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  1. Article: Case report: Long term response to growth hormone in a child with Silver-Russell syndrome-like phenotype due to a novel paternally inherited IGF2 variant.

    Ventresca, Silvia / Lepri, Francesca Romana / Criscuolo, Sabrina / Bottaro, Giorgia / Novelli, Antonio / Loche, Sandro / Cappa, Marco

    Frontiers in endocrinology

    2024  Volume 15, Page(s) 1364234

    Abstract: Silver-Russell syndrome (SRS, OMIM, 180860) is a rare genetic disorder with a wide spectrum of symptoms. The most common features are intrauterine growth retardation (IUGR), poor postnatal development, macrocephaly, triangular face, prominent forehead, ... ...

    Abstract Silver-Russell syndrome (SRS, OMIM, 180860) is a rare genetic disorder with a wide spectrum of symptoms. The most common features are intrauterine growth retardation (IUGR), poor postnatal development, macrocephaly, triangular face, prominent forehead, body asymmetry, and feeding problems. The diagnosis of SRS is based on a combination of clinical features. Up to 60% of SRS patients have chromosome 7 or 11 abnormalities, and <1% show abnormalities in IGF2 signaling pathway genes (
    MeSH term(s) Child ; Female ; Humans ; Silver-Russell Syndrome/drug therapy ; Silver-Russell Syndrome/genetics ; Silver-Russell Syndrome/diagnosis ; Growth Hormone/genetics ; Paternal Inheritance ; Phenotype ; Human Growth Hormone/therapeutic use ; Human Growth Hormone/genetics ; Fetal Growth Retardation/genetics ; Insulin-Like Growth Factor II/genetics
    Chemical Substances Growth Hormone (9002-72-6) ; Human Growth Hormone (12629-01-5) ; IGF2 protein, human ; Insulin-Like Growth Factor II (67763-97-7)
    Language English
    Publishing date 2024-03-26
    Publishing country Switzerland
    Document type Case Reports
    ZDB-ID 2592084-4
    ISSN 1664-2392
    ISSN 1664-2392
    DOI 10.3389/fendo.2024.1364234
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: Hypoglycaemia Metabolic Gene Panel Testing.

    Maiorana, Arianna / Lepri, Francesca Romana / Novelli, Antonio / Dionisi-Vici, Carlo

    Frontiers in endocrinology

    2022  Volume 13, Page(s) 826167

    Abstract: A large number of inborn errors of metabolism present with hypoglycemia. Impairment of glucose homeostasis may arise from different biochemical pathways involving insulin secretion, fatty acid oxidation, ketone bodies formation and degradation, glycogen ... ...

    Abstract A large number of inborn errors of metabolism present with hypoglycemia. Impairment of glucose homeostasis may arise from different biochemical pathways involving insulin secretion, fatty acid oxidation, ketone bodies formation and degradation, glycogen metabolism, fructose and galactose metabolism, branched chain aminoacids and tyrosine metabolism, mitochondrial function and glycosylation proteins mechanisms. Historically, genetic analysis consisted of highly detailed molecular testing of nominated single genes. However, more recently, the genetic heterogeneity of these conditions imposed to perform extensive molecular testing within a useful timeframe
    MeSH term(s) Female ; Genetic Testing/methods ; Humans ; Hypoglycemia/diagnosis ; Hypoglycemia/genetics ; Molecular Diagnostic Techniques ; Phenotype ; Pregnancy
    Language English
    Publishing date 2022-03-29
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2592084-4
    ISSN 1664-2392
    ISSN 1664-2392
    DOI 10.3389/fendo.2022.826167
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Father-to-daughter transmission in late-onset OTC deficiency: an underestimated mechanism of inheritance of an X-linked disease.

    Siri, Barbara / Olivieri, Giorgia / Lepri, Francesca Romana / Poms, Martin / Goffredo, Bianca Maria / Commone, Anna / Novelli, Antonio / Häberle, Johannes / Dionisi-Vici, Carlo

    Orphanet journal of rare diseases

    2024  Volume 19, Issue 1, Page(s) 3

    Abstract: Background: Ornithine Transcarbamylase Deficiency (OTCD) is an X-linked urea cycle disorder characterized by acute hyperammonemic episodes. Hemizygous males are usually affected by a severe/fatal neonatal-onset form or, less frequently, by a late-onset ... ...

