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Article ; Online: Phenylketonuria and the brain.

Rovelli, Valentina / Longo, Nicola

2023 Volume 139, Issue 1, Page(s) 107583

Abstract: Classic phenylketonuria (PKU) is caused by defective activity of phenylalanine hydroxylase (PAH), the enzyme that coverts phenylalanine (Phe) to tyrosine. Toxic accumulation of phenylalanine and its metabolites, left untreated, affects brain development ... ...

Abstract	Classic phenylketonuria (PKU) is caused by defective activity of phenylalanine hydroxylase (PAH), the enzyme that coverts phenylalanine (Phe) to tyrosine. Toxic accumulation of phenylalanine and its metabolites, left untreated, affects brain development and function depending on the timing of exposure to elevated levels. The specific mechanisms of Phe-induced brain damage are not completely understood, but they correlate to phenylalanine levels and on the stage of brain growth. During fetal life, high levels of phenylalanine such as those seen in maternal PKU can result in microcephaly, neuronal loss and corpus callosum hypoplasia. Elevated phenylalanine levels during the first few years of life can cause acquired microcephaly, severe cognitive impairment and epilepsy, likely due to the impairment of synaptogenesis. During late childhood, elevated phenylalanine can cause alterations in neurological functioning, leading to ADHD, speech delay and mild IQ reduction. In adolescents and adults, executive function and mood are affected, with some of the abnormalities reversed by better control of phenylalanine levels. Altered brain myelination can be present at this stage. In this article, we review the current knowledge about the consequences of high phenylalanine levels in PKU patients and animal models through different stages of brain development and its effect on cognitive, behavioural and neuropsychological function.
MeSH term(s)	Female ; Pregnancy ; Animals ; Child ; Humans ; Microcephaly ; Phenylketonurias/psychology ; Brain ; Phenylalanine Hydroxylase ; Phenylketonuria, Maternal ; Phenylalanine
Chemical Substances	Phenylalanine Hydroxylase (EC 1.14.16.1) ; Phenylalanine (47E5O17Y3R)
Language	English
Publishing date	2023-04-15
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	1418518-0
ISSN	1096-7206 ; 1096-7192
ISSN (online)	1096-7206
ISSN	1096-7192
DOI	10.1016/j.ymgme.2023.107583
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Article: Congenital Multiple Nevoid Hypertrichosis.

Lippolis, Nicola / Curti, Alex / Longo, Caterina / Di Lernia, Vito

Dermatology practical & conceptual

2023 Volume 13, Issue 2

Language	English
Publishing date	2023-04-01
Publishing country	Austria
Document type	Letter
ZDB-ID	2685397-8
ISSN	2160-9381
ISSN	2160-9381
DOI	10.5826/dpc.1302a91
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Article ; Online: The use of burosumab to treat autosomal-recessive hypophosphatemic rickets type 2: rationale and a first clinical experience.

Parolin, Mattia / Partigiani, Nicola Bertazza / Benetti, Elisa / Longo, Germana / Vidal, Enrico

Journal of nephrology

2024

Language	English
Publishing date	2024-02-03
Publishing country	Italy
Document type	Journal Article
ZDB-ID	1093991-x
ISSN	1724-6059 ; 1120-3625 ; 1121-8428
ISSN (online)	1724-6059
ISSN	1120-3625 ; 1121-8428
DOI	10.1007/s40620-023-01884-6
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Article ; Online: Primary Carnitine Deficiency and Newborn Screening for Disorders of the Carnitine Cycle.

Longo, Nicola

Annals of nutrition & metabolism

2016 Volume 68 Suppl 3, Page(s) 5–9

Abstract: Carnitine is needed for transfer of long-chain fatty acids across the inner mitochondrial membrane for subsequent β-oxidation. Carnitine can be synthesized by the body and is also obtained in the diet through consumption of meat and dairy products. ... ...

