Lumbar Lipomeningomyelocele Associated with Multiple Café au Lait Spots: A Case Report

We report on a child with several café au lait spots in association with a lumbar lipomeningomyelocele as an apparently new association. Cutaneous markers, the identification of which plays a crucial role in the early diagnosis and management of spinal malformations, can accompany occult spinal dysraphism. Herein we report a case of lumbar lipomeningomyelocele associated with an overlying café au lait spot that served as a marker of occult spinal dysraphism. The patient also had segmental café au lait spots on the face, making the association unique.     

Long‐Term Follow‐Up of Pediatric Trachyonychia

Pediatric trachyonychia is an acquired nail disease that can cause distress to families. It is a poorly understood disease, and long‐term follow‐up data are lacking. We present an institutional review of 11 children with isolated pediatric trachyonychia followed over time. Children with the diagnosis of pediatric trachyonychia were identified and invited to participate. Pictures were taken on follow‐up and a questionnaire was answered. Exclusion criteria include having another diagnosis at the initial visit that causes nail dystrophy. Eleven patients with the diagnosis of pediatric trachyonychia were available for follow‐up. The mean age of appearance was 2.7 years (range 2–7 yrs) and the average follow‐up was 66 months (range 10–126 mos). Nine patients were treated with potent topical corticosteroids, one used only petrolatum, and one took vitamin supplements. One patient was found to have an additional skin and hair diagnosis of alopecia areata on follow‐up. On follow‐up, 82% noted improvement of the nails, whereas 18% noted no change. A majority of cases of pediatric trachyonychia are isolated and improve with time, regardless of treatment.     

Atypical Abnormal Pulmonary Vein Drainage with Atrial Septal Defect: Surgical Treatment

Sinus venosus atrial septal defect (SV‐ASD) usually coexists with partial anomalous pulmonary vein connection (PAPVC). It is a difficult diagnosis in transthoracic echocardiography (TTE) due to eccentric position of defects. We present a rare case of atypical anatomical variation in PAPVC, which was never described before. Two right pulmonary veins drained into superior vena cava, which overrode SV‐ASD and interatrial septum, a third pulmonary vein into the right atrium. Complete diagnosis could not be set after TTE, nor transesophageal echocardiography, whereas angio‐CT was finally conclusive. This diagnostic approach allowed the surgical planning.     

Specific alterations in plasma proteins during depressed,manic, and euthymic states of bipolar disorder

Bipolar disorder (BD) is a common psychiatric mood disorder affecting more than 1-2% of the general population of different European countries. Unfortunately, there is no objective laboratory-based test to aid BD diagnosis or monitor its progression, and little is known about the molecular basis of BD. Here, we performed a comparative proteomic study to identify differentially expressed plasma proteins in various BD mood states (depressed BD, manic BD, and euthymic BD) relative to healthy controls. A total of 10 euthymic BD, 20 depressed BD, 15 manic BD, and 20 demographically matched healthy control subjects were recruited. Seven high-abundance proteins were immunodepleted in plasma samples from the 4 experimental groups, which were then subjected to proteome-wide expression profiling by two-dimensional electrophoresis and matrix-assisted laser desorption/ionization-time-of-flight/time-of-flight tandem mass spectrometry. Proteomic results were validated by immunoblotting and bioinformatically analyzed using MetaCore. From a total of 32 proteins identified with 1.5-fold changes in expression compared with healthy controls, 16 proteins were perturbed in BD independent of mood state, while 16 proteins were specifically associated with particular BD mood states. Two mood-independent differential proteins, apolipoprotein (Apo) A1 and Apo L1, suggest that BD pathophysiology may be associated with early perturbations in lipid metabolism. Moreover, down-regulation of one mood-dependent protein, carbonic anhydrase 1 (CA-1), suggests it may be involved in the pathophysiology of depressive episodes in BD. Thus, BD pathophysiology may be associated with early perturbations in lipid metabolism that are independent of mood state, while CA-1 may be involved in the pathophysiology of depressive episodes.     

Trait modality distribution of aquatic macrofauna communities as explained by pesticides and water chemistry

Analyzing functional species’ characteristics (species traits) that represent physiological, life history and morphological characteristics of species help understanding the impacts of various stressors on aquatic communities at field conditions. This research aimed to study the combined effects of pesticides and other environmental factors (temperature, dissolved oxygen, dissolved organic carbon, floating macrophytes cover, phosphate, nitrite, and nitrate) on the trait modality distribution of aquatic macrofauna communities. To this purpose, a field inventory was performed in a flower bulb growing area of the Netherlands with significant variation in pesticides pressures. Macrofauna community composition, water chemistry parameters and pesticide concentrations in ditches next to flower bulb fields were determined. Trait modalities of nine traits (feeding mode, respiration mode, locomotion type, resistance form, reproduction mode, life stage, voltinism, saprobity, maximum body size) likely to indicate pesticides impacts were analyzed. According to a redundancy analysis, phosphate -and not pesticides- constituted the main factor structuring the trait modality distribution of aquatic macrofauna. The functional composition could be ascribed for 2–4 % to pesticides, and for 3–11 % to phosphate. The lack of trait responses to pesticides may indicate that species may have used alternative strategies to adapt to ambient pesticides stress. Biomass of animals exhibiting trait modalities related to feeding by predation and grazing, presence of diapause form or dormancy, reproduction by free clutches and ovoviviparity, life stage of larvae and pupa, was negatively correlated to the concentration of phosphate. Hence, despite the high pesticide pollution in the area, variation in nutrient-related stressors seems to be the dominant driver of the functional composition of aquatic macrofauna assembly in agricultural ditches.