bluuebunny/crossref_metadata_2025 huggingface dataset:
Enteral nutritional support
Authors: Beattie R. Mark , Dhawan Anil , W.L. Puntis John
Published: November 2011

Access routes for enteral tube feeding 73

Complications of enteral nutritional support 76

Liquid feed composition and choice of feed 78

Assessment of a patient needing nutritional support will include a decision regarding the most appropriate method of feeding. The enteral route is preferred for children who have an adequately functioning gastrointestinal tract. Oral intake can simply be increased by use of food fortification, sip feeds, or energy supplements. If oral intake is poor or contraindicated, tube feeding may be used....
Refeeding syndrome
Authors: Beattie R. Mark , Dhawan Anil , W.L. Puntis John
Published: November 2011

Guidelines for the prevention of refeeding syndrome 82

Refeeding syndrome is a term used to describe the various metabolic complications that can arise as a result of instituting nutritional support (enteral or parenteral) in malnourished patients.

• Such patients are catabolic and their major sources of energy are fat and muscle; total body stores of nitrogen, phosphate, magnesium, and potassium are depleted....
Parenteral nutrition
Authors: Beattie R. Mark , Dhawan Anil , W.L. Puntis John
Published: November 2011

Indications for parenteral nutrition 87

Parenteral nutrition regimens 87

Parenteral nutrition products 89

Monitoring of parenteral nutrition 93

Complications and their management 94

Parenteral nutrition (PN) is the supply of nutrients directly into a vein. The first case report of successful long-term PN (in an infant with small-bowel atresia) was published in 1968; since that time products for PN have been developed and refined with the result that metabolic complications are less common, and use in clinical practice has become widespread. For children with short-bowel syndrome, protracted diarrhoea, or pseudo-obstruction PN has become a life-saving intervention. Although it is also widely used in the premature infant with immaturity of gastrointestinal function, the benefit in these patients is less well defined. This is reflected by wide variation in the approach to PN support on different neonatal units. The main indication for PN is when nutritional status cannot be maintained or restored to normal using enteral feeding....
Intestinal failure
Authors: Beattie R. Mark , Dhawan Anil , W.L. Puntis John
Published: November 2011

Short-bowel syndrome 98

Excessive diarrhoea 100

Motility disorders 101

Mucosal disorders 102

The term intestinal failure (IF) refers to a functionally impaired gastrointestinal tract unable to maintain biochemical homeostasis and support normal growth. Short-bowel syndrome (SBS) is a common cause of IF and usually defined as a severe reduction in functional gut mass below the minimal amount necessary for digestion and absorption adequate to satisfy the nutrient and fluid requirements for growth. Other causes of IF include mucosal abnormalities giving rise to protracted diarrhoea, and neuromuscular disorders resulting in chronic idiopathic intestinal pseudo-obstruction syndrome (CIIPS). See ...
Home nutritional support
Authors: Beattie R. Mark , Dhawan Anil , W.L. Puntis John
Published: November 2011

Home enteral tube feeding (HETF) 106

Home parenteral nutrition (HPN) 108

Equipment supply is usually arranged through a home care company. Good communication between patient, family, and healthcare professionals is a prerequisite for effective discharge planning. The needs of the child and family must be clearly identified in order to prepare transfer from hospital to home. It is also essential that continuing care arrangements are in place with coordinated action from all involved (family, healthcare professionals, social services, education, voluntary bodies, etc.)....
Eating disorders
Authors: Beattie R. Mark , Dhawan Anil , W.L. Puntis John
Published: November 2011

Anorexia nervosa 110

Bulimia nervosa 112

Eating disorders are defined as persistent disturbance of eating (± behaviour) that impairs physical health or psychosocial functioning or both and that is not secondary to any other medical or psychiatric disorder.

Anorexia nervosa is a complex disorder described in a number of different ways and recognized for >100 years. It involves voluntary self-starvation, with weight loss, or avoidance of weight gain during adolescence. Peak age of onset is in mid-teens, with a female to male ratio of 10:1, and a prevalence of around 1%. Genetic factors are important, with 55% of monozygotic twins being concordant for anorexia. Sociocultural factors are highly relevant, with the illness occurring predominantly in Western societies where thinness has become increasingly valued as an element of the feminine ideal. Reported mortality rates vary from 0 to 22%....
Difficult eating behaviour in the young child
Authors: Beattie R. Mark , Dhawan Anil , W.L. Puntis John
Published: November 2011

Appetite 114

Common feeding problems in 1–5 year olds 116

How to increase energy intake 117

Food refusal is common in early life. During the first year infants will try food because they are hungry, or because they are using their mouths to explore the environment. Later on, there has to be motivation to try new foods, and this usually comes from imitation of other people eating. In early childhood it is the presentation of safe and socially appropriate foods and their repeated ingestion that leads to them being liked....
Food allergy
Authors: Beattie R. Mark , Dhawan Anil , W.L. Puntis John
Published: November 2011

Definitions (World Allergy Organization) 120

Types of allergic reaction 121

Diagnosing and managing food allergy 122

Food allergy most commonly affects preschool children and is being increasingly recognized. Careful history taking is central to making the diagnosis.

