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Children are more sensitive to ionizing radiation than adults. Even though the risk is very low, exposure from radiological examinations can possibly cause them long-term side effects. Recent large epidemiological studies involving children and young adults have added evidence suggesting that even small doses of radiation, such as those from computed tomography scans, might slightly increase the risk of developing cancer later in life. Therefore, even though radiologic studies are essential for an accurate diagnosis and management of various conditions, it is crucial to minimize radiation exposure. This article addresses radiation protection for children in the medical use of ionizing radiation and it is set in the context of the European legislative framework regarding radiation protection. It advocates for a holistic approach to paediatric radiological tests. This approach includes the key principles of radiation protection, such as the justification of imaging procedures supported by referral guidelines, as well as the optimization of techniques (according to the ALARA principle) and effective communication with parents about the benefits and the risks of radiologic procedures. Protecting children from unnecessary radiation is not only a technical challenge, but also a moral obligation and a legal requirement.
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PURPOSE: Evaluate the agreement between bone age assessments conducted by two distinct machine learning system and standard Greulich and Pyle method. MATERIALS AND METHODS: Carpal radiographs of 225 patients (mean age 8 years and 10 months, SD = 3 years and 1 month) were retrospectively analysed at two separate institutions (October 2018 and May 2022) by both expert radiologists and radiologists in training as well as by two distinct AI software programmes, 16-bit AItm and BoneXpert® in a blinded manner. RESULTS: The bone age range estimated by the 16-bit AItm system in our sample varied between 1 year and 1 month and 15 years and 8 months (mean bone age 9 years and 5 months SD = 3 years and 3 months). BoneXpert® estimated bone age ranged between 8 months and 15 years and 7 months (mean bone age 8 years and 11 months SD = 3 years and 3 months). The average bone age estimated by the Greulich and Pyle method was between 11 months and 14 years, 9 months (mean bone age 8 years and 4 months SD = 3 years and 3 months). Radiologists' assessments using the Greulich and Pyle method were significantly correlated (Pearson's r > 0.80, p < 0.001). There was no statistical difference between BoneXpert® and 16-bit AItm (mean difference = - 0.19, 95%CI = (- 0.45; 0.08)), and the agreement between two measurements varies between - 3.45 (95%CI = (- 3.95; - 3.03) and 3.07 (95%CI - 3.03; 3.57). CONCLUSIONS: Both AI methods and GP provide correlated results, although the measurements made by AI were closer to each other compared to the GP method.
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BACKGROUND: Carnitine palmitoyltransferase II (CPT II) deficiency is a rare inborn error of mitochondrial fatty acid metabolism with autosomal recessive pattern of inheritance. Its phenotype is highly variable (neonatal, infantile, and adult onset) on the base of mutations of the CPT II gene. In affected subjects, long-chain acylcarnitines cannot be subdivided into carnitine and acyl-CoA, leading to their toxic accumulation in different organs. Neonatal form is the most severe, and all the reported patients died within a few days to 6 months after birth. Hereby, we report on a male late-preterm newborn who presented refractory cardiac arrhythmias and acute multiorgan (hepatic, renal, muscular) injury, leading to cerebral hemorrhage, hydrocephalus, cardiovascular failure and early (day 5 of life) to death. Subsequently, extended metabolic screening and target next generation sequencing (NGS) analysis allowed the CPT II deficiency diagnosis. CASE PRESENTATION: The male proband was born at 36+ 4 weeks of gestation by spontaneous vaginal delivery. Parents were healthy and nonconsanguineous, although both coming from Nigeria. Family history was unremarkable. Apgar score was 9/9. At birth, anthropometric measures were as follows: weight 2850 g (47th centile, -0.07 standard deviations, SD), length 50 cm (81st centile, + 0.89 SD) and occipitofrontal circumference (OFC) 35 cm (87th centile, + 1.14 SD). On day 2 of life our newborn showed bradycardia (heart rate around 80 bpm) and hypotonia, and was then transferred to the Neonatal Intensive Care Unit (NICU). There, he subsequently manifested many episodes of ventricular tachycardia, which were treated with pharmacological (magnesium sulfate) and electrical cardioversion. Due to the critical