Palazzo Lombardia is one of the tallest buildings in Milan and the site of the regional government. For these reasons, some years ago a monitoring system was installed in order to assure its continuous operation. The system is based on accelerometers and clinometers at different floors used for dynamic and static monitoring, respectively. A statistical model was developed, such that the time trend of the first eigenfrequencies of the building were modelled through the trend of the clinometer signals and the root mean square (RMS) of some of the accelerometers. This because it was observed that the clinometer signals and the acceleration RMSs are linked to different environmental variables. As examples: the changes of the static configuration of the building due to sun exposure can be described by clinometer signals and acceleration RMSs can take into account the effect of wind. The use of these signals and indexes simplifies the development of the predictive model, compared to the use of measured environmental quantities. The model showed good performances in foreseeing the trend of the first eigenfrequencies. This paper analyses how the reliability of the model, developed with data acquired in 2015–2016, has changed relying on new data acquired in 2021–2022.
It is expected that diseases are likely to spread to newer areas, and high-income countries may experience some illnesses that may have been restricted to low or middle-income countries. In addition, following the Intergovernmental Panel on Climate Change, the present study noted that climate change is likely to have many effects on the spatial and temporal distribution of malaria in many Sub-Saharan African countries. This study examines climate change effects on the geographical distribution of malaria occurrence and how extreme climatic events may perhaps be determining factors in the range of vectors for human diseases in SSA in the nearest future. Here, the study appraisals the symbiotic connection of (1) malaria transmission and association with the changes in temperature, rainfall, and humidity as well as their extremes in SSA and (2) the relationship between climate and malaria with the role of climate change in determining upsurge in malaria and meningitis occurrences in the SSA. The study concludes that major drivers of malaria occurrence are climatic elements such as precipitation and temperature. Therefore, we call for a better early Warning System on a proposed roadmap solution for Sub-Saharan Africa.
Endovascular aneurysm repair (EVAR) is a minimally invasive treatment proposed as an alternative to open repair in patients with abdominal aortic aneurysms. EVAR consists in a stent-graft placement within the aorta in order to exclude the aneurysm from arterial circulation and reduce the risk of rupture. Knowledge of the various types of devices is mandatory because some stents/grafts are more frequently associated with complications. CT angiography is the gold standard diagnostic technique for preprocedural planning and postprocedural surveillance. EVAR needs long-term follow-up due to the high rate of complications. Complications can be divided in endograft device-related and systemic complications. The purpose of this article is to review the CT imaging findings of EVAR complications and the key features for the diagnosis.
Background Warmblood fragile foal syndrome (WFFS) is a monogenetic defect caused by a recessive lethal missense point mutation in the procollagen‐lysine, 2‐oxoglutarate 5‐dioxygenase 1 gene ( PLOD1 , c.2032G>A). The majority of homozygous WFFS horses are aborted during gestation. Clinical signs of affected horses include fragile skin, skin and mucosa lacerations, hyperextension of the articulations, and hematomas. In spite of its harmful effect, a relatively high frequency of WFFS carriers has been found in Warmblood horses, suggesting a heterozygote advantage. Thus, in this study our aims were to: (1) estimate the frequency of WFFS carriers in the Swedish Warmblood breed (SWB), (2) estimate the effect of WFFS carrier genotype on performance traits in two SWB subpopulations bred for different disciplines, and (3) simulate the potential effects of balancing selection and different selection strategies on the frequency of carriers. Methods In total, 2288 SWB sport horses born between 1971 and 2020 were tested for the WFFS mutation and had estimated breeding values (EBV) for ten traditional evaluating and 50 linear descriptive traits. Results The frequency of WFFS carriers calculated from a pool of 511 randomly selected SWB horses born in 2017 was equal to 7.4% and ranged from 0.0 to 12.0% among the whole set of tested SWB horses, starting from 1971 till 2020. The effect of the WFFS carrier genotype was significant for several EBV mainly related to movements and dressage traits and especially for horses not bred for the show jumping discipline. Using simulation, we showed that balancing selection can maintain a recessive lethal allele in populations such as the SWB breed over generations and that the frequency is expected to slowly decrease in absence of balancing selection. Finally, we showed that selection against carrier sires can result in a more rapid decrease of the frequency of the mutant allele over time. Conclusion Further research is needed to confirm the apparent association between equine performance and the WFFS carrier genotype. Identification of such associations or new causative mutations for horse performance traits can serve as new tools in horse breeding to select for healthy, sustainable, and better performing horses.