•Hypersensitivity: objectively reproducible symptoms or signs initiated by exposure to a defined stimulus at a dose tolerated by normal persons....
Carbohydrate intolerance
Authors: Beattie R. Mark , Dhawan Anil , W.L. Puntis John
Published: November 2011

Carbohydrates in the diet 128

Carbohydrate digestion 129

Hypolactasia/lactose intolerance 130

Congenital sucrase–isomaltase deficiency 130

Glucose–galactose malabsorption 131

Confirmation of diagnosis of carbohydrate malabsorption 131

Carbohydrates make up at least half the energy intake in the diet. The principal carbohydrates are the storage polysaccharides (starch, glycogen and cellulose), the disaccharides lactose and sucrose, and the monosaccharides glucose and fructose....
Nutritional problems in the child with neurological handicap
Authors: Beattie R. Mark , Dhawan Anil , W.L. Puntis John
Published: November 2011

Assessment 135

Suggestions for optimizing oral intake 135

Tube feeding 136

Gastro-oesophageal reflux disease (GORD) 137

Gastrostomy placement and subsequent care 137

Neurological handicap is common, with around 15 000–20 000 children in the United Kingdom having cerebral palsy. Of these, 50% are reported to have feeding problems, rising to 85% in more severely affected children (e.g. those with spastic quadriplegia). In an Oxford-based community study of feeding and nutritional problems in children with neurological impairment:
...
Obesity
Authors: Beattie R. Mark , Dhawan Anil , W.L. Puntis John
Published: November 2011

Definitions 150

Epidemiology 150

Evaluation 151

Treatment 152

Complications 153

Weight gain in an individual is the result of an energy intake from food in excess of energy expenditure. Unhealthy diets and lack of physical activity are considered to be the leading causes of avoidable illness and premature death in Europe, and the rising prevalence of obesity is a major public health concern. There is a strong tendency for excess weight to continue to accumulate from childhood through to middle age. While 40–70% of the variation in fat mass between individuals may be genetically determined, environmental factors remain crucial. Important lifestyle choices predetermining health risks in adulthood are made during childhood and adolescence. Schools must come to play a key role in promoting healthy diets and enjoyment of physical activity....
Cystic fibrosis
Authors: Beattie R. Mark , Dhawan Anil , W.L. Puntis John
Published: November 2011

Gastrointestinal manifestations 156

Management of gastrointestinal symptoms in children with CF 158

Nutrition in CF 158

Nutritional management 159

Vitamins 160

The incidence of cystic fibrosis (CF) is around 1 in 2500. Cases are diagnosed as a consequence of population screening or high-risk screening, or following presentation with clinical symptoms typical of the disorder. The basic defect is in the CFTR (cystic fibrosis transmembrane conductance regulator) protein which codes for a cyclic adenosine monophosphate-regulated chloride transporter in epithelial cells of exocrine organs. This is involved in salt and water balance across epithelial surfaces. The gene is on chromosome 7. There are multiple known mutations, the most common being ...
Cystic fibrosis-associated liver disease
Authors: Beattie R. Mark , Dhawan Anil , W.L. Puntis John
Published: November 2011

Pathophysiology 162

Clinical features 162

Diagnosis 163

Management 164

Cystic fibrosis (CF) is an autosomal recessive disease resulting from mutations in the gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) (see Chapter 21). CFTR functions as a transmembrane chloride channel in the apical membrane of most secretory epithelia and the disease thus affects lungs, pancreas, exocrine glands, gut, and liver. In CF-associated liver disease the biliary tract is most commonly involved in a spectrum from asymptomatic to biliary cirrhosis. The liver disease runs from mild and subclinical to severe cirrhosis and portal hypertension. Clinical disease is seen in 4–6% of cases, but there are biochemical abnormalities in 20–50%. At autopsy, fibrosis is present in 20% and steatosis in 50%....
Vomiting
Authors: Beattie R. Mark , Dhawan Anil , W.L. Puntis John
Published: November 2011

Assessment 166

Differential diagnosis 167

Management 167

Vomiting is a common symptom of gut disease but can also reflect disease outside the gastrointestinal tract. Vomiting refers to the forceful expulsion of gastric contents. It generally occurs as a consequence of activation of the emetic reflex....
Acute gastroenteritis
Authors: Beattie R. Mark , Dhawan Anil , W.L. Puntis John
Published: November 2011

Pathogenesis 170

Aetiology 171

Clinical features 171

Differential diagnosis 172

Assessment 173

Management 175

Prevention 177

Complications 178

Gastroenteritis is one of the commonest conditions seen in childhood. Presentation to medical practitioners occurs where there is concern over inadequate intake and dehydration, and persistence of diarrhoea and vomiting....
Gastro-oesophageal reflux
Authors: Beattie R. Mark , Dhawan Anil , W.L. Puntis John
Published: November 2011

Introduction 182

Reflux oesophagitis 182

Symptoms and signs of GORD 183

Investigation 184

Indications for investigation of presumed gastro-oesophageal reflux 186

Management 188

Specific treatment 190

Gastro-oesophageal reflux is very common. It refers to the passage of gastric contents into the lower oesophagus. It is a normal physiological phenomenon, particularly common in infancy. It is also seen in older children and adults, particularly after meals. It is secondary to transient relaxation of the lower oesophageal sphincter not associated with swallowing....
Helicobacter pylori infection, peptic ulceration, and Meckel's diverticulum
Authors: Beattie R. Mark , Dhawan Anil , W.L. Puntis John
Published: November 2011

Helicobacter pylori194

Other causes of antral gastritis and peptic (gastric and duodenal) ulceration 196

Meckel's diverticulum 197

•H. pylori is a Gram-negative organism. It is a very common infection worldwide. Infection is usually acquired in childhood, but prevalence rates are variable, being highest in developing countries. Most individuals infected with ...
Cyclical vomiting syndrome
Authors: Beattie R. Mark , Dhawan Anil , W.L. Puntis John
Published: November 2011

Clinical features 200

Diagnostic criteria 200

Triggers 200

Investigation 201

Management 201

Prophylaxis 202

Cyclical vomiting was first described by Samuel Gee in 1882. It refers to intense periods of vomiting with symptom-free intervals. The incidence is unknown. It occurs principally in pre-school or early school age children. Epilepsy is a risk factor. Other risk factors include a history of recurrent headache, migraine (50%), travel sickness, and irritable bowel syndrome (50%) in children and their families....
Pyloric stenosis
Authors: Beattie R. Mark , Dhawan Anil , W.L. Puntis John
Published: November 2011

