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Option B+ approach for prevention of mother-to-child transmission (PMTCT) has demonstrated the potential to eliminate pediatric HIV infections. Its success depends on early infant diagnosis (EID) of HIV among the exposed infants within the first 6 weeks, and a subsequent confirmatory HIV test within 18 months. However, most mothers enrolling in option B+ in Tanzania do not come for such confirmatory tests. We examined factors associated with the turning-up of mother-baby pairs on the PMTCT program for a confirmatory HIV testing 18 months post-delivery in Tanzania. This study utilized longitudinal data collected between 2015 and 2017, from 751 mother-baby pairs enrolled in the PMTCT-option B+ approach in 79 health facilities from the 12 regions of Tanzania-mainland. Only 44.2% of 751 mother-baby records observed received the HIV confirmatory test by the 18th month. Mothers aged 25 years or above (adults' mothers) were 1.44 more likely to turn up for confirmatory HIV testing than young mothers; mothers with partners tested for HIV were 1.74 more likely to have confirmatory HIV testing compared with partners not tested for HIV. Newly diagnosed HIV-positive mothers were 28% less likely to bring their babies for a confirmatory HIV-testing compared to known HIV-positive mothers. Mothers with treatment supporters were 1.58 more likely to receive confirmatory HIV-testing compared to mothers without one. Mother-baby pairs who collected DBS-PCR-1 were 3.61 more likely to have confirmatory HIV-testing than those who didn't collect DBS-PCR-1. In conclusion, the confirmatory HIV testing within 18 months among mother-baby pairs enrolled in the Option B+ approach is still low in Tanzania. This is associated with low maternal age, having a male partner not tested for HIV, lack of experience with HIV services, lack of treatment supporters, and failure to take the DBS-PCR-1 HIV test within the first two months post-delivery.
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AIM: This study was conducted to evaluate the local complications in children who had a peripheral intravenous catheter. BACKGROUND: Currently, the insertion of peripheral intravenous catheters occurs in most children that are hospitalized. However, the development of some complications associated with the insertion of these catheters are unavoidable. A significant aspect of nursing care is to ensure the safety of the placement and management of peripheral intravenous catheters in children. DESIGN: The prospective cohort study design was used in the study, and the data of the study were collected between February 3, 2015 and May 17, 2015 by using the "Patient and Disease-Related Data Collection Form" and the "Peripheral Intravenous Catheterization Observation Form". METHODS: The population of the study consisted of 100 children (201 catheters) who received inpatient treatment from the internal medicine and surgery services of a children's hospital. RESULTS: A total of 201 catheter placements were observed, and 100 (49.7%) of them developed complications. It was determined that infiltration ranked first among the complications at 72.0% (n=72), followed by mechanical complications at 22.0% (n=22) and phlebitis at 6.0% (n=6). While the complications developed mostly in children under the age of 3 years (67.7%), complications developed least commonly among children aged ≥10 (33.3%). All phlebitis cases were confirmed in children whose catheter site could not be secured. CONCLUSIONS: The rate of complications was predicted for the catheterization site, and the security of the catheter determined the rate of complications. Children's gender, body mass index, hemoglobin values, and reason for hospitalization were not significant predictors of complications. RELEVANCE TO CLINICAL PRACTICE: In light of the study's results, infiltration is more commonly observed in lower extremities and other areas, it is suggested that these areas should be avoided for peripheral intravenous catheterization. More effective interventions are recommended for determination of the catheter site. This article is protected by copyright. All rights reserved.
