Successful ultrarapid cryopreservation of wild Iberian ibex (Capra pyrenaica) spermatozoa.

A method for cryopreserving wild ibex sperm at high cooling rates was developed. To design a freezing solution based on Tris, citric acid, and glucose (TCG), two preliminary experiments were performed using glycerol (GLY) and dimethyl sulfoxide (DMSO) at different concentrations (5%, 10%, 20%). The 10% GLY + 10% DMSO combination reduced (P < 0.05) frozen-thawed sperm motility, which reached a minimum when 20% GLY + 20% DMSO was used. In the second experiment, sperm tolerance to three sucrose concentrations was evaluated (100-mM sucrose, 300-mM sucrose, 500-mM sucrose). Frozen-thawed sperm motility and sperm viability decreased (P < 0.05) at concentrations above 300 mM. The ultrarapid cooling procedure finally used involved a TCG egg yolk (ey)-based extender with 100-mM sucrose, either alone or with 5% GLY with or without BSA. Two warming procedures (37 °C vs. 60 °C) were also evaluated. The TCG ey with 100-mM sucrose but without GLY/BSA returned the best sperm quality variables. Slow warming at 37 °C strongly affected (P < 0.05) sperm motility and viability in all groups. Sperm selection by density gradient centrifugation produced no motile sperm when slow warming was performed. In contrast, when fast warming was used, sperm selection increased (P < 0.05) percentage of motility, viability, and the percentage of sperms with intact acrosomes. Heterologous in vivo fertilization involving domestic goats was performed to evaluate the in vivo fertilization capacity of the ultrarapidly cooled cryopreserved sperm (in TCG-ey + 100 mM sucrose), with warming undertaken at 60 °C. Inseminations of domestic goats resulted in three pregnancies (3 of 16, 18.7% fertility). In conclusion, ibex spermatozoa are strongly sensitive to high concentrations of permeable cryoprotectants and sucrose. However, the combination of ultrarapid cooling, using TCG-ey + 100-mM sucrose, and fast warming at 60 °C, followed by sperm selection by density gradient centrifugation to collect the motile sperm, has a positive effect on sperm viability.

[A prospective study of neurodevelopment of uninfected children born to human immunodeficiency virus type 1 positive mothers]. / Estudio prospectivo comparativo sobre el desarrollo psicomotor de niños, nacidos de madres positivas para el virus de inmunodeficiencia humana tipo 1 no infectados.

INTRODUCTION: The human immunodeficiency virus type 1 (HIV-1) has tropism for the immune and central nervous systems (CNS). Intrauterine exposure to HIV-1 induces immunological alterations, independent of infection that might affect the development of the CNS. Similarly, the intrauterine exposure to antiretrovirals might also affect the neurodevelopment. AIM: To evaluate the neurodevelopment of babies born to HIV-1 positive mothers (exposed) and compare with babies born to HIV-1 negative mothers (unexposed). SUBJECTS AND METHODS: We carried-out an observational prospective study of neurodevelopment of 23 exposed and 20 unexposed children using the infant development scale Bayley-II, and the Denver-II test, neurological examination and anthropometric measurements during the first two years of life. RESULTS: None of the exposed babies acquired the infection. At one month of age the exposed babies exhibit normal but statistically lower values in the head circumference, compared to unexposed neonates. No differences were found in the psychomotor development index between both studied groups and exposed babies exhibited a lower mental development index but only at six months of age. The exposed babies exhibited a higher number of alterations during the neurological and Denver-II tests without reaching significant differences. CONCLUSIONS: The results suggest that intrauterine exposure to HIV-1 and to antiretrovirals in uninfected children born to HIV-1 positive mothers does not induce alterations in the neurodevelopment, at least during the first two years of life.

[Phenotypic characterisation of 35 Colombian children with an imaging diagnosis of schizencephaly]. / Caracterización fenotípica de 35 niños colombianos con diagnóstico imaginológico de esquisencefalia.

