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1.
Plant Biol (Stuttg) ; 21(3): 487-497, 2019 May.
Article in English | MEDLINE | ID: mdl-29972724

ABSTRACT

Conopodium majus is a geophyte with pseudomonocotyly, distributed in Atlantic Europe. It is an indicator of two declining European habitats: ancient woodland understories and oligotrophic hay meadows. Attempts to reintroduce it by seed have been hindered by scarce seedling emergence and limited knowledge of its seed biology. Micro-CT scanning was used to assess pseudomonocotyly. Embryo growth and germination were studied in the laboratory and the field, using dissection and image analysis. The effects of temperature, light, nitrate and GA3 on germination were tested. Seed desiccation tolerance was investigated by storage at different RHs and by drying seeds at different stages of embryo growth. Seeds possess morphological but not physiological dormancy. Embryo growth and germination were promoted by temperatures between 0 and 5 °C, arrested above 10 °C, and indifferent to alternating temperatures, light, nitrate and GA3 . Pseudomonocotyly appears to result from cotyledon fusion. While seeds tolerated drying to 15% RH and storage for 1 year at 20 °C, viability was lost when storage was at 60% RH. Seeds imbibed at 5 °C for 84 days had significant internal embryo growth but were still able to tolerate drying to 15% RH. Reproduction by seed in C. majus follows a strategy shared by geophytes adapted to deciduous temperate forests. The evolution of fused cotyledons may enable the radicle and the hypocotyl to reach deeper into the soil where a tuber can develop. The embryo is capable of growth within the seed at low temperatures so that germination is timed for early spring.


Subject(s)
Apiaceae/metabolism , Seeds/metabolism , Apiaceae/physiology , Ecology , Germination/physiology , Seedlings/metabolism , Seedlings/physiology , Seeds/physiology
2.
Rice (N Y) ; 10(1): 50, 2017 Dec 15.
Article in English | MEDLINE | ID: mdl-29247303

ABSTRACT

BACKGROUND: The DEFECTIVE IN OUTER CELL LAYER SPECIFICATION 1 (DOCS1) gene belongs to the Leucine-Rich Repeat Receptor-Like Kinase (LRR-RLK) subfamily. It has been discovered few years ago in Oryza sativa (rice) in a screen to isolate mutants with defects in sensitivity to aluminum. The c68 (docs1-1) mutant possessed a nonsense mutation in the C-terminal part of the DOCS1 kinase domain. FINDINGS: We have generated a new loss-of-function mutation in the DOCS1 gene (docs1-2) using the CRISPR-Cas9 technology. This new loss-of-function mutant and docs1-1 present similar phenotypes suggesting the original docs1-1 was a null allele. Besides the aluminum sensitivity phenotype, both docs1 mutants shared also several root phenotypes described previously: less root hairs and mixed identities of the outer cell layers. Moreover, our new results suggest that DOCS1 could also play a role in root cap development. We hypothesized these docs1 root phenotypes may affect gravity responses. As expected, in seedlings, the early gravitropic response was delayed. Furthermore, at adult stage, the root gravitropic set angle of docs1 mutants was also affected since docs1 mutant plants displayed larger root cone angles. CONCLUSIONS: All these observations add new insights into the DOCS1 gene function in gravitropic responses at several stages of plant development.

3.
Cell Death Differ ; 23(12): 1973-1984, 2016 12.
Article in English | MEDLINE | ID: mdl-27447114

ABSTRACT

Chromosomal abnormalities are implicated in a substantial number of human developmental syndromes, but for many such disorders little is known about the causative genes. The recently described 1q41q42 microdeletion syndrome is characterized by characteristic dysmorphic features, intellectual disability and brain morphological abnormalities, but the precise genetic basis for these abnormalities remains unknown. Here, our detailed analysis of the genetic abnormalities of 1q41q42 microdeletion cases identified TP53BP2, which encodes apoptosis-stimulating protein of p53 2 (ASPP2), as a candidate gene for brain abnormalities. Consistent with this, Trp53bp2-deficient mice show dilation of lateral ventricles resembling the phenotype of 1q41q42 microdeletion patients. Trp53bp2 deficiency causes 100% neonatal lethality in the C57BL/6 background associated with a high incidence of neural tube defects and a range of developmental abnormalities such as congenital heart defects, coloboma, microphthalmia, urogenital and craniofacial abnormalities. Interestingly, abnormalities show a high degree of overlap with 1q41q42 microdeletion-associated abnormalities. These findings identify TP53BP2 as a strong candidate causative gene for central nervous system (CNS) defects in 1q41q42 microdeletion syndrome, and open new avenues for investigation of the mechanisms underlying CNS abnormalities.


