Mediterranean Tapeweed \u3cem\u3ePosidonia oceanica\u3c/em\u3e (L.) Delile, an Endangered Seagrass Species

THE MOST plentiful and important seagrass in the Mediterranean Sea is Posidonia oceanica L. (Delile) because of its ability to create a three-dimensional habitat with high biodiversity and to build the “matte”(a terrace of interlaced rhizomes and roots trapping sediment). This matte highly influences coast features in terms of wave attenuation and shoreline stabilization. In addition, P. oceanica meadows, which could extend along the coast, from the shoreline until 40m depth, are directly exposed to anthropic pressure coming from the coastal zones and it is particularly sensitive to the environmental conditions. In the last decades, human activities in coastal areas impacted sedimentary processes severely affecting P. oceanica meadows with consequent seagrass loss. This review aims to shed light on the importance of this plant, the extent of its dangerous status, and to urge the international community and governments to try to protect it in all possible ways, especially in Egypt

Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants

PurposeThe purpose of this study was to enhance understanding of lysosomal acid lipase deficiency (LALD) in infancy.MethodsInvestigators reviewed medical records of infants with LALD and summarized data for the overall population and for patients with and without early growth failure (GF). Kaplan-Meier survival analyses were conducted for the overall population and for treated and untreated patients.ResultsRecords for 35 patients, 26 with early GF, were analyzed. Prominent symptom manifestations included vomiting, diarrhea, and steatorrhea. Median age at death was 3.7 months; estimated probability of survival past age 12 months was 0.114 (95% confidence interval (CI): 0.009-0.220). Among patients with early GF, median age at death was 3.5 months; estimated probability of survival past age 12 months was 0.038 (95% CI: 0.000-0.112). Treated patients (hematopoietic stem cell transplant (HSCT), n = 9; HSCT and liver transplant, n = 1) in the overall population and the early GF subset survived longer than untreated patients, but survival was still poor (median age at death, 8.6 months).ConclusionsThese data confirm and expand earlier insights on the progression and course of LALD presenting in infancy. Despite variations in the nature, onset, and severity of clinical manifestations, and treatment attempts, clinical outcome was poor.Genet Med 18 5, 452-458

Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.

Although manganese is an essential trace metal, little is known about its transport and homeostatic regulation. Here we have identified a cohort of patients with a novel autosomal recessive manganese transporter defect caused by mutations in SLC39A14. Excessive accumulation of manganese in these patients results in rapidly progressive childhood-onset parkinsonism-dystonia with distinctive brain magnetic resonance imaging appearances and neurodegenerative features on post-mortem examination. We show that mutations in SLC39A14 impair manganese transport in vitro and lead to manganese dyshomeostasis and altered locomotor activity in zebrafish with CRISPR-induced slc39a14 null mutations. Chelation with disodium calcium edetate lowers blood manganese levels in patients and can lead to striking clinical improvement. Our results demonstrate that SLC39A14 functions as a pivotal manganese transporter in vertebrates.Action Medical ResearchThis is the final version of the article. It first appeared from Nature Publishing Group via http://dx.doi.org/10.1038/ncomms1160

Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

Pathogenic variants in A Disintegrin And Metalloproteinase (ADAM) 22, the postsynaptic cell membrane receptor for the glycoprotein leucine-rich repeat glioma-inactivated protein 1 (LGI1), have been recently associated with recessive developmental and epileptic encephalopathy. However, so far, only two affected individuals have been described and many features of this disorder are unknown. We refine the phenotype and report 19 additional individuals harboring compound heterozygous or homozygous inactivating ADAM22 variants, of whom 18 had clinical data available. Additionally, we provide follow-up data from two previously reported cases. All affected individuals exhibited infantile-onset, treatment-resistant epilepsy. Additional clinical features included moderate to profound global developmental delay/intellectual disability (20/20), hypotonia (12/20), delayed motor development (19/20). Brain MRI findings included cerebral atrophy (13/20), supported by post-mortem histological examination in patient-derived brain tissue, cerebellar vermis atrophy (5/20), and callosal hypoplasia (4/20). Functional studies in transfected cell lines confirmed the deleteriousness of all identified variants and indicated at least three distinct pathological mechanisms: defective cell membrane expression (1), impaired LGI1-binding (2), and/or impaired interaction with the postsynaptic density protein PSD-95 (3). We reveal novel clinical and molecular hallmarks of ADAM22 deficiency and provide knowledge that might inform clinical management and early diagnostics

Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

Pathogenic variants in A Disintegrin And Metalloproteinase (ADAM) 22, the postsynaptic cell membrane receptor for the glycoprotein leucine-rich repeat glioma-inactivated protein 1 (LGI1), have been recently associated with recessive developmental and epileptic encephalopathy. However, so far, only two affected individuals have been described and many features of this disorder are unknown. We refine the phenotype and report 19 additional individuals harbouring compound heterozygous or homozygous inactivating ADAM22 variants, of whom 18 had clinical data available. Additionally, we provide follow-up data from two previously reported cases. All affected individuals exhibited infantile-onset, treatment-resistant epilepsy. Additional clinical features included moderate to profound global developmental delay/intellectual disability (20/20), hypotonia (12/20) and delayed motor development (19/20). Brain MRI findings included cerebral atrophy (13/20), supported by post-mortem histological examination in patient-derived brain tissue, cerebellar vermis atrophy (5/20), and callosal hypoplasia (4/20). Functional studies in transfected cell lines confirmed the deleteriousness of all identified variants and indicated at least three distinct pathological mechanisms: (i) defective cell membrane expression; (ii) impaired LGI1-binding; and/or (iii) impaired interaction with the postsynaptic density protein PSD-95. We reveal novel clinical and molecular hallmarks of ADAM22 deficiency and provide knowledge that might inform clinical management and early diagnostics. Van der Knoop et al. describe the clinical features of 21 individuals with biallelic pathogenic variants in ADAM22 and confirm the deleteriousness of the variants with functional studies. Clinical hallmarks of this rare disorder comprise progressive encephalopathy and infantile-onset refractory epilepsy.Peer reviewe

Impact of opioid-free analgesia on pain severity and patient satisfaction after discharge from surgery: multispecialty, prospective cohort study in 25 countries

Background: Balancing opioid stewardship and the need for adequate analgesia following discharge after surgery is challenging. This study aimed to compare the outcomes for patients discharged with opioid versus opioid-free analgesia after common surgical procedures.Methods: This international, multicentre, prospective cohort study collected data from patients undergoing common acute and elective general surgical, urological, gynaecological, and orthopaedic procedures. The primary outcomes were patient-reported time in severe pain measured on a numerical analogue scale from 0 to 100% and patient-reported satisfaction with pain relief during the first week following discharge. Data were collected by in-hospital chart review and patient telephone interview 1 week after discharge.Results: The study recruited 4273 patients from 144 centres in 25 countries; 1311 patients (30.7%) were prescribed opioid analgesia at discharge. Patients reported being in severe pain for 10 (i.q.r. 1-30)% of the first week after discharge and rated satisfaction with analgesia as 90 (i.q.r. 80-100) of 100. After adjustment for confounders, opioid analgesia on discharge was independently associated with increased pain severity (risk ratio 1.52, 95% c.i. 1.31 to 1.76; P < 0.001) and re-presentation to healthcare providers owing to side-effects of medication (OR 2.38, 95% c.i. 1.36 to 4.17; P = 0.004), but not with satisfaction with analgesia (beta coefficient 0.92, 95% c.i. -1.52 to 3.36; P = 0.468) compared with opioid-free analgesia. Although opioid prescribing varied greatly between high-income and low- and middle-income countries, patient-reported outcomes did not.Conclusion: Opioid analgesia prescription on surgical discharge is associated with a higher risk of re-presentation owing to side-effects of medication and increased patient-reported pain, but not with changes in patient-reported satisfaction. Opioid-free discharge analgesia should be adopted routinely

Circulating

Rationale: Chronic obstructive pulmonary disease (COPD) is characterized by progressive airflow limitation that is associated with an enhanced inflammatory response in the airways and the lung. The remodeling process in COPD is greatly under the influence of growth factors. Lung fibroblasts in COPD demonstrated alterations in its functional capacity that is mediated by TGF-β1, therefore, could play a role in the pathogenesis of COPD. Fibrocytes are bone marrow derived cells that migrate to the injured sites and differentiate into fibroblast-like cells. Objectives: To test the hypothesis that assay of circulating fibrocytes may provide a biomarker for exacerbation and severity of COPD. Methods: Fibrocytes were defined by flow cytometry and quantified in fifty male patients with stable COPD and during exacerbation. We investigated the clinical and prognostic value of fibrocytes by comparison with standard clinical parameters. Thirteen healthy subjects were selected as control. Results: Fibrocytes were significantly elevated in stable COPD patients (n = 25), with a further increase during exacerbation (n = 25; P < 0.001 vs. control subjects n = 13). Correlation analysis between fibrocyte counts and mMRC score, 6-MWT, BODE index, arterial oxygen saturation, pre- and post-bronchodilator FEV1/FVC, FEV1, FVC and FEF25–75 showed a direct relationship in COPD patients. There was a direct correlation between fibrocytes with the mMRC score and the serum levels of TGF-β1 only in COPD patients in exacerbations (n = 25). Conclusions: Fibrocytes are an indicator of COPD exacerbation and might be useful as a clinical (bio) marker for disease progression

Cardiovascular Abnormalities in Egyptian Children with Mucopolysaccharidoses

The Mucopolysaccharidoses (MPS) are rare inherited metabolic disorders. They are characterized by the progressive systemic deposition of Glycosaminoglycans (GAGs). GAGs accumulate in the myocardium and the cardiac valves. Enzyme Replacement Therapy (ERT) is available for MPS I, II, and VI. However, ERT does not appear to improve cardiac valve disease in patients with valve disease present at the start of ERT.status: publishe

