• No se han encontrado resultados

SÉPTIMO: UNIFICACIÓN DE CONDENAS

In document Poder Judicial de la Nación (página 164-168)

Cystic fibrosis (CF) is a hereditary autosomal recessive disorderaffecting the exocrine glands (mucous and pancreatic glands) in the body. It is a progressive condition and the most common deadly genetic disease affecting Caucasians (250, 251), although it

also occurs in other races. Cystic fibrosis is a disease that involves several organs in body by affecting the transport of sodium across cell membranes. This causes the production of abnormally thick mucus (252), leading to the blockage of the pancreatic

ducts, intestines, and bronchi. In the chest this often results in frequent respiratory

infection (251, 253).

Incidence and Prevalence

CF is the most common life-threating inherited conditions. It affects the white

population more than the black population. CF incidence varies depending on the

method of diagnosis (screening the new-born, from death certificates, or reports of

new case diagnosis) and origin of sample population raging from 1 in 2000 to 1 in

3000 live births in white population (254). According to the CF Foundation Patient

Registry in United State the incidence of CF was approximately 1 in 3,200 white and

cystic fibrosis (> 70,000 worldwide); around 1,000 new cases of CF are diagnosed

each year with > 75% of these people with CF are diagnosed by second birthday. In

the UK CF occurs in around one in 2,500 live births and around 10,000 people in the

UK have CF (256).

Diagnostic Criteria

The diagnosis of CF is mainly made on the basis of clinical signs and symptoms and

a sweat test (252) and can now often be confirmed with genetic analysis. Rosenstein

et al, reported that diagnosis of CF requires one criterion from each of the following

two groups (257, 258):

Group one:

 Two occasions of sweat chloride concentration of >60 mmol/L.  Two genetic mutations causing CF.

 Disturbed chloride transport measured as an epithelial potential difference.

Group two:

 Family history of CF.

 Positive new-born screening.

 Clinical symptoms; recurrent chest infection, weight loss, diarrheal, constipation, steatorrhoea, coughing, short of breathing and pulmonary

exacerbations and a bowel obstruction in newborn (meconium ileus)

.

In UK, children with CF are usually diagnosed shortly after birth during the

newborn screen blood test with the diagnosis then confirmed by sweat and genetic

Evaluation of Disease Activity

Cystic fibrosis is a complex disease and the severity of disease differs between

patients. Contributing factors to disease variation include: age of diagnosis, an

individual's health, nutritional status and the course of the disease and treatment have

an important role in disease outcomes (259, 260). Thus, severity of disease provides a

guide for the physician to adapt therapies. The Shwachman-Kulczycki score was the

first score to assess the severity of CF (261). CF severity tools scores are mainly

focused on 4 groups of variables: physiology, infection, inflammation, and radiology

(262). Forced expiratory volume in 1 second (FEV1) is the typical measure of lung function and a key predictor of life expectancy in people with CF (263).

Treatments Options for Cystic Fibrosis

There is currently no cure for children with CF, and they may need to take a range of

different medicine to help control the symptoms and prevent or reduce complications

(259). Specific treatment plans for each child with CF should be determined by close

work between family and medical professionals based on several factors such as: child

age, health, medical history, extent of the disease and child's tolerance for specific

medications, procedures, or therapies (260). Treatment options may include: Chest

physical therapies to help loosen and clear lung secretions (264). Medical treatment

such as antibiotics - the main treatment of the lung infections; mucus thinning

medicines like dornase alfa that make the mucus easier to cough up (265, 266); bronchodilators and anti-inflammatories treatment help to widen the airways,

decrease the inflammation, reduce the mucus section in lung and make breathing

easier; management of digestive problems that include: appropriate diet, digestive

mucus, stimulate coughing, and improve overall physical condition. Finally, those

with CF may need psychosocial support to help them deal with issues such as

surviving with CF, independence, fertility, and sexual issues.

Cystic Fibrosis Complications

Serious complications include: lung complications like chronic obstructive bronchitis, recurrent chest infection with pseudomonas aeruginosa (267), pneumonia and destruction of the lung tissue, bronchiectasis, fibrosis and emphysema (255) leading to respiratory insufficiency and cor-pulmonale. At this stage lung transplantation is the only possible treatment option (268). Children with CF are also at risk of the following common complications: malnutrition and vitamin deficiencies (269), liver disease,

meconium ileus (affects 1 in 7 newborn live birth), deficits in bone mineral density,

reduced female fertility and male fertility (270).

Possible Disease Effects of Integrated Movement Behaviours in Children with Cystic Fibrosis

Several studies show that exercise and daily habitual PA can improve health-related

quality of life (271-274), pulmonary function and aerobic fitness, and help in improve

bone mineral density in patients with CF (256), as well as reducing the rate of

hospitalisation and (275, 276). PA may help in improving airway clearance by

increasing trans-epithelial fluid transport and raising ventilation (277). Moreover, an

active lifestyle in children with CF might reduce even prevent decline in lung function

(272, 278, 279). Therefore, several bodies have recommended a minimum of 60

minutes of MVPA every day for children with CF (30, 87, 256, 280), These

applicable to children and adolescents with chronic disease (39, 281). Further,

increased time spent in SB has been associated with increased risk of co-morbidities,

reduced quality of life and increased mortality rate in adult life (282). Collectively,

sleep in children with CF had been inadequate in term of duration and quality. Some

studies had noted that children with CF had short sleep with more sleep disturbance

compared to healthy (129, 283, 284); reasons of short sleep could related to delay of

sleep time with early of wake-up time (284) or might related to frequent awakenings

episodes and more wake after sleep onset (129) or combination of the two. Overall,

the lifestyles of children with CF might be less active and more sedentary with

inadequate sleep (poor quantity and quality), and the reason for these compared to

healthy children and recommendations, possibly related to disease symptoms or

characteristics such as coughing or pain, or due to treatment regimen which is usually

complex with multiple medications and airway clearance and physiotherapies that

1.4. Aims:

The aims of the present study were to:

1. Complete a systematic review and meta-analysis (Chapters III) examining

whether children and adolescents with chronic disease meet the current MVPA

recommendations (79, 80, 281). Secondary aims were to examine the amount

of accelerometer-measured ST in children and adolescents with chronic

diseases, and to determine whether accelerometer measured MVPA and ST in

children and adolescents with chronic disease were different from those in

healthy control or comparison groups. (Paper I).

2. To complete a systematic review (Chapters IV) to determine obese children’s

and adolescents’ habitual amount of time spent in MVPA, and examine whether those living with obesity met the current MVPA recommendation for

health of a minimum of 60 minutes per day (9, 30). Secondary aims were to

examine time spent in accelerometer-measured SB by obese children and

adolescents, and to determine whether MVPA and SB in obese children and

adolescents were different from the non-obese peers (Paper II).

3. To complete a study (Chapters VI) investigating the 24 hour-movement

behaviours (Sitting/lying, PA, standing, and sleep) for 5-7 days in children with

common chronic childhood diseases and test whether there were differences

between children with chronic disease and their healthy peers, and whether

both meet the current sleep duration recommendations (Manuscript submitted

4. To complete a study (Chapters VII) investigating sleep quantity – particularly

sleep timing (sleep onset/offset), and sleep duration - and sleep quality in

children with chronic diseases and test whether these aspects of sleep in

children with chronic disease differed from healthy controls and whether both

CHAPTER II

In document Poder Judicial de la Nación (página 164-168)