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Biomedical subjects

A García-Alix

Publications and source records attributed to A García-Alix.

At least 19 recordsLinked to original sources
PubMed2006

Cerebrospinal fluid leucocyte counts in healthy neonates.

OBJECTIVES: To determine the cerebrospinal fluid (CSF) white blood cell (WBC) count of normal term neonates, and compare the CSF WBC profile of normal and symptomatic infants without infection of the central nervous system (CNS). METHOD: Neonates were included if (a) they were at risk of congenital Toxoplasma infection and had undergone a lumbar puncture to assess CNS involvement, and (b) serial specific serum IgG and IgM determinations had ruled out congenital infection. According to neonatal chart reviews, 30 consecutive patients without CNS infection were classified as normal (absolutely asymptomatic) or symptomatic (any kind of symptoms). RESULTS: CSF WBC count was higher in 11 symptomatic (7/mm(3), 0-30/mm(3)) than in 19 normal (1/mm(3), 0-5/mm(3)) neonates (p<0.01). CONCLUSION: Normal neonatal CSF contains up to 5 WBCs/mm(3). Mild pleocytosis can be found in symptomatic infants without CNS infection.

Humans↗
PubMed2006

[Clinical guide to the management of patients with Beckwith-Wiedemann syndrome].

Beckwith-Wiedemann syndrome (BWS) is characterized by congenital overgrowth, macroglossia and omphalocele or umbilical hernia. Children with BWS may also have all or some of the following features: asymmetry (hemihypertrophy) of the limbs, torso or face, hypoglycemia, organomegaly, ear pits or creases, and embryonal tumors. The frequency of BWS is approximately 1:14,000 births. We present a guide for the management of children with BWS aimed at helping pediatricians and general practitioners or specialists in the clinical follow-up of these patients. This guide has been structured according to different age groups and is based on published evidence.

Adolescent↗
PubMed2005

Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndrome.

The 22q11.2 deletion syndrome is commonly diagnosed using fluorescence in situ hybridization (FISH) with commercial probes. The chromosomal breakpoints and deletion size are subsequently characterized by short tandem repeat (STR) segregation tests or by further FISH probes. Recently, a multiplex ligation-dependent probe amplification (MLPA) single tube assay was developed to detect deletions of the 22q11.2 region and other chromosomal regions associated with DiGeorge/velocardiofacial syndrome. We have compared the results of these three techniques in a group of 30 patients affected with 22q11.2 deletion syndrome. MLPA correctly called all patients who had been previously diagnosed by FISH. The MLPA results were concordant in all patients with the STR analysis in respect to deletion size. Furthermore, this novel technique resolved seven cases that were undetermined by STR analysis. These results confirm the efficiency of MLPA as a rapid, reliable, economical, high-throughput method for the diagnosis of 22q11.2 deletion syndrome.

Chromosome Deletion↗
PubMed2004

Neonatal spinal muscular atrophy with multiple contractures, bone fractures, respiratory insufficiency and 5q13 deletion.

We present the case of a floppy neonate with marked and generalized weakness, respiratory insufficiency and fetal akinesia deformation sequence. The infant showed multiple joint contractures, two bone fractures and needed mechanical ventilation from birth to death at 16 days of age. Electrophysiological assessment showed electrically unexcitable motor and sensory nerves. Muscle biopsy showed diffuse atrophy of type I and type II fibers. Necropsy confirmed the diagnosis of infantile spinal muscular atrophy (SMA) with severe loss of motor neurons in anterior horns and motor nuclei of brainstem. There were also neuronal loss, gliosis, chromatolysis, ballooned cells, empty cell beds and neuronophagia figures in other brainstem and brain nuclei. Genetic analysis of the patient revealed homozygous deletions of survival motor neuron gene 1 (SMN1) and a single copy of SMN2 in region 5q13. This case confirms that the loss of spinal motor neurons underlies the muscular atrophy in severe cases of 5q SMA. This case also shows that the presence of multiple joint contractures, bone fractures and respiratory insufficiency in SMA in the neonatal period does not necessarily exclude the occurrence of classical deletions in the SMA 5q13 region. Rather, these atypical clinical findings show the extreme severity and prenatal onset of the disease in these SMA cases, which may be related with the occurrence of a single copy of SMN2 gene. More reports of clinically, pathologically and genetically well-documented cases are essential to define the different types of this disease.

Chromosomes, Human, Pair 5↗
PubMed2001

Early sepsis, obstructive jaundice and right-sided diaphragmatic hernia in the newborn.

