Single nucleotide polymorphism discovery in albacore and Atlantic bluefin tuna provides insights into worldwide population structure.

The optimal management of the commercially important, but mostly over-exploited, pelagic tunas, albacore (Thunnus alalunga Bonn., 1788) and Atlantic bluefin tuna (BFT; Thunnus thynnus L., 1758), requires a better understanding of population structure than has been provided by previous molecular methods. Despite numerous studies of both species, their population structures remain controversial. This study reports the development of single nucleotide polymorphisms (SNPs) in albacore and BFT and the application of these SNPs to survey genetic variability across the geographic ranges of these tunas. A total of 616 SNPs were discovered in 35 albacore tuna by comparing sequences of 54 nuclear DNA fragments. A panel of 53 SNPs yielded FST values ranging from 0.0 to 0.050 between samples after genotyping 460 albacore collected throughout the distribution of this species. No significant heterogeneity was detected within oceans, but between-ocean comparisons (Atlantic, Pacific and Indian oceans along with Mediterranean Sea) were significant. Additionally, a 17-SNP panel was developed in Atlantic BFT by cross-species amplification in 107 fish. This limited number of SNPs discriminated between samples from the two major spawning areas of Atlantic BFT (FST  = 0.116). The SNP markers developed in this study can be used to genotype large numbers of fish without the need for standardizing alleles among laboratories.

Effects of a 10-year conservation programme on the genetic diversity of the Pottoka pony--new clues regarding their origin.

Here, we present the results of a genetic analysis of 463 Pottoka ponies corresponding to four generations, using 17 microsatellite markers. Ten years after the beginning of the Pottoka conservation programme, the values for the genetic diversity of the breed are still high and stable, indicating the success of the programme. We found null alleles in Pottoka for the ASB23, HMS3 and HTG10 microsatellites. Together with information obtained from other pony breeds from the Iberian Peninsula, this finding indicates that these microsatellites should not be used for phylogenetic analyses or parentage tests, at least for these breeds. The high heterozygosity exhibited by this breed in comparison to other ponies, together with its genetic proximity to the centroid of the allele frequencies, suggest that Pottoka allele frequencies are close to those initially exhibited by the ancestors of current European ponies. The results obtained in the current work, together with results from previous studies of ponies and horses from the Iberian Peninsula, corroborate the idea of a unique origin of all ponies from the European Atlantic Area. In contrast, our results do not corroborate the idea that these are derived from a domestication event in the Iberian Peninsula, nor that they have incorporated ancient Iberian horse genes into their genetic pool to a larger extent than other horse breeds.

[Neurological dysfunction induced by bilirrubin]. / Disfunción neurológica inducida por bilirrubina.

INTRODUCTION: "Kernicterus" is a term currently used to describe bilirrubin induced brain injury in the neuro-pathological studies. This is a confusing term and nowadays we prefer bilirrubin encephalopathy or bilirrubin induced neurological dysfunction. The clinical signs vary and it is clearly decreasing in prevalence in developed countries. MATERIAL AND METHODS: We review a series of 7 patients with bilirrubin encephalopathy and variable neurological manifestations, who were seen in the Neuropaediatric Department in the last 10 years. Only one patient died in the neonatal period with hyperbilirubinaemia, sepsis and multi-organ failure. RESULTS: Diverse aetiological factors were related to hyperbilirubinaemia. All patients had clinical symptoms due to hyperbilirubinaemia. Neuroimaging during the neonatal period showed involvement of the nucleus pallidus, with hyperintensity in T1 in the brain MR scan as the most consistent finding. All the patients who survived developed neurological signs and we try to correlate them with biochemical, clinical, neuroimaging and neurophysiological parameters. CONCLUSIONS: An increase in the number of patients with bilirrubin encephalopathy has been observed over the last few years, and we attempt to find out the causes. The increased survival of the low birth weight newborns, the increase in the immigration population and the use of diagnostic neuroimaging contribute to this increase. It is a great challenge for the neonatologist and for neuropaediatricians to prevent its occurrence and to minimise the effects of bilirrubin encephalopathy.

