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1.
J Environ Manage ; 365: 121515, 2024 Jun 28.
Article in English | MEDLINE | ID: mdl-38943753

ABSTRACT

The aim of the present study was to assess the effect of hydrothermal pretreatment on the solubilization and anaerobic digestion (AD) of Scenedesmus sp. biomass. At first, the microalgae was cultivated in 5% fresh leachate (FL) to recover nutrients such as nitrogen and phosphorus. Scenedesmus sp. grown in 5% FL obtained 100%, 77% and 97% removal efficiency of ammonium nitrogen (NH4+ - N), total Kjeldahl nitrogen (TKN) and phosphate phosphorous (PO43- -P), respectively. In the following step, the hydrothermal pretreatment of Scenedesmus sp. biomass was carried out at 120, 150 and 170 °C and retention time of 0, 30 and 60 min to evaluate its solubilization and biogas production through AD in batch test. Soluble chemical oxygen demand (sCOD) increased by 260% compared to untreated microalgae at 170 °C for 60 min. In comparison to untreated microalgae, the highest increase in biogas (70%) and methane yield (100%) was observed for 150 °C and 60 min pretreated microalgae as a consequence of hydrothermal pretreatment. Hydrothermal pretreatment has shown effectiveness in enhancing biomass solubilization and increasing biogas yield. Nevertheless, further research at the pilot scale is necessary to thoroughly evaluate the potential and feasibility of hydrothermal pretreatment for full-scale implementation.

2.
Int Immunopharmacol ; 126: 111213, 2024 Jan 05.
Article in English | MEDLINE | ID: mdl-37995572

ABSTRACT

Mastitis, an inflammatory disease of the mammary gland, imposes a significant financial burden on the dairy sector. However, the specific molecular mechanisms underlying their interactions with goat mammary epithelial cells (GMECs) remain poorly understood. This study aimed to investigate the transcriptomic response of GMECs during infection with E. coli and S. aureus, providing insights into the host-pathogen interactions. Differential expression of gene (DEGs) analysis was done to find genes and pathways dysregulated in the wake of infection. E. coli infection triggered a robust upregulation of immune response genes, including pro-inflammatory chemokines and cytokines as well as genes involved in tissue repair and remodeling. Conversely, S. aureus infection showed a more complex pattern, involving the activation of immune-related gene as well as those involved in autophagy, apoptosis and tissue remodeling. Furthermore, several key pathways, such as Toll-like receptor signaling and cytokine-cytokine receptor interaction, were differentially modulated in response to each pathogen. Understanding the specific responses of GMECs to these pathogens will provide a foundation for understanding the complex dynamics of infection and host response, offering potential avenues for the development of novel strategies to prevent and treat bacterial infections in both animals and humans.


Subject(s)
Escherichia coli Infections , Mastitis, Bovine , Staphylococcal Infections , Humans , Female , Animals , Cattle , Escherichia coli/physiology , Staphylococcus aureus/physiology , Gene Expression Regulation , Goats/genetics , Goats/metabolism , Mammary Glands, Animal/metabolism , Gene Expression Profiling , Cytokines/metabolism , Epithelial Cells/metabolism
3.
J Environ Manage ; 351: 119847, 2024 Feb.
Article in English | MEDLINE | ID: mdl-38142597

ABSTRACT

Solid waste leachate (SWL) requires dilution with water to offset the negative effects of high nutrient concentration and organic compounds for its microalgae-based treatment. Among attached cultivation systems, twin layer is a technology in which limited information is available on treatment of high strength wastewater using microalgae. Moreover, widespread application of twin layer technology is limited due to cost of substrate and source layer used. In the present study, potential of Scenedesmus sp. for the treatment of SWL was assessed on horizontal twin layer system (HTLS). Novel and cost-effective substrate layers were tested as attachment material. Wetland treated municipal wastewater (WMW) was used to prepare SWL dilutions viz, 5%, 10%, 15%, 20% and 25% SWL. Recycled printing paper showed maximum biomass productivity of 5.19 g m-2 d-1. Among all the SWL dilutions, Scenedesmus sp. achieved maximum growth of 103.05 g m-2 in 5% SWL which was 16% higher than WMW alone. The maximum removal rate of NH4+ -N, TKN, and PO43- P was obtained in 20% SWL which was 1371, 1588 and 153 mg m-2 d-1 respectively. Varying concentrations of nutrients in different SWL dilutions significantly affected lipid biosynthesis, with enhanced productivity of 2.28 g m-2 d-1 achieved in 5% SWL compared to 0.97 g m-2 d-1 in 20% SWL. Hence, it can be concluded that 5% SWL dilution was good for biomass and lipid production, while the highest nutrient removal rates were obtained at 20% SWL mainly attributed to biotic and abiotic processes. Based on these results HTLS can be a promising technology for pilot scale to explore industrialized application of wastewater treatment and algal production.


