RESUMO
Type 2 Diabetes Mellitus (DM2) is considered a chronic inflammatory and systemic disease of low degree of intensity that promotes other pathologies such as cardiovascular disease, cancer and cognitive impairment. The relationship between inflammatory markers and insulin resistance in obese patients is known. Low-grade inflammation is an independent predictor of chronic diseases and mortality from all causes. Ferritin may be increased in DM2, but it is not clear if its cause is hyperglycemia or chronic inflammation. Objective: To evaluate the impact of a twenty-week program of exercise and diet on the markers of inflammation, metabolic control and the value of ferritin in a sample of obese patients with DM2, assisted in our National Health System. Materials and Methods: Open, controlled and randomized clinical trial in primary care patients. Of 161 patients with DM2 evaluated 35 fulfilled the inclusion criteria. They were divided into two homogeneous groups (control and intervention). Blood was taken from both groups to measure Ferritin along with other inflammatory and metabolic markers, before and after the exercise and diet program. These variables and the changes in serum Ferritin were analyzed. Results: At the beginning of the study Ferritin was elevated in 72.2% and 52.9% of the control and intervention group respectively. In the end, there was a significant difference between the groups, with benefit of the intervention group in the decrease of Interleukin-6, glycosylated hemoglobin, waist and body mass index. There was a non-significant decrease in C-reactive protein and Ferritin. This last one was not related to the other variables. The control group showed no significant decrease of any variable Conclusions: To apply a program of controlled exercise and diet, in the usual treatment of patients with DM2, improves inflammation and glucose homeostasis, discernible by the decrease in inflammatory parameters and by the improvement in the glycemic control. Serum ferritin was not useful to predict the metabolic control of these patients and assess the response to treatment.
Introducción: La diabetes mellitus 2 (DM2) es considerada una enfermedad inflamatoria crónica y sistémica de bajo grado de intensidad que promueve otras patologías. Es conocida la relación entre |inflamación e insulino resistencia en pacientes obesos, siendo un predictor independiente de morbimortalidad por todas las causas. Ferritina puede estar aumentada en la DM2, no es claro si su causa es la hiperglucemia o la inflamación crónica. Objetivo: Evaluar el impacto de un programa de veinte semanas de ejercicio y dieta sobre los marcadores de inflamación, control metabólico y el valor de ferritina en una muestra de pacientes con DM2 obesos. Materiales y Métodos: Ensayo clínico abierto, controlado y randomizado en pacientes del nivel primario de atención. Se evaluaron 35 pacientes con DM2 que se dividieron en dos grupos homogéneos (control e intervención). Se extrajo sangre para medir Ferritina, marcadores inflamatorios y metabólicos, antes y luego del programa de ejercicio y dieta. Analizamos los cambios de esas variables. Resultados: Ferritina estaba elevada en el 72.2% y 52.9% del grupo control e intervención respectivamente. Al final hubo una diferencia significativa entre los grupos, con beneficio del grupo intervención en el descenso de Interleucina-6, hemoglobina glicosilada, cintura e índice de masa corporal. Hubo un descenso no significativo de Ferritina y Proteína C reactiva. Ferritina no presentó relación con las demás variables. En el grupo control no hubo descenso significativo de ninguna variable. Conclusiones: Aplicar un programa de ejercicio controlado y dieta, en el tratamiento de pacientes con DM2, mejora la inflamación y la homeostasis de la glucosa, discernible por el descenso de parámetros inflamatorios y por la mejora en el control glucémico. Ferritina sérica no fue útil para predecir el control metabólico y valorar la respuesta al tratamiento.
Assuntos
Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Idoso , Exercício Físico/fisiologia , Diabetes Mellitus/terapia , Ferritinas/sangue , Proteína C-Reativa , Biomarcadores , Diabetes Mellitus Tipo 2/sangue , Dieta , Inflamação , ObesidadeRESUMO
TITLE: Sindrome de Wolf-Hirschhorn: simple omision al citar?