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IMPORTANCE: Optimal glottal closure as well as symmetrical vocal fold masses and tensions are essential prerequisites for normal voice production. Successful phonosurgery depends on restoring these prerequisites to achieve long-term improvement. OBJECTIVE: To evaluate the efficacy of the laryngeal framework surgical treatments (arytenoid adduction with and without thyroplasty type I [AA ± Th-I]) compared with arytenoid adduction combined with nerve-muscle pedicle flap transfer (AA + NMP) in unilateral vocal fold paralysis. Patterns of voice outcome were compared over a 2-year period. DESIGN, SETTING, AND PARTICIPANTS: Retrospective review of clinical records of 22 patients who presented to an institutional practice with severe paralytic dysphonia between March 1999 and December 2008, who received 2 different treatments. Postoperative follow-up was conducted over 2 years. INTERVENTIONS: Eleven patients were treated with AA ± Th-I and 11 patients were treated with AA + NMP. MAIN OUTCOMES AND MEASURES: Vocal function was evaluated preoperatively and at 3, 12, and 24 months postoperatively. Vocal parameters evaluated were jitter, shimmer, harmonics to noise ratio (HNR), maximum phonation time (MPT), and overall grade and breathiness grade of the Grade-Roughness-Breathiness-Asthenia-Strain (GRBAS) voice scale. The outcomes of voice measurements were compared within each group across time and among the 2 groups at each time point. RESULTS: All voice parameters showed initial postoperative improvement in both groups after 3 months. Moreover, the AA + NMP group showed significant steady improvement over the 2-year follow-up, which did not occur in the AA ± Th-I group. In the AA + NMP group, MPT increased from a mean (SD) of 5.4 (2.1) s at preoperative assessment to 21.5 (7.0) s at 24 months; jitter decreased from 8.6% (5.3%) to 1.2% (0.7%); shimmer decreased from 13.1% (6.0%) to 4.0% (1.6%); HNR increased from 3.8 (3.3) to 9.0 (0.8); overall grade of GRBAS decreased from 2.4 (0.9) to 0.2 (0.4); and breathiness grade of GRBAS decreased from 2.0 (1.0) to 0.1 (0.3). CONCLUSIONS AND RELEVANCE: Unlike the conventional laryngeal framework surgical treatments, AA + NMP provided long-term voice improvement with nearly normal voice quality. Thus, it can be considered an effective surgical treatment for paralytic dysphonia due to unilateral vocal fold paralysis associated with large glottal gap.
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Disfonia/cirurgia , Músculos Laríngeos/cirurgia , Laringoplastia , Músculo Esquelético/transplante , Nervos Espinhais/transplante , Retalhos Cirúrgicos/inervação , Paralisia das Pregas Vocais/cirurgia , Disfonia/etiologia , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Fonação , Estudos Retrospectivos , Paralisia das Pregas Vocais/complicações , Qualidade da VozRESUMO
OBJECTIVE: To investigate the differences in exposure to medications in a cohort of multi-ethnic pregnant women. METHODS: Six hundred and forty-one pregnant women of Western, Arab/Turkish and "other origins" participated in this cross-sectional study using a questionnaire in a university hospital in Brussels, Belgium. Assessment of the drug safety was done using the food and drug administration (FDA) risk classification system. Data analysis was performed using SPSS (Chicago, IL). RESULTS: In overall cohort, 83.8% used at least one preparation (including multivitamins) during pregnancy and 37.0% of women used at least one drug (excluding multivitamins). Significantly more Western women (43.7%) used one or more medications compared to Arab/Turkish women (28.7%; p = 0.000). This difference in exposure was most pronounced for over-the-counter (OTC) drugs for occasional and pregnancy-related complaints, and was observed for potentially unsafe drugs or drugs with unknown safety. None of the women reported use of FDA X category drugs. CONCLUSIONS: The use of drugs known to be harmful was not observed, but a higher prevalence of exposure to potentially harmful drugs (FDA C/D) was found among Western women who also consumed more OTC drugs. This highlights the need for cautious prescribing for women in the fertile age in general and for continuous monitoring of medication use during pregnancy.
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Uso de Medicamentos/estatística & dados numéricos , Etnicidade/estatística & dados numéricos , Complicações na Gravidez/tratamento farmacológico , Adulto , Bélgica/epidemiologia , Doença Crônica , Estudos de Coortes , Estudos Transversais , Feminino , Humanos , Gravidez , Prevalência , Inquéritos e QuestionáriosRESUMO
BACKGROUND: Skin flora varies from one site of the body to another. Individual's health, age and gender determine the type and the density of skin flora. METHODS: A 1 cm² of the skin on the sternum was rubbed with sterile cotton swab socked in 0.9% normal saline and plated on blood agar. This was cultured at 35 °C. The bacteria were identified by culturing on MacConkey agar, coagulase test, catalase test and gram staining. Swabs were obtained from 66 individuals affected by albinism and 31 individuals with normal skin pigmentation. Those with normal skin were either relatives or staying with the individuals affected by albinism who were recruited for the study. RESULTS: The mean age of the 97 recruited individuals was 30.6 (SD ± 14.9) years. The mean of the colony forming units was 1580.5 per cm2. Those affected by albinism had a significantly higher mean colony forming units (1680 CFU per cm²) as compared with 453.5 CFU per cm² in those with normally pigmented skin (p = 0.023). The skin type and the severity of sun- damaged skin was significantly associated with a higher number of colony forming units (p = 0.038). CONCLUSION: Individuals affected by albinism have a higher number of colony forming units which is associated with sun- damaged skin.