Subject(s)
Microalgae , Scenedesmus , Wastewater , Solid Waste , Nutrients , Biomass , Scenedesmus/chemistry , Lipids , Nitrogen/analysis
4.
Inflamm Regen ; 43(1): 17, 2023 Feb 28.
Article in English | MEDLINE | ID: mdl-36849892

ABSTRACT

Extracellular vesicles (EVs) are nano-sized lipid-bilayer encapsulated vesicles produced by the cells. These EVs are released into the surrounding space by almost all cell types. The EVs help in intercellular communication via their payloads which contain various proteins, lipids, and nucleic acids generated from the donor cells and allow for synergistic responses in surrounding cells. In recent years, EVs have been increasingly important in treating infectious diseases, including respiratory tract infections, urinary tract infections, wound infections, sepsis, and intestinal infections. Studies have confirmed the therapeutic value of mesenchymal stem cell-derived EVs (MSC-EVs) for treating infectious diseases to eliminate the pathogen, modulate the resistance, and restore tissue damage in infectious diseases. This can be achieved by producing antimicrobial substances, inhibiting pathogen multiplication, and activating macrophage phagocytic activity. Pathogen compounds can be diffused by inserting them into EVs produced and secreted by host cells or by secreting them as microbial cells producing EVs carrying signalling molecules and DNA shielding infected pathogens from immune attack. EVs play a key role in infectious pathogenesis and hold great promise for developing innovative treatments. In this review, we discuss the role of MSC-EVs in treating various infectious diseases.

6.
Cell Commun Signal ; 21(1): 3, 2023 01 05.
Article in English | MEDLINE | ID: mdl-36604713

ABSTRACT

SCARB1 belongs to class B of Scavenger receptors (SRs) that are known to be involved in binding and endocytosis of various pathogens. SRs have emerging role in regulating innate immunity and host-pathogen interactions by acting in co-ordination with Toll-like receptors.Query Little is known about the function of SCARB1 in milk-derived mammary epithelial cells (MECs). This study reports the role of SCARB1 in infection and its potential association in TLR4 signaling on bacterial challenge in Goat mammary epithelial cells (GMECs). The novelty in the establishment of MEC culture lies in the method that aims to enhance the viability of the cells with intact characteristics upto a higher passage number. We represent MEC culture to be used as a potential infection model for deeper understanding of animal physiology especially around the mammary gland. On E.coli challenge the expression of SCARB1 was significant in induced GMECs at 6 h. Endoribonuclease-esiRNA based silencing of SCARB1 affects the expression of TLR4 and its pathways i.e. MyD88 and TRIF pathways on infection. Knockdown also affected the endocytosis of E.coli in GMECs demonstrating that E.coli uses SCARB1 function to gain entry in cells. Furthermore, we predict 3 unique protein structures of uncharacterized SCARB1 (Capra hircus) protein. Overall, we highlight SCARB1 as a main participant in host defence and its function in antibacterial advances to check mammary gland infections. Video Abstract.