Subject(s)
Apoptosis Regulatory Proteins/deficiency , Chromosome Deletion , Tumor Suppressor Proteins/deficiency , Animals , Apoptosis Regulatory Proteins/metabolism , Brain/abnormalities , Brain/pathology , Embryo, Mammalian/abnormalities , Embryo, Mammalian/pathology , Female , Gene Deletion , Heart Ventricles/abnormalities , Heart Ventricles/pathology , Magnetic Resonance Imaging , Mice, Inbred BALB C , Mice, Inbred C57BL , Neural Tube Defects/pathology , Phenotype , Syndrome , Tumor Suppressor Proteins/metabolism
4.
Ann Biomed Eng ; 43(1): 154-67, 2015 Jan.
Article in English | MEDLINE | ID: mdl-25118668

ABSTRACT

Validation studies are prerequisites for computational fluid dynamics (CFD) simulations to be accepted as part of clinical decision-making. This paper reports on the 2011 edition of the Virtual Intracranial Stenting Challenge. The challenge aimed to assess the reproducibility with which research groups can simulate the velocity field in an intracranial aneurysm, both untreated and treated with five different configurations of high-porosity stents. Particle imaging velocimetry (PIV) measurements were obtained to validate the untreated velocity field. Six participants, totaling three CFD solvers, were provided with surface meshes of the vascular geometry and the deployed stent geometries, and flow rate boundary conditions for all inlets and outlets. As output, they were invited to submit an abstract to the 8th International Interdisciplinary Cerebrovascular Symposium 2011 (ICS'11), outlining their methods and giving their interpretation of the performance of each stent configuration. After the challenge, all CFD solutions were collected and analyzed. To quantitatively analyze the data, we calculated the root-mean-square error (RMSE) over uniformly distributed nodes on a plane slicing the main flow jet along its axis and normalized it with the maximum velocity on the slice of the untreated case (NRMSE). Good agreement was found between CFD and PIV with a NRMSE of 7.28%. Excellent agreement was found between CFD solutions, both untreated and treated. The maximum difference between any two groups (along a line perpendicular to the main flow jet) was 4.0 mm/s, i.e. 4.1% of the maximum velocity of the untreated case, and the average NRMSE was 0.47% (range 0.28-1.03%). In conclusion, given geometry and flow rates, research groups can accurately simulate the velocity field inside an intracranial aneurysm-as assessed by comparison with in vitro measurements-and find excellent agreement on the hemodynamic effect of different stent configurations.


Subject(s)
Hydrodynamics , Intracranial Aneurysm/physiopathology , Patient-Specific Modeling , Stents , Cerebrovascular Circulation , Computer Simulation , Hemodynamics , Humans , Reproducibility of Results
5.
Neuromuscul Disord ; 16(5): 329-33, 2006 May.
Article in English | MEDLINE | ID: mdl-16621558

ABSTRACT

We report on a 15-year-old patient who was diagnosed with congenital myasthenic syndrome (CMS) at the age of 7 months. At initial diagnosis, the CMS was not further characterized. The patient was treated for several years with the anticholinesterase drug (Mestinon), without clinical benefit. The patient deteriorated progressively and became dependent on home nocturnal ventilatory support, being unable to take part in daily life activities at age of 12 years. At age 14, the slow-channel syndrome mutation CHRNE L269F (805C>T) was detected and acetylcholinesterase inhibitor therapy was immediately stopped. Fluoxetine therapy was started and gradually increased over 2 months. The boy improved dramatically in strength and endurance and was taken off ventilatory support 1 month after the fluoxetine therapy was initiated. The clinical improvement was confirmed by functional respiratory and electrophysiological tests.


