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Article ; Online: Investigating ultrastructural morphology in MIRAGE syndrome-derived fibroblasts using transmission electron microscopy.

Buonocore, Federica / Balys, Monika / Anderson, Glenn / Achermann, John C

2024 Volume 12, Page(s) 155

Abstract: Background: Heterozygous : Methods: We have performed an observational study using transmission electron microscopy (TEM) in a larger number of cells derived from three patients' fibroblasts to assess ultrastructure morphology compared to control ... ...

Abstract	Background: Heterozygous Methods: We have performed an observational study using transmission electron microscopy (TEM) in a larger number of cells derived from three patients' fibroblasts to assess ultrastructure morphology compared to control images. Results: Consistent changes were observed in cell organelles in all patient samples. In particular, increased endosomal activity was detected, characterised by augmented pinocytosis and vesicle budding, increased endosome number, as well as by large lysosomes and endosomes. Endoplasmic reticulum was also prominent. Mitochondria appeared enlarged in selected cells, possibly due to cellular stress. Cell nuclei did not display major differences compared to controls. Conclusions: TEM is a powerful tool to investigate morphological features of tissues and cell organelles, although TEM data could be affected by sample preparation methodology, therefore potentially explaining the variability between independent studies, and its analysis can be dependent on the experience of the researcher. The increased endosomal activity we have observed in patients' fibroblasts could indicate that SAMD9 regulates endocytosis of receptors, acting as an endosome fusion facilitator, or in lysosomal activation. However, the precise mechanism(s) by which SAMD9 regulates cell growth is still not fully understood, and further studies are needed to elucidate its pathogenic pathway and develop therapeutic approaches to support patients.
MeSH term(s)	Humans ; Fibroblasts ; Cell Nucleus ; Endocytosis ; Lysosomes ; Cell Cycle ; Intracellular Signaling Peptides and Proteins
Chemical Substances	SAMD9 protein, human ; Intracellular Signaling Peptides and Proteins
Language	English
Publishing date	2024-02-13
Publishing country	England
Document type	Observational Study ; Journal Article
ZDB-ID	2699932-8
ISSN	2046-1402 ; 2046-1402
ISSN (online)	2046-1402
ISSN	2046-1402
DOI	10.12688/f1000research.129559.2
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Article: Impact of COVID-19 lockdown on the perception of home meals and meal-related variables: A large-scale study within the Italian population during the acute phase of the pandemic

Piochi, Maria / Buonocore, Federica / Spampani, Francesco / Torri, Luisa

Food quality and preference. 2022 June, v. 98

2022

Abstract: Italy was the first European country struck by the COVID-19 epidemic and experienced a national lockdown. This study explored the effect of lockdown on the perception of any meals prepared and/or conducted at home (home meals) and investigated which ... ...

