0000000000615219

AUTHOR

Maria Pia Pappalardo

showing 5 related works from this author

Congenital emphysematous lung disease associated with a novel Filamin A mutation. Case report and literature review

2019

Abstract Background Progressive lung involvement in Filamin A (FLNA)-related cerebral periventricular nodular heterotopia (PVNH) has been reported in a limited number of cases. Case presentation We report a new pathogenic FLNA gene variant (c.7391_7403del; p.Val2464Alafs*5) in a male infant who developed progressive lung disease with emphysematous lesions and interstitial involvement. Following lobar resection, chronic respiratory failure ensued necessitating continuous mechanical ventilation and tracheostomy. Cerebral periventricular nodular heterotopia was also present. Conclusions We report a novel variant of the FLNA gene, associated with a severe lung disorder and PNVH. The lung disord…

Lung DiseasesMalePathologymedicine.medical_specialtyFilaminsmedicine.medical_treatmentChildren; Congenital enphysema; Filamin a; Lung disease; Periventricular nodular heterotopiaCase ReportFilaminKeywords: Filamin a Congenital enphysema Lung disease Children Periventricular nodular heterotopiaFilamin aLung Disorder03 medical and health sciences0302 clinical medicineNeuroimagingLoss of Function Mutation030225 pediatricsmedicineHumansFLNA030212 general & internal medicineLungChildrenCongenital enphysemaGenetic testingMechanical ventilationLungmedicine.diagnostic_testbusiness.industrylcsh:RJ1-570BrainInfantlcsh:Pediatricsrespiratory systemRespiration ArtificialPeriventricular nodular heterotopiamedicine.anatomical_structurePulmonary EmphysemaRespiratory failureLung diseasePediatrics Perinatology and Child HealthRadiography ThoracicRespiratory InsufficiencyTomography X-Ray ComputedbusinessBMC Pediatrics
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Preliminary Experience with a Novel System of Facet Fixation to Treat Patients with Lumbar Degenerative Disease. A New Perspective in Minimally Invas…

2017

Purpose We report our experience with a novel surgical device for the treatment of lumbar degenerative microinstability. Facet Wedge (DePuy Synthes, Raynham, Massachusetts, United States) is a novel technique of intra-articular lumbar facet fixation that provides a minimally invasive alternative to standard posterior fixation. Materials and Methods From November 2014 to July 2015, 38 patients underwent single-level Facet Wedge implantation. The main surgical indications included herniated disk (18 patients), spinal canal and foraminal stenosis (14 patients), and Meyerding grade I degenerative spondylolisthesis (6 patients). All the patients showed radiologic signs of microinstability: hype…

musculoskeletal diseasesMalemicroinstabilitymedicine.medical_specialtyfacet wedgedegenerative lumbar diseaseRadiographyIntervertebral Disc DegenerationZygapophyseal Joint03 medical and health sciencesFixation (surgical)0302 clinical medicineLumbarDegenerative diseasemedicineHumansMinimally Invasive Surgical ProceduresSpinal canal030212 general & internal medicineHerniated diskAgedLumbar Vertebraemedicine.diagnostic_testSettore MED/27 - Neurochirurgiabusiness.industryMagnetic resonance imagingMiddle Agedmedicine.diseaseOswestry Disability IndexSurgerymedicine.anatomical_structureSpinal FusionTreatment Outcomefacet fluid signalSurgeryFemaleNeurology (clinical)facet fusionSpondylolisthesisbusiness030217 neurology & neurosurgeryIntervertebral Disc DisplacementJournal of neurological surgery. Part A, Central European neurosurgery
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Spontaneous Resorption of an Occipital Meningocele: Computed Tomography and Magnetic Resonance Imaging Evaluation

2016

Cranial meningocele is a very rare variant of encephalocele. Meningocele can be associated with other disorders and may cause complications. Therapy is usually based on surgical treatment. To our knowledge, we describe the first case of spontaneous resorption of an occipital meningocele in a full-term newborn boy. A full-term newborn was noted to have a large non-skin covered, semitransparent cystic lump in the occipital bone. He underwent computed tomography and a diagnosis of meningocele was proposed. After a few hours, the cystic lump spontaneously readsorbed. After 1 week the patient underwent magnetic resonance. Histology confirmed the diagnosis.

medicine.medical_specialtymedicine.diagnostic_testbusiness.industryOccipital boneMeningescomputed tomographyMagnetic resonance imagingmedicine.diseaseCranial MeningoceleResorptionEncephalocelemagnetic resonancesurgerySkullmedicine.anatomical_structurePediatrics Perinatology and Child Healthoccipital meningocelemedicineHistopathologyNeurology (clinical)Radiologymeningocelebusinessencephalocelecomputed tomography; encephalocele; magnetic resonance; meningocele; occipital meningocele; surgery; Pediatrics Perinatology and Child Health; Neurology (clinical)Journal of Pediatric Neurology
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Sequential boost in neoadjuvant irradiation for T3N0-1 rectal cancer: long-term results from a single-center experience.