Assuntos
Cromossomos Humanos Par 4 , Síndrome de Wolf-Hirschhorn/genética , Deleção Cromossômica , HumanosRESUMO
The aim of this study was to compare pregnancy per artificial insemination (P/AI) from service sires used on artificial insemination after estrus detection (EAI) or timed artificial insemination (TAI) breedings. Confirmed artificial insemination outcome records from 3 national data centers were merged and used as a data source. Criteria edits were herd's overall P/AI within 20 and 60%, a minimum of 30 breedings reported per herd-year, service sires that were used in at least 10 different herds with no more than 40% of the breedings performed in a single herd, breeding records from lactating Holstein cows receiving their first to fifth postpartum breedings occurring within 45 to 375 d in milk, and cows with 1 to 5 lactations producing a minimum of 6,804 kg. Initially 1,142,859 breeding records were available for analysis. After editing, a subset of the data (n=857,539) was used to classify breeding codes into either EAI or TAI based on weekly insemination profile in each individual herd. The procedure HPMIXED of SAS was used and took into account effects of state, farm, cow identification, breeding month, year, parity, days in milk at breeding, and service sire. This model was used independently for the 2 types osires f breeding codes (EAI vs. TAI), and service sire P/AI rankings within each breeding code were performed for sires with >700 breedings (94 sires) and for with >1,000 breedings (n=56 sires) following both EAI and TAI. Correlation for service sire fertility rankings following EAI and TAI was performed with the PROC CORR of SAS. Service sire P/AI rankings produced with EAI and TAI were 0.81 (for sires with >700 breedings) and 0.84 (for sires with >1,000 breedings). In addition, important changes occurred in service sire P/AI ranking to EAI and TAI for sires with less than 10,000 recorded artificial inseminations. In conclusion, the type of breeding strategy (EAI or TAI) was associated with some changes in service sire P/AI ranking, but ranking changes declined as number of breedings per service sire increased. Future randomized studies need to explore whether changes in P/AI ranking to EAI versus TAI are due to specific semen characteristics.
Assuntos
Bovinos/fisiologia , Fertilidade , Inseminação Artificial/veterinária , Animais , Cruzamento , Estro , Detecção do Estro , Feminino , Inseminação Artificial/métodos , Lactação , Masculino , Leite , Gravidez , SêmenRESUMO
We report a Mexican mestizo 2 months old male with Fryns syndrome and vertebral defects. The patient's phenotype included typical craniofacial dysmorphism, short neck, agenesis of the corpus callosum, congenital left diaphragmatic hernia, complex heart disease, C1 to C6 vertebral agenesis with increased interpedicular space, thoracic rotoscoliosis, broad medial ends of the clavicles, brachytelephalangy of hands and feet with fingers axially deviated, and nail hypoplasia. Renal and chromosomal evaluations were normal. Since this is the first description of cervical vertebrae agenesis and thoracic rotoscoliosis in Fryns syndrome, we propose that these clinical and radiological features should be incorporated to the Fryns syndrome phenotype and specifically looked for in other children.
Assuntos
Anormalidades Múltiplas , Vértebras Cervicais/anormalidades , Disostoses/congênito , Cardiopatias Congênitas , Hérnias Diafragmáticas Congênitas , Escoliose/congênito , Vértebras Torácicas/anormalidades , Anormalidades Múltiplas/diagnóstico por imagem , Vértebras Cervicais/diagnóstico por imagem , Disostoses/diagnóstico por imagem , Fácies , Evolução Fatal , Cardiopatias Congênitas/diagnóstico por imagem , Hérnia Diafragmática/diagnóstico por imagem , Humanos , Lactente , Deformidades Congênitas dos Membros/diagnóstico por imagem , Masculino , México , Fenótipo , Radiografia , Escoliose/diagnóstico por imagem , Vértebras Torácicas/diagnóstico por imagemRESUMO
Secondary hyperparathyroidism (SHPT) is a serious complication in dialysis patients and is routinely managed with medical therapy. Refractory disease is usually treated either surgically or by local ethanol injection into the parathyroid glands. Total parathyroidectomy with deltoid implant can be successful; however, recurrent, resistant disease is not uncommon. Local ethanol injection was applied to the deltoid autoimplant of a patient with recurrent, resistant SHPT, which had not been resolved with surgical treatment. Serum intact parathyroid hormone (iPTH) levels subsequently decreased from 1,400 to 219 pg/dl and remained stable for the next 6 months. To our knowledge, this procedure has not been previously described in the literature. Local injection of ethanol may represent an interesting alternative to surgery for the treatment of deltoid parathyroid cell hyperplasia in patients in which surgical treatment is not an option.