Abstract	Italy was the first European country struck by the COVID-19 epidemic and experienced a national lockdown. This study explored the effect of lockdown on the perception of any meals prepared and/or conducted at home (home meals) and investigated which variables played a role in this. A group of Italians (n = 3,060) not suspected/diagnosed as having COVID-19 (18–91 years old; 33% males) completed an online survey during the first lockdown (April 2020). Liking for home meals either increased (51% of the population) or did not vary (43%), while it decreased for only 6% of respondents. Total meal intake similarly either increased (51%) or remained unchanged (33%). Core variables describing meal perception (Liking for meal, Pleasure in meal preparation, Meal duration, Meal Time, Overall food intake, Snack intake) were positively associated with each other. Two clusters with different perceptions of home meals were found, characterised by an increased appreciation (Cl1, 61%) and an unchanged appreciation (Cl2, 39%), respectively. In the acute phase of lockdown, increased meal pleasure was associated with home togetherness (not living alone), cooking with others more often, having high cooking dynamism (use of different kitchen tools, engaging in online food-related activities like using online recipe/website for cooking, use of ready-to-eat meal delivery), and being young, a student or a worker (Cl1). Conversely, Cl2 showed an unchanged meal pleasure, and it was mostly associated with living alone (before and during lockdown), being elderly, retired, widowed, having a low degree of cooking-related activities and dedicating a small weekly budget to food. Variables strictly describing the meal were discussed. Lockdown did not homogenously affect the population in terms of meal pleasure, and high enjoyment of meals was related to high meal involvement. Younger subjects seemed to be more resilient and appreciated meals more due to high cooking dynamism, food-related activities and togetherness. Public health policies could consider these outputs to set up interventions that use meal-dedication activities to increase meal pleasure in vulnerable targets or in subjects experiencing poorly appreciated diets in similar future stressful situations.
Keywords	COVID-19 infection ; Internet ; eating habits ; elderly ; food intake ; food quality ; pandemic ; ready-to-eat foods ; surveys ; Italy
Language	English
Dates of publication	2022-06
Publishing place	Elsevier Ltd
Document type	Article
ZDB-ID	1020221-3
ISSN	0950-3293
ISSN	0950-3293
DOI	10.1016/j.foodqual.2021.104488
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Article: Impact of COVID-19 lockdown on the perception of home meals and meal-related variables: A large-scale study within the Italian population during the acute phase of the pandemic.

Piochi, Maria / Buonocore, Federica / Spampani, Francesco / Torri, Luisa

Food quality and preference

2021 Volume 98, Page(s) 104488

Abstract	Italy was the first European country struck by the COVID-19 epidemic and experienced a national lockdown. This study explored the effect of lockdown on the perception of any meals prepared and/or conducted at home (home meals) and investigated which variables played a role in this. A group of Italians (n = 3,060) not suspected/diagnosed as having COVID-19 (18-91 years old; 33% males) completed an online survey during the first lockdown (April 2020). Liking for home meals either increased (51% of the population) or did not vary (43%), while it decreased for only 6% of respondents. Total meal intake similarly either increased (51%) or remained unchanged (33%). Core variables describing meal perception (Liking for meal, Pleasure in meal preparation, Meal duration, Meal Time, Overall food intake, Snack intake) were positively associated with each other. Two clusters with different perceptions of home meals were found, characterised by an increased appreciation (Cl1, 61%) and an unchanged appreciation (Cl2, 39%), respectively. In the acute phase of lockdown, increased meal pleasure was associated with home togetherness (not living alone), cooking with others more often, having high cooking dynamism (use of different kitchen tools, engaging in online food-related activities like using online recipe/website for cooking, use of ready-to-eat meal delivery), and being young, a student or a worker (Cl1). Conversely, Cl2 showed an unchanged meal pleasure, and it was mostly associated with living alone (before and during lockdown), being elderly, retired, widowed, having a low degree of cooking-related activities and dedicating a small weekly budget to food. Variables strictly describing the meal were discussed. Lockdown did not homogenously affect the population in terms of meal pleasure, and high enjoyment of meals was related to high meal involvement. Younger subjects seemed to be more resilient and appreciated meals more due to high cooking dynamism, food-related activities and togetherness. Public health policies could consider these outputs to set up interventions that use meal-dedication activities to increase meal pleasure in vulnerable targets or in subjects experiencing poorly appreciated diets in similar future stressful situations.
Language	English
Publishing date	2021-12-03
Publishing country	England
Document type	Journal Article
ZDB-ID	1020221-3
ISSN	0950-3293
ISSN	0950-3293
DOI	10.1016/j.foodqual.2021.104488
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Article ; Online: Primary adrenal insufficiency: New genetic causes and their long-term consequences.

Buonocore, Federica / Achermann, John C

Clinical endocrinology

2019 Volume 92, Issue 1, Page(s) 11–20

Abstract: Primary adrenal insufficiency (PAI) is a potentially life-threatening condition that requires urgent diagnosis and treatment. Whilst the most common causes are congenital adrenal hyperplasia (CAH) in childhood and autoimmune adrenal insufficiency in ... ...

