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Books > Medicine > Clinical & internal medicine > Diseases & disorders > Congenital diseases & disorders
This monograph on the adult with tetralogy of Fallot (TOF) is the
first of a series dedicated to common topics in adult congenital
cardiac disease (CHD). Published under the auspices of the
International Society of Adult Congenital Cardiac Disease (ISACCD),
the monograph provides comprehensive, timely review of the adult
with TOF, the most common form of cyanotic CHD. The 6 chapters of
the monograph, written by international authorities in the field,
contain background information and current data on the major
clinical problems facing adults with TOF.Patients born with TOF,
although 'fixed,' are not 'cured'. Improving survival and quality
of life for this ever-increasing adult population will continue to
challenge the current and future generations of cardiologists. This
monograph is intended as both an introduction to the subject and a
timely, comprehensive review, more extensive than a review article
and more up-to-date than a textbook. As such, this monograph should
be of interest to the internist and the cardiologist who find
themselves encountering adults with congenital heart defects with
increasing frequency in their practice. Key references provided at
the end of each chapter present the relevant literature, allowing
for further reading.
This second edition has been comprehensively updated to reflect
current clinical practice and the latest technical developments,
including pre-implantation genetic diagnosis, array CGH, QF-PCR,
non-invasive prenatal diagnosis and next generation sequencing
amongst others. The first section covers basic principles, while
the second outlines the more common situations where obstetrics and
gynaecology interact with medical genetics. The third section
contains real-life clinical case scenarios which have been selected
to represent typical problems and to highlight areas which, if
mismanaged, could have serious medico-legal consequences. Together
with its accompanying website (www.essentialmedgen.com), it
provides an invaluable guide to the use and selection of useful
online genetic resources. This book is essential reading for
candidates preparing for the MRCOG postgraduate examination, and
any health professionals requiring a clear understanding of medical
genetics and its increasingly frequent uses in obstetrics and
gynaecology, where incorrect genetic advice can have serious
consequences.
Dr. Perloff, the founding father of the field of adult congenital
heart disease, presents a decade's worth of research and clinical
data in the completely redefined 3rd edition to bring you the most
current information. With advances in diagnosis and treatment in
children, more and more of those with CHD survive well into
adulthood. Expert contributors in various fields offer a
multi-disciplinary, multi-system approach to treatment so you get
comprehensive coverage on all aspects of the subspecialty,
including basic unoperated malformations, medical and surgical
perspectives, postoperative residue, and sequelae. As someone who
treats these patients, you need to be ready to provide the
continual care they require. Conveys a multidisciplinary,
multi-system approach to the lifelong care of adult CHD patients to
put treatment in a broader context. Presents information in a
consistent, logical style so the information you need is easy to
find and apply. Supplements the text with 600 clear conceptual
illustrations to clarify difficult concepts. Features completely
rewritten chapters to include the latest developments in the
field-such as major advances in surgical and interventional
techniques-and the various needs of patients with adult CHD.
Incorporates recently published trials such as those involving
cyanotic CHD and atherogenesis, coronary microcirculation, and
pathogenesis of thrombocytopenia to supplement the chapter on
cyanotic CHD. Emphasizes advances in imaging in a new
section-edited by an expert-that covers echocardiography as well as
specialized imaging techniques. Illustrates the full range of
advances in the field with 600 images that reflect the latest
progress. Includes new chapters-Global Scope of ACHD; Cardiac
Transplantation; Electrophysiologic Abnormalities in Unoperated
Patients and Residue and Sequelae After Cardiac Surgery-to provide
you with the latest information on the growth of the subspecialty
and its effect on treatment. Presents revisions by a new authorship
of experts in infectious disease, genetics and epidemiology, sports
medicine, neurology, cardiac surgery, cardiac anesthesiology, and
more.
CHOSEN BY MAGGIE O'FARRELL IN THE GUARDIAN AS ONE OF HER BEST BOOKS
OF THE YEAR 'It's a slice of a life . . . a complex, intelligent,
beautiful, thoughtful, rather lyrical book' -Cathy Rentzenbrink,
author of The Last Act of Love 'A moving treatise on inheritance,
not just of a disease like cystic fibrosis, but of our attitudes to
living and loving, our sense of cultural and familial landscape,
and how these intangibles pass down through generations. Stevenson
picks apart her life like a strand of DNA to uncover just how we
become the sum of our parts' Daily Telegraph 'A beautiful memoir .