Assuntos
Depressores do Sistema Nervoso Central/administração & dosagem , Etanol/administração & dosagem , Hiperparatireoidismo Secundário/tratamento farmacológico , Feminino , Humanos , Hiperparatireoidismo Secundário/cirurgia , Injeções Intralesionais , Falência Renal Crônica/complicações , Falência Renal Crônica/terapia , Pessoa de Meia-Idade , Glândulas Paratireoides/transplante , Paratireoidectomia , Recidiva , Diálise Renal/efeitos adversosRESUMO
We report on a constitutional dup(7)(q21q22.2) and compile 25 similar mid-7q imbalances in order to sort out relevant cytogenetic aspects. The propositus was first karyotyped elsewhere at 2 years of age and found to have a de novo 7q+ chromosome. When reassessed at 22 years of age, he exhibited overt mental disability, marked speech delay, mild short stature, frontal bossing, and mild dysmorphisms. The patient's chromosomes were analyzed in metaphases from a lymphocyte culture by means of G-banding and FISH assays with a wcp 7 and two dual probes, namely ELN (7q11)/D7S2686 (7q22) and ELN (7q11)/D7S486, D7S522 (q31). G-bands revealed a 7q21q22.2 direct duplication that was confirmed by FISH: the 7q+ was entirely painted with the wcp and had two 7q22 signals but a single 7q31 signal. Thus, the patient's karyotype was 46,XY, dup(7)(q21q22.2).ish dup(7)(q21 q22.2)(wcp7+, ELN+, D7S2686++, D7S486+)dn. Among 26 interstitial duplications confined to the segment 7q21q34, 13 were contiguous de novo duplications, one was due to a de novo ins (19;7), and 12 were inherited from carriers of inter-/intrachromosomal insertions or complex rearrangements. Mean paternal and maternal ages in de novo contiguous duplications of paternal/unknown (n = 9) or maternal/unknown (n = 10) descent were 33.44 and 30.9 yr whereas median ages were 29 and 30, respectively. The patient's clinical picture confirms the mild or moderate phenotypical repercussion of mid-7q duplications; among 25 patients born alive, 24 (including six teenagers or older) were still alive when reported on.
Assuntos
Citogenética/métodos , Trissomia/genética , Adulto , Bandeamento Cromossômico/métodos , Deleção Cromossômica , Cromossomos Humanos Par 7/genética , Deficiências do Desenvolvimento/complicações , Deficiências do Desenvolvimento/genética , Humanos , Hibridização in Situ Fluorescente/métodos , Deficiência Intelectual/complicações , Deficiência Intelectual/genética , Cariótipo , Masculino , Adulto JovemRESUMO
La hemorragia de vías digestivas altas (HVDA) es una emergencia habitual; su etiología más común es laúlcera péptica. La restauración del volumen intravascular y la presión arterial son la prioridad del manejo previo al identificar la causa del sangrado. La esofagogastroduodenoscopia (EGD) debe realizarse luego de lareanimación inicial, así como lograrse la estabilización hemodinámica, para identifi car la causa del sangradoy dar el tratamiento necesario. Se realiza un estudio sobre el evento en un hospital de referencia de tercernivel, en Cundinamarca, Colombia.Materiales y métodos: Estudio descriptivo retrospectivo; datos obtenidos de la historia clínica electrónica de pacientes adultos que consultaron por urgencias en el Hospital Universitario de la Samaritana (HUS) por HVDA, diagnosticada por hematemesis, melenas, rectorragia o anemia, y a quienes se les realizó EGDdurante el periodo abril de 2010-abril de 2011. Resultados: Se atendió a 385 pacientes a lo largo del período de estudio; se excluyó a 100 de ellos,debido a hemorragia secundaria a várices esofágicas, historia clínica incompleta y hemorragia digestivabaja, para un total de 285 pacientes analizados. Conclusiones: La mayoría de la población atendida en el Hospital Universitario de La Samaritana (HUS)por HVDA son adultos mayores de 60 años. La úlcera péptica sigue siendo el diagnóstico más común asociadoal uso de AINE y ASA. La mortalidad es comparable a la de las regencias internacionales.