Abstract	Primary adrenal insufficiency (PAI) is a potentially life-threatening condition that requires urgent diagnosis and treatment. Whilst the most common causes are congenital adrenal hyperplasia (CAH) in childhood and autoimmune adrenal insufficiency in adolescence and adulthood, more than 30 other physical and genetics cause of PAI have been reported. Reaching a specific diagnosis can have implications for management and for monitoring associated features, as well as for counselling families about recurrence risk in siblings and relatives. Here, we describe some recent insights into the genetics of adrenal insufficiency and associated molecular mechanisms. We discuss (a) the role of the nuclear receptors DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human adrenal and reproductive dysfunction; (b) multisystem growth restriction syndromes due to gain-of-function in the growth repressors CDKN1C (IMAGE syndrome) and SAMD9 (MIRAGE syndrome), or loss of POLE1; (c) nonclassic forms of STAR and P450scc/CYP11A1 insufficiency that present with a delayed-onset adrenal phenotype and represent a surprisingly prevalent cause of undiagnosed PAI; and (d) a new sphingolipidosis causing PAI due to defects in sphingosine-1-phosphate lyase-1 (SGPL1). Reaching a specific diagnosis can have life-long implications for management. In some situations, milder or nonclassic forms of these conditions can first present in adulthood and may have been labelled, "Addison's disease."
MeSH term(s)	Addison Disease/complications ; Addison Disease/diagnosis ; Addison Disease/genetics ; Humans
Language	English
Publishing date	2019-10-30
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	121745-8
ISSN	1365-2265 ; 0300-0664
ISSN (online)	1365-2265
ISSN	0300-0664
DOI	10.1111/cen.14109
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Article: Can Digenic, Tri-Allelic Inheritance of Variants in

Ali, Naseer / Maharaj, Avinaash Vickram / Buonocore, Federica / Achermann, John C / Metherell, Louise A

Frontiers in endocrinology

2022 Volume 13, Page(s) 860055

Abstract: An eight-year old South Asian boy presenting with progressive hyperpigmentation was found to have primary adrenal insufficiency (PAI) in the form of isolated glucocorticoid deficiency. Follow up of this boy for nine years, until the age of 17 years ... ...

Abstract	An eight-year old South Asian boy presenting with progressive hyperpigmentation was found to have primary adrenal insufficiency (PAI) in the form of isolated glucocorticoid deficiency. Follow up of this boy for nine years, until the age of 17 years showed normal pubertal onset and progression. Molecular evaluation, by targeted next generation sequencing of candidate genes linked to PAI revealed changes in two genes that are intricately linked in the early stages of steroid biosynthesis: compound heterozygous variants in
MeSH term(s)	Addison Disease/genetics ; Adolescent ; Adrenal Insufficiency/genetics ; Alleles ; Child ; Cholesterol Side-Chain Cleavage Enzyme/genetics ; Glucocorticoids ; Humans ; Male ; Phosphoproteins/genetics
Chemical Substances	Glucocorticoids ; Phosphoproteins ; steroidogenic acute regulatory protein ; Cholesterol Side-Chain Cleavage Enzyme (EC 1.14.15.6)
Language	English
Publishing date	2022-03-28
Publishing country	Switzerland
Document type	Case Reports ; Journal Article
ZDB-ID	2592084-4
ISSN	1664-2392
ISSN	1664-2392
DOI	10.3389/fendo.2022.860055
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Article ; Online: Human sex development: targeted technologies to improve diagnosis.

Buonocore, Federica / Achermann, John C

Genome biology

2016 Volume 17, Issue 1, Page(s) 257

Abstract: A new study of disorders of sex development presents an improved targeted next-generation sequencing approach for their diagnosis.Please see related Research article: http://genomebiology.biomedcentral.com/articles/10.1186/s13059-016-1105-y . ...