Subject(s)
Fluoxetine/administration & dosage , Mutation/genetics , Myasthenic Syndromes, Congenital/drug therapy , Myasthenic Syndromes, Congenital/genetics , Receptors, Nicotinic/genetics , Selective Serotonin Reuptake Inhibitors/administration & dosage , Adolescent , Cholinesterase Inhibitors/adverse effects , DNA Mutational Analysis , Dose-Response Relationship, Drug , Drug Administration Schedule , Genetic Predisposition to Disease/genetics , Humans , Male , Muscle, Skeletal/innervation , Muscle, Skeletal/pathology , Muscle, Skeletal/physiopathology , Myasthenic Syndromes, Congenital/diagnosis , Neuromuscular Junction/drug effects , Neuromuscular Junction/metabolism , Neuromuscular Junction/physiopathology , Receptors, Cholinergic/drug effects , Receptors, Cholinergic/genetics , Receptors, Cholinergic/metabolism , Recovery of Function/drug effects , Recovery of Function/genetics , Time , Treatment Outcome
6.
Rev. esp. pediatr. (Ed. impr.) ; 60(5): 355-358, sept. 2004. graf
Article in Es | IBECS | ID: ibc-37760

ABSTRACT

La neurofibromatosis tipo 1 o enfermedad de Von Rechlinhausen es la más común de los síndromes neurocutáneos. Para el diagnóstico se precisan dos de los siguientes criterios: manchas café con leche, nódulos de Lisch, pecas axilares (freckling), glioma de nervio óptico, lesiones óseas y familiares afectos de primer grado. Se hereda de forma autosómica dominante, siendo frecuentes las mutaciones espontáneas. Objetivos.- Evaluar la incidencia de los criterios diagnósticos y otras manifestaciones clínicas.- Relacionar anomalías en la neuroimagen con el desarrollo psicomotor. Material y métodos. Hemos realizado un estudio retrospectivo de 126 pacientes, con neurofibromatosis tipo 1 en los últimos años. Evaluamos la incidencia de los criterios diagnósticos y otras manifestaciones clínicas. Resultados. La neuroimagen fue normal en el 59 por ciento de los casos. Las anormalidades más frecuentes fueron áreas hiperintensas en T2 en ganglios basales, tronco cerebral y cerebelo, la mayoría de ellas asintomáticas: Conclusiones. Nuestra serie revela una baja incidencia de manifestaciones clínicas. No se encontró correlación entre zonas de gliosis en la neuroimagen y las anomalías del desarrollo psicomotor. Los PEVs han demostrado ser útiles en el seguimiento de la dysfunctón de la vía óptica (AU)


Subject(s)
Adolescent , Female , Child, Preschool , Infant , Male , Child , Humans , Neurofibromatosis 1/complications , Retrospective Studies , Psychomotor Performance , Cafe-au-Lait Spots/etiology , Optic Nerve Glioma/etiology , Evoked Potentials, Visual
7.
Rev Neurol ; 38(11): 1023-7, 2004.
Article in Spanish | MEDLINE | ID: mdl-15202078

ABSTRACT

INTRODUCTION: The syndrome of chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial disease characterized by ptosis and ophthalmoplegia has that has been associated to the presence of large deletion, single or multiple, in the mitochondrial DNA of skeletal muscle. CASE REPORT: We report a familiar case of chronic progressive external ophthalmoplegia of maternal inheritance that began at birth, and developed with slow progression but with no multisystemic involvement. Non of the affected individuals had ragged-red fibers in skeletal muscle. Genetic analysis of mitochondrial DNA revealed the presence of a single deletion of 4,977 bp that encompasses the nucleotide positions 8,482 to 13,460, flanked by a direct repeat sequence. CONCLUSIONS: The amount of deleted mitochondrial DNA (15%) in this patient's muscle suggests, even if the percentage of the mutation is low, that this deletion is the molecular cause of the phenotypic presentation of this patient. This is one of the few cases described in the literature of CPEO maternally inherited.