Upper gastrointestinal tract bleeding is a common emergency whose most common etiology is a peptic ulcer.Restoration of intravascular volume and blood pressure management are priorities before identifyingthe cause of bleeding. After initial resuscitation and after hemodynamic stabilization has been achieved, anesophagogastroduodenoscopy (EGD) should be performed to identify the cause of bleeding and determinethe treatment needed. This is a study performed at a third level referral hospital in Cundinamarca, Colombia.Materials and Methods: This is a retrospective study of data from electronic medical records of adult patients admitted to the emergency room of the Hospital Universitario de la Samaritana (HUS) because of uppergastrointestinal tract bleeding which ahd been diagnosed because of hematemesis, melena, rectal bleedingand/or anemia. Patients all underwent EGD between April 2010 and April 2011.Results: 385 patients with upper gastrointestinal tract bleeding were seen during the study period, but 100were excluded because of bleeding secondary esophageal varices, incomplete clinical histories and lowergastrointestinal bleeding. A total of 285 patients were included. 69.1 % were older than 60 years, 73.3 % hadhypertension, 55.1 % reported use of infl ammatory drugs (NSAIDs) and aspirin (ASA), 19.6 % reported previous bleeding episodes, and 17.9 % had hemodynamic instability. 63 patients (22.1 %) required endoscopichemostasis, and 32 (11.2 %) experienced rebleeding. Overall mortality reported was 13.1 % of which 55.3 %were men. Mortality attributable to gastrointestinal bleeding was 3.1 %.Conclusions: The majority of patients served by the HUS with upper GI bleeding are adults over 60 years.Peptic ulcers remain the most common diagnosis associated with the use of NSAIDs and ASA. The mortalityrate is comparable to international standards.
Assuntos
Humanos , Masculino , Adulto , Feminino , Idoso , Endoscopia do Sistema Digestório , Hemorragia , Hemostasia , MortalidadeRESUMO
La disfagia es síntoma común en varias enfermedades neurológicas, en afectados por eventos cerebrovasculares o como consecuencia de traumas craneoencefálicos. Otro grupo importante que desarrolla trastornos de la deglución son aquellos adultos mayores con pérdida progresiva de las funciones cognitivas como es el caso de pacientes con demencia tipo Alzheimer, en donde la enfermedad se acompaña de complicaciones respiratorias que son potencialmente evitables, si la disfagia es reconocida precozmente y se trata adecuadamente
Dysphagia is a common symptom in many neurological diseases, particularly occurring after a stroke or head trauma. Another important group of patients who develop swallowing dysfunctions are older adults with progressive loss of cognitive functions such as patients with Alzheimers disease. This type of disease is accompanied by diffi culty swallowing that has been associated with increased mortality due to respiratorycomplications that are potentially preventable if dysphagia is recognized early so that appropriate strategiesfor treatment can be used
Assuntos
Humanos , Masculino , Adulto , Feminino , Doença de Alzheimer , Deglutição , Transtornos de Deglutição , EsôfagoRESUMO
We compiled 104 constitutional de novo or sporadic rearranged chromosomes mimicking recombinants from a parental pericentric inversion in order to comment on their occurrence and parental derivation, meiotic or postzygotic origin, mean parental ages, and underlying pathways. Chromosomes involved were 1-9, 13-18, 20-22, and X (64 autosomes and 40 X chromosomes). In the whole series, mean paternal and maternal ages in cases of paternal (proved or possible; n=29) or maternal (proved or possible; n=36) descent were 31.14 and 28.31 years, respectively. Rearranged X chromosomes appeared to be of paternal descent and to arise through intrachromosomal non-allelic homologous recombination (NAHR), whereas rec-like autosomes were of either maternal or paternal origin and resulted from mechanisms proper of non-recurrent rearrangements. Except for some mosaic cases, most rearranged chromosomes apparently had a meiotic origin. Except for 8 rearranged X chromosomes transmitted maternally, all other cases compiled here were sporadic. Hence, the recurrence risk for sibs of propositi born to euploid parents is virtually zero, regardless of the imbalance's size. In brief, recombinant-like or rea chromosomes are not related to advanced parental age, may (chromosome X) or may not (autosomes) have a parent-of-origin bias, arise in meiosis or postzygotically, and appear to be mediated by NAHR, nonhomologous end joining, and telomere transposition. Because rearranged chromosomes 10, 11, and Y are also on record, albeit just in abstracts or listed in large series, we remark that all chromosomes can undergo this distinct rearrangement, even if it is still to be described for pairs 12 and 19.
