Atypical right diaphragmatic hernia (hernia of Morgagni), spigelian hernia and epigastric hernia in a patient with Williams syndrome: a case report

<p>Abstract</p> <p>Introduction</p> <p>Williams syndrome is rare genetic disorder resulting in neurodevelopmental problems. Hernias of the foramen of Morgagni are rare diaphragmatic hernias and they mostly present on the right side, in the anterior mediastinum. They are usually asymptomatic and are difficult to diagnose, especially in patients with learning disabilities.</p> <p>Case presentation</p> <p>This 49-year-old woman with Williams syndrome, cognitive impairment and aortic stenosis presented to physicians with right-sided chest pain. She had previously undergone repair of her right spigelian and epigastric hernia. Her abdominal examination was unremarkable. Chest X-ray suggested right-sided diaphragmatic hernia and pleural effusion for which she received treatment. The computed tomography scan showed a diaphragmatic hernia with some collapse/consolidation of the adjacent lung. Furthermore, the patient had aortic stenosis and was high risk for anaesthesia (ASA grade 3). She underwent successful laparoscopic repair of her congenital diaphragmatic hernia leading to a quick and uneventful postoperative recovery.</p> <p>Conclusion</p> <p>These multiple hernias suggest that patients with Williams syndrome may have some connective tissue disorder which makes them prone to develop hernias especially associated with those parts of the body which may have intracavity pressure variations like the abdomen. Diaphragmatic hernia may be the cause of chest pain in these patients. A computed tomography scan helps in early diagnosis, and laparoscopic repair helps in prevention of further complications, and leads to quick recovery especially in patients with learning disabilities. In the presence of significant comorbidities, a less invasive operative procedure with quick recovery becomes advisable.</p

Cool Farm Tool Water: A global on-line tool to assess water use in crop production

The agricultural sector accounts for 70% of all water consumption and poses great pressure on ground water resources. Therefore, evaluating agricultural water consumption is highly important as it allows supply chain actors to identify practices which are associated with unsustainable water use, which risk depleting current water resources and impacting future production. However, these assessments are often not feasible for crop producers as data, models and experiments are required in order to conduct them. This work introduces a new on-line agricultural water use assessment tool that provides the water footprint and irrigation requirements at field scale based on an enhanced FAO56 approach combined with a global climate, crop and soil databases. This has been included in the Cool Farm Tool \u2013 an online tool which already provides metrics for greenhouse gas emissions and biodiversity impacts and therefore allows for a more holistic assessment of environmental sustainability in farming and agricultural supply chains. The model is tested against field scale and state level water footprint data providing good results. The tool provides a practical, reliable way to assess agricultural water use, and offers a means to engage growers and stakeholders in identifying efficient water management practices

Impaired cone function and cone degeneration resulting from CNGB3 deficiency: down-regulation of CNGA3 biosynthesis as a potential mechanism

The cone cyclic nucleotide-gated (CNG) channel is essential for central and color vision and visual acuity. This channel is composed of two structurally related subunits, CNGA3 and CNGB3; CNGA3 is the ion-conducting subunit, whereas CNGB3 is a modulatory subunit. Mutations in both subunits are associated with achromatopsia and progressive cone dystrophy, with mutations in CNGB3 alone accounting for 50% of all known cases of achromatopsia. However, the molecular mechanisms underlying cone diseases that result from CNGB3 deficiency are unknown. This study investigated the role of CNGB3 in cones, using CNGB3−/− mice. Cone dysfunction was apparent at the earliest time point examined (post-natal day 30) in CNGB3−/− mice. When compared with wild-type (WT) controls: photopic electroretingraphic (ERG) responses were decreased by ∼75%, whereas scotopic ERG responses were unchanged; visual acuity was decreased by ∼20%, whereas contrast sensitivity was unchanged; cone density was reduced by ∼40%; photoreceptor apoptosis was detected; and outer segment disorganization was observed in some cones. Notably, CNGA3 protein and mRNA levels were significantly decreased in CNGB3−/− mice; in contrast, mRNA levels of S-opsin, Gnat2 and Pde6c were unchanged, relative to WT mice. Hence, we show that loss of CNGB3 reduces biosynthesis of CNGA3 and impairs cone CNG channel function. We suggest that down-regulation of CNGA3 contributes to the pathogenic mechanism by which CNGB3 mutations lead to human cone disease