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Tyrosinaemia type Ia without excess of urinary succinylacetone
No full textTyrosinaemia type I (McKusick 276700) (Kvittingen 1991) is an autosomal recessively
inherited metabolic disorder due to two enzymatic deficiencies: fumarylacetoacetase
(FAH) (type Ia) and maleylacetoacetate isomerase (type Ib) (Berger et al 1988).
Elevation of urinary succinylacetone (SA) is usually deemed to be specific for
tyrosinaemia type I. Diagnosis is made by assessing plasma tyrosine levels and
urinary SA and by determining the activity of FAH in fibroblasts or lymphocytes.
We report the case of a 3-year-old female child affected by tyrosinaemia type Ia, with
persistent low levels of plasma tyrosine and no excess of urinary SA.
Maria M. was born to first-degree cousins; the postnatal period is reported as
uneventful. At 7 months of age hepatomegaly was noted and the child was hospitalized.
At that time plasma tyrosine was slightly elevated (425 #mol/L by ion exchange
chromatography), with moderate tyrosinuria. No excess of SA was detectable in urine
by GC-MS. c~-Fetoprotein serum level was > 300 IU/ml. Liver ultrasound and CT
scans showed hepatomegaly and multifocal micronodular structural abnormalities.
Tyrosinaemia type I was then suspected despite the absence of SA and a dietary
regimen with low phenylalanine and tyrosine intake (25mg/kg per day) wasintroduced. One month later, plasma tyrosine level was in the normal range
(100/~mol/L).
The clinical picture has always been good, including adequate psychomotor
development, except for a marked hepatomegaly (4 cm below the costal arch); plasma
tyrosine was steadily below l l0/tmol/L with only a slight elevation of plasma
methionine; a major biochemical abnormality was c~-fetoprotein 4232 IU/ml (normal
0.01-7.00). On the basis of the good metabolic control, diet was then progressively
relaxed in order to assess her dietary tyrosine tolerance (up to 100mg/kg per day).
Plasma tyrosine levels remained constantly below 160 #mol/L, even 3 h after a meal.
Urinary SA was still absent. Tyrosinaemia was then monitored for 1 year on a
relaxed diet, being continuously below l l0#mol/L even after a protein load test
providing 100mg/kg body weight, with no detectable urinary SA and only slight
increase of 6-aminolaevulinic acid (600 ~mol/L; normal < 500/~mol/L). Hepatomegaly
was the only clinical abnormality ever reported. The child stayed on a relaxed diet
until the diagnosis of tyrosinaemia type Ia was confirmed by enzymatic activity
determination on cultured skin fibroblasts (FAH 0.19nmol/min per mg protein;
normal 0.67) performed at Professor R. Berger's Metabolic Laboratory, Wilhelmina
Kinderziekenhuis, Utrecht.
In the meantime her younger sister, aged 2 months, was admitted to another centre
for recurrent vomiting, diarrhoea and jaundice. She had hepatomegaly (4 cm below
costal arch) and elevation of serum total and conjugated bilirubin, ammonia, AST
and ALT. Plasma tyrosine was 510#mol/L. In 24h her clinical picture worsened
acutely with occurrence of seizures, dyspnoea, cyanosis and haematemesis, until
death. Post-mortem liver histology showed a diffuse cirrhosis and features suggestive
of tyrosinaemia type I.
Maria was referred again to our department for progressive restriction of the
dietary tyrosine intake. At that time liver ultrasound scan showed no modification
of the previous picture of cirrhosis. Serum c~-fetoprotein level was 795 IU/ml.
Three months later she remained in very good clinical condition, with adequate
psychomotor development; plasma tyrosine was 70#mol/L and urinary SA still
present in undetectable or trace amounts.
