Scienze e tecniche psicologiche
a.a.2010-2011
Lingua inglese
Translation practice
Text 1 Introduction
1. Introduction

In 1914 the German paediatrician Albert Niemann
described a Jewish child with damage to the brain
and nervous system. Subsequently in 1927 Ludwig
Pick analyzed the tissues from deceased children
and provided evidence of a new storage disease, not
previously described. Currently, the term ‘NiemannPick Disease’ (NPD) refers to a group of genetic
diseases of the metabolism, characterized by lipid
storage and autosomal recessive inheritance.

In 1914 the German paediatrician Albert
Niemann described a Jewish child with
damage to the brain and nervous system.
Subsequently in 1927 Ludwig Pick analyzed
the tissues from deceased children and
provided evidence of a new storage disease,
not previously described.

Currently, the term ‘Niemann-Pick Disease’
(NPD) refers to a group of genetic diseases
of the metabolism, characterized by lipid
storage and autosomal recessive
inheritance.
Thematic progression 1
Introduction
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In 1914 ….
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Subsequently in 1927 ….
Currently, …..
Thematic progression 2

In 1914 the German paediatrician Albert
Niemann described …

Subsequently in 1927 Ludwig Pick
analyzed … and provided ….

Currently, the term ‘Niemann-Pick Disease’
(NPD) refers to …
1. Introduction
In 1914 the German paediatrician Albert Niemann described
a Jewish child with damage to the brain and nervous system.
Subsequently in 1927 Ludwig Pick analyzed the tissues from
deceased children and provided evidence of a new storage
disease, not previously described.
Currently, the term ‘Niemann-Pick Disease’ (NPD) refers to
a group of genetic diseases of the metabolism, characterized
by lipid storage and autosomal recessive inheritance.
Definitions of terms in English
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Recessive: (genetics) relating to or denoting
heritable characteristics controlled by genes which
are expressed in offspring only when inherited from
both parents
(transl. recessivo)
Autosome (biology): any chromosome that is not a
sex chromosome
(traduzione autosomo. agg. autosomico)
Translation proposal
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In 1914 the German paediatrician Albert Niemann described a
Jewish child with damage to the brain and nervous system.
Subsequently in 1927 Ludwig Pick analyzed the tissues from
deceased children and provided evidence of a new storage
disease, not previously described.
Nel 1914 il pediatra tedesco Albert Niemann descrisse un
bambino ebreo con danni al cervello e al sistema nervoso.
Successivamente nel 1927, Ludwig Pick studiò i tessuti di
alcuni bambini deceduti e fornì delle prove di una nuova
tesaurismosi*, diversa da quelli fino ad allora descritte.
*Tesaurismosi. Accumulo progressivo di sostanze metaboliche normali o
abnormi nelle cellule e nei tessuti, senza che sia possibile da parte degli stessi
o dell'organismo utilizzarle o eliminarle.
Translation proposal


Currently, the term ‘Niemann-Pick Disease’ (NPD)
refers to a group of genetic diseases of the
metabolism, characterized by lipid storage and
autosomal recessive inheritance.
Oggi con la dizione ‘Malattia di Niemann-Pick (MNP)
è indicato un gruppo di patologie genetiche del
metabolismo, caratterizzate da tesaurismosi lipido e
da eredità autosomica recessiva.
\
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Alan Crocker, in 1958, was the first to
propose a classification of this series of
metabolic disorders, based on biochemical
and clinical features.
Translation proposal

