RESUMO
UNLABELLED: A 19-year-old woman was diagnosed with osteogenesis imperfecta (OI). She had sustained numerous low-trauma fractures throughout her childhood, including a recent pelvic fracture (superior and inferior ramus) following a low-impact fall. She had the classical blue sclerae, and dual energy X-ray absorptiometry (DEXA) bone scanning confirmed low bone mass for her age in the lumbar spine (Z-score was -2.6). However, despite these classical clinical features, the diagnosis of OI had not been entertained throughout the whole of her childhood. Sequencing of her genomic DNA revealed that she was heterozygous for the c.3880_3883dup mutation in exon 50 of the COL1A1 gene. This mutation is predicted to result in a frameshift at p.Thr1295, and truncating stop codon 3 amino acids downstream. To our knowledge, this mutation has not previously been reported in OI. LEARNING POINTS: OI is a rare but important genetic metabolic bone and connective tissue disorder that manifests a diverse clinical phenotype that includes recurrent low-impact fractures.Most mutations that underlie OI occur within exon 50 of the COL1A1 gene (coding for protein constituents of type 1 pro-collagen).The diagnosis of OI is easily missed in its mild form. Early diagnosis is important, and there is a need for improved awareness of OI among health care professionals.OI is a diagnosis of exclusion, although the key diagnostic criterion is through genetic testing for mutations within the COL1A1 gene.Effective management of OI should be instituted through a multidisciplinary team approach that includes a bone specialist (usually an endocrinologist or rheumatologist), a geneticist, an audiometrist and a genetic counsellor. Physiotherapy and orthopaedic surgery may also be required.
RESUMO
For several hundred years, Patrinia heterophylla has been used in traditional Chinese medicine as a treatment for abscesses, hepatitis, tonsillitis, ulcers, etc. Recent research suggests that it may also have some anti-cancer activity. We have extracted five pure compounds from this plant; two known flavonols without bio-activity, one known isocoumarin glucoside that exhibits some cytotoxic activity toward HeLa cervical cancer cells, and two novel compounds that show considerable cytotoxic activity toward HeLa cells.
Assuntos
Benzopiranos/química , Medicamentos de Ervas Chinesas/química , Patrinia/química , Benzopiranos/isolamento & purificação , Benzopiranos/farmacologia , Sobrevivência Celular/efeitos dos fármacos , Cristalografia por Raios X , Medicamentos de Ervas Chinesas/isolamento & purificação , Medicamentos de Ervas Chinesas/farmacologia , Flavonóis/química , Flavonóis/isolamento & purificação , Flavonóis/farmacologia , Glucosídeos/química , Glucosídeos/isolamento & purificação , Glucosídeos/farmacologia , Células HeLa , Humanos , Estrutura Molecular , Ressonância Magnética Nuclear Biomolecular , Rotação Ocular , Plantas Medicinais/química , Espectrometria de Massas de Bombardeamento Rápido de ÁtomosRESUMO
Three new cycloartane bisdesmosides, two of which are based on a new genin, were isolated from the above-ground parts of Thalictrum minus. Thalicosides A1-A3 (1-3) were characterized as 3-O-beta-D-galactopyranosyl-29-O-beta-D-glucopyranosyl-3beta,16beta++ +, 29-trihydroxy-22(S),25-epoxycycloartane (1); 3-O-alpha-L-arabinopyranosyl-29-O-beta-D-glucopyranosyl-3beta,1 6beta, 29,22(S)-tetrahydroxycycloart-24-ene (2); and 3-O-alpha-L-arabinopyranosyl-29-O-beta-D-glucopyranosyl-3beta,1 6beta, 29-trihydroxy-22(S),25-epoxycycloartane (3), respectively. The structural assignments of these new compounds were based on interpretation of spectroscopic data. Thalicoside A2 showed in vitro inhibition of the fungus Candida albicans and also activity against Staphylococcus aureus.
Assuntos
Glicosídeos/isolamento & purificação , Plantas/química , Triterpenos/isolamento & purificação , Antibacterianos , Anti-Infecciosos/química , Anti-Infecciosos/isolamento & purificação , Anti-Infecciosos/farmacologia , Candida albicans/efeitos dos fármacos , Glicosídeos/química , Glicosídeos/farmacologia , Testes de Sensibilidade Microbiana , Estrutura Molecular , Análise Espectral , Staphylococcus aureus/efeitos dos fármacos , Triterpenos/química , Triterpenos/farmacologiaRESUMO
Squarroside C (1), a new cycloartane 3,21-bisdesmoside, was isolated from the above-ground parts of Thalictrum squarrosum. The structure of 1 was established as 3-O-[O-alpha-L-rhamnopyranosyl-(1-->6)-beta-D-glucopyranosyl]-21-O-be ta-D-glucopyranosyl-21(S),22(S),23(R),3beta,21alpha,22beta, 30-tetrahydroxy-21,23-epoxycycloart-24-ene by 2D NMR spectroscopy and FABMS.