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Albinismo/microbiologia , Bactérias/isolamento & purificação , Pele/microbiologia , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Contagem de Colônia Microbiana , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fatores de Risco , Tanzânia , Raios Ultravioleta/efeitos adversos , Adulto JovemRESUMO
BACKGROUND: Acral peeling skin syndrome is a rare autosomal recessive genodermatosis due to a missense mutation in transglutaminase 5. The skin peeling occurs at the separation of the stratum corneum from the stratum granulosum. CASE PRESENTATION: We present a case of two siblings who developed continuous peeling of the palms and soles from the first year of life. This peeling was more severe on the soles than palms and on younger sibling than elder sibling. Peeling is worsened by occlusion and sweating. CONCLUSIONS: Sporadic cases of Acral Peeling Skin Syndrome occur in African population. There is variability in time of presentation and clinical severity even within families.
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Dermatite Esfoliativa/patologia , Dermatoses do Pé/patologia , Dermatoses da Mão/patologia , Transtornos da Pigmentação/patologia , Adolescente , África Oriental , Criança , Feminino , Humanos , Masculino , Irmãos , Dermatopatias/congênitoRESUMO
OBJECTIVES: To investigate the anemia prevalence during pregnancy and the use of and response to iron supplementation in a multi-ethnic population as well as the possible association between anemia and birth outcomes (pregnancy duration, birth weight). METHODS: Cross-sectional study conducted in a university hospital (Brussels, Belgium) in 341 women. Hemoglobin, ferritin and iron prescription data were extracted from the patients' electronic dossiers; a questionnaire was used to assess iron intake during pregnancy. RESULTS: Anemia prevalence was higher during the 3rd trimester (24.3%) than in the 1st trimester (6.2%). Arab/Turkish women had a higher prevalence of anemia (9.1%) in the 1st trimester compared to Western women (2.4%; p = 0.044). The frequency of iron prescription was significantly higher among Arab/Turkish (43.7%) compared to Western women (27.9%; p = 0.006). A significantly lower mean birth weight was found among women presenting with anemia in the 1st trimester (3166 g) compared to non anemic women (3442 g; p = 0.036) but no significant difference was detected in mean pregnancy duration between both groups (p = 0.804). CONCLUSIONS: Anemia was more prevalent among Arab/Turkish women in spite of receiving more iron prescriptions than Western women. Efficient iron therapy and intensive follow-up are warranted to decrease the anemia prevalence during pregnancy, especially among non-Western women.
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Anemia/tratamento farmacológico , Etnicidade , Ferro/administração & dosagem , Ferro/sangue , Estado Nutricional , Complicações na Gravidez/tratamento farmacológico , Adolescente , Adulto , Anemia/sangue , Anemia/epidemiologia , Anemia/etnologia , Peso ao Nascer/fisiologia , Estudos Transversais , Suplementos Nutricionais , Feminino , Humanos , Estado Nutricional/fisiologia , Gravidez/sangue , Gravidez/etnologia , Complicações na Gravidez/sangue , Complicações na Gravidez/epidemiologia , Complicações na Gravidez/etnologia , Prevalência , Adulto JovemRESUMO
OBJECTIVES/HYPOTHESIS: Our objective was to evaluate the efficacy of modified nerve-muscle pedicle (NMP) flap transfer combined with arytenoid adduction (AA)â (AA + modified NMP) for treatment of unilateral vocal fold paralysis. The patterns of voice outcome assessed using phonatory function tests and auditory perceptual judgments were followed-up for 2 years. STUDY DESIGN: Prospective study. METHODS: Thirteen subjects among those presented with paralytic dysphonia between March 2002 and December 2008 were treated with AA + modified NMP. The voice outcomes (six objective and two subjective voice parameters) were evaluated preoperatively and in four different time points postoperatively over 2-years duration. RESULTS: All voice parameters showed initial postoperative improvement. Moreover, five parameters showed significant continuous improvement over the 2-year follow-up (maximum phonation time, pitch range, shimmer, and grade overall and breathiness of the grade-roughness-breathiness-asthenia-strain scale (GRBAS), whereas two parameters revealed continuous improvement over the first 12 to 14 months after surgery (mean flow rate and harmonics-to-noise ratio). CONCLUSIONS: AA + modified NMP improves both short- and long-term voice outcomes in unilateral vocal fold paralysis patients. Therefore, AA + modified NMP is an effective surgical combination for the treatment of severe paralytic dysphonia.