Water Footprint Calculation, Effluent Characteristics and Pollution Impact Assessment of Leather Industry in Bangladesh

Leather processing industries consume high volumes of water and chemicals and release effluents into the environment that pollute the surface water and may cause harm to human health. Leather processing involves different wet processing stages such as soaking, liming, chrome tanning, rechroming, neutralization, fatliqouring and dyeing. The pollution generated from the leather processing stages varies in volume, nature and concentrations. Qualitative and quantitative assessments of effluents generated from different stages of leather processing can be useful to understand the stagewise and overall water pollution of leather wet processing and to design and plan pollution abatement initiatives. Water footprints (WF) can help in understanding the total water consumption and water pollution caused by the leather sector. The objectives of this research are to assess the characteristics of effluents generated from different stages of leather processing, calculate the water footprint (WF) and analyze the pollution load of the Bangladesh leather sector. To perform experimental analyses, effluent samples were collected from the following leather processing stages: soaking, liming, deliming and bating, pickling and tanning, wet back, rechroming, neutralization, retanning, dyeing and fatliqouring from four leather processing factories. The key pollution indicating parameters, such as pH, chemical oxygen demand (COD), biological oxygen demand (BOD), total dissolved solid (TDS) and total suspended solid (TSS) of the effluent samples were analyzed. The experimental study showed that almost 52% effluents generate from beam house and tan yard operations, and about 48% effluents generate from post tanning operations. Due to the presence of high amounts of salt, insecticides and bactericides, the effluent generated from the soaking stage contains high BOD and TDS. On the other hand, effluent generated from liming contains the highest amounts of BOD, COD, TDS, and TSS. The reduction or segregation of soaking and liming effluents will be effective in improving the environmental performance of the wet processing of leather. To assess the total water footprint of the leather sector, the water footprint of feed crops and raw hides were calculated, along with the water footprint of the leather processing stages. The water footprints of bovine and ovine crust leather were found to be 34,000 m3/ton and 17,300 m3/ton, respectively. The blue water footprint is higher in soaking, liming and finishing. The green water footprint of leather is mainly contributed by feed crops of farming animals. The grey water footprint was found higher in the soaking, liming, fatliqouring and dyeing stages. About 97% of the water footprints of tanneries are contributed by the wet processing stages. The grey water footprint is the most significant part of the total water footprint of the leather sector, which indicates the impact of high water pollution by the leather processing stages. This study can help to understand the overall scenario of water consumption and water pollution caused by the leather sector in Bangladesh. This study can also be useful in designing sustainable leather products by reducing the total water footprint per unit of leather goods. The systematic approach of this study could be useful for other countries in leather processing

Pancreatic Response to Gold Nanoparticles Includes Decrease of Oxidative Stress and Inflammation In Autistic Diabetic Model

Background: Gold nanoparticles (AuNPs) have a wide range of applications in various fields. This study provides an understanding of the modulatory effects of AuNPs on an antioxidant system in male Wistar diabetic rats with autism spectrum disorder (ASD). Normal littermates fed by control mothers were injected with citrate buffer alone and served as normal, untreated controls controlin this study. Diabetes mellitus (DM) was induced by administering a single intraperitoneal injection of streptozotocin (STZ) (100 mg/kg) to the pups of (ND) diabetic group, which had been fasted overnight. Autistic pups from mothers that had received a single intraperitoneal injection of 600 mg/kg sodium valproate on day 12.5 after conception were randomly divided into 2 groups (n 2 7/group) as follow; administering single intraperitoneal injection of streptozotocin (STZ) ( (100 mg/kg) to the overnight fasted autistic pups of (AD) autistic diabetic group. The treatment was started on the 5th day after STZ injection with the same dose as in group II and it was considered as 1st day of treatment with gold nanoparticles for 7 days to each rat of (group IV) treated autistic diabetic group(TAD) at a dosage of 2.5 mg/kg. b. wt. Results: At this dose of administration AuNPs, the activities of hepatic superoxide dismutase (SOD), glutathione peroxidase (GPx), and catalase were greater in group TAD compared with the control group (P 0.05) in the liver of autistic diabetic AuNPs -supplemented rats, whereas reduced glutathione was markedly higher than in control rats, especially after administration of AuNPs. Moreover, the kidney functions in addition to the fat profile scoring supported the protective potential of that dose of AuNPs. The beta cells revealed euchromatic nuclei with no evidence of separation of nuclear membrane. Conclusions: Our results showed that AuNPs improved many of the oxidative stress parameters (SOD, GPx and, CAT), plasma antioxidant capacity (ORAC) and lipid profile relative to the other parameters. In addition to the apparent reversibility of the pancreatic B cell in group IV which may reflect the regenerative capacity of AuNPs