Subject(s)
Epithelial Cells , Escherichia coli Infections , Mammary Glands, Animal , Receptors, Scavenger , Toll-Like Receptor 4 , Animals , Endocytosis , Epithelial Cells/metabolism , Epithelial Cells/microbiology , Escherichia coli , Receptors, Scavenger/metabolism , Signal Transduction , Toll-Like Receptor 4/metabolism , Goats , Mammary Glands, Animal/microbiology , Escherichia coli Infections/veterinary
7.
Virology ; 567: 65-76, 2022 02.
Article in English | MEDLINE | ID: mdl-35032865

ABSTRACT

Rift Valley fever virus (RVFV) is an arbovirus that was first reported in the Rift Valley of Kenya which causes significant disease in humans and livestock. RVFV is a tri-segmented, negative-sense RNA virus consisting of a L, M, and S segments with the M segment encoding the glycoproteins Gn and Gc. Host factors that interact with Gn are largely unknown. To this end, two viruses containing an epitope tag (V5) on the Gn protein in position 105 or 229 (V5Gn105 and V5Gn229) were generated using the RVFV MP-12 vaccine strain as a backbone. The V5-tag insertion minimally impacted Gn functionality as measured by replication kinetics, Gn localization, and antibody neutralization assays. A proteomics-based approach was used to identify novel Gn-binding host proteins, including the E3 ubiquitin-protein ligase, UBR4. Depletion of UBR4 resulted in a significant decrease in RVFV titers and a reduction in viral RNA production.


Subject(s)
Calmodulin-Binding Proteins/genetics , Host-Pathogen Interactions/genetics , Rift Valley fever virus/genetics , Ubiquitin-Protein Ligases/genetics , Viral Envelope Proteins/genetics , Animals , Antibodies, Neutralizing/metabolism , Antibodies, Viral/metabolism , Calmodulin-Binding Proteins/metabolism , Cell Line , Cell Line, Tumor , Culex , Epitopes/chemistry , Epitopes/metabolism , Gene Expression Profiling , Gene Expression Regulation , HEK293 Cells , Hepatocytes/virology , Humans , Protein Binding , Rift Valley fever virus/metabolism , Signal Transduction , Ubiquitin-Protein Ligases/metabolism , Viral Envelope Proteins/metabolism , Virus Replication
8.
Front Med (Lausanne) ; 9: 1028377, 2022.
Article in English | MEDLINE | ID: mdl-36760882

ABSTRACT

Ancient Egyptian mummies represent an opportunity to learn more about the health, beliefs, and skills of humans in antiquity. A fully wrapped mummy, from a Late Ptolemaic cemetery (c.332-30 BC) in Edfu, Egypt, has been stored, unexamined, at the Cairo Egyptian Museum since 1916. We hypothesized that scanning and 3D-printing the mummy using Computed Tomography (CT) could help in documenting and promoting its public display. CT enabled non-invasive digital unwrapping and revealed a well-preserved mummy. Biological sex could be determined from the presence of male genitalia; epiphyseal fusion and tooth eruption indicated an approximate age at death of 14-15 years. The deceased had healthy teeth and bones without evidence of poor nutrition or disease. CT detected a high-quality mummification process that included brain removal through an iatrogenic defect of the cribriform plate and viscera removal via a left lower-abdominal incision. The heart remained in the chest as a spiritual symbol. Resin was poured into the emptied cranial and torso cavities, and linen packs were placed inside the torso. The Mummy's external ornamentation includes a gilded head mask, a pectoral cartonnage, and a pair of sandals. CT identified 49 amulets inside the mummy and between the wrappings, arranged in three columns. The amulets have 21 different shapes, including Udjat, scarabs, Ajet, Djed-pillar, Tyt, Placenta, Double-Plume, and Right-angle. CT densities indicated that 30 (61%) amulets were metal (likely gold), and the other amulets were made of faience, stones, or fired clay. The embalmers placed amulets to protect and provide vitality for the body for the afterlife. A gold tongue amulet was placed inside the mouth to ensure the deceased could speak in the afterlife. A Two-finger amulet was placed beside the penis to protect the embalming incision. 3D-printing enabled the tactile and visual study of a heart scarab found inside the thoracic cavity. Findings from this study suggest that ancient Egyptians valued their children and provided them with ritual treatment. State-of-the-art techniques such as CT and 3D printing provided valuable insights and supported the museum display of the mummy, nicknamed "The Golden Boy."

