The porphyrias

2011 ◽  
pp. 1694-1700
Author(s):  
Michael N. Badminton ◽  
George H. Elder
Keyword(s):  
Clinical Features ◽  
Clinical Manifestation ◽  
Biosynthetic Pathway ◽  
Metabolic Diseases ◽  
Specific Pattern ◽  
Acute Porphyria ◽  
Aminolaevulinic Acid ◽  
Excess Production ◽  
Enzymatic Defect ◽  
Main Clinical Manifestation

The porphyrias are metabolic diseases resulting from deficiency, or in one disease, an increase in the activity, of specific enzymes in the haem biosynthetic pathway (1, 2). Each of the eight main types of porphyria is defined by the association of characteristic clinical features with a specific pattern of excess production of pathway intermediates. Each pattern indicates the site of the underlying enzymatic abnormality (Fig. 12.3.3.1). The porphyrias can therefore be defined clinically as either an acute porphyria, characterized by acute neurovisceral attacks that are associated with the overproduction of the porphyrin precursor, 5-aminolaevulinic acid (ALA, OMIM 125270), usually accompanied by porphobilinogen, or a nonacute porphyria in which these attacks are absent and photocutaneous symptoms due to excess formation of porphyrins are the main clinical manifestation. Other classifications include division into erythropoietic or hepatic, depending on the principal site of expression of the specific enzymatic defect.

A Case of Periungual Spitz Nevus with a Characteristic Clinical Manifestation and a Specific Pattern on Dermoscopy

2015 ◽  
Vol 77 (5) ◽  
pp. 483-486
Author(s):  
Honoka IHARA ◽  
Monji KOGA ◽  
Ryoko TATSUKAWA ◽  
Kaori KOGA ◽  
Yoshitugu SHIBAYAMA ◽  
...  
Keyword(s):  
Clinical Manifestation ◽  
Specific Pattern ◽  
Spitz Nevus

Hereditary Metabolic Diseases

2013 ◽  
pp. 227-256
Author(s):  
Frédéric Sedel ◽  
Hans H. Goebel ◽  
Douglas C. Anthony
Keyword(s):  
Amino Acids ◽  
Clinical Features ◽  
Metabolic Disorders ◽  
Metabolic Diseases ◽  
The Other ◽  
Structural Protein ◽  
Cellular Organelle ◽  
Biochemical Pathways ◽  
Hereditary Metabolic Diseases ◽  
Intermediate Metabolite

This chapter describes and illustrates the morphologic CNS changes in hereditary metabolic disorders. In some disorders, the metabolic derangements are most prominent in the cytosol and are linked to the dysfunction of a single cellular organelle. In these disorders there may be intracellular accumulation of an intermediate metabolite, resulting in a “storage disease” or accumulation of the abnormal substance within the cell. The organelles most commonly involved in these disorders are lysosomes, peroxisomes, mitochondria, and the cytoplasmic compartment. The other disorders are not linked to a specific cellular organelle. They are defined by an enzyme deficiency, the biochemical pathways involved (metabolic disorders of sugars, copper, amino acids, or structural protein), or only by morphologic/clinical features.

Incoercible Voices: Clinical and Phenomenological Architecture of Auditory Hallucinations

2009 ◽  
Vol 24 (S1) ◽  
pp. 1-1 ◽  
Author(s):  
A. Raballo
Keyword(s):  
Clinical Practice ◽  
Clinical Features ◽  
Clinical Manifestation ◽  
Crucial Role ◽  
Phenomenological Analysis ◽  
Auditory Hallucinations ◽  
Common Symptom ◽  
Contemporary Research ◽  
Qualitative Phenomenological ◽  
Self Reference

Auditory hallucinations are a common symptom of schizophrenia and florid psychotic conditions. As observed by Jaspers such psychopathological phenomena entail a rich and complex clinical manifestation that is irreducibly linked to an impression of reality grounded in perception. However, most contemporary research has interpreted the jaspersian description in a literal and rather concrete way, equating hallucinatory experiences to mere disordered perceptions. Besides being theoretically problematic, such reduction of hallucinations to “perceptions without an object” substantially neglects fundamental clinical features of the experiential structures implicated in psychotic states (e.g. flagrance, unescapability, feeling of passivity, self-reference, idiosincracy). In this perspective qualitative-phenomenological analysis maintains a crucial role in disclosing the structure of hallucinatory meaning-generation which is relevant for both clinical practice and research.