conditions of the baby (hepatic, renal and cardiac dysfunctions) and to guarantee optimal management of the arrythmias, he was transferred to the Pediatric Cardiology Reference Center of our region (Sicily, Italy), where he died 2 days later. Thereafter, the carnitines profile evidenced by the extended metabolic screening resulted compatible with a fatty acid oxidation defect (increased levels of acylcarnitines C16 and C18, and low of C2); afterwards, the targeted next generation sequencing (NGS) analysis revealed the known c.680 C > T p. (Pro227Leu) homozygous missense mutation of the CPTII gene, for diagnosis of CPT II deficiency. Genetic investigations have been, then, extended to the baby's parents, who were identified as heterozygous carriers of the same variant. When we meet again the parents for genetic counseling, the mother was within the first trimester of her second pregnancy. Therefore, we offered to the couple and performed the prenatal target NGS analysis on chorionic villi sample, which did not detect any alterations, excluding thus the CPT II deficiency in their second child. CONCLUSIONS: CPTII deficiency may be suspected in newborns showing cardiac arrhythmias, associated or not with hypertrophic cardiomyopathy, polycystic kidneys, brain malformations, hepatomegaly. Its diagnosis should be even more suspected and investigated in cases of increased plasmatic levels of creatine phosphokinase and acylcarnitines in addition to kidney, heart and liver dysfunctions, as occurred in the present patient. Accurate family history, extended metabolic screening, and multidisciplinary approach are necessary for diagnosis and adequate management of affected subjects. Next generation sequencing (NGS) techniques allow the identification of the CPTII gene mutation, essential to confirm the diagnosis before or after birth, as well as to calculate the recurrence risk for family members. Our report broads the knowledge of the genetic and molecular bases of such rare disease, improving its clinical characterization, and provides useful indications for the treatment of patients.
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Arritmias Cardíacas , Carnitina O-Palmitoiltransferasa , Carnitina O-Palmitoiltransferasa/deficiencia , Errores Innatos del Metabolismo , Recién Nacido , Adulto , Lactante , Niño , Femenino , Embarazo , Humanos , Masculino , Carnitina O-Palmitoiltransferasa/genética , Resultado Fatal , Arritmias Cardíacas/diagnóstico , Arritmias Cardíacas/genética , Arritmias Cardíacas/terapia , Ácidos Grasos , SiciliaRESUMEN
BACKGROUND: Endoscopic treatment of vesicoureteral reflux (VUR) is an important minimally invasive surgical approach in patients undergoing surgical treatment of VUR. In our past experience, we observed that a bulking agent mound sagittal diameter of 10 mm is the main predictor of effectiveness of the procedure. Moreover we noticed that the use of intraoperative ultrasound, allows the surgeon to better identify the site, volume and shape of the bulking agent injected, finally reducing operative time. OBJECTIVE: We aimed to evaluate if the intraoperative ultrasound assistance could definitively improve effectiveness of the endoscopic procedure. METHODS: We retrospectively compared two series treated with endoscopic procedures for intermediate and high grade primary VUR, respectively without (series A) and with (series B) intraoperative ultrasound (IO-US). In all patients VCUG was performed to assess VUR grade and to verify resolution or VUR downgrading during the follow-up. RESULTS: A total of 177 ureteric units were treated. Endoscopic procedures globally were effective in 68/96 ureters (70.8 %) in series A and in 68/81 ureters (83.9 %) in series B. No significant differences in effectiveness were observed comparing the series with regard to VUR grades, but a significant difference is shown (p < 0.05) when grouping grades III-V VUR. No significance in differences of volume injected were detected, but operative time was significantly lower in series B (27.5 min vs 19.6 min, p < 0.05). Mean sagittal mound diameter measured during cystoscopy in series B was 10.45 mm (range 8.5-14.2 mm). DISCUSSION: The intraoperative ultrasound assistance during endoscopic treatment of VUR could represent a valid tool for surgeons to better identify location, volume and shape of the bulking agent. Furthermore, the use of an objective parameter of evaluation of the implant can overcome the subjective intraoperative evaluation of the implant itself, improving results for experienced surgeons and reducing the learning-curve for inexperienced ones. CONCLUSIONS: Results of endoscopic injection of bulking-agent can be improved with intraoperative ultrasound, allowing at the same time a significant reduction of operative time.