Genetic variation of toll-like receptor genes and infection by Mycobacterium avium ssp. paratuberculosis in Holstein-Friesian cattle.

Toll-like receptors (TLR) are membrane proteins that play a key role in innate immunity, by recognizing pathogens and subsequently activating appropriate responses. Mutations in TLR genes are associated with susceptibility to inflammatory and infectious diseases in humans. In cattle, 3 members of the TLR family, TLR1, TLR2, and TLR4, are associated with Mycobacterium avium ssp. paratuberculosis infection, although the extent of this association for the TLR1 and TLR4 receptors has not yet been determined. Moreover, the causal variant in the TLR2 gene has not yet been unequivocally established. In this study, 24 single nucleotide polymorphisms (SNP) in the bovine TLR1, TLR2, and TLR4 genes were selected from the literature, databases, and in silico searches, for a population-based genetic association study of a Spanish Holstein-Friesian sample. Whereas previous results regarding the TLR1 gene were not corroborated, a risk haplotype was detected in TLR2; however, its low frequency indicates that this detected association should be interpreted with caution. In the case of the TLR4 gene, 3 tightly linked SNP were found to be associated with susceptibility to M. avium ssp. paratuberculosis infection. Moreover, one of these SNP, the SNP c.-226G>C, which is localized in the 5'UTR region of the TLR4 gene, has been reported to be able to alter TLR4 expression, raising the possibility that this mutation may contribute to the response of the individual to infection.

Genetic association between bovine NOD2 polymorphisms and infection by Mycobacterium avium subsp. paratuberculosis in Holstein-Friesian cattle.

Nucleotide-Binding Oligomerization Domain 2 (NOD2) has been reported to be a candidate gene for Mycobacterium avium subsp. paratuberculosis (MAP) infection in a Bos taurus × Bos indicus mixed breed based on a genetic association with the c.2197T>C single nucleotide polymorphism (SNP). Nevertheless, this SNP has also been reported to be monomorphic in the B. taurus species. In the present work, 18 SNPs spanning the bovine NOD2 gene have been analysed in a genetic association study of two independent populations of Holstein-Friesian cattle. We found that the C allele of SNP c.*1908C>T, located in the 3'-UTR region of the gene, is significantly more frequent in infected animals than in healthy ones, which supports the idea that the bovine NOD2 gene plays a role in susceptibility to MAP infection. However, in silico analyses of the NOD2 nucleotide sequence did not yield definitive data about a possible direct effect of SNP c.*1908C>T on susceptibility to infection and led us to consider its linkage disequilibrium with the causative variant. A more exhaustive genetic association study including all putative, functional SNPs from this gene and subsequent functional analyses needs to be conducted to achieve a more complete understanding of how different variants of NOD2 may affect susceptibility to MAP infection in cattle.

SP110 as a novel susceptibility gene for Mycobacterium avium subspecies paratuberculosis infection in cattle.

The intracellular pathogen resistance 1 (Ipr1) gene has been reported to play a role in mediating innate immunity in a mouse model of Mycobacterium tuberculosis infection, and polymorphisms of its human ortholog, SP110 nuclear body protein, have been suggested to be associated with tuberculosis. Thus, the bovine SP110 gene was considered to be a promising candidate for a genetic association study of bovine paratuberculosis, or Johne's disease, a chronic granulomatous enteritis caused by Mycobacterium avium ssp. paratuberculosis (MAP). Initially, single nucleotide polymorphisms (SNP) within the bovine SP110 gene were identified, and subsequently a population-based genetic association study was carried out. Seventeen new SNP along the SP110 gene were identified in Holstein-Friesian cattle, and 6 more were compiled from public databases. A total of 14 SNP were included in the association study of 2 independent populations. The SNP c.587A>G was found to be significantly associated with MAP infection, with the major allele A appearing to confer greater disease susceptibility in one of the analyzed populations. In addition, 2 haplotypes containing this SNP were also found to be associated with infection in the same population. The SNP c.587A>G is a nonsynonymous mutation that causes an amino acid change in codon 196 from asparagine to serine. In silico analyses point to SNP c.587A>G as a putative causal variant for susceptibility to MAP infection. The elucidation of the precise mechanism by which this SNP can exert its effect in the protein and, as a result, in the risk of infection, requires future functional analyses. Likewise, the absence of genetic association in one of the analyzed populations renders it necessary to carry out this study in other independent populations, with the aim of substantiating the repeatability of the present results. Nevertheless, the present results deepen our understanding of the genetic basis of susceptibility and resistance mechanisms related to MAP infection in cattle and, in turn, constitute a step forward toward the implementation of marker-assisted selection in breeding programs aimed at controlling paratuberculosis.