    Abstract Background: Ornithine Transcarbamylase Deficiency (OTCD) is an X-linked urea cycle disorder characterized by acute hyperammonemic episodes. Hemizygous males are usually affected by a severe/fatal neonatal-onset form or, less frequently, by a late-onset form with milder disease course, depending on the residual enzymatic activity. Hyperammonemia can occur any time during life and patients could remain non- or mis-diagnosed due to unspecific symptoms. In heterozygous females, clinical presentation varies based on the extent of X chromosome inactivation. Maternal transmission in X-linked disease is the rule, but in late-onset OTCD, due to the milder phenotype of affected males, paternal transmission to the females is possible. So far, father-to-daughter transmission of OTCD has been reported only in 4 Japanese families.
    Results: We identified in 2 Caucasian families, paternal transmission of late-onset OTCD with severe/fatal outcome in affected males and 1 heterozygous female. Furthermore, we have reassessed the pedigrees of other published reports in 7 additional families with evidence of father-to-daughter inheritance of OTCD, identifying and listing the family members for which this transmission occurred.
    Conclusions: Our study highlights how the diagnosis and pedigree analysis of late-onset OTCD may represent a real challenge for clinicians. Therefore, the occurrence of paternal transmission in OTCD should not be underestimated, due to the relevant implications for disease inheritance and risk of recurrence.
    MeSH term(s) Male ; Infant, Newborn ; Humans ; Female ; Ornithine Carbamoyltransferase Deficiency Disease/genetics ; Ornithine Carbamoyltransferase Deficiency Disease/diagnosis ; Nuclear Family ; Hyperammonemia/genetics ; Heterozygote ; Fathers ; Ornithine Carbamoyltransferase/genetics
    Chemical Substances Ornithine Carbamoyltransferase (EC 2.1.3.3)
    Language English
    Publishing date 2024-01-02
    Publishing country England
    Document type Journal Article
    ZDB-ID 2225857-7
    ISSN 1750-1172 ; 1750-1172
    ISSN (online) 1750-1172
    ISSN 1750-1172
    DOI 10.1186/s13023-023-02997-8
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article: Fetal First-trimester Cystic Hygroma as the Prenatal Presenting Feature of ASCC1-Related Spinal Muscular Atrophy with Bone Fractures 2.

    Guadagnolo, Daniele / Mastromoro, Gioia / Hashemian, Nader Khaleghi / Orlando, Valeria / Lepri, Francesca Romana / D'Alberti, Elena / Giancotti, Antonella / Novelli, Antonio / Pizzuti, Antonio

    Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC

    2023  Volume 45, Issue 8, Page(s) 558–559

    MeSH term(s) Pregnancy ; Female ; Humans ; Lymphangioma, Cystic/diagnostic imaging ; Pregnancy Trimester, First ; Muscular Atrophy, Spinal ; Fractures, Bone ; Ultrasonography, Prenatal ; Carrier Proteins
    Chemical Substances ASCC1 protein, human ; Carrier Proteins
    Language English
    Publishing date 2023-05-17
    Publishing country Netherlands
    Document type Letter
    ZDB-ID 2171082-X
    ISSN 1701-2163
    ISSN 1701-2163
    DOI 10.1016/j.jogc.2023.05.004
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 6445: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)

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  5. Article ; Online: Father-to-daughter transmission in late-onset OTC deficiency

    Barbara Siri / Giorgia Olivieri / Francesca Romana Lepri / Martin Poms / Bianca Maria Goffredo / Anna Commone / Antonio Novelli / Johannes Häberle / Carlo Dionisi-Vici

    Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-

    an underestimated mechanism of inheritance of an X-linked disease

    2024  Volume 8

    Abstract: Abstract Background Ornithine Transcarbamylase Deficiency (OTCD) is an X-linked urea cycle disorder characterized by acute hyperammonemic episodes. Hemizygous males are usually affected by a severe/fatal neonatal-onset form or, less frequently, by a late- ...