INTRODUCTION: Schizencephaly is the most frequent neuronal migration disorder. It is classified according to the type of lip (closed or open). Clinical features vary from the asymptomatic patient to severe neurological compromise. AIM: To describe the clinical characteristics of children who have been diagnosed with schizencephaly and their correlation with radiological findings. PATIENTS AND METHODS: Thirty-five Colombian children (17 males and 18 females) with a neuroimaging diagnosis at a mean age of 20.2 months were characterised phenotypically. RESULTS: A history of perinatal events such as neonatal asphyxia (21.6%) and meconium-stained amniotic fluid (10.8%) were detected, together with maternal histories of failure to attend prenatal check-ups (34.3%), risk of preterm labour (10.8%) and smoking (10.8%). Familial histories of neurological diseases included epilepsy (14.3%) and mental retardation (5.7%). The open-lip type was predominant (60%) and was twice a common as the closed-lip type. Unilateral cases accounted for 62.9% of the total number, with a distribution between the two hemispheres in the same proportion, and 37.1% of cases were bilateral. The frontal lobe that was the most commonly involved. The most frequent manifestations were delayed psychomotor development (80%) and infantile cerebral palsy (80%). Epilepsy was present in 37.1% of cases and the predominant type of seizure was complex focal. CONCLUSIONS: Tendencies similar to those reported in other series were observed, although with some differences, such as the higher mean age at the time of diagnosis and the lower incidence of resistant epilepsy. Limited access to prenatal check-ups, open-lip presentation, associated malformations and poor response to treatment seem to exacerbate the prognosis.

[Genetic linkage analysis of Gilles de la Tourette Syndrome in a Colombian family]. / Análisis de ligamiento genético del síndrome de Gilles de la Tourette en una familia colombiana.

INTRODUCTION: Gilles de la Tourette Syndrome (GTS) is a chronic neuropsychiatric disorder characterized by phonic and motor tics. Although its physiopathologic bases are unknown, the cortical-striatal-thalamic-cortical circuit has been studied. The association of GTS with attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), motors tics (MT) or phonics tics (PT), the high family aggregation, and the concordance studies in twins, support the genetics bases of this disorder. Currently, GTS is accepted as a complex disorder and the associated disorders could be alternative expressions of the same syndrome. AIM: To evaluate genetic linkage to 2p11, 6p24, 11q23, 20q13 and 21q22 regions in an Antioquian family with enough power to detect linkage. PATIENTS AND METHODS: With the Linkage program and using autosomic dominant, recessive and additive inheritance models, the genetic linkage was calculated; two phenotypic spectra was considered: one broad spectrum including affected individuals with GTS, ADHD, OCD, MT, and PT, and a narrow spectrum with only GTS. RESULTS: The most probable inheritance pattern for a susceptibility locus in GTS and its associated disorders in this family is autosomic additive. The presence of a locus involved in GTS in the 2p11 region has been rejected. CONCLUSION: The linkage values for D20S1085 and D6S477 markers are suggestive and therefore it is not possible reject that these markers will be in linkage disequilibrium with genes involved in the GTS, ADHD, OCD, MT, and PT etiology.

[Prevalence of attention deficit hyperactivity disorder in Colombian children and teenagers]. / Prevalencia del trastorno por déficit de atención-hiperactividad en niños y adolescentes colombianos.

INTRODUCTION: Attention deficit hyperactivity disorder (ADHD) is the most common neurobehavioural disorder among schoolchildren. It may persist into adulthood and affect performance in the academic, social, occupational and familial spheres, and increase the use and abuse of alcohol and psychoactive substances and the risk of having an accident. Its prevalence throughout the world varies widely and further knowledge about this situation would be valuable for the development of policies in the sector of education. AIMS: The aim of this research was to determine the prevalence of ADHD and its distribution according to subtypes in schoolchildren from Sabaneta, Antioquia, Colombia, in 2001. SUBJECTS AND METHODS: The analysis involved a cross-sectional descriptive study using a representative randomised multistage sample (which was proportional to the size of the groups) of schoolchildren between 4 and 17 years old. Measurement was performed in two stages, first by application of a screening form according to DSM IV criteria, and later a structured interview, Conners' and Intelligence tests. RESULTS: Prevalence was found to be 20.4% and 15.8% if only children with an intelligence quotient of 80 or above were considered. The combined subtype was the most frequent, with 9.6%. In public schools it was 16.2%, private 15.3%, age group from 7-11 years 16.9%, 12-17 years old 14.2%, males 20.9%, females 10.1%, low 14.7%, medium 17.4% and high socioeconomic level 10.7%, with a male to female prevalence ratio of 3.88 to 1. CONCLUSIONS: Prevalence of ADHD in the school population in a municipality in the Metropolitan Area of Medellin, Colombia, is high. The most frequent subtype was the combined type, which was predominant in males, had repercussions on academic performance and low proportions of pharmacological interventions for the disorder (15%). Programmes must be developed for the detection of this problem and subsequent intervention in the school population.

