g Factor of the

The gyromagnetic factor of the low-lying E=251.96(9) keV isomeric state of the nucleus ^{99}Zr was measured using the time-dependent perturbed angular distribution technique. This level is assigned a spin and parity of J^{π}=7/2^{+}, with a half-life of T_{1/2}=336(5) ns. The isomer was produced and spin aligned via the abrasion-fission of a ^{238}U primary beam at RIKEN RIBF. A magnetic moment |µ|=2.31(14)µ_{N} was deduced showing that this isomer is not single particle in nature. A comparison of the experimental values with interacting boson-fermion model IBFM-1 results shows that this state is strongly mixed with a main νd_{5/2} composition. Furthermore, it was found that monopole single-particle evolution changes significantly with the appearance of collective modes, likely due to type-II shell evolution.

Pediatric pain: prevalence, assessment, and management in a teaching hospital

The goal of this study was to examine the prevalence, assessment and management of pediatric pain in a public teaching hospital. The study sample consisted of 121 inpatients (70 infants, 36 children, and 15 adolescents), their families, 40 physicians, and 43 nurses. All participants were interviewed except infants and children who could not communicate due to their clinical status. The interview included open-ended questions concerning the inpatients’ pain symptoms during the 24 h preceding data collection, as well as pain assessment and pharmacological/non-pharmacological management of pain. The data were obtained from 100% of the eligible inpatients. Thirty-four children/adolescents (28%) answered the questionnaire and for the other 72% (unable to communicate), the family/health professional caregivers reported pain. Among these 34 persons, 20 children/adolescents reported pain, 68% of whom reported that they received pharmacological intervention for pain relief. Eighty-two family caregivers were available on the day of data collection. Of these, 40 family caregivers (49%) had observed their child’s pain response. In addition, 74% reported that the inpatients received pharmacological management. Physicians reported that only 38% of the inpatients exhibited pain signs, which were predominantly acute pain detected during clinical procedures. They reported that 66% of patients received pharmacological intervention. The nurses reported pain signs in 50% of the inpatients, which were detected during clinical procedures. The nurses reported that pain was managed in 78% of inpatients by using pharmacological and/or non-pharmacological interventions. The findings provide evidence of the high prevalence of pain in pediatric inpatients and the under-recognition of pain by health professionals.

Pediatric pain: prevalence, assessment, and management in a teaching hospital.

The goal of this study was to examine the prevalence, assessment and management of pediatric pain in a public teaching hospital. The study sample consisted of 121 inpatients (70 infants, 36 children, and 15 adolescents), their families, 40 physicians, and 43 nurses. All participants were interviewed except infants and children who could not communicate due to their clinical status. The interview included open-ended questions concerning the inpatients' pain symptoms during the 24 h preceding data collection, as well as pain assessment and pharmacological/non-pharmacological management of pain. The data were obtained from 100% of the eligible inpatients. Thirty-four children/adolescents (28%) answered the questionnaire and for the other 72% (unable to communicate), the family/health professional caregivers reported pain. Among these 34 persons, 20 children/adolescents reported pain, 68% of whom reported that they received pharmacological intervention for pain relief. Eighty-two family caregivers were available on the day of data collection. Of these, 40 family caregivers (49%) had observed their child's pain response. In addition, 74% reported that the inpatients received pharmacological management. Physicians reported that only 38% of the inpatients exhibited pain signs, which were predominantly acute pain detected during clinical procedures. They reported that 66% of patients received pharmacological intervention. The nurses reported pain signs in 50% of the inpatients, which were detected during clinical procedures. The nurses reported that pain was managed in 78% of inpatients by using pharmacological and/or non-pharmacological interventions. The findings provide evidence of the high prevalence of pain in pediatric inpatients and the under-recognition of pain by health professionals.

Detection of spinal muscular atrophy carriers in a sample of the Brazilian population.

BACKGROUND: Spinal muscular atrophy is a common autosomal recessive neuromuscular disorder caused by mutations in the SMN1 gene. Identification of spinal muscular atrophy carriers has important implications for individuals with a family history of the disorder and for genetic counseling. The aim of this study was to determine the frequency of carriers in a sample of the nonconsanguineous Brazilian population by denaturing high-performance liquid chromatography (DHPLC). METHODS: To validate the method, we initially determined the relative quantification of DHPLC in 28 affected patients (DHPLC values: 0.00) and 65 parents (DHPLC values: 0.49-0.69). Following quantification, we studied 150 unrelated nonconsanguineous healthy individuals from the general population. RESULTS: Four of the 150 healthy individuals tested (with no family history of a neuromuscular disorder) presented a DHPLC value in the range of heterozygous carriers (0.6-0.68). CONCLUSIONS: Based on these results, we estimated there is a carrier frequency of 2.7% in the nonconsanguineous Brazilian population, which is very similar to other areas of the world where consanguineous marriage is not common. This should be considered in the process of genetic counseling and risk calculations.