Background The aim of this document is to support clinical decision-making concerning positioning and mobilization of the critically ill patient in the early identification and resolution of risk factors (primary prevention) and in the early recognition of those most at risk (secondary prevention). The addresses of this document are physicians, nurses, physiotherapists, and other professionals involved in patient positioning in the intensive care unit (ICU). Methods A consensus pathway was followed using the Nominal Focus Group and the Delphi Technique, integrating a phase of focused group discussion online and with a pre-coded guide to an individual phase. A multidisciplinary advisory board composed by nine experts on the topic contributed to both the phases of the process, to reach a consensus on four clinical questions positioning and mobilization of the critically ill patient. Results The topics addressed by the clinical questions were the risks associated with obligatory positioning and therapeutic positions, the effective interventions in preventing pressure injuries, the appropriate instruments for screening for pressure injuries in the ICU, and the cost-effectiveness of preventive interventions relating to ICU positioning. A total of 27 statements addressing these clinical questions were produced by the panel. Among the statements, nine provided guidance on how to manage safely some specific patients’ positions, including the prone position; five suggested specific screening tools and patients’ factors to consider when assessing the individual risk of developing pressure injuries; five gave indications on mobilization and repositioning; and eight focused on the use of devices, such as positioners and preventive dressings. Conclusions The statements may represent a practical guidance for a broad public of healthcare professionals involved in the management of critically ill patients.
Background Alternating of Childhood (AHC) is an uncommon and complex disorder characterized by age of onset before 18 months with recurrent hemiplegia of one or either sides of the body or quadriplegia. The disorder is mainly caused by mutations in ATP1A3 gene, and to a lesser extent in ATP1A2 gene. In AHC neurological co-morbidities are various and frequently reported including developmental delay, epilepsy, tonic or dystonic spells, nystagmus,autonomic manifestations with intrafamilial variability. Case presentation Clinical and genetic findings of a couple of twins (Family 1: Case 1 and Case 2) and a couple of siblings (Family 2: Case 3 and Case 4) coming from two different Italian families affected by AHC were deeply examined. In twins of Family 1, a pathogenic variant in ATP1A3 gene (c.2318A>G) was detected. In siblings of Family 2, the younger brother showed a novel GRIN2A variant (c.3175 T > A), while the older carried the same GRIN2A variant, and two missense mutations in SCNIB (c.632 > A) and KCNQ2 (1870 G > A) genes. Clinical manifestations of the four affected children were reported along with cases of AHC drawn from the literature. Conclusions Hemiplegic episode is only a sign even if the most remarkable of several and various neurological comorbidities in AHC affected individuals. Molecular analysis of the families here reported showed that clinical features of AHC may be also the result of an unexpected genetic heterogeneity.
Network dismantling has recently gained interest in the fields of intelligence agencies, anti-corruption analysts and criminal investigators due to its efficiency in disrupting the activity of malicious agents. Here, we apply this approach to detect effective strategies for targeted attacks to Cosa Nostra by analysing the collaboration network of affiliates that participate to the same crimes. We preliminarily detect statistically significant homophily patterns induced by being member of the same mafia syndicate. We also find that links between members belonging to different mafia syndicates play a crucial role in connecting the network into a unique component, confirming the relevance of weak ties. Inspired by this result we investigate the resilience properties of the network under random and targeted attacks with a percolation based toy model. Random removal of nodes results to be quite inefficient in dismantling the network. Conversely, targeted attacks where nodes are removed according to ranked network centralities are significantly more effective. A strategy based on a removal of nodes that takes into account how much a member collaborates with different mafia syndicates has an efficiency similar to the one where nodes are removed according to their degree. The advantage of such a strategy is that it does not require a complete knowledge of the underlying network to be operationally effective.
