2,198 research outputs found
Mitochondrial Carbonic Anhydrase VA Deficiency in Neonatal Hyperammonemic Encephalopathy: Case Report
Hyperammonemia can be a potentially fatal disorder, secondary to several different etiologies, most
commonly urea cycle defects and organic acidurias. The deficiency of mitochondrial carbonic anhydrase
VA, a recently recognized metabolic disorder, results from abnormalities in the CA5A gene. This gene plays
an important role in ureagenesis and gluconeogenesis, resulting in a secondary deficiency of several carboxylases and presenting as neonatal hyperammonemic encephalopathy. We describe the case of an almost 5-year-old child who had neonatal encephalopathy secondary to hyperammonemia wherein carbonic
anhydrase VA deficiency was identified in him. His growth and development are normal despite no diet
or medication for several years. We report this case as fewer than 20 patients have been described in the
literature.info:eu-repo/semantics/publishedVersio
Effects of a Shortage of Imiglucerase on Three Patients with Type I Gaucher Disease
Background: Children with Gaucher disease type I (GD1) are usually treated with
enzyme replacement therapy (ERT) at a dose of 30-60U/Kg/2W. Recently, due to an
acute shortage supply of imiglucerase, a reduced dose or a reduced infusion frequency
was recommended.
Objective: To evaluate the effects of a reduced infusion frequency of imiglucerase over 15 months of follow-up.
Patients and Methods: Three patients (1M:2F) were treated with ERT since a median
age of 7 years (range 5-12). Only one had bone crisis and Erlenmeyer deformations.
Median duration of treatment before dose reduction was 3 years (range 1-8). ERT
resulted in total regression of symptoms, normalization of hematological parameters and
progressive improvement of chitotriosidase in all patients. In August 2009 infusion
schedule was changed from a media 45U/Kg every two weeks to every four weeks.
Results: All patients remained asymptomatic and with no major change on hematological parameters except for the patient with bone crisis who presented subnormal platelet count. All patients showed an upward trend in chitotriosidase values.
Comments: Although a longer follow-up is needed, is probable that even children
completely stabilized can probably not be kept on lower doses even though the
reduction of frequency of the infusions represent a lower social burden
Early Infantil Krabbe Disease with Unusual Survival
Introduction: Globoid cell leukodystrophy (Krabbe disease) is caused by a deficiency
of the lysosomal galactocerebrosidase that results in progressive demyelination. The
sole treatment is hematopoietic cell transplantation, which is only effective if performed before the onset of signs. In the absence of treatment, most children with early infantile Krabbe disease die within 2 years.
Case Report: Female patient, first child of non-consanguineous parents, apparently
normal till the fifth month of age when she presented with irritability, stiffness with
clenched fists, developmental delay and feeding difficulties that progressed rapidly to failure to thrive, apathy, psychomotor regression, few spontaneous movements and
spastic tetraparesis. Cerebral MRI showed extensive cerebral white matter
abnormalities, relatively sparing the U-fibers, with a pattern of radiating stripes.
Galactocerebrosidase activity in leukocytes and fibroblasts and molecular studies
confirmed the diagnosis of Krabbe disease. After the rapid and regressive initial phase,
she showed no further clinical progression of the disorder and although she did not
grow she even showed regression of irritability and had a stable evolution and good visual contact until death over the age of 5 years.