Assuntos
Plantas Medicinais/química , Saponinas/química , Triterpenos , Sequência de Carboidratos , Cromatografia em Camada Fina , Espectroscopia de Ressonância Magnética , Conformação Molecular , Dados de Sequência Molecular , Saponinas/isolamento & purificação , Sibéria , Espectrofotometria InfravermelhoRESUMO
A new triterpenoid saponin, thalicoside F was isolated from the above-ground part of Thalictrum minus L. (Ranunculaceae family) collected in Eastern Siberia (Russia). The structure of thalicoside F was elucidated by a combination of 1D- and 2D-NMR spectroscopy and mass spectroscopy, and was determined to be C47H74O17{3-beta-O-[alpha-L-rhamnopyranosyl-(1-->2)-beta-D- glucopyranosyl-(1-->4)-alpha-L-arabinopyranosyl]-11 alpha, 12 alpha-epoxyoleanane-28,13 beta-olide}.
Assuntos
Glicosídeos/química , Ácido Oleanólico/análogos & derivados , Plantas Medicinais , Saponinas/química , Triterpenos/química , Sequência de Carboidratos , Glicosídeos/isolamento & purificação , Espectrometria de Massas , Dados de Sequência Molecular , Estrutura Molecular , Ressonância Magnética Nuclear Biomolecular , Extratos Vegetais , Saponinas/isolamento & purificação , Sibéria , Triterpenos/isolamento & purificaçãoRESUMO
Four oleanne triterpene saponins, 3beta,16beta, 23-trihydroxy-keton-13beta,28-epoxyolean-9(11)-en-3-yl -[beta-D-glucopranosyl(1-->2)]-[beta-D-glucopyranosyl(1-->3)]-beta -D-fucopyranoside [1] (clinopodiside D), 16beta-propionyl-3beta,23-dihydroxyoleana-11-21-dien-3 -yl-[beta-D-glucopyranosyl(1-->2)]-[beta-D-glucopranosyl(1-->3)]-b eta-D-fucopyranoside [2] (clinipodiside E), 3beta,16beta,21alpha,23,28-pentahydroxy-11-methoxyolean++ +-12-en-3-yl-[beta-D-glucopyranolyl(1-->2)]-[beta-D-glucopyranosyl (1-->3)]-beta-D-fucopyranoside [3] (clinopodiside F), and 3beta,16beta,21beta,23,28-pentahydroxyoleana-11,13(18) -dien-3-yl-[beta-D-glucopyranosyl(1-->2)]-[beta-D-glucopyranosyl(1 -->3)]-beta-D-fucopyranoside [4] (clinopodiside G), were isolated and purified from the plant Clinopodium chinensis. Their structures were elucidated on the basis of interpretation of nmr and ms data and from chemical evidence. The results are of potential interest for medicinal reasons.
Assuntos
Medicamentos de Ervas Chinesas/isolamento & purificação , Plantas Medicinais/química , Saponinas/isolamento & purificação , Sequência de Carboidratos , Medicamentos de Ervas Chinesas/química , Espectroscopia de Ressonância Magnética , Dados de Sequência Molecular , Saponinas/química , Espectrometria de Massas de Bombardeamento Rápido de ÁtomosRESUMO
Three new triterpenoid saponins were isolated from the roots of Gypsophila oldhamiana. Their structures were elucidated, using a combination of homonuclear and heteronuclear 2D nmr and fabms, as 3-0-beta-D-galactopyranosyl-(1-->2)-[beta-D-xylopyranolyl-(1-->3)] -beta-D-glucuronopyranosyl quillaic acid methyl ester [1], 3-0-beta-D-galactopyranosyl-(1-->2)-[beta-D-xylopyranosyl-(1-->3)]-beta- D-glucuronopyranosyl gypsogenin methyl ester [2], and 3-0-beta-D-galactopyranolsyl-(1-->2)-[beta-D-xylopyranosyl-(1-->3) ]-beta-D-glucuronopyranosyl quillaic acid 28-[0-beta-D-fucopyranosyl(1-->4)-beta-D-glucopyranosyl(1-->3)]-alpha-L- rhamnopyranosyl] ester.
