A novel mutation in the NNT gene causing familial glucocorticoid deficiency, with a literature review
We report the case of a 3-year-old boy recently diagnosed with FGD type 4 due to a novel mutation in NNT gene. A homozygous variant in exon 18 of the NNT gene, NM_012343.3:c.2764C>T, p.(Arg922*), determines a stop codon and, consequently, a non-functional truncated protein or absence of protein due to the nonsense-mediated decay (NMD) mechanism. We review the recent literature on NNT mutations and clinical presentations, which are broader than suspected. This disorder can result in significant morbidity and is potentially fatal if untreated. Precise diagnosis allows correct treatment and follow up.PMID:37352919 | DOI:10...
Source: Annales d'Endocrinologie - June 23, 2023 Category: Endocrinology Authors: Natividad Pons Ana Moriano Bel én Taberner Andr és Tarragon Eva D íez Ÿngel Zuñiga Cabrera Source Type: research
A novel mutation in the NNT gene causing familial glucocorticoid deficiency, with a literature review
We report the case of a 3-year-old boy recently diagnosed with FGD type 4 due to a novel mutation in NNT gene. A homozygous variant in exon 18 of the NNT gene, NM_012343.3:c.2764C>T, p.(Arg922*), determines a stop codon and, consequently, a non-functional truncated protein or absence of protein due to the nonsense-mediated decay (NMD) mechanism. We review the recent literature on NNT mutations and clinical presentations, which are broader than suspected. This disorder can result in significant morbidity and is potentially fatal if untreated. Precise diagnosis allows correct treatment and follow up.PMID:37352919 | DOI:10...
Source: Annales d'Endocrinologie - June 23, 2023 Category: Endocrinology Authors: Natividad Pons Ana Moriano Bel én Taberner Andr és Tarragon Eva D íez Ÿngel Zuñiga Cabrera Source Type: research
A novel mutation in the NNT gene causing familial glucocorticoid deficiency, with a literature review
We report the case of a 3-year-old boy recently diagnosed with FGD type 4 due to a novel mutation in NNT gene. A homozygous variant in exon 18 of the NNT gene, NM_012343.3:c.2764C>T, p.(Arg922*), determines a stop codon and, consequently, a non-functional truncated protein or absence of protein due to the nonsense-mediated decay (NMD) mechanism. We review the recent literature on NNT mutations and clinical presentations, which are broader than suspected. This disorder can result in significant morbidity and is potentially fatal if untreated. Precise diagnosis allows correct treatment and follow up.PMID:37352919 | DOI:10...
Source: Annales d'Endocrinologie - June 23, 2023 Category: Endocrinology Authors: Natividad Pons Ana Moriano Bel én Taberner Andr és Tarragon Eva D íez Ÿngel Zuñiga Cabrera Source Type: research
A novel mutation in the NNT gene causing familial glucocorticoid deficiency, with a literature review
We report the case of a 3-year-old boy recently diagnosed with FGD type 4 due to a novel mutation in NNT gene. A homozygous variant in exon 18 of the NNT gene, NM_012343.3:c.2764C>T, p.(Arg922*), determines a stop codon and, consequently, a non-functional truncated protein or absence of protein due to the nonsense-mediated decay (NMD) mechanism. We review the recent literature on NNT mutations and clinical presentations, which are broader than suspected. This disorder can result in significant morbidity and is potentially fatal if untreated. Precise diagnosis allows correct treatment and follow up.PMID:37352919 | DOI:10...
