Hemophagocytic syndromes such as hemophagocytic lymphohistiocytosis (HLH) are life-threatening hyperinflammatory conditions caused by inherited or acquired immune disorders. Awareness of the clinical symptoms and diagnostic criteria for hemophagocytic syndromes is crucial to start timely life-saving therapy. We present a case of a 4-month-old boy presenting with HLH. However, the patient was subsequently diagnosed with biotinidase deficiency and was successfully treated with biotin-replacement therapy, upon which the hemophagocytic syndrome ceased. Subsequent laboratory evaluations revealed normal lymphocyte cytotoxicity and no mutations in genes associated with familial HLH were found. Biotinidase deficiency should be considered as a differential diagnosis of patients fulfilling HLH criteria. Pediatr Blood Cancer 2012; 59: 191-193. © 2011 Wiley Periodicals, Inc.

The aim of this study was to evaluate the plasma coenzyme Q(10)(CoQ(10)) concentration, a vitamin-like substance found in every cell, which is also viewed as the most effective membrane antioxidant, of thalassemic patients and investigate the effect of chelating agents and ferritin levels on its concentration in patients with β-thalassemia major (β-TM). The study included 44 β-TM patients undergoing deferasirox (DFRA) or deferoxamine (DFO) chelation monotherapies or combined therapy with deferiprone (L1) and DFO, 20 patients with β-thalassemia (β-thal) traits and a control group of 22 healthy sex- and age-matched subjects. Complete blood counts, liver and renal function tests, lipid profiles, ferritin and plasma CoQ(10)[by high performance liquid chromatography (HPLC)] were analyzed. The mean age (14.7 ± 7.3 years; median 14.3 years) and sex (26 males, 18 females) of the β-TM patients were not statistically different from the β-thal trait patients and the control group. The plasma CoQ(10) concentration was 0.425 ± 0.136 μmol/L in β-TM patients, 0.508 ± 0.159 μmol/L in the β-thal trait patients and 0.534 ± 0.133 μmol/L in the control group. The difference was significant in both the β-TM (p < 0.001) and β-thal trait patients (p <0.05) compared to the control group. The CoQ(10) concentration was also associated with ferritin levels in β-TM patients; the β-TM patients with high ferritin levels had a lower CoQ(10)(p <0.05) concentration. Also, higher plasma CoQ(10) levels were detected in β-TM patients undergoing DFRA treatment, according to combined therapy administered (0.457 ± 0.115 vs. 0.382 ± 0.127 mg/dL respectively, p <0.05). In conclusion, both the β-thal trait and β-TM patients have lower antioxidant capacity as demonstrated by the lower CoQ(10) levels. The type of chelating agents and ferritin levels are factors effecting CoQ(10) concentration in β-TM patients.

Objective:To determine if racial disparities exist in maternal and fetal cord serum concentrations of bisphenol A (BPA).Study Design:A nested cross-sectional study was performed from a cohort of 600 term nulliparas. In 27 patients (8 Caucasian, 8 African-American and 11 Hispanic), term pre-labor maternal serum and corresponding fetal-cord serum were analyzed for BPA.Result:African-Americans had the highest maternal serum concentrations, 10-fold higher than Caucasians (30.13 vs 3.14 ng ml(-1); P=0.038). Hispanics had intermediate concentrations with a trend towards higher concentrations compared with Caucasians (24.46 vs 3.14 ng ml(-1); P=0.051). Overall concentrations were 10-fold higher in maternal samples than fetal samples (14.1 vs 1.3 ng ml(-1); P=0.001). Hispanics had higher fetal concentrations than non-Hispanics (2.05 vs 0.35 ng ml(-1); P=0.025).Conclusion:We found significant racial/ethnic differences in maternal/fetal BPA concentrations. Further study is needed to determine if these differences reflect disparities in exposure, metabolism or placental transfer.Journal of Perinatology advance online publication, 8 March 2012; doi:10.1038/jp.2012.12.

Aim:  The abdominal wall is an uncommon site of extrapelvic endometriosis. It usually develops in a previous surgical scar and should be considered in the differential diagnosis of any abdominal swelling. Classical symptoms of endometriosis may resemble abdominal wall lesions such as an incisional hernia, hematoma, granuloma, abscess or various soft tissue tumors; therefore, a definitive preoperative diagnosis is not always easy to determine in every case. The aim of this article is to review the clinical findings, imaging results and histopathology of those of our patients who have had cesarean scar endometriosis. Methods:  Patients diagnosed with abdominal wall endometriosis in their surgical scars from February 2008 to March 2010 were documented. The age, parity, symptoms, previous surgeries, initial diagnosis, diagnostic modalities, definitive operation, postoperative complications, histopathological evaluations and recurrences were recorded and analyzed. Results:  There were 18 patients with a mean age of 34.5 ± 9.6 years. All (100%) had a gradually growing nodular abdominal mass in or adjacent to their cesarean incision scars. This was often associated with pain (83.3%), either noncyclical (26.6%) or cyclical (73.3%) in nature. Ultrasonography (100%), computerized tomography with intravenous contrast (22.2%) and/or magnetic resonance imaging (66.6%) were performed on the patients. All patients underwent surgery and their masses were completely excised. The mean diameter of the removed masses was 3.9 ± 1.4 cm. The final pathological diagnosis for each case was abdominal wall endometriosis. Biannual follow-up examinations for two years revealed that each patient had a complete and uneventful recovery without recurrence. Conclusion:  Abdominal wall endometriosis should be considered in the differential diagnosis of masses located at cesarean section incision scars, which should be excised for definitive diagnosis and treatment.