Pyloric stenosis 204

Infantile hypertrophic pyloric stenosis is a common cause of vomiting in infancy with an incidence of 2 to 3 per 1000 live births. Males are more commonly affected than females and there is a genetic predisposition. First-born males are more commonly affected....
Achalasia and malrotation
Authors: Beattie R. Mark , Dhawan Anil , W.L. Puntis John
Published: November 2011

Achalasia 206

Malrotation and volvulus 207

This is a motility disorder in which there is impaired peristalsis in the oesophagus and the lower oesophageal sphincter fails to relax with swallowing. This leads to food being held up in the oesophagus. Presentation tends to be in late childhood/adult life. Prevalence is around 1 in 10 000....
Gastrointestinal bleeding
Authors: Beattie R. Mark , Dhawan Anil , W.L. Puntis John
Published: November 2011

Definitions 210

Initial assessment 210

Examination 212

Investigation 212

Differential diagnosis 216

Treatment 217

Overt gastrointestinal bleeding may occur as part of an acute illness or as a feature of chronic disease. Covert or obscure gastrointestinal bleeding may be uncovered in the investigation of anaemia....
Gastrointestinal polyposis
Authors: Beattie R. Mark , Dhawan Anil , W.L. Puntis John
Published: November 2011

Hamartoms 220

Adenomas 221

Hyperplastic polyps 221

Inflammatory polyps 222

Polyps generally present with painless rectal bleeding or through genetic screening of affected families with polyposis syndromes. There are various types, as listed in Table 31.1. Juvenile polyps (hamartomas) are the most commonly seen and generally benign....
Chronic diarrhoea
Authors: Beattie R. Mark , Dhawan Anil , W.L. Puntis John
Published: November 2011

Differential diagnosis 224

Assessment 225

Investigation 226

Causes 228

• Diarrhoea is the passage of excessively liquid or frequent stools with increased water content.

• Chronic diarrhoea refers to diarrhoea that has persisted for more than 2–3 weeks.

• Children with chronic diarrhoea and faltering growth need further assessment, as the underlying cause may be a malabsorption....
Coeliac disease
Authors: Beattie R. Mark , Dhawan Anil , W.L. Puntis John
Published: November 2011

Who to investigate 234

How to investigate 236

Diagnosis 238

Treatment 240

Follow-up and support 242

Coeliac disease is an immune-mediated enteropathy caused by a permanent sensitivity to gluten which is present in wheat, barley, and rye. It occurs in genetically susceptible children and adults. The classical presentation is with chronic diarrhoea, abdominal distension, and failure to thrive. The widespread availability of antibody screening has considerably changed the clinical spectrum of cases seen. The testing of children with less classical symptoms and screening of children at high risk has brought increasing recognition of the varied presentation and increased prevalence of this now very common condition....
Nutritional management of coeliac disease
Authors: Beattie R. Mark , Dhawan Anil , W.L. Puntis John
Published: November 2011

Gluten Challenge 244

Advice from the dietitan 245

Monitoring 247

A gluten-free diet is the primary treatment for coeliac disease. This involves the complete exclusion of wheat, rye, oats, and barley, although the toxicity of oats is still in question. If properly treated, patients should be able to lead a normal, active life....
Bacterial overgrowth
Authors: Beattie R. Mark , Dhawan Anil , W.L. Puntis John
Published: November 2011

Bacterial overgrowth 250

Bacterial overgrowth refers to the syndrome of stasis of the small-bowel contents leading to bacterial proliferation and excessive numbers of bacteria being present in the small bowel (normally most of the gut bacteria are in the colon). It is also known as ‘blind loop syndrome’ or ‘stagnant loop syndrome’....
Acute abdominal pain
Authors: Beattie R. Mark , Dhawan Anil , W.L. Puntis John
Published: November 2011

Introduction 252

Appendicitis 253

Intussusception 253

Miscellaneous conditions 254

The commonest surgical diagnosis in children who present to hospital with acute abdominal pain is appendicitis. The differential diagnosis is wide, however (see box below), and in >50% of admissions no specific cause is found....
Recurrent abdominal pain
Authors: Beattie R. Mark , Dhawan Anil , W.L. Puntis John
Published: November 2011

Introduction 256

Classification 257

Personality type and family factors 259

Common stresses in children with recurrent abdominal pain 259

Therapeutic options 260

Outcome 261

Recommended clinical approach 261

• Recurrent abdominal pain is common in school-aged children and is a frequent presenting complaint in general practice and general paediatric and paediatric gastroenterology clinics. Patients often have vague symptomatology and investigation usually results in a low yield of organic disease. Treatment strategies are varied and often subjective with very little evidence upon which to base them....
Chronic constipation
Authors: Beattie R. Mark , Dhawan Anil , W.L. Puntis John
Published: November 2011

Pathogenesis 267

Clinical assessment 269

Investigation 270

Practical management 271

Outcome 276

Indications to refer for specialist advice 276

Chronic functional constipation is a common problem in childhood. Without early treatment the condition is likely to impact on all aspects of the child's life, including education and psychological well-being as well as physical growth and development....
Hirschsprung's disease
Authors: Beattie R. Mark , Dhawan Anil , W.L. Puntis John
Published: November 2011

Hirschprung's disease 280

Neuronal intestinal dysplasia 281

Intestinal pseudo-obstruction 281

Hirschsprung's disease is the absence of ganglion cells in the myenteric plexus of the most distal bowel. Presentation is with constipation. Incidence is 1 in 5000. Long-segment Hirschsprung's disease is familial, with equal sex incidence. The gene is on chromosome 10. It is associated with Down's syndrome and there is a high frequency of other congenital abnormalities....
Perianal disorders
Authors: Beattie R. Mark , Dhawan Anil , W.L. Puntis John
Published: November 2011

