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Article ; Online: Lumbar spine epidural abscess and facet joint septic arthritis in a pediatric patient.

Vergine, Gianluca / Ferrè, Cristina / Menetti, Federico / Libertucci, Francesca / Tonti, Giacomo / Pedini, Annalisa / Poloni, Maurizio

Pediatrics and neonatology

2023 Volume 64, Issue 4, Page(s) 474–475

MeSH term(s)	Humans ; Child ; Epidural Abscess/complications ; Epidural Abscess/diagnostic imaging ; Zygapophyseal Joint/diagnostic imaging ; Spine ; Arthritis, Infectious/diagnosis ; Magnetic Resonance Imaging ; Staphylococcal Infections/complications ; Staphylococcal Infections/diagnosis
Language	English
Publishing date	2023-01-26
Publishing country	Singapore
Document type	Journal Article
ZDB-ID	2441816-X
ISSN	2212-1692 ; 1875-9572
ISSN (online)	2212-1692
ISSN	1875-9572
DOI	10.1016/j.pedneo.2022.12.008
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Article ; Online: Moyamoya disease presenting with tubular dysfunction in a child: pitfalls in diagnosing an atypical hyponatremic-hypertensive syndrome.

Conte, Maria Luisa / La Scola, Claudio / Mencarelli, Francesca / Filippini, Beatrice / Fabbri, Elena / Ragnoni, Valentina / Ravaioli, Elisa / Pasini, Andrea / Vergine, Gianluca

BMC pediatrics

2023 Volume 23, Issue 1, Page(s) 227

Abstract: Background: Moyamoya disease, a cause of pediatric stroke, has been shown to affect furthermore extra-cranial districts, mostly the kidney arterial site, resulting in steno-occlusive changes. Unilateral renal artery stenosis accounts for 8%-10% out of ... ...

Abstract	Background: Moyamoya disease, a cause of pediatric stroke, has been shown to affect furthermore extra-cranial districts, mostly the kidney arterial site, resulting in steno-occlusive changes. Unilateral renal artery stenosis accounts for 8%-10% out of cases of renovascular hypertension in childhood, however it rarely underlies a hyponatremic-hypertensive syndrome (HHS). Case presentation: We describe an 18-month-old boy with a recent history of polyuria and polydipsia, who presented an acute febrile gastroenteritis with neurological impairment, severe dehydration, hyponatremia, hypokalemia, kidney tubular dysfunction, and elevated aldosterone and renin even with a normal blood pressure. Fluid and electrolytes correction was performed, with complete recovery. An abdominal ultrasound displayed a smaller right kidney. A brain magnetic resonance and an electroencephalogram did not show any relevant abnormalities. Five months later, the child experienced a left-side hemiparesis after a traumatic concussion, and a severe hypertension. A brain tomography documented a cerebral ischemia. Brain and kidney angiographic studies displayed puff of smoke findings of internal right carotid artery branches and a steno-occlusive pattern of right renal artery, respectively. Hence, moyamoya disease with HHS secondary to unilateral renal artery stenosis was diagnosed. After an unsuccessful antiplatelet and antihypertensive pharmacological treatment, the boy underwent a renal angioplasty and a cerebral STA-MCA bypass (direct superficial temporal artery-to-middle cerebral artery bypass), resulting in a significant improvement of both neurological and kidney disease. Conclusions: Although the association between unilateral renal artery stenosis and HHS has been previously shown, this is the first report of atypical HHS, with hypertension preceded by tubular dysfunction, recognized in the framework of moyamoya disease.
MeSH term(s)	Male ; Humans ; Child ; Infant ; Renal Artery Obstruction/complications ; Renal Artery Obstruction/diagnostic imaging ; Moyamoya Disease/diagnosis ; Moyamoya Disease/diagnostic imaging ; Hyponatremia ; Hypertension/complications
Language	English
Publishing date	2023-05-08
Publishing country	England
Document type	Case Reports ; Journal Article
ZDB-ID	2041342-7
ISSN	1471-2431 ; 1471-2431
ISSN (online)	1471-2431
ISSN	1471-2431
DOI	10.1186/s12887-023-03926-1
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Article: Fatal Deterioration of a Respiratory Syncytial Virus Infection in an Infant with Abnormal Muscularization of Intra-Acinar Pulmonary Arteries: Autopsy and Histological Findings.

