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Problem or pathological gambling is persistent and recurrent maladaptive gambling behaviour despite its detrimental effect (disruption of personal, family or work life). It is undoubtedly a dependence disorder similar to alcohol and other drugs with a similar approach to management.

Prevalence: 0.5–1.5% of adult population

Dangers

• Suicide risk (high)

• Major depression (up to 75%)

• Stress-related problems

• Domestic violence

Key warning signs

• Gambling >$200 wk

• Chasing losses

Other telltale signs

• Spending many hours gambling

• Placing larger, more frequent bets

• Lying about behaviour

• Being secretive

• Promising cutting back but not doing it

• Impulsive activity

• Mood swings

• Gambling at expense of other pleasant social activities

• Growing debts

• Excessive drinking

Management

• Ask (as part of social history)

• Consider South Oaks Gambling screen

• Firm confrontation if suspected

• Consider using the Prochaska and Di Clemente model of change

• Give education and basic counselling

• Look at family? domestic violence

• Advise family not to provide ‘rescue money’

• Refer for specialist counselling if necessary

• Drug treatment inadvisable

Firm cystic lumps associated with joints or tendon sheaths.

Management

• Can be left to wait and see.

• Do not ‘bang with a Bible’.

• Needle aspiration and steroid injection:

  • insert 21 g needle with 5 mL syringe

  • aspirate some of contents and change syringes

  • inject 0.5 mL corticosteroid (depot)

  • can be repeated with 0.25 mL in a few wks

• Surgical excision (can be difficult)

In children

An illness of acute onset, of less than 10 days duration associated with fever, diarrhoea and/or vomiting, where there is no other evident cause for the symptoms.

Prevention: Rotavirus vaccine <6 mths

Causes

• Viral (80%): mainly rotavirus, norovirus and adenovirus

• Bacterial: C. jejuni & Salmonella sp. (two commonest), E. coli & Shigella sp.

• Protozoal: Giardia lamblia, Entamoeba histolytica, Cryptosporidium

• Food poisoning—staphylococcal toxin

Note: Dehydration from gastroenteritis is an important cause of death, particularly in obese infants (esp. if vomiting accompanies the diarrhoea).

Exclude acute appendicitis and intussusception in the very young.

Symptoms

• Anorexia, nausea, poor feeding, vomiting, fever, diarrhoea (fever and vomiting may be absent)

• Fluid stools (often watery) 10–20/d

• Crying due to pain, hunger, thirst or nausea

• Bleeding uncommon (usually bacterial)

• Anal soreness

Assessment of dehydration

The simplest way is by careful clinical assessment (e.g. urine output, vomiting, level of thirst, activity, pinched skin test). The most accurate way is to weigh the child, preferably without clothes, on the same scale each time. It is usual to classify dehydration as:

• mild: normal signs, inc. urine output

• moderate: irritable, lethargic, dry mucous membranes, decreased urine

• severe: very sick child, no urine output

Management

Management is based on the assessment and correction of fluid and electrolyte loss.

Avoid:

• Drugs—antidiarrhoeals, antiemetics and antibiotics

• Lemonade—osmotic load too high: can use if diluted 1:6 in water

To treat or not to treat at home

• Treat at home—if family can cope, vomiting is not a problem and no dehydration.

• Admit to hospital—if dehydration or persisting vomiting or family cannot cope; infants <6 mths; high-risk patients.

• Keep child isolated from other children until settled. Maintain hygiene, carers wash hands carefully and careful nappy disposal.

Advice to parents (for mild-to-moderate diarrhoea)

General rules

• Give small amounts of fluids often.

• Continue normal meals judiciously especially if not dehydrated.

• Continue breastfeeding (can be increased) or start bottle-feeding after 24 h.

• Provide maintenance fluid and fluid loss.

Day 1

Give fluids, a little at a time and often (e.g. 5 mL every 1–2 mins by spoon or syringe or 50 mL every 15 mins if vomiting a lot). A good method is to give 200 mL (about 1 cup) of fluid every time a watery stool is passed or a big vomit occurs.

Ideal fluid is Gastrolyte or New Repalyte. Other suitable oral rehydration preparations are WHO recommended solutions Electrolade and Glucolyte.

A useful product is Hydralyte paediatric rehydration, which is a solution as an ‘icy pole’ formulation.

Alternatives are:

• lemonade (not low-calorie): 1 part to 6 parts water

• sucrose (table sugar) or glucose: 1 to 120 mL water

• cordials (not low-calorie): 1 part to 16 parts water

• fruit juice: 1 part to 4 parts water

Day 2

Reintroduce the baby's milk or formula diluted to half strength (i.e. mix equal quantities of milk or formula and water).

Day 3

Increase milk to normal strength and gradually reintroduce the usual diet.