A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset.

Three related patients from Colombia presented with a juvenile-onset neuronal ceroid lipofuscinosis. Electron microscopy of one case showed condensed fingerprint profiles, and genetic analyses identified a novel missense mutation in CLN5. The authors demonstrate the existence of pathogenic CLN5 mutations outside northern Europe and that mutations in this gene can lead to an atypical late-onset neuronal ceroid lipofuscinosis disease, in addition to the late infantile form first described in Finland.

A novel SCN1A mutation associated with severe GEFS+ in a large South American pedigree.

Generalized epilepsy with febrile seizures plus (GEFS+) is an inherited epileptic syndrome with a marked clinical and genetic heterogeneity. Here we report the molecular characterization of a large pedigree with a severe clinical form of GEFS+. Genetic linkage analysis implied the involvement of the FEB3 in the disease phenotype of this family (parametric two-point lod-score of 2.2). Sequencing of the SCN1A gene revealed a novel aspartic acid for glycine substitution at position 1742 of this sodium channel subunit. The amino-acid replacement lies in the pore-forming region of domain IV of SCN1A. Our observations are consistent with the genotype-phenotype correlation studies suggesting that mutations in the pore-forming loop of SCN1A can lead to a clinically more severe epileptic syndrome.

[Clinical characterisation and power simulations to detect genetic linkage in attention deficit hyperactivity disorder in Antioquian families]. / Caracterización clínica y simulaciones de poder para ligamiento genético en el trastorno por déficit de atención con hiperactividad en familias antioqueñas.

INTRODUCTION: Attention deficit hyperactivity disorder (ADHD) is a neurobehavioural disorder whose essential characteristic is a persistent pattern of inattention or hyperactivity and impulsiveness. Recent studies into prevalence carried out on the Antioquian population by our group found an overall prevalence of 15.8%, which confirms ADHD as one of the most frequent problems in infancy. The cause of this disorder is still not altogether clear; familial aggregation of ADHD points towards a genetic component. Although to date no model of inheritance has been defined, its high prevalence rate, the difficulties involved in its diagnosis and its effects on the cognitive functions, as well as the social and educational repercussions, make this disorder a problem in children's public health. AIMS: Our aim was to carry out power simulations to detect genetic linkage. PATIENTS AND METHODS: The Slink programme, which is part of Linkage package, was used in six families from the city of Medellín Antioquia, which is a region where a founding effect is likely to have taken place; this makes it a strategic zone for genetic linkage studies in complex diseases such as ADHD. RESULTS: Assuming the population to be homogenous, the lod score (Z) is greater than 3 (Z>3) and individual lod score values of between 0 and 6 were obtained for each family. CONCLUSIONS: In this paper we discuss the benefits of having multigenerational families, in Antioquia, to conduct gene mapping studies and we examine the different strategies to be developed with the findings reported here.

[Cerebrovascular disease in children with sickle cell anaemia]. / Enfermedad cerebrovascular en niños con anemia de células falciformes.

INTRODUCTION: Cerebrovascular disease (CVD) is one of the most clinically devastating complications in children with sickle cell anaemia (SCA) and an important cause of death in this population. AIMS: To determine the incidence of CVD in children with SCA and to characterise the risk factors and other related clinical and imaging aspects. PATIENTS AND METHODS: We conducted a retrospective, cross sectional, descriptive study of paediatric patients with SCA and CVD that covered the period between January 1992 and February 2002. RESULTS: A total of 131 children with SCA were registered in the period between January 1992 and February 2002, during which five children suffered some kind of CVD event. This figure corresponds to 3.81% of the patients with SCA and 7.69% of the total number of children with CVD. The most frequent clinical presentation of the CVD is bouts of seizures and the most frequently observed type of CVD is ischemic, chiefly located in the middle cerebral artery. Of the different predictors that exist for ischemic CVD, haemoglobin count was found to be lower than in haemorrhagic CVD. CONCLUSION: CVD is a common complication in the progress of patients with SCA with a high percentage of neurological sequelae.

[Clinical and radiological findings in two cases of aspergillosis of the central nervous system in children]. / Hallazgos clínicos y radiológicos de dos casos de aspergilosis del sistema nervioso central en niños.

