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A singular PTRH2 missense mutation leading to IMNEPD: an incident document.
Phosphatidylglycerol (PG) and phosphatidylinositol (PI) are two essential classes of glycerophospholipids (GPs), playing versatile roles such as signalling messengers and lipid-protein interaction ligands in cell. Although a majority of PG and PI molecular species contain unsaturated fatty acyl chain(s), conventional tandem mass spectrometry (MS/MS) methods cannot discern isomers different in carbon-carbon double bond (CC) locations. In this work, we paired phosphate methylation with acetone Paternò-Büchi (PB) reaction, aiming to provide a solution for sensitive and structurally informative analysis of these two important classes of GPs down to the location of CC. A liquid chromatography-tandem mass spectrometry (LC-MS/MS) workflow was established. Offline methylated PG or PI mixtures were subjected to hydrophilic interaction chromatographic separation, online acetone PB reaction, and MS/MS via collision-induced dissociation (CID) for CC location determination in positive ion mode. This method was sensitive, offering limit of identification at 5 nM for both PG and PI standards down to CC locations. On molecular species level, 49 PI and 31 PG were identified from bovine liver, while 61 PIs were identified from human plasma. This workflow also enabled ratiometric comparisons of CC location isomers (C181 Δ9 vs. Δ11) of a series of PIs from type 2 diabetes (T2D) plasma to that of normal plasma samples. PI 160_181 and PI 180_181 were found to exhibit significant changes in CC isomeric ratios between T2D and normal plasma samples. Veliparib molecular weight The above results demonstrate that the developed LC-PB-MS/MS workflow is applicable to different classes of lipids and compatible with other established lipid derivatization methods to achieve comprehensive lipid analysis.Although antibody has played a great role in highly specific recognition of protein biomarkers, it faces poor stability, reproducibility, high-cost and time-consuming preparation, etc. Here, aptamer and molecularly imprinted polymers (MIPs), both as promising substitutes of antibody, were integrated onto magnetic nanoparticles by Au-S bonds and SiO2 as imprinted layer for preparing a new nanoprobe. Highly specific and sensitive recognition of different protein biomarkers, such as insulin for diabetes and alpha-fetoprotein (AFP) for hepatic carcinoma, were achieved respectively by the system of combining hybrid aptamer-molecularly imprinted magnetic nanoprobe and mass spectrometry. With the double affinities offered by aptamer-MIPs, insulin can be detected at 0.5 ng mL-1 in human serum dilution, the equlibrium dissociation constant between nanoprobe and insulin is measured as 23.61 ± 2.27 μM. Likewise, AFP can be sufficiently detected in human saliva dilution from 1000 ng mL-1 to 20 ng mL-1, and two patients with hepatic carcinoma are discriminated from healthy person due to the abnormally high expression of AFP in serum.A group of senior doctors with vast clinical experience met on 19th July'20 under the aegis of Academy of Advanced Medical Education. The panel looked at Ivermectin, one of the old molecule and evaluated it's use in COVID 19 (Novel Coronavirus Disease 2019) management. After critical panel discussion, all the attending doctors came to a conclusion that Ivermectin can be a potential molecule for prophylaxis and treatment of people infected with Coronavirus, owing to its anti-viral properties coupled with effective cost, availability and good tolerability and safety.A 17-year-old female patient who came to the Otorhinolaryngology and Head and Neck Surgery department with chief complaints of bilateral ear discharge and hearing loss Since 1 year. She was diagnosed as a case of Turner syndrome based on Cardic-CT, USG-pelvis, CT-MRI Pelvis with Abdomen Screening, and Chromosomal analysis revealed 45, X pattern in all the metaphases. In the Preoperative investigations, Pure tone audiometry shows left ear (83dB HL) severe mixed hearing loss and right ear has (63dB HL) with moderately severe mixed hearing loss and in HRCT-Temporal bone features suggesting the most possibility of bilateral Cholesteatoma. Pre operatively Left ear soft tissue Histopathological examination was showed Cholesteatoma with active inflammation. Tympanomastoidectomy was planned for left ear and performed the procedure was Canal wall down mastoidectomy with type 3 tympanoplasty. Intraoperatively findings were thick KORNER'S septum, full of pale non bleeding granulations in antrum, aditus and around ossicles were observed in the middle ear. After surgery, Postoperative histopathology report showed necrotizing granulomatous inflammation consistent with tuberculosis (special stain for AFB is positive). In conclusion primarily this is a very rare case of Tuberculous Otitis Media. In such type of cases there are more chances of misdiagnosing by many clinicians as Tuberculosis was rarely occur in the ear and most of the findings are also absent as seen in our case. It is difficult to identify and diagnose the case at initial stages of a disease. In such type of cases outcome of patients is poor due to delayed diagnosis.Noncontiguous multiple tuberculous spondylitis is not uncommon, and most of the reported cases have lesions only on 2 or 3 levels. To the best of our knowledge, multifocal extensive spinal TB involving the whole spine is rarely reported in the literature, which may be presented as asymptomatic and have a higher incidence of neurological complications. It is noticeable that the possibility of TB is considered for any skip lesions involving the spine cautiously. Diagnosis and treatment at early stages would resolve the neurological deficits without operation.Cutaneous tuberculosis occurs in 1-2% of world cases of tuberculosis and more common in tropical countries. It presents with different clinical forms. Unusual clinical presentations are not uncommon and awareness of these will help in suspecting and managing these patients successfully. Lupus pernio like lupus vulgaris, tuberculosis of glans penis and lichen scrofulosorum on the distal parts of limbs are presented here because of their unusual clinical presentation.
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