A male newborn was admitted to our Unit because of early sepsis and shock. He required antimicrobial therapy and mechanical ventilation and initially did well, although he exhibited jaundice and cholestasis. During the second week he deteriorated, with radiological opacification of the right hemithorax and pleural effusion, and did poorly in spite of antibiotical therapy and drainage of the effusion. In the third week, the X-ray suggested some bowel loops in the right hemithorax. A right-sided diaphragmatic hernia was confirmed by a CT-scan, and surgery was performed with good outcome. The association of delayed-onset right-sided CDH following early sepsis and obstructive jaundice has not been published before, and illustrates a scarcely known form of presentation of this condition.

Cholestasis↗
PubMed2000

Rehospitalization because of respiratory syncytial virus infection in premature infants younger than 33 weeks of gestation: a prospective study. IRIS Study Group.

OBJECTIVE: To collect data on hospitalization for respiratory syncytial virus (RSV) infections and presumptive risk factors for rehospitalization among premature infants in Spain. DESIGN: Observational, prospective, longitudinal, multicenter study. SETTING: Fourteen Spanish neonatal units with an annual birth cohort of 57,000 infants. PATIENTS: All children (n = 680) born < or =32 weeks of gestational age between April 1, 1998, and March 31, 1999, and discharged from the hospital before March 31, 1999, were included in the study. A total of 96 were excluded because of administration of prophylactic treatment (n = 55) or were lost to follow-up (n = 41). Five children died during the study period, but death was related to RSV in only 1 case. METHODS AND MAIN OUTCOME MEASURES: Neonatal and demographic data were recorded at the initial visit. Infants were prospectively followed at monthly intervals up to March 31, 1999. In patients rehospitalized for respiratory disorders, further data about RSV status and morbidity were collected. A comparison was made between children rehospitalized for RSV infection and those who were not. The influence of factors on the probability of rehospitalization for RSV infection was assessed by logistic regression analysis. RESULTS: Of the 584 evaluable patients 118 (20.2%) were rehospitalized for respiratory disease during the study period. The causative pathogen was identified in 89 (75.4%) hospital admissions. Of these 59 (66.3%) were a result of RSV infection in 53 children; 6 were reinfections. In a logistic regression model significant independent prognostic variables included: lower risk of RSV hospitalization with increase gestational age [odds ratio (OR), 0.85; 95% confidence interval (CI), 0.72 to 0.99; P < 0.047]; higher risk with chronic lung disease (OR = 3.1; 95% CI 1.22 to 7.91; P < 0.016); and living with school age siblings (OR = 1.86; 95% CI 1.01 to 3.4; P < 0.048). CONCLUSION: This large descriptive study has enabled us to define the influence of specific risk factors that increase the risk of rehospitalization for RSV infection in preterm infants. Such studies help to define the appropriate role of available prophylactic interventions and establish treatment guidelines.

Child, Preschool↗
PubMed1997

Effect of dexamethasone therapy on cerebral and ocular blood flow velocity in premature infants studied by colour Doppler flow imaging.

UNLABELLED: Although dexamethasone (DEX) is used widely in neonates with chronic, and even recently with acute respiratory disease, its potential side-effects on human cerebral and ocular haemodynamics remain unknown. The effects of DEX on cerebral and ocular blood flow velocities were assessed in preterm infants with lung disease and mechanical ventilation. Ten ventilated preterm infants received DEX (0.25 mg/kg/12 h) for ongoing chronic lung disease or extubation failure. Colour Doppler flow imaging studies of the internal carotid, anterior cerebral and ophthalmic arteries were made before and 10, 30, 60, 120 and 240 min after the 1st, 3rd, and 5th doses of DEX. Peak systolic, temporal mean, and end-diastolic flow velocities and the resistance index (RI) of Pourcelot were determined. The brain was examined by ultrasonography before and at the end of each Doppler study. All patients were continuously monitored for transcutaneous blood gases and blood pressure. All flow velocities and the RI of the internal carotid, anterior cerebral and ophthalmic arteries showed a similar trend throughout the study. The means of the values averaged for the 240 min of cerebral and ocular blood flow velocity with each dose were progressively higher and the values of the RI progressively lower up to the 5th dose. The most significant changes occurred in end-diastolic flow velocity and consisted of a percentage increase between the 1st and 5th dose of 72% in the internal carotid artery, 102% in the anterior cerebral artery and 84% in the ophthalmic artery. Changes in arterial blood pressure followed a pattern similar to that of changes in blood flow velocity. CONCLUSIONS: Dexamethasone increments cerebral and ocular blood flow velocity. We speculate that this finding may be relevant to the development of brain and retinal injury.

Analysis of Variance↗
PubMed1997

Interleukin-6 in the cerebrospinal fluid after perinatal asphyxia is related to early and late neurological manifestations.