Deletion 21pterq22.11: Report of a Patient with Dysmorphic Features, Hypertonia, and Café-au-Lait Macules and Review of the Literature

2017 ◽  
Vol 153 (2) ◽  
pp. 81-85 ◽  
Author(s):  
Andréa C.M. Malinverni ◽  
Érika M. Yamashiro Coelho ◽  
Kelin Chen ◽  
Mileny E. Colovati ◽  
Mirlene C. Soares Pinho Cernach ◽  
...  
Keyword(s):  
Clinical Features ◽  
Clinical Manifestation ◽  
Great Variability ◽  
Review Of The Literature ◽  
Partial Monosomy ◽  
Dysmorphic Features ◽  
Large Size ◽  
Monosomy 21

Partial monosomy 21 results in a great variability of clinical features that may be associated with the size and location of the deletion. In this study, we report a 22-month-old girl who showed a 45,XX,add(12)(p13)dn,-21 karyotype. The final cytogenomic result was 45,XX,der(12)t(12;21)(p13;q22.11) dn,-21.arr[hg19] 21q11.2q22.11(14824453_33868129)×1 revealing a deletion from 21pter to 21q22.11. Clinical manifestation of the patient included hypertonia, a long philtrum, epicanthic folds, low-set ears, and café-au-lait macules - a phenotype considered as mild despite the relatively large size of the deletion compared to patients from the literature.

scholarly journals Cholesterol metabolism in innate and adaptive response

F1000Research ◽  
2018 ◽  
Vol 7 ◽  
pp. 1647 ◽  
Author(s):  
Andrea Reboldi ◽  
Eric Dang
Keyword(s):  
Immune Response ◽  
Immune Cells ◽  
Cell Biology ◽  
Biosynthetic Pathway ◽  
Metabolic Diseases ◽  
Cholesterol Metabolism ◽  
Cholesterol Homeostasis ◽  
Gene Expressions ◽  
Origin Life ◽  
Cholesterol Biosynthetic Pathway

It has been long recognized that cholesterol is a critical molecule in mammalian cell biology, primarily for its contribution to the plasma membrane’s composition and its role in assuring proper transmembrane receptor signaling as part of lipid rafts. Efforts have also been made to characterize the cholesterol biosynthetic pathway, cholesterol homeostasis, and cholesterol-derived metabolites in order to gain insights into their dysregulation during metabolic diseases. Despite the central role cholesterol metabolism plays in shaping human health, its regulation during immune activation, such as immune response to pathogens or autoimmune/autoinflammatory diseases, is poorly understood. The immune system is composed of several type of cells with distinct developmental origin, life span, molecular requirements, and gene expressions. It is unclear whether the same array of cholesterol metabolism regulators are equally employed by different immune cells and whether distinct cholesterol metabolites have similar biological consequences in different immune cells. In this review, we will describe how cholesterol metabolism is controlled during the adaptive and the innate immune response and the role for intracellular and extracellular receptors for cholesterol and its derivatives.

scholarly journals Plasmodium falciparum hydroxymethylbilane synthase does not house any cosynthase activity within the haem biosynthetic pathway

2021 ◽  
Author(s):  
Alan F. Scott ◽  
Evelyne Deery ◽  
Andrew D. Lawrence ◽  
Martin J. Warren
Keyword(s):  
Plasmodium Falciparum ◽  
Hplc Analysis ◽  
Biosynthetic Pathway ◽  
Gene Encoding ◽  
E Coli ◽  
Aminolaevulinic Acid ◽  
Porphobilinogen Synthase

AbstractThe production of uroporphyrinogen III, the universal progenitor of macrocyclic, modified tetrapyrroles, is produced from aminolaevulinic acid (ALA) by a conserved pathway involving three enzymes: porphobilinogen synthase (PBGS), hydroxymethylbilane synthase (HmbS) and uroporphyrinogen III synthase (UroS). The gene encoding uroporphyrinogen III synthase has not yet been identified in Plasmodium falciparum but it has been suggested that this activity is housed inside a bifunctional hybroxymethylbilane synthase (HmbS). In this present study it is demonstrated that P. falciparum HmbS does not have uroporphyrinogen III synthase activity. This was demonstrated by the failure of a codon optimised P. falciparum hemC gene, encoding HmbS, to compliment a defined E. coli hemD- mutant (SASZ31) deficient in uroporphyrinogen III synthase activity. Furthermore, HPLC analysis of the oxidsed reaction product from recombinant, purified HmbS showed that only uroporphyrin I could be detected (corresponding to hydroxymethylbilane production). No uroporphyrin III was detected, thus showing that P. falciparum HmbS does not have UroS activity and can only catalyse the formation of hydroxymethylbilane from porphobilinogen.

