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3.
An. pediatr. (2003, Ed. impr.) ; 80(3): 151-158, mar. 2014. ilus, tab, graf
Article in Spanish | IBECS | ID: ibc-119862

ABSTRACT

INTRODUCCIÓN: La oclusión aguda mantenida seuida de la reperfusión de la arteria mesentérica superior (AMS) puede desencadenar en pocas horas el daño irreversible del intestino. Nuestro objetivo fue determinar los cambios de flujo mesentérico medidos por ecografía Doppler color y la correlación con las lesiones histológicas en un modelo experimental de isquemia-reperfusión. MATERIAL Y MÉTODO: Se estudiaron 3 grupos (control, isquemia y reperfusión) de ratas Sprague-Dawley de 17 días de vida. El modelo utilizado fue de isquemia-reperfusión sobre la AMS. Posteriormente, realizamos una ecografía intraabdominal. Las variables ecográficas fueron: velocidad sistólica máxima (VSM), velocidad media (Vm), flujo diastólico (FD) y los índices de pulsatilidad (IP), resistencia (IR) y sístole/diástole (S/D). Las variables histológicas fueron: lesión intestinal (escala Wallace/Keenan y Chiu), morfométricas (altura [AMV] y espesor medio de vellosidades) y células caliciformes. Utilizamos la correlación de Sperman (rs). RESULTADOS: En el grupo reperfusión la VSM (74,3 cm/s), el IP (7,33) y S/D (25,75) en la AMS se encuentran aumentados respecto a los controles (41,35 cm/s [3,12]; [12.45]). La VSM, IP y S/D establecieron regresiones significativas (p < 0,01) con: Wallace/Keenan (rs = 0,655; rs = 0,593; rs = 0,63), Chiu delgado (rs = 0,569; rs = 0,522; rs = 0,47), la AMV (rs = -0,495; rs = -0,452; rs = -0,459), y células caliciformes del colon (rs = -0,525; rs = -0,45; rs = -0,518). CONCLUSIONES: En la fase de reperfusión el incremento del flujo mesentérico expresado por la VSM y el IP podría pronosticar de forma significativa el potencial daño intestinal que ocurre a nivel macroscópico y microscópico


INTRODUCTION: Maintained acute occlusion followed by reperfusion of the superior mesenteric artery (SMA) in a few hours can trigger irreversible bowel damage. The aim of the study was to determine the changes in mesenteric flow measured by colour Doppler Ultrasound and correlating with histological lesions in an experimental model of ischaemia-reperfusion. Method and material: Three groups of Sprague-Dawley 17 day-old rats were studied (control, ischemia and reperfusion). The model used was ischaemia-reperfusion over the SMA. Intraabdominal ultrasound was then performed. The parameters recorded were: Maximum systolic velocity (MSV), pulsatility index (PI), resistance (RI) and systole-diastole (S/D). The histological variables were: intestinal lesion (Wallace/Keenan-Chiu scale), morphometrics (mean villus height [MVH]), and goblet cells. The Spearman (rs) correlation was used. RESULTS: The MSV in the reperfusion group was 74.3 cm/s, the PI 7.33 and S/D 25.75 in the SMA, which were higher than the controls (41.35 cm/s; 3.12 and 12.45, respectively). A direct association (P<.01) was found between MSV, PI and S/D regarding: Wallace/Kennan scoring system (rs = 0.655; rs = 0.593; rs = 0.63) and the Chiu (rs = 0.569; rs = 0.522; rs = 0.47). While the correlation was the reverse (P<0.01) when associated with the MVH (rs = -0,495; rs = -0,452;rs = -0,459) and goblet cells of the colon (rs = -0,525; rs = -0,45; rs = -0,518).CONCLUSIONS: The reperfusion phase increased mesenteric flow expressed by the MSV and PI and could significantly predict the potential bowel damage at macroscopic and microscopic level