Abstract	Carnitine is needed for transfer of long-chain fatty acids across the inner mitochondrial membrane for subsequent β-oxidation. Carnitine can be synthesized by the body and is also obtained in the diet through consumption of meat and dairy products. Defects in carnitine transport such as those caused by defective activity of the OCTN2 transporter encoded by the SLC22A5 gene result in primary carnitine deficiency, and newborn screening programmes can identify patients at risk for this condition before irreversible damage. Initial biochemical diagnosis can be confirmed through molecular testing, although direct study of carnitine transport in fibroblasts is very useful to confirm or exclude primary carnitine deficiency in individuals with genetic variations of unknown clinical significance or who continue to have low levels of carnitine despite negative molecular analyses. Genetic defects in carnitine biosynthesis do not generally result in low plasma levels of carnitine. However, deletion of the trimethyllysine hydroxylase gene, a key gene in carnitine biosynthesis, has been associated with non-dysmorphic autism. Thus, new roles for carnitine are emerging that are unrelated to classic inborn errors of metabolism.
Language	English
Publishing date	2016
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	392341-1
ISSN	1421-9697 ; 0250-6807 ; 1018-9688
ISSN (online)	1421-9697
ISSN	0250-6807 ; 1018-9688
DOI	10.1159/000448321
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Article ; Online: How Teaching and Internship Influence the Evidence-Based Practice Approach of Nursing Students: A Longitudinal Study.

Longo, Donato / Gili, Alessio / Ramacciati, Noemi / Morcellini, Rosita / Ramacciati, Nicola

Florence Nightingale journal of nursing

2023 Volume 31, Issue 3, Page(s) 194–202

Abstract: Aim: The study aimed to analyze students' approach to evidence-based practice and evaluate the effect of teaching (based on lessons in statistics, epidemiology, evidence-based nursing, bioengineering, English language) and internship experiences on the ... ...

Abstract	Aim: The study aimed to analyze students' approach to evidence-based practice and evaluate the effect of teaching (based on lessons in statistics, epidemiology, evidence-based nursing, bioengineering, English language) and internship experiences on the attitude of nursing students to evidence-based practice. Method: In 2019,one hundred nineteen second-year nursing students from an Italian university were involved in a pre-post longitudinal study. The Italian version of the Student-Evidence Based Practice Questionnaire was administered to nursing student in four moments of one academic year. Results: The Student-Evidence Based Practice Questionnaire showed different mean scores based on the four moments of the survey with a significant increase after the experience of planning clinical cases with an online simulation system. In particular, the aptitude subscale does not have significant improvements in the various phases of the study. Conversely, the support of the clinical tutor affects student performance. The didactic module on evidence-based nursing develops the ability to assess the quality of the information found and its sharing. Basic English proficiency is not significantly correlated. Conclusion: To develop evidence-based practice knowledge, aptitude, and skills in nursing students, it is necessary to strengthen the learning opportunities both in classroom lessons and in simulation and internship experiences.
Language	English
Publishing date	2023-10-30
Publishing country	Turkey
Document type	Journal Article
ISSN	2687-6442
ISSN (online)	2687-6442
DOI	10.5152/FNJN.2023.22288
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Article ; Online: Conservative Management of Partial Thickness Rotator Cuff Tears: A Systematic Review.

Longo, Umile Giuseppe / Lalli, Alberto / Medina, Giovanna / Maffulli, Nicola

Sports medicine and arthroscopy review

2023 Volume 31, Issue 3, Page(s) 80–87

Abstract: Background: Conservative management has emerged as an attractive option for partial thickness rotator cuff tears (PT-RCTs). A single algorithmic treatment strategy for patients with symptomatic PT-RCT has not yet been developed. This systematic review ... ...