Identification of single nucleotide polymorphisms in the bovine solute carrier family 11 member 1 (SLC11A1) gene and their association with infection by Mycobacterium avium subspecies paratuberculosis.

Johne's disease is a chronic enteritis caused by Mycobacterium avium ssp. paratuberculosis (MAP) that causes substantial financial losses for the cattle industry. Susceptibility to MAP infection is reported to be determined in part by genetic factors, so marker-assisted selection could help to obtain bovine populations that are increasingly resistant to MAP infection. Solute carrier family 11 member 1 (SLC11A1) was adjudged to be a potential candidate gene because of its role in innate immunity, its involvement in susceptibility to numerous intracellular infections, and its previous association with bovine MAP infection. The objectives of this study were to carry out an exhaustive process of discovery and compilation of polymorphisms in SLC11A1 gene, and to perform a population-based genetic association study to test its implication in susceptibility to MAP infection in cattle. In all, 57 single nucleotide polymorphisms (SNP) were detected, 25 of which are newly described in Bos taurus. Twenty-four SNP and two 3'-untranslated region polymorphisms, previously analyzed, were selected for a subsequent association study in 558 European Holstein-Friesian animals. The SNP c.1067C>G and c.1157-91A>T and a haplotype formed by these 2 SNP yielded significant association with susceptibility to MAP infection. The c.1067C>G is a nonsynonymous SNP that causes an amino acid change in codon 356 from proline to alanine (P356A) that could alter SLC11A1 protein function. This association study supports the involvement of SLC11A1 gene in susceptibility to MAP infection in cattle. Our results suggest that SNP c.1067C>G may be a potential causal variant, although functional studies are needed to assure this point.

A survey of neonatal resuscitation in Spain: gaps between guidelines and practice.

OBJECTIVES: To audit the knowledge and application of internationally recommended newborn resuscitation (NR) guidelines among delivery room (DR) caregivers of Spanish hospitals. METHODS: A questionnaire-type survey on NR equipment and practices was performed in hospitals of the Spanish National Health System classified according to level of care provided. RESULTS: 88% of the questionnaires were complimented. Limit of viability was set in 23-24 weeks in 78% of the centres. Availability of board-certified and instructors in NR was significantly higher in level III versus level I-II centres (94 vs. 70% and 78 vs. 51%, respectively). No differences in equipment or knowledge of guidelines of resuscitation were found between centres. Substantial differences were observed in supplementation and monitorization of oxygen, and positive pressure ventilation during resuscitation and transportation. CONCLUSION: Equipment availability and knowledge of guidelines of NR does not differ between hospitals independent of their level of care. However, performance during resuscitation and transportation in level III hospitals is in significantly greater acquaintance with internationally recommended NR guidelines.

[Algorithm for an etiological classification of prematurity]. / Algoritmo para la asignación etiológica de la prematuridad.