. . [Stevenson] is a novelist and a translator and her memoir is
about translation in the larger sense. Translating the world is
what we all do but she reminds us that one can hope - with a mind
as intricately well read and original as hers - to translate
misfortune; to absorb and see beyond it . . . Stevenson makes of
poetry, fiction and philosophy a protective shawl for her story . .
. Although intense she has a carefree wit' Kate Kellaway, Observer
'Motherhood, medicine and music are explored with a spellbinding
intensity. It is a beautifully written and entirely honest
memoir... Stevenson acknowledges the pain and overwhelming
melancholy of being the mother of a sick child but she also manages
to wholeheartedly celebrate the life of her family, who are still
determined to live as luminous a life as possible, to make a kind
of poetry out of the everyday' Eithne Farry Sunday Express
'Stevenson is a writer and musician, and her memoir is
distinguished by its ravishing prose and sensitive understanding of
the role that loss, misfortune and grief play in the story of our
lives' Jane Shilling, Daily Mail 'Love Like Salt is a human triumph
... it's all told in the most mesmerising of words, no adjective is
extraneous and Love Like Salt flows with poetic precision ...
Ultimately, Love Like Salt follows in the hallowed footsteps of
Helen MacDonald's brilliant H is for Hawk or Cathy Rentzenbrink's
The Last Act of Love. These are not misery memoirs but reminders
that life comes in all shades - that in the darkest moments, beauty
and humour can be found' Francesca Brown, Stylist 'Did Clara taste
salty when I kissed her? She did. She tasted of mermaids, of the
sea.' Love Like Salt is a deeply affecting memoir, beautifully and
intelligently written. It is about mothers and daughters, music and
illness, genes and inheritance, writing and story-telling. It is
about creating joy from the hand you've been dealt and following
its lead - in this case to rural France, where the author and her
family lived for seven years. And back again. 'I had always
written, and until the birth of Clara I wrote for a living. Once I
knew the Cystic Fibrosis gene had unfolded itself in our daughter's
body, like a paper flower meeting water, I felt that to write, even
if I had had time, or been able, would have been to squander a kind
of power which was needed for tending and nurturing. Every moment
became a moment in which I protected my baby. Some of it I did in
secret, like a madwoman muttering spells. I thought of her as a
candle, cupping my hand around her. A beautifully written memoir,
in the vein of H is for Hawk and The Last Act of Love, about
motherhood, music and living the best life you can, even in the
shadow of illness.
Durch eine grundlegende und intensive Bearbeitung fur die 5.
Auflage wurde der "Klassiker" noch einmal besser an die Bedurfnisse
des Lesers angepasst, ohne jedoch auf bewahrte Inhalte und Elemente
zu verzichten. NEU - Neustrukturierung und -zusammenstellung der
Themen und Kapitel - Kapitel zu Normalfunktion und gestoerter
Funktion stehen direkt beieinander, so entfallt muhsames Blattern
bei Nachlesen - Multiple-Choice-Fragenkatalog - Online verfugbar:
Qualitativ hochwertige und aktuelle Literaturverzeichnisse BEWAEHRT
- Berucksichtigung nationaler und internationaler Leitlinien - Mit
Testfragen zur Selbstkontrolle - Zusammenfassungen am Ende jedes
Kapitels VERLAESSLICH - Aktuelles Wissen, leicht verstandlich -
Praxisrelevante Darstellung aller wichtigen Aspekte des Fachs -
Berucksichtigung innovativer Ansatze "Klinische Endokrinologie fur
Frauenarzte" - Das Standardwerk mit einer Fulle an taglich
anwendbarem Wissen!
This invaluable resource discusses insights ranging from basic
biological mechanisms of various types of stem cells through the
potential applications in the treatment of human diseases,
including cancer and genetic disorders. These discoveries are
placed within the structural context of tissue and developmental
biology in sections dealing with recent advances in understanding
different types of stem cell biology and their potential
applications in tissue repair and regeneration and in the treatment
different types of human cancer and genetic diseases or disorders.
Stem Cells for Cancer and Genetic Disease Treatment and the other
books in the Stem Cells in Clinical Applicationsseries will be
invaluable to scientists, researchers, advanced students and
clinicians working in stem cells, regenerative medicine or tissue
engineering as well as cancer or genetics research.
JIMD Reports publishes case and short research reports in the area
of inherited metabolic disorders. Case reports highlight some
unusual or previously unrecorded feature relevant to the disorder,
or serve as an important reminder of clinical or biochemical
features of a Mendelian disorder.