9.
Mol Syndromol ; 13(5): 389-396, 2022 Dec.
Article in English | MEDLINE | ID: mdl-36588752

ABSTRACT

Introduction: Pathogenic variants in the PIEZO family member 2 (PIEZO2) gene are known to cause Gordon syndrome (GS), Marden-Walker syndrome (MWS), and distal arthrogryposis type 5 (DA5). Out of these, MWS has a recognizable phenotype that can be discerned easily, but the distinction between GS and DA5 is less evident. Few children with pathogenic PIEZO2 variants have been reported to show posterior fossa anomalies. Methods and Results: By candidate gene targeting guided by proper clinical evaluation and neuroimaging findings, a patient with classic MWS harboring a de novo novel variant (c.8237G>A, p.W2746*) in the C-terminal region of PIEZO2 was identified. In addition, another girl with the typical clinical features of GS is also described carrying the most prevalent reported variant (c.8057G>A, p.R2686H) in PIEZO2. The brain MRI of the 2 patients showed Dandy-Walker malformation (DWM). Diffusion tensor imaging visualized anteroposterior and downward aligned thin middle cerebellar peduncle. The association of DWM with arthrogryposis in the presence of PIEZO2 variants remains quite interesting and provides more evidence that PIEZO2 plays a role in the development of hindbrain although the underlying mechanism remains unclear. Moreover, the 2 girls had distinct foot patterning in the form of shortening of the first and fifth toes. Conclusion: Phenotype analysis and a comprehensive review of the literature strongly support the previously published data and corroborate the evidence that heterozygous PIEZO2-related disorders represent a continuum with overlapping phenotypic features.

10.
Virusdisease ; 32(4): 784-788, 2021 Dec.
Article in English | MEDLINE | ID: mdl-34901325

ABSTRACT

For breeding resistant cultivars, understanding the nature and distribution of PVY strains is indispensable. In present study, during the course of survey two hundred potato samples showing symptoms of vein clearing, mosaic, stunting, mottling, curling and vein banding were collected from 4 major potato growing districts of Kashmir valley. The disease incidence ranged from 16 to 27.33% with maximum in district Srinagar (27.33%). All the samples were serologically tested for PVY infection using DAS-ELISA and 74 tested positive for PVY infection. Out of 74 positive samples forty samples were re-confirmed by RT-PCR by amplifying 900 bp using coat protein (CP) gene specific primers. The PCR-positive samples were further characterized into different strains using strain specific primers. The strains NTN, N and O were reported and among them NTN strain was found to be most prevalent throughout the valley. The phylogenetic analysis of selected isolates carried out with known PVY strains also confirmed that the isolates belong to the N, NTN and O strains of PVY. The study will help in developing point of care strain specific diagnostics and also in devising the strategy for developing PVY resistant varieties, because when we have the complete information about the virus and its strains it will help us in screening the germplasm against each strain and, therefore, eventually development of a multi-strain resistant variety. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s13337-021-00722-2.

11.
Pathogens ; 10(6)2021 May 31.
Article in English | MEDLINE | ID: mdl-34072726

ABSTRACT

Powassan virus (POWV) is a tick-borne flavivirus circulating in North America and the Russian Far East that can cause severe neuroinvasive diseases, including encephalitis, meningitis, and meningoencephalitis. The reported neuroinvasive case fatality is about 10%, and approximately 50% of the survivors from the neuroinfection exhibit long-lasting or permanent neurological sequelae. Currently, treatment of POWV infection is supportive, and no FDA-approved vaccines or specific therapeutics are available. A novel Powassan vaccine candidate was created using virus-like particle technology (POW-VLP) and assembled with the viral structural proteins pre-Membrane (prM) and Envelope (E). Western blot immunoassay demonstrated high antigenicity of POW-VLP structural proteins. Transmission electron microscopy indicated that the POW-VLP exhibited icosahedral morphology typical of flaviviruses. A dose-escalation study in a murine model was performed to test immunogenicity and safety. Serum antibody was tested by ELISA, demonstrating that POW-VLP afforded 100% seroconversion to the E protein. Reporter viral-particle neutralization assay demonstrated high levels of neutralizing antibodies in the serum of immunized mice. Hybridomas expressing monoclonal antibodies were produced following POW-VLP immunization. The POW-VLP vaccine candidate created in this study provides a strategy for inducing protective antibodies against Powassan neuroinvasive infection.

