Post-mortem analysis for two prevalent β-oxidation mutations in sudden infant death

BACKGROUND: Fatty acid oxidation disorders may cause sudden and unexpected infant death and are associated with the histological hallmark of hepatic steatosis. The goal of the present study was to assess the value of post-mortem molecular analysis for medium-chain acyl-coenzyme A dehydrogenase (MCAD) and mitochondrial trifunctional protein (MTP) defects in unexplained sudden infant death (SID) associated with fatty infiltration of the liver. MCAD catalyzes the first step of medium-chain fatty acid oxidation while MTP catalyzes the last three steps of long-chain fatty acid oxidation. METHODS: In a retrospective study, 220 consecutive cases of sudden and unexplained infant death certified by medical examiners at Wake Forest University Medical Center were assessed for hepatic steatosis. Subjects with evidence of hepatic steatosis were screened for mutations in MCAD and MTPalpha-subunit using DNA isolated from paraffin-embedded liver tissue, single-strand conformation variance, and nucleotide sequence analyses. RESULTS: Sixteen cases (7.3%) were associated with diffuse micro-vesicular or mixed micro- and macro-vesicular hepatic steatosis. Two of these 16 cases (12.5%) had disease-causing mutations. One was homozygous for the prevalent MCAD A985G mutation. The second was a compound heterozygous for the prevalent MTP G1528C mutation and a novel 1 bp deletion in exon 18 of the MTPalpha-subunit gene. CONCLUSIONS: A significant proportion (7.3%) of SID is associated with hepatic steatosis. The present data support post-mortem molecular analysis for the MCAD A985G and MTP G1528C prevalent mutations in cases of sudden and unexplained infant death associated with hepatic steatosis.     

IL-6对人精子顶体反应影响机制的初步探讨

目的:探讨IL-6对人精子顶体反应(AR)的影响机制。方法:采用BAEE/ADH法测定精子顶体酶的活性,以及通过FITC-PSA法检测精子顶体反应。结果:IL-6可诱导精子顶体酶及超氧化物歧化酶(SOD)的活性,促进精子顶体反应;胞外Ca2+单独不能诱导精子顶体反应,且没有胞外Ca2+的参与,IL-6也不能诱导精子顶体反应;蛋白激酶C(PKC)抑制剂calphC能逆转IL-6诱导的精子顶体反应。结论:IL-6对精子顶体反应有一定的促进作用,可能通过诱导精子的顶体酶和SOD活性等途径来实现,在此作用中,也涉及了PKC的激活,且还需要外源性Ca2+的参与。     

Acute epidural hematoma: an analysis of factors influencing the outcome of patients undergoing surgery in coma

Mortality due to epidural hematoma is virtually restricted to patients who undergo surgery for that condition while in coma. The authors have analyzed the factors influencing the outcome of 64 patients who underwent epidural hematoma evacuation while in coma. These patients represented 41% of the 156 patients operated on for epidural hematoma at their centers after the introduction of computerized tomography (CT). Eighteen patients (28.1%) died, two (3.1%) became severely disabled, and 44 (68.8%) made a functional recovery. The mortality rate for the entire series was 12%, significantly lower than the 30% rate observed when only angiographic studies were available. A significant correlation was found between the final result and the mechanism of injury, the interval between trauma and surgery, the motor score at operation, the hematoma CT density (homogeneous vs. heterogeneous), and the hematoma volume. The patient's age, the course of consciousness before operation (whether there was a lucid interval), and the clot location did not correlate with the final outcome. The mortality rate was significantly higher in patients operated on within 6 hours or between 6 and 12 hours after injury than in those undergoing surgery 12 to 48 hours after injury. Compared with the patients operated on later, the patients undergoing surgery in the early period were, on the average, older and had more rapidly developing symptoms, more pupillary changes, lower motor scores at surgery, larger hematomas, a higher incidence of mixed CT density clots, more severe associated intracranial lesions, and higher postoperative intracranial pressure (ICP). The mechanism of trauma seems to influence the course of consciousness before and after surgery. Passengers injured in traffic accidents had a lower incidence of a lucid interval and longer postoperative coma than patients with low-speed trauma, suggesting more frequent association of diffuse white matter-shearing injury. The duration of postoperative coma correlated with the morbidity rate in survivors. Forty-eight patients (75%) had one or more associated intracranial lesions, and 70% of these required treatment for elevation of ICP after hematoma evacuation. An ICP of over 35 mm Hg strongly correlated with poor outcome; administration of high-dose barbiturates was the only effective means for lowering ICP in nine of 15 patients who developed severe intracranial hypertension after surgery. This study attempts to identify patients at greater risk for presenting postoperative complications and to define a strategy for control CT scanning and ICP monitoring.     