Following on from the success of the international best-seller "Key
Questions in Cardiac Surgery", the long-awaited KEY QUESTIONS IN
CONGENITAL CARDIAC SURGERY will be the latest book in the Key
Questions series to be released. Key Questions in Congenital
Cardiac Surgery will systematically cover all the main topics
involved in the current practice of a congenital cardiac surgeon.
It will incorporate current guidelines for practice (such as from
the American College of Cardiology, American Heart Association,
British Paediatric Cardiac Association and European Society of
Cardiology) and up-to-date information based on current literature.
Each chapter will be structured to include the aetiology,
pathophysiology, clinical features, indications for surgery,
peri-operative management, surgical options and postoperative care.
Possible complications will be discussed and the results of current
practice presented. Importantly, there will be a section on basic
sciences related to the practising congenital cardiac surgeon and a
further section on congenital cardiac investigations with many
images illustrating the variety of pathologies. Each chapter will
also contain important references for further reading and greater
depth of knowledge. The data and body of knowledge presented in
this book is strictly evidence-based and is relevant to all
congenital cardiac surgical trainees, at any stage of their
training programme. It will provide residents, fellows and
specialist registrars the necessary information to carry out their
daily duties. Congenital cardiologists and paediatric cardiac
intensive care unit specialists will also find the book useful in
terms of the indications and surgical management of these patients,
as they are integral to the congenital cardiac surgical process.
Another important group is the nursing staff, physiotherapists and
other professions allied to medicine working with patients with
congenital cardiac disease either pre-operatively or
postoperatively, as it will help to give a detailed understanding
of the principles surrounding congenital cardiac surgical disease.
Most importantly, the book is ideal as a revision aid for
residents/registrars undertaking their Cardiothoracic Surgery Board
examinations around the world. Although these examinations vary in
format in different countries, this book is applicable to all
cardiothoracic surgical trainees. Its concise, yet complete
coverage of the important topics, make it the ideal guide to answer
the key questions in congenital cardiac surgery that are asked
within the confines of an examination.
Myotonic dystrophy is a multisystemic disorder. The epidemiology of
DM is examined in the first chapter of this book as well as
potential therapeutic strategies. The authors then go on to review
the various involvement of the endocrine system in myotonic
dystrophy and therapeutic strategies are proposed. The fourth
chapter gives an overview on the diagnostic assessment and
management of distinct clinical manifestations of CNS (Central
Nervous System) involvement in DM patients, and the main topics
regarding its pathogenesis are explored. The next chapter focuses
on the strategy of neuromuscular blockage for patients with
myotonic dystrophy, especially focusing on premedication, induction
of anaesthesia, response to muscle relaxants, the crucial points of
safe anaesthesiological care and other perioperative triggers. The
development of biomarkers is of high importance in the diagnosis
and monitoring of diseases and thus is examined with relation to
DM1 (myotonic dystrophy type 1) patients. Other chapters summarize
the different rehabilitative approaches that have been proposed in
this disease; the novel, interesting findings of therapeutic
potential to target DM1 with small molecule kinase inhibitors and
the promises his may provide to this devastating disorder; the
controversial, phenotypical consequences of the interrupted alleles
on DM1 patients; and the sleep disorders associated with myotonic
dystrophies.
Moebius syndrome is a rare congenital neurological disorder
affecting 2 to 20 out of every 1,000,000 newborns. Patients suffer
from total facial paralysis and cannot close their eyes or move
them from side to side. Unable to smile, frown or otherwise express
emotion, their everyday personal relationships are deeply affected.
This memoir of a young woman with Moebius syndrome provides a
first-person view of life ""behind the mask.
* Confidently devise a safe and successful plan for the pump run
for patients undergoing surgery for congenital heart disease. This
practical guide for perfusionists and other members of the cardiac
surgical team provides information on the devices, technology and
techniques required for successful bypass of patients with
congenital heart defects * A practical, spiral-bound, go-to
reference designed to answer the most frequently-posed questions
about bypass for CHD, the surgical treatment of which is often
complicated * Focuses on the latest technology and techniques and
provides clear, matter-of-fact guidance based on specific diagnoses
* Written by a seasoned perfusionist who is co-chief and educator
at one of the world s leading children s hospitals * Spiral binding
allows the book to be laid flat for easy referral in the operating
room * A notes section following each diagnosis enables readers to
add institution and/or surgeon-specific information to tailor a
bypass plan for each CHD lesion
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