OBJECTIVES: To investigate if the concentration of interleukin-6 (IL-6) in the cerebrospinal fluid (CSF) is affected by perinatal asphyxia, and to examine the relation of IL-6 levels in the CSF to the severity of hypoxic-ischemic encephalopathy (HIE), to brain damage, and to the neurological outcome. METHODS: Asphyxiated term neonates were included. Cerebrospinal fluid IL-6 was measured by a sensitive enzyme-linked immunosorbent assay. RESULTS: Twenty neonates were studied: 3 had no HIE, 5 had stage 1, 6 had stage 2, and 6 had stage 3. CSF IL-6 levels (8 to 90 hours of life) were higher in neonates with HIE stage 3 (range, 65 to 2250 pg/mL) when compared with neonates with HIE stage 0 to 2 (<2 pg/mL in 12 neonates, 10 pg/mL in 1). According to neuroimaging techniques and/or pathological examination, 14 neonates were normal, and 5 showed signs of brain damage; 1 was not classified. CSF IL-6 levels were significantly higher in neonates with signs of brain damage. Finally, 5 neonates had adverse outcomes (4 died, 1 had cerebral palsy), 2 had mild motor impairment, and 13 had normal outcomes. CSF IL-6 levels were higher in neonates with adverse outcomes (range, 65 to 2250 pg/mL) compared with neonates with favorable outcomes. CONCLUSION: The magnitude of IL-6 response in the CSF after perinatal asphyxia is related to the severity of neonatal HIE, to brain damage, and to the neurological outcome. Our results suggest that IL-6 might play a role in neonatal hypoxic-ischemic brain damage.

Asphyxia Neonatorum↗
PubMed1995

Multiple organ involvement in perinatal asphyxia.

OBJECTIVES: (1) To evaluate the frequency and spectrum of severity of multisystem dysfunction after perinatal asphyxia and (2) to analyze the relationship between the clinical and biochemical markers of perinatal asphyxia and multiorgan involvement. STUDY DESIGN: Seventy-two consecutive term newborn infants with perinatal asphyxia were studied prospectively. Systematic neurologic, renal, pulmonary, cardiac, and gastrointestinal evaluations were performed. Involvement of each organ was classified as moderate or severe. RESULTS: Involvement of one or more organs occurred in 82% of the infants; the central nervous system (CNS) was most frequently involved (72%). Severe CNS injury (7 infants) always occurred with involvement of other organs, although moderate CNS involvement was isolated in 14 infants. Renal involvement occurred in 42%, pulmonary in 26%, cardiac in 29%, and gastrointestinal in 29% of the infants; 15% neonates had renal failure and 19% had respiratory failure. The Apgar scores at 1 and 5 minutes were the only perinatal factors related to the number of organs involved and the severity of involvement; the Apgar score at 5 minutes had the stronger independent association. No relationship or organ dysfunction was found with the umbilical cord arterial blood pH, meconium-stained amniotic fluid, umbilical cord abnormalities, presentation, or type of delivery. CONCLUSIONS: Our findings indicate that the Apgar score at 5 minutes, in infants who have other criteria for asphyxia, is the perinatal marker that may best identify infants at risk of organ dysfunction.

Apgar Score↗
PubMed1995

Neural migration disorders studied by cerebral ultrasound and colour Doppler flow imaging.

Cerebral ultrasound and colour Doppler flow imaging (CDFI) were used to diagnose a wide spectrum of anomalies of cell migration (17 patients): presumed lissencephaly (n = 12); schizencephaly of both fused (n = 2) and open lips (n = 2); hemimegalencephaly (n = 1); and subependymal type grey matter heterotopia (n = 12). The patients with grey matter heterotopia had irregular ventricular margins (n = 10), periventricular hyperechogenic bands (n = 12), and/or periventricular hyperechogenic nodules (n = 7). Some patients had more than one type of migration disorder as well as other central nervous system malformations. Cerebral ultrasound diagnoses were confirmed by magnetic resonance imaging (MRI) or necropsy. It is concluded that colour Doppler flow imaging is a worthwhile addition to the assessment of brain surface anomalies.

Autopsy↗
PubMed1995

Cerebrospinal fluid beta 2-microglobulin in neonates with central nervous system infections.