Subject(s)
Animals , Rats , Splanchnic Circulation/physiology , Reperfusion Injury , Ischemia/physiopathology , Mesenteric Arteries/physiopathology , Ultrasonography, Doppler, Color , Case-Control Studies , Disease Models, Animal
4.
An Pediatr (Barc) ; 80(3): 151-8, 2014 Mar.
Article in Spanish | MEDLINE | ID: mdl-23831202

ABSTRACT

INTRODUCTION: Maintained acute occlusion followed by reperfusion of the superior mesenteric artery (SMA) in a few hours can trigger irreversible bowel damage. The aim of the study was to determine the changes in mesenteric flow measured by colour Doppler Ultrasound and correlating with histological lesions in an experimental model of ischaemia-reperfusion. METHOD AND MATERIAL: Three groups of Sprague-Dawley 17 day-old rats were studied (control, ischemia and reperfusion). The model used was ischaemia-reperfusion over the SMA. Intra-abdominal ultrasound was then performed. The parameters recorded were: Maximum systolic velocity (MSV), pulsatility index (PI), resistance (RI) and systole-diastole (S/D). The histological variables were: intestinal lesion (Wallace/Keenan-Chiu scale), morphometrics (mean villus height [MVH]), and goblet cells. The Spearman (rs) correlation was used. RESULTS: The MSV in the reperfusion group was 74.3 cm/s, the PI 7.33 and S/D 25.75 in the SMA, which were higher than the controls (41.35 cm/s; 3.12 and 12.45, respectively). A direct association (P<.01) was found between MSV, PI and S/D regarding: Wallace/Kennan scoring system (rs = 0.655; rs = 0.593; rs = 0.63) and the Chiu (rs = 0.569; rs = 0.522; rs = 0.47). While the correlation was the reverse (P<.01) when associated with the MVH (rs = -0,495; rs = -0,452; rs = -0,459) and goblet cells of the colon (rs = -0,525; rs = -0,45; rs = -0,518). CONCLUSIONS: The reperfusion phase increased mesenteric flow expressed by the MSV and PI and could significantly predict the potential bowel damage at macroscopic and microscopic level.


Subject(s)
Mesentery/blood supply , Regional Blood Flow , Reperfusion Injury/physiopathology , Animals , Disease Models, Animal , Mesenteric Artery, Superior , Rats , Rats, Sprague-Dawley , Reperfusion Injury/diagnostic imaging , Reperfusion Injury/pathology , Ultrasonography, Doppler, Color
5.
Gene ; 532(2): 302-6, 2013 Dec 15.
Article in English | MEDLINE | ID: mdl-23973720

ABSTRACT

Pyruvate carboxylase deficiency is a rare metabolic disorder, with three different phenotypes. We aim to report the case of a newborn presenting the severe neonatal form of this deficiency (the B or "French" phenotype, hypokinesia and rigidity being the main features) and the results of the study of classic neurotransmitters involved in movement control. Hyperdopaminergic transmission (both in the cerebrospinal fluid and in the substantia nigra) and hypoGABAergic transmission (in the substantia nigra) were found. Both gamma-aminobutyric acid and dopamine markers were found coexisting in individual neurons of the substantia nigra. This is the first time this phenomenon has been reported in the literature. We discuss the possible role of GABAergic deficiency, its interaction with other neurotransmitters and its implication in neurotransmitter homeostasis. A better comprehension of that field would increase understanding of the pathophysiology of neurological symptoms and neurotransmitter plasticity.


