RESUMO
The 4q-syndrome comprises all microscopically visible deletions of the long arm of chromosome 4. Here we review the phenotypical characteristics of 101 literature cases and delineate this evolving deletion syndrome further. The most common anomalies observed in these patients were craniofacial (99%), digital (88%), skeletal (54%) and cardiac (50%). Nearly all of the surviving probands were delayed in their neurodevelopment and approximately two third of the study group showed ante- or postnatal growth deficiency. The overall mortality was twenty eight percent.
Assuntos
Cromossomos Humanos Par 4/genética , Deleção de Genes , Humanos , Fenótipo , SíndromeRESUMO
Since 1993, targeted screening of high risk Camden and Islington babies has been carried out in hospital using the transient otoacoustic emission (TEOAE) technique and auditory brainstem responses (ABR). Because targeted screening is difficult to implement, a community pilot study using TEOAE was started in 1995, covering 7% of the resident population. Although uptake has not been above 80%, client satisfaction has been high and numbers requiring more detailed tertiary assessment have been modest (0.5% of the population screened). A comparison was made between the cost of a universal neonatal screen using TEOAE and distraction testing at 7 months of age. The neonatal screen would be no more expensive to implement universally, even when equipment costs are included. A combination of a universal neonatal screen with distraction testing at 7 months for those not screened is likely to give 96% coverage of hearing screening in the first year of life.
Assuntos
Serviços de Saúde Comunitária/métodos , Testes Auditivos/métodos , Triagem Neonatal/métodos , Emissões Otoacústicas Espontâneas , Serviços de Saúde Comunitária/economia , Potenciais Evocados Auditivos do Tronco Encefálico , Estudos de Viabilidade , Custos de Cuidados de Saúde , Testes Auditivos/economia , Testes Auditivos/instrumentação , Humanos , Lactente , Recém-Nascido , Londres , Triagem Neonatal/economia , Projetos PilotoRESUMO
In a prospective study of low-dose antibacterial prophylaxis of childhood urinary tract infection (UTI), co-trimoxazole and trimethoprim (TMP) have been compared for efficacy in preventing UTI, for their effect on the rectal flora and for secular selection of TMP-resistant organisms. Between 1979 and 1986, 334 children who had proven infection of an unobstructed urinary tract complied in a regimen of low-dose prophylaxis together with measures to eliminate residual urine for at least 6 months. Of these children, 167 had vesico-ureteric reflux and 27 had renal scarring. There was no difference between the two drugs in compliance, which was very good, or in the occurrence of side-effects, which were minimal. Recurrence rates of further infection were 1 per 22 child years for the 226 children receiving cotrimoxazole and 1 per 18 child years for the 108 receiving TMP. All but one of these urinary pathogens were resistant to TMP and reinfection of the urinary tract generally occurred following lapses in attention to complete bladder emptying. Neither a secular increase in recurrent infections during this period, nor a significant change in the proportions of TMP-resistant faecal coliform organisms, was observed. TMP and co-trimoxazole appeared to be equally effective prophylactic agents.
Assuntos
Combinação Trimetoprima e Sulfametoxazol/uso terapêutico , Trimetoprima/uso terapêutico , Infecções Urinárias/prevenção & controle , Criança , Resistência Microbiana a Medicamentos , Enterobacteriaceae/efeitos dos fármacos , Enterobacteriaceae/isolamento & purificação , Feminino , Humanos , Intestinos/microbiologia , Masculino , Cooperação do Paciente , Estudos Prospectivos , Recidiva , Trimetoprima/administração & dosagem , Trimetoprima/efeitos adversos , Combinação Trimetoprima e Sulfametoxazol/administração & dosagem , Combinação Trimetoprima e Sulfametoxazol/efeitos adversos , Infecções Urinárias/complicações , Infecções Urinárias/tratamento farmacológico , Refluxo Vesicoureteral/complicaçõesRESUMO
The findings on 99mTc dimercaptosuccinic acid (DMSA) scans were examined in 54 patients aged 3 to 33 years in whom renal scarring had been diagnosed radiologically in childhood after urinary tract infection. There was no recent history of infection. Vesicoureteric reflux had been present in 48 patients and had stopped in 23 at the time of the DMSA scan. In six of the 72 radiologically scarred kidneys, the DMSA scan appeared normal but scarring would have been overlooked in only two of the 54 patients. DMSA scan changes are non-specific and underestimated individual scars in 21 kidneys. The intravenous urogram and the DMSA scan showed good correlation but should be regarded as complementary investigations in these patients, giving morphological and functional information, respectively. On DMSA scans the timing of any preceding urinary tract infection must be considered in order to differentiate diffuse potentially reversible defects in isotope uptake after urinary tract infection from those due to permanent renal scarring.