Subject(s)
DNA, Mitochondrial , Mitochondria, Muscle , Ophthalmoplegia, Chronic Progressive External/physiopathology , Adolescent , Adult , Child , Child, Preschool , Disease Progression , Humans , Infant , Infant, Newborn , Muscle, Skeletal/cytology , Muscle, Skeletal/metabolism , Mutation , Ophthalmoplegia, Chronic Progressive External/diagnosis , Sequence Deletion
8.
Rev Neurol ; 35(5): 425-9, 2002.
Article in Spanish | MEDLINE | ID: mdl-12373673

ABSTRACT

INTRODUCTION: Angelman syndrome (AS) is characterised by mental retardation, ataxic gait, epilepsy, absence of language and a special series of physical traits behavioural phenotype. Its incidence is estimated as one in every 20,000 individuals. On the basis of discoveries made in molecular biology, patients can be classified as belonging to five types: deletion, paternal uniparental disomy (UPD), imprinting defects, mutation of the UBE3A ubiquitin protein ligase gene and unidentified mechanism (15% 20% of patients). Some studies report significant correlations between the phenotype and the genetic cause. PATIENTS AND METHODS: We reviewed, retrospectively, 37 patients suffering from AS with a positive genetic study and who had been controlled for at least two years in the Neurological Service at the Hospital Sant Joan de D u. Data was collected on physical characteristics, behavioural phenotype, type of communication, sleep disorders and the medication they needed, as well as epilepsy, start age, types of seizures, medication, schooling and social integration. RESULTS: 87% of cases were due to de novo deletion, 8% were caused by UPD, and 5% had their origins in imprinting defects. The average age of diagnosis was 6.5 years. The sleep disorders present in 48% of the patients required medication in 67% of cases, and 95% presented epilepsy. The most frequent seizures were myoclonic, tonic clonic and atonic. The electroencephalogram (EEG) was the characteristic found in the AS in 68%. The most effective treatment was afforded by valproate and clonazepam. CONCLUSIONS: As regards the phenotype, no differences were found according to the genetic alteration. The most effective treatment for the sleep disorders was melatonin. Epilepsy was an almost constant finding in our series, as was cognitive affectation. Lastly, it must be pointed out that educational and socio occupational integration is difficult for patients suffering from AS.


Subject(s)
Angelman Syndrome/diagnosis , Angelman Syndrome/genetics , Adolescent , Adult , Child , Child, Preschool , Female , Humans , Infant , Male , Phenotype , Retrospective Studies
9.
Rev Neurol ; 35(2): 119-23, 2002.
Article in Spanish | MEDLINE | ID: mdl-12221621

ABSTRACT

INTRODUCTION: Juvenile myasthenia gravis (JMG) is an infrequent autoimmune disease, the symptoms and therapeutic handling of which do not differ from those of the adult forms. Chronic treatment with corticoids very often causes side effects in childhood, which is why patients are being submitted to thymectomies at younger ages with better results. AIMS. To analyse the clinical and evolutionary profile of JMG treated by thymectomy in our centre. PATIENTS AND METHODS: We report the case of four girls aged between 5 and 13 who were diagnosed as suffering from generalised myasthenia gravis (MG) with bulbar affectation. One of them started with a myasthenic crisis. The four of them were submitted to Tensilon s test, an electrophysiological study, determination of AChR, thoracic CT, and study of autoimmunity and thyroid functioning. After surgery the thymus was analysed histologically. RESULTS: They all gave positive in Tensilon s test and were seropositive for AChR. They were treated with anticholinesterases, up to the maximum tolerated dose, and corticoids, without complete remission being accomplished and so they were submitted to a thymectomy in the first year of evolution. In three cases surgical approach was transsternal and in the other by means of a videothoracoscope. All the thymuses showed lymphoid hyperplasia. After a variable follow up the girls are at present asymptomatic, although none of them has been able to completely give up the pharmacological treatment. CONCLUSIONS: Thymectomy is one of the mainstays of treatment for JMG. The ever more frequent use of videothoracoscopic techniques achieves results that are similar to those obtained by conventional surgery but with fewer post operative and aesthetic problems


Subject(s)
Myasthenia Gravis/surgery , Thymus Gland/surgery , Adolescent , Child , Child, Preschool , Chronic Disease , Female , Humans , Male
10.
Rev. neurol. (Ed. impr.) ; 35(2): 119-123, 16 jul., 2002.
Article in Es | IBECS | ID: ibc-22139