Subject(s)
Parkinsonian Disorders/diagnosis , Pyruvate Carboxylase Deficiency Disease/diagnosis , Brain/metabolism , Brain/pathology , Fatal Outcome , Female , GABAergic Neurons/physiology , Humans , Parkinsonian Disorders/enzymology , Parkinsonian Disorders/physiopathology , Pyruvate Carboxylase Deficiency Disease/physiopathology , Synaptic Transmission , Tyrosine 3-Monooxygenase/metabolism
6.
Neurología (Barc., Ed. impr.) ; 27(4): 202-211, mayo 2012. tab, ilus
Article in Spanish | IBECS | ID: ibc-101994

ABSTRACT

El término “kernicterus” se aplicó inicialmente a la tinción amarilla de los ganglios basales en estudios necrópsicos, pero es un término impreciso y se habla más de encefalopatía por bilirrubina o de disfunción neurológica inducida por la bilirrubina. Clínicamente la toxicidad por hiperbilirrubinemia puede ser muy variable y en países desarrollados tiende a desaparecer. Material y métodos: Revisamos una serie de 7 pacientes con encefalopatía por bilirrubina y diferentes grados de compromiso neurológico, atendidos en los últimos 10 años en el Servicio. Solo falleció un paciente en período neonatal con hiperbilirrubinemia, sepsis y fallo multiorgánico. Resultados: Las causas etiológicas de la hiperbilirrubinemia fueron muy variadas. Los 7 pacientes presentaron ictericia, clínica neonatal, la neuroimagen ya permitió demostrar las lesiones en núcleo pálido con hiperintensidad de T1. Todos los pacientes presentaron manifestaciones clínicas en período neonatal, y secuelas neurológicas más o menos graves en los 6 supervivientes que se intentan correlacionar con los demás parámetros bioquímicos, clínicos, de neuroimagen y neurofisiológicos. Conclusiones: Hemos constatado un incremento de las observaciones de disfunción neurológica inducida por la bilirrubina y nos planteamos conocer las causas de esta situación. La mayor supervivencia de los grandes prematuros, el aumento de la población inmigrante y la posibilidad del diagnóstico por neuroimagen contribuyen a este incremento. Continua siendo un reto para el neonatólogo y el neuropediatra evitar su presentación y minimizar los efectos de la toxicidad por bilirrubina en período neonata (AU)


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 (AU)


Subject(s)
Humans , Male , Female , Infant, Newborn , Kernicterus/epidemiology , Functional Neuroimaging/methods , Hyperbilirubinemia/complications , Infant, Premature , Jaundice, Neonatal/complications , Ultrasonography, Doppler, Transcranial , Evoked Potentials, Auditory , Magnetic Resonance Spectroscopy , Statistics on Sequelae and Disability
7.
Neurologia ; 27(4): 202-11, 2012 May.
Article in Spanish | MEDLINE | ID: mdl-21163242

ABSTRACT

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.


Subject(s)
Kernicterus/physiopathology , Age of Onset , Autopsy , Electroencephalography , Evoked Potentials, Auditory , Exchange Transfusion, Whole Blood , Female , Humans , Hyperbilirubinemia/complications , Hyperbilirubinemia/etiology , Hypnotics and Sedatives/therapeutic use , Infant , Infant, Newborn , Kernicterus/therapy , Magnetic Resonance Imaging , Male , Nervous System Diseases/etiology , Nervous System Diseases/physiopathology , Phenobarbital/therapeutic use , Phototherapy
8.
Aliment Pharmacol Ther ; 33(4): 477-86, 2011 Feb.
Article in English | MEDLINE | ID: mdl-21166832

ABSTRACT

BACKGROUND: Some limited studies of coeliac disease have shown higher frequency of coeliac disease in infancy and adolescence than in adulthood. This finding has remained unnoticed and not adequately demonstrated. AIM: To assess whether there are age and gender differences in coeliac disease prevalence. METHODS: A total of 4230 subjects were included consecutively (1 to ≥80 years old) reproducing the reference population by age and gender. Sample size was calculated assuming a population-based coeliac disease prevalence of 1:250. After an interim analysis, the paediatric sample was expanded (2010 children) due to high prevalence in this group. Anti-transglutaminase and antiendomysial antibodies were determined and duodenal biopsy was performed if positive. Log-linear models were fitted to coeliac disease prevalence by age allowing calculation of percentage change of prevalence. Differences between groups were compared using Chi-squared test. RESULTS: Twenty-one subjects had coeliac disease (male/female 1:2.5). Coeliac disease prevalence in the total population was 1:204. Coeliac disease prevalence was higher in children (1:71) than in adults (1:357) (P = 0.00005). A significant decrease of prevalence in older generations was observed [change of prevalence by age of -5% (95% CI: -7.58 to -2.42%)]. In the paediatric expanded group (1-14 years), a decrease of coeliac disease prevalence was also observed [prevalence change: -17% (95% CI: -25.02 to -6.10)]. CONCLUSIONS: The prevalence of coeliac disease in childhood was five times higher than in adults. Whether this difference is due to environmental factors influencing infancy, or latency of coeliac disease in adulthood, remains to be demonstrated in prospective longitudinal studies.