Severe dehydration

• Admit to hospital.

• Urgent IV infusion of isotonic fluid.

Method of assessing fluid requirements

Fluid loss (mL) = % dehydration × body weight (kg) × 10

Maintenance (mL/kg/24 h): 1–3 mth: 120 mL; 4–12 mth: 100 mL; >12 mth: 80 mL

Allow for continuing loss, e.g. 8-mth 10-kg child with 5% dehydration:

• fluid loss = 5 × 10 × 10 = 500 mL

• maintenance = 100 × 10 = 1000 mL

Total 24-h requirement (minimum) = 1500 mL

Approximate average hrly requirement = 60 mL

• Aim to give more (replace fluid loss) in the first 6 hrs.

• Rule of thumb: 100 mL/kg (infants) and 50 mL/kg (older children) in first 6 h.

Severely delayed gastric emptying is moderately common.

Symptoms

• Upper abdominal discomfort

• Early satiety

• Nausea; vomiting (1–3 h after meals)

Common causes

• Diabetic gastroparesis

• Post surgery, e.g. vagotomy, fundoplication

• Idiopathic

Diagnosis

• Endoscopy → gastric residue

• Barium swallow + follow through

• ‘Nuclear’ gastric emptying test

Management

• Diet—small meals, avoid fats and doughy bread

Consider

• Motilium, metoclopramide or erythromycin

• Pyloric injection botulinum toxin

Genetic testing is now available for many common hereditary disorders, such as the HFE genes for haemochromatosis. Presymptomatic DNA tests are available for the hereditary neurological disorders, such as Huntington disease, and predictive DNA testing is available for some forms of hereditary cancer, such as breast and colon cancer, and in the future for cardiovascular disease and diabetes.

Carrier screening

The presence of common mutations in severe recessive (autosomal and X-linked) disorders means that carrier screening in a community can be performed.

The disorders for which this commonly occurs are:

• thalassaemia

• Tay–Sachs disease

• cystic fibrosis

Specific important genetic disorders

• Haemochromatosis: an autosomal recessive (AR) disorder

• Thalassaemia: AR

• Cystic fibrosis: AR

• Congenital adrenal hyperplasia (AR)

• Neurofibromatosis: AD two types:

  • NF2—peripheral type (von Recklinghausen's disorder) light-brown skin patches + skin tumours + axillary freckles

  • NF2—central type, bilateral acoustic neuromas

  • No specific treatment: refer to a neurofibroma clinic

• Duchenne muscular dystrophy:

  • X-linked recessive condition

  • male child + gait disorder + bulky calves

  • most are wheelchair bound by 10–12 yrs

  • most die of respiratory problems by age 20

• Glucose-6-phosphate dehydrogenase deficiency (favism)

  • neonatal jaundice (check those at risk)

  • most symptomless

  • episodic acute haemolytic anaemia triggered by antioxidants, infections, some drugs & fava bean

• Galactosaemia

  • autosomal recessive disorder (1/60 000 births)

  • inability to metabolise galactose to glucose

  • infants become anorexic and jaundiced with milk

  • management is lactose-free formula e.g. soy

• Familial hyperlipoproteinaemia

  • familial hypercholesterolaemia

  • familial combined hyperlipidaemia

  • homozygous patients → atherosclerotic disease in childhood

  • heterozygous patients manifest in 30s or 40s

Inherited adult onset neurological disorders

• Huntington disease: autosomal dominant (AD)

  • chorea + abnormal behaviour + dementia

  • onset usually 35–55 yrs

  • usually fatal outcome 15–20 yrs

  • offspring have 1 in 2 risk

  • no current cure or specific treatment

• Creutzfeldt–Jacob disease & other prion diseases

• Familial Alzheimer disease

• Familial epilepsy

• Familial motor neurone disease

• Muscular dystrophies & myotonic dystrophy

• Friedreich's ataxia

• Others

Hereditary haemoglobinopathies and haemolytic disorders

• Thalassaemias

• Sickle cell disorders esp. in Africans

• Hereditary spherocytosis

• G-6-PD deficiency

Bleeding disorders

• Haemophilia A & B

• Von Willebrand disease

• Inherited thrombocytopenia

• Hereditary haemorrhagic telangiectasia

Thrombophilia

• Factor V Leiden gene mutation

• Prothrombin gene mutation

• Protein C deficiency

• Protein S deficiency

• Antithrombin deficiency

Chromosomal/microdeletion syndromes (childhood expression)

• Down syndrome

• Fragile X syndrome

• Prader–Willi syndrome

• Williams syndrome

• Angelman syndrome

  • puppet-like ataxia (‘happy puppet’)