Assuntos
Deleção Cromossômica , Duplicação Cromossômica , Cromossomos Humanos/genética , Mutação , Adulto , Fatores Etários , Instabilidade Cromossômica , Inversão Cromossômica , Feminino , Genética Populacional/métodos , Humanos , Padrões de Herança , Masculino , Meiose , Proibitinas , Recombinação Genética , Fatores de Risco , Telômero/genética , Adulto JovemRESUMO
La hemorragia de vías digestivas altas por várices gástricas, aunque menos frecuente que la secundaria a lasesofágicas, es una causa de alta mortalidad en los pacientes cirróticos. La ligadura es el tratamiento óptimoen las várices esofágicas, pero este tratamiento para las gástricas es todavía muy discutido.Presentamos el caso de una anciana, con antecedente de cirrosis hepática secundaria a esteatosis hepáticano alcohólica (NASH), que ingresa, con hemorragia de vías digestivas altas, evidenciándose en laesofagogastroduodenoscopia una várice fúndica subcardial con sangrado activo, para la cual se decide manejocon ligadura con banda de caucho con resultado exitoso y desaparición de la várice en control posterior
Upper digestive tract bleeding due to gastric varices, although less common than bleeding secondary toesophageal varices, is one of the causes of high mortality in cirrhotic patients. Although band ligation is theoptimal treatment for esophageal varices, its use for gastric varices is still hotly debated.We report the case of an elderly woman with a history of hepatic cirrhosis secondary to nonalcoholicsteatohepatitis (NASH) and obesity who was admitted to the hospital with upper digestive tract bleeding.An esophagogastroduodenoscopy showed an actively bleeding subcardial varice in the gastric fundus. Thedecision was made to manage the bleeding with rubber band ligation. The outcome was successful outcome,and the varice had disappeared in subsequent check-ups
Assuntos
Idoso , Varizes Esofágicas e Gástricas , Hemorragia , LigaduraRESUMO
We report on an 8-year-old girl with a typical Down syndrome phenotype and a 46,XX,rea(21)(qter-->p12::q21.2-->qter).ish rea(21)(qter-->pl2::q21.2-->qter)(LSI 21++,AML1++) karyotype; the mother had normal chromosomes but the father was unavailable. The great resemblance of the patient's rearranged chromosome to the rec(21)dup(q) from a parental pericentric inversion suggests that it would be better depicted as a recombinant-like chromosome. Altogether, 13 recombinant-like chromosomes of de novo or unknown (parents not karyotyped) origin have been described. Although these rearranged chromosomes should formally be described as derivatives because no parental inversion is identified, we underlie that the unofficial term recombinant-like would be more appropriate because no "multiple aberrations within a single chromosome" (as required by the ISCN) have been proved, not to mention that the term derivative usually designates abnormal chromosomes resulting from a translocation between non homologous chromosomes. Accordingly, we prefer to identify such rearrangements of a single chromosome precisely with the more neutral and sanctioned term rea (expanding its use to designate a rearranged chromosome) coupled with the lengthy description of the abnormal chromosome. We assume that the rea(21) chromosomes result from illegitimate recombination between non allelic homologous LCRs located in both the short and long arms.