D-2-Hydroxyglutaric aciduria in a patient with a severe clinical phenotype and unusual MRI findings.

We report an infant with intermittent urinary excretion of D-2-hydroxyglutaric (D-2-OHG) acid who died at the age of 10 months from cardiogenic shock due to cardiomyopathy. High urinary concentrations of D-2-OHG and succinic acid, as well as increased levels of lactic acid were detected on three different occasions, whereas a normal urinary profile of organic acids was found on one occasion. The clinical findings of our patient consisted of generalized hypotonia, irritability, developmental delay, generalized tonic seizures, lethargy, cardiomyopathy, and respiratory distress. Cerebral MRI revealed bilateral lesions in the substantia nigra, the periaqueductal area, the medial part of the thalamus, the hypothalamus, the caudate nucleus, putamen and globus pallidus. This pattern is suggestive of a mitochondriopathy. However, respiratory chain enzyme activities were normal in fibroblasts. Exogenous supplementation of D-2-OHG acid strongly inhibited cytochrome-c oxidase activity in fibroblasts from the patient and from normal controls in vitro. The results suggest that our patient has an unusual form of D-2-hydroxyglutaric aciduria (D-2-OHGA), different from the patients published so far, and that the increase of lactic acid and some citric acid cycle intermediates encountered in some patients with D-2-OHGA may be due to a functional defect of the respiratory chain caused by D-2-OHG acid.

Focusing on dissociated motor development in Brazilian children.

Dissociated motor development (DMD) is considered when the baby starts independent walking late, with normality of the other fields of development. There is evidence that babies with DMD present an atypical crawling pattern and hypotonia. To investigate the frequency and characteristics of DMD, neurological examination was performed monthly in 177 healthy full-term babies from 6 months age, in urban and rural zone samples in Brazil. Among 20 children with atypical crawling, none presented hypotonia neither did they start independent walking late. The means of the ages at the beginning of atypical crawling and independent walking acquisitions, 7.40 mo (SD 1.4) and 12.76 mo (SD 2.5) respectively, did not differ from the group with crossed crawling pattern. Thus, in this sample of Brazilian healthy children we did not find cases with DMD.

[Organic aciduria: diagnosis in high-risk Brazilian patients] / Acidúrias orgânicas: diagnóstico em pacientes de alto risco no Brasil.

OBJECTIVE: To determine the prevalence of organic acidurias in high-risk Brazilian patients. METHODS: Laboratory techniques for the detection and quantification of organic acids by gas chromatography/mass spectrometry were implemented in Porto Alegre, Brazil. We investigated 1,480 patients suspected of organic aciduria between January 1994 and June 2000. RESULTS: Seventy three (4.9%) cases of organic acidemias (acidurias) were diagnosed among the tested individuals. In most of these patients, prompt therapy resulted in rapid symptom improvement; these results are completely different from our previous cases diagnosed in other laboratories in Europe and the United States, where several patients died before any measures could be taken. CONCLUSIONS: These results demonstrate the importance of diagnosing organic acidurias in loco even in developing countries, in spite of the extra costs involved.

[Hypoxic-ischemic encephalopathy in newborn infants. Acute period and outcome]. / Encefalopatia hipóxico-isquêmica em recém-nascidos a termo. Aspectos da fase aguda e evolução.

Ninety four neonates with hypoxic ischemic encephalopathy HIE attended at the University of Ribeirão Preto since 1982 were studied in terms of the neurological alterations during the acute phase and outcome over a mean period of 47 months. From 43 newborns with HIE I, 40 recovered within 96 hours and 3 died. Among 40 infants with HIE II, 37.5% recovered within the first week, and the others continued abnormal beyond the 7th day. All 11 infants with HIE III died before the second month of life. The HIE I group had no motor sequelae. Among the HIE II group, 34.5% showed cerebral palsy and 17.7% neuromotor retardation. 80.0% of those with sequelae persisted abnormal beyond 7th day of life, during the acute phase of the HIE. Epilepsy occurred in 17.5% of cases with HIE grade II, only among those with neuromotor sequelae. The IQ test did not show statistically significant difference between the HIE I, II without motor sequelae and the control groups. The authors reaffirm the value of the findings in the acute phase of HIE on the outcome of these patients.

Recurrent meningitis in a case of congenital anterior sacral meningocele and agenesis of sacral and coccygeal vertebrae.

A rare case of recurrent meningitis due to congenital anterior sacral meningocele and agenesis of the sacral and coccygeal vertebrae is described. An autosomal dominant inheritance is demonstrated for lower cord malformation, and environmental factors (chromic acid or fumes) are discussed.

