Cerebral traumatism with a playground rocking toy mimicking shaken baby syndrome

Shaken baby syndrome (SBS), one of the most deadly and devastating forms of child abuse, is caused by violent shaking. The combination of subdural hematoma, retinal hemorrhage, brain swelling, and diffuse axonal injury is highly typical of this syndrome and faced with these autopsy findings, induced traumatic lesions are strongly considered. However, it is known that motor-vehicle accidents and falls from great height can also produce this pattern of injury. Nevertheless, stories of arms fall, couch fall, or bumped head while the baby is being carried are generally considered incompatible with SBS. We here report a case of a 2-year-old boy presenting with all the classic autopsy findings of SBS from a playground rocking toy shaken by an older child.     

Sickle Cell Trait Mimicking Multiple Inflicted Injuries in a 5-Year-Old Boy

Abstract:  Sickle cell disease (SCD) and sickle cell trait (SCT) can be associated with sudden unexpected death in the pediatric population, usually due to pulmonary complications occurring within the acute chest syndrome (ACS). Musculoskeletal complications can occur and are classically limited to bone infarcts. The occurrence of bone pathology centered upon the epiphyseal growth plate in SCD/SCT is extremely rare, and multiple such injuries in a single patient have not been previously reported. Herein, we describe a case of sudden unexpected death in a 5-year-old child with undiagnosed SCT due to the ACS, with widespread epiphyseal and periosteal bone lesions mimicking multiple inflicted injuries at autopsy. This case highlights the importance of clinicopathological correlation and is the first to describe SCT pathology as a mimic of nonaccidental injury.     

Death Caused by Toxic Epidermal Necrolysis (Lyell Syndrome)

Abstract: Toxic epidermal necrolysis (TEN) is characterized by fever, scalded appearance of the skin, and epidermolysis associated to blister formation and exfoliation, and it is caused by hypersensitivity reaction to a drug. The authors report two cases of death as a result of TEN; both referred to old aged women treated with a polytherapy including allopurinol. Both patients displayed erythematous skin lesions similar to scald burns and epidermolysis at the face, chest, and abdomen and died shortly after hospitalization. Autopsy findings and histological examinations revealed epidermal necrolysis and confirmed the clinical diagnosis. A strict time‐correlation between allopurinol administration and symptoms was evidenced. Because of its iatrogenic origin, TEN often arises suspicions of medical liability; however, because of its unpredictable nature, the occurrence of this syndrome cannot be ascribed to the medical staff whose main task is the rapid diagnosis and the correct management.     

Manifestations and Medicolegal Significance of Loeys–Dietz Syndrome

Loeys–Dietz syndrome is a recently described autosomal dominant disorder with underlying vasculopathy characterized by aortic and other vascular aneurysmal dissection/rupture. A 61‐year‐old man is reported who died suddenly and unexpectedly and at autopsy was found to have a ruptured abdominal aortic aneurysm. Additional findings included dolichostenomelia, high‐arched palate, and pectus excavatum. There was a strong family history of Loeys–Dietz syndrome, although the decedent had never been tested. Death was, therefore, due to a ruptured abdominal aortic aneurysm in a case of probable Loeys–Dietz syndrome. Although Loeys–Dietz syndrome shares common characteristics with Marfan and other connective tissue syndromes, it is a distinct entity with a much more aggressive clinical course. Lethal events may not occur until later adult life; however, the identification of the syndrome and differentiation from other connective tissue disorders at autopsy is important so that genetic investigation of close relatives can be undertaken with prophylactic surgical treatment if necessary.     

An Isolated Perfused Rat Kidney Model for the Evaluation of the Effect of Glucose on Renal Tubular Epithelial Morphology

An isolated perfused kidney model was used to evaluate the effect of hyperglycemia on renal tubular epithelial cell morphology. Ten Sprague–Dawley rat kidneys were perfused with Krebs–Henseleit buffer containing 70 mmol/L of glucose (five for 1 h and five for 2 h). Two control groups consisted of 10 kidneys perfused with Krebs–Henseleit buffer without hyperglycemia (five for 1 h and five for 2 h), and 10 nonperfused contralateral kidneys placed in the same environment for the same duration. The hyperglycemia group had significantly increased renal tubular vacuolization (p < 0.001) compared to both control groups at 1 and 2 h. The isolated perfused kidney model recapitulates the renal tubular vacuolization phenotype found in hyperglycemia and may be a potential tool for the investigation into causal factors in renal histology. The full pattern of the Armanni–Ebstein phenomenon was not, however, reproduced, suggesting that this change requires more time or involves more complex factors.     

