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1

Schindler disease: the molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy.  

UK PubMed Central (United Kingdom)

Schindler disease is a recently recognized infantile neuroaxonal dystrophy resulting from the deficient activity of the lysosomal hydrolase, alpha-N-acetylgalctosaminidase (alpha-GalNAc). The recent...Full Text Available

1990-11-01

3

Congenital Lobar Emphysema  

UK PubMed Central (United Kingdom)

SummaryCongenital lobar emphysema (CLE) characterized by over distension and air-trapping in the affected lobe is one of the causes of infantile respiratory distress requiring...Full Text Available

2009-08-01

4

The value of cardiac catheterization and cineangiography in infantile lobar emphysema  

International Nuclear Information System (INIS)

Lobar emphysema is an uncommon cause of respiratory distress in infancy. Congenital heart disease is seen in about 20% of the patients with infantile (congenital) lobar emphysema. We described six infants with lobar emphysema. In three of them a congenital heart disease was demonstrated by cardiac catheterization and cineangiography; two had a tetralogy of Fallot with right aortic arch and the third infant a ventricular septal defect. The pulmonary angiography showed stretching of the arteries with very poor filling of the peripheral arteries and a characteristic smaller pulmonary vein in the affected lobe. In all the six patients the pulmonary artery pressure was normal. All the patients underwent lobectomy with good results. We feel that a preoperative cardiac catheterization and cineangiography is of value in this very sick group of infants. (orig.).

5

Prolonged exclusive breast feeding and heredity as determinants in infantile atopy.  

UK PubMed Central (United Kingdom)

We followed 183 infants for two years, 31 of whom were breast fed less than three and a half months (median 70 days; short breast feeding group) and a further 31 of whom were exclusively breast fed...Full Text Available

1987-03-01

6

Enzymatic activity of the cellulolytic complex produced by Trichoderma reesei. Enzymatic hydrolysis of cellulose; Actividad enzimatica del complejo celulolitico producido por Trichoderma reesei. Hidrolisis enzimatica de la celulosa  

Energy Technology Data Exchange (ETDEWEB)

The enzymatic activity characterization of the cellulolytic complex obtained from Trichoderma reesei QM 9414 and the influence of the enzymatic hydrolysis conditions on the hydrolysis yield are studied. Pure cellulose and native or alkali pretreated biomass Onopordum nervosum have been used as substrates. The values of pH, temperature, substrate concentration and enzyme-substrate ratio for the optimum activity of that complex, evaluated as glucose and reducing sugars production, have been selected. Previous studies on enzymatic hydrolysis of 0. nervosum have shown a remarkable effect of the alkaline pretreatments on the final hydrolysis yield. (Author) 10 refs.

1986-07-01

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Evaluation of home-made teas efficiency from medicinal plants used on childish diarrhea treatment; Avaliacao da eficacia de chas caseiros de plantas medicinais utilizados no tratamento da diarreia infantil  

Energy Technology Data Exchange (ETDEWEB)

The objective of this work is to verify whether the home-made teas form Brazilian plants, used for control of childish diarrhea have been efficient reaching the composition recommended by World Health Organizations (WHO). This work has been carried out using the neutron activation analysis and the TRIGA MARK I reactor, the IPR-R1, in the Centro de Desenvolvimento da Tecnologia Nuclear - CDTN. (author). 4 refs., 2 tabs.

1996-03-01

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Ionospheric response to the phenomena occurring below and above it: a summary  

Energy Technology Data Exchange (ETDEWEB)

Some of well known F{sub 2} layer anomalies might have their origin in lower atmosphere and some have extra terrestrial sources. It has been suggested that the phenomena occurring below the ionosphere such as thunderstorms, lightning/sprites, volcanic eruptions and earthquakes and above the phenomena like corona mass ejection, solar flares and extra terrestrial events may produce F{sub 2} layer signatures. In the present paper we have tried to summarize the effect of some phenomena occurring below the ionosphere like thunderstorms, lightning/sprites and seismic activity and the phenomena such as solar flares which occur above the ionosphere, on the ionospheric electron and ion temperatures. The paper also discusses possibilities. The ionospheric electron and ion temperatures were measured by the RrPAa payload aboard the Iindian SRrOSS-C2 satellite. The normal day's ion and electron temperatures have been compared to the temperatures recorded during the disturbed day. The ...

2009-01-15

9

Importance of the planning activities, cutting, handling and analysis of the nuclei of oil well drilling; Importancia de las actividades de planificacion, corte, manejo y analisis de los nucleos de perforacion de pozos petroleros  

Energy Technology Data Exchange (ETDEWEB)

In the geologic formation where the oil deposits are located, diverse types of rocks perform functions as structural elements, storage containers for hydrocarbon water and calorific energy, as well as impermeable barriers and transport means of the energy and the fluids. Among the most important properties that are used to describe these functions are the porosity, the permeability, the compressibility of the pores volume, the formation resistivity factor, the saturation exponent, the velocity of acoustic waves P and S, the relative permeability, the capillary pressures, the elastic constants and other mechanical properties, the thermal expansion, coefficient, the thermal conductivity, the thermal diffusivity and the specific heat. The execution of an ample variety of activities related to the stages of exploration, location, evaluation and development of the oil deposits, depends strongly on having a good knowledge of the magnitude and the spatial variability of these properties. The ...

