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Introduction: We report the case of a neonate diagnosed with severe hemophilia A (HA) and conduct a literature review of cases of severe HA presenting at the neonatal age to help define the clinical diagnostic findings and existing differences between the sporadic and familial onset of this condition. Report of a Case: A 6-day-old newborn presented with worsening pallor, inappetence, and hyporeactivity for 48 h. The diagnosis was severe hemophilia A (HA), leading to an unfavorable outcome. A literature review focusing on case reports and series focusing on the clinical expression of HA in neonates was conducted, documenting clinical presentation, family history, and outcomes. Literature review: Forty patients were included. HA was observed in five cases (12.5%) of very preterm births (≤32 weeks) and in four cases (10%) of moderately or late preterm births. Seventeen patients (43%) had a family history, with inheritance being sporadic (21 newborns, 53%) or acquired (2 cases, 4%). Clinical onset typically occurred within the first week of life (approximately 8 out of 10 cases), while only three cases (7.5%) had onset after the first month. Inherited cases presented with hemorrhagic states (nine cases), hypovolemic shock (five cases), or intracranial hypertension (two cases). Sporadic cases showed localized bleeding (11 cases), hypovolemic shock (5 cases), or neurological symptoms like seizures and anisocoria (5 cases). Acquired cases included severe intracranial hemorrhage in one case. Conclusions: Neonatal HA can manifest with severe symptoms and rapid progression, making early diagnosis crucial. Non-specific signs and the absence of coagulophaty disorders in family history can delay diagnosis. Symptoms like prolonged bleeding, cutaneous hematomas, or intracranial bleeding necessitate ruling out major coagulopathy, and neurological signs require immediate imaging to exclude intracranial bleeding. [ABSTRACT FROM AUTHOR]

Background: Thirty years ago, the first attempt by Saliba and colleagues was made to reduce the negative effects (hypercarbia) of exogenous surfactant (ES) by slowing its administration. Sixteen years later, we observed the first less invasive surfactant administration (LISA) attempt by Kribs and colleagues. Many studies, since that time, have tried to minimize the invasiveness of ES and subsequent cerebral blood flow perturbations through studies using near-infrared spectroscopy (NIRS). We sought to address this medical challenge by identifying a less problematic modality of ES administration by delivering multiple aliquots of ES instead of a single one, as typically performed. The aim of this study was to test the hypothesis that a different way of administering ES using more aliquots could be a safe alternative that should be assessed in further studies. Methods: Patients between 26 + 0 and 35 + 6 weeks of gestational age (GA) requiring ES administration were enrolled (April 2023–February 2024). Differently fractioned doses were delivered according to an arbitrary standard dosage (0.3 mL per aliquot in babies < 29 weeks; 0.6 mL in babies ≥ 29 weeks), while NIRS and transcutaneous CO2 (tCO2) monitoring were always performed. ES's effectiveness was assessed based on the reduction in the Oxygen Saturation Index (OSI) after administration. Persistent desaturation, bradycardia, and airway obstruction were defined as adverse effects and used to evaluate safety during ES administration, as well as variability in NIRS-rSO2 values and tCO2. Results: Twenty-four patients were enrolled with a median GA of 29 weeks (IQR 4.5) and BW of 1223 ± 560 g. In addition, 50% of the cohort received fewer than three aliquots, whereas the other 50% received more than three. Monitoring was started before the procedure and continued 30′ after the last ES aliquot administration. The variability in NIRS-SpO2 values was significantly higher in the group (p = 0.007) with a lower number of aliquots administered. Similarly, increased NIRS-rSO2 values (p = 0.003) and increased tCO2 levels (p = 0.005) were observed in infants who underwent an ES split after the administration of a low number of aliquots. Conclusions: Our data obtained from the group with > 3 fractionated doses of ES seem to justify the preparation of a more robust study, as the combination of reduced NIRS variability and reduced tCO2 maximum levels is consistent with more stable cerebral blood flow during the challenging time of ES administration. [ABSTRACT FROM AUTHOR]