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Reflujo Vesicoureteral , Niño , Humanos , Lactante , Estudios de Seguimiento , Reflujo Vesicoureteral/diagnóstico por imagen , Reflujo Vesicoureteral/cirugía , Estudios Retrospectivos , Resultado del Tratamiento , Cistoscopía/métodos , Ácido Hialurónico , DextranosRESUMEN
BACKGROUND: Tumors are rare in neonatal age. Congenital mesoblastic nephroma (CMN) is a usually benign renal tumor observed at birth, or in the first months of life. It may also be identified prenatally and associated with polyhydramnios leading to preterm delivery. Effective treatment is surgical in most cases, consisting in total nephrectomy. In literature, very few studies report on the neonatal management of such a rare disease, and even less are those describing its uncommon complications. CASES PRESENTATION: We report on two single-center newborns affected with CMN. The first patient is a preterm female baby, born at 30+ 1 weeks of gestation (WG) due to premature labor, with prenatal (25 WG) identification of an intra-abdominal fetal mass associated with polyhydramnios. Once obtained the clinical stability, weight gain, instrumental (computed tomography, CT, showing a 4.8 × 3.3 cm left renal neoformation) and histological/molecular characterization of the lesion (renal needle biopsy picture of classic CMN with ETV6-NTRK3 translocation), a left nephrectomy was performed at 5 weeks of chronological age. The following clinical course was complicated by intestinal obstruction due to bowel adherences formation, then by an enterocutaneous fistula, requiring multiple surgical approaches including transitory ileo- and colostomy, before the conclusive anastomoses intervention. The second patient is a 17-day-old male term baby, coming to our observation due to postnatal evidence of palpable left abdominal mass (soon defined through CT, showing a 7.5 × 6.5 cm neoformation in the left renal lodge), feeding difficulties and poor weight gain. An intravenous diuretic treatment was needed due to the developed hypertension and hypercalcemia, which regressed after the nephrectomy (histological diagnosis of cellular CMN with ETV6-NTRK3 fusion) performed at day 26. In neither case was chemotherapy added. Both patients have been included in multidisciplinary follow-up, they presently show regular growth and neuromotor development, normal renal function and no local/systemic recurrences or other gastrointestinal/urinary disorders. CONCLUSIONS: The finding of a fetal abdominal mass should prompt suspicion of CMN, especially if it is associated with polyhydramnios; it should also alert obstetricians and neonatologists to the risk of preterm delivery. Although being a usually benign condition, CMN may be associated with neonatal systemic-metabolic or postoperative complications. High-level surgical expertise, careful neonatological intensive care and histopathological/cytogenetic-molecular definition are the cornerstones for the optimal management of patients. This should also include an individualized follow-up, oriented to the early detection of any possible recurrences or associated anomalies and to a better quality of life of children and their families.
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Neoplasias Renales , Nefroma Mesoblástico , Polihidramnios , Nacimiento Prematuro , Recién Nacido , Lactante , Niño , Embarazo , Humanos , Femenino , Masculino , Nefroma Mesoblástico/diagnóstico , Nefroma Mesoblástico/cirugía , Estudios de Seguimiento , Calidad de Vida , Neoplasias Renales/diagnóstico , Neoplasias Renales/cirugía , RecurrenciaRESUMEN
Gastrointestinal stromal tumors (GISTs) arise from the interstitial cells of Cajal in the gastrointestinal tract and are the most common intestinal tumors. Usually GISTs are asymptomatic, especially small tumors that may not cause any symptoms and may be found accidentally on abdominal CT scans. Discovering of inhibitor of receptor tyrosine kinases has changed the outcome of patients with high-risk GISTs. This paper will focus on the role of imaging in diagnosis, characterization and follow-up. We shall also report our local experience in radiomics evaluation of GISTs.
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Neoplasias Gastrointestinales , Tumores del Estroma Gastrointestinal , Radiómica , Humanos , Tumores del Estroma Gastrointestinal/diagnóstico , Neoplasias Gastrointestinales/diagnóstico , Tomografía Computarizada por Rayos X/métodosRESUMEN
Cervical cancer is the fourth most common cancer in women, and it is divided into 2 main histological types: squamous cell carcinoma and adenocarcinoma. Extension of disease as well as the presence of metastases define the prognosis of patients. Accurate tumor staging at diagnosis is essential for adequate planning for treatment. There are several classifications of cervical cancer, and the most used are FIGO and TNM, which help classify the patient and guide the treatment. Imaging has a pivotal role in classifying patients, and MRI plays a decision-maker role both for diagnosis and for treatment planning. In this paper we highlight the role of MRI, alongside guidelines classification, in patients with different stages of cervical tumors.