Abstract	A new study of disorders of sex development presents an improved targeted next-generation sequencing approach for their diagnosis.Please see related Research article: http://genomebiology.biomedcentral.com/articles/10.1186/s13059-016-1105-y .
MeSH term(s)	Disorders of Sex Development/genetics ; Disorders of Sex Development/pathology ; Female ; Genetic Testing ; Gonadal Dysgenesis/genetics ; Gonadal Dysgenesis/pathology ; High-Throughput Nucleotide Sequencing ; Humans ; Male ; Sex Determination Processes
Language	English
Publishing date	2016-12-15
Publishing country	England
Document type	Journal Article
ZDB-ID	2040529-7
ISSN	1474-760X ; 1465-6914 ; 1465-6906
ISSN (online)	1474-760X ; 1465-6914
ISSN	1465-6906
DOI	10.1186/s13059-016-1128-4
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Article: Human sex development: targeted technologies to improve diagnosis

Buonocore, Federica / Achermann, John C

Genome biology. 2016 Dec., v. 17, no. 1

2016

Abstract	A new study of disorders of sex development presents an improved targeted next-generation sequencing approach for their diagnosis.Please see related Research article: http://genomebiology.biomedcentral.com/articles/10.1186/s13059-016-1105-y .
Keywords	disease diagnosis ; genomics ; high-throughput nucleotide sequencing ; humans ; sexual development
Language	English
Dates of publication	2016-12
Size	p. 257.
Publishing place	BioMed Central
Document type	Article
ZDB-ID	2040529-7
ISSN	1474-760X ; 1465-6914 ; 1465-6906
ISSN (online)	1474-760X ; 1465-6914
ISSN	1465-6906
DOI	10.1186/s13059-016-1128-4
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Article ; Online: Insights From Long-term Follow-up of a Girl With Adrenal Insufficiency and Sphingosine-1-Phosphate Lyase Deficiency.

Maharaj, Avinaash / Güran, Tülay / Buonocore, Federica / Achermann, John C / Metherell, Louise / Prasad, Rathi / Çetinkaya, Semra

Journal of the Endocrine Society

2022 Volume 6, Issue 5, Page(s) bvac020

Abstract: Introduction: Sphingosine-1-phosphate lyase (SGPL1) insufficiency syndrome (SPLIS) is a multisystemic disorder which, in the main, incorporates steroid-resistant nephrotic syndrome and primary adrenal insufficiency (PAI).: Case presentation: We ... ...

Abstract	Introduction: Sphingosine-1-phosphate lyase (SGPL1) insufficiency syndrome (SPLIS) is a multisystemic disorder which, in the main, incorporates steroid-resistant nephrotic syndrome and primary adrenal insufficiency (PAI). Case presentation: We present a young girl with a novel homozygous variant in Conclusion: SGPL1 deficiency should be considered in the differential diagnosis of PAI with close attention paid to evolving disease on follow-up.
Language	English
Publishing date	2022-02-11
Publishing country	United States
Document type	Case Reports
ISSN	2472-1972
ISSN (online)	2472-1972
DOI	10.1210/jendso/bvac020
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Article ; Online: A conserved NR5A1-responsive enhancer regulates SRY in testis-determination.

Houzelstein, Denis / Eozenou, Caroline / Lagos, Carlos F / Elzaiat, Maëva / Bignon-Topalovic, Joelle / Gonzalez, Inma / Laville, Vincent / Schlick, Laurène / Wankanit, Somboon / Madon, Prochi / Kirtane, Jyotsna / Athalye, Arundhati / Buonocore, Federica / Bigou, Stéphanie / Conway, Gerard S / Bohl, Delphine / Achermann, John C / Bashamboo, Anu / McElreavey, Ken

Nature communications

2024 Volume 15, Issue 1, Page(s) 2796

Abstract: The Y-linked SRY gene initiates mammalian testis-determination. However, how the expression of SRY is regulated remains elusive. Here, we demonstrate that a conserved steroidogenic factor-1 (SF-1)/NR5A1 binding enhancer is required for appropriate SRY ... ...