Assuntos
Duplicação Cromossômica/genética , Cromossomos Humanos Par 21/genética , Síndrome de Down/genética , Terminologia como Assunto , Criança , Aberrações Cromossômicas , Deleção Cromossômica , Inversão Cromossômica , Feminino , Humanos , Hibridização in Situ Fluorescente , Cariótipo , Cariotipagem , Proibitinas , Mapeamento por Restrição , Translocação GenéticaRESUMO
INTRODUCTION: It is known that chronic kidney disease (CKD) and senescence bring about a progressive reduction in glomerular filtration rate (GFR) and that in the former this is usually associated with an increase in the fractional excretion of calcium, phosphorus, magnesium, and uric acid. However, it has not yet been explained how these substances are excreted in the healthy oldest old. Thus, in the present study, we examined the renal handling of these substances in very aged people in comparison with CKD patients with similar GFR levels (stage III-CKD). MATERIALS AND METHODS: Twenty volunteers were studied; 10 of them were healthy very old (VO) (≥ 75 years old) individuals and 10 were stage III CKD patients. Exclusion criteria were as follows: presence of altered (abnormally high or low) plasma calcium, phosphorus, magnesium and uric acid, as well as previous diagnoses of diabetes mellitus and obstructive uropathy and use of drugs that could alter plasma levels of the studied substances. All volunteers were on a diet with the same content of these elements (3-day dietary register). We measured calcium, phosphorus, magnesium, uric acid, creatinine in serum plasma and morning urine, as well as serum parathyroid hormone level, in each volunteer. From these data, fractional excretion (FE) of these substances was obtained. A statistical analysis was carried out using the Wilcoxon test. RESULTS: Serum creatinine: 1.8 ± 0.4 mg/dl (CKD) versus 0.8 ± 0.2 mg/dl (VO), p = 0.0002; serum calcium: 9.1 ± 0.3 mg/dl (CKD) versus 8.7 ± 0.4 (VO), p = 0.022; serum magnesium: 2.3 ± 0.2 mg/dl (CKD) versus 2.0 ± 0.1 (VO), p = 0.05; serum phosphorus: 3.9 ± 0.5 mg/dl (CKD) versus 3.0 ± 0.4 mg/dl (VO), p = 0.002; serum uric acid: 6.6 ± 1.5 (CKD) versus 5.2 ± 1.4 mg/dl (VO), p = 0.04; FE of calcium: 2.5 ± 1 % (CKD) versus 0.8 ± 0.3 % (VO), p = 0.04; FE of magnesium: 7.2 ± 4.1 % (CKD) versus 2.9 ± 0.9 % (VO), p = 0.02; FE of phosphorus: 25 ± 9 % (CKD) versus 9.1 ± 5.7(VO), p = 0.001; FE of uric acid: 10 ± 3 % (CKD) versus 8 ± 5 % (VO), p = 0.05. CONCLUSION: Serum levels and FE of calcium, phosphorus, magnesium and uric acid were significantly higher in CKD patients compared to healthy very old people with similar GFR, except for serum magnesium and FE of uric acid, which were similar in both groups.
Assuntos
Envelhecimento/sangue , Envelhecimento/urina , Insuficiência Renal Crônica/sangue , Insuficiência Renal Crônica/urina , Adulto , Idoso , Idoso de 80 Anos ou mais , Envelhecimento/fisiologia , Cálcio/sangue , Cálcio/urina , Estudos de Casos e Controles , Creatinina/sangue , Creatinina/urina , Feminino , Taxa de Filtração Glomerular , Humanos , Magnésio/sangue , Magnésio/urina , Masculino , Fósforo/sangue , Fósforo/urina , Insuficiência Renal Crônica/fisiopatologia , Ácido Úrico/sangue , Ácido Úrico/urinaRESUMO
We report on 2 similarly affected cousins with a compound imbalance resulting from a familial t(5;9)(q34;p23) and entailing both an â¼17-Mb 5q terminal duplication and an â¼12-Mb 9p terminal deletion as determined by G-banding, subtelomere FISH, and aCGH. The proband's karyotype was 46,XX,der(9)t(5;9)(q34;p23)mat.ish der(9)t(5;9)(q34;p23)(9pter-,5qter+).arr 5q34q35(163,328,000-180,629,000)×3, 9p24p23(194,000-12,664,000)×1. Her cousin had the same unbalanced karyotype inherited from his father. The clinical phenotype mainly consists of a distinct craniofacial dysmorphism featuring microcephaly, flat facies, down slanting palpebral fissures, small flat nose, long philtrum, and small mouth with thin upper lip. Additional remarkable findings were craniosynostosis of several sutures, craniolacunia and preaxial polydactyly in the proband and hypothyroidism in both subjects. The observed clinical constellation generally fits the phenotypic spectrum of the 5q distal duplication syndrome (known also as Hunter-McAlpine syndrome), except for the thyroid insufficiency which can likely be ascribed to the concurrent 9p deletion, as at least 4 other 9pter monosomic patients without chromosome 5 involvement had this hormonal disorder. The present observation further confirms the etiology of the HMS phenotype from gain of the 5q35âqter region, expands the clinical pictures of partial trisomy 5q and monosomy 9p, and provides a comprehensive list of 160 patients with 5q distal duplication.
