The frequency and financial burden of genetic disease in a pediatric hospital

Medical charts from 1973 were reviewed from a general pediatric hospital whose admissions comprise 55% of those in the surrounding metropolitan area. The study population (4,115) was selected by using charts from January, March, May, July, September, and November of that year. The patients were categorized by diagnosis as to I) clearly genetic disorders, II) multifactorial disorders, III) developmental anomalies, IV) familial conditions, or V) nongenetic conditions. Of all admissions, 4.5% had genetic disorders (0.6% chromosomal 1.2% autosomal dominant, 2.2% autosomal recessive, 0.5% X-linked recessive); 22.1% had multifactorial/polygenic conditions; 13.6% developmental anomalies; 13.2% familial disorders, and 46.6% nongenetic disorders. Patients with clearly genetic disorders (category I) were found to have had an average of 5.3 admissions as compared to 1.6 for patients with nongenetic conditions (category V). Of genetic patients (category I) 12.8% had more than 20 admissions as compared to only 1.2% for all patients studied (categories I–V). The length of hospitalization for genetic patients was 3.4 days as compared to 3.0 for all patients and 2.5 for nongenetic patients. Although the cost per day for genetic patients, exclusive of physicians' fees, was lower than for all patients, the total cost of hospitalization was the same ($450.98 as compared to $446.99 for all patients). Of all patients, 60.2% studied had thirdparty coverage, whereas only 43.8% of genetic patients did. Of all patients, 15.6% paid “out of their pockets” whereas 30.5% of genetic patients did. This study suggests that genetic patients have many more admissions which are slightly more expensive; that they stay longer in hospital; that they travel farther, and that their families end up paying the bill more often. No unusual differences in religion, race, age, or parents' marital status or occupation were found. It was remarkable that only one quarter of patients with genetic illness had received genetic counseling.     

Estimating the burden and economic impact of pediatric genetic disease

PurposeTo identify the economic impact of pediatric patients with clinical indications of genetic disease (GD) on the US health-care system.MethodsUsing the 2012 Kids’ Inpatient Database, we identified pediatric inpatient discharges with International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9-CM) codes linked to genetic disease, including well-established genetic disorders, neurological diseases, birth defects, and other physiological or functional abnormalities with a genetic basis. Cohort characteristics and health-care utilization measures were analyzed. Discharges with a GD-associated primary diagnosis were used to estimate the minimum burden; discharges with GD-associated primary or secondary codes established the maximum burden.ResultsOf 5.85 million weighted discharges, 2.6–14% included GD-associated ICD-9-CM codes. For these discharges, mean total costs were $16,000–77,000 higher (P < 0.0001) in neonates and$12,000–17,000 higher (P < 0.0001) in pediatric patients compared with background, corresponding to significantly higher total charges and lengths of stay. Aggregate total charges for suspected GD accounted for $14 to $57 billion (11–46%) of the “national bill” for pediatric patients in 2012.ConclusionPediatric inpatients with diagnostic codes linked to genetic disease have a significant and disproportionate impact on resources and costs in the US health-care system.     

The economic burden of antibiotic treatment of penicillin-allergic patients in internal medicine wards of a general tertiary care hospital

BACKGROUND: Penicillin allergy poses a major problem in the management of infectious diseases. OBJECTIVE: We estimated the costs and usage of antibiotic treatment of 'penicillin-allergic' patients in comparison to non-allergic patients in a tertiary care hospital. MATERIALS AND METHODS: The study was based on the records of 118 randomly chosen in-hospital patients labelled as being 'allergic to penicillin' and who were treated with antibiotics. The antibiotic selection and cost of the patients with alleged penicillin allergy were compared to 118 matched patients without an antibiotic allergy (controls). RESULTS: During in-hospital treatment, the mean antibiotic cost for penicillin-allergic patients was 63% higher than the cost for the controls. In addition, there was a 38% higher cost of the recommended anti-microbial treatment regimen to be followed upon discharge by the former compared to the latter. CONCLUSIONS: Penicillin-allergic patients were more likely to receive broader spectrum antibiotics compared to the non-allergic ones. Since many of the patients who are labelled as being 'allergic to penicillin' are, in fact, not allergic to it, inaccurate reporting of penicillin allergies may have costly economic and epidemiologic repercussions in addition to more toxic effects which can occur when choosing alternative drugs in case of penicillin allergy.     