Abstract	The Y-linked SRY gene initiates mammalian testis-determination. However, how the expression of SRY is regulated remains elusive. Here, we demonstrate that a conserved steroidogenic factor-1 (SF-1)/NR5A1 binding enhancer is required for appropriate SRY expression to initiate testis-determination in humans. Comparative sequence analysis of SRY 5' regions in mammals identified an evolutionary conserved SF-1/NR5A1-binding motif within a 250 bp region of open chromatin located 5 kilobases upstream of the SRY transcription start site. Genomic analysis of 46,XY individuals with disrupted testis-determination, including a large multigenerational family, identified unique single-base substitutions of highly conserved residues within the SF-1/NR5A1-binding element. In silico modelling and in vitro assays demonstrate the enhancer properties of the NR5A1 motif. Deletion of this hemizygous element by genome-editing, in a novel in vitro cellular model recapitulating human Sertoli cell formation, resulted in a significant reduction in expression of SRY. Therefore, human NR5A1 acts as a regulatory switch between testis and ovary development by upregulating SRY expression, a role that may predate the eutherian radiation. We show that disruption of an enhancer can phenocopy variants in the coding regions of SRY that cause human testis dysgenesis. Since disease causing variants in enhancers are currently rare, the regulation of gene expression in testis-determination offers a paradigm to define enhancer activity in a key developmental process.
MeSH term(s)	Animals ; Female ; Humans ; Male ; Cell Line ; Gonadal Dysgenesis ; Mammals/genetics ; Regulatory Sequences, Nucleic Acid ; Sertoli Cells/metabolism ; Sex-Determining Region Y Protein/genetics ; Steroidogenic Factor 1/genetics ; Steroidogenic Factor 1/metabolism ; Testis/metabolism
Chemical Substances	NR5A1 protein, human ; Sex-Determining Region Y Protein ; Steroidogenic Factor 1 ; SRY protein, human ; HTRA2 protein, human (EC 3.4.21.108)
Language	English
Publishing date	2024-03-30
Publishing country	England
Document type	Journal Article
ZDB-ID	2553671-0
ISSN	2041-1723 ; 2041-1723
ISSN (online)	2041-1723
ISSN	2041-1723
DOI	10.1038/s41467-024-47162-2
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Article: Current Insights Into Adrenal Insufficiency in the Newborn and Young Infant.

Buonocore, Federica / McGlacken-Byrne, Sinead M / Del Valle, Ignacio / Achermann, John C

Frontiers in pediatrics

2020 Volume 8, Page(s) 619041

Abstract: Adrenal insufficiency (AI) is a potentially life-threatening condition that can be difficult to diagnose, especially if it is not considered as a potential cause of a child's clinical presentation or unexpected deterioration. Children who present with AI ...

Abstract	Adrenal insufficiency (AI) is a potentially life-threatening condition that can be difficult to diagnose, especially if it is not considered as a potential cause of a child's clinical presentation or unexpected deterioration. Children who present with AI in early life can have signs of glucocorticoid deficiency (hyperpigmentation, hypoglycemia, prolonged jaundice, poor weight gain), mineralocorticoid deficiency (hypotension, salt loss, collapse), adrenal androgen excess (atypical genitalia), or associated features linked to a specific underlying condition. Here, we provide an overview of causes of childhood AI, with a focus on genetic conditions that present in the first few months of life. Reaching a specific diagnosis can have lifelong implications for focusing management in an individual, and for counseling the family about inheritance and the risk of recurrence.
Language	English
Publishing date	2020-12-14
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2711999-3
ISSN	2296-2360
ISSN	2296-2360
DOI	10.3389/fped.2020.619041
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