12.
Front Med (Lausanne) ; 8: 637527, 2021.
Article in English | MEDLINE | ID: mdl-33681262

ABSTRACT

Seqenenre-Taa-II, The Brave, (c.1558-1553 BC) ruled Southern Egypt during the occupation of Egypt by the Hyksos. The mummy was physically examined and X-rayed in the 1960s, which showed severe head wounds that have prompted various theories about the circumstances of his death. We postulated that Computed Tomography (CT) study of Seqenenre-Taa-II's mummy would give insights into the circumstances of his death. We examined Seqenenre's mummy using CT and compared the findings with the archaeological literature as well as with five Asian weapons found in Tell-el-Dabaa. CT findings indicate that Seqenenre died in his forties. The mummies deformed hands suggest that the King was likely imprisoned with his hands tied. CT images provided detailed analysis of Seqenenre's previously reported injuries to the forehead, right supra-orbital, nose-right orbit, left chick, and skull base. This study revealed additional craniofacial fractures in the right lateral side of the skull that had been concealed by the embalmers beneath layers of material. Analysis of the morphology of the injuries enabled a better understanding of the mechanism of trauma, possible number of the attackers, and their relative position to the King. The size and shape of the fractures correlated well with the studied Hyksos weapons. The lethal attack was aimed at the King's face, likely in an attempt to disgrace him. Mummification of Seqenenre's body was limited to evisceration without brain removal. The desiccated brain is shifted to the left side of the skull. This may indicate that the King's dead body stayed on its left side for some time-long enough for decomposition start before the mummification began. This suggests that the King likely died at a location distant from the funeral place, possibly on a battlefield. The embalmers attempted to conceal the King's injuries; the methods used suggest that the mummification took place in a royal mummification workshop rather than in a poorly equipped location. CT findings of Seqenenre's mummy helped us to better understand the circumstances of his violent death. His death motivated his successors to continue the fight to unify Egypt and start The New Kingdom.

13.
Front Med (Lausanne) ; 8: 778498, 2021.
Article in English | MEDLINE | ID: mdl-35028305

ABSTRACT

The mummy of King Amenhotep I (18th Dynasty c.1525-1504 BC) was reburied by the 21st Dynasty priests at Deir el-Bahari Royal Cache. In 1881 the mummy was found fully wrapped and was one of few royal mummies that have not been unwrapped in modern times. We hypothesized that non-invasive digital unwrapping using CT would provide insights on the physical appearance, health, cause of death, and mummification style of the mummy of King Amenhotep I. We examined the mummy with CT and generated two- and three-dimensional images for the head mask, bandages, and the virtually unwrapped mummy. CT enabled the visualization of the face of Amenhotep I who died around the age of 35 years. The teeth had minimal attrition. There was no CT evidence of pathological changes or cause of death. The body has been eviscerated via a vertical left flank incision. The heart is seen in the left hemithorax with an overlying amulet. The brain has not been removed. The mummy has 30 amulets/jewelry pieces including a beaded metallic (likely gold) girdle. The mummy suffered from multiple postmortem injuries likely inflicted by tomb robbers that have been likely treated by 21st Dynasty embalmers. These included fixing the detached head and neck to the body with a resin-treated linen band; covering a defect in the anterior abdominal wall with a band and placing two amulets beneath; placement of the detached left upper limb beside the body and wrapping it to the body. The transversely oriented right forearm is individually wrapped, likely representing the original 18th Dynasty mummification and considered the first known New Kingdom mummy with crossed arms at the chest. The head mask is made of cartonnage and has inlaid stone eyes. The digital unwrapping of the mummy of Amenhotep I using CT sets a unique opportunity to reveal the physical features of the King non-invasively, understand the mummification style early in the 18th Dynasty, and the reburial intervention style by 21st Dynasty embalmers. This study may make us gain confidence in the goodwill of the reburial project of the Royal mummies by the 21st dynasty priests.

