A Case Report of Ablepharon-Macrostomia Syndrome with Amniotic Membrane Grafting

We describe a rare case of an infant who was born with multiple congenital anomalies, including the absence of eyelids. This patient had many dysmorphic features consistent with a severe phenotype of ablepharon-macrostomia syndrome (AMS) including a fish-like appearance of the mouth, rudimentary ears, absence of body hair, thin skin, absent nipples, abdominal distension, and genital abnormalities. Upon presentation, there was severe exposure keratopathy causing large bilateral sterile ulcers culminating in corneal melting of both eyes. An amniotic membrane graft was used to attempt to maintain the corneal surface integrity. However, because of the late presentation, the corneas could not be salvaged. Extensive surgical reconstruction of both eyelids and bilateral penetrating keratoplasty was ultimately performed successfully to protect the ocular surfaces while trying to maximize the visual potential. Early amniotic membrane grafting may be done at the bedside and may help preserve the ocular in patients with severe eyelid deformities until more definitive treatment is performed.Key Words: Ablepharon, Macrostomia, Congenital eyelid anomalies, Absent hair, Absent eyelids     

Lean Body Mass Associated with Upper Body Strength in Healthy Older Adults While Higher Body Fat Limits Lower Extremity Performance and Endurance

Impaired strength adversely influences an older person’s ability to perform activities of daily living. A cross-sectional study of 117 independently living men and women (age = 73.4 ± 9.4 year; body mass index (BMI) = 27.6 ± 4.8 kg/m²) aimed to assess the association between body composition and: (1) upper body strength (handgrip strength, HGS); (2) lower extremity performance (timed up and go (TUG) and sit to stand test (STS)); and (3) endurance (6-minute walk (SMWT). Body composition (% fat; lean body mass (LBM)) was assessed using bioelectrical impedance. Habitual physical activity was measured using the Minnesota Leisure Time Physical Activity Questionnaire (MLTPA) and dietary macronutrient intake, assessed using 24 h recalls and 3-day food records. Regression analyses included the covariates, protein intake (g/kg), MLTPA, age and sex. For natural logarithm (Ln) of right HGS, LBM (p < 0.001) and % body fat (p < 0.005) were significant (r² = 46.5%; p < 0.000). For left LnHGS, LBM (p < 0.000), age (p = 0.036), protein intake (p = 0.015) and LnMLTPA (p = 0.015) were significant (r² = 0.535; p < 0.000). For SMW, % body fat, age and LnMLTPA were significant (r² = 0.346; p < 0.000). For STS, % body fat and age were significant (r² = 0.251; p < 0.000). LBM is a strong predictor of upper body strength while higher % body fat and lower physical activity are associated with poorer outcomes on tests of lower extremity performance.     

Inconsistent Counselor Fidelity in Delivering an Evidence-Based Adherence Intervention During a PrEP Trial

AIDS and Behavior - Evidence-based adherence counseling interventions must be delivered with fidelity to ensure that their effectiveness is retained, but little is known regarding how counselors in...     

How can relapses be detected and prevented in primary systemic small-vessel vasculitides?

Relapse is an important outcome measure in patients with Wegener's granulomatosis, microscopic polyangiitis and Churg-Strauss syndrome. Although relapses are common in these diseases, it remains unclear why these occur and whether they are influenced by exogenous or endogenous factors. A key to minimizing the consequences of relapse is early recognition through monitoring. This is particularly essential to detect glomerulonephritis that is often asymptomatic and can be rapidly progressive. While the presence of relapse is currently based on objective evidence of active disease, investigations seek to identify factors that may distinguish patients at risk of relapse or markers that reliably predict the occurrence of relapse prior to organ injury. With the ability to successfully induce remission and the toxicities of available therapies, the relapse rate has become a critical issue in assessing the efficacy of new treatments. Recent clinical trials have sought to investigate safer therapeutic options that decrease disease relapse.     

The association of postural changes in systolic blood pressure and mortality in persons with hypertension: the Hypertension Detection and Follow-up Program experience

Participants in the Hypertension Detection and Follow-up Program (HDFP) were classified on the basis of baseline standing minus sitting systolic blood pressure into four groups (less than or equal to -20 [group 1], -19 to 0 [group 2], 1 to 20 [group 3], and greater than 20 mm Hg [group 4]) to study 5 year mortality. Group 1, 3.3% of the total, contained those participants who had postural hypotension. The 5 year total and age-adjusted mortality rates for these groups were significantly different (p less than .04), with group 1 having the highest rates. To account for the possible confounding effects of certain baseline risk factors--age, sex, race, prior antihypertensive treatment, randomization group, diabetes, end-organ damage, sitting diastolic and systolic blood pressures, pulse, hematocrit, smoking status, and relative weight (percent of ideal weight)--in assessing group differences in mortality rates, a multiple logistic model was used. Relative weight proved to be a confounding factor for the association of drop in postural systolic blood pressure with mortality. However, there is an interaction between history of diabetes and postural change in systolic blood pressure. Thus, postural hypotension may indicate a poor prognosis in diabetic hypertensive patients.     

Biologic therapies in the vasculitides

Monoclonal antibody and recombinant DNA technologies have led to the development of biologic therapies capable of directly targeting selected components of the immune response. With the steady expansion of knowledge regarding the mechanisms of vascular inflammation, the safety and efficacy of biologic agents in the vasculitic diseases are being increasingly investigated. By targeting specific effector mechanisms involved in the pathogenesis of vasculitis, these agents may provide a less toxic means of inducing remission and lessening relapse. However, the study of biologic therapies in the vasculitides must be approached with caution, as unanticipated effects on disease activity and disease-specific toxicities can occur. Studies to examine these agents must recognize the potential for active vasculitis to be organ- or life-threatening as well as the current existence of effective therapies. In the research setting, investigation of biologic agents in the treatment of vasculitic diseases may also provide important insights into pathogenesis of these syndromes.