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Carcinoma de Células Escamosas , Neoplasias del Cuello Uterino , Femenino , Humanos , Neoplasias del Cuello Uterino/diagnóstico por imagen , Neoplasias del Cuello Uterino/patología , Pronóstico , Estadificación de Neoplasias , Imagen por Resonancia Magnética/métodos , Carcinoma de Células Escamosas/diagnóstico por imagen , Carcinoma de Células Escamosas/patologíaRESUMEN
The present case-report empathizes the usefulness of post-mortem computed tomography (PMCT) in the detection of live birth signs in a baby found dead, comparing the results with standard autoptic, histologic and immunohistochemical examinations. The report describes the case of a new-born who was thrown out on the footpath from a window of the fifth floor according to the investigative police, whilst the mother has hidden herself immediately after childbirth. PMCT showed diffusely aerated lung parenchyma with signs of severe lung distress, air in the airways with no fluid inside, and air in the upper gastro-intestinal tract, in absence any resuscitation manoeuvres performed on the baby at delivery. PMCT underlined multiple fractures of the skull with degeneration of cerebral parenchyma. All these findings were confirmed by conventional autopsy and histological and immunohistochemical examinations, clinching the usefulness of PMCT in differentiating live births from stillbirths.
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Recien Nacido Prematuro , Tomografía Computarizada por Rayos X , Lactante , Femenino , Humanos , Recién Nacido , Autopsia/métodos , Patologia Forense/métodos , Tomografía Computarizada por Rayos X/métodos , HomicidioRESUMEN
Background: The newly adopted European directive DE59/2013 mandates adequate patient information in procedures involving ionising radiation. Patient interest in knowing about their radiation dose and an effective communication method for dose exposure remain poorly investigated. Purpose: This study is aimed at investigating both patient interest in radiation dose and an effective method to communicate radiation dose exposure. Material and methods: The present analysis is based on a multi-centre cross-sectional data collection involving 1,084 patients from four different hospitals â two general and two paediatric hospitals. Anonymous questionnaires were administered, consisting of an initial overview of radiation use in imaging procedures, a patient data section, and an explanatory section providing information in four modalities. Results: 1009 patients were included in the analysis, with 75 refusing participation; 173 participants were relatives of paediatric patients. Initial information provided to patients was considered comprehensible. The information modality with symbols was considered the most readily understandable format by patients, with no appreciable differences in comprehension attributable to social or cultural background. The modality including dose numbers and diagnostic reference levels was preferred by patients with higher socio-economic background. The option 'None of those' was selected by one-third of our sample population, composed of four different clusters: female, over 60 years old, unemployed, and from low socio-economic backgrounds. Conclusions: This study demonstrated a high level of interest amongst patients in knowing about radiation dose exposure. Pictorial representations were well understood by patients from a variety of different ages and education levels. However, a universally comprehensible model of communicating radiation dose information remains to be elucidated.
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The investigation of bone injuries is an essential topic in forensics. We sometimes have to deal with charred or dismembered human remains that have lost soft tissue, making it difficult to diagnose the mechanisms of injury that led to death. Our contribution aims to share with the scientific community how we approached two cases of very different bone injuries and the techniques used to differentiate relevant pathology findings of bone fragments. Two cases are analyzed from the case history of the forensic medicine institute of Palermo. PMCT made it possible to differentiate heat bone lesions from traumatic lesions. The stereomicroscope was superior to PMCT in being able to better characterize and evaluate shear injuries, allowing a more accurate measurement of acute lesions. Injury to bone remains can be appropriately investigated with rapid techniques such as PMCT and stereomicroscopy. The presented methodology shows the importance of a multidisciplinary approach when dealing with bone injuries in forensics that could find further applications in other circumstances to answer forensic questions.