Extradural hematoma: analysis of factors influencing the courses of 161 patients

The clinical and computed tomographic (CT) findings in a series of 161 consecutive patients operated upon for postraumatic extradural hematoma are analyzed. Thirteen (8%) patients had delayed epidural hematoma formation. The overall mortality for the series was 12%, significantly lower than that observed during the prior "angiographic" period at the same unit (30%). Because all but 1 of the deaths occurred among the 66 patients unconscious at the time of operation (27% mortality in this subgroup), the authors sought differential factors between comatose and noncomatose patients at operation. There were no significant differences between these groups in age, sex, mechanism of injury, preoperative course of consciousness (lucid interval or not), or epidural hematoma location and shape. In contrast, significant differences were seen between the two subgroups in trauma-to-operation interval, hematoma volume, CT hematoma density (mixed low-high CT density vs. homogeneous hyperdensity), midline displacement, severity of associated intracranial lesions, and postoperative intracranial pressure (ICP). Patients comatose at operation usually evidenced a more rapid clinical deterioration (a shorter trauma-to-operation interval) and tended to have a large hematoma volume, a higher incidence of mixed CT density clot (hyperacute bleeding), more marked shift of midline structures, more severe associated lesions, and higher postoperative ICP levels.     

Subarachnoid haemorrhage of unknown aetiology

Summary The authors review the literature on subarachnoid haemorrhage of unknown aetiology (SAHUE) and analyze a personal series of 212 patients diagnosed as SAHUE. These patients represent 30% of all cases of primary SAH admitted over a 14.5 year period.The age, sex, antecedents and initial clinical presentation of patients with SAHUE were indistinguishable from those of patients with subarachnoid haemorrhage due to ruptured aneurysm (SAHRA). However, the present series of SAHUE compare favourably with both a personal and a previously reported series of SAHRA insofar as clinical grade on admission (94% of patients in grades I–II of Botterell), presence of blood on CT (51%), vasospasm (5%), ischaemic deficits (3.3%), persistent hydrocephalus (3.5%), rebleeding (6%) and fatal result (3.9%) are concerned.The amount of blood on CT scan in our patients with SAHUE was associated with a significantly higher incidence of brain ischaemia and hydrocephalus but did not correlate with the Botterell grade on admission or final outcome, which were good in the majority of cases regardless of the presence or not of visible cisternal haemorrhage. The results of the present series confirm that the final prognosis of patients with primary SAH showing normal four-vessel cerebral angiography is essentially favourable.     

5992例孕产妇梅毒筛查与分析

目的 了解妊娠期梅毒的流行情况及对围产结局的影响。方法 对5992例孕产妇进行甲苯胺红不加热血清试验（TRUST）筛查，对TRUST阳性病例再进行梅毒螺旋体血清颗粒凝集试验（TPPA）确诊。并对围产结局进行观察分析。结果 5992例孕产妇，检出梅毒患者43例（0．72％），其中30例经青霉素治疗的患者其新产儿经半年以上随访无1例感染梅毒，在未治疗的13例患者中有10例分娩的新生儿TPPA滴度均≥1：40，其中2例为先天性梅毒。1例为死亡梅毒婴儿。结论 开展妊娠期梅毒血清学的产前筛查，加强对妊娠期梅毒的治疗，对减少先天性梅毒的发生尤为重要。