Prevalence of hepatitis C virus infection among hemodialysis patients at a tertiary-care hospital in Mexico City, Mexico

We determined the prevalence of hepatitis C virus (HCV) in hemodialysis patients by antibody testing and HCV RNA determination by PCR. A total of 149 patients with kidney failure with replacement therapy were tested. The prevalence of anti-HCV was 6.7% (10 of 149 patients), and viremia was detectable in 8 of 149 (5%) patients. Three of 149 patients (2%) were anti-HCV negative with detectable HCV RNA.     

The economic burden of Clostridium difficile

Although Clostridium difficile (C. difficile) is the leading cause of infectious diarrhoea in hospitalized patients, the economic burden of this major nosocomial pathogen for hospitals, third-party payers and society remains unclear. We developed an economic computer simulation model to determine the costs attributable to healthcare-acquired C. difficile infection (CDI) from the hospital, third-party payer and societal perspectives. Sensitivity analyses explored the effects of varying the cost of hospitalization, C. difficile-attributable length of stay, and the probability of initial and secondary recurrences. The median cost of a case ranged from $9179 to $11 456 from the hospital perspective, $8932 to $11 679 from the third-party payor perspective, and $13 310 to $16 464 from the societal perspective. Most of the costs incurred were accrued during a patient's primary CDI episode. Hospitals with an incidence of 4.1 CDI cases per 100 000 discharges would incur costs ≥$3.2 million (hospital perspective); an incidence of 10.5 would lead to costs ≥$30.6 million. Our model suggests that the annual US economic burden of CDI would be ≥$496 million (hospital perspective), ≥$547 million (third-party payer perspective) and ≥$796 million (societal perspective). Our results show that C. difficile infection is indeed costly, not only to third-party payers and the hospital, but to society as well. These results are consistent with current literature citing C. difficile as a costly disease.     

Parental perceptions of the burden of genetic disease

Parents who are carriers of genes that code for genetic disease face a complex decision regarding procreation. To investigate how parents perceive the potential effects of having a child with congenital defects and how such perceptions influence their reproductive decisions, 202 women accepting and 50 women rejecting amniocentesis after genetic counseling were followed in a 3-year longitudinal study. Using multiple correspondence analysis, we found that perceived burdens associated with hypothetical congenital abnormalities leading to prolonged illness or early death were considered the most serious, those related to physical handicap or facial abnormalities were perceived as least serious, while genetic defects causing mental retardation fell between. The parents were increasingly likely to accept amniocentesis the more they felt they would be unable to cope with the consequences of a genetic disease leading to prolonged illness or mental retardation (R = .23). Overall, the women who accepted amniocentesis were those who perceived the consequences of congenital malformation as most burdensome. The findings suggest that genetic counselors should not only explore parents' attitudes about specific congenital abnormalities, but also their perceptions of how they would cope with the medical and social consequences of the various genetic defects.     

Genetic diversity of HLA system in six populations from Mexico City Metropolitan Area,Mexico: Mexico City North,Mexico City South,Mexico City East,Mexico City West,Mexico City Center and rural Mexico City

We studied HLA class I (HLA-A, -B) and class II (HLA-DRB1, -DQB1) alleles by PCR-SSP based typing in 1217 Mexicans from the Mexico City Metropolitan Area living in the northern (N = 751), southern (N = 52), eastern (N = 79), western (N = 33), and central (N = 152) Mexico City, and rural communities (N = 150), to obtain information regarding allelic and haplotypic frequencies. We found that the most frequent haplotypes include 11 Native American haplotypes. Admixture estimates revealed that the main genetic components are Native American (63.85 ± 1.55% by ML; 57.19% of Native American haplotypes) and European (28.53 ± 3.13% by ML; 28.40% of European haplotypes), and a less apparent African genetic component (7.61 ± 1.96% by ML; 7.17% of African haplotypes).     