Assuntos
Cicatriz/diagnóstico por imagem , Nefropatias/diagnóstico por imagem , Rim/diagnóstico por imagem , Compostos Organometálicos , Succímero , Compostos de Sulfidrila , Tecnécio , Adolescente , Adulto , Fatores Etários , Criança , Pré-Escolar , Cicatriz/patologia , Feminino , Humanos , Rim/patologia , Nefropatias/patologia , Masculino , Radiografia , Cintilografia , Ácido Dimercaptossuccínico Tecnécio Tc 99mRESUMO
In 1975 trimethoprim-sulfamethoxazole (TMP-SMZ) was found effective in the prophylaxis of childhood urinary tract infection. The rate of recurrence in 130 children who received prophylaxis was only 0.05 infections per year. No fecal coliforms were found in 70% of rectal swabs, and only 10% of the isolates of coliform organisms were resistant to TMP. During effective, low-dose urinary prophylaxis with TMP-SMZ in 130 children for periods of two to 10 years, no effects of the drug on hematologic or renal function were observed, and somatic growth was normal. However, the frequency of resistance to TMP among fecal coliforms increased from less than 10% in 1970-1975 to 34% in 1980. This increase was not related to the duration of prophylaxis and appeared to represent a secular increase in TMP resistance among coliforms. TMP alone also was effective in urinary prophylaxis; only three of 39 children experienced a recurrence of urinary tract infection during a total of 309 months of prophylaxis in 1978-1980. The effect of TMP prophylaxis on the bowel flora was similar to that of TMP-SMZ prophylaxis. Resistance to TMP was found in 16% of isolates from rectal swabs from children receiving TMP alone.
Assuntos
Sulfametoxazol/uso terapêutico , Trimetoprima/uso terapêutico , Infecções Urinárias/prevenção & controle , Criança , Combinação de Medicamentos/efeitos adversos , Combinação de Medicamentos/uso terapêutico , Resistência Microbiana a Medicamentos , Fezes/microbiologia , Humanos , Recidiva , Sulfametoxazol/efeitos adversos , Trimetoprima/efeitos adversos , Combinação Trimetoprima e SulfametoxazolRESUMO
9 children presenting with an ampicillin-sensitive coliform urinary tract infection were treated with talampicillin using 1 week of full-dose treatment followed by low-dose prophylaxis. The bowel coliforms were ampicillin-resistant at the start in one girl and became resistant in the remaining 8 within 4 months. During a total of 44 months of talampicillin therapy, 6 girls (2 with vesico-ureteric reflux) developed a symptomatic re-infection of the urinary tract, a recurrence rate of 1 per 7.3 months, or 1.6 recurrences per annum. A further 12 girls were given prophylactic talampicillin, 9 after an initial therapeutic course of co-trimoxazole for 1 week and 3 following a period of prophylaxis with low-dose co-trimoxazole. The rectal swab from one girl showed partial ampicillin resistance but 9 of the remaining 11 showed that a predominance of ampicillin-resistance coliforms had emerged in the bowel flora within 4 months. 5 of the 12 also developed a symptomatic ampicillin-resistant urinary infection within 4 months, a recurrence rate of 1 per 7.1 months or 1.7 recurrences per annum. Talampicillin, though very effective in treating urinary infection, is not recommended for the prevention of subsequent recurrence.
Assuntos
Ampicilina/análogos & derivados , Talampicilina/uso terapêutico , Infecções Urinárias/tratamento farmacológico , Criança , Pré-Escolar , Combinação de Medicamentos/uso terapêutico , Feminino , Humanos , Lactente , Masculino , Recidiva , Sulfametoxazol/uso terapêutico , Trimetoprima/uso terapêutico , Combinação Trimetoprima e Sulfametoxazol , Infecções Urinárias/prevenção & controleRESUMO
Young red cells (YRBC) prepared on a cell washer were compared to whole blood in a randomized prospective trial in 48 transfusion dependent patients with thalassaemia major. A minor but statistically significant decrease in blood consumption was observed in the group receiving YRBC. However, no difference was seen in transfusion interval, mean haemoglobin and rate of haemoglobin fall between the two groups. Filtered blood was shown to be as effective as frozen blood in eliminating non-haemolytic febrile transfusion reactions in all the trial patients. We conclude that any reduction in the rate of iron loading brought about by the use of YRBC is clinically insignificant and does not justify the expense, time and work required to produce young red cells for use in a large transfusion dependent thalassaemic population.