Salfi, Nunzio Cosimo Mario / Vergine, Gianluca / Poloni, Maurizio / Metalli, Sara / Bigucci, Barbara / Facondini, Francesca / Pedrazzi, Gianmatteo / Masciopinto, Francesca / Bernabè, Laura / Sambri, Vittorio / Bonasoni, Maria Paola

Diagnostics (Basel, Switzerland)

2024 Volume 14, Issue 6

Abstract: Respiratory syncytial virus (RSV) infection represents a global and noteworthy cause of hospitalization and death in infants of less than 1 year of age. The typical clinical manifestation is bronchiolitis, an inflammatory process of the small airways. ... ...

Abstract	Respiratory syncytial virus (RSV) infection represents a global and noteworthy cause of hospitalization and death in infants of less than 1 year of age. The typical clinical manifestation is bronchiolitis, an inflammatory process of the small airways. The symptoms are usually a brief period of low-grade fever, cough, coryza, breathing difficulties, and reduced feeding. The progression of the disease is difficult to predict, even in previous healthy subjects. Symptoms may also be subtle and underestimated, thus leading to sudden unexpected infant death (SUID). In these cases, RSV infection is discovered at autopsy, either histologically or through real-time reverse transcription polymerase chain reaction (RT-PCR) performed on nasopharyngeal swabs. Herein, we describe a case of RSV infection in a 6-month-old infant with no risk factors, who rapidly deteriorated and unexpectedly died of respiratory insufficiency in a hospital setting. RT-PCR on nasopharyngeal swabs revealed RSV. The autopsy showed diffuse lymphogranulocytic bronchitis and bronchiolitis, and multiple foci of acute pneumonia. Abnormal muscularization of the intra-acinar pulmonary arteries was also observed, which likely contributed to worsening the lung impairment.
Language	English
Publishing date	2024-03-12
Publishing country	Switzerland
Document type	Case Reports
ZDB-ID	2662336-5
ISSN	2075-4418
ISSN	2075-4418
DOI	10.3390/diagnostics14060601
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Article ; Online: [A child with severe growth delay and renal cysts].

Vergine, Gianluca / Ravaioli, Elisa / Palazzo, Viviana / Gambaro, Giovanni / Giglio, Sabrina

Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia

2019 Volume 36, Issue 1

Abstract: We describe the case of a 5-year-old who came to our attention for a growth delay. Among the investigations planned because of the child's short stature, we performed an abdominal ultrasound showing normal-sized kidneys with signs of cortico-medullar de- ... ...

Abstract	We describe the case of a 5-year-old who came to our attention for a growth delay. Among the investigations planned because of the child's short stature, we performed an abdominal ultrasound showing normal-sized kidneys with signs of cortico-medullar de-differentiation, diffuse medullary hyperechogenicity with reduction of cortical thickness and cortical-medullary cysts. The ultrasound findings, also confirmed in MRI, led us to suspect a genetically determined cystic nephropathy of the nephronophthisis or medullary cystic disease type. No mutation was identified in NPHP1, HNFb1 and UMOD genes. Interestingly, laboratory investigations revealed a severe metabolic acidosis with normal renal function and hypokalemia. These findings are not characteristics of a nephronophthisis. We therefore also performed molecular analysis for distal tubular acidosis (dRTA) that showed the association of two genetic variants of ATP6V1B1 and SLC4A genes. These "double mutations" have been inherited from the mother, which however does not have the classic dRTA phenotype. These variants do not currently meet the criteria for a conclusive molecular diagnosis of dRTA but represent variants of uncertain clinical significance. However, considering the clinical and laboratory data one can reasonably conclude that the child has a "probable" diagnosis of distal tubular acidosis. The rapid recovery of staturo-ponderal growth after the start of alkalizing treatment supports our diagnostic hypothesis. The association between distal tubular acidosis and renal cysts is well described in the literature. The hypothesis is that chronic hypokalemia may play a possible role in the formation of renal cysts.
MeSH term(s)	Acidosis/diagnosis ; Acidosis, Renal Tubular/complications ; Acidosis, Renal Tubular/diagnosis ; Acidosis, Renal Tubular/genetics ; Child, Preschool ; Growth Disorders/complications ; Humans ; Hypokalemia/diagnosis ; Kidney/diagnostic imaging ; Kidney Diseases, Cystic/complications ; Kidney Diseases, Cystic/diagnostic imaging ; Male ; Mutation ; SLC4A Proteins/genetics ; Ultrasonography ; Vacuolar Proton-Translocating ATPases/genetics
Chemical Substances	ATP6V1B1 protein, human ; SLC4A Proteins ; Vacuolar Proton-Translocating ATPases (EC 3.6.1.-)
Language	Italian
Publishing date	2019-02-21
Publishing country	Italy
Document type	Case Reports ; Journal Article
ZDB-ID	1237110-5
ISSN	1724-5990 ; 0393-5590
ISSN (online)	1724-5990
ISSN	0393-5590
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Article: Bartter Syndrome Type 1 Presenting as Nephrogenic Diabetes Insipidus.

