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1.
J Environ Manage ; 365: 121515, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38943753

RESUMO

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.


Assuntos
Biocombustíveis , Biomassa , Microalgas , Nitrogênio , Fósforo , Scenedesmus , Scenedesmus/metabolismo , Microalgas/metabolismo , Fósforo/química , Análise da Demanda Biológica de Oxigênio , Anaerobiose , Metano/metabolismo , Poluentes Químicos da Água , Solubilidade
2.
J Environ Manage ; 351: 119847, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38142597

RESUMO

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.


Assuntos
Microalgas , Scenedesmus , Águas Residuárias , Resíduos Sólidos , Nutrientes , Biomassa , Scenedesmus/química , Lipídeos , Nitrogênio/análise
3.
Cell Commun Signal ; 21(1): 3, 2023 01 05.
Artigo em Inglês | MEDLINE | ID: mdl-36604713

RESUMO

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.


Assuntos
Células Epiteliais , Infecções por Escherichia coli , Glândulas Mamárias Animais , Receptores Depuradores , Receptor 4 Toll-Like , Animais , Endocitose , Células Epiteliais/metabolismo , Células Epiteliais/microbiologia , Escherichia coli , Receptores Depuradores/metabolismo , Transdução de Sinais , Receptor 4 Toll-Like/metabolismo , Cabras , Glândulas Mamárias Animais/microbiologia , Infecções por Escherichia coli/veterinária
4.
Ann Neurol ; 84(5): 638-647, 2018 11.
Artigo em Inglês | MEDLINE | ID: mdl-30178464

RESUMO

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.


Assuntos
Tronco Encefálico/anormalidades , Caderinas/genética , Malformações do Sistema Nervoso/genética , Malformações do Sistema Nervoso/patologia , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Mutação , Protocaderinas
5.
Am J Med Genet A ; 173(10): 2697-2702, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28815891

RESUMO

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.


Assuntos
Doenças Fetais/patologia , Doenças Renais Císticas/patologia , Manosiltransferases/genética , Mutação de Sentido Incorreto , Síndrome de Walker-Warburg/complicações , Feminino , Doenças Fetais/genética , Predisposição Genética para Doença , Humanos , Doenças Renais Císticas/etiologia , Masculino , Linhagem , Fenótipo , Gravidez , Irmãos , Síndrome de Walker-Warburg/genética , Sequenciamento do Exoma/métodos
6.
J Comput Assist Tomogr ; 41(1): 15-17, 2017 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-27680417

RESUMO

OBJECTIVE: A previous study of the computed tomography (CT) of the neck of mummified Ramesses III (1190-1070 BC) suggested that an assailant slit the Pharaoh's throat with a knife in the plot known as Harem conspiracy. We hypothesized the presence of other injuries in the Pharaoh's body as a result of this fatal attack. METHODS: We analyzed CT images of mummified Ramesses III and reported any finding suggestive of trauma in correlation with archeologic literature. RESULTS: Computed tomographic images show partially amputated left big toe. The bony edges are sharp without signs of attempted healing. The ancient embalmers replaced the missing toe with a linen-made prosthesis and placed 6 metallic amulets (eye of Horus) at the feet region. CONCLUSIONS: The Pharaoh's left big toe was likely chopped perimortem by an assailant using a heavy sharp instrument as an ax. This additional injury supports the plot and gives more information about the death scene.


Assuntos
Amputação Traumática/diagnóstico por imagem , Amputação Traumática/história , Traumatismos do Pé/diagnóstico por imagem , Traumatismos do Pé/história , Homicídio/história , Múmias/história , Antigo Egito , Medicina Legal/métodos , História Antiga , Humanos , Masculino , Tomografia Computadorizada por Raios X
7.
Am J Med Genet A ; 167A(5): 1089-99, 2015 May.
Artigo em Inglês | MEDLINE | ID: mdl-25755095

RESUMO

The term fetal brain disruption sequence (FBDS) was coined to describe a number of sporadic conditions caused by numerous external disruptive events presenting with variable imaging findings. However, rare familial occurrences have been reported. We describe five patients (two sib pairs and one sporadic) with congenital severe microcephaly, seizures, and profound intellectual disability. Brain magnetic resonance imaging (MRI) revealed unique and uniform picture of underdeveloped cerebral hemispheres with increased extraxial CSF, abnormal gyral pattern (polymicrogyria-like lesions in two sibs and lissencephaly in the others), loss of white matter, dysplastic ventricles, hypogenesis of corpus callosum, and hypoplasia of the brainstem, but hypoplastic cerebellum in one. Fetal magnetic resonance imaging (FMRI) of two patients showed the same developmental brain malformations in utero. These imaging findings are in accordance with arrested brain development rather than disruption. Molecular analysis excluded mutations in potentially related genes such as NDE1, MKL2, OCLN, and JAM3. These unique clinical and imaging findings were described before among familial reports with FBDS. However, our patients represent a recognizable phenotype of developmental brain malformations, that is, apparently distinguishable from either familial microhydranencephaly or microlissencephaly that were collectively termed FBDS. Thus, the use of the umbrella term FBDS is no longer helpful. Accordingly, we propose the term fetal brain arrest to distinguish them from other familial patients diagnosed as FBDS. The presence of five affected patients from three unrelated consanguineous families suggests an autosomal-recessive mode of inheritance. The spectrum of fetal brain disruption sequence is reviewed.


