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Article ; Online: A physicist's approach to COVID-19 transmission via expiratory droplets.

Carelli, Pasquale

2020 Volume 144, Page(s) 109997

Abstract: In this paper, a physicist's approach is given to support the necessity to wear surgical masks during the COVID-19 pandemics; they have become compulsory in Eastern countries, while in Western countries they are still an optional. My thesis is supported ... ...

Abstract	In this paper, a physicist's approach is given to support the necessity to wear surgical masks during the COVID-19 pandemics; they have become compulsory in Eastern countries, while in Western countries they are still an optional. My thesis is supported and described on the basis of a physicist's model which studies the droplets behavior when emitted by the respiratory apparatus of an infected person, symptomatic or not. The intermediate dimensioned droplets are proved to be changed into aerosol, losing their water content and becoming seriously contagious, but in their initial phase they could be easily caught by a simple surgical mask. The actual efficiency of FFP3 masks has been examined and found to be lower than expected.
MeSH term(s)	Aerosols ; Air Microbiology ; COVID-19/epidemiology ; COVID-19/prevention & control ; COVID-19/transmission ; Exhalation ; Filtration ; Gravitation ; Humans ; Hydrodynamics ; Masks/supply & distribution ; Models, Biological ; Pandemics ; Particle Size ; Respiratory System/virology ; SARS-CoV-2/isolation & purification ; Viscosity
Chemical Substances	Aerosols
Keywords	covid19
Language	English
Publishing date	2020-06-17
Publishing country	United States
Document type	Journal Article
ZDB-ID	193145-3
ISSN	1532-2777 ; 0306-9877
ISSN (online)	1532-2777
ISSN	0306-9877
DOI	10.1016/j.mehy.2020.109997
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Article ; Online: A physicist's approach to COVID-19 transmission via expiratory droplets

Carelli, Pasquale

Medical Hypotheses

2020 Volume 144, Page(s) 109997

Keywords	General Medicine ; covid19
Language	English
Publisher	Elsevier BV
Publishing country	us
Document type	Article ; Online
ZDB-ID	193145-3
ISSN	1532-2777 ; 0306-9877
ISSN (online)	1532-2777
ISSN	0306-9877
DOI	10.1016/j.mehy.2020.109997
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Article: A physicist's approach to COVID-19 transmission via expiratory droplets

Carelli, Pasquale

Med Hypotheses

Abstract	In this paper, a physicist's approach is given to support the necessity to wear surgical masks during the COVID-19 pandemics; they have become compulsory in Eastern countries, while in Western countries they are still an optional. My thesis is supported and described on the basis of a physicist's model which studies the droplets behavior when emitted by the respiratory apparatus of an infected person, symptomatic or not. The intermediate dimensioned droplets are proved to be changed into aerosol, losing their water content and becoming seriously contagious, but in their initial phase they could be easily caught by a simple surgical mask. The actual efficiency of FFP3 masks has been examined and found to be lower than expected.
Keywords	covid19
Publisher	WHO
Document type	Article
Note	WHO #Covidence: #599143
Database	COVID19

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Article ; Online: Epilepsy and chromosome 18 abnormalities: A review.

Verrotti, Alberto / Carelli, Alessia / di Genova, Lorenza / Striano, Pasquale

Seizure

2015 Volume 32, Page(s) 78–83

Abstract: Purpose: To analyze the various types of epilepsy in subjects with chromosome 18 aberrations in order to define epilepsy and its main clinical, electroclinical and prognostic aspects in chromosome 18 anomalies.: Methods: A careful overview of recent ... ...

