Congenital aplasia of the optic chiasm and esophageal atresia: a case report

<p>Abstract</p> <p>Introduction</p> <p>The complete absence of the chiasm (chiasmal aplasia) is a rare clinical condition. Hypoplasia of the optic nerve and congenital nystagmus are almost invariably associated characteristics. Microphthalmos or anophthalmos are common features in chiasmal aplasia, while central nervous system abnormalities are less frequent. Esophageal atresia can be isolated or syndromic. In syndromic cases, it is frequently associated with cardiac, limb, renal or vertebral malformations and anal atresia. More rarely, esophageal atresia can be part of anophthalmia-esophageal-genital syndrome, which comprises anophthalmia or microphthalmia, genital abnormalities, vertebral defects and cerebral malformations. Here, a previously unreported case of chiasmal aplasia presenting without microphthalmos and associated with esophageal atresia is described.</p> <p>Case presentation</p> <p>Aplasia of the optic chiasm was identified in a Caucasian Italian 8-month-old boy with esophageal atresia. An ultrasound examination carried out at 21 weeks' gestation revealed polyhydramnios. Intrauterine growth retardation, esophageal atresia and a small atrial-septal defect were subsequently detected at 28 weeks' gestation. Repair of the esophageal atresia was carried out shortly after birth. A jejunostomy was carried out at four months to facilitate enteral feeding. The child was subsequently noted to be visually inattentive and to be neurodevelopmentally delayed. Magnetic resonance imaging revealed chiasmal aplasia. No other midline brain defects were found. His karyotype was normal.</p> <p>Conclusion</p> <p>If achiasmia is a spectrum, our patient seems to depict the most severe form, since he appears to have an extremely severe visual impairment. This is in contrast to most of the cases described in the literature, where patients maintain good--or at least useful-- visual function. To the best of our knowledge, the association of optic nerve hypoplasia, complete chiasmal aplasia, esophageal atresia and atrial-septal defect, choanal atresia, hypertelorism and psychomotor retardation has never been described before.</p

A Novel Concept of Container House with Zero Energetic Consumption

This paper presents a novel concept of acclimatized container to increase people comfort in case of temporary housing. It is based on the ZEBRA concept (Zero Energy Building Renewable Addicted) concept studied by Università of Modena e Reggio Emilia. The original concept developed for industrial building has been extended to mobile metallic housing systems such as the containers transported by trucks which are used for troops and military command during field operations. This system does not require any external source of energy. It requires only the presence of a water well or drilling a hole to place inside a closed loop exchanger which is used to stabilize temperature of internal water which is used as a dynamic thermal barrier which maintains in the wellness conditions inside the mobile housing equipment. Energetic costs of this system are related only to the very reduced energy necessary for water pumping operations. It could be easily produced, together with necessary energy for light and instrumentation by a photovoltaic ceiling. The absence of fenestrations will be obviated by optic-fiber-based external light capturing and distributing, together with air ventilation system. This paper presents the energetic balance of this military field and building concept which can be used also to reduce the surplus of naval container in the harbors of all the occidental countries due to the necessity of the cargo ships to navigate with a high load. By these reasons the presented Zebra concept can be not only a zero energy consumption solution but also a very inexpensive solution for any temporary residential exigency such as temporary construction sites and military camps. Constructive details and container temporary housing design are provided

Candida glabrata meningitis and endocarditis: a late severe complication of candidemia

We report an unusual case of Candida glabrata meningitis and endocarditis in a young Caucasian woman with a prosthetic aortic valve and suffering from a dissecting thoraco-abdominal aortic aneurysm. C. glabrata was isolated from culture of the cerebrospinal fluid. Candida infection of the central nervous system is an uncommon manifestation of disseminated infection due to Candida species. Our case report also highlights the intrinsic resistance of C. glabrata to azoles

Liver disease severity and low bone mineral density in HIV mono-infected and HIV/HCV co-infected patients

