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2022 ◽  
Vol 0 (0) ◽  
Author(s):  
Adrienne Ndiolene ◽  
Tidiane Diop ◽  
Ndiak Ndiaye ◽  
Mouhamadou Sembene Boye ◽  
François Michaud ◽  
...  

Abstract Two novel zinc(II) complexes containing 4-methoxybenzylidene moieties namely, Zn(L)Cl2 (L = N, N′-bis(4-methoxybenzylidene)ethane-1, 2-diamine (1) or N-(4-methoxybenzylidene)-ethane-1, 2-diamine (2)) have been synthesized and characterized by infrared spectroscopy and single-crystal X-ray diffraction. Complex 1 crystallizes in the monoclinic space group P21/c with a = 9.2315(4); b = 12.0449(4); c = 18.2164(7) Å; β = 98.472(4)°, V = 1278.9(4) Å3 and Z = 4. Complex 2 crystallizes in the monoclinic space group P21/n with a = 6.5733 (2), b = 13.6595(5), c = 15.1615(5) Å; β = 101.846(4)°, V = 1332.33(8) Å3 and Z = 4. The environment of each Zn(II) atom is distorted tetrahedral with coordination of two terminal Cl atoms and two N atoms of the N,N′ – bis(4-methoxybenzylidene)ethane-1,2-diamine (1) or N-(4-methoxybenzylidene)ethane-1,2-diamine (2) ligand. The stability of the crystalline structure is ensured by the existence of intra- and intermolecular hydrogen bonds of the type C–H…Cl (1) and N–H…Cl (2) leading to supramolecular topologies.


2022 ◽  
Vol 16 (1) ◽  
Author(s):  
Mohammad Barzegar ◽  
Fatemeh Valaee ◽  
Shadi Ghoreishizadeh

Abstract Background Niemann–Pick is a rare metabolic disease distinguished by lysosomal storage defects. This disease is characterized by sphingomyelinase acid deficiency, causing its accumulation in various organs such as the kidneys, spleen, liver, brain, and nerves. Niemann–Pick disease is categorized into four groups: A, B, C, and D. Peripheral neuropathy is an extremely rare complication in patients with Niemann–Pick type C, which certainly leads to neurologic deterioration. Case presentation We report a case of Niemann–Pick type C disease in a 3-year-old Iranian Azeri female patient who was hospitalized twice. The first time was at 1 month of age with symptoms of splenomegaly, jaundice, and elevated liver enzymes, and the second time was at around age 2 for loss of mental and physical abilities. The patient presented with failure to thrive. According to paraclinical examinations, mildly delayed myelination along with a nonspecific periventricular hypersignal intensity was seen. Interestingly, the patient’s Niemann–Pick type C enzymatic function was evaluated twice and was negative on both occasions, while she was positive for NPC1 and NPC2 gene examinations. Conclusions In this study, despite the enzymatic study being negative, Niemann–Pick type C disease was finally confirmed, revealing the importance of mutations in Niemann–Pick type C pathogenesis. Besides, peripheral neuropathy was diagnosed in this patient as a very rare symptom of Niemann–Pick type C.


2022 ◽  
Vol 13 (1) ◽  
Author(s):  
Tiffany Chern ◽  
Annita Achilleos ◽  
Xuefei Tong ◽  
Matthew C. Hill ◽  
Alexander B. Saltzman ◽  
...  

AbstractCombined methylmalonic acidemia and homocystinuria (cblC) is the most common inborn error of intracellular cobalamin metabolism and due to mutations in Methylmalonic Aciduria type C and Homocystinuria (MMACHC). Recently, mutations in the transcriptional regulators HCFC1 and RONIN (THAP11) were shown to result in cellular phenocopies of cblC. Since HCFC1/RONIN jointly regulate MMACHC, patients with mutations in these factors suffer from reduced MMACHC expression and exhibit a cblC-like disease. However, additional de-regulated genes and the resulting pathophysiology is unknown. Therefore, we have generated mouse models of this disease. In addition to exhibiting loss of Mmachc, metabolic perturbations, and developmental defects previously observed in cblC, we uncovered reduced expression of target genes that encode ribosome protein subunits. We also identified specific phenotypes that we ascribe to deregulation of ribosome biogenesis impacting normal translation during development. These findings identify HCFC1/RONIN as transcriptional regulators of ribosome biogenesis during development and their mutation results in complex syndromes exhibiting aspects of both cblC and ribosomopathies.


2022 ◽  
pp. 219256822110684
Author(s):  
Brian A. Karamian ◽  
Gregory D. Schroeder ◽  
Mark J. Lambrechts ◽  
Jose A. Canseco ◽  
Emiliano N. Vialle ◽  
...  