Vergine, Gianluca / Fabbri, Elena / Pedini, Annalisa / Tedeschi, Silvana / Borsa, Niccolò

Case reports in pediatrics

2018 Volume 2018, Page(s) 9175271

Abstract: Bartter syndrome (BS) type 1 (OMIM #601678) is a hereditary salt-losing renal tubular disorder characterized by hypokalemic metabolic alkalosis, hypercalciuria, nephrocalcinosis, polyuria, recurrent vomiting, and growth retardation. It is caused by loss- ... ...

Abstract	Bartter syndrome (BS) type 1 (OMIM #601678) is a hereditary salt-losing renal tubular disorder characterized by hypokalemic metabolic alkalosis, hypercalciuria, nephrocalcinosis, polyuria, recurrent vomiting, and growth retardation. It is caused by loss-of-function mutations of the
Language	English
Publishing date	2018-02-21
Publishing country	United States
Document type	Case Reports
ZDB-ID	2659094-3
ISSN	2090-6811 ; 2090-6803
ISSN (online)	2090-6811
ISSN	2090-6803
DOI	10.1155/2018/9175271
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Article ; Online: Letter to the Editor.

Vergine, Gianluca / Fabbri, Elena / Conte, Maria L / La Torre, Michele / Dell'Omo, Valeria / Ronchi, Flavio

Journal of paediatrics and child health

2020 Volume 56, Issue 3, Page(s) 490–491

Language	English
Publishing date	2020-03-16
Publishing country	Australia
Document type	Letter
ZDB-ID	1024476-1
ISSN	1440-1754 ; 1034-4810
ISSN (online)	1440-1754
ISSN	1034-4810
DOI	10.1111/jpc.14838
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Article ; Online: A case of pancytopenia and hypercellular bone marrow: when family history can suggest the diagnosis.

Fabbri, Elena / Pericoli, Roberta / Filippini, Beatrice / Gasperini, Pietro / Stella, Marcello / Vergine, Gianluca

International journal of hematology

2019 Volume 109, Issue 3, Page(s) 243–244

MeSH term(s)	Bone Marrow/metabolism ; Bone Marrow/pathology ; Family ; Humans ; Infant ; Male ; Pancytopenia/diagnosis ; Pancytopenia/metabolism ; Pancytopenia/pathology
Language	English
Publishing date	2019-01-21
Publishing country	Japan
Document type	Case Reports ; Letter
ZDB-ID	1076875-0
ISSN	1865-3774 ; 0917-1258 ; 0925-5710
ISSN (online)	1865-3774
ISSN	0917-1258 ; 0925-5710
DOI	10.1007/s12185-018-02569-8
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Article ; Online: Drowning in Children and Predictive Parameters: A 15-Year Multicenter Retrospective Analysis.

