Psychological Implications of Cystic Fibrosis

A psychological and psychiatric study of 11 children with cystic fibrosis revealed major psychological problems in all of them. Among the parents of the majority of these children, marked psychopathology and gross marital discord were noted. Popular literature concerning cystic fibrosis had a negative effect on the child''s attitude toward the disease. Virtually all of these patients showed a preoccupation with death. In this study, the necessity of psychiatric consultation as an integral part of current intensive treatment programs in cystic fibrosis clinics was demonstrated.     

Clapping or percussion causes atelectasis in dogs and influences gas exchange

We examined the effects of 10 min of lower lateral chest wall percussion with a mechanical percussor or hand clapping in groups of anesthetized, paralyzed, and ventilated supine dogs. Mechanical percussion was applied at 10-16 Hz and caused an esophageal pressure swing (delta Pes) of 10-17 cmH2O. Hand clapping was applied at 4-7 Hz and caused a delta Pes of 6-17 cmH2O. At necropsy there were large reddened areas on the lateral surface of the underlying lung as well as smaller reddened areas on the hilar surfaces of both lungs and on the lateral surface of the opposite lung. These reddened regions were demonstrated to be atelectatic by postmortem lung inflation (which caused the reddened areas to disappear) and by microscopic examination. Despite the atelectasis, gas exchange improved toward the end of the percussion or clapping period. In four dogs that were ventilated for an additional 20 min after percussion, there was a tendency for gas exchange initially to worsen and then to gradually improve.     

Age-related changes in chest geometry during cardiopulmonary resuscitation

We studied alterations of chest geometry during conventional cardiopulmonary resuscitation in anesthetized immature swine. Pulsatile force was applied to the sternum in increments to determine the effects of increasing compression on chest geometry and intrathoracic vascular pressures. In 2-wk- and 1-mo-old piglets, permanent changes in chest shape developed due to incomplete recoil of the chest along the anteroposterior axis, and large intrathoracic vascular pressures were generated. In 3-mo-old animals, permanent chest deformity did not develop, and large intrathoracic vascular pressures were not produced. We propose a theoretical model of the chest as an elliptic cylinder. Pulsatile displacement along the minor axis of an ellipse produces a greater decrease in cross-sectional area than displacement of a circular cross section. As thoracic cross section became less circular due to deformity, greater changes in thoracic volume, and hence pressure, were produced. With extreme deformity at high force, pulsatile displacement became limited, diminishing pressure generation. We conclude that changes in chest geometry are important in producing intrathoracic intravascular pressure during conventional cardiopulmonary resuscitation in piglets.     

Heredity of progressive muscular dystrophy: Reflections on a case study

Abstract

Data on the prevalence of divorce and separation among parents of children with cystic fibrosis and other chronic diseases indicate that marital breakdown is no more prevalent among these couples than it is in a general population. For couples who attended genetic counseling clinics or had children with spina bifida or leukemia, the divorce rate is lower than the United States national average. For parents of children with cystic fibrosis, the divorce rate is the same as the national average. The high recurrence risk for cystic fibrosis may deter many parents from further reproduction. We speculate that the inability to plan more children may be the factor responsible for the higher prevalence of divorce among these parents compared to those of children with other chronic diseases.     

Sweat Chlorides in Salt-Deprived Cystic Fibrosis Heterozygotes

Sweat chlorides of 10 sets of parents of children with cystic fibrosis and 11 controls were studied in an attempt to develop a test for the diagnosis of cystic fibrosis heterozygotes by subjecting both the parents and controls to a low sodium diet and comparing sweat chloride values as the diet progressed. It was hoped that the sweat chloride levels of the parents, the heterozygotes, would remain stationary throughout the diet, since their children, the homozygotes, reveal this finding under similar conditions of salt deprivation. The sweat chloride levels of the controls, because of effects of aldosterone, were expected to decrease steadily from the commencement of the diet to its termination.A decrease in sweat chloride values of similar magnitude was found in both parents and controls as the diet continued. It is concluded that the study of sweat electrolyte levels in salt-deprived subjects is of no value in the diagnosis of cystic fibrosis heterozygotes.     

Psychosocial distress and functioning of Greek youth with cystic fibrosis: a cross-sectional study

Background

To assess psychosocial functioning and distress of children and adolescents with cystic fibrosis compared to healthy controls.