Abstract	Purpose: To analyze the various types of epilepsy in subjects with chromosome 18 aberrations in order to define epilepsy and its main clinical, electroclinical and prognostic aspects in chromosome 18 anomalies. Methods: A careful overview of recent works concerning chromosome 18 aberrations and epilepsy has been carried out considering the major groups of chromosomal 18 aberrations, identified using MEDLINE and EMBASE database from 1980 to 2015. Results: Epilepsy seems to be particularly frequent in patients with trisomy or duplication of chromosome 18 with a prevalence of up to 65%. Approximately, over half of the patients develop epilepsy during the first year of life. Epilepsy can be focal or generalized; infantile spasms have also been reported. Brain imagines showed anatomical abnormalities in 38% of patients. Some antiepileptic drugs as valproic acid and carbamazepine were useful for treating seizures although a large majority of patients need polytherapy. Conclusion: Children with chromosomal 18 abnormalities can present different types of epilepsy, more frequently focal seizures in individuals with 18q- deletion syndrome, while both complex partial seizures and generalized tonic-clonic seizures have been described in patients who suffer for trisomy 18. Outcome in term of seizures frequency and duration seems to be variable and epilepsy is drug resistant in half of the children, especially in children with trisomy 18 and generalized epilepsy.
MeSH term(s)	Chromosome Deletion ; Chromosome Disorders/epidemiology ; Chromosomes, Human, Pair 18 ; Epilepsy/diagnosis ; Epilepsy/epidemiology ; Epilepsy/genetics ; Epilepsy/pathology ; Humans ; Ring Chromosomes ; Translocation, Genetic ; Trisomy ; Trisomy 18 Syndrome
Language	English
Publishing date	2015-11
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	1137610-7
ISSN	1532-2688 ; 1059-1311
ISSN (online)	1532-2688
ISSN	1059-1311
DOI	10.1016/j.seizure.2015.09.013
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Article ; Online: Sleep-related periodic respiration with central sleep apnea in Leber Hereditary Optic Neuropathy (LHON).

Vetrugno, Roberto / Valentino, Maria Lucia / La Morgia, Chiara / Liguori, Rocco / Stecchi, Sergio / Mascalchi, Mario / Fabbri, Margherita / Montagna, Pasquale / Carelli, Valerio

Sleep medicine

2010 Volume 11, Issue 4, Page(s) 426–427

MeSH term(s)	Adult ; Humans ; Male ; Optic Atrophy, Hereditary, Leber/complications ; Polysomnography ; Sleep Apnea Syndromes/complications ; Sleep Apnea, Central/complications ; Sleep Apnea, Central/diagnosis
Language	English
Publishing date	2010-04
Publishing country	Netherlands
Document type	Case Reports ; Letter
ZDB-ID	2012041-2
ISSN	1878-5506 ; 1389-9457
ISSN (online)	1878-5506
ISSN	1389-9457
DOI	10.1016/j.sleep.2009.08.007
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Article ; Online: Melanopsin-expressing retinal ganglion cells: implications for human diseases.

La Morgia, Chiara / Ross-Cisneros, Fred N / Hannibal, Jens / Montagna, Pasquale / Sadun, Alfredo A / Carelli, Valerio

Vision research

2011 Volume 51, Issue 2, Page(s) 296–302

Abstract: In the last decade, there was the seminal discovery of melanopsin-expressing retinal ganglion cells (mRGCs) as a new class of photoreceptors that subserve the photoentrainment of circadian rhythms and other non-image forming functions of the eye. Since ... ...

Abstract	In the last decade, there was the seminal discovery of melanopsin-expressing retinal ganglion cells (mRGCs) as a new class of photoreceptors that subserve the photoentrainment of circadian rhythms and other non-image forming functions of the eye. Since then, there has been a growing research interest on these cells, mainly focused on animal models. Only recently, a few studies have started to address the relevance of the mRGC system in humans and related diseases. We recently discovered that mRGCs resist neurodegeneration in two inherited mitochondrial disorders that cause blindness, i.e. Leber hereditary optic neuropathy and dominant optic atrophy. The mechanism leading to mRGCs sparing in these blinding disorders, characterized by extensive and selective loss of RGCs, is currently unknown and under investigation. Other studies reported on mRGCs in glaucoma, on genetic variation of the melanopsin gene (OPN4) in seasonal affective disorder and on the role of mRGCs in migraineous photophobia. Our own data and studies from others have shown a significant reduction of mRGCs with aging. We anticipate that these studies will lead to many other investigations addressing the role of mRGCs and circadian photoreception in the pathogenesis of circadian and sleep abnormalities in neurodegenerative disorders.
MeSH term(s)	Humans ; Mitochondrial Diseases/physiopathology ; Photophobia/physiopathology ; Retinal Diseases/physiopathology ; Retinal Ganglion Cells/metabolism ; Rod Opsins/genetics ; Rod Opsins/metabolism ; Seasonal Affective Disorder/genetics ; Visual Pathways/physiology
Chemical Substances	Rod Opsins ; melanopsin
Language	English
Publishing date	2011-01-28
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	200427-6
ISSN	1878-5646 ; 0042-6989
ISSN (online)	1878-5646
ISSN	0042-6989
DOI	10.1016/j.visres.2010.07.023
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Article ; Online: High frequency of migraine-only patients negative for the 3243 A>G tRNALeu mtDNA mutation in two MELAS families.