ABSTRACT

Introducción. La miastenia grave juvenil (MGJ) es una enfermedad autoinmune infrecuente, cuya clínica y manejo terapéutico no difiere de las formas del adulto. El tratamiento crónico con corticoides provoca, con gran frecuencia, efectos adversos en la infancia, por lo que se recurre a la timectomía cada vez a edades más tempranas y con mejores resultados. Objetivos. Analizar el perfil clínico y evolutivo de la MGJ tratada mediante timectomía en nuestro centro. Pacientes y métodos. Presentamos cuatro niñas, de edades comprendidas entre los 5 y los 13 años, diagnosticadas de miastenia grave generalizada con afectación bulbar. Una de ellas debutó con una crisis miasténica. En todas se realizó: test de Tensilon, estudio electrofisiológico, determinación de AChR, TAC torácica y estudio de autoinmunidad y función tiroidea. Tras la cirugía, el timo se analizó histológicamente. Resultados. Todas presentaron un test de Tensilon positivo y seropositividad para AChR. Recibieron trata miento con anticolinesterásicos, hasta la dosis máxima tolerada, y corticoides, sin llegar a remisión completa, por lo que se timectomizaron en el primer año de evolución. En tres casos se realizó un abordaje transesternal y en uno por videotoracoscopia. Todos los timos mostraron hiperplasia linfoide. Tras un seguimiento variable, las niñas se encuentran actualmente asintomáticas, aunque ninguna ha podido abandonar completamente el tratamiento farmacológico. Conclusiones. La timectomía es uno de los pilares del tratamiento de la MGJ. La utilización cada vez más frecuente de la videotoracoscopia consigue resultados similares a los de la cirugía convencional, con menos problemas postoperatorios y estéticos (AU)


Subject(s)
Child , Child, Preschool , Adolescent , Male , Female , Humans , Thymus Gland , Myasthenia Gravis , Chronic Disease
12.
Rev. neurol. (Ed. impr.) ; 33(11): 1010-1014, 1 dic., 2001.
Article in Es | IBECS | ID: ibc-27289

ABSTRACT

Introducción. La dieta cetógena comenzó a utilizarse en la epilepsia refractaria de la infancia a principios de los años 20; olvidada por la aparición de los nuevos antiepilépticos, comienza a resurgir en los últimos años. Aunque su eficacia en el control de la epilepsia, en algunos pacientes, está más que comprobada, su mecanismo de acción sigue siendo una incógnita. Existen tres tipos de dietas: la `clásica' con proporción 4:1 de grasas saturadas de cadena larga; con aceite MCT y dieta con MCT modificada. Objetivo. Presentar el protocolo realizado recientemente en nuestro hospital, el tipo de dieta, forma de inicio y controles posteriores de las complicaciones, así como la respuesta clínica, electroencefalográfica y efectos secundarios observados en los pacientes. Pacientes y métodos.Introducción de la dieta cetógena con aceite MCT en 6 pacientes de entre 2 y 11 años, con varios tipos de epilepsia, todas ellas refractarias al tratamiento, con un período de tratamiento de 28 meses en un paciente y entre 4 y 6 meses en el resto. Evaluamos la respuesta con los criterios clínicos de Huttenlocher y electroencefalográficos de Panico. Resultados. Dos de los paciente presentaron un buen control de las crisis con normalización del EEG. No observamos efectos secundarios graves, únicamente gastrointestinales que se controlaron con reducción de la cantidad de aceite MCT. Conclusiones. En pacientes con epilepsia farmacorresistente es importante disponer de un protocolo de tratamiento mediante la dieta cetógena; es asimismo conveniente el manejo con un equipo multidisciplinario, el control de los efectos adversos tardíos y el obtener la colaboración de la familia en el seguimiento del protocolo (AU)


Subject(s)
Child, Preschool , Child , Male , Female , Humans , Dietary Fats, Unsaturated , Electroencephalography , Epilepsy
13.
Spinal Cord ; 39(5): 290-2, 2001 May.
Article in English | MEDLINE | ID: mdl-11438848

ABSTRACT

STUDY DESIGN: A case report of urethral destruction in a spinal cord injured (SCI) patient. OBJECTIVES: To report the reconstruction of the whole anterior urethra in one-stage using an epilated scrotal flap. SETTING: Institut Guttmann, Hospital de Neurorehabilitació, Barcelona, Spain. METHODS: A one-stage tubular substitution urethroplasty based on a bi-axial epilated scrotal flap design ('BAES flap') was performed successfully. RESULTS: Long-term follow-up of 6 years has confirmed the excellent adaptation of the flap to its urethral function. CONCLUSION: The bipedicle epilated scrotal flap can effectively resolve this challenging urethral pathology.