Source: Annales d'Endocrinologie - June 23, 2023 Category: Endocrinology Authors: Natividad Pons Ana Moriano Bel én Taberner Andr és Tarragon Eva D íez Ÿngel Zuñiga Cabrera Source Type: research
Empirical and Mechanistic Modeling of Release Kinetics of Heavy Metals and Their Chemical Distribution in the Rhizosphere and Non-rhizosphere Soils Under Vegetable Cultivation
Arch Environ Contam Toxicol. 2023 Apr 21. doi: 10.1007/s00244-023-00996-1. Online ahead of print.ABSTRACTBiochemical processes in the rhizosphere affect the availability and distribution of heavy metals (HMs) in various forms. Rhizosphere soil (RS) and non-rhizosphere soil (NRS) samples were collected from 10 fields under tarragon (Artemisia dracunculus L.) cultivation to investigate the release kinetics and distribution of HMs including cadmium (Cd), cobalt (Co), copper (Cu), iron (Fe), and zinc (Zn) in five fractions. The cumulative amounts of Cu and Fe released after 88 h were in the following ranges, respectively: 1.31...
Source: Archives of Environmental Contamination and Toxicology - April 21, 2023 Category: Environmental Health Authors: Rosa Fakhri Mohsen Jalali Faranak Ranjbar Source Type: research
Empirical and Mechanistic Modeling of Release Kinetics of Heavy Metals and Their Chemical Distribution in the Rhizosphere and Non-rhizosphere Soils Under Vegetable Cultivation
Arch Environ Contam Toxicol. 2023 Apr 21. doi: 10.1007/s00244-023-00996-1. Online ahead of print.ABSTRACTBiochemical processes in the rhizosphere affect the availability and distribution of heavy metals (HMs) in various forms. Rhizosphere soil (RS) and non-rhizosphere soil (NRS) samples were collected from 10 fields under tarragon (Artemisia dracunculus L.) cultivation to investigate the release kinetics and distribution of HMs including cadmium (Cd), cobalt (Co), copper (Cu), iron (Fe), and zinc (Zn) in five fractions. The cumulative amounts of Cu and Fe released after 88 h were in the following ranges, respectively: 1.31...
Source: Archives of Environmental Contamination and Toxicology - April 21, 2023 Category: Environmental Health Authors: Rosa Fakhri Mohsen Jalali Faranak Ranjbar Source Type: research
Empirical and Mechanistic Modeling of Release Kinetics of Heavy Metals and Their Chemical Distribution in the Rhizosphere and Non-rhizosphere Soils Under Vegetable Cultivation
Arch Environ Contam Toxicol. 2023 Apr 21. doi: 10.1007/s00244-023-00996-1. Online ahead of print.ABSTRACTBiochemical processes in the rhizosphere affect the availability and distribution of heavy metals (HMs) in various forms. Rhizosphere soil (RS) and non-rhizosphere soil (NRS) samples were collected from 10 fields under tarragon (Artemisia dracunculus L.) cultivation to investigate the release kinetics and distribution of HMs including cadmium (Cd), cobalt (Co), copper (Cu), iron (Fe), and zinc (Zn) in five fractions. The cumulative amounts of Cu and Fe released after 88 h were in the following ranges, respectively: 1.31...
Source: Archives of Environmental Contamination and Toxicology - April 21, 2023 Category: Environmental Health Authors: Rosa Fakhri Mohsen Jalali Faranak Ranjbar Source Type: research
FEMA GRAS assessment of derivatives of basil, nutmeg, parsley, tarragon and related allylalkoxybenzene-containing natural flavor complexes
Food Chem Toxicol. 2023 Feb 16:113646. doi: 10.1016/j.fct.2023.113646. Online ahead of print.ABSTRACTIn 2015, the Expert Panel of the Flavor and Extract Manufacturers Association (FEMA) initiated a program for the re-evaluation of the safety of over 250 natural flavor complexes (NFCs) used as flavoring ingredients in food. In this publication, ninth in the series, NFCs containing a high percentage of least one naturally occurring allylalkoxybenzene constituent with a suspected concern for genotoxicity and/or carcinogenicity are evaluated. In a related paper, tenth in the series, NFCs containing anethole and/or eugenol and ...