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.
Background: Excessive inspiratory effort could translate into self-inflicted lung injury, thus worsening clinical outcomes of spontaneously breathing patients with acute respiratory failure (ARF). Although esophageal manometry is a reliable method to estimate the magnitude of inspiratory effort, procedural issues significantly limit its use in daily clinical practice. The aim of this study is to describe the correlation between esophageal pressure swings (ΔPes) and nasal (ΔPnos) as a potential measure of inspiratory effort in spontaneously breathing patients with de novo ARF. Methods: From January 1, 2021, to September 1, 2021, 61 consecutive patients with ARF (83.6% related to COVID-19) admitted to the Respiratory Intensive Care Unit (RICU) of the University Hospital of Modena (Italy) and candidate to escalation of non-invasive respiratory support (NRS) were enrolled. Clinical features and tidal changes in esophageal and nasal pressure were recorded on admission and 24 h after starting NRS. Correlation between ΔPes and ΔPnos served as primary outcome. The effect of ΔPnos measurements on respiratory rate and ΔPes was also assessed. Results: ΔPes and ΔPnos were strongly correlated at admission (R2 = 0.88, p < 0.001) and 24 h apart (R2 = 0.94, p < 0.001). The nasal plug insertion and the mouth closure required for ΔPnos measurement did not result in significant change of respiratory rate and ΔPes. The correlation between measures at 24 h remained significant even after splitting the study population according to the type of NRS (high-flow nasal cannulas [R2 = 0.79, p < 0.001] or non-invasive ventilation [R2 = 0.95, p < 0.001]). Conclusions: In a cohort of patients with ARF, nasal pressure swings did not alter respiratory mechanics in the short term and were highly correlated with esophageal pressure swings during spontaneous tidal breathing. ΔPnos might warrant further investigation as a measure of inspiratory effort in patients with ARF. Trial registration: NCT03826797 . Registered October 2016.
Background Vaccines against severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) are used to reduce the risk of developing Coronavirus Disease 2019 (COVID-19). Despite the significant benefits in terms of reduced risk of hospitalization and death, different adverse events may present after vaccination: among them, headache is one of the most common, but nowadays there is no summary presentation of its incidence and no description of its main features. Methods We searched PubMed and EMBASE covering the period between January 1 st 2020 and August 6 th , 2021, looking for record in English and with an abstract and using three main search terms (with specific variations): COVID-19/SARS-CoV-2; Vaccination; headache/adverse events. We selected manuscript including information on subjects developing headache after injection, and such information had to be derived from a structured form (i.e. no free reporting). Pooled estimates and 95% confidence intervals were calculated. Analyses were carried out by vaccine vs. placebo, by first vs. second dose, and by mRNA-based vs. “traditional” vaccines; finally, we addressed the impact of age and gender on post-vaccine headache onset. Results Out of 9338 records, 84 papers were included in the review, accounting for 1.57 million participants, 94% of whom received BNT162b2 or ChAdOx1. Headache was generally the third most common AE: it was detected in 22% (95% CI 18–27%) of subjects after the first dose of vaccine and in 29% (95% CI 23–35%) after the second, with an extreme heterogeneity. Those receiving placebo reported headache in 10–12% of cases. No differences were detected across different vaccines or by mRNA-based vs. “traditional” ones. None of the studies reported information on headache features. A lower prevalence of headache after the first injection of BNT162b2 among older participants was shown. Conclusions Our results show that vaccines are associated to a two-fold risk of developing headache within 7 days from injection, and the lack of difference between vaccine types enable to hypothesize that headache is secondary to systemic immunological reaction than to a vaccine-type specific reaction. Some descriptions report onset within the first 24 h and that in around one-third of the cases, headache has migraine-like features with pulsating quality, phono and photophobia; in 40–60% of the cases aggravation with activity is observed. The majority of patients used some medication to treat headache, the one perceived as the most effective being acetylsalicylic acid.
