecido Conjuntivo , Descolamento Retiniano , Radiologia , Genética
17.
18.
Tunisie Medicale [La]. 2014; 92 (12): 762-762
em Inglês | IMEMR | ID: emr-167911
19.
Iranian Journal of Public Health. 2014; 43 (7): 947-960
em Inglês | IMEMR | ID: emr-161364

RESUMO

Diarrheal diseases can be caused by viral, bacterial and parasitic infections. This paper provides a preliminary image of diarrhea with regards to etiology and epidemiologic factors in Tunisian children less than five years of age. Overall, 124 diarrhoeal stools were collected from patients suffering from acute diarrhea and 54 stool samples from healthy children. All stools were examined for the presence of enteric pathogens. In diarrheagenic children, 107 pathogenic bacteria were isolated [12 Salmonella spp. [9.7%] and 95 diarrheagenic Escherichia coli strains [76.6%]: 29 enteroaggregative E.coli [EAEC] [23.4%], 15 enteroinvasive E.coli [EIEC] [12.1%], 17 enteropathogenic E.coli [EPEC] [13.7%], 26 enterotoxigenic E.coli [ETEC] [21%] and 2 enterohemoragic E.coli [EHEC] [1.6%]. However, in the control group, 23 pathogenic E.coli strains were isolated [42.6%] 8 EAEC [14.8%], 12 EIEC [22.2%] and 3 EPEC [5.5%]. Among diarrheagenic E.coli [DEC], only ETEC strains were significantly recovered from diarrheagenic children than from healthy controls [P < 0.0003]. Group A rotavirus was identified in 33.9% [n=42] of diarrheagenic children and in 11.1% among the control group [n=6]. Concerning norovirus, 8.9% [n=11] of the samples collected from diarrheagenic children and 9.2% [n=5] from the control group were positive. The prevalence of rotaviruses and Salmonella spp were also significantly higher in patients with diarrhea than in controls [P = 0.002 and P < 0.019, respectively]. Finally, enteropathogenic parasites [Entamoeba coli and cryptosporidium Oocystes] were isolated from 4.8% and 9.2% of diarrheagenic and control children, respectively. These results provide baseline data about the relative importance of different enteropathogens in Tunisian children

20.
Heart Views. 2014; 15 (1): 6-12
em Inglês | IMEMR | ID: emr-147231

RESUMO

There is paucity of data on heart failure [HF] in the Gulf Middle East. The present paper describes the rationale, design, methodology and hospital characteristics of the first Gulf acute heart failure registry [Gulf CARE]. Gulf CARE is a prospective, multicenter, multinational registry of patients >18 year of age admitted with diagnosis of acute HF [AHF]. The data collected included demographics, clinical characteristics, etiology, precipitating factors, management and outcomes of patients admitted with AHF. In addition, data about hospital readmission rates, procedures and mortality at 3 months and 1-year follow-up were recorded. Hospital characteristics and care provider details were collected. Data were entered in a dedicated website using an electronic case record form. A total of 5005 consecutive patients were enrolled from February 14, 2012 to November 13, 2012. Forty-seven hospitals in 7 Gulf States [Oman, Saudi Arabia, Yemen, Kuwait, United Gulf Emirates, Qatar and Bahrain] participated in the project. The majority of hospitals were community hospitals [46%; 22/47] followed by non-University teaching [32%; 15/47 and University hospitals [17%]. Most of the hospitals had intensive or coronary care unit facilities [93%; 44/47] with 59% [28/47] having catheterization laboratory facilities. However, only 29% [14/47] had a dedicated HF clinic facility. Most patients [71%] were cared for by a cardiologist. Gulf CARE is the first prospective registry of AHF in the Middle East, intending to provide a unique insight into the demographics, etiology, management and outcomes of AHF in the Middle East. HF management in the Middle East is predominantly provided by cardiologists. The data obtained from this registry will help the local clinicians to identify the deficiencies in HF management as well as provide a platform to implement evidence based preventive and treatment strategies to reduce the burden of HF in this region

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