scholarly journals THE CLINICAL FEATURES OF ATRIOVENTRICULAR CANAL DEFECT

2017 ◽  
Vol 2 ◽  
pp. 14-21
Author(s):  
Andriana Malska
Keyword(s):  
Pulmonary Hypertension ◽  
Clinical Features ◽  
Clinical Manifestation ◽  
Congenital Heart ◽  
Viral Infections ◽  
Heart Defects ◽  
Mitral Valve Insufficiency ◽  
Atrioventricular Canal ◽  
Atrioventricular Canal Defect ◽  
Sternal Border

Atrioventricular canal defect (AVCD) is a congenital heart defect, which occurs in 2.9 % of all congenital heart defects (CHD) and is characterized by a wide variety of anatomical forms and often don’t have clear cardiac manifestation. Untreated AVCD may lead to the development of pulmonary hypertension. Aim. To determine clinical features of AVCD in children, considering variable anatomical forms of the pathology and its association with genetic pathology. Materials and methods. Patients history and outpatient statistic records of children with AVCD, who were admitted to Lviv Regional Children’s Hospital from September 1999 till January 2016 have been analyzed (n=84). The aspects of clinical manifestation of AVCD without associated pathology have been identified (n=48). Clinical manifestation of complete (n=36) and incomplete (n=12) AVCD and clinical manifestation with and without Down syndrome have been discussed. Children with AVCD were divided into two groups: A – children with complete (n=36) and B – with incomplete (n=12) form of AVCD. Group A was divided into A1 – with trisomy 21 (n=14), A2 – without genetic pathology (n=22). Results. In group А2 – 36,36±10,26 % and in group В – 50±14,4 % children were asymptomatic. Dyspnea, increased sweating during feeds, growth retardation and frequent respiratory viral infections during early childhood period were leading symptoms. Most frequent auscultation findings were accent of II heart sound over the pulmonary artery and 2-3/6 systolic murmur over left sternal border. According to echocardiographic examination mitral valve insufficiency was predominantly of mild grade, tricuspid insufficiency and pulmonary hypertension was diagnosed in group А2 with the frequency of 9,09±6,13 %). Conclusions: The absence of clinical features in group A2 and B 36,36±10,26 and 50,00±14,40 respectively, saturation levels 92,36±0,49 % in patients without genetic pathology and 95,25±0,40 % with incomplete AVCD provide a need to adopt protocol of children examination with saturation level under 95 % and compulsory echocardiographic diagnosis within the first month of life

AIDS IN A COHORT OF HEMOPHILIACS

1987 ◽  
Author(s):  
T Kamradt ◽  
D Niese ◽  
H J Brackmann ◽  
E Musch ◽  
A Steinbeck
Keyword(s):  
Clinical Features ◽  
Clinical Manifestation ◽  
Risk Groups ◽  
Large Cohort ◽  
Aids Patients

780 hemophiliacs are treated at the Institut fiir experimentelle Hamatologie, University of Bonn. Of these, 61% (475 patients) are infected with HIV.From 1982 through January 1987, 15 of the HIV-infected hemophiliacs developed AIDS. It seems alarming, that 9 patients had theirprimary manifestations of AIDS in 1986 and one in January 1987. The primary manifestations of AIDS were:We describe here the clinical features of the hemophilic AIDS patients and discuss the differences in clinical manifestation and prognosis compared to AIDS-patients belonging to other risk groups.These data are discussed on the background of other clinical, immunological and epidemiological findings in our large cohort of HIV-infected hemophiliacs.

scholarly journals Enteropathy with impaired membrane digestion and the prospects for cytoprotective therapy

2021 ◽  
Vol 93 (2) ◽  
pp. 129-137
Author(s):  
A. I. Parfenov ◽  
O. V. Akhmadullina ◽  
N. I. Belostotsky ◽  
E. A. Sabelnikova ◽  
A. A. Novikov ◽  
...  
Keyword(s):  
Small Intestine ◽  
Mucous Membrane ◽  
Clinical Manifestation ◽  
Clinical Picture ◽  
Food Products ◽  
The Poor ◽  
Intestinal Infections ◽  
Poor Tolerance ◽  
Carbohydrate Intolerance ◽  
Main Clinical Manifestation

The article describes enteropathy with impaired membrane digestion (EIMD) as a new nosological form. The main clinical manifestation of EIMD is the poor tolerance of food products, in particular carbohydrates and a decrease in the activity of membrane enzymes, in particular, carbohydrates, in the mucous membrane of the small intestine. The cause of the disease can be acute intestinal infections, viruses, drugs and other agents that damage the small intestine. The pathophysiology, clinical picture and diagnosis of EIMD are described. The basis of therapy is rebamipide, which has the ability to reduce the symptoms of carbohydrate intolerance and increase the activity of disaccharidases.

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