Subject(s)
Celiac Disease/epidemiology , Severity of Illness Index , Adolescent , Adult , Age Factors , Aged , Aged, 80 and over , Celiac Disease/genetics , Celiac Disease/physiopathology , Chi-Square Distribution , Child , Child, Preschool , Female , Genetic Predisposition to Disease , Humans , Infant , Male , Middle Aged , Prevalence , Sex Factors , Spain/epidemiology , Young Adult
9.
Eur J Paediatr Neurol ; 13(5): 444-51, 2009 Sep.
Article in English | MEDLINE | ID: mdl-18948042

ABSTRACT

Congenital disorder of glycosylation Ia (CDG-Ia) is a metabolic disease with a broad spectrum of clinical signs, including recently described mild phenotypes. Our aim was to describe the clinical presentation and follow-up of eight CDG-Ia patients highlighting atypical features and aspects of evolution of the disease. CDG diagnosis was confirmed by enzymatic analysis of phosphomannomutase (PMM2) and molecular studies of the PMM2 gene. Four neonates presented with cerebral haemorrhage (1), failure to thrive (2) and non-immune hydrops (1) and a fatal course to death (2); pathological examination of the brain in one case revealed olivopontocerebellar atrophy of prenatal origin. During infancy failure to thrive, coagulopathy and hepatopathy were the most significant causes of morbidity, but these disappeared after the first years of life in most patients. Three patients are currently in their 20s; they present mental retardation and severe motor impairment but no acute decompensations were noticed after the first decade of life. They do not present spinal or thoracic deformities otherwise observed in patients from northern countries. A 10-year-old patient who manifested gastrointestinal dysfunction in early childhood showed normal neurodevelopment. Mutation analysis of the PMM2 gene showed great variability, with all patients being compound heterozygous for two different mutations. Long-term evolution in our patients indicates that CDG-Ia is a stable systemic and neurological condition after the first decade of life. The diverse phenotypes and atypical manifestations in our series may be due to their genetic heterogeneity.


Subject(s)
Congenital Disorders of Glycosylation/pathology , Adolescent , Adult , Aging/physiology , Brain/abnormalities , Brain/pathology , Child , Child, Preschool , Congenital Disorders of Glycosylation/genetics , Congenital Disorders of Glycosylation/mortality , DNA Mutational Analysis , Disease Progression , Female , Follow-Up Studies , Genotype , Humans , Infant , Infant, Newborn , Kidney/abnormalities , Magnetic Resonance Imaging , Male , Nervous System Diseases/etiology , Nervous System Diseases/physiopathology , Seizures/etiology , Spain , Tomography, X-Ray Computed , Transferrin/metabolism , Young Adult
10.
Cleft Palate Craniofac J ; 39(4): 457-60, 2002 Jul.
Article in English | MEDLINE | ID: mdl-12071794

ABSTRACT

OBJECTIVE: We present three new cases of congenital upper lip fistula. Two of them were located in the philtrum midline, one of which was associated to a double maxillary frenulum, a medial lip cleft, and a medial cleft of the primitive palate. The other was located in the left side of the vermilion. All three patients had clear fluid discharge through the fistulous orifice without pain. Two of them had a history of recurrent swelling of the philtrum area. CONCLUSIONS: A simple surgical excision is the treatment of choice in these cases, in which the anatomy is preserved; this fact is more consistent with a completed but aberrant development than with focal dysgenesis.


