Fungal infections in paediatric patients with chronic granulomatous disease

Chronic granulomatous disease (CGD) is a primary immunodeficiency resulting from a disfunction of microbial capacity of phagocytes. Patients with this disease show great susceptibility to fungal and bacterial infections. Between 1988 and 1998, five paediatric patients with CGD who acquired mycotic infections were studied at the Paediatric Hospital Prof. Dr. J. P. Garrahan and their clinical and microbiological characteristics were described. The fungal infection appeared at the mean-age of 8.3 years (range: 1.1-17 years). All the patients had fever and lung involvement, three of them had suppurative abscesses of soft tissues. The mycological diagnosis was determined by microscopy, culture of clinical samples and serologic tests. There were three cases of disseminated aspergillosis, two cases of mixed infection: one due to Candida albicans and Nocardia asteroides and the other due to Scedosporium apiospermum and Cladosporium spp. Four out of the 5 patients died because of an infections process beyond control. Our conclusion is that new therapeutic measures must be considered along with the study of emerging pathogens in this group of patients.     

Attachment style in parents of children with chronic gastrointestinal disease

Attachment is a point of interest in psychosomatic research since it influences a wide array of biopsychosocial phenomena. Data from literature highlights the role of this concept in the context of Inflammatory Bowel disease (IBD), still, there is a lack of data regarding attachment among parents of children with chronic gastrointestinal diseases. The main hypothesis for the current study is that parents of children with IBD will have a more insecure attachment than parents of children with celiac disease (CD) and parents of healthy children. The second hypothesis is that insecure attachment among parents of sick children will be associated with lower parental quality of life (QoL). 46 parents of children with IBD, 42 parents of children with CD and 43 parents of healthy children completed the validated modification of the Brennan's Experiences in Close Relationship Inventory. Results were categorized as secure and insecure attachment. In order to assess parental QoL, the WHOQOL-BREF questionnaire was used. The Total QoL was calculated as a sum of all domain items. Secure attachment was found in 45.7% parents of children with IBD, in 35.7% parents of children with CD and in 32.6% parents of healthy children. Surprisingly, the lowest rate of secure attachment was found in parents of healthy children. However, significant differences among groups do not exist. For all groups of parents the attachment style is associated with Total QoL, although only among parents of children with IBD, the secure attachment independently and significantly predicts higher parental Total QoL. According to results, we might say that parental attachment style does not have a role that exclusively belongs in the context of paediatric chronic gastrointestinal diseases. However, parents of children with IBD who have insecure attachment represent target group for psychosocial support in order to improve their QoL.     

Symptom burden and health-related quality of life in chronic kidney disease: A global systematic review and meta-analysis