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OBJECTIVE: To identify the best method among the radiologic, laparoscopic and laparotomic scoring assessment to predict the outcomes of cytoreductive surgery in patients with advanced ovarian cancer (AOC). METHODS: Patients with AOC who underwent pre-operative computed tomography (CT) scan, laparoscopic evaluation, and cytoreductive surgery between August 2016 and February 2021 were retrospectively reviewed. Predictive Index (PI) score and Peritoneal Cancer Index (PCI) scores were used to estimate the tumor load and predict the residual disease in the primary debulking surgery (PDS) and interval debulking surgery (IDS) after neoadjuvant chemotherapy (NACT) groups. Concordance percentages were calculated between the two scores. RESULTS: Among 100 eligible patients, 69 underwent PDS, and 31 underwent NACT and IDS. Complete cytoreduction was achieved in 72.5% of patients in the PDS group and 77.4% in the IDS. In patients undergoing PDS, the laparoscopic PI and the laparotomic PCI had the best accuracies for complete cytoreduction (R0) [area under the curve (AUC) = 0.78 and AUC = 0.83, respectively]. In the IDS group, the laparotomic PI (AUC = 0.75) and the laparoscopic PCI (AUC= 0.87) were associated with the best accuracy in R0 prediction. Furthermore, radiological assessment, through PI and PCI, was associated with the worst accuracy in either PDS or IDS group (PI in PDS: AUC = 0.64; PCI in PDS: AUC = 0.64; PI in IDS: AUC = 0.46; PCI in IDS: AUC = 0.47). CONCLUSION: The laparoscopic score assessment had high accuracy for optimal cytoreduction in AOC patients undergoing PDS or IDS. Integrating diagnostic laparoscopy in the decision-making algorithm to accurately triage AOC patients to different treatment strategies seems necessary.
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BACKGROUND: Congenital syphilis (CS) depends on the placental transmission of Treponema pallidum (TP) spirochetes from an infected mother to fetus during pregnancy. It shows a wide clinical variability with cutaneous and visceral manifestations, including stillbirths, neonatal death, and asymptomatic cases. Preterm infants with CS may have more severe features of disease than the term ones, due to the combined pathogenic effect of both CS and prematurity. CASE PRESENTATION: We report on a female preterm (32+6 weeks of gestation) newborn showing most of the typical CS manifestations, in addition to gastrointestinal disorders including feeding difficulties, colon stenosis and malabsorption leading to postnatal growth restriction. The mother resulted positive at the syphilis screening test of the first trimester of pregnancy, but she did not undergo any treatment. At birth, our newborn was VDRL positive (antibody titer four times higher compared to the mother), and she was treated with intravenous benzathine benzylpenicillin G for 10 days (50,000 IU/Kg three times per day). Poor tolerance to enteral nutrition (abdominal distension, increased biliary type gastric secretions) was observed. A barium enema X-Ray identified a colon stenosis within the descending tract. However, the poor general conditions due to a concurrent fungal sepsis did not allow to perform any surgical procedure, and a conservative approach with total parenteral nutrition was started. The following evolution was marked by difficulties in enteral feeding including refusal of food and vomiting, to which also contributed the neurological abnormalities related to a perinatal asphyxia, and the affective deprivation for the physical absence of the mother during hospitalization. At 5 months of age, after the introduction of an amino acid-based formula (Neocate LCP Nutricia ®), an improvement of enteral feeding was observed, with no further and significantly decreased episodes of abdominal distension and vomiting respectively, and regular stool emission. A psychological support offered to the family allowed a more stable bond between the mother and her baby, thus providing a significant additional benefit to food tolerance and growth. She was discharged at 5 months of age, and included in a multidisciplinary follow-up. She at present shows global growth delay, and normal development apart from mildly increased tone of lower limbs. CONCLUSIONS: Our report highlights less common clinical CS manifestations like gastrointestinal disorders including feeding difficulties, colon stenosis and malabsorption leading to postnatal growth delay. Moreover, it underlines how prematurity may worsen the clinical evolution of such congenital infection, due to the additional pathogenic effect of possible associated diseases and/or conditions like sepsis, hypoxic/ischemic injury, or use of drugs. CS may be observed also in high-income countries, with high rates of antenatal screening and availability of prenatal treatment. A multidisciplinary network must be guaranteed to the affected subjects, to ensure adequate care and improve the quality of life for patients and their families.