Methods

Thirty-six patients with cystic fibrosis aged 8–18 years (24 boys, mean age?±?SD: 11.5?±?2.6 years) and 31 sex- and age-matched healthy control subjects (18 boys, mean age?±?SD: 12?±?2.5 years) were enrolled in the study. In order to assess the self-esteem, social adjustment, and family functioning of these young people, the Culture-free Self-esteem Inventory, the Social Adjustment Scale–Self-Report, and the Family Assessment Device were administered. Emotional/ behavioral problems were assessed through the Youth Self Report and the Child Behavior Checklist given to both the subjects and their parents.

Results

No significant differences were found for self-esteem between the two study groups. Regarding social adjustment, children with cystic fibrosis reported significantly worse friendship and overall adjustment (P?<?0.05). Moreover, no difference was found in the levels of family functioning between the two groups. No significant differences between the groups were found in emotional/ behavioral problems from the self-reports. On the contrary, parents of children with cystic fibrosis reported significantly higher levels of withdrawal/ depression, thought problems, and delinquent behavior (P?≤?0.01) as compared to controls.

Conclusions

Children and adolescents with cystic fibrosis appear to be a psychosocially vulnerable group. A biopsychosocial approach should emphasize the assessment and treatment of the psychosocial distress of these patients alongside multiple somatic treatments.

     

Inbreeding in recessive diseases

Summary The consanguinity of parents (born in France) of individuals who have a recessive disease has been studied. The frequency of first cousin marriages is less than 0.2% in the general French population. Among the parents of affected individuals the following frequencies of first cousin matings were observed:cystic fibrosis: 1.4%cystinosis: 7.1%nephronophtisis: 5.6%spinal muscular atrophy: 4.5%albinsism: 5.0%achromatopsia: 12.5%(Albinism and spinal muscular atrophy are heterogeneous conditions). The increase in the frequency of first cousin marriages relative to that of the general population is much greater, as expected, in cystinosis, which is a rare disease, than in cystic fibrosis, which is the most frequent recessive disorder in France.Inbreeding in cystinosis and cystic fibrosis was also studied by computing the distance between parental birth places. This distance is smaller in cystinosis than in cystic fibrosis.     

Decreased inhibition of platelet aggregation by PGE1 in children with cystic fibrosis and their parents

PGE₁ inhibited ADP-induced platelet aggregation in children with cystic fibrosis and their parents to a much lesser extent than in normal controls. We suggest that this may be a reliable test for heterozygote carriers of cystic fibrosis.     

Mechanism of detection of resistive loads in conscious humans.

Conscious humans easily detect loads applied to the respiratory system. Resistive loads as small as 0.5 cmH2O.l-1.s can be detected. Previous work suggested that afferent information from the chest wall served as the primary source of information for load detection, but the evidence for this was not convincing, and we recently reported that the chest wall was a relatively poor detector for applied elastic loads. Using the same setup of a loading device and body cast, we sought resistive load detection thresholds under three conditions: 1) loading of the total respiratory system, 2) loading such that the chest wall was protected from the load but airway and intrathoracic pressures experienced negative pressure in proportion to inspiratory flow, and 3) loading of the chest wall alone with no alteration of airway or intrathoracic pressure. The threshold for detection for the three types of load application in seven normal subjects was 1.17 +/- 0.33, 1.68 +/- 0.45, and 6.3 +/- 1.38 (SE) cmH2O.l-1.s for total respiratory system, chest wall protected, and chest wall alone, respectively. We conclude that the active chest wall is a less potent source of information for detection of applied resistive loads than structures affected by negative airway and intrathoracic pressure, a finding similar to that previously reported for elastic load detection.     

Requests for prenatal diagnosis from parents of children with cystic fibrosis

The request for prenatal diagnosis of cystic fibrosis has been evaluated by an interview during a visit at a cystic fibrosis clinic among 32 couples whose one or several children are affected. Six couples resorted to the procedure between June 1984 and October 1985. In all the cases, in these families the only child (or children) alive was affected. The diagnosis of the disease in the first affected child reduces the number of children planned by the family. The significant use of the test, since its availability points to the existence of a real demand from the parents.     

Screening for carriers of cystic fibrosis through primary health care services.