Background Bullying is recognized as one of the most significant social and health problems in the school environment for children and adolescents. In Italy, bullying involved 2 in 10 kids between 11–17 years that referred to have been bullied two or more times in a month. In Sicily, the estimated prevalence of children aged 11 to 15 that suffered at least one act of bullying in the last two months was 14% in 2011. Methods A questionnaire consisting of 30 items investigating physical, verbal and indirect bullying, observers of bullying, resiliency, and prosociality was administered to preadolescents of ten first-grade secondary schools within the Palermo Province in order to analyze prevalence and factors associated with bullying phenomenon. Also, a systematic literature review (SLR) analyzing manuscripts that reported prevalence of the bullying phenomenon worldwide was conducted. Results Survey : a total of 867 students, belonging to 35 s and 31 third classes of ten different schools in Palermo, Italy, were recruited in the survey. The values of physical bullying are included between the 4% of the single question method and the almost forty percent detected by the score of 7 method. Verbal bullying oscillates between 15.9% and 66.3%. Observers average values varies from 15.8% to 47.5%. SLR : the estimated prevalence showed a considerable fluctuation. The occurrence of the bullying phenomenon was low in some Northern European countries, while in Anglo-Saxon countries it affected over a quarter of the middle school student population (28% in Maryland, USA and 21% in the UK). Conclusions The prevalence of the bullying phenomenon recorded by this survey with the three different methods used is similar to observations in international literature. In the Sicilian context, a higher prevalence of bullying phenomena was observed in pre-adolescents attending major classes and in schools with lower socio-economic index. Though it remains difficult to obtain univocal data that clarifies the prevalence of different type of bullying, the continuous investigation of prevalence and factors associated with the phenomenon is a necessary starting point to introduce interventions and preventive measures in Public Health programs.
Background Since their introduction in orthodontics, clear aligners have been appreciated by patients, including adults, for their comfort and low aesthetic impact. Despite the enormous mobilization of financial resources all over the world aimed at producing new product lines, few clinical studies or high-quality evidence have been produced regarding the real effectiveness of such treatment. Given the few limited kinds of research on the subject, this study aims to produce and critically evaluate other data, to establish the concrete reliability of clear aligners in orthodontic therapy. Results Significant sample sizes were obtained for intrusion, vestibulo/lingual (V/L) crown tipping, and rotation. The overall accuracy for rotation resulted in 86%, ranging from 96% for maxillary central incisors to 70.4% for mandibular first premolars. The intrusion was registered only for anterior teeth; mean predictability was 92%, with the worst result being 86.7% for mandibular canines and the best being 98% for mandibular central incisors. V/L tipping was the most accurate movement: 93.1% of the prescribed movement was completed. Maxillary central incisors showed the lowest accuracy (80.7%), while mandibular central incisors were the highest (97.5%). Conclusions The present study provided reassuring data in support of the accuracy of the Invisalign ® system. Vestibulo/lingual tipping was the most predictable movement, while rotation of canines, premolars, and lateral incisors were the least predictable. Intrusion resulted highly predictable up to 2 mm. When careful treatment planning follows a correct diagnosis, together with the use of auxiliary features and refinements, the planned results can be achieved in a clinically successful way. Authors believe that there is a major need for greater samples to overcome bias related to variables if we want to answer the unsolved questions, such as the predictability of severe malocclusions treatment.