Source: Food and Chemical Toxicology - February 22, 2023 Category: Food Science Authors: Jeanne M Davidsen Samuel M Cohen Gerhard Eisenbrand Shoji Fukushima Nigel J Gooderham F Peter Guengerich Stephen S Hecht Ivonne M C M Rietjens Thomas J Rosol Christie L Harman Sean V Taylor Source Type: research
FEMA GRAS assessment of derivatives of basil, nutmeg, parsley, tarragon and related allylalkoxybenzene-containing natural flavor complexes
Food Chem Toxicol. 2023 Feb 16:113646. doi: 10.1016/j.fct.2023.113646. Online ahead of print.ABSTRACTIn 2015, the Expert Panel of the Flavor and Extract Manufacturers Association (FEMA) initiated a program for the re-evaluation of the safety of over 250 natural flavor complexes (NFCs) used as flavoring ingredients in food. In this publication, ninth in the series, NFCs containing a high percentage of least one naturally occurring allylalkoxybenzene constituent with a suspected concern for genotoxicity and/or carcinogenicity are evaluated. In a related paper, tenth in the series, NFCs containing anethole and/or eugenol and ...
Source: Food and Chemical Toxicology - February 22, 2023 Category: Food Science Authors: Jeanne M Davidsen Samuel M Cohen Gerhard Eisenbrand Shoji Fukushima Nigel J Gooderham F Peter Guengerich Stephen S Hecht Ivonne M C M Rietjens Thomas J Rosol Christie L Harman Sean V Taylor Source Type: research
FEMA GRAS assessment of derivatives of basil, nutmeg, parsley, tarragon and related allylalkoxybenzene-containing natural flavor complexes
Food Chem Toxicol. 2023 Feb 16:113646. doi: 10.1016/j.fct.2023.113646. Online ahead of print.ABSTRACTIn 2015, the Expert Panel of the Flavor and Extract Manufacturers Association (FEMA) initiated a program for the re-evaluation of the safety of over 250 natural flavor complexes (NFCs) used as flavoring ingredients in food. In this publication, ninth in the series, NFCs containing a high percentage of least one naturally occurring allylalkoxybenzene constituent with a suspected concern for genotoxicity and/or carcinogenicity are evaluated. In a related paper, tenth in the series, NFCs containing anethole and/or eugenol and ...
Source: Food and Chemical Toxicology - February 22, 2023 Category: Food Science Authors: Jeanne M Davidsen Samuel M Cohen Gerhard Eisenbrand Shoji Fukushima Nigel J Gooderham F Peter Guengerich Stephen S Hecht Ivonne M C M Rietjens Thomas J Rosol Christie L Harman Sean V Taylor Source Type: research
Inhibitory activity of aromatic plant extracts against dairy-related Clostridium species and their use to prevent the late blowing defect of cheese
Food Microbiol. 2023 Apr;110:104185. doi: 10.1016/j.fm.2022.104185. Epub 2022 Nov 7.ABSTRACTThe aim of the present work was the selection of aromatic plant essential oils (EOs) and/or ethanolic extracts (EEs) to prevent the late blowing defect (LBD) of cheese caused by Clostridium spp. EEs resulted more effective than EOs to inhibit dairy-borne Clostridium spp. in vitro. Savory, hyssop, lavender and tarragon EEs, which showed the lowest minimal inhibitory concentration against Clostridium tyrobutyricum, were selected to study the prevention of LBD caused by this bacterium in cheese. Addition of savory and lavender EEs to c...
Source: Food Microbiology - December 3, 2022 Category: Food Science Authors: Marta Ávila Javier Calzada Nuria Mu ñoz-Tébar Carmen S ánchez Gonzalo Ortiz de Elguea-Culebras Manuel Carmona Ana Molina M Isabel Berruga Sonia Garde Source Type: research
Inhibitory activity of aromatic plant extracts against dairy-related Clostridium species and their use to prevent the late blowing defect of cheese
Food Microbiol. 2023 Apr;110:104185. doi: 10.1016/j.fm.2022.104185. Epub 2022 Nov 7.ABSTRACTThe aim of the present work was the selection of aromatic plant essential oils (EOs) and/or ethanolic extracts (EEs) to prevent the late blowing defect (LBD) of cheese caused by Clostridium spp. EEs resulted more effective than EOs to inhibit dairy-borne Clostridium spp. in vitro. Savory, hyssop, lavender and tarragon EEs, which showed the lowest minimal inhibitory concentration against Clostridium tyrobutyricum, were selected to study the prevention of LBD caused by this bacterium in cheese. Addition of savory and lavender EEs to c...