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Cartilagem Aritenoide , Disfonia/etiologia , Disfonia/cirurgia , Retalhos Cirúrgicos , Paralisia das Pregas Vocais/complicações , Paralisia das Pregas Vocais/cirurgia , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos ProspectivosRESUMO
The larvicidal activity of the juvenile hormone mimic pyriproxyfen was evaluated against the 4th larval instar of Culex pipiens under 5 constant temperatures in the laboratory. Toxicity of this insect compound increased with temperature. The 50% lethal concentrations ranged between 0.00111 ppm at 20 degrees C and 0.00013 ppm at 32 degrees C. A similar trend was observed for the 90% lethal concentrations, which varied from 0.00379 ppm to 0.00024 ppm at the 2 temperatures, respectively. Some effects of the compound were observed on the ultrastructure of the 4th-stage larval integument, where electron micrographs revealed the destruction of procuticle lamellae, formation of cuticular vacuoles, deformed mitochondria, and destruction of nuclear envelopes and the epidermal layer, in addition to an increase in electron-dense lysosomelike bodies.
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Culex , Inseticidas , Hormônios Juvenis , Piridinas , Animais , Bioensaio , Culex/ultraestrutura , Larva/ultraestrutura , Microscopia Eletrônica , TemperaturaRESUMO
Starting from mefenamic acid a series of 1-(2,3-dimethyl-phenyl)-2,4(1H,3H)-quinazolinedione derivatives were prepared. Structures of the new compounds were confirmed by microanalysis, IR, and 1H-NMR. Seven representative compounds were subjected to preliminary pharmacological screening which revealed that some of them exhibited analgesic and anti-inflammatory activity greater than mefenamic acid.
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Analgésicos não Narcóticos/síntese química , Anti-Inflamatórios não Esteroides/síntese química , Quinazolinas/síntese química , Analgésicos não Narcóticos/farmacologia , Animais , Anti-Inflamatórios não Esteroides/farmacologia , Edema/induzido quimicamente , Edema/prevenção & controle , Feminino , Masculino , Camundongos , Medição da Dor/efeitos dos fármacos , Quinazolinas/farmacologia , RatosRESUMO
A temperature probe based on the fluorescence properties of the two excited states of 4-(N,N-dimethylamino)benzonitrile (DMABN) in equilibrium with beta-cyclodextrin (CD) in aqueous solution is presented. The fluorescence intensity of the Franck-Condon excited state (FB) as a function of temperature shows a straight line with a correlation better than 0.99 in the 283-308 K temperature interval. On the other hand, the fluorescence intensity of the twisted internal charge-transfer state (FA) remains constant in the same temperature interval because the binding of DMABN in the A* state to CD is isoenthalpic and entropy driven. It is found that the FA/FB ratio is independent of the excitation intensity at a specified temperature, shows a linear relationship with temperature, and allows temperature measurements with a resolution of +/- 2.5 K.
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Ciclodextrinas/química , Corantes Fluorescentes/química , Nitrilas/química , beta-Ciclodextrinas , Espectrofotometria Ultravioleta , TemperaturaRESUMO
We have demonstrated the capacity of non-phospholipid liposomes composed primarily of dioxyethylene acyl ethers and cholesterol to fuse with membranes composed primarily of phospholipid. Phase-contrast microscopy, freeze-fracture electron microscopy and a macromolecular probe indicate that these non-phospholipid liposomes can fuse with the plasma membranes of erythrocytes and fibroblasts. Furthermore, fluorescence probe experiments have demonstrated fusion between phosphatidylcholine liposomes and non-phospholipid liposomes. Mixing of internal contents was shown by a terbium/dipicolinate assay. Mixing of membrane lipid components was demonstrated by measuring (i) fluorescence resonance energy transfer between N-(7-nitrobenz-2-oxa-1,3-diazol-4-yl)phosphatidylethanolamine and N-(lissamine rhodamine B sulfonyl)phosphatidylethanolamine, after phosphatidylcholine liposomes were mixed with non-phospholipid liposomes, and (ii) reduced concentration quenching of rhodaminephosphatidylethanolamine and octadecylrhodamine incorporated into phosphatidylcholine liposomes after mixing with the non-phospholipid liposomes. The degree of apparent fusion reported by the different probe techniques ranged from 25% to 64%.