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Enfermedades Gastrointestinales , Enfermedades del Recién Nacido , Sepsis , Sífilis Congénita , Lactante , Recién Nacido , Humanos , Femenino , Embarazo , Sífilis Congénita/complicaciones , Sífilis Congénita/diagnóstico , Sífilis Congénita/terapia , Recien Nacido Prematuro , Calidad de Vida , Constricción Patológica , Placenta , VómitosRESUMEN
BACKGROUND: Osteopathia Striata with Cranial Sclerosis (OS-CS), also known as Horan-Beighton Syndrome, is a rare genetic disease; about 90 cases have been reported to date. It is associated with mutations (heterozygous for female subjects and hemizygous for males) of the AMER1 gene, located at Xq11.2, and shows an X-linked pattern of transmission. Typical clinical manifestations include macrocephaly, characteristic facial features (frontal bossing, epicanthal folds, hypertelorism, depressed nasal bridge, orofacial cleft, prominent jaw), hearing loss and developmental delay. Males usually present a more severe phenotype than females and rarely survive. Diagnostic suspicion is based on clinical signs, radiographic findings of cranial and long bones sclerosis and metaphyseal striations, subsequent genetic testing may confirm it. CASE PRESENTATION: Hereby, we report on a female newborn with frontal and parietal bossing, narrow bitemporal diameter, dysplastic, low-set and posteriorly rotated ears, microretrognathia, cleft palate, and rhizomelic shortening of lower limbs. Postnatally, she manifested feeding intolerance with biliary vomiting and abdominal distension. Therefore, in the suspicion of bowel obstruction, she underwent surgery, which evidenced and corrected an intestinal malrotation. Limbs X-ray and skull computed tomography investigations did not show cranial sclerosis and/or metaphyseal striations. Array-CGH analysis revealed normal findings. Then, a target next generation sequencing (NGS) analysis, including the genes involved in skeletal dysplasias, was performed and revealed a de novo heterozygous nonsense mutation of the AMER1 gene. The patient was discharged at 2 months of age and included in a multidisciplinary follow-up. Aged 9 months, she now shows developmental and growth (except for relative macrocephaly) delay. The surgical correction of cleft palate has been planned. CONCLUSIONS: Our report shows the uncommon association of intestinal malrotation in a female newborn with OS-CS. It highlights that neonatologists have to consider such a diagnosis, even in absence of cranial sclerosis and long bones striations, as these usually appear over time. Other syndromes with cranial malformations and skeletal dysplasia must be included in the differential diagnosis. The phenotypic spectrum is wide and variable in both genders. Due to variable X-inactivation, females may also show a severe and early-onset clinical picture. Multidisciplinary management and careful, early and long-term follow-up should be offered to these patients, in order to promptly identify any associated morbidities and prevent possible complications or adverse outcomes.
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Enfermedades Óseas , Labio Leporino , Fisura del Paladar , Megalencefalia , Femenino , Masculino , Humanos , Recién Nacido , Codón sin Sentido , Esclerosis , Proteínas Supresoras de Tumor/genética , Proteínas Adaptadoras Transductoras de Señales/genéticaRESUMEN
Purpose: The primary objective was to assess the frequency of appropriateness of computed tomography (CT) for acute abdominal pain (AAP) in the emergency department; the secondary aim was to compare the diagnostic accuracy of ultra-sound (US) and CT in the diagnosis of the aetiology of AAP for diseases that can be diagnosed by US; and the third objective was to assess extent to which inappropriate CT examinations for AAP result in ionizing radiation exposure. Material and methods: In this retrospective single-centre study, we included patients aged between 15 and 46 years referred to the emergency department for AAP in 2016 and submitted to abdominal CT scans, collecting a total of 586 patients. In 152 patients with the more frequent pathologies, we compared the referral reason and current guidelines of the European Society of Radiology (ESR) IGUIDE®. Then we measured and compared the sensitivity of US and CT for the identification of the aetiology of AAP for diseases whose diagnosis can be reached by US. We also recorded the mean computed tomography dose index (CTDIvol), dose length product (DLP) and its standard deviation, and we calculated the effective dose (ED) using CT-Expo® software. Results: According to IGUIDE and based on the clinical suspicion of CT requests, CT examination was considered crucial in 264 (45.05%) patients. 322 patients had a referral reason for CT scan that could be considered "possibly appropriate" according Iguide criteria (4, 5, 6 scoring). Of these, 135 had an inappropriate CT request according to image findings. Conclusions: A better clinical framing and a correct interpretation of the reference guidelines could reduce unjustified exposure to ionizing radiation.
