Israel Medical Association Journal

The attention of the world is focused on the coronavirus disease-2019 (COVID-19) pandemic. There is s general awareness that certain population groups are at greater risk. However, some other populations may be transparent and may not be receiving the attention they warrant. We focused on those with intellectual disability explaining why they are vulnerable during the current pandemic and require special attention

Background: Maternal exposure to alcohol during pregnancy can lead to a wide range of clinical manifestations in their offspring, termed fetal alcohol spectrum disorder (FASD). In Israel, relatively few cases of FASD have been diagnosed and the prevalence has not been systematically evaluated.

Objectives: To determine the number of children with FASD or at risk for FASD in a select population of high risk patients seen at a clinic evaluating foster and adopted children.

Methods: Israeli children under 2 years old who were candidates for domestic adoption or in foster care were prospectively evaluated for clinical manifestations of FASD, and information was obtained regarding parental use of alcohol or other illicit drugs.

Results: Of the 100 patients prospectively evaluated, 8 had mothers with a known history of alcohol consumption during pregnancy. Two of the children had fetal alcohol syndrome (FAS) without known maternal exposure to alcohol and two had partial FAS. Eleven other children were at risk for development of one of the diagnostic categories of FASD.

Conclusions: In a population of pre-adoption and foster children, 15% either had manifestations of FASD or were at risk for developing FASD. Although this is a select high risk population, the data from this study strongly suggest a greater prevalence of FASD than previously assumed. Under-diagnosis of FASD is detrimental to affected children who could benefit from interventions designed to meet the needs of FASD victims.
 

Background: Down syndrome is one of the most common chromosomal abnormalities. Children and adults with DS[1] have significant medical problems and require life-long medical follow-up.

Objectives: To determine the adequacy of medical surveillance of individuals with DS as recommended by the American Academy of Pediatrics.

Methods: The study was conducted at a multidisciplinary center specializing in the care of DS during the period 2004–2006. At their first visit to the Center, caregivers of individuals with DS were questioned about the medical status of their child including previous evaluations. Medical records brought in by the parents were reviewed.

Results: The caregivers of 150 individuals with DS (age ranging from newborn to 48 years old, median age 5 years) were interviewed and medical records were reviewed. The prevalence of specific medical problems differed between our population and the reported prevalence from other surveys. For example, 39.3% of our population had documented auditory deficits while the reported prevalence is 75%. For gastrointestinal and thyroid disease, the prevalence was higher in the studied population than that reported in the literature. In terms of compliance with the AAP[2] recommendations, most children (94%) underwent echocardiography, but only 42.7% and 63.3% had been tested for auditory or visual acuity respectively. Only 36.3% over the age of 3 years had cervical spine films.
Discussion: Many individuals with DS are not receiving appropriate medical follow-up and the implications of inadequate surveillance can be serious

Isolated ventricular non-compaction is a frequently underdiagnosed rare congenital cardiomyopathy. The importance of diagnosing this cardiomyopathy lies especially in asymptomatic patients, screening relatives of index cases in order to focus on their follow-up and searching for criteria warranting prophylactic anticoagulation, implantable cardioverter defibrillator and anti-remodeling drugs such as angiotensin-converting inhibitors. We present the clinical and imaging characteristics of this entity and discuss some of the therapeutic dilemmas involving these patients.
 

Background: Myeloperoxidase levels were shown to reflect endothelial dysfunction, inflammation, atherosclerosis and oxidative stress.

Objectives: To examine the role of circulating myeloperoxidase, a leukocyte-derived enzyme, as a predictor of mortality in patients with congestive heart failure.

Methods: Baseline serum MPO[1] levels were measured in 285 consecutive CHF[2] patients and 35 healthy volunteers. N-terminal pro-brain natriuretic peptide and high sensitivity C-reactive protein concentrations were also measured. The primary outcome endpoint was overall mortality.

Results: MPO levels were significantly elevated in patients with CHF compared to healthy volunteers (P = 0.01). During a mean follow-up of 40.9 ± 11.3 months there were 106 deaths. On a univariate Cox regression analysis MPO levels were of marginal value (P = 0.07) whereas NT-proBNP[3] was of considerable value (P < 0.0001) in predicting all-cause mortality. By dividing our cohort according to NT-proBNP levels into high, intermediate and low risk groups a clear difference in mortality was shown. By further dividing the patient cohort according to MPO levels above or below the median (122.5 ng/ml), mortality prediction improved in the patients with intermediate NT-proBNP values.

[1] MPO = myeloperoxidase

[2] CHF = congestive heart failure

[3] NT-proBNP = N-terminal pro-brain natriuretic peptide

Background: Congestive heart failure is extremely common in octogenarians and is associated with severe fatigue, shortness of breath, recurrent hospitalizations, and death. These patients, many of whom are anemic, are often resistant to standard CHF[1] therapy including angiotensin-converting enzyme inhibitors, beta-blockers and diuretics.

Objectives: To examine whether correction of the anemia (hemoglobin <12 g/dl) in CHF patients lowers their resistance to therapy.

Methods: Forty octogenarians with anemia and severe resistant CHF were administered a combination of subcutaneous erythropoietin and intravenous iron sucrose.

Results: This combination therapy led to a marked improvement in cardiac function, shortness of breath and fatigue, a marked reduction in the rate of hospitalization and a stabilizing of renal function.

Conclusion: Anemia appears to be an important but ignored contributor to the progression of CHF, and its correction may improve cardiac and renal status as well as the quality of life in elderly patients.