OBJECTIVE--To evaluate the uptake of cystic fibrosis carrier testing offered through primary health care services. DESIGN--Carrier testing for cystic fibrosis was offered to patients of reproductive age through primary health care services. SETTING--Three general practice surgeries and four family planning clinics in South West Hertfordshire District Health Authority. SUBJECTS--Over 1000 patients aged 16-44 attending two general practices and four family planning clinics and a stratified random sample of patients aged 16-44 from one general practice''s age-sex register. RESULTS--When screening was offered opportunistically the uptake was 66% in general practice and 87% in family planning clinics. Ten per cent of those offered a screening appointment by letter took up the invitation. Of the screened population, 76% had previously heard of cystic fibrosis, 35% realised it is inherited, and 18% realised that carriers need not have any family history. If they found themselves in an "at risk" partnership 39% would consider not having children and 26% would consider terminating an affected pregnancy, but in each case most people were unsure how they would react. CONCLUSIONS--Most people offered a cystic fibrosis test opportunistically wish to be tested, and the responses of those tested indicate that knowledge of carrier state would be considered in future reproductive decisions.     

Physiologic implications of the autonomic aberrations in cystic fibrosis

Cystic fibrosis patients and their parents have increased alpha-adrenergic sensitivity, increased cholinergic sensitivity, and reduced beta-adrenergic sensitivity. This combination of autonomic aberrations has been associated with increased airway reactivity in other disease populations. Although studies of airway reactivity are difficult to interpret in the cystic fibrosis patients themselves, the parents have no apparent pulmonary infection or inflammation, and one-third of these people have increased airway reactivity. Moreover, parents of children with cystic fibrosis have increased prevalence of wheezing and lung disease in childhood. Airway reactivity has been associated in other populations, with increased risk of obstructive pulmonary disease. Further studies are required to test the hypothesis that heterozygosity for CF is a risk factor for development and progression of obstructive pulmonary disease.     

Oxidation of calprotectin by hypochlorous acid prevents chelation of essential metal ions and allows bacterial growth: Relevance to infections in cystic fibrosis

Calprotectin provides nutritional immunity by sequestering manganese and zinc ions. It is abundant in the lungs of patients with cystic fibrosis but fails to prevent their recurrent infections. Calprotectin is a major protein of neutrophils and composed of two monomers, S100A8 and S100A9. We show that the ability of calprotectin to limit growth of Staphylococcus aureus and Pseudomonas aeruginosa is exquisitely sensitive to oxidation by hypochlorous acid. The N-terminal cysteine residue on S100A9 was highly susceptible to oxidation which resulted in cross-linking of the protein monomers. The N-terminal methionine of S100A8 was also readily oxidized by hypochlorous acid, forming both the methionine sulfoxide and the unique product dehydromethionine. Isolated human neutrophils formed these modifications on calprotectin when their myeloperoxidase generated hypochlorous acid. Up to 90% of the N-terminal amine on S100A8 in bronchoalveolar lavage fluid from young children with cystic fibrosis was oxidized. Oxidized calprotectin was higher in children with cystic fibrosis compared to disease controls, and further elevated in those patients with infections. Our data suggest that oxidative stress associated with inflammation in cystic fibrosis will stop metal sequestration by calprotectin. Consequently, strategies aimed at blocking extracellular myeloperoxidase activity should enable calprotectin to provide nutritional immunity within the airways.     

Role of the chest wall in detection of added elastic loads

Changes in respiratory mechanical loads are readily detected by humans. Although it is widely believed that respiratory muscle afferents serve as the primary source of information for load detection, there is, in fact, no convincing evidence to support this belief. We developed a shell that encloses the body, excluding the head and neck. A special loading apparatus altered pressure in proportion to respired volume (elastic load) in one of three ways: 1) at the mouth only (T), producing a conventional load in which respiratory muscles are loaded and airway and intrathoracic pressures are made negative in proportion to volume, 2) both at the mouth and in the shell (AW), where the same pattern of airway and intrathoracic pressure occurs but the muscles are not loaded because Prs (i.e., mouth pressure minus pressure in the shell is unchanged, and 3) positive pressure in proportion to volume at the shell only, loading the chest wall but causing no change in airway or thoracic pressures (CW). The threshold for detection (delta E50) with the three types of application was determined in seven normal subjects: 2.16 +/- 0.22, 2.65 +/- 0.54, and 6.21 +/- 0.85 (SE) cmH2O/l for T, AW, and CW, respectively. Therefore the active chest wall, including muscles, is a much less potent source of information than structures affected by the negative airway and intrathoracic pressure. The latter account for the very low threshold for load detection.     