Cevoli, Sabina / Pallotti, Francesco / La Morgia, Chiara / Valentino, Maria L / Pierangeli, Giulia / Cortelli, Pietro / Baruzzi, Agostino / Montagna, Pasquale / Carelli, Valerio

Cephalalgia : an international journal of headache

2010 Volume 30, Issue 8, Page(s) 919–927

Abstract: Migraine is associated with stroke-like episodes in mitochondrial encephalomyopathy, lactic acidosis, stroke-like syndrome (MELAS). Moreover, abnormalities of oxidative phosphorylation are also reported in migraine. We studied two maternal lineages with ... ...

Abstract	Migraine is associated with stroke-like episodes in mitochondrial encephalomyopathy, lactic acidosis, stroke-like syndrome (MELAS). Moreover, abnormalities of oxidative phosphorylation are also reported in migraine. We studied two maternal lineages with MELAS and chronic progressive external ophthalmoplegia (CPEO) affected probands carrying the 3243 A>G tRNA(Leu) (MELAS) mutation, remarkable for a high frequency of subjects suffering only migraine. Thus, migraine could be a monosymptomatic expression of the MELAS mutation. We assessed the 3243 A>G tRNA(Leu) mutational load in skeletal muscle and other somatic tissues from the migraine-only subjects, as well as lactic acid levels after exercise. All migraine-only subjects did not carry the MELAS mutation. Muscle biopsy showed mild mitochondrial abnormalities in the non-mutant, migraine-only subjects and, occasionally, abnormal lactic acid. Clear features of mitochondrial myopathy and pathological lactic acid characterised the subjects carrying the MELAS mutation. Our study demonstrates that migraine-only subjects lacked the MELAS mutation, but still had a possible mtDNA-associated genetic predisposition, being maternally related and having some evidence of impaired mitochondrial oxidative phosphorylation.
MeSH term(s)	Adolescent ; Adult ; DNA, Mitochondrial/genetics ; Female ; Genetic Predisposition to Disease ; Humans ; MELAS Syndrome/complications ; MELAS Syndrome/genetics ; Male ; Middle Aged ; Migraine Disorders/genetics ; Mutation ; Pedigree ; Polymerase Chain Reaction ; RNA, Transfer, Leu/genetics
Chemical Substances	DNA, Mitochondrial ; RNA, Transfer, Leu
Language	English
Publishing date	2010-08
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	604567-4
ISSN	1468-2982 ; 0333-1024
ISSN (online)	1468-2982
ISSN	0333-1024
DOI	10.1177/0333102409354654
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Article ; Online: Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.

Bonora, Elena / Chakrabarty, Sanjiban / Kellaris, Georgios / Tsutsumi, Makiko / Bianco, Francesca / Bergamini, Christian / Ullah, Farid / Isidori, Federica / Liparulo, Irene / Diquigiovanni, Chiara / Masin, Luca / Rizzardi, Nicola / Cratere, Mariapia Giuditta / Boschetti, Elisa / Papa, Valentina / Maresca, Alessandra / Cenacchi, Giovanna / Casadio, Rita / Martelli, Pierluigi /