We report this case of tyrosinaemia type Ia to encourage consideration of this
disease even when the biochemical picture is not properly suggestive of it. Furthermore,
the family history confirms the possible occurrence of acute and chronic forms of this
disease in one family. Also, we believe that it demonstrates that no biochemical
parameter by itself is pathognomonic for this disease, and that any slight elevation
of plasma tyrosine levels even without SA urinary excess is worth further investigatio
Aggiornamento sulla standardizzazione e l'interpretazione della spirometria nell'adulto e in età pediatrica per lo specialista in Allergologia ed Immunologia Clinica
No full textThe specialist in Allergy and Clinical Immunology is frequently involved in the diagnosis, treatment and follow-up of Respiratory Diseases. For this reason this specialist has to know the indications of Spirometry and the limits of Office Spirometry. This means to know when Lung Volumes and CO Diffusion Capacity are to be measured and to be able to obtain a clinical interpretation of the results. Therefore the target of this short review is to provide the specialist in Allergy and Clinical Immunology with the basis for evaluating the quality of Office Spirometry and interpreting its results, as stated by the American Thoracic Society and European Respiratory Society Task Force in 2005. We hope that this approach would improve the interaction with the Laboratory of Respiratory Physiopathology in the management of asthma and autoimmune diseases with respiratory involvement
Il fenomeno delle Mutilazioni Genitali Femminili (MGF) : studio clinico e psicopatologico su un gruppo di immigrate in Sicilia
No full textObjective. The aim of our research work is to explore the troubles, the illness, the psychological pains related to the Female Genital Mutilations (FGM), by doing a clinical inquire on a women's group subjected to FGM, through the estimation of some zones like sexuality, strategy and defensive styles, the Milano objective. The aim of our research work is to explore the troubles, Mutilations (FGM), by doing a clinical inquire on a women's group subjected to FGM, through the estimation of some zones like sexuality, strategy and defensive styles, the level and the quality of mentalization and, consequently, the coping ability. Method. In the research we used the following instruments: Coloured Progressive Matrices by Raven; State-Trate Anxiety Inventory by Spielberger; Designed Histories by Trombini; Düss Tales; a clinical interview was on a subject composed of 20 women with first and third level mutilation. Results. The women's group, apart from the kind of mutilation suffered, use defensive strategies turned to dissociation. It could be a defensive mechanisms of extreme dissociation like splitting, denial, projective identification that harm cognitive function. Otherwise lights defensives mechanisms permit to face the traumatic event and don't stop a successive elaboration of it
Going Beyond Counting First Authors in Author Co-citation Analysis
Get PDFThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Variations on the Author
Get PDF“Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship
Appropriate Similarity Measures for Author Cocitation Analysis
Get PDFWe provide a number of new insights into the methodological discussion about author cocitation analysis. We first argue that the use of the Pearson correlation for measuring the similarity between authors’ cocitation profiles is not very satisfactory. We then discuss what kind of similarity measures may be used as an alternative to the Pearson correlation. We consider three similarity measures in particular. One is the well-known cosine. The other two similarity measures have not been used before in the bibliometric literature. Finally, we show by means of an example that our findings have a high practical relevance.information science;Pearson correlation;cosine;similarity measure;author cocitation analysis
Il trattamento delle allergopatie respiratoriein gravidanza. Sicurezza d’impiego per il feto
No full textRespiratory allergies are a common problem in pregnancy.
Asthma in pregnancy is characterized by greater clinical and
functional instability, which makes disease control very difficult
in several cases. Approximately one third of asthmatic
patients undergoes exacerbation during pregnancy, and a
mild to moderate asthma may progress to more severe stages.
Drug therapies for respiratory allergies must necessarily
take into account possible risks to the fetus, on whom - at
the same time - failure to control asthma may have negative
consequences. It was noted that the incidence of teratogenesis
induced by asthma medications is rare. However, it
is good practice to use extreme caution when administering
medicines, particularly in the first quarter. The decision
whether to use a drug which is known potentially harmful to
the fetus must be taken also on the basis of an assessment
of the benefits that would result from this practice, and of
the potential consequences if these drugs were not used. The
aim of this paper is to evaluate the safety and indications
of the different treatment options available, both for rhinitis
and asthma
Dispelling the Myths Behind First-author Citation Counts
Get PDFWe conducted a full-scale evaluative citation analysis study of scholars in the XML research field to explore just how different from each other author rankings resulting from different citation counting methods actually are, and to demonstrate the capability of emerging data and tools on the Web in supporting more realistic citation counting methods. Our results contest some common arguments for the continued
use of first-author citation counts in the evaluation of scholars, such as high correlations between author rankings by first-author citation counts and other citation
counting methods, and high costs of using more realistic citation counting methods that are not well-supported by the ISI databases. It is argued that increasingly available digital full text research papers make it possible for citation analysis studies to go beyond what the ISI databases have directly supported and to employ more
sophisticated methods
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