The analysis of SUDEP forensic autopsies leading to preventable events.

Introduction: The diagnosis of unexpected death by excluding non-natural causes, particularly in subjects with epilepsy, is a topic of interest and it is difficult to identify in the forensic field. Health professionals sometimes are faced with cases of sudden death, generally in young adults with a long history of epilepsy that require, for judicial purposes, an explanation in terms of cause and means to determine the death. SUDEP is an entity diagnosed by the exclusion of other causes that may have led to death, and then for forensic purposes, it requires particular attention and knowledge, and there is difficulty in identifying it.

Intrauterine and Neonatal Exposure to Opioids: Toxicological, Clinical, and Medico-Legal Issues.

Opioids have a rapid transplacental passage (i.e., less than 60 min); furthermore, symptoms characterize the maternal and fetal withdrawal syndrome.

EtG Quantification in Hair and Different Reference Cut-Offs in Relation to Various Pathologies: A Scoping Review.

Ethyl glucuronide (EtG) is a non-volatile, non-oxidative, hydrophilic, and stable ethanol phase II metabolite. EtG is produced through ethanol glucuronidation by UDP-glucuronosyltransferase (UGT), a phase II enzyme. EtG can be extracted from different biological matrices, including keratin ones, such as hair or nails.

Health-related quality of life of food-allergic children compared with healthy controls and other diseases.

Background: Food allergy is a potentially life-threatening disease, affecting up to 10% of the pediatric population.

Objective: The aim of our study was to assess the health-related quality of life (HRQL) of food-allergic patients compared with the general population and patients with other chronic diseases with dietary or allergic burden, in a cross-sectional study.

Methods: We recruited patients aged 8-17 years diagnosed with food allergy and matched healthy controls recruited in schools.

Large-scale screening of lipase acid deficiency in at risk population.

Background: Lysosomal acid lipase deficiency (LALD, OMIM#278000) is a rare lysosomal disorder with an autosomal recessive inheritance. The main clinical manifestations are related to a progressive accumulation of cholesteryl esters, triglycerides or both within the lysosome in different organs such as the liver, spleen, and cardiovascular system. A wide range of clinical severity is associated with LALD including a severe very rare antenatal/neonatal/infantile phenotype named Wolman disease and a late-onset form named cholesteryl ester storage disease (CESD).

Clinical Remission and Psychological Management are Major Issues for the Quality of Life in Pediatric Crohn Disease.

Objectives: Crohn disease (CD) can affect patient's quality of life (QOL) with physical, social, and psychological impacts. This study aimed to investigate the QOL of children with CD and its relationship with patient and disease characteristics.

Methods: Children ages from 10 to 17 years with diagnosed CD for more than 6 months were eligible to this cross-sectional study conducted in 35 French pediatric centers.

Genotype/phenotype correlations of childhood-onset congenital sideroblastic anaemia in a European cohort.

Congenital sideroblastic anaemia (CSA) is a rare disease caused by germline mutations of genes involved in haem and iron-sulphur cluster formation, and mitochondrial protein biosynthesis. We performed a retrospective multicentre European study of a cohort of childhood-onset CSA patients to explore genotype/phenotype correlations. We studied 23 females and 20 males with symptoms of CSA.

Radial Head Resection versus Arthroplasty in Unrepairable Comminuted Fractures Mason Type III and Type IV: A Systematic Review.

Unrepairable comminuted fractures of the radial head Mason type III or type IV have poor outcomes when treated by open reduction and internal fixation. Radial head resection has been proposed as good option for surgical treatment, while in the last decades, the development of technology and design in radial head prosthesis has increased efficacy in prosthetic replacement. The present review was conducted to determine the best surgical treatment for comminuted radial head when ORIF is not possible.

Surgical time for graft preparation using different suture techniques.

Background: The purpose of the present study was to compare the operative time for graft preparation using different techniques for graft suturing.

Material And Methods: Flexor profundus tendons were harvested from fresh pig hind-leg trotters. Three different suture techniques were investigated: the Krackow stitch (K), the Whipstitch (W), and the Modified Finger-Trap suture (MFT).

Legal aspects of sexually transmitted diseases: abuse, partner notification and prosecution.

Sexually transmitted diseases (STDs), with special emphasis to HIV infection, involve legal and ethical issues regarding informed consent to submit to a diagnostic, observance of professional secrecy in regard to partner(s) and community; legal troubles of particular difficulties are related to STD involving minors; lastly, physicians must be able to recognize the state of so called medical necessity. Knowledge and awareness of these related obligations are crucial to STD in medical practice; it is also important to allow for proper protection of victims of suspected sexual abuse under observation of healthcare. With regard to this aspect should be emphasized that violence against women and minors is a worldwide problem that has not yet been sufficiently acknowledged.

[Eosinophilic esophagitis. Clinical presentation, allergology and treatment: a series of 22 children].