Assuntos
Cerebelo/anormalidades , Deficiência Intelectual/fisiopatologia , Microcefalia/genética , Microcefalia/fisiopatologia , Malformações do Sistema Nervoso/genética , Malformações do Sistema Nervoso/fisiopatologia , Adulto , Encéfalo/diagnóstico por imagem , Encéfalo/fisiopatologia , Moléculas de Adesão Celular/genética , Cerebelo/diagnóstico por imagem , Cerebelo/fisiopatologia , Deficiências do Desenvolvimento/diagnóstico por imagem , Deficiências do Desenvolvimento/genética , Deficiências do Desenvolvimento/fisiopatologia , Feminino , Humanos , Lactente , Recém-Nascido , Deficiência Intelectual/diagnóstico por imagem , Deficiência Intelectual/genética , Imageamento por Ressonância Magnética , Masculino , Microcefalia/diagnóstico por imagem , Proteínas Associadas aos Microtúbulos/genética , Mutação , Malformações do Sistema Nervoso/diagnóstico por imagem , Ocludina/genética , Fenótipo , Radiografia , Irmãos , Fatores de Transcrição/genética
8.
J Comput Assist Tomogr ; 39(3): 301-6, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25695867

RESUMO

OBJECTIVE: It has been widely disseminated in the literature that subcutaneous packing, as part of mummification, was not usually done until the 21st dynasty. We aimed to study by computed tomography (CT) if subcutaneous packing was part of mummification of royal Egyptians dated to 18th to 20th dynasties. MATERIALS AND METHODS: We analyzed the 2- and 3-dimensional CT images of 13 royal mummies dated to circa 1550 to 1153 BC for presence of subcutaneous embalming materials. Among the studied mummies were Amenhotep III, Tutankhamun, Seti I, and Ramesses II. We reported the CT characters of any detected subcutaneous embalming materials and noted their impact on the morphology of the involved body part. We correlated the CT findings with the archeological literature. RESULTS: Computed tomographic images showed subcutaneous packing in 12 (92.3%) mummies; whereas the mummy that was previously known as "Thutmose I" showed no such evidence. Subcutaneous packing involved the faces (n = 11), necks (n = 4), torsos (n = 5), and/or extremities (n = 4) of the mummies. Subcutaneous filling materials showed variation in homogeneity and CT densities and they were likely composed of resin, bits of linen with resin, or other substances. Subcutaneous packing procedure succeeded in providing uniform full contour of the involved body regions without causing significant tissue damages. CONCLUSIONS: Subcutaneous packing procedure was used as part of mummification of royal Ancient Egyptians dated to 18th to 20th dynasties earlier than what was believed in archaeology. The Ancient Egyptian embalmers must have been skilled in dissection and possessed surgical tools that enabled them to perform this fine procedure.


Assuntos
Embalsamamento/história , Corpos Estranhos/diagnóstico por imagem , Corpos Estranhos/história , Múmias/diagnóstico por imagem , Múmias/história , Tomografia Computadorizada por Raios X , Antigo Egito , Pessoas Famosas , História Antiga , Humanos
9.
J Comput Assist Tomogr ; 38(2): 153-8, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24625610

RESUMO

OBJECTIVE: The objective of this study was to study the role of multidetector computed tomography (MDCT) in the analysis of foreign objects found within or on the royal Egyptian mummies. METHODS: We studied MDCT images of 15 royal Egyptian mummies (1493-1156 BC) for the presence of foreign objects. We studied each found object for its location, morphology, dimensions, and density in correlation with the archeologic literature. RESULTS: We detected 14 objects in 6 mummies: a heart amulet, 3 Eye of Horus, 4 Sons of Horus, a crowned-Osiris amulet, 2 bracelets, 2 sets of beads/stones, and an arrowhead that may be linked to injury. The MDCT images suggested the material of the objects to be metal (n = 6), semiprecious stone (n = 1), quartzlike (faience) (n = 2), and fired clay (n = 5). Placement of an amulet within the heart supports our knowledge that its funeral purpose was meant for the purpose of protection. CONCLUSIONS: Multidetector computed tomography offers a detailed noninvasive analysis of objects on/in mummies and differentiates funerary objects from those that may be related to cause of death.