Matera, Ivana / Ceccherini, Isabella / Fato, Romana / Raiola, Giuseppe / Arrigo, Serena / Signa, Sara / Sementa, Angela Rita / Severino, Mariasavina / Striano, Pasquale / Fiorillo, Chiara / Goto, Tsuyoshi / Uchino, Shumpei / Oyazato, Yoshinobu / Nakamura, Hisayoshi / Mishra, Sushil K / Yeh, Yu-Sheng / Kato, Takema / Nozu, Kandai / Tanboon, Jantima / Morioka, Ichiro / Nishino, Ichizo / Toda, Tatsushi / Goto, Yu-Ichi / Ohtake, Akira / Kosaki, Kenjiro / Yamaguchi, Yoshiki / Nonaka, Ikuya / Iijima, Kazumoto / Mimaki, Masakazu / Kurahashi, Hiroki / Raams, Anja / MacInnes, Alyson / Alders, Mariel / Engelen, Marc / Linthorst, Gabor / de Koning, Tom / den Dunnen, Wilfred / Dijkstra, Gerard / van Spaendonck, Karin / van Gent, Dik C / Aronica, Eleonora M / Picco, Paolo / Carelli, Valerio / Seri, Marco / Katsanis, Nicholas / Duijkers, Floor A M / Taniguchi-Ikeda, Mariko / De Giorgio, Roberto

Brain : a journal of neurology

2021 Volume 144, Issue 5, Page(s) 1451–1466

Abstract: Abnormal gut motility is a feature of several mitochondrial encephalomyopathies, and mutations in genes such as TYMP and POLG, have been linked to these rare diseases. The human genome encodes three DNA ligases, of which only one, ligase III (LIG3), has ... ...

Abstract	Abnormal gut motility is a feature of several mitochondrial encephalomyopathies, and mutations in genes such as TYMP and POLG, have been linked to these rare diseases. The human genome encodes three DNA ligases, of which only one, ligase III (LIG3), has a mitochondrial splice variant and is crucial for mitochondrial health. We investigated the effect of reduced LIG3 activity and resulting mitochondrial dysfunction in seven patients from three independent families, who showed the common occurrence of gut dysmotility and neurological manifestations reminiscent of mitochondrial neurogastrointestinal encephalomyopathy. DNA from these patients was subjected to whole exome sequencing. In all patients, compound heterozygous variants in a new disease gene, LIG3, were identified. All variants were predicted to have a damaging effect on the protein. The LIG3 gene encodes the only mitochondrial DNA (mtDNA) ligase and therefore plays a pivotal role in mtDNA repair and replication. In vitro assays in patient-derived cells showed a decrease in LIG3 protein levels and ligase activity. We demonstrated that the LIG3 gene defects affect mtDNA maintenance, leading to mtDNA depletion without the accumulation of multiple deletions as observed in other mitochondrial disorders. This mitochondrial dysfunction is likely to cause the phenotypes observed in these patients. The most prominent and consistent clinical signs were severe gut dysmotility and neurological abnormalities, including leukoencephalopathy, epilepsy, migraine, stroke-like episodes, and neurogenic bladder. A decrease in the number of myenteric neurons, and increased fibrosis and elastin levels were the most prominent changes in the gut. Cytochrome c oxidase (COX) deficient fibres in skeletal muscle were also observed. Disruption of lig3 in zebrafish reproduced the brain alterations and impaired gut transit in vivo. In conclusion, we identified variants in the LIG3 gene that result in a mitochondrial disease characterized by predominant gut dysmotility, encephalopathy, and neuromuscular abnormalities.
MeSH term(s)	Animals ; DNA Ligase ATP/genetics ; Female ; Gastrointestinal Diseases/genetics ; Gastrointestinal Diseases/pathology ; Gastrointestinal Motility/genetics ; Humans ; Male ; Mitochondrial Encephalomyopathies/genetics ; Mitochondrial Encephalomyopathies/pathology ; Mutation ; Pedigree ; Poly-ADP-Ribose Binding Proteins/genetics ; Zebrafish
Chemical Substances	Poly-ADP-Ribose Binding Proteins ; DNA Ligase ATP (EC 6.5.1.1) ; LIG3 protein, human (EC 6.5.1.1)
Language	English
Publishing date	2021-04-14
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	80072-7
ISSN	1460-2156 ; 0006-8950
ISSN (online)	1460-2156
ISSN	0006-8950
DOI	10.1093/brain/awab056
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Article ; Online: Epilepsy in Menkes disease: an electroclinical long-term study of 28 patients.