Background: In this study we assess: prevalence of osteopenia, osteoporosis and reduced bone mineral density in HIV infection and HIV / HCV co-infection;risk factors associated with reduced bone mineral density(BMD); relationship between bone mineral density and reduced liver fibrosis (FE) measured as "liver stiffness" (LS), by FibroScan ® in patients co-infected with HIV / HCV; relationship between reduced bone mineral density and cardiovascular risk assessed with the 10-year Framingham risk score (FRS) in HIV / HCV co-infected Patients And Methods: One hundred and ninety-four HIV-infected subjects (121 males =62% and 73 females = 38 %): 129 HIV-infected ( 66.5 % ) and 65 HIV / HCV co-infected (33.5 %) were consecutively enrolled. The median age was 48, 89/194 (45.9 %) patients were older than 50 years HIV-RNA, CD4+ T-cell count and data on antiretroviral therapy were also recorded. Both biochemical bone turnover markers and BMD, assessed by dual-energy X-ray absorptiometry (DEXA) were recorded in the HIV-cases and controls. The subjects underwent liver ultrasonography and transient elastography using Fibroscan. Results: The prevalence of reduced bone mineral density and osteoporosis was significantly higher in HIV / HCV co-infected compared to HIV mono-infected (P <0.04 and P <0.05, respectively). HIV/HCV co-infected patients: The values of bone alkaline phosphatase negatively correlated with DEXA Z-score lumbar and femoral (P <0.05, P <0.02). The Z-score femoral artery was negatively correlated with the score of PI exposure (P <0.02). BMI was positively correlated with the femoral DEXA Z-score (P <0.05). The LS was negatively correlated with the femoral DEXA Z-score (P <0.01), the FIB-4 was negatively correlated with DEXA Z-score lumbar and femoral (P <0.01). When we analyzed the correlation of LS with DEXA Z-score in relation to sex, it showed a significant correlation between bone loss and severity of fibrosis only in females [lumbar Z-score -0.5 (p <0.04) (Figure 1) , femoral Z-score -0.5 (p <0.04)].Multiple logistic regression: among all the variables found to be significant on univariate analysis, BMI was positively correlated with DEXA Z-score lumbar and femoral artery in HIV-mono-infected (β = 0.3, P <0.01, β = 0:45, P <0.0001). The Col-HDL was independently correlated positively with lumbar DEXA Z-score (β = 0.2, P <0.02). In patients with HIV / HCV co-infected the BMI was positively correlated with the femoral DEXA Z-score (β = 0:45, P <0.0001). The LS was an independent predictor of bone loss at the femoral DEXA Z-score (β = -0.43, P <0.003). The FIB-4 was negatively correlated with lumbar DEXA Z-score (β = -0.43, P <0.004).Conclusions:The prevalence of reduced bone mineral density / osteoporosis was significantly higher in HIV/HCV co-infected patients compared to HIV- infected . When patients were stratified according to sex , the LS was an independent predictor of bone loss only in HIV / HCV co- infected females . These data suggest that viral hepatitis increases the risk of bone loss in females with HIV infect! ion but not in males. A higher BMI and higher Col-HDL values were protective predictors of bone mineral density

Dairy calcium intake and lifestyle risk factors for bone loss in hiv-infected and uninfected mediterranean subjects

Abstract Background Despite the reported high prevalence of osteoporosis in the human immunodeficiency virus (HIV)-population, there have been no previous studies examining dairy calcium intake and bone mineral density (BMD) in HIV-subjects. We assessed the prevalence of low BMD in HIV-infected and uninfected subjects and analyzed the effects of calcium intake, lifestyle and HIV-related risk factors on BMD. Methods One hundred and twelve HIV-infected subjects were consecutively enrolled. Seventy- six HIV-uninfected subjects matched for age and sex were enrolled as the control group. The HIV-subjects were interviewed about lifestyle habits and completed a weekly food-frequency questionnaire to estimate calcium intake. HIV-RNA, CD4+ T-cell count and data on antiretroviral therapy were also recorded. Both biochemical bone turnover markers and BMD, assessed by dual-energy radiographic absorptiometry (DXA) were recorded in the HIV-cases and controls. We also calculated the 10-year fracture risks using the WHO FRAX equation. Results Osteoporosis prevalence was significantly higher in the HIV-cases than controls (p p p BMI values were significantly correlated with dairy intake quartiles (p p p p p p p Conclusions Among the foods rich in calcium, yogurt was a protective predictor of BMD in HIV-subjects. HIV/HCV co-infection, nadir CD4 + T-cell count < 200 cells/μL and drug addiction were independent predictors of severe BMD. Promoting behavioral changes in food intake and lifestyle, aimed at the primary prevention of bone disease in the chronically-infected subjects seems to be essential for implementing medical intervention in these cases.</p

Microbial Abundance and Enzyme Activity Patterns: Response to Changing Environmental Characteristics along a Transect in Kongsfjorden (Svalbard Islands)