Alan Crocker, in 1958, was the first to

propose a classification of this series of
metabolic disorders, based on biochemical
and clinical features.
Fu Alan Crocker, nel 1958 il primo a proporre
una classificazione di questa serie di
disturbi metabolici sulla base degli aspetti
biochimici e clinici.
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Types A and B of Niemann-Pick disease (NPD-A and NPDB) are
due to a lack of acid sphingomyelinase (A-SMase) activity, a lysosomal enzyme encoded
by the SMPD1 gene (sphingomyelin phosphodiesterase 1) located on chromosome 11.
The enzyme defect results in a pathological accumulation of sphingomyelin (SM) and other
lipids, particularly within the tissues of the reticulo-endothelial system (RES) – including the
spleen, lymph nodes, bone marrow, thymus and mononuclear phagocytes – which along
with the liver and lungs, is deeply affected by the disease.
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Niemann-Pick disease type C (NPD-C) is
a chronic neuropathy, with clinical, biochemical and molecular features distinct from those
of NPD-A and –B (primary sphingolipidosis). Common symptoms are hepatosplenomegaly
and neurodegeneration, resulting in progressive motor dysfunction, cognitive decay and
psychicdisorders. NPD-C is divided into 3 subgroups according to the age of clinical onset
and the respective phenotype: childhood presentation, late-childhood presentation and
adolescent and adult presentation. (253 words)
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Types A and B of Niemann-Pick disease
(NPD-A and NPD-B) are due to a lack of acid
sphingomyelinase (A-SMase) activity, a lysosomal enzyme
encoded by the SMPD1 gene (sphingomyelin
phosphodiesterase 1) located on chromosome 11.
The enzyme defect results in a pathological accumulation of
sphingomyelin (SM) and other lipids, particularly within the
tissues of the reticulo-endothelial system (RES) – including the
spleen, lymph nodes, bone marrow, thymus and mononuclear
phagocytes – which along with the liver and lungs, is deeply
affected by the disease.
Translation proposal
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Types A and B of Niemann-Pick disease (NPD-A
and NPD-B) are due to a lack of acid
sphingomyelinase (A-SMase) activity, a lysosomal
enzyme encoded by the SMPD1 gene
(sphingomyelin phosphodiesterase 1) located on
chromosome 11.
I tipi A e B della malattia Niemann-Pick (MNP-A e
MNP-B) sono dovuti ad un deficit di attività di
sfingomielinasi acida (A-SMasi), un enzima
lisosomiale codificato dal gene SMPD1 localizzato
sul cromosoma 11.
Translation proposal
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The enzyme defect results in a pathological accumulation of
sphingomyelin (SM) and other lipids, particularly within the
tissues of the reticulo-endothelial system (RES) – including the
spleen, lymph nodes, bone marrow, thymus and mononuclear
phagocytes – which along with the liver and lungs, is deeply
affected by the disease.
Il difetto enzimatico determina un accumulo patologico di
sfingomielina (SM) e di altri lipidi, in particolare all’interno delle
cellule del sistema reticolo-endoteliale (RES), il quale
comprende milza, linfonodi, midollo osseo, timo e fagociti
mononucleati, e che, insieme a fegato e polmoni, risulta
maggiormente colpito dalla malattia.
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Niemann-Pick disease type C (NPD-C) is a chronic
neuropathy, with clinical, biochemical and molecular
features distinct from those of NPD-A and –B
(primary sphingolipidosis). Common symptoms are
hepatosplenomegaly and neurodegeneration,
resulting in progressive motor dysfunction, cognitive
decay and psychic disorders.
NPD-C is divided into 3 subgroups according to the
age of clinical onset and the respective phenotype:
childhood presentation, late-childhood presentation
and adolescent and adult presentation.
Translation proposal
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Niemann-Pick disease type C (NPD-C) is a
chronic neuropathy, with clinical, biochemical
and molecular features distinct from those of
NPD-A and –B (primary sphingolipidosis).
La malattia di Niemann-Pick di tipo C (MNPC) è una forma neuropatica cronica ed è
distinta dal punto di vista clinico, biochimico
e molecolare dai tipi A e B (sfingolipidosi
primitive).
Translation proposal
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Common symptoms are
hepatosplenomegaly and
neurodegeneration, resulting in progressive
motor dysfunction, cognitive decay and
psychic disorders.
I sintomi principali sono l’epatosplenomegalia
e la neurodegenerazione che comporta
disfunzioni motorie progressive, decadimento
cognitivo, disturbi psichiatrici.
Translation proposal

NPD-C is divided into 3 subgroups according to the
age of clinical onset and the respective phenotype:
childhood presentation, late-childhood presentation
and adolescent and adult presentation.

La MNP-C è suddivisa in 3 sottogruppi clinici
secondo l’età d’insorgenza clinica e il relativo
fenotipo:insorgenza infantile, insorgenza della tarda
infanzia, e insorgenza dell’adolescenza e dell’ età
adulta.
Nominal groups
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Niemann-Pick disease type C (NPD-C)
clinical, biochemical and molecular features
progressive motor dysfunction,
cognitive decay
psychic disorders.
childhood presentation,
late-childhood presentation
adolescent and adult presentation.