BackgroundThe importance of patient-reported outcome measurement in chronic kidney disease (CKD) populations has been established. However, there remains a lack of research that has synthesised data around CKD-specific symptom and health-related quality of life (HRQOL) burden globally, to inform focused measurement of the most relevant patient-important information in a way that minimises patient burden. The aim of this review was to synthesise symptom prevalence/severity and HRQOL data across the following CKD clinical groups globally: (1) stage 1–5 and not on renal replacement therapy (RRT), (2) receiving dialysis, or (3) in receipt of a kidney transplant.Methods and findingsMEDLINE, PsycINFO, and CINAHL were searched for English-language cross-sectional/longitudinal studies reporting prevalence and/or severity of symptoms and/or HRQOL in CKD, published between January 2000 and September 2021, including adult patients with CKD, and measuring symptom prevalence/severity and/or HRQOL using a patient-reported outcome measure (PROM). Random effects meta-analyses were used to pool data, stratified by CKD group: not on RRT, receiving dialysis, or in receipt of a kidney transplant. Methodological quality of included studies was assessed using the Joanna Briggs Institute Critical Appraisal Checklist for Studies Reporting Prevalence Data, and an exploration of publication bias performed. The search identified 1,529 studies, of which 449, with 199,147 participants from 62 countries, were included in the analysis. Studies used 67 different symptom and HRQOL outcome measures, which provided data on 68 reported symptoms. Random effects meta-analyses highlighted the considerable symptom and HRQOL burden associated with CKD, with fatigue particularly prevalent, both in patients not on RRT (14 studies, 4,139 participants: 70%, 95% CI 60%–79%) and those receiving dialysis (21 studies, 2,943 participants: 70%, 95% CI 64%–76%). A number of symptoms were significantly (p < 0.05 after adjustment for multiple testing) less prevalent and/or less severe within the post-transplantation population, which may suggest attribution to CKD (fatigue, depression, itching, poor mobility, poor sleep, and dry mouth). Quality of life was commonly lower in patients on dialysis (36-Item Short Form Health Survey [SF-36] Mental Component Summary [MCS] 45.7 [95% CI 45.5–45.8]; SF-36 Physical Component Summary [PCS] 35.5 [95% CI 35.3–35.6]; 91 studies, 32,105 participants for MCS and PCS) than in other CKD populations (patients not on RRT: SF-36 MCS 66.6 [95% CI 66.5–66.6], p = 0.002; PCS 66.3 [95% CI 66.2–66.4], p = 0.002; 39 studies, 24,600 participants; transplant: MCS 50.0 [95% CI 49.9–50.1], p = 0.002; PCS 48.0 [95% CI 47.9–48.1], p = 0.002; 39 studies, 9,664 participants). Limitations of the analysis are the relatively few studies contributing to symptom severity estimates and inconsistent use of PROMs (different measures and time points) across the included literature, which hindered interpretation.ConclusionsThe main findings highlight the considerable symptom and HRQOL burden associated with CKD. The synthesis provides a detailed overview of the symptom/HRQOL profile across clinical groups, which may support healthcare professionals when discussing, measuring, and managing the potential treatment burden associated with CKD.Protocol registrationPROSPERO CRD42020164737.

In a systematic review and meta analysis, Benjamin R. Fletcher and colleagues study patient-reported symptom prevalence, severity, and health related quality of life among individuals with different stages of chronic kidney disease in 62 countries.     

Growth in paediatric Crohn's disease

Growth failure (GF) is one of the major complications affecting children with inflammatory bowel disease. The faltering is temporary in 40-50% of cases and prolonged in 10-20% in Crohn's disease (CD). Such failure is rare in children with ulcerative colitis (5%). This complication is often associated with retarded bone development and delayed onset of sexual maturation. The delayed linear growth has a variety of causes including insufficient intake due to anorexia and the inflammatory process with increased energy and protein expenditure. Other factors are increased intestinal loss, secondary hypopituitarism and treatment with steroids. Therapeutic strategies of CD in children have changed this last decade by introducing new therapeutic agents such as topic steroids, immunosuppressors, anti-TNF (antibody and notably in children enteral nutrition which has shown its efficacy in inducing remissions of active CD, restoring nutritional status and stimulation of linear growth. The results of a recent prospective multicentric study over 2 years in 82 CD show that severe GF (-2 SD) is initially present in 15% (n = 12), among them 11 remain < -2SD after 2 years of follow-up. Six patients who were on the normal range initially increased their GF during the follow-up (< -2SD) (total 21% < -2SD (n = 17) at 2 years). At inclusion in this group there was no difference in growth velocity, used of steroids, enteral nutrition or severity of CD as compared to the group with no GF. It suggests that new treatment strategy should be developed in the future for this specific complication of paediatric CD.     

Advances in the management of paediatric Cushing's disease

Cushing's disease (CD) is rare in the paediatric age range, but may present a difficult therapeutic challenge. Most paediatric endocrinologists have limited experience managing children or adolescents with CD and thus benefit from close consultation with adult colleagues. Prior to definitive treatment, a diagnostic protocol for investigation is required which broadly follows the model for adult patients. Treatment strategies for CD are described and critically appraised. The management of paediatric CD patients after cure also presents challenges for optimizing growth, bone health, reproduction and body composition from childhood into and during adult life.     

Parental genotypes in the risk of a complex disease

Our understanding of the genetic etiology of complex disorders is still elusive. According to the common-variant/common-disease hypothesis, frequent functional polymorphisms are the best candidates for disease-susceptibility alleles. Implicitly, we also assume that disease-susceptibility alleles are preferentially transmitted from parents to the affected offspring and that this effect can be captured by the transmission/disequilibrium test (TDT). However, our study of genetic predisposition to childhood acute lymphoblastic leukemia suggests that a focus on the patient's genotype might, in certain instances, be misleading. Our results indicate that, at least at some loci, parental genetics might be of primary importance in predicting the risk of cancer in this pediatric model of a complex disease. Consequently, in addition to TDT, other complementary strategies will need to be simultaneously applied to dissect genetic predisposition to complex disorders.     