Peri, Francesca / De Nardi, Laura / Canuto, Arianna / Gaiero, Alberto / Noli, Serena / Ferretti, Marta / Vergine, Gianluca / Falcioni, Alice / Copponi, Elisabetta / Tagliabue, Bruna / Massart, Francesco / Fabiani, Elisabetta / Stringhi, Carlo / Rubini, Monica / Zamagni, Giulia / Amaddeo, Alessandro / Genovese, Maria Rita / Norbedo, Stefania

Pediatric emergency care

2023 Volume 39, Issue 7, Page(s) 516–523

Abstract: Background: Drowning is a serious and underestimated public health problem, with the highest morbidity and mortality reported among children. Data regarding pediatric outcomes of drowning are often inadequate, and data collection is poorly standardized ... ...

Abstract	Background: Drowning is a serious and underestimated public health problem, with the highest morbidity and mortality reported among children. Data regarding pediatric outcomes of drowning are often inadequate, and data collection is poorly standardized among centers. This study aims to provide an overview of a drowning pediatric population in pediatric emergency department, focusing on its main characteristics and management and evaluating prognostic factors. Methods: This is a retrospective multicenter study involving eight Italian Pediatric Emergency Departments. Data about patients between 0 to 16 years of age who drowned between 2006 and 2021 were collected and analyzed according to the Utstein-style guidelines for drowning. Results: One hundred thirty-five patients (60.9% males, median age at the event 5; interquartile range, 3-10) were recruited and only those with known outcome were retained for the analysis (133). Nearly 10% had a preexisting medical conditions with epilepsy being the most common comorbidity. One third were hospitalized in the intensive care unit (ICU) and younger males had a higher rate of ICU admission than female peers. Thirty-five patients (26.3%) were hospitalized in a medical ward while 19 (14.3%) were discharged from the emergency department and 11 (8.3%) were discharged after a brief medical observation less than 24 hours. Six patients died (4.5%). Medium stay in the ED was approximately 40 hours. No difference in terms of ICU admission was found between cardiopulmonary resuscitation performed by bystanders or trained medical personnel ( P = 0.388 vs 0.390). Conclusions: This study offers several perspectives on ED victims who drowned. One of the major finding is that no difference in outcomes was seen in patients who received cardiopulmonary resuscitation performed by bystanders or medical services, highlighting the importance of a prompt intervention.
MeSH term(s)	Male ; Child ; Humans ; Female ; Drowning/epidemiology ; Cardiopulmonary Resuscitation ; Retrospective Studies ; Hospitalization ; Patient Discharge ; Near Drowning/epidemiology ; Near Drowning/therapy
Language	English
Publishing date	2023-06-18
Publishing country	United States
Document type	Multicenter Study ; Journal Article
ZDB-ID	632588-9
ISSN	1535-1815 ; 0749-5161
ISSN (online)	1535-1815
ISSN	0749-5161
DOI	10.1097/PEC.0000000000002987
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Article ; Online: Malattia di Kawasaki atipica esordita con colestasi acuta ed interessamento coronarico precoce in un adolescente.

Vergine, Gianluca / Di Napoli, Luca / Bigucci, Barbara / Fabbri, Elena / Viola, Laura / Libertucci, Francesca / Testa, Paola / Prandstraller, Daniela

Giornale italiano di cardiologia (2006)

2020 Volume 21, Issue 2, Page(s) 152–156

Abstract: Kawasaki disease is an acute febrile illness of childhood that affects usually children younger than 5 years of age. The diagnosis is based on typical clinical features. Atypical or incomplete forms of Kawasaki disease can be observed in almost 20% of ... ...