Study Design Global cross-sectional survey. Objective To explore the influence of geographic region on the AO Spine Sacral Classification System. Methods A total of 158 AO Spine and AO Trauma members from 6 AO world regions (Africa, Asia, Europe, Latin and South America, Middle East, and North America) participated in a live webinar to assess the reliability, reproducibility, and accuracy of classifying sacral fractures using the AO Spine Sacral Classification System. This evaluation was performed with 26 cases presented in randomized order on 2 occasions 3 weeks apart. Results A total of 8320 case assessments were performed. All regions demonstrated excellent intraobserver reproducibility for fracture morphology. Respondents from Europe (k = .80) and North America (k = .86) achieved excellent reproducibility for fracture subtype while respondents from all other regions displayed substantial reproducibility. All regions demonstrated at minimum substantial interobserver reliability for fracture morphology and subtype. Each region demonstrated >90% accuracy in classifying fracture morphology and >80% accuracy in fracture subtype compared to the gold standard. Type C morphology (p2 = .0000) and A3 (p1 = .0280), B2 (p1 = .0015), C0 (p1 = .0085), and C2 (p1 =.0016, p2 =.0000) subtypes showed significant regional disparity in classification accuracy (p1 = Assessment 1, p2 = Assessment 2). Respondents from Asia (except in A3) and the combined group of North, Latin, and South America had accuracy percentages below the combined mean, whereas respondents from Europe consistently scored above the mean. Conclusions In a global validation study of the AO Spine Sacral Classification System, substantial reliability of both fracture morphology and subtype classification was found across all geographic regions.


Author(s):  
Nikola Kresojević ◽  
Valerija Dobričić ◽  
Milica Ječmenica Lukić ◽  
Aleksandra Tomić ◽  
Igor Petrović ◽  
...  

2022 ◽  
Author(s):  
Nick Platt ◽  
Dawn Shepherd ◽  
Yuzhe Weng ◽  
Grant Charles Churchill ◽  
Antony Galione ◽  
...  

The lysosome is a dynamic signaling organelle that is critical for cell functioning. It is a regulated calcium store that can contribute to Ca2+-regulated processes via both local calcium release and more globally by influencing ER Ca2+release. Here, we provide evidence from studies of an authentic mouse model of the lysosomal storage disease Niemann-Pick Type C (NPC) that has reduced lysosomal Ca2+ levels, and genetically modified mice in which the two-pore lysosomal Ca2+ release channel family are deleted that lysosomal Ca2+ signaling is required for normal pro-inflammatory responses. We demonstrate that production of the pro-inflammatory cytokine IL-1beta via the NLRP3 inflammasome is significantly reduced in murine Niemann-Pick Type C, the inhibition is selective because secretion of TNF alpha is not diminished, and it is a consequence of inefficient inflammasome priming. Synthesis of precursor ProIL-1 beta is significantly reduced in macrophages genetically deficient in the lysosomal protein Npc1, which is mutated in most clinical cases of NPC, and in wild type cells in which Npc1 activity is pharmacologically inhibited. Comparable reductions in ProIL-1 beta generation were measured in vitro and in vivo by macrophages genetically altered to lack expression of the two-pore lysosomal Ca2+ release channels Tpcn1 or Tpcn2. These data demonstrate a requirement for lysosome-dependent Ca2+ signaling in the generation of specific pro-inflammatory responses.


2022 ◽  
Author(s):  
Jia Li ◽  
Richard William McLaughlin ◽  
Yingli Liu ◽  
Junying Zhou ◽  
Xueying Hu ◽  
...  

Abstract The aim of this study was to culture pathogenic bacteria from the blowhole, lung, stomach and fecal samples of a neonatal crucially endangered Yangtze finless porpoise (Neophocaena asiaeorientalis asiaeorientalis) that died 27 days after birth. Bacteria were inoculated and representative isolates were identified through 16S rRNA gene sequence analysis. A total of three Clostridium perfringens type C strains from the fecal samples were isolated. Toxin genes, including cpa, cpb and cpb2, were detected by PCR amplification, while the etx, iap and cpe genes were absent. Biofilm formation of the three strains was examined. Only one strain was able to form a biofilm. In addition, isolates showed strong resistance against the antibiotics amikacin (3/3), erythromycin (1/3), gentamicin (3/3), streptomycin (3/3), and trimethoprim (3/3), while sensitivity to ampicillin (3/3), bacitracin (3/3), erythromycin (2/3), penicillin G (3/3), and tetracycline (3/3). The results suggested C. perfringens type C could have contributed to the death of this neonatal porpoise.


2022 ◽  
Vol 12 (1) ◽  
pp. 422
Author(s):  
Giovanni Cilia ◽  
Giacomo Luchetti ◽  
Antonio Nanetti

The microsporidian Nosema ceranae is a severe threat to the western honey bee Apis mellifera, as it is responsible for nosemosis type C, which leads the colonies to dwindle and collapse. Infection quantification is essential to clinical and research aims. Assessment is made often with molecular assays based on rRNA genes, which are present in the N. ceranae genome as multiple and polymorphic copies. This study aims to compare two different methods of Real-Time PCR (qPCR), respectively relying on the 16S rRNA and Hsp70 genes, the first of which is described as a multiple and polymorphic gene. Young worker bees, hatched in the laboratory and artificially inoculated with N. ceranae spores, were incubated at 33 °C and subject to different treatment regimens. Samples were taken post-infection and analyzed with both qPCR methods. Compared to Hsp70, the 16S rRNA method systematically detected higher abundance. Straightforward conversion between the two methods is made impossible by erratic 16s rRNA/Hsp70 ratios. The 16s rRNA polymorphism showed an increase around the inoculated dose, where a higher prevalence of ungerminated spores was expected due to the treatment effects. The possible genetic background of that irregular distribution is discussed in detail. The polymorphic nature of 16S rRNA showed to be a limit in the infection quantification. More reliably, the N. ceranae abundance can be assessed in honey bee samples with methods based on the single-copy gene Hsp70.


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