Subject(s)
Cutaneous Fistula/congenital , Lip Diseases/congenital , Oral Fistula/congenital , Child , Child, Preschool , Cleft Lip/complications , Cleft Palate/complications , Cutaneous Fistula/complications , Cutaneous Fistula/surgery , Female , Humans , Labial Frenum/abnormalities , Lip Diseases/complications , Lip Diseases/surgery , Male , Oral Fistula/complications , Oral Fistula/surgery
11.
Neurobiol Dis ; 8(1): 59-68, 2001 Feb.
Article in English | MEDLINE | ID: mdl-11162240

ABSTRACT

Deregulation of intracellular calcium homeostasis is widely considered as one of the underlying pathophysiological mechanisms of hypoxic-ischemic brain injury. Whether this alteration can result in cerebral calcification was investigated in basal ganglia, cerebral cortex, and hippocampus of human premature and term neonates together with glial reaction. In all samples nonarteriosclerotic calcifications were observed, their number and size were area-specific and increased in term neonates. Basal ganglia always presented the highest degree of calcification and hippocampus the lowest, located mainly in the CA1 subfield. In all cases, neuronal damage was associated with astroglial reaction and calcium precipitates, with microglial reaction only in basal ganglia and cerebral cortex, and argues for the participation of excitatory amino acid receptors in hypoxia-ischemia damage. These data correlate with hypoxia-ischemia vulnerability in the perinatal period. The clinical relevance of these precipitates and the neuroprotective interest of non-NMDA receptor manipulation are discussed in the light of our results.


Subject(s)
Calcinosis/pathology , Hypoxia-Ischemia, Brain/pathology , Basal Ganglia/pathology , Calcinosis/metabolism , Calcium/metabolism , Glial Fibrillary Acidic Protein/metabolism , Humans , Hypoxia-Ischemia, Brain/metabolism , Immunohistochemistry , Infant, Newborn , Neuroglia/pathology
12.
Paediatr Anaesth ; 10(4): 441-4, 2000.
Article in English | MEDLINE | ID: mdl-10886705

ABSTRACT

Complete tracheal agenesis is a very rare congenital anomaly that is only compatible with life in some cases with associated tracheo-oesophageal or broncho-oesophageal fistula. In most cases, concomitant congenital anomalies of the heart, digestive tract or genitourinary tract are present. It should be suspected in any neonate with a history of hydramnios, absent crying, respiratory distress and difficulty in intubation. The possibility for surgical correction or palliation rests on the extent of atresia present. We present a case of complete tracheal agenesis without tracheo nor broncho-oesophageal fistula (type II by Floyd's classification) - the diagnosis of which was prenatally suspected - and discuss the important features of the airway management of this condition.


Subject(s)
Trachea/abnormalities , Abnormalities, Multiple , Adult , Amniocentesis , Amniotic Fluid/chemistry , Crying/physiology , Female , Humans , Infant, Newborn , Intubation, Intratracheal , Laryngoscopy , Male , Palliative Care , Phospholipids/analysis , Polyhydramnios/complications , Pregnancy , Respiratory Distress Syndrome, Newborn/etiology , Trachea/diagnostic imaging , Trachea/embryology , Trachea/surgery , Ultrasonography, Prenatal
14.
Acta Neuropathol ; 97(1): 91-7, 1999 Jan.
Article in English | MEDLINE | ID: mdl-9930900