Comments: Our case shows that patients may have a stabilized form of disease and that
a longer survival than described in the literature without transplant is possible in some patients
Local interpretations on malaria and the discourse on the traditional health care providers in southern Mozambique
The narratives on the diagnosis and causes of malaria are diverse and apparently ambiguous, being based beyond the body, on the social relations among peers, their ancestors, and nature. Based on a qualitative study and a four-year stay in Mozambique, this article analyzes the discourses of patients and biomedical practitioners on traditional health care providers, i.e., tinyanga and zion pastors, linking them to local terminology of malaria, in a rural district in southern Mozambique. In the current context of therapeutic pluralism and high mobility, the lack of solidarity and compassion attributed to tinyanga is supported by the monetization and commodification of their medicinal rituals and knowledge, as well as by competition with other providers in attracting patients. The implementation of zion churches, of Christian nature and performing therapeutic practices similar to tinyanga, is presented as a local advantageous solution due to the strong community connection, the comfort and reciprocity among the members, and the therapeutic results at low cost. In terms of health care policies and clinical practice, the invisibility of zion pastors and the subordinate role of healers is managed according to interests, based on vague ideas and prejudices from biomedical providers. The implementation of health policies that address the local diversity, the existing power relations and medical knowledge and practices can strengthen the biomedical care services and harmonize relations between the providers and the population.info:eu-repo/semantics/publishedVersio
Primary Disorders of Neurotransmitter Metabolism: Experience of a Tertiary Center
Neurotransmitter diseases are a group of inherited disorders attributable
to a disturbance of neurotransmitter metabolism. Biogenic amines are neurotransmitters with multiple roles including psychomotor function, hormone secretion, cardiovascular, respiratory and gastrointestinal control, sleep mechanisms, body temperature and pain.
Given the multiple functions of monoamines, disorders of their metabolism comprise a
wide spectrum of manifestations, with motor dysfunction being the most prominent
clinical feature.
Methods: Case review of 12 patients from 4 families, with primary disorders of
biogenic amine metabolism.
Results: Aromatic L-amino acid decarboxylase deficiency (4 patients from 2 families),
and GTP-cyclohydrolase (8 patients from 2 families) were the two diseases identified.
Age at first symptoms varied between 2 months and 6 years. Developmental delay was
present in all cases except 2 patients with GTP cyclohydrolase deficiency. The
combination of axial hypotonia and limb dystonia was also frequent. Children with
aromatic L-amino acid decarboxylase deficiency exhibited temperature instability,
oculogyric crisis and disturbances of sleep. The index case of one family with GTP
cyclohydrolase deficiency presented with Parkinsonism (bradykinesia, rigidity and
hypomimia). Analysis of neurotransmitters and their metabolites in CSF was crucial for
the identification of index cases. Response to therapy was variable but in general
unsatisfactory except in a family with GTP cyclohydrolase deficiency.
Conclusions: These disorders should be considered in the differential diagnosis of
paediatric neurodegenerative diseases, in order to allow an adequate therapeutic trial
that can favor prognosis
Spastic Paraparesis and Sensorineural Hearing Loss: Keep Brucellosis in Mind
info:eu-repo/semantics/publishedVersio
Molybdenum Cofactor Deficiency. A Differential Diagnosis in a Newborn with Seizures
Descrevemos um lactente com doença neurológica grave caracterizada
por convulsões mioclónicas e tónicas, com início no período neonatal, refractárias a vários anticonvulsivantes, assim como,
tetraparésia espástica. A tomografia computorizada e a ressonância magnética cerebrais evidenciaram imagens de leucomalácia periventricular e, posteriormente, de atrofia cerebral progressiva e encefalomalácia quística.
Os exames bioquímicos e o estudo da actividade enzimática permitiram
o diagnóstico de défice do cofactor molibdénio. O défice do cofactor molibdénio é uma doença rara, autossómica
recessiva, que se comporta como um défice combinado da sulfito oxidase e da xantina desidrogenase (ou xantina oxidase) alterando o metabolismo das purinas e da cisteína. A terapêutica é controversa
e o prognóstico reservado. O nosso objectivo é relembrar esta patologia no diagnóstico diferencial das convulsões neonatais e da encefalopatia hipóxico-
-isquémica, sobretudo quando os exames imagiológicos sugerem lesões de leucomalácia no recém-nascido de termo.
Salientamos a importância deste diagnóstico diferencial, apesar
do prognóstico pobre, devido à possibilidade de aconselhamento genético adequado e diagnóstico pré-natal
The effect of progressive aerobic, resistance and stretching exercise combined with education on body weight among breast cancer survivors
Abstract in proceedings of the Fourth International Congress of CiiEM: Health, Well-Being and Ageing in the 21st Century, held at Egas Moniz’ University Campus in Monte de Caparica, Almada, from 3–5 June 2019.This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.info:eu-repo/semantics/publishedVersio
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