CALEVO , Maria Grazia

Poland Syndrome (PS) is a rare condition, with an estimated incidence of approximately 1 per 30,000 births and encompasses a wide range of severities of chest and upper arm anomalies. The etiology remains unknown, but genetic involvement is suspected. Few radiological investigations have proven useful in the study PS phenotypes and we propose a...

Background Alternating Hemiplegia of Childhood (AHC) is a severe disorder. Several drugs have been administered as prophylaxis for paroxysmal attacks, however, no therapy is completely effective. Methods Our aim is to review the pharmacological data related to the prophylactic and acute treatment of a cohort of 30 patients (16 M, 14 F, age...

Objective: Twin pregnancy rates have increased in the past 30 years. We describe the experience of the Neonatal Emergency Transport Service of the Gaslini Hospital, Genoa, Italy, in the transport of twin newborns. Methods: This was a retrospective study (1996-2021); 7,852 medical charts from the Neonatal Emergency Transport Service were...

Objective: Tandem Control-IQ is an advanced hybrid closed loop (AHCL) system with a Sleep Activity Mode to intensify glycemic control overnight. The aim of the study is to evaluate the effectiveness of using Sleep Mode or not among Tandem Control-IQ users. Research design and methods: We performed a retrospective Tandem Control-IQ data download...

We investigated drugs most often used to treat epilepsy in Rett Syndrome and their efficacy in a large cohort of Italian patients.

Objective: The aim of this study was to compare the management of preterm newborns with respiratory distress both in the delivery room and during transportation. Methods: We retrospectively evaluated the intubation rate in preterm newborns (inborn vs. outborn), gestational age (GA) < 34 weeks, admitted to the Gaslini neonatal intensive care...

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Purpose: Retinopathy of prematurity (ROP) is the leading cause of childhood blindness. The aim of our study is to validate the new screening criteria elaborated by the Postnatal Growth and Retinopathy of Prematurity (G-ROP) study group in a monocentric cohort of Italian preterm infants. Methods: We retrospectively applied the G-ROP screening...

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Post-haemorrhagic ventricular dilatation (PHVD) remains a major cause of brain injury in preterm infants. Cerebrospinal fluid drainage is often needed to decrease dilatation and prevent further damage. Like most European neonatal intensive care units (NICUs), we treat infants once the ventricular index (VI) has crossed the 97th percentile (p97)...

Background: The pathogenesis of punctuate white matter lesions (PWMLs), a mild form of white matter damage observed in preterm infants, is still a matter of debate. Susceptibility-weighted imaging (SWI) allows to differentiate PWMLs based on the presence (SWI+) or absence (SWI-) of hemosiderin, but little is known about the significance of this...

Poland Syndrome (PS) is a rare congenital disorder presenting with agenesis/hypoplasia of the pectoralis major muscle variably associated with thoracic and/or upper limb anomalies. Most cases are sporadic, but familial recurrence, with different inheritance patterns, has been observed. The genetic etiology of PS remains unknown. Karyotyping and...

ContextData on pubertal timing in Silver Russell syndrome (SRS) are limited. Design and methodsRetrospective observational study including twenty-three SRS patients [11p15 loss of methylation, (11p15 LOM, n=10) and maternal uniparental disomy of chromosome 7 (mUPD7, n=13)] and 21 small for gestational age (SGA). Clinical (thelarche in females;...

Background: During the last decades, severe brain lesions affecting very low birth weight (<1500 gr, VLBW) infants were gradually substituted by milder lesions with debatable prognoses. Objective: The objective of this study is to define type, frequency and 3 years of neurodevelopmental outcome of prematurity-related brain lesions in a modern...

Simple Summary The use of targeted therapies is revolutionizing the prognosis of many cancers; however, there is still limited knowledge of their side effects. Dyslipidemia is often present in cancer patients due to mechanisms that are directly or indirectly related to cancer or therapies. The aim of our study is to investigate the effects of...

BackgroundEncephalitis is an uncommon but severe disorder due to an inflammation of the brain parenchyma, usually diagnosed on clinical, laboratory, electroencephalographic, and neuroradiological features. New causes of encephalitis have been reported in recent years, so diagnostic criteria have changed over time.We report on a single-center...

Early extubation is considered to be beneficial for pre-term neonates. On the other hand, premature extubation can cause lung derecruitment, compromised gas exchange, and need for reintubation, which may be associated with severe brain injury caused by sudden cerebral blood flow changes. We used near infrared spectroscopy (NIRS) to investigate...

Context Since the COVID-19 outbreak, the number of girls with suspected precocious puberty has increased. Objective To compare the incidence of idiopathic central precocious puberty (ICPP) during COVID-19 with that of the previous 4 years. Methods Anthropometric, biochemical, and radiological parameters were collected between January 2016 and...

Context The etiology of central precocious puberty (CPP) includes a spectrum of conditions. Girls younger than age 6 years with CPP should undergo cranial magnetic resonance imaging (MRI), but it remains controversial whether all girls who develop CPP between the ages of 6 and 8 years require neuroimaging examination. Objective To investigate...

Children with congenital hypothyroidism (CH) are at risk for suboptimal neurodevelopment.