UNLABELLED: The etiology of preterm birth is difficult to classify. It is usually divided into three clinical types according to its clinical presentation: medically indicated; caused by ruptured membranes; and spontaneous or idiopathic. However, this classification is controversial, imprecise and can result in multiple interpretations when applied. OBJECTIVE: To design an etiologically based classification of preterm birth, and to design a system to easily assign each case during the perinatal period. METHODS: Review of literature, qualitative analysis using consensus methods through nominal group technique, and quantitative analysis of a pilot study using a first version of the algorithm. RESULTS: A classification is made to establish a general division between the "primary cause" and "associated causes" of preterm birth, that allows remote causes or risk factors to be included. The primary cause includes seven categories: inflammatory (ruptured membranes and related); vascular (intrauterine growth restriction and related); maternal-local; maternal-systemic; fetal pathology; fetal distress; idiopathic. The medically indicated preterm birth is defined as a previous or independent category and so is compatible with the other, previously mentioned causes . An algorithm was designed to make it easier to classify the primary cause of preterm birth using a flowchart. CONCLUSIONS: A pragmatic classification of preterm birth is proposed that may help to achieve better precision and agreement between clinicians.

[ECMO: experience in paediatrics]. / ECMO: experiencia en edad pediátrica.

INTRODUCTION: ECMO (Extracorporeal Membrane Oxygenation) provides a vital support to patients with supposed reversible respiratory and/or cardiac failure, in whom conventional support techniques have been previously unsuccessful. OBJECTIVES: To determinate the criteria used in our hospital to put paediatric patients on ECMO, compare their clinical course depending on their pathology (respiratory failure, congenital heart disease or sepsis) and identify the sequelae attributable to this technique. MATERIAL AND METHOD: A retrospective review of clinical records of all patients on ECMO support in our centre, excluding those presenting typically in neonatal period. RESULTS: ECMO was used on 16 patients from June 2001 to January 2007, of which 50% were males. The median age was 7 months (from 21 days to 11 years). The reason for starting ECMO was respiratory failure in 11 cases (oxygenation index >40 and/or alveolar-arterial oxygen gradient >605), congenital heart disease in 2 and sepsis in 3 (due to shock unresponsive to adequate resuscitation). The median time to starting ECMO from PICU admission was 3.58 days (from 12h to 9 days). Venovenous cannulation was used initially in 8 patients, but 5 of them needed venoarterial ECMO later. The technique was used for a mean of 8 days (from 1 to 28 days). The main complication was the isolation of bacteria in different cultures (8 patients). The overall survival was 50% (6 patients with respiratory failure and both patients submitted to cardiac surgery). Extracorporeal support was withdrawn in 7 children because their clinical situation was irreversible. Another patient died seven days after successful decannulation. We have not found any serious sequel among survivors that could be attributable to this technique. CONCLUSIONS: Survival among children supported with ECMO in our hospital is similar to that recorded by the ELSO in 2004, although the prognosis depends on the initial pathology. There are different criteria for starting this technique depending on the underlying diseases: respiratory index of poor prognosis in patients with respiratory failure, haemodynamic instability in those with sepsis or cardiac failure after cardiovascular surgery. We have not found any serious sequel among the survivors which could be attributable to this technique.

[Comparative study of the clinical presentation and complications of acute colonic diverticulitis in patients older and younger than 65 years.]. / Estudio comparativo de la presentación clínica y complicaciones de la diverticulitis aguda colónicaen pacientes mayores y menores de 65 años.

BACKGROUND AND AIM: Colonic diverticular disease has an incidence from 66 to 85% in population older than 65 years. Most of them remain asymptomatic;20% will be symptomatic and about 35%will present an episode of Acute Colonic Diverticulitis(ACD). To date, there are not studies to compare its presentation in elderly patients. The aim of this study was to compare the clinical presentation, diagnostic procedures, treatment and complications of acute colonic diverticulitis (ACD)in patients older and younger than 65 years. MATERIAL AND METHODS: A retrospective review of patients diagnosed with ACD from January 2003 to May 2006. Exclusion criteria included patients with incomplete medical records and those who didn't complete the in hospital treatment. Demographic,clinical, laboratory, and radiological,prognostic variables as well as chosen treatment,presence of complications were evaluated. Descriptive and comparative statistic analysis was performed by the Fisher Exact Test for categorical variables and Student t-Test for continual variables considering a statistically significant difference for p <0.05. The analysis was made with SPSS/PC v12.0 software. RESULTS: Of 126 patients, 69 were men and 57 women; 93 younger than 65 years and 33 older than 65 years. 20 patients were excluded by previously defined criteria. Significant statistical differences were found for presence of pain in the left inferior quadrant (73.2% vs. 48.5% p <0.01); mean hemoglobin level (14.6 vs. 13.2 g/dL p<0.01), presence of anemia (10.8% vs. 27.3% p <0.05) use of ultrasonography (24.7% vs. 6.1%,p < 0.05) and presence of hemorrhage (3.3% vs.21.3% p < 0.01) respectively. There was not mortality in the series. CONCLUSION: This series demonstrates that elderly patients with ACD have a greater rate of lower gastrointestinal bleeding and greater degree of anemia than younger patients.