2016

Purpose To evaluate the influence of radiation dose on tumor regression grade (TRG) and sphincter preservation rate in a series of cT3N0-1 rectal cancer patients treated with neoadjuvant chemoradiotherapy (CT-RT) with or without a sequential radiation boost. Materials and methods Between May 2002 and September 2013, 116 cases were eligible for retrospective evaluation. Radiotherapy was delivered for a total dose of 45 Gy (no boost arm) or 50.4 Gy (boost arm). TRG was evaluated with the Dworak scale. Results Median follow-up was 62 months (range, 12-138 months). The 5-year overall survival and local control rates were 72% and 93%, respectively. Fifty-five patients (47%) were treated with a s…

MaleCancer ResearchTime FactorsTumor downsizingColorectal cancermedicine.medical_treatmentAnal CanalKaplan-Meier EstimateSingle Center030218 nuclear medicine & medical imaging0302 clinical medicineAdjuvantNeoadjuvant therapyDigestive System Surgical ProceduresTumor Regression GradeIleostomyMedicine (all)Colorectal cancer; Radiation therapy; Tumor downsizing; Adenocarcinoma; Adult; Aged; Anal Canal; Antineoplastic Agents; Capecitabine; Chemoradiotherapy; Digestive System Surgical Procedures; Female; Fluorouracil; Follow-Up Studies; Gastrointestinal Tract; Humans; Ileostomy; Kaplan-Meier Estimate; Male; Middle Aged; Neoadjuvant Therapy; Neoplasm Staging; Organ Sparing Treatments; Radiotherapy Dosage; Radiotherapy Adjuvant; Rectal Neoplasms; Retrospective Studies; Time Factors; Treatment Outcome; Urogenital System; Medicine (all); Oncology; Cancer ResearchRadiotherapy DosageGeneral MedicineChemoradiotherapyMiddle AgedNeoadjuvant TherapyRadiation therapyTreatment OutcomeOncology030220 oncology & carcinogenesisFemaleRadiologyFluorouracilmedicine.drugAdultmedicine.medical_specialtyUrogenital SystemAntineoplastic AgentsAdenocarcinomaCapecitabine03 medical and health sciencesmedicineHumansCapecitabineAgedNeoplasm StagingRetrospective StudiesRadiotherapybusiness.industryRectal Neoplasmsmedicine.diseaseColorectal cancerRadiation therapyGastrointestinal TractConcomitantRadiotherapy AdjuvantbusinessOrgan Sparing TreatmentsChemoradiotherapyFollow-Up StudiesTumori
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Neonatal hyperinsulinemic hypoglycemia: case report of kabuki syndrome due to a novel KMT2D splicing-site mutation

2020

Abstract Background Persistent neonatal hypoglycemia, owing to the possibility of severe neurodevelopmental consequences, is a leading cause of neonatal care admission. Hyperinsulinemic hypoglycemia is often resistant to dextrose infusion and needs rapid diagnosis and treatment. Several congenital conditions, from single gene defects to genetic syndromes should be considered in the diagnostic approach. Kabuki syndrome type 1 (MIM# 147920) and Kabuki syndrome type 2 (MIM# 300867), can be associated with neonatal hyperinsulinemic hypoglycemia. Patient presentation We report a female Italian (Sicilian) child, born preterm at 35 weeks gestation, with persistent hypoglycemia. Peculiar facial dys…

0301 basic medicineHeterozygotePediatricsmedicine.medical_specialtyFacial dysmorphismNeonatal hypotoniaCase ReportHypoglycemiamedicine.disease_causeDiagnosis DifferentialNervous system malformation03 medical and health sciences0302 clinical medicineHyperinsulinismmedicineHumansAbnormalities MultipleHyperinsulinemic hypoglycemiaPathologicalbusiness.industryNeonatal hypoglycemiaInfant Newbornlcsh:RJ1-570lcsh:Pediatricsmedicine.diseaseHematologic DiseasesNeoplasm ProteinsDNA-Binding ProteinsPhenotype030104 developmental biologyNeonatal hypotoniaItalyVestibular DiseasesFaceMutationGestationFemalebusinessHyperinsulinismKabuki syndromeInfant PrematureNeonatal hypoglycemia030217 neurology & neurosurgeryItalian Journal of Pediatrics
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