Encefalopatia hipoxico-isquemica (EHI) perinatal: aspectos epidemiologicos / Hypoxic-ischemic encephalopathy (HIE) perinatal: epidemiological aspects

No periodo de 1982 a 1986 foram estudados os casos com Encefalopatia hipoxico-Isquemica nascidos no Hospital das Clinicas da Faculdade deMedicina de Ribeirao Preto. A incidencia geral da EHI foi de 4,69/1000, a mortalidade neonatal nos 3 graus, foi de 11,5% do total de casos com EHI. Dos casos que receberam alta 24,6% ja apresentaram alteracoes neurologicas e necessitavam deintervencao reabilitadora. Os autores chamam a atencao para a necessidade de continua vigilancia dos indices de EHI e mais ampla e eficiente assistencia perinatal para sua prevencao, alem de intervencao precoce nestes casos, visando minimizar suas consequencias .

[Infantile hydrocephalus: long-term results in 102 patients and the importance of neurosonography]. / Hidrocefalia infantil: resultados tardios em 102 pacientes e importância da neuro-sonografia.

A personal series (in 94% of the cases) of 102 children who underwent 170 procedures (1.66 procedures/patient) for hydrocephalus has been followed for 5 1/2 years (Jan-83 to June-88). Most of the children were under two years of age (80%) and in these cases brain sonography was the examination of choice for both diagnosis and follow-up (307 examinations, 4.4 per patient). Only occasionally was computed tomography necessary for better study in these cases. Our results suggest that there was no significant difference between our cases and those published in the literature concerning the number or procedures/patient (1.66)., infection rate (5.2%), mortality rate (6.8%) and intellectual performance. We recommend the use of brain sonography both in diagnosis and follow-up studies for hydrocephalic children since this examination is innocuous, inexpensive and easy to perform by neurosurgeons. Also it provides a good interaction between the examiner, the child and the parents, which is of utmost importance for the comprehension of the disease by the parents and early diagnosis of complications by the neurosurgeon.

[Meningoencephalitis due to Pasteurella multocida: clinico-laboratory study of a case in an infant]. / Meningencefalite por Pasteurella multocida: estudo clínico-laboratorial de um caso em lactente.

The authors report a case of Pasteurella multocida meningoencephalitis in a 5 week-old female infant, with special attention to clinical, laboratory and evolutive features. A moderate neurological sequel was observed at follow-up examinations. A brief review of the importance of P. multocida in human pathology is presented on the basis of the international literature, since the authors did not find any Brazilian reports. The most important feature on P. multocida is the prevalence of bacterial meningitis at the extremes of age. Otherwise, significant mistaken was found between Gram stained smears of body fluids for P. multocida and Haemophilus influenzae or Neisseria meningitidis. Because its role in infections following animal bite or scratch and its opportunistic feature, P. multocida must be included among the possible etiologic agent of bacteremia or sepsis in patients with liver cirrhosis or immunosuppression.

Meningencefalite por Pasteurella multocida: estudo clínico-laboratorial de um caso em lactente / Pasteurella multocida meningencephalitis: clinical and laboratory study of a case in a newborn infant

Os autores apresentam descriçäo clínico-laboratorial e evolutiva do caso de lactente com o diagnóstico de maningencefalite por Pasteurella multocida que apresentou na evoluçäo evoluçäo atraso neuromotor, manifestaçöes epilépticas, surdez neurossensorial e paresia crural a esquerda. Fazem também breve revisäo do papel deste agente etiológico na patologia humana. Ressaltam a importância da P. multocida em casos de meningites bacterianas, fazendo-se o diagnóstico laboratorial diferencial com o Haemophilus influenzae e Neisseria meningitidis em processos infecciosos conseqüentes a arranhadura ou mordida de animais e nas bacteremias ou septicemias em pacientes com hepatopatias crônicas ou em estados de imunodepressäo

[Apnea crisis with perinatal onset in infants]. / Crises de apnéia com início perinatal no lactente.

A case of neonatal apnea is reported. Clinical, laboratory, radiological and pathological findings are discussed. The failure of response to therapeutic procedures is suggestive of different cause than anoxia.

[Non-ketotic hyperglycinemia. Study of a case]. / Hiperglicinemia não cetótica. Estudo de um caso.

Non-ketotic hyperglycinemia is one of inborn metabolic errors that manifest by epileptic seizures of difficult control from the first days of life in hypotonic newborn children. The lack of enzyme that catalyzes the conversion of glycine to hydroxymethyltetrahydrofolic acid, carbon dioxide and ammonia, in liver and brain, results in increased concentration of glycine in blood. It is reported in this study a case of non-ketotic hyperglycinemia diagnosed in neonatal period and characterized by hypotonia and non-controlled multiple seizures. The clinical and electroencephalographic findings, treatment as well as anatomopathologic study are discussed.

[Leucinosis: study of a case]. / Leucinose: estudo de um caso.

Report of a case of Maple syrup urine disease in a female neonate, with diagnosis at 26th day of life. The neurological picture consisted of alternating periods of hyper with hypotonicity, seizures, lethargy, poor feeding and respiratory arrest. Demonstration of elevation of plasma branched-chain amino-acids, was the most widely available confirmatory test, and the therapy with MSUD resulted in improvement of the patient.