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BACKGROUND: Rearrangements of unstable DNA sequences may alter the structural integrity or the copy number of dose-sensitive genes, resulting in copy number variations. They may lead more frequently to deletions, in addition to duplications and/or inversions, which are the underlying pathogenic mechanism of a group of conditions known as genomic disorders (or also contiguous gene syndromes). Interstitial deletions of the short arm of chromosome 1 are rare, and only about 30 patients have been reported. Their clinical features are variable, in respect of the extent of the deleted region. They include global developmental delay, central nervous system (CNS) malformations, craniosynostosis, dysmorphic face, ocular defects, cleft palate, urinary tract anomalies and hand/foot abnormalities. CASE PRESENTATION: Hereby, we report on an Italian female newborn with craniosynostosis, facial dysmorphisms including bilateral microphthalmia and coloboma, cleft palate, and a severe global developmental and growth delay, associated to a 1p31.3p22.2 deletion of 20.7 Mb. This was inherited from the healthy mother, who was carrier of a smaller (2.6 Mb) deletion included within the centromeric region (1p22.3p22.2) of the same rearrangement, in addition to a translocation between chromosomes 1p and 4q. The deleted region of the proband contains about ninety genes. We focus on the genotype-phenotype correlations. CONCLUSIONS: The results of the present study further confirm that microdeletions at 1p31.3 constitute a contiguous gene syndrome. It is hard to establish whether the critical rearrangement of such syndrome may involve the centromeric band p22.3p22.2, or more likely do not, also in light of the genomic profile of the healthy mother of our patient. Neonatologists and pediatricians should take into consideration 1p31 microdeletion in cases of developmental and growth delay associated to craniosynostosis, peculiar facial dysmorphisms, cleft palate and hand/foot abnormalities. The present report provides new data about 1p31 microdeletion syndrome, in view of a better characterization of its genomic and phenotypic profile.
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Fisura del Paladar , Coloboma , Craneosinostosis , Deleción Cromosómica , Cromosomas Humanos Par 1/genética , Fisura del Paladar/diagnóstico , Fisura del Paladar/genética , Coloboma/diagnóstico , Coloboma/genética , Hibridación Genómica Comparativa , Craneosinostosis/diagnóstico , Craneosinostosis/genética , Variaciones en el Número de Copia de ADN , Femenino , Genómica , Humanos , FenotipoRESUMEN
INTRODUCTION: The motor vehicle crash (MVC) constitutes an important challenge for forensic pathology in order to identify the manner and cause of death. Our study focuses on a fatal accident during a rally race corresponding to MVC sub-category. MATERIALS AND METHOD: Postmortem computed tomography (PMCT) was performed before the conventional autopsy. Autoptic and PMCT data were compared. Data collection allowed analyzing biomechanical dynamics of the incident and post-traumatic injuries through qualitative-statistics and solicitation quantitative indices. RESULTS: Photo and circumstantial evidence analysis showed a wrong installation of double shoulder belt system of head and neck support (HANS) collar. PMTC clearly highlighted multiple and bilateral fractures involving roof and base of skull; a displaced fracture of the right acetabulum was also encountered. Autopsy confirmed PMCT data and revealed a brainstem laceration. AIS (Abbreviated Injury Scale) achieved a maximum score in consideration of fatal injuries. DISCUSSION: The injuries analysis resulting from photographic surveys examination, conventional autopsy, and PMCT has led us to confirm a fatal front collision with a tree trunk. Head trauma represents a major injury in the present case. In this case, head injuries, related to whiplash trauma, are a consequence of a double shoulder belt system (HANS collar component) wrong installation. CONCLUSION: MVC and especially high-speed motor racing represent an important death cause. There was, for this reason, a marked development of cars and occupants' safety systems, such as HANS collar. PMCT improves the diagnostic performance of conventional autopsy and increases forensic medical knowledge related to traumatic injuries.
