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V Rebage Moisés

Publications and source records attributed to V Rebage Moisés.

At least 19 recordsLinked to original sources
PubMed2004

[Cleft palate and cleft lip. Clinical review].

UNLABELLED: The aim of this study is to do an analytical study of cleft palate and cleft lip in our hospital. PATIENTS AND METHODS: 85 clinical charts of patients attended in our hospital born between 1976 and 2001 in Aragon and Rioja were reviewed. We studied the incidence of oral cleft, associated malformations and morbidity, familial antecedents and perinatal data, phonatory disfunctions, serose otitis, growth failure and psychiatry problems. RESULTS: The mean incidence was 0.5/1000 newborns. 41.5% presented associated malformations and 19.3% were associated with a specific syndrome, being more frequent in patients affected of cleft palate and cleft lip (50%) than patients with only cleft palate (41.2%) or only cleft lip (8.8%). The most frequent malformations were: facial defects (50%), skeletal (33%), congenital cardiopathies (33%). 19% were born prematurely. The percentage of serose otitis that required control at hospital was 37.3%. 34.2% presented phonatory problems. There was a high incidence of growth failure and psychiatry problems. CONCLUSION: Oral clefts represent a complex clinical condition with a high percentage of medical complications that require a multidisciplinary treatment. The high incidence of congenital defects associated with this condition demand an exhaustive screening in the newborns affected.

Abnormalities, Multiple↗
PubMed2003

[Serum selenium levels in neonates].

BACKGROUND: Despite their increasing importance in children's nutrition, studies on selenium levels in neonates in Spain are scarce and often contradictory. OBJECTIVES: To establish the standard serum levels of selenium in healthy full term neonates in our area and to contribute knowledge of the perinatal factors that influence these levels. METHODS: We determined selenium levels in serum by atomic absorption spectrophotometry in 247 neonates: 70 healthy full term neonates, 60 sick full term neonates, 18 neonates with intrauterine growth retardation (> 37 weeks; birthweight < 2500 g), 44 healthy preterm neonates and 55 sick preterm neonates. RESULTS: Healthy full term newborns showed higher serum selenium levels than healthy preterm neonates (35.11 6.94 g/l, range: 18.4-48 g/l versus 28.65 5.95 g/l, range: 15-44.4 g/l, p < 0.001). In the group with intrauterine growth retardation, serum selenium levels were higher than in the healthy preterm group (30.80 6.97 g/l, range: 20-45.6 g/l versus 28.65 5.95 g /L, range: 15-44.4 g/l) but lower than in the full term and normal birthweight group (idem versus 35.11 6.94 g/l, range 18.4-48 g/l). Likewise, the low birthweight group (< 2500 g) showed lower mean serum selenium levels than the normal birthweight group (27.98 6.75 g/l, range 15-48 g/l versus 33.09 7.52 g/l, range 14.4-48 g/l; p < 0.001). CONCLUSIONS: Prematurity and low birthweight are the best predictors for risk of neonatal hyposeleniemia.

Humans↗
PubMed2003

[Interleukin-6 and tumor necrosis factor-alpha as markers of vertically-transmitted neonatal bacterial infection].

INTRODUCTION: Neonatal infection is a major cause of morbidity in the neonatal period. Several parameters have been used to assess neonatal sepsis. C-reactive protein (CRP) shows high specificity for bacterial infections, but an increase in CRP is often not detected until 12 to 24 hours after onset of the infection. OBJECTIVE: To evaluate the usefulness of interleukin-6 (IL-6) and tumor necrosis factor-alpha (TNF-alpha) in the early diagnosis of vertically-transmitted neonatal bacterial infection. METHODS: Thirty-four newborns admitted to the neonatal intensive care unit with an initial diagnosis of respiratory distress were included. Twelve newborns presented the criteria for clinical sepsis or pneumonia (group I) and six had positive blood culture. The remaining patients did not present the clinical criteria for infection (group II). IL-6, TNF-alpha, CRP levels and the ratio between immature and mature neutrophil count were assessed at 8.8 +/- 7.3 hours of life. In 17 patients the same parameters were assessed at 67.4 +/- 24.8 hours of life. The statistical analysis was performed using the Mann-Whitney test. The sensitivity and specificity of these markers were assessed. RESULTS: No differences were found in the perinatal features of either group. Analysis of markers of infection revealed the following significant differences: ratio between immature and mature neutrophil count: (0.25 +/- 0.21 vs 0.12 +/- 0.09; p=0.048), CRP first determination (1.4 +/- 0.8 mg/dL vs 1 +/- 0.5 mg/dL; p=0.036), CRP second determination: (3.8 +/- 1.8 mg/dL vs 1.4 +/- 1.1 mg/dL; p=0.008), IL-6 first determination: (582.2 +/- 810.5 pg/mL vs 31.3 +/- 24.2 pg/mL; p=0.000). Sensitivity/specificity (%): ratio between immature and mature neutrophil count: 41.6/83.6; CRP first determination: 16.6/90.9; CRP second determination: 83.3/87.5; IL-6 (optimum cut-off value: 55 pg/mL): 100/72.7, and TNF-alpha: 16.6/85. CONCLUSIONS: IL-6 determination in the first hours of life is a more sensitive early marker of neonatal infection than other classical markers because of its early elevation. Like CRP, early TNF-alpha determination has high specificity but low sensitivity.