Background And Aims: Eosinophilic esophagitis (EE) is a disorder characterized by severe eosinophilic infiltration of the esophagus, with dysphagia and gastroesophageal reflux disease (GERD) symptoms unresponsive to acid blockade therapy but responsive to the removal of dietary antigens. We report information relating to children diagnosed with EE in Nice, France, over a 6-year period.

Patients And Methods: We conducted a retrospective study between January 1, 2004, and July 31, 2009, evaluating all children diagnosed with EE.

Noninvasive procedures to evaluate liver involvement in HIV-1 vertically infected children.

Objectives: : Progressive liver injury is a concern in HIV-infected children exposed to long-term antiretroviral drugs and to the cytopathic effect of HIV. Yet liver biopsy is usually considered too invasive to be repeated in these patients. The aims of this study are to evaluate the feasibility of noninvasive hepatic investigations in HIV-1-infected children, assess the prevalence of signs of liver affection, and analyse the influence of the HIV disease severity and the exposure to antiretroviral therapy.

Evolution of a patient with Bohring-Opitz syndrome.

We detailed the story from birth to the age of 5 years 9 months, of the oldest patient reported with a Bohring-Opitz syndrome with the three main diagnostic criteria: characteristic facial appearance, fixed contractures of the upper limbs and severe feeding difficulties. The facial anomalies described in our patient were microcephaly, bitemporal narrowing, "puffy" cheeks, forehead naevus flammeus, hypoplastic orbital ridges, prominent eyes, broad nasal bridge, high arched palate, buccal-alveola frenula and retrognathism. The magnetic resonance imaging (MRI) of the brain showed a hypoplastic corpus callosum and a narrowed upper cervical canal; and the cervical MRI showed a malformation of the atlas consisting in an agenesis of the anterior arch and an anterior slip of the posterior arch.

Lethal rupture of post-traumatic aneurysm of the vertebral artery case report.

Traumatic aneurysms or dissections of the vertebral artery have been reported in patients who have suffered minor craniofacial injuries in traffic accidents. A case is reported of ruptured traumatic vertebral artery aneurysm due to closed head injury without without penetrating injuries or skull fractures. The macroscopic and histological findings relevant to the vertebral wall were compatible with post-traumatic aneurysm; the rupture of the wall was assumed to be caused by sepsis and local infiltration of inflammatory cells.

[Informed consent for HIV diagnostic tests: what to do in case of minors].

AIDS is a clinical picture related to Human Immunodeficiency Virus (HIV) infection. In the last 20 years this infection has spread progressively, with approximately 2.4 million children under 15 years old now infected.

Cervical necrotizing fasciitis and descending necrotizing mediastinitis in a patient affected by neglected peritonsillar abscess: a case of medical negligence.

We report a case of fatal cervical necrotizing fasciitis (CNF) and descending necrotizing mediastinitis (DNM) due to primary peritonsillar abscess in 60-year-old male patient with no history or evidence of immunocompromising disorders. The patient was treated with antibiotic and corticosteroid drugs but he developed mediastinitis and septic shock and died of multiple organ failure six days later from recovery in hospital. After a clinical, diagnostic and therapeutical consideration of the cervical necrotizing fasciitis and some related risks of a delayed diagnosis and treatment, the authors analysed the clinical history of the patient and of the medical conduct pointing out professional malpractice chargeable to doctors.

Post-traumatic lethal carotid-cavernous fistula.

The authors report about an unexpected death by traumatic lesion of the internal carotid artery in a 30-year-old man who had fallen two metres. The man suffered a fracture of the left maxillary sinus and a fracture of the right orbit with bilateral haemorrhage of the maxillary sinus. Surgical treatment was performed with favorable outcome.

Fluconazole therapy for Candida albicans urinary tract infections in infants.

Candiduria is rare in newborns and infants, occurring most often in patients with risk factors. When associated with a candidal bezoar in the urinary tract, candiduria is usually treated by systemic amphotericin B and flucytosine plus local irrigation with amphotericin B. We describe the successful treatment of five newborns with a urinary tract infection, on major urological malformations, due to Candida albicans (including three with a candidal bezoar) by fluconazole alone.

[Primary Gougerot-Sjögren syndrome in a 13-year-old girl].

Unlabelled: Sjögren's syndrome is uncommon in children, and occurs most often in association with autoimmune diseases (secondary Sjögren's syndrome). We describe the clinical and biological features of a 13-year-old girl with primary Sjögren's syndrome, revealed by recurrent parotitis.

Case Report: This adolescent girl was referred for investigation of multiple episodes of bilateral parotid swelling since age nine, without systemic symptoms.

Churg-Strauss syndrome revealed by acute abdominal pain.

We describe a 10-year-old girl with Churg-Strauss syndrome, who presented with acute abdominal pain, bloody diarrhea, and pulmonary infiltrates. She had a 6-year history of severe asthma. Bronchoalveolar lavage showed marked eosinophilia.