[Nutritional and surgical management of short bowel syndrome. Our last 6 patients' experience]. / Manejo nutricional y quirúirgico del intestino corto como causa de fracaso intestinal en niños. A propósito de seis pacientes.

BACKGROUND: Children cause of intestinal failure is short-bowel syndrome. It provokes an altered absorption of nutrients and makes patients to be dependent on parenteral nutrition (PN) while they wait or not for an intestinal transplantation, with its side effects. It is crucial to achieve the maximum efficiency of remaining intestine. Many surgical techniques have been led to reduce stasis of dilated small intestine and improve the mucosal surface area for absorption. METHODS: Six patients have presented intestinal failure because of a surgical resection during newborn period. 2 gastroschisis, 2 intestinal atresias (Apple-peel), 1 necrotizing enterocolitis (NEC) and 1 midgut volvulus. 4 preserve ileocecal valve (ICV): 2 Apple-peel, 1 NEC and the midgut volvulus. The shortest length of bowel after resection were 12cm without ICV (gastroschisis) and 18cm with ICV in a preterm newborn of 24 weeks of gestational age (midgut volvulus). Tapering and plication have been done in Apple-peel cases. No complementary surgical techniques have been necessary in NEC and volvulus. Gastroschisis cases had 12 and 40 cm of small bowel without ICV. In the first one, during newborn period an intestinal lengthening according to Bianchi was done, followed by sequential transversal enteroplasty (STEP), partial gastrectomy and plication of 1st and 2nd duodenal portion. In the second, an STEP was done. All patients have received cycled and optimized PN (COPN) in our centre, only one case (gastroschisis) proceeding from another centre had received standard PN and developed a great hepatic affectation. RESULTS: 2 Apple-peel have been adapted to normal enteral nutrition after 3 and 18 months of COPN, such as NEC and volvulus (3-6 months). One gastroschisis (12cm) has a normal hepatic function with free oral nutrition and home COPN at 23 months. The other one (40cm) has COPN and started enteral nutrition 1 month after surgery, although its hepatic function remains altered. CONCLUSIONS: Parenteral nutrition is essential for these patients to survive. We would like to enhance the importance of COPN in order to preserve hepatic function. Surgical procedures aim to avoid stasis and bacterial overgrowth and improve intestinal motility. Different techniques may be used alone or sequentially. The purpose of this management is to achieve nutritional autonomy or increase waiting time before intestinal transplantation.

[Five years after the Spanish neonatal resuscitation survey. Are we improving?]. / Encuesta española de reanimación neonatal 5 años después. ¿Vamos mejorando?