Subject(s)
Plastic Surgery Procedures/methods , Quadriplegia/complications , Scrotum/transplantation , Ureteral Obstruction/complications , Urethra/surgery , Urinary Bladder, Neurogenic/complications , Urologic Surgical Procedures/adverse effects , Follow-Up Studies , Humans , Male , Middle Aged , Necrosis , Quadriplegia/diagnosis , Surgical Flaps , Treatment Outcome , Ureteral Obstruction/diagnosis , Ureteral Obstruction/surgery , Urinary Bladder, Neurogenic/diagnosis , Urinary Bladder, Neurogenic/surgery , Urologic Surgical Procedures/methods
14.
Rev Neurol ; 33(11): 1010-4, 2001.
Article in Spanish | MEDLINE | ID: mdl-11785025

ABSTRACT

INTRODUCTION: The ketogenic diet was first used in refractory epilepsy of childhood in the early 1920s. It was forgotten when new antiepileptic drugs were introduced, but recently has been used again. Although its efficacy in the treatment of epilepsy, in some patients, is beyond doubt, its mechanism of action is still not clear. There are three types of diet: the classical diet with a proportion of 4:1 of long chain fatty acids, with MCT oil and with modified MCT oil. OBJECTIVE: To present a protocol recently designed in our hospital. We include the type of diet, form of onset, subsequent follow up of complications, clinical and electroencephalographic response and side effects seen in the patients. PATIENTS AND METHODS: Introduction of the ketogenic diet with MCT oil in six patients aged between 2 and 11 years, with various types of epilepsy, all resistant to treatment, who had been unsuccessfully treated for 28 months in one case and between 4 and 6 months in the others. We evaluated the response on the criteria of Huttenlocher and Panic electroencephalograms. RESULTS: Two of the patients improved with good control of their disorder and the EEG became normal. No serious side effects were seen apart from gastrointestinal symptoms which improved when the quantity of MCT oil was reduced. CONCLUSIONS: In patients with drug resistant epilepsy it is convenient to have a guideline for treatment using a ketogenic diet. It is also useful to have a multi disciplinary team for management, follow up to detect late side effects and obtain the cooperation of the patient s family in following the protocol.


Subject(s)
Dietary Fats, Unsaturated/administration & dosage , Epilepsy/diet therapy , Child , Child, Preschool , Electroencephalography , Female , Humans , Male
15.
Rev Neurol ; 28(1): 105-9, 1999.
Article in Spanish | MEDLINE | ID: mdl-10101777

ABSTRACT

INTRODUCTION AND OBJECTIVE: Rett syndrome was described in 1966 and became known through the English medical literature in 1983. There are typical and atypical forms. The objective of this study was to record the cases diagnosed in Spain and discover their clinical characteristics in order to describe its phenotype and geographical distribution. PATIENTS AND METHODS: We know of 207 cases and have obtained the records of 168 of these patients. A protocol and data collection programme has been developed giving the criteria for inclusion, and data which support or exclude this. Data collection was by post and the data for identification were the date of birth and the initials of the name and two surnames. With these variables, double-registering of patients was almost impossible. A statistical study with descriptive analysis and a study of continuous and alternating variables was immediately done. RESULTS AND CONCLUSION: The results gave the main characteristics, the differences between typical and atypical cases and a comparative study of variables. It has given clinical data which may be useful for prognosis of the condition in the future.