Anal fissure 284

Perianal streptococcal infection, ‘soggy bottom’ 284

Threadworm infestations 285

Rectal prolapse 285

Solitary rectal ulcer syndrome 285

Inflammatory bowel disease 285

The perianal examination is an important part of the examination of the gastrointestinal tract. This is best done by inspection with the patient lying in the left lateral position. The perianal region can be inspected by gently parting the buttocks....
Inflammatory bowel disease: introduction
Authors: Beattie R. Mark , Dhawan Anil , W.L. Puntis John
Published: November 2011

Inflammatory bowel disease 288

• 25 % of inflammatory bowel disease (IBD) presents in childhood, usually as Crohn's disease or ulcerative colitis. The UK incidence is 5.2/100 000 children <16 years of age. Crohn's disease is the more common. Family history of Crohn's disease or ulcerative colitis is common. Both diseases can occur in the same family....
Crohn's disease
Authors: Beattie R. Mark , Dhawan Anil , W.L. Puntis John
Published: November 2011

Introduction 292

Clinical features 292

Investigation 293

Clinical course 295

Management 296

Refractory disease 300

Crohn's disease is a chronic inflammatory disease that can affect any part of the bowel, from mouth to anus. Family history is common. 25% of patients present in childhood (age <18 years), most commonly during the adolescent growth spurt....
Nutritional management of Crohn's disease
Authors: Beattie R. Mark , Dhawan Anil , W.L. Puntis John
Published: November 2011

Nutritional status 304

Treatment 304

Refeeding syndrome 306

Monitoring 306

Food reintroduction 307

Continued nutritional support following exclusive enteral nutrition 307

Crohn's disease in childhood has a significant effect on growth and development.

Enteral nutrition as a treatment for Crohn's disease was first introduced in the 1970s and is used as a primary therapy in children because of its proven efficacy, lack of side effects and positive impact on growth. The aim is to induce remission while promoting weight gain and subsequent height gain and pubertal development....
Ulcerative colitis
Authors: Beattie R. Mark , Dhawan Anil , W.L. Puntis John
Published: November 2011

Clinical presentations 310

Investigation 311

Clinical course 311

Management 312

25% of inflammatory bowel disease presents in childhood, 1/3 as ulcerative colitis. Presentation can occur at any age and ulcerative colitis is the commonest cause of inflammatory bowel disease in the younger child. Family history of Crohn's disease or ulcerative colitis is common in index cases....
Eosinophilic disorders
Authors: Beattie R. Mark , Dhawan Anil , W.L. Puntis John
Published: November 2011

Eosinophilic proctocolitis of infancy (dietary protein-induced proctocolitis of infancy) 320

Eosinophilic enterocolitis of infancy (dietary protein-induced enterocolitis of infancy) 321

Eosinophilic gastroenteropathies in the older child 322

Eosinophilic oesophagitis 323

Features suggestive of food allergy as a cause of gastrointestinal disease 323

This chapter discusses the wide spectrum of eosinophilic (allergic) disorders of the gut. They are generally not IgE mediated. Presentation is with the full spectrum of gastrointestinal symptoms and signs. Outside infancy the disorders may only become apparent on investigation of chronic gut symptoms by endoscopy to exclude oesophagitis, peptic ulceration, enteropathy, or colitis. Important disorders to consider are:
...
The pancreas
Authors: Beattie R. Mark , Dhawan Anil , W.L. Puntis John
Published: November 2011

Congenital anomalies 326

Pancreatitis 328

Pancreatic insufficiency 335

These are rare. Most anomalies are sporadic. Only the gene coding for the homeodomain protein PDX1 is clearly demonstrated to be causal of pancreatic agenesis. Inactivation or inhibition of signalling molecule sonic hedgehog (Shh) could potentially lead to annular pancreas, pancreatic divisum, and pancreatic ectopia....
Neonatal jaundice
Authors: Beattie R. Mark , Dhawan Anil , W.L. Puntis John
Published: November 2011

Epidemiology 340

Unconjugated hyperbilirubinaemia 340

Specific conditions 342

Conjugated hyperbilirubinaemia 343

Idiopathic neonatal hepatitis 347

• 30–50% of normal term newborns are jaundiced after birth.

• Physiological and breast milk jaundice account for the majority of cases.

• 1 in 2500 infants has conjugated hyperbilirubinaemia....
Biliary atresia
Authors: Beattie R. Mark , Dhawan Anil , W.L. Puntis John
Published: November 2011

Definition 350

Incidence 350

Types 350

Pathogenesis 350

Clinical presentation 351

Diagnosis 351

Treatment 351

Complications 352

Prognosis 352

Biliary atresia (BA) is a progressive cholangiopathy of unknown aetiology affecting extra- and intrahepatic biliary system presenting within the first several weeks of life.

BA is a sporadic condition with an estimated worldwide incidence of around 1/12 000–15 000 live births. It has been described in isolation in twin and triplet pregnancies, with no seasonal pattern. Children are typically born at term, with no gender predominance....
α‎1-antitrypsin deficiency
Authors: Beattie R. Mark , Dhawan Anil , W.L. Puntis John
Published: November 2011

Clinical features 354

Management 355

Liver disease in other forms of α‎1-AT deficiency 355

α‎1-Antitrypsin (α‎1-AT) is a 55 kD glycoprotein produced predominantly by hepatocytes, alveolar macrophages and intestinal endothelial cells. It acts as a protease inhibitor during an acute-phase response. It can be electrophoretically differentiated into four main variants: PiM (normal), PiZ, PiS, and Pi Null (abnormal). There are >80 other rare, clinically irrelevant, variants. ...
Alagille syndrome
Authors: Beattie R. Mark , Dhawan Anil , W.L. Puntis John
Published: November 2011

Genetics 358

Clinical features 358

Differential diagnosis 359

Investigations 359

Management: multidisciplinary approach 360

Prognosis 360

Alagille syndrome is a complex multisystem disorder with a prevalence of 1:40 000–1:100 000, characterized by hepatic, cardiac, renal, and ocular involvement. At least three of the following five major criteria are required to establish the diagnosis:
...
Familial and inherited intrahepatic cholestatic syndromes
Authors: Beattie R. Mark , Dhawan Anil , W.L. Puntis John
Published: November 2011