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Membrana Celular/fisiologia , Colesterol , Membrana Eritrocítica/fisiologia , Etil-Éteres , Lipossomos , Fusão de Membrana , Células 3T3 , Animais , Membrana Celular/ultraestrutura , Detergentes , Portadores de Fármacos , Membrana Eritrocítica/ultraestrutura , Fibroblastos/fisiologia , Corantes Fluorescentes , Técnica de Fratura por Congelamento , Peroxidase do Rábano Silvestre/administração & dosagem , Humanos , Cinética , Camundongos , Microscopia Eletrônica , Microscopia de Contraste de Fase , Fosfolipídeos , Relação Estrutura-AtividadeRESUMO
Metformin (MET) is known to increase several biological effects of insulin (INS), but there is no information concerning its direct effects on protein synthesis. We studied the action of MET on albumin production by primary cultures of freshly isolated rat hepatocytes, alone or in combination with various agonists: INS, IGF-1, EGF, thyroxin, and dexamethasone. While having no effect alone, MET in vitro potentiates the effects of INS, IGF-1, and EGF. When this increasing effect toward INS was studied over a broad concentration range, MET appeared to improve low-acting INS levels and to intensify the maximal INS effects. In contrast, MET did not change the production of albumin stimulated by thyroxin or dexamethasone. Animals chronically pretreated with MET in vivo showed a higher yield of isolated hepatocytes, better attachment, and especially higher viability after liver perfusion and during cell culture. This may largely explain why basal albumin rates were higher than in in vitro-treated cells. The effect of MET in the presence of the agonists exhibited the same agonist-specificity as in vitro. Our data provide new insights into the pharmacology of MET by showing that hepatic protein synthesis is increased by MET and INS. From the specificity of action of MET towards INS, IGF-1, and EGF (but not thyroxin or dexamethasone), we hypothesize that this biguanide may act on intracellular pathways located between membrane receptors and sites of branching in the signaling cascades shared by these agonists.
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Albuminas/biossíntese , Fígado/metabolismo , Metformina/farmacologia , Albuminas/agonistas , Animais , Peso Corporal , Sobrevivência Celular , Células Cultivadas , Fator de Crescimento Epidérmico/farmacologia , Insulina/farmacologia , Fator de Crescimento Insulin-Like I/farmacologia , Fígado/efeitos dos fármacos , Masculino , Metformina/administração & dosagem , Ratos , Ratos Wistar , Fatores de TempoRESUMO
For overseas doctors, looking for higher training posts, the chance of being employed in the developed countries is becoming bleaker. This article considers the need for an increase in the number of local postgraduate training programmes in the Arab world in keeping with other developing countries. The model used for this study was an internal audit, of the postgraduate programme in ENT offered by King Faisal University in Dammam, Saudi Arabia. A dropout rate of more than 30 per cent among those who joined the programme reflected either the tougher standard of the course, or an inappropriate selection process. A major reason was the frustrating inability of the trainees to cope with the basic sciences course. This point was also addressed in the audit with a view to rationalizing the course to meet specific objectives.
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Países em Desenvolvimento , Educação de Pós-Graduação em Medicina , Auditoria Médica , Otolaringologia/educação , Escolaridade , Humanos , Arábia SauditaRESUMO
The detection of hearing impairment in neonatal life and prompt intervention prevents the hazards of physical and developmental delay in speech. During a 12-month period between April 1987 and March 1988, the hearing of 151 well babies and 30 high-risk babied aged 6 to 12 months attending the pediatric clinics of King Fahd Hospital of the University (KFHU), Al-Khobar, were screened. The modified Ewing-Stykar test was performed on all babies. Tympanometry, stapedial reflex, and brainstem evoked response (BERA) were carried out in the well babies who failed the screening test and in all high-risk babies. The failure rate was found to be 4.6% and 43.3% and the validity index 71.4% and 92.3% for the well and high-risk babies, respectively. The results of this limited study encourages us to recommend the implementation of this screening test in all the well baby and the high-risk baby clinics in the Kingdom of Saudi Arabia.