Title translation	Atypical Kawasaki disease with acute cholestasis and early coronary involvement at onset in an adolescent.
Abstract	Kawasaki disease is an acute febrile illness of childhood that affects usually children younger than 5 years of age. The diagnosis is based on typical clinical features. Atypical or incomplete forms of Kawasaki disease can be observed in almost 20% of patients and at onset is a clinical challenge leading to diagnostic and therapeutic delays with higher risk of coronary abnormalities. We report the case of a 13-year-old boy who presented with febrile cholestasis, abdominal pain and early coronary anomalies that was diagnosed with Kawasaki disease. Atypical findings of our case at onset were the age, the clinical presentation and the timing of appearance of coronary anomalies. A high index of suspicion of Kawasaki disease should be maintained in patients presenting with febrile cholestatic jaundice.
MeSH term(s)	Abdominal Pain/etiology ; Acute Disease ; Adolescent ; Cholestasis/etiology ; Coronary Vessel Anomalies/etiology ; Fever/etiology ; Humans ; Male ; Mucocutaneous Lymph Node Syndrome/diagnosis ; Mucocutaneous Lymph Node Syndrome/physiopathology
Language	Italian
Publishing date	2020-02-12
Publishing country	Italy
Document type	Case Reports ; Journal Article
ZDB-ID	2272414-X
ISSN	1972-6481 ; 1827-6806
ISSN (online)	1972-6481
ISSN	1827-6806
DOI	10.1714/3300.32709
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Article ; Online: Le lesioni acro-ischemiche nei bambini-adolescenti in tempi di CoViD-19: dal micro-ambiente da clausura all’interferone.

Marchetti, Federico / Guiducci, Claudia / Bigucci, Barbara / Iacono, Alessandra / Calderoni, Ombretta / Sorci, Maria Rita / Sparacino, Monica / Semprini, Simona / Vergine, Gianluca

Recenti progressi in medicina

2020 Volume 111, Issue 9, Page(s) 480–486

Abstract: At the end of March 2020, just over a month after the first ascertained case of CoViD-19 infection in Italy, the first reports of acute lesions of acro-ischemia appeared, especially in pre-adolescents and adolescents. These manifestations have been ... ...

Title translation	Acro-ischemic injuries in children-adolescents during CoViD-19 pandemic: from lifestyle changes due to lockdown to interferone.
Abstract	At the end of March 2020, just over a month after the first ascertained case of CoViD-19 infection in Italy, the first reports of acute lesions of acro-ischemia appeared, especially in pre-adolescents and adolescents. These manifestations have been called in the course of these months in various ways, from "acro-ischemia acuta", "erythema pernio", "chilblains", up to characterize them more recently as "CoViD Toes". Clinical manifestations do not usually associate with other typical symptoms of Covid-19 and do not find a classical and defined serological antibody response (IgG and IgM). From a clinical point of view it is a localized and self-resolving problem of an interesting and relatively new pathogenetic model of disease in relation to a viral agent. Future studies must make us understand if there is in this specific condition a low viral load is not detectable by current methods and if this explains the inability to produce an adequate immune response for CoViD-19. It is important to determine whether the interferon immune response in some subjects can be the cause of both the low viremia and the endothelial damage so localized in the acral-site, as happens in other models of diseases (chilblain-lupus like). On the contrary, some authors believe that the acral lesions are attributable to chilblains caused by a series of favourable environmental conditions due to forced enclosure. We report the descriptive experience of 14 cases of acro-ischemia in children and adolescents observed in the territorial area of Ravenna and Rimini. The cases were subjected to the nasopharyngeal swab and to the search for antibodies with ELISA method for CoViD-19 both with negative results.
MeSH term(s)	Adolescent ; COVID-19 ; Chilblains/epidemiology ; Chilblains/etiology ; Chilblains/immunology ; Child ; Coronavirus Infections/complications ; Coronavirus Infections/epidemiology ; Coronavirus Infections/immunology ; Female ; Humans ; Interferons/immunology ; Ischemia/epidemiology ; Ischemia/etiology ; Ischemia/immunology ; Italy/epidemiology ; Life Style ; Male ; Pandemics ; Pneumonia, Viral/complications ; Pneumonia, Viral/epidemiology ; Pneumonia, Viral/immunology ; Quarantine ; Toes
Chemical Substances	Interferons (9008-11-1)
Keywords	covid19
Language	Italian
Publishing date	2020-09-11
Publishing country	Italy
Document type	Journal Article
ZDB-ID	138266-4
ISSN	2038-1840 ; 0034-1193
ISSN (online)	2038-1840
ISSN	0034-1193
DOI	10.1701/3421.34060
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