Definition 362

Nomenclature 362

Epidemiology 362

Pathophysiology 364

Clinical features 366

Management 368

The presence of persistent cholestasis or remitting cholestasis that has relapsed on at least one occasion with:

• Direct or indirect evidence of an inherited aetiology (or a single remitting episode with direct evidence of heredity)....
Drug-induced liver injury
Authors: Beattie R. Mark , Dhawan Anil , W.L. Puntis John
Published: November 2011

Epidemiology 374

Pathophysiology 374

Herbal drugs and alternative medicines 377

Risk factors 377

Clinical features 378

Investigation 379

Management 380

Drug induced liver injury (DILI) is a variable and complex diagnosis of exclusion, as it can present in different ways. Because of the liver's central role in drug metabolism, most prescribed drugs can cause liver injury. Liver damage can occur through drugs in a predictable, intrinsic dose-related way or in a unpredictable, idiosyncratic dose-unrelated fashion....
Autoimmune liver disease
Authors: Beattie R. Mark , Dhawan Anil , W.L. Puntis John
Published: November 2011

Autoimmune hepatitis (AIH) 386

Autoimmune hepatitis/sclerosing cholangitis overlap syndrome (ASC) 388

In paediatrics, two forms of autoimmune liver disease are recognized:

• Autoimmune hepatitis (AIH)

• AIH/sclerosing cholangitis overlap syndrome (autoimmune sclerosing cholangitis, ASC).

• Progressive inflammatory liver disorder, preferentially affecting females, characterized serologically by high levels of transaminases and IgG and presence of autoantibodies, and histologically by interface hepatitis in the absence of a known aetiology....
Metabolic liver disease
Authors: Beattie R. Mark , Dhawan Anil , W.L. Puntis John
Published: November 2011

Background 390

Clinical features 390

Investigations 392

Clinical presentations of metabolic disorders 394

General management 402

The diagnostic approach to a child with metabolic liver disease requires a high degree of suspicion, detailed history and physical examination, and extensive blood and urine tests; liver, skin, and muscle biopsy are usually necessary to establish the diagnosis....
Fatty liver disease in children
Authors: Beattie R. Mark , Dhawan Anil , W.L. Puntis John
Published: November 2011

Demographics 406

Pathophysiology 406

Differential diagnoses 407

Presenting features 407

Investigation 408

Management 409

Fatty liver disease is now increasingly recognized in children, particularly in the setting of obesity.

The term non-alcoholic steatohepatitis (NASH) was first coined in 1980 by Ludwig to describe a pattern of liver injury in adults in which the liver histology was consistent with alcoholic hepatitis, but in whom significant alcohol consumption was denied. NASH can be considered as part of a broader spectrum of non-alcoholic fatty liver disease that extends from simple steatosis through steatohepatitis that is characterized by the potential to progress to fibrosis, cirrhosis and subsequent end stage liver disease....
Wilson's disease
Authors: Beattie R. Mark , Dhawan Anil , W.L. Puntis John
Published: November 2011

Clinical features 412

Diagnosis 413

Management 414

Indications for liver transplantation 415

• Wilson's disease (WD) is an autosomal disorder of copper metabolism. The gene ATP7B codes for a copper carrier which both exports copper from hepatocyte to bile, and enables caeruloplasmin synthesis.

• WD occurs worldwide with reported incidences of 5–30 per million population. WD may present with almost any variety of liver disease in the age group 3–12 years, with psychiatric and/or neurological disease in adolescence or young adults, with combined hepatic and neurological problems, or less commonly with haemolysis or arthritis....
Hepatitis B
Authors: Beattie R. Mark , Dhawan Anil , W.L. Puntis John
Published: November 2011

Epidemiology 418

Transmission 418

Clinical features 418

Interpretation of HBV serology 419

Complications 419

Prevention 421

Management of chronic HBV infection 422

• About 2 billion people (1/3 of the world population) show evidence of exposure to hepatitis B virus (HBV) infection, with 300–400 million showing evidence of chronic HBV infection....
Hepatitis C
Authors: Beattie R. Mark , Dhawan Anil , W.L. Puntis John
Published: November 2011

Epidemiology 424

Risk of transmission 424

Clinical features 424

Specific viral tests 425

Diagnosis of HCV infection in infants born to HCV +ve mother 425

Management 425

• Hepatitis C virus (HCV) is an RNA virus of the flaviviride family.

• More than 150 million people are infected with HCV worldwide....
Bacterial, fungal, and parasitic infections of the liver
Authors: Beattie R. Mark , Dhawan Anil , W.L. Puntis John
Published: November 2011

Bacterial sepsis 428

Spirochaetal infections 431

Rickettsial infections 432

Fungal infections 432

Parasitic infections 434

Granulomatous hepatitis 437

Infectious agents can affect the liver either via direct invasion or by release of toxins. The liver's dual blood supply renders it uniquely susceptible to infection, receiving blood from the intestinal tract via the hepatic portal system, and from the systemic circulation via the hepatic artery. Because of this unique perfusion, the liver is frequently exposed to systemic or intestinal infections or the mediators of toxaemia. The biliary tree provides a further conduit for gut bacteria or parasites to access the liver parenchyma....
Liver tumours
Authors: Beattie R. Mark , Dhawan Anil , W.L. Puntis John
Published: November 2011

Infantile haemangiomata 440

Mesenchymal hamartoma 441

Focal nodular hyperplasia (FNH) 441

Nodular regenerative hyperplasia (NRH) 441

Hepatoblastoma 442

Hepatocellular carcinoma (HCC) 442

Inflammatory pseudotumour 443

Fibropolycystic liver disease 443

Liver tumours in children are rare, accounting for 0.5–2% of all neoplasms in the paediatric age group....
Complications of chronic liver disease
Authors: Beattie R. Mark , Dhawan Anil , W.L. Puntis John
Published: November 2011