Impact of unilateral spatial neglect on chronic patient's post-stroke quality of life

Abstract

Background: Unilateral spatial neglect (USN) is the prevalent feature in patients with right-sided stroke. It is diagnosed through the behavior inattention test (BIT) and has a negative impact on patients affecting both their functional capacity and quality of life.

Objective: Here, we aimed to evaluate the impact of USN on the quality of life of patients in the chronic phase of stroke.

Methods: This is a cross-sectional study with stroke patients with USN. After confirming the presence of stroke through neuroimaging examinations and of USN through the BIT, patients’ quality of life was evaluated by using the EUROQOL scale. Spearman’s correlation was used to validate the correlation between patients’ USN and quality of life, with a p?<?.05 representing significant results.

Results: Eighteen individuals were included. When correlating the value of each domain of the EUROQOL scale with the results of the BIT, we observed a negative correlation between mobility (r?=?–0.97; p?=?.000), self-care (r?=?–0.82; p?=?.013), usual activities (r?=?–0.87; p?=?.005); pain or discomfort (r?=?–0.88; p?=?.004), anxiety or depression (r?=?–0.97; p?=?.000), and EUROQOL total score (r?=?–0.97, p?=?.000).

Conclusion: After a correlation between the overall EUROQOL and BIT scores, we suggest that the higher the USN degree is in stroke patients, the worse their perceived quality of life tends to be.     

Controlling death--compromising life: chronic disease, prognostication, and the new biotechnologies

Within the modern culture of control, patients and physicians seek to actively shape the uncertainty of prognostications concerning the course of disease and the anticipated effects of therapeutic and surgical interventions. This article discusses the results of a three-year ethnographic study of persons with cystic fibrosis (CF) who undergo double-lung transplant. It draws on interviews with a difficult-to-access patient group, adult CF sufferers, and investigates their dilemmas with regard to having or not having a double-lung transplant. It situates their decisions within a complex framework: the denial of death and disability in technological modernity, the consequent emphasis on cure and saving life at any cost, rather than the management of chronic illness, the extent to which health and illness constitute identity, and the problems of CF patients conceiving their life narrative when life will be short. This framework produces two key questions: Do patient beliefs in the progress narratives of medicine overshadow other considerations, and are biotechnologies such as organ transplant a calculated gamble on a better life or an uncertain reliance on biomedical expertise? I argue that risk interpretation is heavily influenced by the constant introduction of new therapeutics that intersect with social technologies of normalization to strongly influence patient decisions concerning the pursuit of high-risk surgeries such as organ transplant, surgeries that sometimes hasten a patient's decline and death.     

Duodenoscopy in the diagnosis of upper gastrointestinal disease

Duodenoscopy was undertaken in 143 patients with upper gastrointestinal tract symptoms. There were no complications of the procedure. The duodenum was successfully entered in 98% of attempts, and in 90% of patients the examination was judged to be technically successful. When compared with radiological assessment, the findings at duodenoscopy significantly altered diagnosis and management in 21% of patients. The endoscopic appearance of the non-ulcerated duodenal mucosa could not be consistently correlated with changes found in biopsy tissue obtained under direct vision. Duodenoscopy is a valuable adjunct in the clinical assessment of upper gastrointestinal tract symptoms suspected to be due to pathological changes in the duodenum.     

Electrolyte balance in gastrointestinal disease

Even small losses of gastrointestinal secretions when combined with reduced intake of electrolytes may seriously disturb electrolyte balance. Knowledge of the ionic composition of secretions lost is essential in planning therapy. Loss of gastric contents usually results in excessive loss of chloride; in achlorhydria this is not the case. Loss of sodium and potassium may be large in either case and is often underestimated. Small bowel obstruction results in a more balanced loss of electrolyte which may not affect acidbase balance greatly. In diarrhea loss of base predominates, and may result in a large potassium deficit. Steatorrhea due to nontropical sprue results in large fecal losses of sodium, potassium and chloride, in addition to the large calcium and phosphorus loss. In chronic peptic ulcer excessive ingestion of milk and absorbable alkalies may result in hypercalcemia, azotemia and alkalosis, without hypercalciuria. Since renal function is usually adequate in the milder gastrointestinal disturbances, electrolyte and fluid replacement should be started early, and can be guided by generally available laboratory tests, the carbon dioxide combining power and serum chloride levels, provided the predominate ionic loss is known and potassium deficiency remedied. If this is done, development of serious fluid and electrolyte deficits can usually be prevented.     