Verrotti, Alberto / Cusmai, Raffaella / Darra, Francesca / Martelli, Paola / Accorsi, Patrizia / Bergamo, Silvia / Bevivino, Elsa / Coppola, Giangennaro / Freri, Elena / Grosso, Salvatore / Matricardi, Sara / Parisi, Pasquale / Sartori, Stefano / Spalice, Alberto / Specchio, Nicola / Carelli, Alessia / Zini, Daniela / Dalla Bernardina, Bernardo / Giordano, Lucio

Epilepsy research

2014 Volume 108, Issue 9, Page(s) 1597–1603

Abstract: Background: Epilepsy is a frequent and severe feature of Menkes disease (MD) but only few studies described the long-term evolution of these children. We report a series of 28 epileptic MD patients, with clinical characteristics, EEG abnormalities, ... ...

Abstract	Background: Epilepsy is a frequent and severe feature of Menkes disease (MD) but only few studies described the long-term evolution of these children. We report a series of 28 epileptic MD patients, with clinical characteristics, EEG abnormalities, brain malformations and long-term outcome. Methods: EEG, clinical characteristics and neuroimaging features in 28 MD patients were analyzed at the onset of epilepsy and after long-term follow-up (at least 4 years). We subdivided the patients into two groups: Group 1, 16 patients who received a subcutaneous copper-histidine treatment, and Group 2 including 12 patients who did not get any therapies. Results: The large majority of our patients presented at the onset of epilepsy focal seizures (FS) and infantile spasms (IS). Five patients had recurrent status epilepticus (SE). During the follow-up, patients showed multiple seizure types: 6 patients had generalized tonic clonic seizures (GCT), 6 patients presented IS, 10 children had FS, 11 had myoclonic jerks and 3 had SE. Therapy with various antiepileptic drugs had poor efficacy, except in three patients who showed seizure disappearance with consequent discontinuation of antiepileptic therapy. There was no difference of neurological outcome among the two groups analyzed. Conclusions: Epilepsy in MD is a difficult to treat problem. At the onset, the most frequent type of seizures are FC and IS; in the next months, other kinds of seizures can appear. Many children are drug resistant. Institution of replacement therapy with copper-histidine seems to be not beneficial for epilepsy.
MeSH term(s)	Age of Onset ; Anticonvulsants/therapeutic use ; Child, Preschool ; Electroencephalography ; Epilepsy/diagnosis ; Epilepsy/etiology ; Humans ; Infant ; Longitudinal Studies ; Magnetic Resonance Imaging ; Male ; Menkes Kinky Hair Syndrome/complications ; Menkes Kinky Hair Syndrome/drug therapy ; Menkes Kinky Hair Syndrome/mortality ; Neuropsychological Tests ; Retrospective Studies ; Tomography Scanners, X-Ray Computed
Chemical Substances	Anticonvulsants
Language	English
Publishing date	2014-11
Publishing country	Netherlands
Document type	Journal Article ; Multicenter Study
ZDB-ID	632939-1
ISSN	1872-6844 ; 0920-1211
ISSN (online)	1872-6844
ISSN	0920-1211
DOI	10.1016/j.eplepsyres.2014.08.006
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Article ; Online: Idebenone treatment in Leber's hereditary optic neuropathy.

Carelli, Valerio / La Morgia, Chiara / Valentino, Maria Lucia / Rizzo, Giovanni / Carbonelli, Michele / De Negri, Anna Maria / Sadun, Federico / Carta, Arturo / Guerriero, Silvana / Simonelli, Francesca / Sadun, Alfredo Arrigo / Aggarwal, Divya / Liguori, Rocco / Avoni, Patrizia / Baruzzi, Agostino / Zeviani, Massimo / Montagna, Pasquale / Barboni, Piero

Brain : a journal of neurology

2011 Volume 134, Issue Pt 9, Page(s) e188

MeSH term(s)	Antioxidants/therapeutic use ; Female ; Humans ; Male ; Optic Atrophy, Hereditary, Leber/drug therapy ; Placebos ; Ubiquinone/analogs & derivatives ; Ubiquinone/therapeutic use
Chemical Substances	Antioxidants ; Placebos ; Ubiquinone (1339-63-5) ; idebenone (HB6PN45W4J)
Language	English
Publishing date	2011-09
Publishing country	England
Document type	Comment ; Letter ; Research Support, Non-U.S. Gov't
ZDB-ID	80072-7
ISSN	1460-2156 ; 0006-8950
ISSN (online)	1460-2156
ISSN	0006-8950
DOI	10.1093/brain/awr180
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