Definition 446

Growth failure and malnutrition 446

Hepatic encephalopathy 448

Coagulopathy 449

Portal hypertension and variceal bleeding 450

Ascites 450

Spontaneous bacterial peritonitis 451

Hepatorenal syndrome 451

Pulmonary complications 452

Pruritus 454

Hepatic osteodystrophy 454

Endocrine dysfunction 455

Hepatocellular carcinoma 455

The complications of chronic liver disease and cirrhosis are a consequence of the impaired metabolic and synthetic function and structural alteration of the parenchyma leading to elevated portal pressure (...
Dietary interventions in liver disease
Authors: Beattie R. Mark , Dhawan Anil , W.L. Puntis John
Published: November 2011

Potential causes of malnutrition 458

Chronic liver disease 458

Acute liver disease 460

Encephalopathy/high ammonia 461

Hypoglycaemia 461

Nutritional assessment and monitoring of children with liver disease 462

Extrahepatic biliary atresia 462

• Inadequate intake: anorexia, nausea, vomiting, early satiety as a result of ascites, organomegaly....
Acute liver failure
Authors: Beattie R. Mark , Dhawan Anil , W.L. Puntis John
Published: November 2011

Definition 476

Aetiology 476

Therapy 480

Complications 480

Transplantation 484

Liver support system 484

Prognosis 485

Acute liver failure (ALF) in children is defined as ‘a rare multisystem disorder in which severe impairment of liver function, with or without encephalopathy, occurs in association with hepatocellular necrosis in a patient with no recognized underlying chronic liver disease’. Liver function is considered severely impaired if prothrombin time (PT) is >15 s or international normalized ratio (INR) is >1.5 and not corrected by vitamin K, in the presence of hepatic encephalopathy (HE) or a PT >20 s or INR >2.0 in the absence of HE....
Portal hypertension
Authors: Beattie R. Mark , Dhawan Anil , W.L. Puntis John
Published: November 2011

Definition 488

Pathophysiology 488

Clinical features 489

Causes 490

Investigations 491

Management 492

Portal hypertension is increased blood pressure within the portal venous system and defined as an increase in the pressure gradient between the portal veins and the hepatic veins (>5 mmHg).

The portal vein carries nutrient-rich blood to the liver from the GI tract and spleen. At the hilum of the liver it divides into the major right and left portal veins. Within the liver these veins undergo further divisions to supply each segment, and terminate in small branches, which pierce the limiting plate of the portal tract and enter the hepatic sinusoids through small channels (...
Paediatric liver transplantation
Authors: Beattie R. Mark , Dhawan Anil , W.L. Puntis John
Published: November 2011

• Indications and contraindications 496

• Timing of transplantation 497

• Pre-transplant assessment 498

• Types of liver transplantation 500

• Immediately after transplantation 501

• Complications 502

Liver transplantation is now a standard treatment for:

• Acute liver failure

• Chronic liver failure

•...
Introduction to nuclear cardiology
Authors: Sabharwal Nikant , Loong Chee Yee , Kelion Andrew
Published: November 2011

Introduction 2

Important milestones 4

Relation to other imaging modalities 6

The cardiologist of the early twenty-first century takes for granted the wide range of imaging modalities at his/her disposal, but it was not always so. At the beginning of the 1970s, invasive cardiac catheterization was the only reliable cardiac imaging technique. Subsequently, nuclear cardiology investigations led the way in the non-invasive assessment of cardiac disease. Some of the principles underlying these investigations [e.g. electrocardiogram (ECG)-triggered gating] have also been of great importance in the development of other imaging modalities....
Radiation physics, biology, and protection
Authors: Sabharwal Nikant , Loong Chee Yee , Kelion Andrew
Published: November 2011

Atoms and nuclei 10

Radioactive decay 12

Statistics of radioactive decay 14

Interaction of X-ray and γ‎ photons with matter 16

Dosimetry of radiation exposure 18

Biological effects of radiation exposure 20

Principles of radiation protection 22

Radiation protection of staff 24

Production of radionuclides ...
The gamma camera
Authors: Sabharwal Nikant , Loong Chee Yee , Kelion Andrew
Published: November 2011

Crystals and collimators 32

Photomultiplier tubes and electronics 34

Gamma camera performance parameters and quality control (1) 36

Gamma camera performance parameters and quality control (2) 38

Nuclear cardiology imaging is performed on an Anger gamma camera. Its key component is a large flat circular or rectangular sodium iodide crystal, activated by non-radioactive thallium (NaI(Tl)). The side of the crystal facing the patient is covered with a lead collimator, whilst the side away from the patient is viewed by an array of photomultiplier tubes (PMTs)....
Single photon emission computed tomography (SPECT)
Authors: Sabharwal Nikant , Loong Chee Yee , Kelion Andrew
Published: November 2011

Introduction to SPECT 40

Specific issues of instrumentation, acquisition and processing 42

SPECT reconstruction: filtered back-projection 44

SPECT reconstruction: iterative reconstruction 46

Image reorientation 46

Colour display 46

Gated SPECT: acquisition and reconstruction 48

Attenuation correction 50

Ensuring high quality SPECT 52

Planar scintigraphic imaging represents a three-dimensional distribution of counts within a patient as a two-dimensional image. This results in a loss of contrast between the organ of interest and surrounding tissues due to activity in overlying and underlying structures....
Radionuclide ventriculography
Authors: Sabharwal Nikant , Loong Chee Yee , Kelion Andrew
Published: November 2011