Beta 2-microglobulin (beta 2m) determination in CSF of 72 neonates who underwent a spinal tap as part of a sepsis or meningo-encephalitis workup was performed to evaluate the usefulness of this test in the diagnosis of CNS infections. Beta 2m was measured by enzyme immunoassay. Sixty neonates had sterile culture and normal neurological status at discharge. Twelve infants had CNS infections: 8 bacterial meningitis, 3 TORCH infections (T = toxoplasmosis, O = others, R = rubella, C = cytomegalovirus and H = herpes simplex) and 1 viral meningitis. Neonates with CNS infection exhibited significantly higher CSF beta 2m levels compared to neonates with sterile culture (6.24 +/- 2.66 vs 1.74 +/- 0.5 mg/l; P < 0.0001). CSF beta 2m levels did not correlate with the white cell count, total protein concentration or glucose level in CSF. When serum and CSF levels were measured simultaneously, the CSF beta 2m level was significantly higher than the corresponding serum level in patients with CNS infection (6.98 +/- 2.5 vs 3.2 +/- 0.25 mg/l; P < 0.01). Sensitivity, specificity, and predictive values were estimated for different cut-off points. The best operational diagnostic cut-off value was 2.25 mg/l. Receiver operating characteristic curve analysis showed an appropriate trade-off between specificity and sensitivity and indicated that CSF beta 2m was accurate in distinguishing between neonates with and without CNS infection. Conclusion. CSF beta 2m may be a useful ancillary tool in neonates when CNS infection is suspected.

Female↗
PubMed1994

New pattern of hyperechogenicity in thalamus and basal ganglia studied by color Doppler flow imaging.

Thirty-seven infants whose cerebral real-time B-mode ultrasound (CUS) documented hyperechogenic areas in the thalamus and basal ganglia (HTBG) either of linear or fine punctate pattern, were studied prospectively by color Doppler imaging (CDI). This study aimed to establish a relationship between these areas and the regional vasculature, to analyze associated disorders to establish pathogenesis, and to determine clinical significance. HTBG were diagnosed in the first 4 days of life in all but 7 infants. Different patterns of HTBG were observed: punctate in 11 infants, linear in 12, and mixed in 14. The basal ganglia were affected in all patients, 9 also had involvement of the thalamus. CDI confirmed that HTBG were allocated along the gangliothalamic vessels. Blood flow velocity waves were obtained at this level in all patients. Real-time spectral analyses were performed in 35 patients and compared with a control group of 20 healthy neonates. Differences were not significant. Computed tomography and magnetic resonance imaging failed to indicate this abnormality. Necropsy revealed basophilic deposits in the walls of involved arteries. Congenital infections manifested in 5 patients, chromosomal abnormality in 1, dysmorphic syndromes in 9 (3 unidentified), isolated congenital defects in 5, and diverse congenital disorders in 3. In the remaining 14, no congenital disorders nor infections were found. This CDI study demonstrates the vascular location of these HTBG. Supported by early CUS diagnosis, it is speculated that vascular injury in that region has a prenatal origin. This abnormality does not appear to alter regional blood flow. HTBG are associated with very heterogeneous disorders and in most patients the etiology and pathogenesis remain unclear.

Arteries↗
PubMed1992

Early neurological manifestations and brain anomalies in Marden-Walker syndrome.

We report on an infant with the Marden-Walker syndrome. In addition to the consistent neurological abnormalities described previously in this syndrome, the infant had a striking neurological constellation, absence of primitive reflexes, jerky eye movements, failure to habituate to repeated stimuli, inadequate behavior development, and absence of orientation responses to visual or auditory stimuli. Muscle biopsy showed a similar pattern to the congenital fiber-type disproportion. Ultrasonograms and magnetic resonance imaging of his brain demonstrated absence of corpus callosum, colpocephaly, hypoplastic brainstem, hypoplasia of the inferior vermis and of the cerebellar hemispheres. These findings further delineate this syndrome and suggest that prenatal central nervous system (CNS) dysfunction, mainly of the cerebellum and brainstem, may play a significant role in the pathogenesis of the Marden-Walker syndrome.

Abnormalities, Multiple↗
PubMed1992

Stroke in neonates with cardiac right-to-left shunt.

Neonatal focal cerebral arterial infarction has been rarely reported in the literature, in contrast to the watershed infarctions, which are common entities among asphyxiated infants. In neonatal postmortem series, thromboembolism was the commonest cause of cerebral arterial occlusion; the source of emboli was associated to different risk factors. Our four cases are the first alive patients reported with congenital heart disease and right-to-left shunt, who suffered a cerebral infarct with its clinical neurological correlates in the neonatal period. We assume that the most probable mechanism was paradoxical embolism, once pulmonary filter is obviated as a result of the altered hemodynamics in these patients. Our data demonstrate the value of ultrasound scanning for assessment of focal cerebral ischemic lesions. Thus, although abnormal neurological signs in this particular group of infants could be attributed to hypoxemia or specific treatments as prostaglandins, we suggest routine cerebral ultrasounds in neonates with congenital heart disease and neurological disabilities, as early complications could be not so infrequent.

Cerebrovascular Disorders↗