Objectives: The relative length of the second‐to‐fourth digits (2D:4D) has been linked with prenatal androgen in humans. A recent study shows that the 2D:4D ratio in mice is controlled by the balance of androgen to estrogen signaling during a narrow window of digit development. Androgen receptor (AR) activity is higher in digit 4 than in digit 2, and inactivation of AR decreases growth of digit 4, which causes a higher 2D:4D ratio. At the molecular level, the effect of androgens is mediated through the activation of AR. The CAG/GGN repeat polymorphisms of the AR gene are associated with AR activity. Here, we investigate the effect of CAG/GGN repeat polymorphisms in AR on 2D:4D in Chinese. Methods: Digit lengths of the second and fourth fingers were measured from photocopies of the ventral surface of the hand and by actual finger measurements. We genotyped AR polymorphisms by ABI 3730 DNA analyzer. Results: We found that left hand 2D:4D ratio was longer than that of the right hand both in males and in females. We failed to find any relationship between CAG / GGN alleles and the left hand, right hand, right minus left‐hand or mean hand 2D:4D ratios (all, r < 0.20, P > 0.05). Conclusions: In this study, we first found that the left hand 2D:4D ratio was longer than that of the right hand in both males and females. However, we found that both CAG and GGN alleles were not associated with the left hand, right hand, right minus left‐hand or mean hand 2D:4D ratios. Am. J. Hum. Biol., 2013. © 2012 Wiley Periodicals, Inc.

Atypical teratoid/rhabdoid tumors (AT/RTs) are rare, malignant brain tumors which occur almost exclusively in infants and young children. There have been only 17 cases of AT/RT in adults reported in the medical literature and the rarity of this tumor makes the diagnosis in adults difficult. We describe a case of an AT/RT of the spinal cord in an adult. A 43-year old woman presented with neck and left upper extremity pain. An MRI demonstrated a mass lesion in the dorsal spinal cord extending from C4 to C6. The patient underwent a C3 through C7 laminectomy. In consultation with senior pathologists at other institutions, the lesion was initially diagnosed as a rhabdoid meningioma. Molecular genetic studies revealed monosomy 22 and loss of expression of the INI1 gene in 22q11.2. Subsequently, immunohistochemical studies revealed the absence of INI1 gene expression in the malignant cells, supporting the diagnosis of AT/RT. The patient underwent three additional surgical procedures for recurrent disease throughout the neuraxis secondary to leptomeningeal spread of the tumor. Despite aggressive surgical resection, adjuvant chemotherapy and radiation therapy, the patient succumbed to the disease two and a half years after her initial presentation. An unrestricted autopsy was performed. To our knowledge, this is the first case of a spinal atypical teratoid/rhabdoid tumor in an adult fully documented with molecular, immunohistochemical, cytogenetic and autopsy findings.

Summary:Propofol is increasingly used for the treatment of status epilepticus due to the ease of use and tolerability, even if safety data from randomized clinical trials are lacking. An association of high infusion rates of propofol (>5 mg/kg/h) for more than 48 h and constellation of acidosis, rhabdomyolysis, and cardiovascular collapse has been reported in children, but has only been described in a few adult cases. We report a case and autopsy findings of an adult who developed rhabdomyolysis and cardiac failure after receiving propofol for status epilepticus. The patient became symptomatic within 55 h after initiation of propofol infusion. The maximal infusion rate did not exceed 7.2 mg/kg/h, and propofol in excess of 5mg/kg/h was infused for less than 20 h. Preexisting antiepileptic medication may have exacerbated acidosis. Propofol infusion for the treatment of status epilepticus should be carefully weighted against its real risk to develop propofol infusion syndrome, and alternative agents such as benzodiazepines or barbiturates should be considered for first line therapy. If necessary, prolonged propofol infusion at high doses for the treatment of status epilepticus should be used with caution, and in all cases careful monitoring for rhabdomyolysis and acidosis must be performed.

Context.—The differentiation of pseudoepitheliomatous hyperplasia from invasive squamous cell carcinoma is a difficult and frequently encountered distinction, especially in biopsy specimens from head and neck mucosa. The problem is compounded by inflamed and often poorly oriented tissue sections. Objective.—To distinguish pseudoepitheliomatous hyperplasia from invasive squamous cell carcinoma, utilizing a panel of antibodies to various epithelial and stromal elements (p53, matrix metalloproteinase 1, E-cadherin, and collagen IV) that has been shown to be useful in differentiating intestinal adenomas with invasive adenocarcinoma from displaced adenomatous epithelium. Design.—Thirty-three archival specimens (16 squamous cell carcinoma [12 with invasion and 4 with microinvasion] and 17 pseudoepitheliomatous hyperplasia) from head and neck mucosal locations were immunostained and examined by the authors. Results.—We found increased nuclear staining of the invasive tumor cells with p53. There was decreased staining within invasive tumor nests with E-cadherin. There was highly significant increased staining within tumor cells and adjacent stroma with matrix metalloproteinase 1 (P &lt; .001). The only antibody in our panel that did not show a reliable staining pattern was collagen IV. It appeared fragmented in benign inflamed and malignant areas and therefore was not useful. Conclusions.—p53, matrix metalloproteinase 1, and E-cadherin showed significant staining trends independent of inflammation and suboptimal tissue orientation. Although a properly oriented hematoxylin-eosin–stained section was our gold standard, we found this immunoperoxidase panel useful as a diagnostic adjunct in difficult cases.

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