Introduction 54

A word on terminology 54

ERNV: blood-pool labelling 56

ERNV: principles of ECG-gating 58

ERNV: acquisition 58

ERNV: processing and interpretation (1) 60

ERNV: processing and interpretation (2) 62

Clinical value of ERNV 64

SPECT ERNV 66

Exercise ERNV 68

First-pass radionuclide ventriculography ...
Introduction to myocardial perfusion scintigraphy
Authors: Sabharwal Nikant , Loong Chee Yee , Kelion Andrew
Published: November 2011

Introduction 74

A word on terminology 74

Myocardial perfusion scintigraphy (MPS) is used to image relative myocardial blood flow at rest and during stress, thereby defining flow-limiting epicardial coronary stenoses and sometimes microvascular disease. It is commonly used diagnostically in patients with suspected coronary disease, and provides valuable prognostic information even in patients with proven disease....
Stress testing for myocardial perfusion scintigraphy
Authors: Sabharwal Nikant , Loong Chee Yee , Kelion Andrew
Published: November 2011

Coronary physiology and stress testing 76

Practical requirements for stress testing 78

Patient preparation for stress 80

Exercise stress: general considerations 82

Exercise stress: practical aspects 84

Exercise stress: performing the test 86

Vasodilator drugs: pharmacology 88

Vasodilator drugs: practical considerations 92

Vasodilator drugs: performing the stress test ...
Radiopharmaceuticals used in myocardial perfusion scintigraphy
Authors: Sabharwal Nikant , Loong Chee Yee , Kelion Andrew
Published: November 2011

General considerations 110

Properties of 201Tl 112

201Tl protocols 114

Properties of 99mTc-labelled tracers 116

99mTc-sestamibi and 99mTc-tetrofosmin protocols 118

Other perfusion tracers not in current clinical use 120

Any radiopharmaceutical has both chemical and physical properties which determine its physiological and imaging characteristics respectively. Practical considerations such as ease of preparation and cost are also important. Three radiopharmaceuticals are in routine clinical use in myocardial perfusion scintigraphy:...
Myocardial perfusion scintigraphy: image interpretation
Authors: Sabharwal Nikant , Loong Chee Yee , Kelion Andrew
Published: November 2011

Planar acquisitions 122

General approach to reporting SPECT images 124

Review looped cine of raw data projections 126

Qualitative and semi-quantitative evaluation of tomographic slices 128

Quantitative analysis 132

Gated SPECT 134

Attenuation correction 136

Image artefacts 138

Instrumentation-related artefacts 140

Processing-related and display-related artefacts ...
Myocardial perfusion scintigraphy: clinical value
Authors: Sabharwal Nikant , Loong Chee Yee , Kelion Andrew
Published: November 2011

Diagnosis and exclusion of coronary artery disease (1) 172

Diagnosis and exclusion of coronary artery disease (2) 176

Cost-effectiveness in diagnosis of coronary artery disease 178

Prognosis in suspected stable coronary artery disease 180

Risk assessment prior to elective non-cardiac surgery 184

Special groups: women ...
Imaging with iodine-123-labelled radiopharmaceuticals
Authors: Sabharwal Nikant , Loong Chee Yee , Kelion Andrew
Published: November 2011

123I-labelled radiopharmaceuticals 206

123I-meta-iodo-benzyl-guanidine (123I-MIBG) 208

β‎-methyl-p-[123I]iodo-phenyl-pentadecanoic acid (123I-BMIPP) 210

Nuclear cardiology techniques offer the potential to image aspects of myocardial physiology and metabolism which are not accessible to other imaging modalities. Positron emission tomography (PET) has been extensively used in this area, but for single photon emission computed tomography (SPECT) imaging the range of radiopharmaceuticals available is limited. Two radiopharmaceuticals labelled with iodine-123 (...
Cardiac positron emission tomography (PET)
Authors: Sabharwal Nikant , Loong Chee Yee , Kelion Andrew
Published: November 2011

Introduction to cardiac positron emission tomography (PET) 212

PET instrumentation (1) 214

PET instrumentation (2) 216

Radiopharmaceuticals for cardiac PET (1) 218

Radiopharmaceuticals for cardiac PET (2) 220

Interpretation and clinical significance of cardiac PET studies 222

As in single photon emission computed tomography (SPECT), positron emission tomography (PET) involves the injection of a radiopharmaceutical, the physiological properties of which determine its distribution within the patient. The labelling radionuclide then allows this distribution to be imaged. In contrast to SPECT, the positron-emitting radionuclides used in PET produce pairs of high energy 511keV ...
Assessment
Authors: Warwick David , Dunn Roderick , Melikyan Erman , Vadher Jane
Published: November 2011

Assessment 2

Range of motion 4

How to measure individual joints 6

Oedema 12

Muscle testing 14

Power grip 16

Pinch grip 18

Sensory testing 20

Pain 29

Scar 30

Function 32

Outcomes 36

• Identifying the underlying cause of their problems

• Prioritizing their problems...
Rehabilitation
Authors: Warwick David , Dunn Roderick , Melikyan Erman , Vadher Jane
Published: November 2011

Introduction 42

Exercise 44

Splinting 48

Oedema control 54

Scar 56

Hypersensitivity 60

Pain 62

Sensory re-education 66

Psychological implications of hand problems 70

Stiffness 74

Complex regional pain syndrome (CRPS) 78

Rehabilitation of the hand is critical to ensure the best outcome after hand surgery or injury. Whilst surgical and therapeutic interventions have progressed, the principles of treatment have remained much the same....
Anaesthesia
Authors: Warwick David , Dunn Roderick , Melikyan Erman , Vadher Jane
Published: November 2011

Local and regional anaesthesia 88

Pharmacology of local anaesthetics 88

Toxicity of local anaesthetics 90

Peripheral nerve blockade 92

Regional anaesthesia 94

Complications of regional anaesthesia 95

Topical anaesthesia 95

Tourniquet 96

Local and regional anaesthesia is widely used in hand surgery due to its favourable attributes. These are mainly:
...
Bone and joint injuries—wrist and forearm
Authors: Warwick David , Dunn Roderick , Melikyan Erman , Vadher Jane
Published: November 2011

