Reactive Hemophagocytic Lymphohistiocytosis After Hepatitis A Infection

Hemophagocytic lymphohistiocytosis (HLH) is a clinical condition which result in cytotoxic Tcell and antigen presenting cell overproduction and also their cytokines. Hepatitis A Virus associated HLH is very rare condition among other viruses. This condition is often difficult to diagnose, so treatment is often delayed. Here we present a case of adolescent boy with secondary virus associated HLH diagnosis with Hepatitis A infection and successfull treatment by short course of intravenous immunoglobulin and steroid.     

Prognostic utility of pre-transplantation [18F] fluorodeoxyglucose positron emission tomography/computed tomography in patients with diffuse large B-cell lymphoma who underwent rituximab,dexamethasone, high-dose cytarabine,carboplatin salvage chemotherapy

We analysed the outcomes of 62 patients with refractory/relapsed diffuse large B-cell lymphoma (rrDLBCL) who had pre-transplantation fluorodeoxyglucose positron emission tomography/computed tomography (PET/CT) after R-DHAC (rituximab, dexamethasone, high-dose cytarabine, carboplatin) salvage chemotherapy, and were evaluated using Deauville criteria and total lesion glycolysis (TLG). A positive pre-transplantation PET/CT with Deauville score of 5 was associated with shorter progression-free survival (PFS) (P = 0·01), while a Deauville score of 4 was not predictive of outcome. Only pre-transplant TLG was significantly associated with both PFS (P = 0·005) and overall survival (P = 0·03). TLG deserves to be further investigated in prospective studies.     

Sex Estimation From Sternal Measurements Using Multidetector Computed Tomography

We aimed to show the utility and reliability of sternal morphometric analysis for sex estimation.Sex estimation is a very important step in forensic identification. Skeletal surveys are main methods for sex estimation studies. Morphometric analysis of sternum may provide high accuracy rated data in sex discrimination.In this study, morphometric analysis of sternum was evaluated in 1 mm chest computed tomography scans for sex estimation. Four hundred forty 3 subjects (202 female, 241 male, mean age: 44 ± 8.1 [distribution: 30–60 year old]) were included the study. Manubrium length (ML), mesosternum length (2L), Sternebra 1 (S1W), and Sternebra 3 (S3W) width were measured and also sternal index (SI) was calculated. Differences between genders were evaluated by student t-test. Predictive factors of sex were determined by discrimination analysis and receiver operating characteristic (ROC) analysis.Male sternal measurement values are significantly higher than females (P < 0.001) while SI is significantly low in males (P < 0.001). In discrimination analysis, MSL has high accuracy rate with 80.2% in females and 80.9% in males. MSL also has the best sensitivity (75.9%) and specificity (87.6%) values. Accuracy rates were above 80% in 3 stepwise discrimination analysis for both sexes. Stepwise 1 (ML, MSL, S1W, S3W) has the highest accuracy rate in stepwise discrimination analysis with 86.1% in females and 83.8% in males.Our study showed that morphometric computed tomography analysis of sternum might provide important information for sex estimation.     

Suprathel®‐assisted surgical treatment of the hand in a dystrophic epidermolysis bullosa patient

Epidermolysis bullosa (EB) is a progressive familial disorder composed of dermal mucosal blisters, flexion contractures and pseudosyndactylies. Flexion contractures and pseudosyndactyly can be treated with surgery but usually require skin grafting. Because of poor wound healing, skin graft harvesting is a challenge in these patients. In order to prevent donor‐site morbidities due to skin graft harvesting some alloplastic materials were introduced. In this study, we focused on Suprathel^® as a new allograft material for covering the skin defects of a patient with dystrophic EB.     

Hemodynamic,Autonomic, and Vascular Effects of Exposure to Coarse Particulate Matter Air Pollution from a Rural Location

Background: Fine particulate matter (PM) air pollution is associated with numerous adverse health effects, including increased blood pressure (BP) and vascular dysfunction. Coarse PM substantially contributes to global air pollution, yet differs in characteristics from fine particles and is currently not regulated. However, the cardiovascular (CV) impacts of coarse PM exposure remain largely unknown.Objectives: Our goal was to elucidate whether coarse PM, like fine PM, is itself capable of eliciting adverse CV responses.Methods: We performed a randomized double-blind crossover study in which 32 healthy adults (25.9 ± 6.6 years of age) were exposed to concentrated ambient coarse particles (CAP; 76.2 ± 51.5 μg/m³) in a rural location and filtered air (FA) for 2 hr. We measured CV outcomes during, immediately after, and 2 hr postexposures.Results: Both systolic (mean difference = 0.32 mmHg; 95% CI: 0.05, 0.58; p = 0.021) and diastolic BP (0.27 mmHg; 95% CI: 0.003, 0.53; p = 0.05) linearly increased per 10 min of exposure during the inhalation of coarse CAP when compared with changes during FA exposure. Heart rate was on average higher (4.1 bpm; 95% CI: 3.06, 5.12; p < 0.0001) and the ratio of low-to-high frequency heart rate variability increased (0.24; 95% CI: 0.07, 0.41; p = 0.007) during coarse particle versus FA exposure. Other outcomes (brachial flow-mediated dilatation, microvascular reactive hyperemia index, aortic hemodynamics, pulse wave velocity) were not differentially altered by the exposures.Conclusions: Inhalation of coarse PM from a rural location is associated with a rapid elevation in BP and heart rate during exposure, likely due to the triggering of autonomic imbalance. These findings add mechanistic evidence supporting the biological plausibility that coarse particles could contribute to the triggering of acute CV events.Citation: Brook RD, Bard RL, Morishita M, Dvonch JT, Wang L, Yang HY, Spino C, Mukherjee B, Kaplan MJ, Yalavarthi S, Oral EA, Ajluni N, Sun Q, Brook JR, Harkema J, Rajagopalan S. 2014. Hemodynamic, autonomic, and vascular effects of exposure to coarse particulate matter air pollution from a rural location. Environ Health Perspect 122:624–630; http://dx.doi.org/10.1289/ehp.1306595     