INTRODUCTION: Aspergillosis is the second fungemia after candidiasis that affects the central nervous system of immunodeppresed and immunocompetent humans. The literature reports nearly always compromised adults. CASE REPORTS: Two pediatric cases of central nervous system aspergillosis with different clinical course are presented. The first of them, is a immunocompetent person in whom a granulomatous disease of the central nervous system was suspected. The cultivation of stereotaxic biopsy reported thin septated hyphae. After 42 days of treatment with itraconazol the patient recovered completely. The second patient, had an acute lymphoblastic leukemia and developed a widespread aspergillosis including the central nervous system. In spite of antifungic treatment for 63 days, he died of heart failure. CONCLUSIONS: Diagnosis of aspergillosis is difficult because of the poor specificity of the neuroimages, cerebrospinal fluid and complementary labs. The images are indistinguishable from acute ischemia infarcts and later those images change to abscesses. Direct KOH staining and the cultivation of biopsed samples confirmed the diagnosis of aspergillosis. An aggressive treatment with amphotericin B and itraconazol is recommended, but high mortality is suspected. Diagnosis, neuroimaging, clinical evolution and treatment are discussed.

[Clinical characteristics of optical neuritis in children]. / Características clínicas de la neuritis óptica en niños.

OBJECTIVE: To describe the clinical characteristics and the visual prognosis of a group of children affected with optic neuritis. PATIENTS AND METHODS: The clinical charts of patients under 15 years of age with clinical criteria of optic neuritis were revised at the Hospital Universitario San Vicente de Pa l (Medell n, Colombia), in a time span from January 1th 1989 to December 31th 2001. RESULTS: 16 patients fulfilled the clinical criteria of optic neuritis; 50% were male and the overall mean age was 9,4 years. Seven (43,7%) patients had a preceding infectious disease two weeks earlier and only one suffered from varicella four weeks earlier. Decrease in visual acuity was present in 15 (94%) patients; 7 (44%) had headache; 7 (44%) had ocular ache and 25% had both, head and ocular ache. Neuritis was found in 28 eyes, of whom 68% had papilledema and in 32% the fundoscopic examination was normal. Bilateral affection was present in 75%. Excellent visual prognosis (20/20) was present in 19 (68%) of affected eyes; good (20/20 to 20/50) in 4 (14%), regular (20/50 to 20/100) in 2 (7%) and bad (20/200) in 11%. CONCLUSION: In our country the clinical evolution of childhood optic neuritis does not differ from that reported in other parts of the world.

[Evaluation of the efficacy and safety of dilevalol in the treatment of essential arterial hypertension]. / Evaluación de eficacia y seguridad del dilevalol en el tratamiento de la hipertensión arterial esencial.

Dilevalol, an optical isomer of labetalol, combines beta-blocking and vasodilator actions which prevent reflex tachycardia and it also has intrinsic beta-2-agonist action. Its low alpha-blocking action prevents orthostatic hypotension and improves first dose tolerance. The present study evaluates the efficacy and safety of dilevalol comparing it with captopril and nifedipine. Fifty-eight mild to moderate essential hypertensive patients were studied. After a 2 to 3 week placebo lead-in phase, patients with diastolic blood pressure between 95 and 105 mmHg were included., Patients were randomly assigned to one of the 3 study drugs for a 4-week period. Initially, 15 patients received dilevalol 200 mg qd and 15 captopril 100 mg bid; afterwards, 14 received dilevalol 200 mg qd and 14 nifedipine 40 mg bid. In the first group dilevalol decreased mean blood pressure (MBP) from 118.0 +/- 1.3 to 107.3 +/- 2.7 mmHg at week 4 and captopril from 117.8 +/- 1.2 to 108.6 +/- 2.7 (p less than 0.05). When dilevalol and nifedipine were compared, the former decreased MBP from 116.0 +/- 2.0 to 104.3 +/- 3.2 mmHg and the latter from 115.0 +/- 1.4 to 106.0 +/- 3.0 (p less than 0.05). The drug was well tolerated without evidence of orthostatic hypotension. Our results demonstrate that dilevalol is as safe and effective as captopril and nifedipine for the treatment of essential hypertension.

[Myxoma of the right ventricle: report of a clinical case and review of the literature]. / Mixoma del ventrículo derecho: informe de un caso clínico y revisión de la literatura.

We studied a seventeen year old female patient with clinical manifestations of pulmonary embolism. A Two-Dimensional echocardiography showed the presence of a right intraventricular mass. It was surgically removed and the histopathological study showed it to be a myxoma. The recovery of the patient was uneventful. This is the first case of a right ventricular myxoma diagnosed during life in our hospital. The medical literature describing this unusual location is reviewed.