Background Cardio-facio-cutaneous syndrome (CFCS) belongs to RASopathies, a group of conditions caused by mutations in genes encoding proteins of the rat sarcoma/mitogen-activated protein kinase (RAS/MAPK) pathway. It is a rare syndrome, with about 300 patients reported. Main clinical manifestations include facial dysmorphisms, growth failure, heart defects, developmental delay, and ectodermal abnormalities. Mutations (mainly missense) of four genes ( BRAF , MAP 2 K1 , MAP 2 K2 , and KRAS ) have been associated to CFCS. However, whole gene deletions/duplications and chromosomal microdeletions have been also reported. Specifically, 19p13.3 deletion including MAP 2 K2 gene are responsible for cardio-facio-cutaneous microdeletion syndrome, whose affected subjects show more severe phenotype than CFCS general population. Case presentation Hereby, we report on a female newborn with prenatal diagnosis of omphalocele, leading to further genetic investigations through amniocentesis. Among these, array comparative genomic hybridization (a-CGH) identified a 19p13.3 microdeletion, spanning 1.27 Mb and including MAP 2 K2 gene. Clinical features at birth (coarse face with dysmorphic features, sparse and friable hair, cutaneous vascular malformations and hyperkeratotic lesions, interventricular septal defect, and omphalocele) were compatible with CFCS diagnosis, and further postnatal genetic investigations were not considered necessary. Soon after discharge, at around 1 month of life, she was readmitted to our Neonatal Intensive Care Unit due to repeated episodes of vomiting, subtending a hypertrophic pyloric stenosis (HPS) which was promptly identified and treated. Conclusions Our report supports the 19p13.3 microdeletion as a contiguous gene syndrome, in which the involvement of the genes contiguous to MAP 2 K2 may modify the patients’ phenotype. It highlights how CFCS affected subjects, including those with 19p13.3 deletions, may have associated gastrointestinal defects (e.g., omphalocele and HPS), providing further data on 19p13.3 microdeletion syndrome, and a better characterization of its genomic and phenotypic features. The complex clinical picture of such patients may be worsened by additional, and even precocious, life-threatening conditions like HPS. Clinicians must consider, anticipate and/or promptly treat possible medical and surgical complications, with the aim of reducing adverse outcomes. Extensive diagnostic work-up, and early, continuous, and multidisciplinary follow-up, as well as integrated care, are necessary for the longitudinal clinical evolution of any single patient.
This thematic series collects some papers on Italian students' mobility. The aim of this thematic series is twofold. First, to describe the phenomenon which is important for universities and for its negative socio-economic implications for the South of Italy. Second, to propose new applications of statistical methods for this topic and applications which can be extended to other forms of migration, too.
Stiffness is a fundamental property of living tissues, which may be modified by pathologies or traumatic events but also by nutritional, pharmacological and exercise interventions. This review aimed to understand if specific forms of exercise are able to determine specific forms of tissue stiffness adaptations. A literature search was performed on PubMed, Scopus and Web of Science databases to identify manuscripts addressing adaptations of tissue stiffness as a consequence of long-term exercise. Muscular, connective, peripheral nerve and arterial stiffness were considered for the purpose of this review. Resistance training, aerobic training, plyometric training and stretching were retrieved as exercise modalities responsible for tissue stiffness adaptations. Differences were observed related to each specific modality. When exercise was applied to pathological cohorts (i.e. tendinopathy or hypertension), stiffness changed towards a physiological condition. Exercise interventions are able to determine tissue stiffness adaptations. These should be considered for specific exercise prescriptions. Future studies should concentrate on identifying the effects of exercise on the stiffness of specific tissues in a broader spectrum of pathological populations, in which a tendency for increased stiffness is observed.
Mechanical ventilation is a life-saving technology, but it can also inadvertently induce lung injury and increase morbidity and mortality. Currently, there is no easy method of assessing the impact that ventilator settings have on the degree of lung inssflation. Computed tomography (CT), the gold standard for visually monitoring lung function, can provide detailed regional information of the lung. Unfortunately, it necessitates moving critically ill patients to a special diagnostic room and involves exposure to radiation. A technique introduced in the 1980s, electrical impedance tomography (EIT) can non-invasively provide similar monitoring of lung function. However, while CT provides information on the air content, EIT monitors ventilation-related changes of lung volume and changes of end expiratory lung volume (EELV). Over the past several decades, EIT has moved from the research lab to commercially available devices that are used at the bedside. Being complementary to well-established radiological techniques and conventional pulmonary monitoring, EIT can be used to continuously visualize the lung function at the bedside and to instantly assess the effects of therapeutic maneuvers on regional ventilation distribution. EIT provides a means of visualizing the regional distribution of ventilation and changes of lung volume. This ability is particularly useful when therapy changes are intended to achieve a more homogenous gas distribution in mechanically ventilated patients. Besides the unique information provided by EIT, its convenience and safety contribute to the increasing perception expressed by various authors that EIT has the potential to be used as a valuable tool for optimizing PEEP and other ventilator settings, either in the operative room and in the intensive care unit. The effects of various therapeutic interventions and applications on ventilation distribution have already been assessed with the help of EIT, and this document gives an overview of the literature that has been published in this context.