PRRSV间接免疫荧光检测法的建立和应用

以猪生殖与呼吸综合征病毒(PRRSV) ATCC VR 2332 株人工单独感染3 头3 周龄仔猪,并用PRRSV ATCC VR 2332株和猪圆环病毒2型(PCV2)联合感染2 头3 周龄仔猪,每日检查试验猪体温、采食情况及临床表现,并用HerdChek IDEXX 试剂盒测其血清抗体。PRRSV PCV2联合感染猪分别在感染后1、3周剖杀,PRRSV单独感染猪和健康对照猪分别在感染后1、2和3周剖杀,对全部试验猪的肺组织进行灌洗处理以获得肺泡巨噬细胞(PAM),用PAM进行抹片,同时用肺组织直接进行触片做间接免疫荧光(IIF)检测。结果表明,用所获得的3 株单克隆抗体均检测到人工感染猪肺组织中的PRRSV抗原。另外,用IIF检测7 头临床疑似PRRS病猪的PAM抹片,其中沭阳县的2头猪呈现阳性反应;对这2头猪的肺组织进行病毒分离,在盲传到第4代时Marc 145细胞上产生明显的细胞病变,进一步证实用所获得的3株单克隆抗体检测临床样品的结果准确而可靠,且获得的3株单克隆抗体均可通过IIF用于检测猪肺组织中的PRRSV抗原。     

东莞地区外来工青壮年猝死综合征的流行病学研究

目的研究东莞地区青壮年猝死综合征(SMDS)的流行病学特征。方法对东莞市公安局1990～2001年的法医学检案中遴选的284例SMDS案例资料进行回顾性研究。结果分析SMDS猝死者的籍贯、年龄、性别、死亡季节的分布及死亡经过、尸检所见的特征。结论此项研究为下一步进行SMDS的流行病学研究积累了初步资料。     

青壮年猝死综合征窦房结肽能神经支配的定量分析

目的研究青壮年猝死综合征(SMDS)窦房结肽能神经的分布及其比例关系,探讨SMDS的猝死机制。方法采用LSAB免疫组化方法结合计算机图象分析技术,对12例非心性死亡者及6例SMDS窦房结进行神经肽Y(NPY)、血管活性肠肽(VIP)的免疫组化染色并作定量分析。结果SMDS组与非心性死亡组相比,窦房结NPY、VIP免疫阳性物含量及VIP/NPY两者比值均无显著性差异。结论SMDS的猝死机制可能与心脏自主神经功能失调无明显相关。     

Persistent Retinal Iron in Abusive Head Trauma

Retinal hemosiderin deposition is a histologic indicator of sustained hemorrhage but cannot be used to precisely estimate the elapsed time since an episode of trauma. A 5‐month‐old male infant was admitted to hospital after acute deterioration. Examination revealed encephalopathy, subdural hematomas, and retinal hemorrhages consistent with abusive head trauma (AHT). At the age of 3, he was readmitted to hospital with spontaneous osteopenic fracture of the right femur. The patient deteriorated and died after unsuccessful resuscitation. Ophthalmopathological investigation showed atrophy of the retina and optic nerve and hemosiderin deposition in both eyes. Retinal hemosiderin deposition is currently generally assumed to disappear within 6–8 weeks after the occurrence of hemorrhage in AHT. This case report describes an infant with bilateral retinal hemosiderin depositions due to hemorrhages sustained from AHT occurring 32 months prior to death. Implications of this finding for the interpretation of retinal hemosiderin depositions in AHT are discussed.     

Molecular Autopsy of Desmosomal Protein Plakophilin‐2 in Sudden Unexplained Nocturnal Death Syndrome

Plakophilin‐2 (PKP2) variants could produce a phenotype of Brugada syndrome (BrS), which seems to be most likely the same allelic disorder as some sudden unexplained nocturnal death syndrome (SUNDS). All coding regions of PKP2 gene in 119 SUNDS victims were genetically screened using PCR and direct Sanger sequencing methods. Three novel mutations (p.Ala159Thr, p.Val200Val, and p.Gly265Glu), one novel rare polymorphism (p.Thr723Thr), and eight reported polymorphisms were identified. A compound mutation (p.Ala159Thr and p.Gly265Glu) and a rare polymorphism (p.Thr723Thr) were found in one SUNDS case with absence of the cardiomyopathic features. The detected compound mutation identified in this first investigation of PKP2 genetic phenotype in SUNDS is regarded as the plausible genetic cause of this SUNDS case. The rare incidence of PKP2 mutation in SUNDS (1%) supports the previous viewpoint that SUNDS is most likely an allelic disorder as BrS.