Abstract	Background: Conservative management has emerged as an attractive option for partial thickness rotator cuff tears (PT-RCTs). A single algorithmic treatment strategy for patients with symptomatic PT-RCT has not yet been developed. This systematic review aims to ascertain whether a conservative approach to PT-RCTs yields positive results in terms of clinical outcomes and functional recovery. Methods: This is a systematic review of the literature on patients with PT-RCTs receiving conservative treatment with physiotherapy, platelet-rich plasma (PRP) injections, collagen injections, hyaluronic acid (HA) injections, or corticosteroids injections coupled with polydeoxyribonucleotide (PDRN). Outcomes such as the Visual Analog Scale (VAS) for pain, American Shoulder and Elbow Surgeons and Constant-Murley Score evaluations, as well as the Shoulder Pain and Disability Index and Euro Quality of Life-5D questionnaires were reported following a conservative approach. Results: Eleven studies were included. Six articles explored the outcomes of patients with PT-RCT treated with PRP injections. Significant improvements in VAS for pain were observed. Two studies examined collagen injections and reported variations in VAS for pain and Constant-Murley Score. Sodium hyaluronate and HA injections were studied in two other articles, showing notable improvements in American Shoulder and Elbow Surgeons scores. Corticosteroid and PDRN injections also displayed favorable outcomes. In addition, physical therapy protocols demonstrated improvements in VAS for pain and strength, particularly with eccentric rehabilitation. Conclusions: Conservative management of PT-RCTs, involving physical therapy, PRP injections, collagen injections, corticosteroid injections, HA injections, and PDRN in jections, demonstrates favorable clinical outcomes. In addition, favorable results are observed in terms of decreased tear width and improved strength recovery, at least during a short-term follow-up. Unfortunately, long-term insight into the structural integrity of conservatively treated rotator cuff tendons following a partial injury has not been thoroughly evaluated yet. Study design levels of evidence: Level IV-systematic review.
MeSH term(s)	Humans ; Rotator Cuff Injuries/surgery ; Conservative Treatment ; Quality of Life ; Treatment Outcome ; Shoulder Pain ; Adrenal Cortex Hormones/therapeutic use ; Collagen ; Arthroscopy/methods
Chemical Substances	Adrenal Cortex Hormones ; Collagen (9007-34-5)
Language	English
Publishing date	2023-11-17
Publishing country	United States
Document type	Systematic Review ; Journal Article
ZDB-ID	1174179-x
ISSN	1538-1951 ; 1062-8592
ISSN (online)	1538-1951
ISSN	1062-8592
DOI	10.1097/JSA.0000000000000372
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Article: Intra-scrotal epidermoid cyst rupture misdiagnosed as a testicular prosthesis rupture: A case report.

Fraia, Agostino / Di Bello, Francesco / Pezone, Gabriele / Collà Ruvolo, Claudia / Califano, Gianluigi / Longo, Nicola

Urology case reports

2023 Volume 52, Page(s) 102639

Abstract: Testicular cancers represent about 5 % of all urological tumors. Most patients who undergo radical orchiectomy (RO) decide to place a testicular prosthesis, for a cosmetic result and to accept the testicular loss. Among all late complications, a ... ...

Abstract	Testicular cancers represent about 5 % of all urological tumors. Most patients who undergo radical orchiectomy (RO) decide to place a testicular prosthesis, for a cosmetic result and to accept the testicular loss. Among all late complications, a spontaneous prosthesis rupture is a rare event contrary to penile prosthesis. The present study reported the case of a 53-year-old Italian man has presented to our department principally for a suspicious rupture of testicular implant, placed twenty years before after a RO. Despite the findings at scrotal ultrasonography, at final histology, the mass was identified as spontaneously broken intra-scrotal epidermoid cyst.
Language	English
Publishing date	2023-12-18
Publishing country	United States
Document type	Case Reports
ZDB-ID	2745459-9
ISSN	2214-4420
ISSN	2214-4420
DOI	10.1016/j.eucr.2023.102639
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Article ; Online: Biomarkers for drug development in propionic and methylmalonic acidemias.

Longo, Nicola / Sass, Jörn Oliver / Jurecka, Agnieszka / Vockley, Jerry

Journal of inherited metabolic disease

2022 Volume 45, Issue 2, Page(s) 132–143

Abstract: There is an unmet need for the development and validation of biomarkers and surrogate endpoints for clinical trials in propionic acidemia (PA) and methylmalonic acidemia (MMA). This review examines the pathophysiology and clinical consequences of PA and ... ...

Abstract	There is an unmet need for the development and validation of biomarkers and surrogate endpoints for clinical trials in propionic acidemia (PA) and methylmalonic acidemia (MMA). This review examines the pathophysiology and clinical consequences of PA and MMA that could form the basis for potential biomarkers and surrogate endpoints. Changes in primary metabolites such as methylcitric acid (MCA), MCA:citric acid ratio, oxidation of
MeSH term(s)	Amino Acid Metabolism, Inborn Errors/complications ; Amino Acid Metabolism, Inborn Errors/diagnosis ; Amino Acid Metabolism, Inborn Errors/drug therapy ; Biomarkers ; Drug Development ; Humans ; Methylmalonic Acid ; Propionic Acidemia/complications ; Propionic Acidemia/diagnosis ; Propionic Acidemia/drug therapy
Chemical Substances	Biomarkers ; Methylmalonic Acid (8LL8S712J7)
Language	English
Publishing date	2022-01-26
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	438341-2
ISSN	1573-2665 ; 0141-8955
ISSN (online)	1573-2665
ISSN	0141-8955
DOI	10.1002/jimd.12478
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Article ; Online: Platypnea-Orthodeoxia Syndrome after SARS-CoV-2 interstitial pneumonia: an overview and an update on our patient.