What worries parents when their preschool children are acutely ill,and why: a qualitative study.

OBJECTIVE: To identify and explore parents'' concerns when young children become acutely ill. DESIGN: Qualitative study making use of semi-structured one to one and group interviews with parents of preschool children. SETTING: Disadvantaged inner city community. SUBJECTS: 95 parents of preschool children. RESULTS: Fever, cough, and the possibility of meningitis were parents'' primary concerns when their children became acutely ill. Parents'' concerns reflected lay beliefs, their interpretation of medical knowledge, and their fears that their child might die or be permanently harmed. Parents worried about failing to recognise a serious problem. Concerns were expressed within the context of keenly felt pressure, emphasising parents'' responsibility to protect their child from harm. They were grounded in two linked factors: parents'' sense of personal control when faced with illness in their child and the perceived threat posed by an illness. CONCLUSIONS: Better understanding of parents'' concerns may promote effective communication between health professionals and parents. Modification of parents'' personal control and perceived threat using appropriate information and education that acknowledge and address their concerns may be a means of empowering parents.     

Unique presentations and chronic complications in adult cystic fibrosis: do they teach us anything about CFTR?

The increase in numbers of adults with cystic fibrosis (CF) has allowed us to identify previously unrecognized chronic complications of CF, as well as appreciate unique presentations of cystic fibrosis-related diseases. Do these chronic complications and unique presentations provide us with new insight into cystic fibrosis transmembrane conductance regulator (CFTR) function? Current data suggest that the 'chronic complications' reveal mainly the effect of a long-term absence of previously recognized CFTR functions. In contrast, the 'unique presentations' provide new insight into the role of CFTR in different tissues.     

广西农村留守儿童人格特质特点及其影响因素研究

目的:了解广西农村留守儿童人格特质的特点及其影响因素。方法:运用儿童十四种人格特质问卷(CPQ)对1477名留守儿童和286名非留守儿童进行问卷调查。结果:(1)留守儿童和非留守儿童在大多数人格维度上并不存在显著差异;(2)留守儿童人格特质多维度皆存在显著的性别和年级差异;(3)留守儿童人格特质不同家庭经济状况、父母文化程度、父母与留守儿童的联系频率之间存在显著的差异。结论:"留守"只是一个较远端的环境变量,留守状态并不足以直接导致儿童人格特征的改变;家庭经济状况、父母文化程度、父母与留守儿童的联系频率和性别、年龄皆为影响留守儿童人格特质的重要影响因素。     

Cardiovascular Effects of Peritoneal Insufflation of Carbon Dioxide for Laparoscopy

We have investigated, in 13 artificially ventilated and anaesthetized patients, the cardiovascular effects of peritoneal insufflation of carbon dioxide preparatory to laparoscopy. Stepwise increases of intra-abdominal pressure up to a maximum of 25 cm H₂O were accompanied by increases of airway pressure, intrathoracic pressure, central venous pressure, and femoral venous pressure and by signs of cardiovascular stimulation with mild tachycardia and hypertension. End-tidal carbon dioxide tension rose only slightly. The anaesthetic technique used provided good surgical conditions; our results suggest that it does not impose undue strain on the homoeostatic ability of the patient''s cardiovascular system.     

Consanguinity sans reproche

Summary In a family with two cystic fibrosis (CF) patients and consanguineous parents, DNA analysis showed that the CF in the children was not caused by homozygosity by descent, since two different mutations were involved. A formula is given for calculating the probability that parental consanguinity, if it exists, is causally related to the existence of an autosomal recessive disease in affected children.     

Respiratory Symptoms in Children and Parental Smoking and Phlegm Production

A study of respiratory symptoms in 2,426 schoolchildren aged 6-14 years was carried out in Aylesbury, Buckinghamshire, in 1971. The prevalence of cough in the children was associated with the parents'' smoking habits; prevalence was lowest where both parents were non-smokers, highest where both parents smoked, and lay between these two levels where only one parent smoked. A close association was found between parents'' and children''s respiratory symptoms that was independent of parents'' smoking habits. There was no suggestion that exposure to the cigarette smoke generated when parents smoked had any more than a small effect upon the child''s respiratory symptoms. While the sharing of genetic susceptibility between parents and children is a factor, therefore, cross infection, particularly in the families where parents smoke, is an important element in the association.