Source: Food Microbiology - December 3, 2022 Category: Food Science Authors: Marta Ávila Javier Calzada Nuria Mu ñoz-Tébar Carmen S ánchez Gonzalo Ortiz de Elguea-Culebras Manuel Carmona Ana Molina M Isabel Berruga Sonia Garde Source Type: research
Inhibitory activity of aromatic plant extracts against dairy-related Clostridium species and their use to prevent the late blowing defect of cheese
Food Microbiol. 2023 Apr;110:104185. doi: 10.1016/j.fm.2022.104185. Epub 2022 Nov 7.ABSTRACTThe aim of the present work was the selection of aromatic plant essential oils (EOs) and/or ethanolic extracts (EEs) to prevent the late blowing defect (LBD) of cheese caused by Clostridium spp. EEs resulted more effective than EOs to inhibit dairy-borne Clostridium spp. in vitro. Savory, hyssop, lavender and tarragon EEs, which showed the lowest minimal inhibitory concentration against Clostridium tyrobutyricum, were selected to study the prevention of LBD caused by this bacterium in cheese. Addition of savory and lavender EEs to c...
Source: Food Microbiology - December 3, 2022 Category: Food Science Authors: Marta Ávila Javier Calzada Nuria Mu ñoz-Tébar Carmen S ánchez Gonzalo Ortiz de Elguea-Culebras Manuel Carmona Ana Molina M Isabel Berruga Sonia Garde Source Type: research
Inhibitory activity of aromatic plant extracts against dairy-related Clostridium species and their use to prevent the late blowing defect of cheese
Food Microbiol. 2023 Apr;110:104185. doi: 10.1016/j.fm.2022.104185. Epub 2022 Nov 7.ABSTRACTThe aim of the present work was the selection of aromatic plant essential oils (EOs) and/or ethanolic extracts (EEs) to prevent the late blowing defect (LBD) of cheese caused by Clostridium spp. EEs resulted more effective than EOs to inhibit dairy-borne Clostridium spp. in vitro. Savory, hyssop, lavender and tarragon EEs, which showed the lowest minimal inhibitory concentration against Clostridium tyrobutyricum, were selected to study the prevention of LBD caused by this bacterium in cheese. Addition of savory and lavender EEs to c...
Source: Food Microbiology - December 3, 2022 Category: Food Science Authors: Marta Ávila Javier Calzada Nuria Mu ñoz-Tébar Carmen S ánchez Gonzalo Ortiz de Elguea-Culebras Manuel Carmona Ana Molina M Isabel Berruga Sonia Garde Source Type: research
Inhibitory activity of aromatic plant extracts against dairy-related Clostridium species and their use to prevent the late blowing defect of cheese
Food Microbiol. 2023 Apr;110:104185. doi: 10.1016/j.fm.2022.104185. Epub 2022 Nov 7.ABSTRACTThe aim of the present work was the selection of aromatic plant essential oils (EOs) and/or ethanolic extracts (EEs) to prevent the late blowing defect (LBD) of cheese caused by Clostridium spp. EEs resulted more effective than EOs to inhibit dairy-borne Clostridium spp. in vitro. Savory, hyssop, lavender and tarragon EEs, which showed the lowest minimal inhibitory concentration against Clostridium tyrobutyricum, were selected to study the prevention of LBD caused by this bacterium in cheese. Addition of savory and lavender EEs to c...
Source: Food Microbiology - December 3, 2022 Category: Food Science Authors: Marta Ávila Javier Calzada Nuria Mu ñoz-Tébar Carmen S ánchez Gonzalo Ortiz de Elguea-Culebras Manuel Carmona Ana Molina M Isabel Berruga Sonia Garde Source Type: research