Assuntos
Cromossomos Humanos Par 5/genética , Hipotireoidismo/genética , Adulto , Deleção Cromossômica , Cromossomos Humanos Par 9/genética , Craniossinostoses/genética , Síndrome de Cri-du-Chat/genética , Feminino , Transtornos do Crescimento/genética , Humanos , Hibridização in Situ Fluorescente , Lactente , Deficiência Intelectual/genética , Cariotipagem , Masculino , Trissomia/genéticaRESUMO
Classical swine fever (CSF) is considered to be endemic in Peru with outbreaks reported to the World Organization for Animal Health as recently as 2008 and 2009. Nevertheless, little is known regarding the genetic subgroup(s) of CSF virus that are circulating in Peru or their relationship to recent CSF viruses that have been isolated from neighbouring South American countries or other parts of the world. In this study, we molecularly characterize CSF viruses that were isolated from domestic pigs from different regions of Peru from the middle of 2007 to early 2008. All virus isolates were found to belong to genetic subgroup 1.1, consistent with the subgroup of viruses that have been identified from other South American countries. Although the Peruvian isolates are most closely related to viruses from Colombia and Brazil, they form a monophyletic clade, which suggests they have a distinct evolutionary history.
Assuntos
Vírus da Febre Suína Clássica/genética , Peste Suína Clássica/virologia , Filogenia , Animais , Peste Suína Clássica/epidemiologia , Vírus da Febre Suína Clássica/classificação , Peru/epidemiologia , Reação em Cadeia da Polimerase Via Transcriptase Reversa , SuínosRESUMO
El propósito del presente estudio fue evaluar el consumo de tabaco no fumado (Chimó), frecuencia, cantidad, lugar de colocación, marcas y la historia de uso en niños adolescentes venezolanos. 202 sujetos fueron evaluados, en edades comprendidas entre 4 y 73 años y de estos, 109 fueron niños y adolescentes en edades entre 4 y 17 años. Todos los participantes en la presente investigación firmaron un consentimiento informado. Cada paciente respondió un cuestionario estructurado a tal fin y los datos fueron registrados. El número de sujetos que reportó el uso de chimó fue de 15 (13,7%), la edad media fue 11,7±3,4 años y el tiempo de uso fue de 1 semana a 5 años. El sitio mas frecuente de colocación fue la cara lingual de los dientes antero-inferiores 11/15 (73,3%). El mayor porcentaje de la población estudiada se ubicó en el nivel medio bajo de acuerdo al criterio de Graffar. El uso del chimó se había reportado en adultos solamente en algunas regiones de Venezuela, sin embargo, este hábito no había sido previamente reportado en este grupo de edad por lo que constituye el primer reporte de su uso en edades pediátricas. Estudios controlados y de seguimiento se recomiendan en estas poblaciones para evaluar el efecto sobre la salud bucal y sistémica
The aim of the present study was to evaluate the use of smokeless tobacco (Chimo), frequency, and quantity, site of placement, brand and history use among children and adolescents in a Venezuelan population. A total of 202 subjects were evaluated, age ranging 4-73 years, of these 109 were children and adolescents age ranging 4-17 year old. A questionnaire was given to each patient and the data was recorded. A written consent was filled out in each case. The number of subjects reporting chimo use was 15 (13.7%), mean age was 11.7±3.4 years and the time of use ranged between a week and five years. Other habits besides chimo use included alcohol in one patient. . The most common site of placement was the lingual aspect of the lower anterior teeth 11/15 (73.3%). The higher percentage of the studied population belongs to the middle low socioeconomic group. Chimo was previously known as a form of smokeless tobacco placed of chewed among adults in several regions of Venezuela; however, this habit was not previously reported in this age group. Further studies and follow up should be performed in this population to evaluate the effect on oral and systemic health
Assuntos
Humanos , Masculino , Feminino , Criança , Adolescente , Adolescente , Criança , Saúde Bucal , Tabaco sem Fumaça , OdontologiaRESUMO
El Síndrome de Sjógren (SS) es una exocrinopatía autoinmune crónica que afecta primariamente a las glándulas salivales y lagrimales y ocasionalmente algunos pacientes pueden presentar afección extraglandular. Entre las principales manifestaciones bucales se encuentran la xerostoma, mucositis, glositis, queilitis, candidiasis atrófica y ulceras crónicas producidas por el flujo salival disminuido. Entre otras alteraciones se incluye la enfermedad periodontal, principalmente la gingivitis. Dependiendo de la severidad de la enfermedad podemos encontrar un número elevado de caries cervicales. Se presenta por primera vez una revisión de las diferentes alternativas de tratamiento tanto local como sistémico para las manifestaciones bucales del síndrome, así como, el manejo multidisciplinario dirigido hacia el tratamiento periodontal, caries dental y protésico.