ABSTRACT

Glucosylceramide lipidosis results from a defective lysosomal degradation of this glycolipid. Lipid degradation is controlled by two components, the enzyme beta-glucocerebrosidase and a sphingolipid activator protein. While most Gaucher cases are due to mutations within the gene that codes for the lysosomal enzyme, only two patients have been described with normal enzyme levels and mutations in the gene for the sphingolipid activator protein C (sap-C). Here we present the detailed neurological manifestations, neuropathological findings and brain lipid composition in one sap-C-deficient patient. The patient was an 8-year-old boy who presented with transient losses of consciousness, myoclonic jerks and generalized seizures resistant to all antiepileptic drugs. He developed progressive horizontal ophthalmoplegia, pyramidal and cerebellar signs, and died at the age of 15.5 years. Neuropathological studies demonstrated neuronal cell loss and neuronophagia, massive intraneuronal lipid storage and lack of perivascular Gaucher cells. Electron microscopy examination showed different types of storage including lipofuscin granules as well as the cytosomes with parallel arrays of bilayers that are assumed to be formed by stored lipids. General brain lipid composition did not show a remarkable increase or loss of any of the major lipid fractions but the glucosylceramide concentration in the cortex of several anatomical regions showed a striking increase. Fatty acid composition of the ceramide moiety clearly suggests that gangliosides are the main precursors in the cerebral cortex, while it implies an additional and distinct source in the cerebellum. Studying the phenotypic consequences of mutant sphingolipid activator proteins is critical to a better understanding of the physiological significance of these proteins.


Subject(s)
Cerebral Cortex/pathology , Glucosylceramides/metabolism , Glycoproteins/deficiency , Sphingolipidoses/pathology , Cerebellum/chemistry , Cerebellum/metabolism , Cerebellum/pathology , Cerebellum/ultrastructure , Cerebral Cortex/chemistry , Cerebral Cortex/metabolism , Cerebral Cortex/ultrastructure , Child , Fatal Outcome , Gaucher Disease/metabolism , Gaucher Disease/pathology , Humans , Lipids/analysis , Male , Microscopy, Electron , Saposins , Sphingolipid Activator Proteins , Sphingolipidoses/metabolism , Spinal Cord/chemistry , Spinal Cord/metabolism , Spinal Cord/pathology , Spinal Cord/ultrastructure , Spleen/pathology , Spleen/ultrastructure
15.
J Inherit Metab Dis ; 20(4): 569-77, 1997 Aug.
Article in English | MEDLINE | ID: mdl-9266394

ABSTRACT

Heat shock protein 60 (hsp60) is a mitochondrial matrix protein involved in the folding and correct assembly of polypeptides into complex mitochondrial enzymes. Its deficiency has recently been described as the most likely primary cause of congenital lactic acidaemia with multiple mitochondrial enzyme deficiencies in a female patient. We describe a new case of a girl with a substantially decreased amount of hsp60 in cultured fibroblasts. She presented from birth with hypotonia, unusual facial features, feeding difficulties and failure to thrive. Death occurred at age 4.5 years. Biochemical findings included metabolic acidosis with lactic acidaemia, hyperammonaemia and intermittent ketosis. In contrast to the previously reported case, organic acid analysis showed an altered profile throughout her life. In agreement with this profile, various mitochondrial enzyme activities were deficient in cultured fibroblasts, including enzymes of the respiratory chain and the Krebs cycle, the pyruvate dehydrogenase complex and the mitochondrial biotindependent carboxylases. Fibroblast mitochondria showed ultrastructural abnormalities, were swollen, and were mainly localized around the nucleus. The description of a second case of multiple mitochondrial enzyme deficiencies with reduced amount of hsp60 supports the idea that hsp60 deficiency might be a more common cause of mitochondrial disease. This opens new possibilities for the diagnosis and understanding of congenital lactic acidaemia.