INTRODUCTION: An analysis is presented of delivery room (DR) neonatal resuscitation practices in Spanish hospitals. METHODS: A questionnaire was sent by e-mail to all hospitals attending deliveries in Spain. RESULTS: A total of 180 questionnaires were sent, of which 155 were fully completed (86%). Less than half (71, 46%) were level i or ii hospitals, while 84 were level iii hospital (54%). In almost three-quarters (74.2%) of the centres, parents and medical staff were involved in the decision on whether to start resuscitation or withdraw it. A qualified resuscitation team (at least two members) was available in 80% of the participant centres (63.9% level i-ii, and 94.0% level iii, P<.001). Neonatal resuscitation courses were held in 90.3% of the centres. The availability of gas blenders, pulse oximeters, manual ventilators, and plastic wraps was higher in level iii hospitals. Plastic wraps for pre-term hypothermia prevention were used in 63.9% of the centres (40.8% level i-iiand 83.3% level iii, P<.001). Term newborn resuscitation was started on room air in 89.7% of the centres. A manual ventilator (T-piece) was the device used in most cases when ventilation was required (42.3% level i-iiand 78.6% level iii, P<.001). Early CPAP in preterm infants was applied in 91.7% of the tertiary hospitals. In last 5 years some practices have improved, such neonatal resuscitation training, pulse oximeter use, or early CPAP support. CONCLUSIONS: There is an improvement in some practices of neonatal resuscitation. Significant differences have been found as regards the equipment or practices in the DR, when comparing hospitals of different levels of care.

Rifampin for eradicating carriage of multiply resistant Haemophilus influenzae b.

We studied the efficacy of rifampin prophylaxis in reducing the prevalence of ampicillin- and chloramphenicol-resistant Haemophilus influenzae type b in four day care facilities after each center had individual cases of invasive infections (two meningitis, one pneumonia and one cellulitis) caused by multiply resistant organisms. Rifampin was given in a single daily dose of 20 mg/kg for 4 days. Cultures were taken pretreatment and 10 days after the last dose of rifampin. Included in the study were 174 children and 27 adults. We identified a total of 55 nasopharyngeal carriers; 45 received rifampin and 10 refused treatment. On the 10-day follow-up culture in the second sample, 95.5 and 20%, respectively, of treated and untreated children were no longer colonized with H. influenzae (P less than 0.001, Fisher's exact test). We conclude that rifampin can successfully reduce the prevalence of multiply resistant H. influenzae type b carriers attending day care centers.

Clinical and immunological spectrum of partial DiGeorge syndrome.

We present four cases of DiGeorge syndrome diagnosed at our center. Onset occurred during the neonatal period and was associated with severe congenital heart disease. In case 1, the patient had heart disease and absence of thymus. Total T-lymphocytes were 34%; total T4-lymphocytes were 27%. Stimulation test with phytohemagglutinin (PHA), concanavalin A (conA) and pokeweed mitogen were negative. Microdeletion was found in the chromosome 22q11 region. The second case involved heart disease, microstomia, round and rotated ears and branchial cyst. Total T-lymphocytes were 38% and total T4-lymphocytes 27%. Thymus was absent. Microdeletion in the chromosome 22q11 region. Case 3 showed heart disease, renal malformation, absence of thymus and parathyroid gland. The patient died 5 days postsurgery. Microdeletion was seen at chromosome 22q11. In the fourth case there was heart disease, microretrognathia, hypertelorism, short neck, absence of thymus and parathyroid glands. Total T-lymphocytes were 22%, total T4-lymphocytes 15%, and total T lymphocytes for pokeweed mitogen were negative. Microdeletion was found at chromosome 22q11. At the age of 13 days the patient died. The cases were recorded during a 2-year period, between 1997 and 1998. The prevalence of DiGeorge syndrome in the number of admissions for congenital heart disease among the neonates at our hospital was 3.14%. Presentation in the form of repeated infections is rare, since most cases of DiGeorge syndrome are partial, and functional cellular immunity is preserved.

Radiohumeral synostosis, femoral bowing, other skeletal anomalies and anal atresia, a variant example of Antley-Bixler syndrome?

We report a newborn with radiohumeral synostosis, femoral bowing, anal atresia, a prominent nose (pear shaped nose), slender ribs, long tapering fingers with distal camptodactyly, genital hypoplasia and a neonatal humeral fracture. Among the possible differential diagnoses a variant example of Antley-Bixler syndrome is considered to be the most likely final diagnosis.

Unilateral atrophoderma of Pasini and Pierini.