Svalbard archipelago is experiencing the effects of climate changes (i.e., glaciers&rsquo; thickness reduction and glacier front retreat), but how ice melting affects water biogeochemistry is still unknown. Microbial communities often act as environmental sentinels, modulating their distribution and activity in response to environmental variability. To assess microbial response to climate warming, within the ARctic: present Climatic change and pAst extreme events (ARCA) project, a survey was carried out along a transect in Konsfjorden from off-shore stations towards the Kronebreen glacier. Total bacterial abundance and the fraction of actively respiring cells (labelled by cyanotetrazolium chloride, CTC), cultivable heterotrophic bacterial abundance, and extracellular enzymatic activities (leucine aminopeptidase (LAP), beta-glucosidase (GLU), and alkaline phosphatase (AP)) were measured. In addition, water temperature, salinity, dissolved oxygen, turbidity, total suspended matter (TSM), particulate and chromophoric dissolved organic matter (CDOM), chlorophyll-a (Chl-a), and inorganic compounds were determined, in order to evaluate whether variations in microbial abundance and metabolism were related with changes in environmental variables. Colder waters at surface (3.5&ndash;5 m) depths and increased turbidity, TSM, and inorganic compounds found at some hydrological stations close to the glacier were signals of ice melting. CDOM absorption slope values (275&ndash;295 nm) varied from 0.0077 to 0.0109 nm&minus;1, and total bacterial cell count and cultivable heterotrophic bacterial abundance were in the order of 106 cells/mL and 103 colony forming units/mL, respectively. Enzymatic rates &lt;1.78, 1.25, and 0.25 nmol/L/h were recorded for AP, LAP, and GLU, respectively. Inorganic compounds, TSM, and turbidity correlated inversely with temperature; AP was significantly related with CDOM absorption spectra and heterotrophic bacteria (r = 0.59, 0.71, p &lt; 0.05); and LAP with Chl-a, Particulate Organic Carbon (POC) and Particulate Organic Nitrogen (PON) (0.97, 0.780, 0.734, p &lt; 0.01), suggesting that fresh material from ice melting stimulated the metabolism of the cultivable fraction

Dairy calcium intake and lifestyle risk factors for bone loss in hiv-infected and uninfected mediterranean subjects

BACKGROUND: Despite the reported high prevalence of osteoporosis in the human immunodeficiency virus (HIV)-population, there have been no previous studies examining dairy calcium intake and bone mineral density (BMD) in HIV-subjects.We assessed the prevalence of low BMD in HIV-infected and uninfected subjects and analyzed the effects of calcium intake, lifestyle and HIV-related risk factors on BMD. METHODS: One hundred and twelve HIV-infected subjects were consecutively enrolled. Seventy- six HIV-uninfected subjects matched for age and sex were enrolled as the control group. The HIV-subjects were interviewed about lifestyle habits and completed a weekly food-frequency questionnaire to estimate calcium intake. HIV-RNA, CD4+ T-cell count and data on antiretroviral therapy were also recorded. Both biochemical bone turnover markers and BMD, assessed by dual-energy radiographic absorptiometry (DXA) were recorded in the HIV-cases and controls. We also calculated the 10-year fracture risks using the WHO FRAX equation. RESULTS: Osteoporosis prevalence was significantly higher in the HIV-cases than controls (p < 0.05). BMI values were positively correlated with BMD (p < 0.05). Vitamin D levels were lower in the HIV-subjects (p < 0.02). No correlation was found with daily calcium intake.BMI values were significantly correlated with dairy intake quartiles (p < 0.003). In HIV-subjects, the mean of FRAX score was 1.2 % for hip and 4.7 % for major osteoporotic fractures. On multivariate analysis of the lumbar spine DXA T-score, age (p < 0.005) and HIV/hepatitis C virus co-infection (p < 0.0001) were negatively correlated with BMD, while yogurt intake was a protective predictor of BMD (p < 0.05). In the femur DXA T-score, age (p < 0.01), nadir CD4 + T-cell count < 200 cells/μL (p < 0.05) and drug addiction ( p < 0.0001) were negatively correlated with BMD. CONCLUSIONS: Among the foods rich in calcium, yogurt was a protective predictor of BMD in HIV-subjects. HIV/HCV co-infection, nadir CD4 + T-cell count < 200 cells/μL and drug addiction were independent predictors of severe BMD. Promoting behavioral changes in food intake and lifestyle, aimed at the primary prevention of bone disease in the chronically-infected subjects seems to be essential for implementing medical intervention in these cases