Background Pathogenic variants in PEX -genes can affect peroxisome assembly and function and cause Zellweger spectrum disorders (ZSDs), characterized by variable phenotypes in terms of disease severity, age of onset and clinical presentations. So far, defects in at least 15 PEX -genes have been implicated in Mendelian diseases, but in some of the ultra-rare ZSD subtypes genotype–phenotype correlations and disease mechanisms remain elusive. Methods We report five families carrying biallelic variants in PEX13. The identified variants were initially evaluated by using a combination of computational approaches. Immunofluorescence and complementation studies on patient-derived fibroblasts were performed in two patients to investigate the cellular impact of the identified mutations. Results Three out of five families carried a recurrent p.Arg294Trp non-synonymous variant. Individuals affected with PEX13 -related ZSD presented heterogeneous clinical features, including hypotonia, developmental regression, hearing/vision impairment, progressive spasticity and brain leukodystrophy. Computational predictions highlighted the involvement of the Arg294 residue in PEX13 homodimerization, and the analysis of blind docking predicted that the p.Arg294Trp variant alters the formation of dimers, impairing the stability of the PEX13/PEX14 translocation module. Studies on muscle tissues and patient-derived fibroblasts revealed biochemical alterations of mitochondrial function and identified mislocalized mitochondria and a reduced number of peroxisomes with abnormal PEX13 concentration. Conclusions This study expands the phenotypic and mutational spectrum of PEX13 -related ZSDs and also highlight a variety of disease mechanisms contributing to PEX13 -related clinical phenotypes, including the emerging contribution of secondary mitochondrial dysfunction to the pathophysiology of ZSDs.
Background Arthrogryposis multiplex congenita (AMC) is a group of clinically and etiologically heterogeneous conditions, characterized by prenatal onset contractures affecting two or more joints. Its incidence is about 1 in 3000 live births. AMC may be distinguished into amyoplasia, distal and syndromic arthrogryposis. Distal arthrogryposis (DA) predominantly affects hands and feet. It is currently divided into more than ten subtypes (DA1, DA2A/B, DA3–10), based on clinical manifestations, gene mutations and inheritance pattern. Among them, only a few patients with DA5 have been reported. It is associated to a gain-of-function pathogenic variant of the PIEZO2 gene, encoding for an ion-channel necessary to convert mechanical stimulus to biological signals and crucial for the development of joints, neuromuscular and respiratory systems. Main clinical features include multiple distal contractures, short stature, ptosis, ophthalmoplegia and, in some cases, restrictive lung disease. Case presentation Hereby, we report on a four-generation Italian family with DA5. Our first proband was a newborn with prenatal suspicion of AMC. At birth, clinical findings were compatible with a DA diagnosis. Family history was positive for the mother with short stature, ophthalmoplegia, short neck, and contractures of the joints of distal extremities, and for three other relatives on the maternal side, including grandfather and great-grandmother, who all shared similar findings. Thus, we performed a next generation sequencing analysis (NGS) of the genes associated to AMC and of those involved in DA. The gain-of-function heterozygous mutation c.8181_8183delAGA (p.Glu2727del) of PIEZO2 was identified in the proband, and the same mutation was also found in the mother, confirming the autosomal dominant inheritance of the condition. Conclusions Our patients contribute to the current DA5 genomic database, and to a better characterization of the disease. Clinicians may have suspicion of a DA diagnosis based on suggestive (also prenatal) clinical findings, which must be then confirmed by NGS analysis. Since natural history varies widely among different DA disorders, detection of the underlying causal variant is essential for the identification of the exact subtype, and to its adequate management, which must rely on a multidisciplinary and individualized approach.
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