Sjogren Syndrome (SS) is a chronic autoimmune exocrinopathy that primarily affects salivary and lacrimal glands. Occasionally, could present extraglandular involvement. The most common oral findings include mucositis, glossitis, cheilitis, atrophic candidiasis and non specific chronic ulcers mainly produced by the severe decreased salivary flow rate. Other manifestations include periodontal disease mainly gingivitis and cervical caries. A current review of the different modalities of treatment of the oral manifestations both local and systemic is presented for the first time. Additionally, an updated multidisciplinary approach focused on periodontal, preventive and prosthetic is presented.
RESUMO
In this cross-sectional study, a stratified two-stage random sampling procedure was employed to select 221 dairy herds for bulk tank milk (BTM) sampling, and a subset of 55 dairy herds for individual blood sampling of a number of young animals (spot test), to predict presence or absence of current BVDV infection, and for data collection. The prediction was based on the high probability of seropositivity in groups of animals where PI animals are present because of the efficient spread of virus from PI animals to the surrounding group. BTM samples were collected in August 2003 (n=192) and February 2004 (n=195), and the 55 herds selected for spot testing and data collection were visited in December 2003. All samples were tested for presence of BVDV specific antibodies using a commercial indirect ELISA (SVANOVA Biotech AB, Uppsala, Sweden). The results demonstrated a very high level of exposure to BVDV in the region, and the proportion of herds with high antibody levels in the BTM was above 95% on both occasions. Despite this, almost two thirds of the herds had spot test results indicating absence of current infection, suggesting a high probability of self-clearance. A logistic regression model with the results from the spot tests as dependent variable was used to investigate possible herd and management factors associated with self-clearance, and suggested that this may occur regardless of herd size. Even though it is well established that the process of identification and elimination of PI animals is required within a systematic BVDV eradication programme, the present study strongly suggests that many herds may be cleared without intervention even in regions with high cattle density and high BVDV prevalence. Consequently, in any BVDV infected population (regardless of the herd-level BVDV seroprevalence), and at any given point of time, a large proportion of the herds will be free from infection due to self-clearance. Self-clearance is therefore a process that works in favour of any effort to control BVDV, which should be taken into account when planning and assessing the cost-effectiveness of a systematic control programme.
Assuntos
Anticorpos Antivirais/análise , Doença das Mucosas por Vírus da Diarreia Viral Bovina/epidemiologia , Doença das Mucosas por Vírus da Diarreia Viral Bovina/imunologia , Vírus da Diarreia Viral Bovina/isolamento & purificação , Imunidade Inata , Leite/virologia , Animais , Anticorpos Antivirais/sangue , Doença das Mucosas por Vírus da Diarreia Viral Bovina/sangue , Bovinos , Estudos Transversais , Ensaio de Imunoadsorção Enzimática/métodos , Ensaio de Imunoadsorção Enzimática/veterinária , Feminino , Modelos Logísticos , Peru/epidemiologiaRESUMO
A de novo complex chromosome rearrangement (CCR) found in a phenotypically abnormal boy was characterized by G-bands, FISH with subtelomere probes, and M-FISH. The G-banding analysis revealed involvement of chromosomes 1, 2, 3, 15, and 18 with (at least) eight breakpoints, five nonreciprocal translocations (1q --> 2q --> 8q --> 15q --> 2p --> 1q), and a 3p insertion into the der(2); there was also a presumptive deletion of 1q41. The 5 derivatives were described as follows: der(1)(1pter --> 1q32.3?::2p21--> 2pter),der(2)(1qter --> 1q42?::2q24.2 --> 2p21::3p13 --> 3p26::15q15 --> 15qter),der(3)(3qter --> 3p13:),der(15)(15pter --> 15q15::18q11 --> 18qter),der(18)(18pter --> 18q11::2q24.2 --> 2qter). The molecular assays confirmed the segmental composition of each derivative and documented the localization of most relevant telomeres. In addition to the novelty of the 1, 2, 3, 15 and 18 combination, this CCR may also be unique in the sense that it represents a cluster of 6 nonreciprocal transpositions regardless of the occurrence (or lack thereof) of secondary unbalances. Finally, there appears to be an excess of CCRs in fetuses conceived by intracytoplasmic sperm injection.