DIBc nano metal-organic framework improves biochemical and pathological parameters of experimental chronic kidney disease

BackgroundThe growing morbidity and mortality rate of chronic kidney disease (CKD) has forced researchers to find more efficient strategies for controlling this disease. Studies have proven the important role of alteration in iron, zinc and selenium metabolism in CKD pathological process. Nanotechnology, through synthetizing nano metal-organic framework (NMOF) structures, can be employed as a valuable strategy for using these trace elements as the key for modification and improvement of CKD-related pathological events. After proving the anti-diabetic property of DIBc NMOF (which contains selenium and zinc) in the previous study, the impact of this NMOF on some important biochemical and pathological parameters of CKD was evaluated in the current study.MethodsKnowing that diabetic nephropathy (DN) is the leading cause of CKD, male wistar rats were selected and given a high fat diet for 2 weeks and then were injected with streptozotocin (35 mg/kg) to induce DN. Six weeks after streptozotocin injection, DIBc or metformin treatment started and continued for 8 weeks.ResultsEight weeks of DIBc treatment decreased plasma fasting blood glucose, blood urea nitrogen, uric acid, malondialdehyde (MDA) and HOMA-IR index compared to DN control and metformin groups. This NMOF significantly reduced urinary albumin excretion rate, MDA and 8-isoprostane, while it increased creatinine clearance in comparison to the above-mentioned groups. Renal histo-pathological images indicated that DIBc ameliorated glomerular basement membrane thickening and wrinkling, mesangial matrix expansion and hypercellularity and presence of intra-cytoplasmic hyaline droplets in proximal cortical tubules of kidney samples.ConclusionThe results showed the therapeutic effect of DIBc on important biochemical and histo-pathological parameters of CKD, so this NMOF could be regarded as a promising novel anti-CKD agent.     

A unified framework of life cycle assessment

The International Journal of Life Cycle Assessment - The dichotomy between the attributional approach and the consequential approach is one of the major unsettled&nbsp;questions in life cycle...     

Toward reducing the prevalence of chronic disease: a life course perspective on health preservation

Chronic disease is now hyper-endemic in the United States and is the central problem to be addressed in efforts to enhance the health of the American population. Efforts to reduce the prevalence of chronic disease through diminished exposure to risk factors have achieved significant success in recent decades, but most have been expressions of secondary or tertiary prevention. Current knowledge suggests it would be more effective to extend efforts directed at reduction of risk to earlier phases in the biology of chronic diseases, and to maintain them over the life course. This approach lends itself to a health preservation perspective-in other words, to an orientation around protection of the future health of the individual across the lifespan, from preconception to old age. This will require linked efforts of the clinical, public health, and policy communities, together with private-sector collaborators in information management, marketing, and other areas of expertise.     

A quality of life in chronic combat related posttraumatic stress disorder--a study on Croatian War veterans

The main objective of this study was to examine an association of various symptoms in chronic combat-related post traumatic stress disorder (PTSD) and the quality of life in this population. 248 Croatian male war veterans all diagnosed with chronic PTSD were consecutively enrolled in this study as they showed up at the routine check-up. They were given self report questionnaires Trauma Symptom Inventory (TSI-A) evaluating different PTSD symptoms and WHO Quality of Life-BREF assessing four different domains of the quality of life. After independent sample t- test was performed, the presence of each symptom defined by Trauma Symptom Inventory indicated the impairment of all four quality of life domains in a group of subject suffering from it, except of intrusive experience not being associated with the lesser quality in social domain. All quality of life domains were significantly correlated with various PTSD symptoms; however Pearson correlation factors ranged from small to medium value. As expected, PTSD symptoms are associated with lesser quality of life in the affected population. The further research is needed to show possible causal relationship between PTSD and, especially, physical health of these patients.