14.
Can Urol Assoc J ; 14(12): E631-E635, 2020 Dec.
Article in English | MEDLINE | ID: mdl-32569565

ABSTRACT

INTRODUCTION: The last 10-15 years has seen a decline in formal undergraduate urological education throughout Canada. Given the large volume of urological presentations in family practice, trainees need to acquire the requisite urological knowledge and skills to serve their patients. The objective of this study is to determine the perceived level of urological knowledge and skills among Canadian family medicine residents. METHODS: A 15-item, anonymous, online survey was distributed via email to all Canadian family medicine program directors from September to December 2018 and distributed to their residents. The survey obtained data on demographics, training, undergraduate urology experience, self-reported proficiency in interpreting urological investigations, performing common urological procedures, and managing common urological conditions. Descriptive statistics were used to summarize data. RESULTS: The questionnaire was completed by 142 family medicine residents with representation from Western Canada (27.5%), Ontario (32.4%), and Quebec (40.1%); 39.4% of respondents had completed a urology rotation during medical school and only 29.1% felt that their medical training prepared them for the urological aspects of family medicine. Although the majority of respondents felt proficient in performing a digital rectal examination (58.5%) or managing urinary tract infections (97.9%), only a minority felt competent in performing male genitourinary examination (40.1%), uncomplicated male (34.5%), female (45.8%) or difficult (9.2%) urethral catheterization. Likewise, the minority of respondents felt comfortable managing erectile dysfunction (41.5%), scrotal swelling (34.7%), and scrotal pain (25.7%). CONCLUSIONS: There are significant deficiencies in urological knowledge and skills among family medicine residents in Canada, possibly because of insufficient educational experiences during medical training.

15.
Neuron ; 107(1): 82-94.e6, 2020 07 08.
Article in English | MEDLINE | ID: mdl-32330411

ABSTRACT

Patients lacking PYCR2, a mitochondrial enzyme that synthesizes proline, display postnatal degenerative microcephaly with hypomyelination. Here we report the crystal structure of the PYCR2 apo-enzyme and show that a novel germline p.Gly249Val mutation lies at the dimer interface and lowers its enzymatic activity. We find that knocking out Pycr2 in mice phenocopies the human disorder and depletes PYCR1 levels in neural lineages. In situ quantification of neurotransmitters in the brains of PYCR2 mutant mice and patients revealed a signature of encephalopathy driven by excessive cerebral glycine. Mechanistically, we demonstrate that loss of PYCR2 upregulates SHMT2, which is responsible for glycine synthesis. This hyperglycemia could be partially reversed by SHMT2 knockdown, which rescued the axonal beading and neurite lengths of cultured Pycr2 knockout neurons. Our findings identify the glycine metabolic pathway as a possible intervention point to alleviate the neurological symptoms of PYCR2-mutant patients.


Subject(s)
Cerebral Cortex/metabolism , Glycine Hydroxymethyltransferase/metabolism , Glycine/metabolism , Hereditary Central Nervous System Demyelinating Diseases/pathology , Pyrroline Carboxylate Reductases/genetics , Adolescent , Animals , Cerebral Cortex/pathology , Child, Preschool , Female , Hereditary Central Nervous System Demyelinating Diseases/genetics , Hereditary Central Nervous System Demyelinating Diseases/metabolism , Humans , Infant , Male , Mice , Mice, Knockout , Nerve Degeneration/genetics , Nerve Degeneration/metabolism , Nerve Degeneration/pathology , Pedigree , Pyrroline Carboxylate Reductases/deficiency
16.
BJR Case Rep ; 5(4): 20190031, 2019 Dec.
Article in English | MEDLINE | ID: mdl-31938563