Epidemiological aspects ofClostridium difficile in a pediatric hospital and its role in diarrheal disease

The influence of antibiotics on the frequency of colonization by Clostridium difficile and the presence of its cytotoxin in infants and older children was examined to determine its role in diarrheal disease. Cytotoxin was more closely associated with cases of diarrhea, both in infants and in children than the microorganism, although not significantly. The isolates were typed by means of sensitivity to bacteriophages and bacteriocins and their cytotoxigenic potential was also determined. Less than 30 % of the colonized patients had toxigenic strains. A study of strain variability over a four-year period in the same hospital showed that two bacteriophage-bacteriocin types and non-toxigenic strains predominated. The common presence of non-toxigenic strains could explain in part the lack of correlation between isolation of Clostridium difficile and diarrhea. Most of the non-toxigenic strains showed moderate resistance to tetracycline, a property which might explain their ability to persist for long periods in the hospital.     

Surveillance of methicillin-resistant Staphylococcus aureus in a pediatric hospital in Mexico City during a 7-year period (1997 to 2003): clonal evolution and impact of infection control

Between 1997 and 2000 a single multidrug-susceptible methicillin-resistant Staphylococcus aureus clone, M (sequence type 30 [ST30]-staphylococcal cassette chromosome mec [SCCmec] type IV), was present in a pediatric hospital in Mexico City, Mexico. In 2001 the international multidrug-resistant New York-Japan clone (ST5-SCCmec type II) was introduced into the hospital, completely replacing clone M by 2002.     

Evidence for the genetic unrelatedness of nosocomial vancomycin-resistant Enterococcus faecium strains in a pediatric hospital.

Vancomycin-resistant enterococci are now found with increasing frequency. Up to now, epidemiological studies of enterococci have been limited by the lack of convenient and accessible methods for comparing strains. In this study, we report an epidemiological investigation on 16 nosocomial vancomycin-resistant Enterococcus faecium strains isolated from 15 patients in four different wards of a children's hospital over a period of 17 months. Analysis of restriction fragment length polymorphism (RFLP) of total DNA and of ribosomal DNA regions (ribotyping) was used as a typing approach. Each strain produced a different total DNA RFLP pattern after HindIII and PvuII digestion, except for two strains that were isolated from a single patient and that gave indistinguishable patterns. In our system, ribotyping was less discriminative than RFLP of total DNA. This approach, therefore, shows the genetic unrelatedness of the nosocomial strains studied and excludes patient-to-patient strain transmission either in the same ward or between wards.     

Assessment of systemic genetic damage in pediatric inflammatory bowel disease

The etiology of distal site cancers in inflammatory bowel disease (IBD) is not well understood and requires further study. We investigated whether pediatric IBD patients' blood cells exhibit elevated levels of genomic damage by measuring the frequency of mutant phenotype (CD59-/CD55-) reticulocytes (MUT RET) as a reporter of PIG-A mutation, and the frequency of micronucleated reticulocytes (MN-RET) as an indicator of chromosomal damage. IBD patients (n = 18 new-onset disease, 46 established disease) were compared to age-matched controls (constipation or irritable bowel syndrome patients from the same clinic, n = 30) and young healthy adults age 19–24 (n = 25). IBD patients showed no indication of elevated MUT RET relative to controls (mean ± SD = 3.1 ± 2.3 × 10⁻⁶ vs. 3.6 ± 5.6 x 10⁻⁶, respectively). In contrast, 59 IBD patients where %MN-RET measurements were obtained, 10 exceeded the upper bound 90% tolerance interval derived from control subjects (i.e., 0.42%). Furthermore, each of the 10 IBD patients with elevated MN-RET had established disease (10/42), none were new-onset (0/17) (p = .049). Interestingly, each of the subjects with increased chromosomal damage was receiving anti-TNF based monotherapy at the time blood was collected (10/10, 100%), whereas this therapy was less common (20/32, 63%) among patients that exhibited ≤0.42% MN-RET (p = .040). The results clearly indicate the need for further work to understand whether the results presented herein are reproducible and if so, to elucidate the causative factor(s) responsible for elevated MN-RET frequencies in some IBD patients.     

Asthma attack frequency in a pediatric population

The joint occurrence of asthmatic symptomatology and psychological maladjustment does not necessarily imply a functional relationship between these two sets of phenomena. To test the contribution of psychological adjustment to the prediction of asthma symptomatology, a stepwise multiple regression was applied. Pulmonary and psychological adjustment variables were included in the regression analysis. The single best predictor of attack frequency was the pulmonary factor MMEF. Predictability was significantly increased with the family adjustment rating, the pulmonary factor FEV1, and the Child Adjustment Rating entered into the equation. The results were interpreted to be consistent with psychosomatic theory.     