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Traumatismos en Atletas/patología , Autopsia/métodos , Traumatismos Craneocerebrales/patología , Patologia Forense , Fracturas Óseas/patología , Vehículos a Motor , Escala Resumida de Traumatismos , Fenómenos Biomecánicos , Resultado Fatal , Humanos , Masculino , Equipos de Seguridad , Tomografía Computarizada por Rayos XRESUMEN
BACKGROUND: In the recent years, clinical progress and better medical assistance for pregnant women, together with the introduction of new complex technologies, has improved the survival of preterm infants. However, this result requires frequent radiological investigations mostly represented by thoracic and abdominal radiographs in incubators. This document was elaborated by an expert panel Italian inter-society working group (Radiologists, Paediatricians, Medical Physicists) with the aim to assist healthcare practitioners in taking choices involving radiation exposures of new-born infants and to provide practical recommendations about justification and optimization in Neonatal Intensive Care Units. The adherence to these practice recommendations could ensure a high quality and patient safety. More complex and less common radiological practice, such as CT scan or fluoroscopy have been excluded. METHODS: The consensus was reached starting from current good practice evidence shared by four scientific societies panel: AIFM (Italian Association of Physics in Medicine), SIN (Italian Neonatology Society), SIP (Italian Paediatric Society), SIRM (Italian Medical Radiology Society) in order to guarantee good standard practices for every professional involved in Neonatal Intensive Care Units (NICU). The report is divided into clinical and physical-dosimetric sections: clinical Indications, good practice in radiological exposures, devices, exposure parameters and modalities, patient positioning and immobilization, Reference Diagnostic Levels, operators and patient's radiation protection. Another important topic was the evaluation of the different incubators in order to understand if the consequences of the technological evolution have had an impact on the increase of the dose to the small patients, and how to choose the best device in terms of radiation protection. At the end the working group faced the problem of setting up the correct communication between clinicians and parents following the most recent indications of the international paediatric societies. RESULTS: Taking into account the experience and expertise of 10 Italian Centres, the guideline sets out the criteria to ensure a high standard of neonatal care in NICU about procedures, facilities, recommended equipment, quality assurance, radiation protection measures for children and staff members and communication on radiation risk. CONCLUSIONS: This document will allow a standardization of the approach to the exposures in NICU, although oriented to a flexible methodology.
Asunto(s)
Unidades de Cuidado Intensivo Neonatal , Exposición a la Radiación/prevención & control , Protección Radiológica/normas , Consenso , Humanos , Recién Nacido , Recien Nacido Prematuro , Italia , Posicionamiento del Paciente , Sociedades MédicasRESUMEN
Body composition assessment (BCA) represents a valid instrument to evaluate nutritional status through the quantification of lean and fat tissue, in healthy subjects and sick patients. According to the clinical indication, body composition (BC) can be assessed by different modalities. To better analyze radiation risks for patients involved, BCA procedures can be divided into two main groups: the first based on the use of ionizing radiation (IR), involving dual energy X-ray absorptiometry (DXA) and computed tomography (CT), and others based on non-ionizing radiation (NIR) [magnetic resonance imaging (MRI)]. Ultrasound (US) techniques using mechanical waves represent a separate group. The purpose of our study was to analyze publications about IR and NIR effects in order to make physicians aware about the risks for patients undergoing medical procedures to assess BCA providing to guide them towards choosing the most suitable method. To this end we reported the biological effects of IR and NIR and their associated risks, with a special regard to the excess risk of death from radio-induced cancer. Furthermore, we reported and compared doses obtained from different IR techniques, giving practical indications on the optimization process. We also summarized current recommendations and limits for techniques employing NIR and US. The authors conclude that IR imaging procedures carry relatively small individual risks that are usually justified by the medical need of patients, especially when the optimization principle is applied. As regards NIR imaging procedures, a few studies have been conducted on interactions between electromagnetic fields involved in MR exam and biological tissue. To date, no clear link exists between MRI or associated magnetic and pulsed radio frequency (RF) fields and subsequent health risks, whereas acute effects such as tissue burns and phosphenes are well-known; as regards the DNA damage and the capability of NIR to break chemical bonds, they are not yet robustly demonstrated. MRI is thus considered to be very safe for BCA as well US procedures.