WHAT'S KNOWN ON THIS SUBJECT: XY disorders of sex development have a diverse etiology and often present with atypical genitalia in the newborn period. Sex assignment in those cases in whom this is marked genital ambiguity is a rare, challenging situation that requires multidisciplinary input.
WHAT THIS STUDY ADDS:An international registry has shown temporal changes over the last 3 decades in the practice of sex assignment with a greater proportion of severely affected infants being raised as boys, raising the need for long-term monitoring of these children. abstract BACKGROUND AND OBJECTIVE: It is unclear whether the proportion of infants with a disorder of sex development who are raised as male or female has changed over time. The temporal trends in sex assignment of affected cases entered in the International Disorder of Sex Development (I-DSD) Registry were studied.
METHODS:Cases of disorders of sex development reported as partial androgen insensitivity syndrome (PAIS; n = 118), disorder of gonadal development (DGD; n = 232), and disorder of androgen synthesis (DAS; n = 104) were divided into those who were born before 1990, 1990-1999, and after 1999. External appearance of the genitalia was described by the external masculinization score.
RESULTS:The median (5th-95th percentile) external masculinization scores of those infants with PAIS, DGD, and DAS who were raised as boys were 6 (2-9), 6 (3-9), and 6 (1-12), respectively, and were significantly higher than in those raised as girls (2 [0-6], 2 [0-7], and 0 [0-5], respectively); this difference was maintained in the 3 temporal birth cohorts (P , .01). Of the 118 cases in the pre-1990 cohort, 41 (35%) were raised as boys; of the 148 cases in the 1990-1999 cohort, 60 (41%) were raised as boys; and of the 188 cases in the post-1999 cohort, 128 (68%) were raised as boys.
We investigated the incidence and risk factors for the development of avascular necrosis (AVN) of the femoral head in the course of treatment of children with cerebral palsy (CP) and dislocation of the hip. All underwent open reduction, proximal femoral and Dega pelvic osteotomy. The inclusion criteria were: a predominantly spastic form of CP, dislocation of the hip (migration percentage, MP > 80%), Gross Motor Function Classification System, (GMFCS) grade IV to V, a primary surgical procedure and follow-up of > one year. There were 81 consecutive children (40 girls and 41 boys) in the study. Their mean age was nine years (3.5 to 13.8) and mean follow-up was 5.5 years (1.6 to 15.1). Radiological evaluation included measurement of the MP, the acetabular index (AI), the epiphyseal shaft angle (ESA) and the pelvic femoral angle (PFA). The presence and grade of AVN were assessed radiologically according to the Kruczynski classification. Signs of AVN (grades I to V) were seen in 79 hips (68.7%). A total of 23 hips (18%) were classified between grades III and V. Although open reduction of the hip combined with femoral and Dega osteotomy is an effective form of treatment for children with CP and dislocation of the hip, there were signs of avascular necrosis in about two-thirds of the children. There was a strong correlation between post-operative pain and the severity of the grade of AVN.
Objectives
PRAME (Preferentially Expressed Antigen in Melanoma) is a tumor-associated antigen recognized by immunocytes, and it induces cytotoxic T cell-mediated responses in melanoma. PRAME expression in tumors interferes with retinoic acid receptor (RAR) signaling thus promoting tumor progression. Here, we study PRAME expression in head and neck squamous cell carcinoma (HNSCC) to determine its potential clinical significance.
Materials and Methods
PRAME expression in HNSCC was evaluated by immunohistochemistry in tissue microarrays of primary tumors (n=53), metastatic lymph nodes (n=8) and normal oral mucosa (n=11). Biopsies of dysplastic oral lesions (n=12) were also examined. PRAME expression levels in tissues were correlated with markers of poor prognosis in HNSCC. PRAME mRNA in HNSCC cell lines and in normal immortalized human keratinocytes (HaCaT cell line) was measured by qRT-PCR, and the protein expression by flow cytometry and western blots.
Results
PRAME was expressed in HNSCC cell lines and HNSCC lesions. PRAME expression in dysplastic mucosa was variable. No or only weak expression was found in normal cells or tissues. PRAME expression levels significantly correlated with the tumor grade, size, nodal involvement and the clinical status of HNSCC patients.
Conclusions
Elevated PRAME expression associates with clinicopathologic markers of poor outcome in HNSCC and might identify potential candidates with pre-cancerous lesions for chemoprevention with retinoids.
This report shows the usefulness of HF-USG in monitoring tacrolimus therapy in atopic dermatitis. It is worth emphasizing, that this tool is easily reproducible and allows clinicians to visualize pathologic changes of all skin in vivo. As a noninvasive and independent of subjective judgment method, HF-USG should be included in overall evaluation of atopic dermatitis disease severity together with common scores or scales, especially in the era of evidence based medicine.
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