ABSTRACT

Cavernous haemangioma of the cavernous sinus is a rare vascular malformation. It's often confused with other parasellar masses. Here, we report a case of a female with a left parasellar mass which was misdiagnosed as schwannoma vs meningioma using CT and MRI. The patient was operated via the pterional approach but resection had been halted due to severe haemorrhage and only tumour biopsy could be obtained. The diagnosis of cavernous sinus haemangioma was established by histopathology and confirmed by subsequent digital subtraction angiography. The patient refused second surgery or adjuvant radiosurgery and the treatment strategy was observation and follow-up. Retrospectively, we included the key radiographic features of cavernous sinus haemangioma which would facilitate pre-operative diagnosis and avoid unforeseen operative complications. Diagnostic radiographic features include a well-defined mass in the cavernous sinus which shows isodense to slightly hyperdense attenuation on non-contrast CT scan with possible adjacent pressure bone remodelling. On MRI, it shows remarkable high T 2 signal; intense homogenous enhancement or characteristic progressive contrast enhancement on sequential enhanced images. On digital subtraction angiography, it may demonstrate a vascular blush.

17.
Int J Paleopathol ; 24: 144-153, 2019 03.
Article in English | MEDLINE | ID: mdl-30388585

ABSTRACT

OBJECTIVE: The goal of this study is to demonstrate the need for interdisciplinary consensus and inclusion of mummy radiology specialists in analyses of mummified remains. MATERIALS: This study uses paleoimaging data for an ancient Egyptian mummy at the Museum of Human Anatomy "Filippo Civinini". METHODS: This study demonstrates the benefit of evaluation of mummified remains in a multi-disciplinary interpretive team. RESULTS: The authors propose a diagnosis of DISH, additional signs of undifferentiated spondyloarthropathy, and lumbarisation of S1. CONCLUSIONS: The process of diagnosis by consensus is essential to the analysis of mummified remains, which are complexly altered through natural and anthropogenic processes in the millennia subsequent to the individual's death. SIGNIFICANCE: Mummy paleoimaging and paleopathology lacks a unifying set of standards. We present an example of the value to be found in the multi-disciplinary diagnosis by consensus approach. LIMITATIONS: We discuss numerous challenges to accurate and meaningful interpretation that radiography of mummified remains pose. SUGGESTIONS FOR FURTHER RESEARCH: While the authors do not seek to impose any single set of standards, we do recommend a larger discussion on the topic of (culture-specific) standardisation in mummy paleoimaging and paleopathology. We further recommend the development of an international, multi-disciplinary panel of paleoimaging interpreters.


Subject(s)
Consensus , Mummies/diagnostic imaging , Paleopathology , Reference Standards , Egypt , Humans , Interdisciplinary Studies , Museums , Paleopathology/methods , Radiography/methods , Tomography, X-Ray Computed/methods
18.
Ann Neurol ; 84(5): 638-647, 2018 11.
Article in English | MEDLINE | ID: mdl-30178464

ABSTRACT

OBJECTIVE: To identify causes of the autosomal-recessive malformation, diencephalic-mesencephalic junction dysplasia (DMJD) syndrome. METHODS: Eight families with DMJD were studied by whole-exome or targeted sequencing, with detailed clinical and radiological characterization. Patient-derived induced pluripotent stem cells were derived into neural precursor and endothelial cells to study gene expression. RESULTS: All patients showed biallelic mutations in the nonclustered protocadherin-12 (PCDH12) gene. The characteristic clinical presentation included progressive microcephaly, craniofacial dysmorphism, psychomotor disability, epilepsy, and axial hypotonia with variable appendicular spasticity. Brain imaging showed brainstem malformations and with frequent thinned corpus callosum with punctate brain calcifications, reflecting expression of PCDH12 in neural and endothelial cells. These cells showed lack of PCDH12 expression and impaired neurite outgrowth. INTERPRETATION: DMJD patients have biallelic mutations in PCDH12 and lack of protein expression. These patients present with characteristic microcephaly and abnormalities of white matter tracts. Such pathogenic variants predict a poor outcome as a result of brainstem malformation and evidence of white matter tract defects, and should be added to the phenotypic spectrum associated with PCDH12-related conditions. Ann Neurol 2018;84:646-655.