Zanoni, Nicola / Longo, Chiara / Frizzelli, Annalisa / Longo, Francesco / Accogli, Rocco / Chetta, Alfredo Antonio

Acta bio-medica : Atenei Parmensis

2022 Volume 93, Issue 1, Page(s) e2022015

Abstract: Platypnea-Orthodeoxia Syndrome (POS) is a clinical entity defined as positional dyspnoea (platypnea) and arterial desaturation (orthodeoxia) that occurs when sitting or standing up and usually resolves by lying down. Up to April 25th 2021, eleven cases ... ...

Abstract	Platypnea-Orthodeoxia Syndrome (POS) is a clinical entity defined as positional dyspnoea (platypnea) and arterial desaturation (orthodeoxia) that occurs when sitting or standing up and usually resolves by lying down. Up to April 25th 2021, eleven cases of POS after SARS-CoV-2 pneumonia have been reported on Pubmed. Accordingly, SARS-CoV-2 infection may be considered as an emergent cause of POS due to an increase in ventilation/perfusion (V/Q) mismatch. In this article we provide an update on the patient with POS after fibrotic evolution of SARS-CoV-2 interstitial pneumonia, which we previously reported and we discuss the case reports of POS due to SARS-CoV-2 infection.
MeSH term(s)	COVID-19/complications ; Dyspnea/etiology ; Humans ; Lung Diseases, Interstitial/complications ; Lung Diseases, Interstitial/diagnosis ; Posture ; SARS-CoV-2
Language	English
Publishing date	2022-03-14
Publishing country	Italy
Document type	Case Reports ; Journal Article ; Review
ZDB-ID	2114240-3
ISSN	2531-6745 ; 0392-4203
ISSN (online)	2531-6745
ISSN	0392-4203
DOI	10.23750/abm.v93i1.11814
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Article ; Online: Challenges and strategies for clinical trials in propionic and methylmalonic acidemias.

Vockley, Jerry / Burton, Barbara / Jurecka, Agnieszka / Ganju, Jitendra / Leiro, Beth / Zori, Roberto / Longo, Nicola

Molecular genetics and metabolism

2023 Volume 139, Issue 3, Page(s) 107612

Abstract: Clinical trial development in rare diseases poses significant study design and methodology challenges, such as disease heterogeneity and appropriate patient selection, identification and selection of key endpoints, decisions on study duration, choice of ... ...

Abstract	Clinical trial development in rare diseases poses significant study design and methodology challenges, such as disease heterogeneity and appropriate patient selection, identification and selection of key endpoints, decisions on study duration, choice of control groups, selection of appropriate statistical analyses, and patient recruitment. Therapeutic development in organic acidemias (OAs) shares many challenges with other inborn errors of metabolism, such as incomplete understanding of natural history, heterogenous disease presentations, requirement for sensitive outcome measures and difficulties recruiting a small sample of participants. Here, we review strategies for the successful development of a clinical trial to evaluate treatment response in propionic and methylmalonic acidemias. Specifically, we discuss crucial decisions that may significantly impact success of the study, including patient selection, identification and selection of endpoints, determination of the study duration, consideration of control groups including natural history controls, and selection of appropriate statistical analyses. The significant challenges associated with designing a clinical trial in rare disease can sometimes be successfully met through strategic engagement with experts in the rare disease, seeking regulatory and biostatistical guidance, and early involvement of patients and families.
MeSH term(s)	Humans ; Propionic Acidemia/genetics ; Propionic Acidemia/therapy ; Rare Diseases/therapy ; Amino Acid Metabolism, Inborn Errors/genetics ; Amino Acid Metabolism, Inborn Errors/therapy ; Research Design ; Methylmalonic Acid
Chemical Substances	Methylmalonic Acid (8LL8S712J7)
Language	English
Publishing date	2023-05-21
Publishing country	United States
Document type	Journal Article ; Review ; Research Support, Non-U.S. Gov't
ZDB-ID	1418518-0
ISSN	1096-7206 ; 1096-7192
ISSN (online)	1096-7206
ISSN	1096-7192
DOI	10.1016/j.ymgme.2023.107612
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