Subject(s)
Enzymes/deficiency , Heat-Shock Proteins/deficiency , Metabolism, Inborn Errors/metabolism , Mitochondria, Liver/enzymology , Mitochondrial Encephalomyopathies/metabolism , Amino Acids/metabolism , Blotting, Western , Chromatography, Ion Exchange , Coenzymes/metabolism , Enzymes/blood , Enzymes/urine , Fatal Outcome , Female , Fibroblasts/enzymology , Humans , Infant , Metabolism, Inborn Errors/enzymology , Mitochondria, Liver/ultrastructure , Mitochondrial Encephalomyopathies/enzymology
16.
Ultrasound Obstet Gynecol ; 10(6): 400-2, 1997 Dec.
Article in English | MEDLINE | ID: mdl-9476324

ABSTRACT

In normal pregnancy, end-diastolic flow appears in the umbilical artery around the 13th week of gestation, with a velocity which increases progressively with advancing gestation. The detection of reversed flow in the umbilical artery, the highest expression of an increase in placental vascular resistance, is extremely uncommon in the first half of gestation and, in three of the four cases reported in the literature, there were chromosomal abnormalities. We report a new case of reversed end-diastolic flow in the umbilical artery in a 13-week fetus with increased nuchal translucency thickness, megacystis and tachycardia. Cytogenetic analysis of chorionic villi and amniocytes revealed trisomy 13. The findings provide further evidence for a possible association between reversed end-diastolic flow in the umbilical artery and chromosomal abnormalities. However, the effectiveness of this potential marker in an unselected population requires further evaluation.


Subject(s)
Chromosome Aberrations/diagnostic imaging , Chromosomes, Human, Pair 13 , Trisomy/diagnosis , Ultrasonography, Prenatal , Umbilical Arteries/physiopathology , Adult , Amniocentesis , Blood Flow Velocity/physiology , Chorionic Villi Sampling , Chromosome Aberrations/genetics , Chromosome Aberrations/physiopathology , Chromosome Disorders , Diastole , Female , Humans , Karyotyping , Pregnancy , Trisomy/genetics , Trisomy/physiopathology , Umbilical Arteries/diagnostic imaging
17.
Rev Neurol ; 24(125): 87-90, 1996 Jan.
Article in Spanish | MEDLINE | ID: mdl-8852008

ABSTRACT

A case of primary leptomeningeal melanomatosis without cutaneous lesions is reported. The clinical findings for a six months period were: intracranial hypertension syndrome, progressive cranial polineuropathy and a spinal involvement in a six years old child. CT brain scan showed enlarged subarachnoid spaces without contrast enhancement. MRI brain scan evidenced furthermore a focal lesion in right talamus. MRI spinal scan was normal. Examination of CSF showed elevated protein and reduced glucose concentrations as well as mild pleocytosis. Serologies and cultures investigating viral, bacterial, mycobacterial, fungal or parasitic infections resulted negative. CSF cytologic examination failed to show malignant cells. Postmortem diagnosis after neuropathological examination was made. This is an uncommon case of primary leptomeningeal melanomatosis, presenting the difficulty of diagnosis when cutaneous lesions are not present.


Subject(s)
Arachnoid/pathology , Brain Neoplasms/pathology , Melanoma/pathology , Arachnoid/ultrastructure , Brain Neoplasms/diagnosis , Brain Neoplasms/ultrastructure , Child , Fatal Outcome , Humans , Magnetic Resonance Imaging , Male , Melanoma/diagnosis , Melanoma/ultrastructure , Nerve Degeneration
20.
Am J Med Genet ; 59(1): 96-9, 1995 Oct 23.
Article in English | MEDLINE | ID: mdl-8849020

ABSTRACT

We report on two further cases, a sister and a brother, with Schinzel-Giedion syndrome. Both presented the following manifestations: "coarse face" with midface retraction, agenesis of corpus callosum, bilateral hydronephrosis, and typical skeletal anomalies. Patient 1 had a malignant sacrococcygeal teratoma. This is the third case of malignancy in this syndrome. Patient 2 died shortly after birth.


Subject(s)
Abnormalities, Multiple/genetics , Face/abnormalities , Sacrococcygeal Region , Teratoma/genetics , Abnormalities, Multiple/pathology , Family , Female , Humans , Infant, Newborn , Male , Syndrome
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