Atrophoderma of Pasini and Pierini usually appears as isolated, round to oval depressed areas of otherwise normal-appearing skin. The clinical appearance has been likened to "footprints in the snow" or depressions with "cliff drop" borders. The condition is of unknown cause and most commonly occurs on the back, but it is occasionally seen elsewhere on the body. A literature search revealed only one previous report of unilateral atrophoderma of Pasini and Pierini.

[Cerebellar hemorrhage in full-term newborn babies]. / Hemorragia cerebelosa en recién nacidos a término.

INTRODUCTION: Cerebellar hemorrhage (CH) has been observed in 5 to 10% of the autopsies done on newborn babies. Since neuroimaging techniques have become available it is easier to diagnose the condition. In this paper we report on a series of cases of CH in full-term newborn babies. OBJECTIVES: To determine the number of patients with CH diagnosed by neuroimaging, make a descriptive study and analyze their progress. RESULTS: Between 1984 and 1999 six patients had CH, three boys and three girls, five born after their mother's first pregnancy. Four were vaginal births; in two forceps were used and in one a vacuum extractor; two were born by cesarean section. Four showed symptoms within the first 48 hours of life, one on the fourth day and one on the twenty fifth day. The latter had hemorrhagic disease of the newborn. In five patients transfontanellar ultrasound was useful in diagnosis. In all six cases computerized axial tomography scan confirmed the diagnosis. Cerebral magnetic resonance (MR) was done in three cases. No arteriovenous malformations were shown on angio-MR. Two patients had hydrocephalus and both were treated by ventriculo-peritoneal shunts. Three cases had transient ventricular dilatation which improved with medical treatment. The patient with hemorrhagic disease of the newborn had alterations in blood clotting. In three patients metabolic studies were normal. Five patients were treated conservatively and only one neurosurgically. Subsequent evolution was characterized by the presence of psychomotor retardation with mild cerebellar signs. At school age, only observed in two cases, there were learning difficulties with a low intellectual coefficient and problems with reading and writing. In one case there was epilepsy, controlled by use of two antiepileptic drugs. CONCLUSIONS: Half the cases of CH transfontanellar ultrasound is useful in diagnosis. Most patients were managed conservatively. During the clinical course there were psychomotor retardation, cerebellar signs, cognitive deficits with learning problems and epilepsy.

[Perinatal intracranial hemorrhage due to immune thrombocytopenia]. / Hemorragia intracraneal perinatal por trombocitopenia inmune.

INTRODUCTION: Immune neonatal thrombocytopenia is caused by maternal antibodies (IgG) passing across the placenta, with subsequent destruction of foetal platelets. There are two forms, the iso-aloimmune forms, with an incidence of intracranial hemorrhage (ICH) in the neonatal period of 10-20%, and the autoimmune form with an incidence of only 1%. OBJECTIVE: To review the patients with this condition in a neonatal unit. CLINICAL CASES: During the past 12 years, three patients with ICH due to immune thrombocytopenia were attended in the neonatal unit. Three newborn babies had ICH (two intrauterine, at 30 and 33 weeks of gestation, and one postnatal) secondary to immune thrombocytopenia (two aloimmune and one autoimmune). Two births were by caesarean section and one was vaginal. All three had thrombocytopenia at birth (12,000; 23,000 and 56,000 platelets/mm3). Immunological study of the platelets from the patients with aloimmune thrombocytopenia showed the absence of HPA-1a in their mothers. The patients were treated with gammaglobulins and platelets. Intracranial hemorrhage was confirmed on neuroimaging in all cases. A porencephalic cyst was seen to have formed in two cases. The clinical course was satisfactory in two patients. However, the third patient had severe motor impairment and died 9 months later. In all three patients the PEV were altered and two had reduced visual acuity. CONCLUSIONS: 1. Perinatal ICH due to immune thrombocytopenia is uncommon, but potentially serious. 2. We suggest that cranial ecographic studies should be done in all newborn babies with immune thrombocytopenia even when no neurological disorder is seen. 3. Early diagnosis and suitable treatment may help to reduce the neurological sequelae. 4. The neurological complications are due to intraparenchymatous hemorrhage, and visual sequelae are frequent.