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Indian J Med Res 138, July 2013, pp 153-155
Book Reviews
Old and new entities with Rett or Angelman
syndrome - like intellectual disability, A. Rauch, editor
(Karger, Basel, Switzerland) 2012. 142 pages. Price:
not mentioned.
ISBN 978-3-8055-9968-9
genetic studies carried out in patients presenting with
Angelman syndrome, Rett syndrome and many other
Rett-like symdromes.
Molecular biology of UBE3A, MECP2, CDKL5,
FOXG1, MEF2C, TCF4, CNTNAP2, NRXN1,22q13.3,
EHMT1, FOX P1 and SCN1A and the disorders caused
by mutations of these genes are described well in the
respective articles. It is interesting to read the history of
the syndromes and clinical details of patients studied.
Clinical photographs help to identify minor dysmorphic
features associated with the well-known disorders and
new syndromes described in the articles.
Angelman and Rett syndromes remain the major
genetic disorders associated with mental retardation
or intellectual disability (ID) in absence of metabolic
markers, gross malformations and major dysmorphic
features. There are 12 articles that give reviews of
different syndromes in detail. All the syndromes
described in this book have a common factor of
varying degree of intellectual disability. The articles
describe the consensus criteria for clinical dignosis of
these two syndromes. There is a detailed description of
All articles give schematic diagrams of gene
abnormalities observed in these disorders. An extensive
Article. No. Name of syndrome
First described in year
Molecular biology / Genotype consideration
1
Angelman syndrome (AS)
1965 Harry Angleman
Disruption of function of maternally inherited ubiquitinprotein linkage E 3A (UBE 3A) gene that lies within
15q11.2-q13
2
Rett syndrome (RS)
1954 Andreas Rett
Mutations in MECP2 gene located in q28 region
3
MECP2 duplication syndrome 1999 Lubs et al
Increased dosage of MECP2 gene in Xq28
4
Rett variants
1985 Hanefeld
CDKLS Mutation
5
Rett variants
2005 Shoichet et al
FOXG1 gene abnormality
6
Microdeletion syndrome
2009 Engles et al
MEF2C deficiency - 5q14 microdeletion TCF4 deficiency
7
Pitt-Hopkin syndrome
1978 David Pitt and Ian Hopkin
Microdeletion 18Q21.2
8
Severe ID
2003 Verkerk et al
CNTNA 2 & NRXN1 Variants
9
Phelan-Mc Dermid syndrome 1985 Watt et al
SHANK 3 Abnormility - 22q13.3 deletion
10
Kleefstra syndrome
EHMT1 - 9q34.3 Microdeletion
11
Mild to Moderate ID
2001 Lai et al
FOXP1 deletions and mutations
12
Adult phenotypes in AS and
RS
EHMT1, TCF4, MECP2, CDKL5 & SCN1A
153
154 INDIAN J MED RES, July 2013
description of molecular studies of these disorders
will be of great benefit to the researchers in the field
of mental retardation / intellectual disabilities. Most
articles describe genetic counselling and prenatal
diagnosis whenever possible. The list of references at
the end of each article is exhaustive.
The following Table provides a summary of
information given in the 12 articles
The articles are written in a simple and lucid
language. Most studies add new knowledge to the
existing understanding of the syndromes. However,
there is repetition of description of Rett syndrome,
which could have been avoided.
Natural history, diagnostic testing, genotypephenotype correlation and differential diagnosis of
Angelman syndrome are well described in the first
article. Article 2 describes the diagnostic criteria and
staging system of clinical symptoms in details. Article
on MECP2 duplication syndrome clearly describes
clinical features, neuro-radiological features and
genotype-phenotype correlation. Article on CDKL5related disorders gives an overview of clinical features,
neuro-radiological features, structure and function of
CDKL5 gene. Clinical features of disorder related to
chromosome 14q 12 and the structure and function of
FOXG1 gene are well described in article on FOXG1
related disorders. Article on Pitt Hopkin syndrome
describes clinical features with photographs, natural
history and diagnosis in detail. History of 22q13.3
deletion syndrome along with clinical features,
photographs, differential diagnosis and natural history
is very well described in the article related to PhelanMc Dermid syndrome. Article on Kleefstra syndrome
lucidly describes molecular data and clinical data with
photographs of patients diagnosed with EHMT1 gene
abnormalities.
The editor has done an excellent work of compiling
these articles and presenting these in a uniformly
systematic pattern. It is interesting to learn about
extensive genetic studies carried out by researches of
European Union.
Madhuri Kulkarni
Learning Disability Clinic
Division of Pediatric Neurology
Department of Pediatrics
Lokmanya Tilak Municipal Medical
College & General Hospital
Mumbai 400 020, India
[email protected]
Recent human anatomy: Regional and clinical, vol.
II, Thorax, abdomen, pelvis and perineum, 1st ed.
Jagannath Prasad (Macmillan Publishers India Limited,
Delhi) 2012. 483 pages. Price: ` 858.00
ISBN 978-935-059-100-0
The author’s objective was to provide a
comprehensive textbook of anatomy in three volumes.
The author wrote these books from his vast teaching
experience. There is no doubt that the author is an
outstanding and skilled teacher who has his own way
of teaching, but it is also true that all excellent teachers
are not always high-quality writers. In India, most of
the gross anatomists write a textbook at the end of their
teaching career. This textbook is not different from
the other textbooks available in the market written
by Indian authors. The Medical Council of India
(MCI) has changed the anatomy curriculum and an
undergraduate student gets hardly nine months to study
anatomy. This fact has not been kept in mind while
writing this book. Even Gray’s Anatomy has come
with a simplified version for students, but one is yet to
see a student’s edition of anatomy textbook written by
an Indian author. Most of the Indian medical schools
advocate the Cunningham’s Dissection Manual, as it
gives complete information about the dissection and
identification of each and every anatomical structure.
The author’s thought processes have been put
collectively and made available in a textbook format.
There are tips, mnemonics and lists of questions
to bring out the relevance and basic principles of
anatomy. The author’s philosophy has been translated
in the book, thereby in many occasions the language
is telegraphic. For example, in descriptions concerning
descent of testis the author writes “In search of cooler
temperature the testis descends….” Does testis search
for a cooler temperature in the intrauterine life?
Regarding subdivisions of gut he writes “The gut is
subdivided into following three parts: 1. Foregut:
For digestion supplied by celiac artery, 2: Midgut:
For digestion and absorption supplied by…..” The
author provides incorrect information as well as mixes
dissimilar information: subdivisions, functions and
blood supply do not match with the title. In many
places line diagrams have been drawn incorrectly. Two
diagrams show the abdominal aorta behind the “Medial
arcuate ligament”, it should be “Median arcuate
ligament”. One figure shows the psoas major muscle
taking origin from the intervertebral disc, which is not
true. The formula for sacral index is incorrect. There
Book Reviews
are innumerable examples of incorrect and incomplete
information, old concepts, odd English throughout the
book. The histology and embryology sections are to be
completely rewritten. The clinical anatomy section is
full of old and incorrect concepts. At the end of the
book some sectional anatomy drawings are given. It
would have been better to give these drawings along
with the real CT or MR pictures. X-ray, MR and CT
pictures are hopelessly catastrophic. A similar comment
is applicable for the MCQ section. The book should
155
be edited by a language editor and a technical expert
before it is released in the market. The clinical anatomy
section should be updated by a clinician.
T.S. Roy
Department of Anatomy
All India Institute of Medical
Sciences, Ansari Nagar
New Delhi 110029, India
[email protected]
[email protected]