Bone and joint injuries—wrist and forearm 100

Forearm fractures 102

Ulnar corner injuries 106

Fractures of the distal radius in adults 108

Fractures of the distal radius in children 118

Fractures of the scaphoid 120

Fractures of the other carpal bones 127

Carpal ligament rupture and dislocations ...
Bone and joint injuries of the hand
Authors: Warwick David , Dunn Roderick , Melikyan Erman , Vadher Jane
Published: November 2011

Thumb dislocations and ligament injuries 136

Finger dislocations and ligament injuries 139

Metacarpal fractures 145

Finger fractures 147

Associated with sports and motorcycle injuries. The mechanism of this injury is controversial, however likely to be axial loading of semiflexed thumb. Base of thumb metacarpal dislocates dorsally, rupturing the palmar oblique ligament (‘beak’ ligament). May reduce spontaneously....
Soft tissue injuries of the hand
Authors: Warwick David , Dunn Roderick , Melikyan Erman , Vadher Jane
Published: November 2011

Wound care 154

Cold sensitivity 155

Microvascular replantation 156

Revascularization162

Amputations164

Nail injury170

High-pressure injection injury174

Extravasation injury176

Gunshot wounds178

Burns180

Frostbite186

Factitious injury (Secretans's)189

• Thorough cleaning

• Dressings

• Splints:

• Position of safe immobilization (POSI), joints with the collateral ligaments in the longest position preventing contractures....
Reconstruction
Authors: Warwick David , Dunn Roderick , Melikyan Erman , Vadher Jane
Published: November 2011

Principles of reconstruction of upper limb injuries 192

Surgical incisions 196

Suturing 197

Wound care 200

Soft tissue healing 203

Grafts 204

Flaps 208

Useful flaps for upper limb reconstruction 212

Reconstruction from axilla to hand 218

Reconstruction of digits 220

Thumb reconstruction 222

•...
Skin conditions
Authors: Warwick David , Dunn Roderick , Melikyan Erman , Vadher Jane
Published: November 2011

Surgical incisions 228

Nail 229

Benign skin tumours 230

Malignant skin tumours 232

Squamous cell carcinoma 234

Malignant melanoma 236

Other malignant skin tumours 240

Dupuytren's disease 242

The hand is second only to the face in awareness of appearance by both patients and those with whom they interact. Surgeons should always consider this when designing incisions....
Osteoarthritis of the hand
Authors: Warwick David , Dunn Roderick , Melikyan Erman , Vadher Jane
Published: November 2011

Introduction 254

Digital joint replacement 256

Scaphoid–trapezium–trapezioid joint 258

Thumb CMCJ arthritis 260

Non-operative treatment for thumb CMC OA 262

Operative treatment for thumb CMCJ OA 264

Finger carpometacarpal joint 269

Metacarpophalangeal joint 270

Proximal interphalangeal joint 272

Distal interphalangeal joint 274

Common disease of diarthrodial joints. Primary aetiology is characterized by progressive degeneration of articular cartilage: a manifestation of an abnormal state of chondrocyte metabolism, loss of certain tissue components, alterations in microstructure and changes in biomechanical properties....
Infection
Authors: Warwick David , Dunn Roderick , Melikyan Erman , Vadher Jane
Published: November 2011

General principles 276

Microbiology 278

Antibiotic policy 279

Cellulitis 280

Abscess 282

Necrotizing fasciitis 284

Flexor tendon sheath infection 286

Bites 288

Intra-articular 290

Osteomyelitis 292

Chronic infections 293

• Take a careful history. The patient may associate the infection with an unrelated event, or have forgotten something which is relevant....
Nerves
Authors: Warwick David , Dunn Roderick , Melikyan Erman , Vadher Jane
Published: November 2011

Neuroanatomy 298

Examination of the nerves of the upper limb 300

Clinical assessment 304

Neurophysiology tests 306

Nerve injury 310

Compression neuropathy 314

Carpal tunnel syndrome 315

Proximal compression of the median nerve 318

Anterior interosseous nerve syndrome 319

Ulnar nerve compression at the elbow ...
Rheumatology
Authors: Warwick David , Dunn Roderick , Melikyan Erman , Vadher Jane
Published: November 2011

General principles 362

Rheumatoid arthritis 364

Rheumatoid wrist 368

Surgical treatment of the rheumatoid wrist 370

Metacarpophalangeal joints 374

Rheumatoid fingers 378

Rheumatoid thumb 381

Scleroderma 382

Psoriasis 383

Dactylitis 383

Systemic lupus erythematosus 384

Juvenile rheumatoid arthritis 385

Generalized ligamentous laxity 386

Diabetes and the hand ...
Tendons
Authors: Warwick David , Dunn Roderick , Melikyan Erman , Vadher Jane
Published: November 2011

Anatomy and physiology 392

Tendon healing 394

Flexor tendon anatomy 396

Flexor tendon zones of injury 400

Flexor tendon suture techniques 402

Flexor tendon repair 404

Closed flexor tendon rupture 410

Flexor tenolysis 412

Flexor tendon reconstruction 414

Extensor tendon anatomy 418

Extensor tendon repair ...
Ulnar corner
Authors: Warwick David , Dunn Roderick , Melikyan Erman , Vadher Jane
Published: November 2011

Anatomy 470

Causes of ulnar corner pain 472

Tendon 474

Hook of hamate non-union 475

Luno-triquetral instability 476

Ulnar translation of carpus 477

Distal radioulnar joint 478

Ulno–carpal joint 480

Pisotriquetral joint 482

Other causes of ulnar corner pain 484

Surgical procedures 486

Ulnar head—270° cartilage, articulates with sigmoid notch of distal radius. Variable concavity of sigmoid notch = variable contribution to stability and variable exposure to ulnar corner symptoms after distal radius malunion....