Subject(s)
Brain Stem/abnormalities , Cadherins/genetics , Nervous System Malformations/genetics , Nervous System Malformations/pathology , Child , Child, Preschool , Female , Humans , Infant , Infant, Newborn , Male , Mutation , Protocadherins
19.
RSC Adv ; 8(22): 11935-11945, 2018 Mar 26.
Article in English | MEDLINE | ID: mdl-35539408

ABSTRACT

A novel visible light active TiO2/FeS2 semiconductor photocatalyst was synthesized by a simple wet chemical process. X-ray diffraction (XRD) was used to analyze the anatase TiO2 and pyrite structures in FeS2/TiO2 nanocrystals. Scanning electron microscopy (SEM) confirmed the spherical morphology of composite nanocrystals. X-ray photoelectron spectroscopy (XPS) identified the Fe2+, S1-, Ti4+, and O2- oxidation states of relevant species. Energy dispersive X-ray (EDX) analysis was performed for compositional analysis. The measured band gap of the TiO2/FeS2 nanocomposite system was 2.67 eV, which is smaller than un-doped TiO2 (3.10 eV) and larger than FeS2 (1.94 eV). The photocatalytic activity of TiO2/FeS2 was significantly higher than pure FeS2 for degrading methylene blue (MB) under solar light irradiation due to the increase in visible light absorption, reduction in band gap energy, and better election-hole pair separation. The photocatalytic degradation of MB was investigated under the influence of solution pH, dye concentrations, and varied catalyst dosage. The optimum degradation (100%) of MB was observed in 180 min and the photocatalysis of MB reduced as the dye concentrations in the solution increased from 15 to 75 mg L-1. These results prove that the TiO2/FeS2 nanocomposite has the stability, recycling, and adaptability for its practical application as a visible light photocatalyst for wastewater treatment. TiO2/FeS2 showed increased degradation of the organic pollutant; which is confirmed by the increased rate of chemical reaction following pseudo first-order reaction kinetics with the highest rate constant value of 0.0408 m-1 having highest R 2 value of 0.9981.

20.
Am J Med Genet A ; 173(10): 2697-2702, 2017 Oct.
Article in English | MEDLINE | ID: mdl-28815891

ABSTRACT

Walker-Warburg syndrome (WWS) is a severe form of congenital muscular dystrophy secondary to α-dystroglycanopathy with muscle, brain, and eye abnormalities often leading to death in the first weeks of life. It is transmitted in an autosomal recessive pattern, and has been linked to at least 15 different genes; including protein O-mannosyltransferase 1 (POMT1), protein O-mannosyltransferase 2 (POMT2), protein O-mannose beta-1,2-N acetylglucosaminyltransferase (POMGNT1), fukutin (FKTN), isoprenoid synthase domain-containing protein (ISPD), and other genes. We report on a consanguineous family with four consecutive siblings affected by this condition with lethal outcome in three (still birth), and termination of the fourth pregnancy based on antenatal MRI identification of brain and kidney anomalies that heralded proper and deep clinical phenotyping. The diagnosis of WWS was suggested based on the unique collective phenotype comprising brain anomalies in the form of lissencephaly, subcortical/subependymal heterotopia, and cerebellar hypoplasia shared by all four siblings; microphthalmia in one sibling; and large cystic kidneys in the fetus and another sibling. Other unshared neurological abnormalities included hydrocephalus and Dandy-Walker malformation. Whole exome sequencing of the fetus revealed a highly conserved missense mutation in POMT2 that is known to cause WWS with brain and eye anomalies.In conclusion, the heterogeneous clinical presentation in the four affected conceptions with POMT2 mutation expands the current clinical spectrum of POMT2-associated WWS to include large cystic kidneys; and confirms intra-familial variability in terms of brain, kidney, and eye anomalies.


Subject(s)
Fetal Diseases/pathology , Kidney Diseases, Cystic/pathology , Mannosyltransferases/genetics , Mutation, Missense , Walker-Warburg Syndrome/complications , Female , Fetal Diseases/genetics , Genetic Predisposition to Disease , Humans , Kidney Diseases, Cystic/etiology , Male , Pedigree , Phenotype , Pregnancy , Siblings , Walker-Warburg Syndrome/genetics , Exome Sequencing/methods
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