  • hand flapping; seizures

  • microcephaly by 2 yrs

  • speech and intellectual impairment

• Noonan syndrome (AD):

  • characteristic facies + short stature + pulmonary stenosis

  • affects both sexes

• Tuberous sclerosis (epiloia) (AD):

  • facial rash + intellectual disability + seizures

• Marfan syndrome (AD):

  • tall stature + dislocated lens and myopia + aortic root dilatation (prone to dissection)

  • high arched palate

  • long digits—arachnodactyly

  • mitral valve prolapse

Sex chromosome abnormalities

• Klinefelter's syndrome

  • XXY genotype

  • lanky men + small testes + infertility ± intellectual disability

  • treatment: transdermal testosterone

• Turner's syndrome

  • XO karyotype

  • short stature + webbed neck + typical facies

Fetal alcohol syndrome

• Caused by teratogenic effects of alcohol

• Typical facies + growth retardation + microcephaly

• Skeletal abnormalities

Familial cancer

Although the majority of cancers are not inherited, some people carry inherited genetic mutations for certain cancers, notably breast and ovarian (linked), colorectal and others on a lesser scale, such as prostate and melanoma.

Key points

• 5% (at least) of cancers are familial

• AD inheritance (i.e. 50% of offspring affected)

• Main cancers:

  • hereditary breast-ovarian cancer syndrome (BRCA1 and BRCA2 genes)

  • hereditary non-polyposis colorectal cancer (HNPCC)

  • familial adenomatous polyposis (FAP)

Risk indicators

• Two or more first- or second-degree relatives on one side of family with cancer

• Age of onset <50 yrs

• Bilateral or multifocal breast cancer

Prevention

• Identify familial cancer risk—refer to a familial cancer clinic

• Breast cancer—regular imaging

• Ovarian cancer:

  • transvaginal ultrasound

  • serum CA-125 test

• Bowel cancer (high risk)

  • HNPCC: annual or 2-yrly colonoscopy from 25 yrs or 5 yrs younger than youngest affected family member

  • FAP: every 12 mths from 10–15 yrs to 30–35 yrs, then every 3 yrs after 35

Treatment

Counselling and support are necessary. Not all genital warts are sexually transmitted. Prevention—HPV vaccination.

For small numbers of readily accessible warts the simplest treatment is:

• podophyllotoxin 0.5% paint or 0.5% cream

  • apply bd with plastic applicator for 3 d

  • repeat in 4 d and then wkly for 4–6 cycles (if nec.)

Note: Spare the normal surrounding skin. Avoid on cervical, meatal or anorectal warts. Do not use in pregnancies. or

• cryotherapy wkly until resolved or

• imiquimod cream applied by the patient 3 times/wk to each wart for 12–24 wks until cleared

All females (inc. partners of males with warts) should be referred to a specialised clinic where colposcopy is available because of the causal link of warts to cervical cancer.

Use hydrocortisone 1% cream tds for any irritation.

(also See Tongue disorders)

Consider excess stress, tobacco, marijuana and spicy foods (may aggravate).

• Explanation and reassurance—a self-limiting condition

• No treatment if asymptomatic

• Cepacaine gargles, 10 mL tds, if tender

• If persistent and troublesome, low-dose inhaled glucocorticoid (e.g. beclomethasone 50 mcg tds) (don't rinse after use)

• Caused by plaque—remove and clean by dentist.

• Use dental floss regularly (twice a day).

• Brush carefully at gumline with Sensodyne (pink) or similar toothpaste.

• Perform gum massage between thumb and index finger.

• Use chlorhexidine 0.2% or 0.12% aqueous solution, Listerine mouthwash or dilute hydrogen peroxide.

For bacterial gingivitis

• Mild disease

  • chlorhexidine 0.2% mouthwash 10 mL bd for 10 d held in mouth for 1–2 mins or can be directly irrigated by a syringe

• Acute ulcerative gingivitis (Vincent disorder)

  • treat as for gingivitis

  • antibiotics: metronidazole or tinidazole

• Periodontitis

  • treatment is meticulous dental care and mouth washes

  • antibiotics rarely required

Epstein–Barr mononucleosis (EBM)

EBM (infectious mononucleosis, glandular fever) is a febrile illness caused by the herpes (Epstein–Barr) virus. It can mimic diseases such as HIV primary infection, streptococcal tonsillitis, cytomegalovirus, toxoplasmosis, viral hepatitis and acute lymphatic leukaemia.

It may occur at any age but usually between 10–35 yrs, commonest in 15–25 yr olds. Affects >95% of the population worldwide.

DxT: sore throat + fever + lymphadenopathy ± rash.