2007-07-01

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The new WHO classification of brain tumors. Radiological aspects of 4 new tumor entities; Die revidierte WHO-Klassifikation der Hirntumoren. Radiologische Aspekte unter besonderer Beruecksichtigung von vier neuen Tumorentitaeten  

Energy Technology Data Exchange (ETDEWEB)

Characterisation of the classification of brain tumours authorised by the WHO. Method of appraisal: This classification was revised and published in its second version. In the revision, some tumours were regrouped histogenetically and some tumour variants were added. Radiologically relevant changes of the classification include the differentiation of four new tumour entities that are easily distinguished by MR imaging. These four tumours belong to the group of childhood tumours or tumours occurring in early adulthood and are characterized by a good prognosis after extirpation. Results of appraisal: Central neurocytomas are small-cyst ventricular tumours associated with the foramen of Monroi and show moderate contrast enhancement. Infantile desmoplastic gangliogliomas/astrocytomas commonly consist of a solid tumour portion related to the leptomeninges with pronounced contrast enhancement and a typically very large cyst. Pleomorphic xanthostrocytomas are ...

1997-06-01

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Sudden infant death syndrome and placental disorders: the thyroid-selenium link.  

Science.gov (United States)

Placental insufficiency, inducing hypoxia-ischaemia, is considered a major cause of neuronal injury and impaired post natal development. Placental insufficiency alters the metabolism of arachidonic acid and its oxidation products. Premature labour and low-birth-weight infants are associated with reduced intrauterine blood-flow and infections of the reproductive tract. Thyroidal activity is depressed in undernutrition (placental insufficiency). Premature infants require extra vitamin C for normal tyrosine metabolism (tyrosine is the thyroxine precursor). Among the symptoms indicating infantile cretinism, which appear during 3-5 months of age are: delayed union of skull bones, torpid behaviour, slow feeding, cyanosis during feeding, excessive sleepiness, enlarged tongue, umbilical herniation, flabby musculature, short stature and delayed development. These symptoms have all been described in low-birth-weight infants and sudden infant death syndrome victims by various ...

1997-04-01

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Pyridoxine dependent epilepsy and antiquitin deficiency Clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up.  

Science.gov (United States)

Antiquitin (ATQ) deficiency is the main cause of pyridoxine dependent epilepsy characterized by early onset epileptic encephalopathy responsive to large dosages of pyridoxine. Despite seizure control most patients have intellectual disability. Folinic acid responsive seizures (FARS) are genetically identical to ATQ deficiency. ATQ functions as an aldehyde dehydrogenase (ALDH7A1) in the lysine degradation pathway. Its deficiency results in accumulation of ?-aminoadipic semialdehyde (AASA), piperideine-6-carboxylate (P6C) and pipecolic acid, which serve as diagnostic markers in urine, plasma, and CSF. To interrupt seizures a dose of 100mg of pyridoxine-HCl is given intravenously, or orally/enterally with 30mg/kg/day. First administration may result in respiratory arrest in responders, and thus treatment should be performed with support of respiratory management. To make sure that late and masked response is not missed, treatment with oral/enteral pyridoxine should be continued until ATQ ...

2011-05-24

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Computerized tomography and head growth curve infantile macrocephaly with normal psychomotor development  

Energy Technology Data Exchange (ETDEWEB)

Macrocephaly was defined as a head measuring larger than 98th percentile. We have evaluated CT findings and head growth curves in 25 infants with large heads. Ten (40%) of 25 infants with large heads were normal developmentally and neurologically. Five (20%) of those were mentally retarded. The other 10 infants (40%) included hydrocephalus (4 cases), malformation syndrome (3 cases), brain tumor (1 case), metabolic disorder (1 case) and degenerative disorder (1 case). Their head growth curves were typed as (I), (II) and (III): Type (I) (excessive head growth curve to 2 SDs above normal); Type (II) (head growth curve gradually approached to 2 SDs above normal); Type (III) (head growth curve parallel to 2 SDs above normal). Ten of macrocephaly with normal psychomotor development were studied clinically and radiologically in details. They were all male. CT pictures of those showed normal or various abnormal findings: ventricular dilatations, wide frontal and temporal subdural spaces, wide ...

1982-01-01

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Fifteen years of seismic monitoring at the Las Tres Virgenes, BCS, geothermal field; Quince anos de monitoreo sismico en el campo geotermico de Las Tres Virgenes, BCS  

Energy Technology Data Exchange (ETDEWEB)

Seismic monitoring at the Las Tres Virgenes, BCS, geothermal field started in 1992 with an analog station of vertical components detecting a large number of earthquakes of varying magnitudes. In February 1993, a seismic network was installed, composed of six digital stations DR-2000-with S-6000 and S-5000 sensors and three registration channels (N-S, E-W and vertical). This was the basis for the development of a program to correct arrival-time data for P and S waves due to instrument drift. From January to April 1994 and May to August 1995, based on the 170 seismic events recorded, a velocity model was proposed. From December 1995 to July 1996, seismic data were processed and interpreted, and zones of occurrence were determined for events according to magnitude and the predominant noise in the field. From September 2003 to December 2004, 10 seismic stations (permanent and temporary) were installed and monitored and it was concluded the most active fault system was El Volcan. From ...

2009-07-15