Assuntos
Corpos Estranhos/diagnóstico por imagem , Joias , Tomografia Computadorizada Multidetectores , Múmias/diagnóstico por imagem , Egito , Humanos
10.
Int Immunopharmacol ; 126: 111213, 2024 Jan 05.
Artigo em Inglês | MEDLINE | ID: mdl-37995572

RESUMO

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.


Assuntos
Infecções por Escherichia coli , Mastite Bovina , Infecções Estafilocócicas , Humanos , Feminino , Animais , Bovinos , Escherichia coli/fisiologia , Staphylococcus aureus/fisiologia , Regulação da Expressão Gênica , Cabras/genética , Cabras/metabolismo , Glândulas Mamárias Animais/metabolismo , Perfilação da Expressão Gênica , Citocinas/metabolismo , Células Epiteliais/metabolismo
11.
AJR Am J Roentgenol ; 200(4): W336-44, 2013 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-23521476

RESUMO

OBJECTIVE: The objective of our study was to use MDCT to study brain treatment and removal (excerebration) as part of mummification of royal Egyptian mummies dated to the 18th to early 20th Dynasties and to correlate the imaging findings with the archaeologic literature. MATERIALS AND METHODS: As part of an MDCT study of the Royal Ancient Egyptian Mummies Project, we analyzed CT images of the heads of 12 mummies dated to circa 1493-1156 BC (18th to early 20th Dynasties). We reconstructed and analyzed CT images for the presence of cranial defects, brain remnants, intracranial embalming materials, and nasal packs. We compared the CT findings of mummies dated to the 18th Dynasty with those dated to the 19th to early 20th Dynasties. RESULTS: The Akhenaten mummy was excluded because of extensive postmortem skull fractures. CT showed that no brain treatment was offered to three mummies (Thutmose I, II, and III) who dated to the early 18th Dynasty and was offered to the eight mummies who dated later. The route of excerebration was transnasal in eight mummies; an additional suspected route was via a parietal defect. CT showed variable appearances of the intracranial contents. There were larger volumes of cranial packs and more variability in the appearances of the cranial packs in the royal mummies dated to the 19th to 20th Dynasties than in those dated to the 18th Dynasty. CONCLUSION: MDCT shows variations in brain treatment during mummification of royal Egyptian mummies (18th-20th Dynasties). This study sets a template for future CT studies of the heads of ancient Egyptian mummies and focuses on the key elements of cranial mummification in this ancient era.


Assuntos
Arqueologia , Encéfalo/diagnóstico por imagem , Múmias/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Antigo Egito , Embalsamamento/história , Embalsamamento/métodos , História Antiga , Humanos , Múmias/história
12.
Brain ; 135(Pt 8): 2416-27, 2012 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-22822038

RESUMO

We describe six cases from three unrelated consanguineous Egyptian families with a novel characteristic brain malformation at the level of the diencephalic-mesencephalic junction. Brain magnetic resonance imaging demonstrated a dysplasia of the diencephalic-mesencephalic junction with a characteristic 'butterfly'-like contour of the midbrain on axial sections. Additional imaging features included variable degrees of supratentorial ventricular dilatation and hypoplasia to complete agenesis of the corpus callosum. Diffusion tensor imaging showed diffuse hypomyelination and lack of an identifiable corticospinal tract. All patients displayed severe cognitive impairment, post-natal progressive microcephaly, axial hypotonia, spastic quadriparesis and seizures. Autistic features were noted in older cases. Talipes equinovarus, non-obstructive cardiomyopathy and persistent hyperplastic primary vitreous were additional findings in two families. One of the patients required shunting for hydrocephalus; however, this yielded no change in ventricular size suggestive of dysplasia rather than obstruction. We propose the term 'diencephalic-mesencephalic junction dysplasia' to characterize this autosomal recessive malformation.


Assuntos
Diencéfalo/anormalidades , Diencéfalo/patologia , Genes Recessivos/genética , Mesencéfalo/anormalidades , Mesencéfalo/patologia , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Linhagem , Adulto Jovem
13.
Inflamm Regen ; 43(1): 17, 2023 Feb 28.
Artigo em Inglês | MEDLINE | ID: mdl-36849892

RESUMO

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.