    Abstract Abstract Background Ornithine Transcarbamylase Deficiency (OTCD) is an X-linked urea cycle disorder characterized by acute hyperammonemic episodes. Hemizygous males are usually affected by a severe/fatal neonatal-onset form or, less frequently, by a late-onset form with milder disease course, depending on the residual enzymatic activity. Hyperammonemia can occur any time during life and patients could remain non- or mis-diagnosed due to unspecific symptoms. In heterozygous females, clinical presentation varies based on the extent of X chromosome inactivation. Maternal transmission in X-linked disease is the rule, but in late-onset OTCD, due to the milder phenotype of affected males, paternal transmission to the females is possible. So far, father-to-daughter transmission of OTCD has been reported only in 4 Japanese families. Results We identified in 2 Caucasian families, paternal transmission of late-onset OTCD with severe/fatal outcome in affected males and 1 heterozygous female. Furthermore, we have reassessed the pedigrees of other published reports in 7 additional families with evidence of father-to-daughter inheritance of OTCD, identifying and listing the family members for which this transmission occurred. Conclusions Our study highlights how the diagnosis and pedigree analysis of late-onset OTCD may represent a real challenge for clinicians. Therefore, the occurrence of paternal transmission in OTCD should not be underestimated, due to the relevant implications for disease inheritance and risk of recurrence.
    Keywords Ornithine transcarbamylase deficiency (OTCD) ; X-Linked ; Father-to-daughter transmission ; Hyperammonemia ; Medicine ; R
    Subject code 610 ; 590
    Language English
    Publishing date 2024-01-01T00:00:00Z
    Publisher BMC
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  6. Article ; Online: Deep Intronic LINE-1 Insertions in

    Alesi, Viola / Genovese, Silvia / Lepri, Francesca Romana / Catino, Giorgia / Loddo, Sara / Orlando, Valeria / Di Tommaso, Silvia / Morgia, Alessandra / Martucci, Licia / Di Donato, Maddalena / Digilio, Maria Cristina / Dallapiccola, Bruno / Novelli, Antonio / Capolino, Rossella

    Biomolecules

    2023  Volume 13, Issue 5

    Abstract: Neurofibromatosis type 1 is an autosomal-dominant condition caused ... ...

    Abstract Neurofibromatosis type 1 is an autosomal-dominant condition caused by
    MeSH term(s) Pregnancy ; Female ; Humans ; Neurofibromatosis 1/genetics ; Neurofibromatosis 1/diagnosis ; Introns/genetics ; DNA, Complementary ; Long Interspersed Nucleotide Elements/genetics ; Mutation
    Chemical Substances DNA, Complementary
    Language English
    Publishing date 2023-04-23
    Publishing country Switzerland
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2701262-1
    ISSN 2218-273X ; 2218-273X
    ISSN (online) 2218-273X
    ISSN 2218-273X
    DOI 10.3390/biom13050725
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article: Case report: Neonatal-onset inflammatory bowel disease due to novel compound heterozygous mutations in

    Finocchi, Andrea / Pacillo, Lucia / Chiriaco, Maria / Di Matteo, Gigliola / Francalanci, Paola / Angelino, Giulia / Caldaro, Tamara / Rivalta, Beatrice / O'Mara, Maurice / Zhang, Suisheng / Lepri, Francesca Romana / Novelli, Antonio / De Angelis, Paola / Knaus, Ulla G / Rea, Francesca

    Frontiers in genetics

    2023  Volume 14, Page(s) 1276697

    Abstract: Very Early Onset Inflammatory Bowel Disease (VEO-IBD) is potentially associated with genetic disorders of the intestinal epithelial barrier or inborn errors of immunity (IEI). Dual oxidase 2 (DUOX2), an ... ...

    Abstract Very Early Onset Inflammatory Bowel Disease (VEO-IBD) is potentially associated with genetic disorders of the intestinal epithelial barrier or inborn errors of immunity (IEI). Dual oxidase 2 (DUOX2), an H
    Language English
    Publishing date 2023-11-23
    Publishing country Switzerland
    Document type Case Reports
    ZDB-ID 2606823-0
    ISSN 1664-8021
    ISSN 1664-8021
    DOI 10.3389/fgene.2023.1276697
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: Prenatal Clinical Findings in

    Coccia, Emanuele / Valeri, Lara / Zuntini, Roberta / Caraffi, Stefano Giuseppe / Peluso, Francesca / Pagliai, Luca / Vezzani, Antonietta / Pietrangiolillo, Zaira / Leo, Francesco / Melli, Nives / Fiorini, Valentina / Greco, Andrea / Lepri, Francesca Romana / Pisaneschi, Elisa / Marozza, Annabella / Carli, Diana / Mussa, Alessandro / Radio, Francesca Clementina / Conti, Beatrice /
    Iascone, Maria / Gargano, Giancarlo / Novelli, Antonio / Tartaglia, Marco / Zuffardi, Orsetta / Bedeschi, Maria Francesca / Garavelli, Livia

    Genes

    2023  Volume 14, Issue 3

    Abstract: Pathogenic variants ... ...