Assuntos
Ácido Oleanólico/análogos & derivados , Plantas Medicinais/química , Saponinas/isolamento & purificação , Sequência de Carboidratos , Espectroscopia de Ressonância Magnética , Medicina Tradicional Chinesa , Dados de Sequência Molecular , Raízes de Plantas/química , Saponinas/química , Espectrometria de Massas de Bombardeamento Rápido de ÁtomosRESUMO
The activity of phospholipase A2 from snake venom to hydrolyze bilayers of phosphatidylcholines is greatly enhanced by the presence of the hydrolysis products, lysolecithin and fatty acid, in the bilayer. The fluorescence of several probes of membrane structure was used to monitor changes in bilayer physical properties during vesicle hydrolysis. These changes were compared to emission spectra and fluorescence polarization results occurring upon direct addition of lysolecithin and/or fatty acid to the bilayer. The excimer to monomer ratio of 1,3-bis(1-pyrene)propane was insensitive to vesicle hydrolysis, suggesting that changes in the order of the phospholipid chains were not relevant to the effect of the hydrolysis products on phospholipase activity. The fluorescence of 6-propionyl-2-(dimethylamino)-naphthalene (Prodan) suggested that the polarity of the bilayer in the region of the phospholipid head groups increases as the hydrolysis products accumulate in the bilayer. The fluorescence of 6-dodecanoyl-2-(dimethylamino)naphthalene (Laurdan) confirmed that such effects were restricted to the bilayer surface. Furthermore, the lysolecithin appeared to be the product most responsible for these changes. These results suggested that lysolecithin increases the activity of phospholipase A2 during vesicle hydrolysis by disrupting the bilayer surface, making the phospholipid molecules more accessible to the enzyme active site.
Assuntos
Agkistrodon , Venenos de Crotalídeos/enzimologia , Bicamadas Lipídicas/metabolismo , Fosfatidilcolinas/metabolismo , Fosfolipases A/metabolismo , 2-Naftilamina/análogos & derivados , Animais , Corantes Fluorescentes , Hidrólise , Cinética , Bicamadas Lipídicas/química , Lisofosfatidilcolinas/farmacologia , Ácido Palmítico , Ácidos Palmíticos/farmacologia , Fosfolipases A/efeitos dos fármacos , Fosfolipases A2 , Espectrometria de FluorescênciaRESUMO
Two new triterpenoid saponins, 3 beta,16 beta,23-trihydroxy-13,28-epoxyolean- 11-en-3-yl-[beta-D-glucopyranosyl(1-->4)-beta-D-glucopyranosyl(1-->3)]- [beta-D-glucopyranosyl(1-->2)]-beta-D-fucopyranoside[1](clinopodiside B) and 28-O-beta-D-glucopyranosyl-3 beta,23-dihydroxyoleana-12,21-dien-3-yl-beta-D-glucopyranosy l-(1-->3)-beta-D- fucopyranoside [3] (clinopodiside C), together with three known saikosaponins, buddlejasaponins IV, IVa, and IVb, have been isolated from the plant, Clinopodium chinensis, and characterized using chemical evidence and spectroscopic methods, in particular 2D nmr spectroscopy.
Assuntos
Medicamentos de Ervas Chinesas/análise , Saponinas/química , Triterpenos/química , Sequência de Carboidratos , Espectroscopia de Ressonância Magnética , Dados de Sequência Molecular , Espectrometria de Massas de Bombardeamento Rápido de ÁtomosRESUMO
High-field nmr experiments have been used to determine the structures of three new saponins, zizyphoisides C, D, and E [1-3], isolated from Alphitonia zizyphoides, a medicinal plant found in the Samoan rain forest. The saponins consist of the aglycone, jujubogenin, to which are attached three sugar units and an unsaturated side-chain. The three compounds are similar except for the location of an acetyl group on one of the sugar units.
Assuntos
Plantas Medicinais/química , Saponinas/química , Triterpenos/química , Sequência de Carboidratos , Estado Independente de Samoa , Espectroscopia de Ressonância Magnética , Espectrometria de Massas , Dados de Sequência MolecularRESUMO
This paper illustrates the use of the program CCBond to determine the carbon skeletons of bioorganic molecules in low concentration samples. Discussed is the structure elucidation of bistramide A, a compound extracted from a Fijian Lissoclinum sp. and cholesterol in 71- and 20-mumol samples, respectively. The detection limit of the automated bond extraction is shown to be dramatically improved compared to the manual interpretation of 2D INADEQUATE spectra.