14.
Am J Med Genet A ; 158A(8): 1823-31, 2012 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-22786707

RESUMO

We describe two sibs with a lethal form of profound congenital microcephaly, intrauterine and postnatal growth retardation, subtle skeletal changes, and poorly developed brain. The sibs had striking absent cranial vault with sloping of the forehead, large beaked nose, relatively large ears, and mandibular micro-retrognathia. Brain magnetic resonance imaging (MRI) revealed extremely simplified gyral pattern, large interhemispheric cyst and agenesis of corpus callosum, abnormally shaped hippocampus, and proportionately affected cerebellum and brainstem. In addition, fundus examination showed foveal hypoplasia with optic nerve atrophy. No abnormalities of the internal organs were found. This profound form of microcephaly was identified at 17 weeks gestation by ultrasound and fetal brain MRI helped in characterizing the developmental brain malformations in the second sib. Molecular analysis excluded mutations in potentially related genes such as RNU4ATAC, SLC25A19, and ASPM. These clinical and imaging findings are unlike that of any recognized severe forms of microcephaly which is believed to be a new microcephalic primordial dwarfism (MPD) with developmental brain malformations with most probably autosomal recessive inheritance based on consanguinity and similarly affected male and female sibs.


Assuntos
Encéfalo/anormalidades , Nanismo/complicações , Microcefalia/complicações , Feminino , Humanos , Lactente , Cariotipagem , Imageamento por Ressonância Magnética , Masculino , Mutação , Síndrome
15.
Front Med (Lausanne) ; 9: 1028377, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36760882

RESUMO

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."

16.
Virology ; 567: 65-76, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-35032865

RESUMO

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.


Assuntos
Proteínas de Ligação a Calmodulina/genética , Interações Hospedeiro-Patógeno/genética , Vírus da Febre do Vale do Rift/genética , Ubiquitina-Proteína Ligases/genética , Proteínas do Envelope Viral/genética , Animais , Anticorpos Neutralizantes/metabolismo , Anticorpos Antivirais/metabolismo , Proteínas de Ligação a Calmodulina/metabolismo , Linhagem Celular , Linhagem Celular Tumoral , Culex , Epitopos/química , Epitopos/metabolismo , Perfilação da Expressão Gênica , Regulação da Expressão Gênica , Células HEK293 , Hepatócitos/virologia , Humanos , Ligação Proteica , Vírus da Febre do Vale do Rift/metabolismo , Transdução de Sinais , Ubiquitina-Proteína Ligases/metabolismo , Proteínas do Envelope Viral/metabolismo , Replicação Viral
17.
Mol Syndromol ; 13(5): 389-396, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36588752

RESUMO

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.

18.
Am J Med Genet A ; 155A(12): 3035-41, 2011 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-22002884

RESUMO

We identified a two-branch consanguineous family in which four affected members (three females and one male) presented with constitutive growth delay, severe psychomotor retardation, microcephaly, cerebellar hypoplasia, and second-degree heart block. They also shared distinct facial features and similar appearance of their hands and feet. Childhood-onset insulin-dependent diabetes mellitus developed in one affected child around the age of 9 years. Molecular analysis excluded mutations in potentially related genes such as PTF1A, EIF2AK3, EOMES, and WDR62. This condition appears to be unique of other known conditions, suggesting a unique clinical entity of autosomal recessive mode of inheritance.


Assuntos
Cerebelo/anormalidades , Genes Recessivos , Cardiopatias Congênitas/genética , Microcefalia/genética , Adolescente , Encéfalo/patologia , Criança , Pré-Escolar , Consanguinidade , Diabetes Mellitus Tipo 1/complicações , Diabetes Mellitus Tipo 1/genética , Fácies , Feminino , Cardiopatias Congênitas/complicações , Cardiopatias Congênitas/diagnóstico , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Microcefalia/complicações , Microcefalia/diagnóstico , Linhagem , Fenótipo , Síndrome
19.
AJR Am J Roentgenol ; 197(5): W829-36, 2011 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-22021529

RESUMO

OBJECTIVE: The purpose of this study was to use MDCT to examine two mummies found in the tomb of King Tutankhamun to estimate their gestational ages at mummification, to determine the mummification method, and to investigate the congenital deformities of one of the mummies that had been suspected at previous medical examinations. MATERIALS AND METHODS: MDCT was performed on the mummies of the daughters of King Tutankhamun (article numbers 317a and 317b), and the images were reconstructed and subjected to forensic imaging analysis. RESULTS: The gestational ages at mummification of mummies 317a and 317b were estimated to be approximately 24.7 and 36.78 weeks. The skeletal congenital anomalies of mummy 317b suggested at past radiographic analysis were ruled out. CONCLUSION: The results of this study may set a precedent for use of CT and forensic image analysis in the study of ancient mummified fetuses.


Assuntos
Feto/diagnóstico por imagem , Múmias/diagnóstico por imagem , Tomografia Computadorizada por Raios X/métodos , Arqueologia , Feminino , História Antiga , Humanos , Imageamento Tridimensional , Núcleo Familiar/história
20.
Front Med (Lausanne) ; 8: 778498, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-35028305

RESUMO

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.

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