    Abstract Pathogenic variants in
    MeSH term(s) Female ; Humans ; Infant, Newborn ; Child ; Pregnancy ; Mutation ; p120 GTPase Activating Protein/genetics ; Port-Wine Stain/genetics ; Port-Wine Stain/diagnosis ; Port-Wine Stain/pathology ; Arteriovenous Malformations/diagnostic imaging ; Arteriovenous Malformations/genetics ; GTPase-Activating Proteins/genetics
    Chemical Substances p120 GTPase Activating Protein ; GTPase-Activating Proteins ; RASA1 protein, human
    Language English
    Publishing date 2023-02-22
    Publishing country Switzerland
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2527218-4
    ISSN 2073-4425 ; 2073-4425
    ISSN (online) 2073-4425
    ISSN 2073-4425
    DOI 10.3390/genes14030549
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  9. Article ; Online: The Expanding Phenotype of ZTTK Syndrome Due to the Heterozygous Variant of

    Pietrobattista, Andrea / Della Volpe, Luca / Francalanci, Paola / Figà Talamanca, Lorenzo / Monti, Lidia / Lepri, Francesca Romana / Basso, Maria Sole / Liccardo, Daniela / Della Corte, Claudia / Mosca, Antonella / Alterio, Tommaso / Veraldi, Silvio / Callea, Francesco / Novelli, Antonio / Maggiore, Giuseppe

    Genes

    2023  Volume 14, Issue 3

    Abstract: Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome, an intellectual disability syndrome first described in 2016, is caused by heterozygous loss-of-function variants ... ...

    Abstract Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome, an intellectual disability syndrome first described in 2016, is caused by heterozygous loss-of-function variants in
    MeSH term(s) Humans ; Intellectual Disability/pathology ; Phenotype ; Syndrome ; Eye Diseases ; Liver/pathology
    Language English
    Publishing date 2023-03-17
    Publishing country Switzerland
    Document type Review ; Case Reports
    ZDB-ID 2527218-4
    ISSN 2073-4425 ; 2073-4425
    ISSN (online) 2073-4425
    ISSN 2073-4425
    DOI 10.3390/genes14030739
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  10. Article: Combined isobutyryl-CoA and multiple acyl-CoA dehydrogenase deficiency in a boy with altered riboflavin homeostasis.

    Tummolo, Albina / Leone, Piero / Tolomeo, Maria / Solito, Rita / Mattiuzzo, Matteo / Lepri, Francesca Romana / Lorè, Tania / Cardinali, Roberta / De Giovanni, Donatella / Simonetti, Simonetta / Barile, Maria

    JIMD reports

    2022  Volume 63, Issue 4, Page(s) 276–291

    Abstract: In this report, we describe the case of an 11-year-old boy, who came to our attention for myalgia and muscle weakness, associated with inappetence and vomiting. Hypertransaminasemia was also noted, with ultrasound evidence of hepatomegaly. Biochemical ... ...

    Abstract In this report, we describe the case of an 11-year-old boy, who came to our attention for myalgia and muscle weakness, associated with inappetence and vomiting. Hypertransaminasemia was also noted, with ultrasound evidence of hepatomegaly. Biochemical investigations revealed acylcarnitine and organic acid profiles resembling those seen in MADD, that is, multiple acyl-CoA dehydrogenase deficiencies (OMIM #231680) a rare inherited disorder of fatty acids, amino acids, and choline metabolism. The patient carried a single pathogenetic variant in the
    Language English
    Publishing date 2022-05-07
    Publishing country United States
    Document type Case Reports
    ZDB-ID 2672872-2
    ISSN 2192-8312 ; 2192-8304
    ISSN (online) 2192-8312
    ISSN 2192-8304
    DOI 10.1002/jmd2.12292
    Database MEDical Literature Analysis and Retrieval System OnLINE

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