Major traumas result from the application of multiple force components that, in adulthood, can lead to high mortality and morbidity. In forensic practice, pathological consequences arising from the rapid flexion-extension of an adult victim's soma are observed, with typical intracranial and ophthalmological findings. The totality of these findings allows for a contribution to the definition of the Shaken Adult Syndrome (SAS). A comprehensive review, employing the PRISMA methodology, was conducted on international works pertaining to SAS. This resulted in the identification of six scientific papers, which were analyzed separately. It emerged that, for the diagnosis of SAS, the same diagnostic triad as Shaken Baby Syndrome is valid, comprising subdural hemorrhages, retinal hemorrhages, and encephalopathy. This syndrome appears to encompass a broad spectrum of pathological conditions, ranging from whiplash to diffuse axonal injury (DAI). At the conclusion of this work, we proposed a diagnostic flowchart that allows for suspected predictive diagnosis of SAS, both in live patients presenting to emergency medical services and in post-mortem cadavers. For this purpose, the collection of anamnesis and circumstantial data, the detection of external injuries, and the execution of cranial CT scans will be essential. Ultimately, microscopic examinations of the brain with specific immunomarkers and of ocular structures will enable the identification of pathognomonic findings for SAS.

Autosomal recessive mutations in TAP1, TAP2, TAPBP, or B2M, are associated with major histocompatibility complex (MHC) class I deficiency. Individuals may present with granulomatous skin ulceration, but the underlying antigenic triggers remain largely unknown. We identified TAP1 deficiency in a 32-year-old female referred with a 7-year history of localized skin ulceration. Histologic immunofluorescence revealed that rubella virus (RuV) infection was a likely driver of the associated inflammation, and modest clinical improvement was observed following topical calcineurin inhibition. To better define the natural history, clinical, and immunological manifestations of this condition, we also performed a scoping literature review. We identified 45 unique individuals from 36 reports with a combined follow-up duration of 1,184 patient years. Chronic necrotizing granulomatous skin lesions and childhood-onset bronchiectasis were common. Five deaths were reported (median age 36 years), typically linked to respiratory complications. Phenotypic heterogeneity was evident, with at least four individuals reaching adulthood without clinical symptoms. Diagnostic delay frequently exceeded a decade amongst symptomatic individuals, with misdiagnosis of granulomatous disease prompting systemic immunosuppression and infection-related morbidity. The presence of an abnormal CD8+ T-cell count or a history of consanguinity offered low sensitivity for MHC I deficiency (~ 50%), indicating a low threshold for further investigation is required for correct diagnosis. Graphical review of case reports identified morphologically similar lesions in other MHC I-deficient individuals. These findings suggest that the phenomenon of MHC I deficiency is underreported and that diagnosis should prompt testing for RuV.

Background: Acute Respiratory Distress Syndrome (ARDS) was first described in 1967 by Ashbaugh et al. as a severe acute hypoxemic respiratory failure with reduced lung compliance, representing a common end-path of severe pulmonary endothelial inflammation from diverse etiologies. Since then, several definitions for the adult syndrome have been proposed, culminating in the 2024 "New Global Definition" (Berlin 2.0). In pediatrics, dedicated criteria (pediatric ARDS, PARDS) have been established over the past decade, with the most recent update published by the Second Pediatric Acute Lung Injury Consensus Conference (PALICC-2) in 2023. Methods: We performed a narrative literature review of consensus statements and key studies defining ARDS in adult and pediatric (non-neonatal) populations. Primary sources included the full Berlin 2.0 and PALICC-2 documents, supplemented by PubMed, Embase, and society guidelines. Definitions were compared across major diagnostic domains: timing of onset, imaging requirements, oxygenation thresholds, inclusion of patients with chronic comorbidities, ventilatory support modalities, and applicability in resource-limited settings. Results: Both definitions show convergence in incorporating non-invasive oxygenation indices and adaptability to resource-limited contexts. Key distinctions include the use of the Oxygenation Index (OI) or Oxygen Saturation Index (OSI) in invasively ventilated pediatric patients-metrics that integrate mean airway pressure and correlate more strongly than PaO2/FIO2 with short-term outcomes-and PALICC-2's explicit inclusion of patients with chronic lung disease or cyanotic congenital heart disease when acute deterioration is documented. Imaging criteria differ, with Berlin 2.0 requiring bilateral opacities (and permitting lung ultrasound) versus PALICC-2's acceptance of unilateral findings. Conclusions: Berlin 2.0 and PALICC-2 represent substantial progress toward globally applicable ARDS definitions, but physiologic and structural differences remain. These distinctions have prognostic and research implications, and harmonization will be critical to improve cross-age comparability, optimize clinical trial design, and ultimately enhance patient outcomes.

Severe intracranial trauma during torture or assault is reportedly caused by shaken adult syndrome. However, intracranial traumas caused by natural forces, excluding human factors and collision impact, are extremely rare. We report an autopsy case of shaken adult syndrome caused by ocean wave forces. A man in his 40s without any medical history was washed away by a wave during recreational fishing. He was found approximately 500 m away from the fishing point drifting on the ocean in a state of cardiopulmonary arrest and was confirmed dead, with no response to cardiopulmonary resuscitation, 3 h after the accident. The autopsy revealed no mechanical trauma to the entire body surface, including the head. Both lungs were inflated, and pleural effusion was observed. The brain was swollen and congested, and subarachnoid hemorrhage was observed in the interhemispheric fissure and the convexity of the parietal occipital lobe. Macroscopic and microscopic hemorrhage spots were found in the brain, and the results of the blood alcohol test and urinary toxicological screening were negative. The cause of death was determined as drowning. This case demonstrates a rare but notable mechanism of injury observed in immersed bodies.

To our knowledge, there are few examples of intrafamilial variability involving two different TP63-linked morphopathies within a same family. Here, we describe a Mexican family in which the son had ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3), and his father acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome, both heterozygous for the p.Arg266Gln pathogenic variant in TP63. Additionally, we reviewed the clinical information reported for this TP63 genotype. The son of this family presented ectodermal defects (thin and sparse hair, mild nail dysplasia), tetramelic ectrodactyly, syndactyly, and nasolacrimal duct obstruction (NLDO), indicative of an EEC3 diagnosis. His father, however, exhibited severe NLDO, facial freckling, dental abnormalities, mild nail dysplasia, and a history of micturition problems, compatible with ADULT syndrome. Both were heterozygous for the NM_003722.5(TP63):c.797G>A (p.Arg266Gln) pathogenic variant in TP63. This report expands the spectrum of intrafamilial variability confirming that this can include the expression of distinct types of TP63-related disorders among different members of the same family, whose implications should be also considered in genetic counseling. From our review, we observed that p.Arg266Gln variant seems to correlate particularly with the presence of NLDO, sparse hair/eyebrows, ridged/dystrophic nails, anodontia/hypodontia, and micturition difficulties, as well as for a minor frequency of cleft lip/cleft palate.