Purpose: To evaluate the usefulness of studying vital injuries at the sternal head insertion of the sternocleidomastoid muscle in the medico-legal assessment of death by hanging. Materials and Methods: Study material was obtained from eight bodies of people who died from hanging. The control group included as many specimens collected from people who died from traumatic causes other than hanging (precipitation from medium to large heights and traffic accidents). The structures under study were examined histologically with a BX-51 light microscope (Olympus). An analysis of the extravasated erythrocytes was performed by counting the number per mm2 in the histologic section on 10 HPF (400×), and Student's t-test for a comparison of the averages was applied for all parametric values. The authors noted that the key finding, indicative of the subject's viability at the time of discontinuation, was the presence of recent hemorrhagic infiltrate (in the absence of hemosiderin) at the tendon insertion of the sternocleidomastoid muscle and the proximal part of the muscle itself. Results: All specimens tested were positive for the presence of hemorrhagic infiltrate at the portions tested in a statistically significant manner. In contrast, in the control cases there was no or, where present, no statistically significant (p < 0.05) presence of recent hemorrhagic infiltrate. The limitation of the study is the low number of samples examined. In any case, the results obtained are strongly indicative of the possibility of using this type of forensic pathological investigation in cases where there is a doubt in terms of a differential diagnosis between hanging (suicidal type) and suspension of a corpse in a simulation of hanging. [ABSTRACT FROM AUTHOR]

Our objective is to emphasize the important role of continuous glucose monitoring (CGM) in suggesting adrenal insufficiency in patients affected by type 1 diabetes. We describe an adolescent girl with type 1 diabetes and subsequent latent Addison's disease diagnosed based on a recurrent hypoglycemic trend detected by CGM. In patients with type 1 diabetes, persistent unexplained hypoglycemic episodes at dawn together with reduced insulin requirement arouse souspicionof adrenal insufficiency. Adrenal insufficiency secondary to autoimmune Addison's disease, even if rarely encountered among young patients, may be initially symptomless and characterized by slow progression up to acute adrenal crisis, which represents a potentially life-threatening condition. Besides glycometabolic assessment and adequate insulin dosage adjustment, type 1 diabetes needs prompt recognition of potentially associated autoimmune conditions. Among these, Addison's disease can be suspected, although latent or paucisymptomatic, through periodic and careful evaluation of CGM data. [ABSTRACT FROM AUTHOR]

A mass disaster is a situation that involves criticality between the number of victims and resources, in terms of both men and means, present on the site of an event that is mostly unexpected and sudden. In the multidisciplinary teams that intervene, the role of forensic pathologists, who are responsible for the direction and coordination of post-mortem operations, is central, and must remain so. The authors report the case of an explosion of a pyrotechnic artifice factory, as a result of which numerous victims and injuries are recorded. So, the team completed the autopsies and created a protocol to obtain biological samples (bones, blood, teeth, muscles), while the forensic pathologists contacted the families of the alleged victims and each provided a blood sample that was collected for the DNA. The geneticist, using the method of gene extraction and amplification, obtained the DNA from each bone, tooth, and muscle of blood taken from the victims and then compared it with that extracted from the blood samples of the relatives; the electropherograms showed at least one allele for each genetic marker of the "Combined DNA Index System" in common between the victims and the families, thus allowing to establish the identity of all the subjects involved in the event. Having established the identity of all workers, it was possible to determine their whereabouts in the environment at the time of the location of fires and explosions. The results of the various forensic analyzes (autopsies, genetic investigations and even traumatological investigations) have allowed us to validate a scientific method useful in all mass disasters even when any type of anthropological or forensic dental research is difficult. [ABSTRACT FROM AUTHOR]

A mass disaster is a situation that involves criticality between the number of victims and resources, in terms of both men and means, present on the site of an event that is mostly unexpected and sudden. In the multidisciplinary teams that intervene, the role of forensic pathologists, who are responsible for the direction and coordination of post-mortem operations, is central, and must remain so. The authors report the case of an explosion of a pyrotechnic artifice factory, as a result of which numerous victims and injuries are recorded. So, the team completed the autopsies and created a protocol to obtain biological samples (bones, blood, teeth, muscles), while the forensic pathologists contacted the families of the alleged victims and each provided a blood sample that was collected for the DNA. The geneticist, using the method of gene extraction and amplification, obtained the DNA from each bone, tooth, and muscle of blood taken from the victims and then compared it with that extracted from the blood samples of the relatives; the electropherograms showed at least one allele for each genetic marker of the "Combined DNA Index System" in common between the victims and the families, thus allowing to establish the identity of all the subjects involved in the event. Having established the identity of all workers, it was possible to determine their whereabouts in the environment at the time of the location of fires and explosions. The results of the various forensic analyzes (autopsies, genetic investigations and even traumatological investigations) have allowed us to validate a scientific method useful in all mass disasters even when any type of anthropological or forensic dental research is difficult.