Differential effects of early life stress on hippocampus and amygdala volume as a function of emotional abilities

Early life stress (ELS) is known to have considerable influence on brain development and affective functioning. Previous studies in clinical populations have shown that hippocampus and amygdala, two central structures of limbic emotion processing circuits, are predominantly affected by early stress exposure. Given the inconsistent findings on ELS‐related effects in healthy populations and the associations of ELS and affective functioning, the question arises which additional emotion‐relevant variables need to be considered to better understand the effects of ELS. We, therefore, investigated the volume of hippocampus and amygdala in 25 high alexithymic (h‐ALEX) and 25 low alexithymic (l‐ALEX) individuals, which were matched with regard to ELS, but significantly differed in their degree of emotional functioning. Volumetric analyses were performed using FSL‐FIRST, a method to automatically segment subcortical structures on T1‐weighted magnetic resonance images. Alexithymia was assessed using the Toronto Alexithymia Scale and Bermond–Vorst Alexithymia Questionnaire. ELS was assessed by Childhood Trauma Questionnaire (CTQ) and Early Trauma Inventory. Our data showed that ELS was negatively associated with right hippocampus volume in h‐ALEX individuals, while there was no such association in the l‐ALEX group. Furthermore, ELS was positively associated with left amygdala volume in l‐ALEX individuals, but not in individuals with high levels of alexithymia. The present study emphasizes a substantial relationship between intrapersonal factors, such as alexithymia and neural alterations related to the experience of ELS. Longitudinal study designs are necessary to pursue the question of how emotional abilities interact with individual adaptations to early stress exposure on the neural level. © 2014 Wiley Periodicals, Inc.     

Atherosclerotic renal artery stenosis as a cause for hypertension in an adolescent patient

Background

Atherosclerosis causing renal artery stenosis (RAS) is one of the most common secondary causes of hypertension in adults, but is rare in children.

Case-diagnosis/treatment

RAS associated with coronary artery stenosis was diagnosed in a teenage patient who presented with intermittent chest pain and elevated blood pressures for 6 years. The diagnosis of RAS was suspected after physical examination revealed an abdominal bruit. Renal ultrasound with Doppler revealed normal appearing kidneys with high velocity in the aorta and renal arteries. Computed tomography angiography (CTA) of the chest and abdomen demonstrated generalized calcified atherosclerotic narrowing of the arteries including the renal, celiac, superior mesenteric and coronary arteries in the setting of hyperlipidemia. The lipid panel revealed hypercholesterolemia with elevated serum plant sterol concentrations, suggesting the diagnosis of sitosterolemia. Cardiac catheterization demonstrated left anterior descending artery and left circumflex artery stenosis, which required bypass of the left anterior descending artery and stenting of the left circumflex artery. Aggressive lipid control was recommended and he was treated medically with a beta-blocker, low-dose angiotensin-converting enzyme inhibitor, aspirin, statin, and clopidogrel.

Conclusion

Although very rare, generalized atherosclerosis caused by genetic disorders should be considered an underlying cause for severe hypertension in children with hyperlipidemia.     

Clinical Heterogeneity of Immunodysregulation,Polyendocrinopathy, Enteropathy,X-linked: Pulmonary Involvement as a Non-Classical Disease Manifestation

Purpose

IPEX (Immunodysregulation, Polyendocrinopathy, Enteropathy, X-linked) is a rare X-linked recessive life-threatening disorder characterized by autoimmunity and early death. Pulmonary complication related with IPEX has not been elucidated exactly. Here, we report 4 IPEX patients, 3 of which died from severe pulmonary disease.

Methods

Clinical data and laboratory findings including autoantibodies, immunoglobulin levels as well as number of T, B and NK cells were evaluated. FOXP3 expression and T reg activity were analyzed. The FOXP3 gene was sequenced and RNA analysis was performed.

Results

Patient I (PI) presented with nephrotic syndrome at 3 years of age and then developed autoimmune hepatitis without eczema, enteropathy or high IgE and died at 9 years of age due to acute respiratory distress syndrome (ARDS). Two cousins of PI had the same hypomorphic splice site mutation leading to a deletion of 27 amino acids, but normal FOXP3 protein expression and normal suppressive capacity of T reg in a proliferation inhibition assay. However, they exhibited typical symptoms such as eczema, diabetes and enteropathy with eosinophilia at early age (PII, PIII) and were transplanted in infancy. One of them had severe respiratory distress right after birth (PIII). Patient IV from another family presented with chronic diarrhea without autoimmune manifestations and died due to ARDS.

Conclusion

Lung disease related to IPEX syndrome has not been reported before and this entity could be a critical factor in disease outcome.