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Poluição do Ar/prevenção & controle , Incêndios , Educação em Saúde/métodos , Óleos , Humanos , Kuweit , GuerraRESUMO
The effect of fulguration shocks was studied using healthy ventricular myocardium of 12 pigs weighing between 63 and 100 kg. With shocks of equal energy to those used clinically, lesions seen 24 hours after the session in two pigs showed the formation of loose fibrosis and of marked cellular infiltration as well as zones of hypercontraction with calcium precipitation. The size of chronic lesions seen during periods ranging from one week to 2 months was studied in 4 pigs. Transmural plaques with a diameter of 1.5 to 2 cm were seen in the right ventricle. For the same energy levels of 240 Joules delivered to left ventricular tissue, lesions were of the same size but were never transmural. Under certain conditions, lesions were disposed in the direction of the neutral electrode.
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Eletrochoque , Ventrículos do Coração , Doença Aguda , Animais , Doença Crônica , Eletricidade , Eletrodos , Fibrose , Ventrículos do Coração/patologia , Suínos , Fatores de TempoRESUMO
The effect of fulguration shocks applied to the healthy ventricular myocardium in 6 pigs weighing between 63 and 100 kg showed that for shocks with the same energy level as those used in clinical practice, the immediate effects of fulguration result in a hemorrhagic zone with a diameter of up to 15 mm. Histopathological examination revealed tearing of the cardiomyocytes which is probably related to barotraumatic phenomena. Deflagrating shocks of 90 Joules, with a short development time (non-self-inductive circuit) can lead to perforation of the myocardium in both the right and left ventricles. In this animal model, arrhythmia was rare and did not lead to sudden death in any case. No vascular damage was observed.
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Eletrochoque , Ventrículos do Coração , Miocárdio/patologia , Doença Aguda , Animais , Arritmias Cardíacas/etiologia , Eletrochoque/efeitos adversos , Fatores de Risco , SuínosRESUMO
Collagenase isolated rat hepatocytes were transfected with liposome encapsulated pEJ (LE-pEJ), a plasmid carrying the human cellular activated Ha-rasEJ oncogene. A proliferative cell line was cloned from these cells transfected in vitro. It secreted per day 0.87 micrograms albumin and 0.32 microgram transferrin per 10(6) cells, and 11.06 nmol free and conjugated bile acids (BA) per mg protein. Also, it metabolized 2-acetylaminofluorene (2-AAF) into N- and ring-hydroxylated metabolites and 2-aminofluorene at rates of 1.50, 9.73, and 1.98 nmol/mg cell protein/24 hr, respectively. Rats were i.v. injected with both LE-pEJ and LE-p17hGHneo carrying the hGH cDNA gene, and secreted hGH in the plasma which induced the synthesis of anti-hGH antibodies. A cell line was cloned from cultures of primary hepatocytes isolated from the liver of transfected rats. After 2 to 3 months in culture, this cell line secreted per day 18.9 micrograms albumin and 11.0 micrograms transferrin per 10(6) cells, 38.75 nmol total BA per mg cell protein, and up to 31 ng hGH per 10(6) cells without cloning hGH recombinant cells. A 24 hr control culture of primary hepatocytes isolated from non transfected rats secreted 25.5 micrograms albumin and 11.7 micrograms transferrin per 10(6) cells, and produced 21.64 nmol total BA and 2.13 nmol N-OH-2-AAF per mg cell protein. Hence, Ha-rasEJ transfection of either hepatocytes in vitro or liver cells in vivo, initiated cell cycles leading to presumptive proliferating hepatocytes which express liver function.
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Expressão Gênica/genética , Genes ras , Fígado/citologia , Transfecção , 2-Acetilaminofluoreno/metabolismo , Albuminas/metabolismo , Animais , Ácidos e Sais Biliares/metabolismo , Southern Blotting , Western Blotting , Divisão Celular , Linhagem Celular , Linhagem Celular Transformada , Células Cultivadas , Hormônio do Crescimento/genética , Hormônio do Crescimento/metabolismo , Fígado/metabolismo , Masculino , Ratos , Ratos Endogâmicos , Transferrina/metabolismoRESUMO
We present the morphological features and clinical progression of lipoid proteinosis observed in six patients from a Saudi family. The index case presented with hoarseness and characteristic skin lesions. Some of the patients had photosentivity with milia and hypertrichosis. The diagnosis of lipoid proteinosis was confirmed by histopathology and by the findings of normal blood porphyrin levels. The condition is inherited as an autosomal recessive disorderm and consanguinity was an important factor. The rarity of this condition and the common occurrence of close-relative intermarriages in Saudi Arabia prompted this report, which we believe is the first and largest family with lipoid proteinosis possessing an established Arabian ancestry.