Subject(s)
Rett Syndrome/epidemiology , Adolescent , Adult , Age Distribution , Child , Child, Preschool , Female , Humans , Infant , Spain/epidemiology
16.
Rev Neurol ; 26(149): 38-42, 1998 Jan.
Article in Spanish | MEDLINE | ID: mdl-9533203

ABSTRACT

INTRODUCTION: The correct selection of pediatric patients with clinical suspicion of mitochondrial diseases is the first step to achieve a definitive diagnosis. MATERIAL AND METHODS: The results of the initial biochemical tests obtained in 35 children diagnosed of respiratory chain or pyruvate metabolism defects were reviewed. The efficiency of basal determinations (lactate, pyruvate, ketone bodies, amino and organic acids and carnitine), cerebrospinal fluid (CSF) analysis, and dynamic tests (exercise, glucose loading and glucose oxidation by lymphocytes) was discussed. RESULTS: Plasma lactate and alanine, and CSF metabolites were the most informative measurements in basal status. Urine organic acids were very useful to confirm the initial suspicion. Glucose loading was the most informative and reliable challenge test for pediatric population, while exercise test was especially useful for older children with fatigability or peripheral nervous system involvement. CONCLUSIONS: Glucose oxidation by lymphocytes might be applied when the other dynamic tests can not be performed or are not informative.


Subject(s)
Electron Transport/physiology , Pyruvate Dehydrogenase Complex Deficiency Disease/blood , Alanine/blood , Amino Acids/urine , Carnitine/blood , Child , Child, Preschool , Chromatography, Gas/methods , Citric Acid Cycle/physiology , DNA, Mitochondrial/genetics , Exercise Test , Glucose/metabolism , Humans , Ketone Bodies/blood , Lactic Acid/blood , Lymphocytes/metabolism , Patient Selection , Pyruvate Dehydrogenase Complex Deficiency Disease/cerebrospinal fluid
17.
J Urol ; 158(2): 412-20, 1997 Aug.
Article in English | MEDLINE | ID: mdl-9224314

ABSTRACT

PURPOSE: We describe a new type of perineum based scrotal flap with biaxial vascularization supplied by both superficial perineal arteries. Flap length of up to 20 cm. may be attained for urethral reconstruction. MATERIALS AND METHODS: A total of 37 men with complex urethral stenosis of different etiologies underwent surgery using 1 of 3 urethroplasty techniques based on this new flap. The whole anterior urethra, including pendulous and bulbar segments, was reconstructed with a scrotal patch in 10 patients. A scrotal tubular flap was used as a substitute for the bulbar urethra in 7 patients and for the membranous portion in 4. Bulbar urethroplasty with a scrotal island patch was performed in 16 patients. RESULTS: Of the patients 86% achieved normal voiding after 1-stage urethroplasty. Mean followup was 39.5 months. CONCLUSIONS: The excellent axial vascularization of this new flap permits successful resolution of the most complex urethral stenoses regardless of extension, location and etiology.


Subject(s)
Scrotum/transplantation , Surgical Flaps/methods , Urethral Stricture/surgery , Follow-Up Studies , Hair , Humans , Male
18.
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
19.
Clin Chim Acta ; 263(2): 147-55, 1997 Jul 25.
Article in English | MEDLINE | ID: mdl-9246419

ABSTRACT

Red blood cell tocopherol was measured in a group of 92 children with inborn errors of intermediary metabolism to evaluate the peroxidative damage in different mitochondrial and cytosolic defects, and to consider the need for treatment or vitamin supplementation. Tocopherol was determined by HPLC with UV detection. Results were expressed in nanomoles red blood cell tocopherol per gram protein. Significant differences (Mann-Whitney; P < 0.001) were found between tocopherol levels in untreated patients: 19 with mitochondrial defects versus 23 with cytosolic enzyme or transport defects, and versus 58 age-matched reference values. In conclusion, mitochondrial enzyme deficiencies, either amino and organic acidurias or defects of energy metabolism, seem to produce an excess of free radicals with the consequent utilization of tocopherol as antioxidant. This is not apparent in the cytosolic enzyme defects studied, whose tocopherol levels are in the normal range. Treatment with tocopherol completely corrects the deficient antioxidant status.


Subject(s)
Metabolism, Inborn Errors/blood , Vitamin E/blood , Adolescent , Antioxidants/metabolism , Case-Control Studies , Child , Cytosol/metabolism , Erythrocytes/metabolism , Free Radicals/metabolism , Humans , Metabolism, Inborn Errors/drug therapy , Mitochondria/metabolism , Vitamin E/therapeutic use
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