Biomarkers↗
PubMed2000

[Oxidative phosphorylation defects with neonatal presentation: review of our caseload].

OBJECTIVES: To define the oxidative phosporilation deficit syndrome in the neonatal in terms of incidence and clinical, biochemical and genetic features. MATERIAL AND METHODS: We report 9 newborns diagnosed as oxidatic phosporilation deficit during the last 8 years in our hospital by means of clinical, metabolic, pathological and molecular studies, among other evaluations. The diagnosis was established based on ensymatic deficit of the respiratory chain, associated with alterations in the mtDNA in one case, and with mitochondrial ultrastructural anomalies in 5 cases. RESULTS: There was an incidence of 1/3.555 newborns and 1/832 newborns admitted in our Neonatal Unit. In four of them there were familial antecedents and polihidramnios in two. Most of them, 8 out of 9, were born at term after a normal pregnancy and delivery, with normal Apgar score and auxological examination. Symptomatology started immediately at the neonatal period as acute neurological damage in most of them. There was a severe evolution as 5 children died and 4 survived with severe damage. All of them had the classical phenotype of early severe encefalopathy, associated with dismorphic features, hypotomía, neurosensorial defects, brain dysgenesis and atrophy, anomalies in the EEG and in 5 of them there were also systemic anomalies, mainly cardiopathy. The most frequent biochemical alteration was a significative increment of the quotient lactate/piruvate. Five patients presented ultrastructural alterations of the mitochondria in thr muscle biopsy but Cox stain was not positive in any case. Three cases has a deficit of the complex IV, e of the complex I-IV, 2 of the complex I and one the complex I-III-IV. Only one patient had multiple deletions in the mtDNA. CONCLUSIONS: Oxidatic phosporilation deficit are frequent and severe diseases of prenatal onset with limited fetal effects, homogeneous clinical phenotype with frequent damage of the central nervous system and variable extraneurological alteration and inconsistent biochemical pattern. Enzymatic studies ar need for making the diagnosis in all suspected cases,

Female↗
PubMed2000

[Severe neonatal mitochondrial cytopathy caused by isolated COX defect].

We report a neonate with isolated cytochrome c oxidase (COX) defect and severe multisystemic involvement. The patient had severe encephalopathy, predominant since birth, and died due to hypoxic-ischemic myocardiopathy. He was the second son of non-consanguineous, healthy parents who also had a daughter with chronic encephalopathy. The neonate presented dysmorphic phenotype, hepatic and muscular involvement, and possibly tubular involvement. Metabolic studies revealed markedly increased lactic/pyruvic concentrations. Diagnosis was based on muscular enzymatic studies and ultrastructural mitochondrial anomalies, while the mitochondrial DNA and results of the COX technique were normal. Histological examination revealed a massive subendocardial infarction. Aspects of this entity with relevance for genetic counseling are discussed.

Cytochrome-c Oxidase Deficiency↗
PubMed2000

[Megabladder-microcolon-intestinal hypoperistalsis syndrome].

Megacystis-microcolon-intestinal hypoperistalsis is a rare congenital disorder characterized by urinary bladder distention and hypoperistalsis throughout the entire gastrointestinal tract. We present a new case with the typical clinical and radiological findings of the syndrome. This diagnosis should be suspected in patients who present with intestinal obstruction and urine retention and should be confirmed with imaging techniques, including abdominal plain films and urinary ultrasonography. Histological findings are non-specific; we found thinning of the intestinal muscle layer and connective tissue proliferation. The prognosis is generally very poor. Our patient died from sepsis at the age of 25 days.

Colon↗
PubMed1986

[Isolated congenital aplasia of the anterior hypophysis and neonatal hypoglycemia. Report of a case with review of the literature].

We describe a female newborn infant who became severely hypoglycaemic (0.73 mg %), cyanosed and collapsed at five hours of age. After this episode she developed new hypoglycaemia and convulsions and did not tolerate short fasting periods. Physical examination revealed macrocephalia (PC 36 cm), prominent frontal bone and flat face. Hormonal tests showed normal insulines, a relative secondary hypothyroidism and GH, ACTH and cortisol deficiencies (GH, 0.15 and 11 ng/ml; cortisol, 3.5 and 2 mg %). The baby died at the age of 3 months after pulmonary aspiration. The findings at necropsy showed a normally developed brain and flat sella turcica with fragments of neurohypophysis without evidence of adenohypophysis and adrenals and thyroid markedly hypoplastic. Diagnosis of this entity as well as cases reported in pediatric literature are reviewed.

Female↗