Psychological practice in a pediatric rehabilitation hospital

Described 127 consecutive referrals to a newly formed psychological consultation service in a pediatric rehabilitation hospital. This setting served children whose needs for comprehensive care and long-term hospitalization could not be met effectively elsewhere in the community. The complex patient population included children with permanent mental and/or physical handicaps who had survived due to advances in medical technology, those with traumatic or congenital brain injury, failure to thrive, feeding problems, apnea, tracheostomy, child abuse, and psychosomatic disorders. A range of psychological services were offered, including specialized assessments and treatment planning for rehabilitation, home and school placement, direct treatment and monitoring of behavioral progress, and consultation with staff. Implications for the practice of pediatric psychology and service delivery to patients in pediatric rehabilitation settings are discussed.     

The burden of disease in Spain: results from the global burden of disease study 2010

Background

We herein evaluate the Spanish population’s trends in health burden by comparing results of two Global Burden of Diseases, Injuries, and Risk Factors Studies (the GBD studies) performed 20 years apart.

Methods

Data is part of the GBD study for 1990 and 2010. We present results for mortality, years of life lost (YLLs), years lived with disability, and disability-adjusted life years (DALYs) for the Spanish population. Uncertainty intervals for all measures have been estimated.

Results

Non-communicable diseases accounted for 3,703,400 (95% CI 3,648,270–3,766,720) (91.3%) of 4,057,400 total deaths, in the Spanish population. Cardiovascular and circulatory diseases were the main cause of mortality among non-communicable diseases (34.7% of total deaths), followed by neoplasms (27.1% of total deaths). Neoplasms, cardiovascular and circulatory diseases, and chronic respiratory diseases were the top three leading causes for YLLs. The most important causes of DALYs in 2010 were neoplasms, cardiovascular and circulatory diseases, musculoskeletal disorders, and mental and behavioral disorders.

Conclusions

Mortality and disability in Spain have become even more linked to non-communicable diseases over the last years, following the worldwide trends. Cardiovascular and circulatory diseases, neoplasms, mental and behavioral disorders, and neurological disorders are the leading causes of mortality and disability. Specific focus is needed from health care providers and policy makers to develop health promotion and health education programs directed towards non-communicable disorders.

     

The clinical,humanistic, and economic burden of palmoplantar pustulosis: a structured review

ABSTRACT

Introduction: Palmoplantar pustulosis (PPP) is a chronic, relapsing and refractory disease characterized by sterile pustules appearing on the palms and/or soles, accompanied by erythema, blistering, scales and/or keratinization. The overall burden of PPP in terms of its clinical impact, effect on patients and families, and economic consequences has not previously been investigated in a structured manner.

Areas covered: A structured search focused on identification of studies in PPP using specific search terms in PubMed and EMBASE® from 2005 onwards, with additional back-referencing and pragmatic searches. Outcomes of interest included clinical burden, humanistic burden, and economic burden.

Expert opinion: In cross-sectional studies, approximately 75% of all PPP patients suffer from active disease, with risk of relapse remaining constant over time. Patients’ health-related quality of life is significantly impaired, as expected for a disease affecting hands and feet. Tools have been described that assess the clinical as well as patient-reported burden of PPP; their performance in larger cohorts and/or clinical trials remains to be investigated. The key data limitations identified include inconsistent definitions for characterizing remission/relapse, and limited humanistic and economic burden data; future studies are required to address these evidence gaps.     

The changing burden of infectious disease in Europe

Infectious diseases continue to pose major public health challenges in developed, as well as developing, countries. The European Academies Science Advisory Council aims to integrate multidisciplinary analyses to define priorities for European surveillance of new, growing, or potential threats from antimicrobial resistance, vector-borne disease, and pandemic influenza. There is a concomitant need to apply such knowledge toward the development of improved health care and robust policies. We discuss how translational medicine can bridge these global issues by helping to mobilize resources between academia, industry, health care services, and policy-makers.