Diagnosis

• WCC—absolute lymphocytosis

• Blood film—atypical lymphocytes

• +ve Paul Bunnell test/monospot test

• EBV specific viral capsule antigen (IgM, IgG) antibodies (most reliable)

Prognosis

EBM usually runs an uncomplicated course over 6–8 wks. Major symptoms subside within 2–3 wks. Patients should be advised to take about 4 wks off work.

Common complications are antibiotic-induced skin rash, hepatitis, depression, prolonged debility.

Treatment

• Supportive measures (no specific treatment)

• Rest (the best treatment) during the acute stage, preferably at home and indoors

• NSAIDs or paracetamol to relieve discomfort

• Gargle soluble aspirin or 30% glucose to soothe the throat

• Advise against: alcohol, fatty foods, continued activity, esp. contact sports

• Corticosteroids reserved for various complications (e.g. neurological)

Be cautious of giving penicillins, esp. ampi/amoxycillin in misdiagnosed cases of EBM tonsillitis. It may precipitate a severe rash.

Post-EBM malaise

Some young adults remain debilitated and depressed for some months. Lassitude and malaise may extend up to a year or so.

Globus sensation (globus hystericus) appears to be associated with psychological stress.

Features

• Sensation of being ‘choked up’ or ‘something stuck’ or lump in throat

• Not affected by swallowing

• Eating and drinking may lead to relief

• Normal investigations

Treatment

• Usually settles with education, reassuring support and time

• No drug of proven value

• Treat any underlying psychological disorder

Management of acute attack

• Bed rest

• Keep weight of the bedclothes off the foot with a bed cradle or pillow under bedclothes

• Indomethacin 50 mg (o) tds (if tolerated) until symptoms abate (usu. 3–5 d) then taper 25 mg tds until cessation of attack or

• If extreme, 100 mg (o) statim, 75 mg 2 h later, then 50 mg (o) 8 hrly, then 50–70 mg/d until total relief. Relief can be expected in 24–48 h.

Note: Any other NSAID can be used.

Consider adding an antiemetic (e.g. metoclopramide 10 mg (o) tds) or

• Colchicine 0.5 mg (o) statim then 0.5 mg 6–8 hrly until pain relief (usu. 24–48 h) or diarrhoea develops (max. 6 mg/24 h)

Note: Must be given early. Avoid if kidney impairment.

• Consider corticosteroids (if sepsis excluded):

  • intra-articular, e.g. 1 mL, of triamcinolone under a digital nerve block (providing sepsis excluded) or

  • prednisolone 20 mg/d until symptoms cease, usually 3–5 d, then cease or

  • corticotrophin (ACTH) IM in difficult cases

Note:

• Avoid aspirin and urate pool lowering drugs (probenecid, allopurinol, sulphinpyrazone).

• Monitor kidney function and electrolytes.

Long-term therapy

When acute attack subsides preventive measures include:

• weight reduction

• a normal, well-balanced diet

• avoidance of purine-rich food, e.g. organ meats (liver, brain, kidneys, sweetbread), tinned fish (sardines, anchovies, herrings), shellfish and game

• reduced intake of alcohol

• good fluid intake (e.g. water)

• avoidance of drugs such as diuretics (thiazide, frusemide) and salicylates

• wearing comfortable shoes

Drug prophylaxis

Allopurinol (a xanthine oxidase inhibitor) is the drug of choice.

Dose: 100–300 mg daily

Indications:

• hyperuricaemia (only if patient symptomless)

• frequent acute attacks

• tophi or chronic gouty arthritis

• renal stones or uric acid nephropathy

Method

• Start 6–8 wks after last acute attack.

• Start with 50 mg/d for 1st wk → up to 50 mg/wk to 300 mg

• Cover with prednisolone 5 mg/d, colchicine 0.5 mg tds or indomethacin 25 mg bd for 6 mths.

A common benign group of papules arranged in an annular fashion.

• Most common among children and young adults

• Associated with diabetes

• Usually on dorsum or sides of fingers (knuckle area), backs of hands, the elbows and knees

Management

• Check urine/blood for sugar

• Give reassurance (they usually subside in a yr or so)

• Cosmetic reasons:

  • First line: potent topical corticosteroid ± occlusion apply bd for min. 4–6 wks

  • If ineffective: intradermal injection into the extending outer margin of triamcinolone (equal vol. 10% with N saline). Other long-acting steroids can be used. Can repeat at 6 wkly intervals if effective or liquid nitrogen wkly.

• If disseminated: refer for a systemic therapy, e.g. dapsone, retinoids.

A skin disorder which produces small, firm, intensely pruritic reddish-brown warty papules mainly on the upper trunk. Usually occurs in older men (70–80 yrs). Diagnosis is by biopsy.

Treatment involves relieving itch until spont. resolution. Includes topical (preferable) or oral steroids and UV light.

Peripheral neuropathy.