The copepod, Calanus finmarchicus is a keystone species for the North Atlantic. Because of recent changes in the geographic distribution of this species, there are questions as to how this organism responds physiologically to environmental cues. Molecular techniques allow for examination and new understanding of these physiological changes. Here, we describe the development of a microarray for high-throughput studies of the physiological ecology of C. finmarchicus. An EST database was generated for this species using a normalized cDNA library derived from adult and sub-adult individuals. Sequence data were clustered into contigs and annotated using Blastx. Target transcripts were selected, and unique, 50 base-pair, oligomer probes were generated for 995 genes. Blast2GO processing provided detailed information on gene function. The selected targets included broad representation of biological processes, cellular components, and molecular functions. The microarray was tested in two sets of comparisons: adult females maintained at different food concentrations and field-caught sub-adults showing differences in lipid storage. Up-regulated and down-regulated transcripts were identified for both comparisons. Only a small subset of the genes up-regulated in low food individuals were also up-regulated in lipid-poor animals; no overlap was seen between the genes down-regulated in the two comparisons.

OBJECTIVE: Anal cancer rates have increased in HIV+ patients. The prevalence of anal intraepithelial neoplasias (AINs) and progression to anal cancer in HIV+ men who have sex with men has been well described, and screening is cost-effective. Our objective was to determine whether anal cancer screening in HIV+ women is cost-effective. MATERIALS AND METHODS: A Markov model analysis of 100 HIV+ women was constructed. All women had a CD4 count less than 200 and were assumed to be on antiretrovirals. Rates of AIN were based on previous studies. Progression rates were extrapolated from previous data on HIV+ men who have sex with men. The 5-year model included 3 screening approaches: none, annual, and biennial. Anoscopy and biopsy were performed after an abnormal cytologic result. Low-grade AIN was followed with repeat cytology, and high-grade AIN was treated surgically. Anal cancer was treated surgically followed by chemotherapy and radiation. Sensitivity analyses (SAs) were performed to account for variable rates of AIN progression, anal cancer mortality, and anal cancer and HIV quality-adjusted life years. RESULTS: The incremental cost-effectiveness ratio of biennial anal cancer screening compared to no screening was $34,763. Cost-effectiveness was maintained across all assumptions in SA except for decreased progression rate of high-grade AIN to anal cancer. CONCLUSIONS: Biennial anal cancer screening in HIV+ women with CD4 counts less than 200 is cost-effective. Annual screening was not cost-effective, likely because of the slow progression of AIN to anal cancer. Further data on rates of AIN progression in HIV+ women based on CD4 count are needed to determine whether screening is cost-effective in women with higher CD4 counts.

Ramsay Hunt syndrome is a rare complication of herpes zoster disease in which reactivation of latent varicella zoster virus infection occurs in the geniculate ganglion causing otalgia, unilateral vesicular eruption in a restricted dermatomal distribution, and peripheral facial paralysis. Dermal infections caused by human pathogenic herpes viruses are common in organ transplant recipients. For a transplant surgeon, it is imperative to remember that viral prophylaxis is essential in the follow-up of the transplant patients. Here, we presented a case of renal transplant and Ramsay Hunt syndrome with multiple cranial nerve involvement, with an atypical course. Management and differential diagnosis of this particular case are discussed with a review of the literature.

Leukocyte adhesion deficiency (LAD) is an immunodeficiency caused by defects in the adhesion of leukocytes (especially neutrophils) to the blood vessel wall. As a result, patients with LAD suffer from severe bacterial infections and impaired wound healing, accompanied by neutrophilia. In LAD-I, mutations are found in ITGB2, the gene that encodes the β subunit of the β(2) integrins. This syndrome is characterized directly after birth by delayed separation of the umbilical cord. In the rare LAD-II disease, the fucosylation of selectin ligands is disturbed, caused by mutations in SLC35C1, the gene that encodes a GDP-fucose transporter of the Golgi system. LAD-II patients lack the H and Lewis Le(a) and Le(b) blood group antigens. Finally, in LAD-III (also called LAD-I/variant) the conformational activation of the hematopoietically expressed β integrins is disturbed, leading to leukocyte and platelet dysfunction. This last syndrome is caused by mutations in FERMT3, encoding the kindlin-3 protein in all blood cells that is involved in the regulation of β integrin conformation.

PURPOSE: Granulomatous mastitis (GM) is a rare benign inflammatory breast disease. The clinical presentation of granulomatous mastitis usually mimics malignancy or infection. The aim of this study was to review the clinical and diagnostic features of GM and discuss the medical and surgical treatment of our series of eight GM patients. METHODS: Between 2008 and 2010, eight patients were diagnosed with GM and underwent surgery. Patients were evaluated clinically and radiologically. The diagnosis of GM was confirmed in all cases by core needle or excisional biopsies. Serological tests were performed for rheumatoid factor (RF), antinuclear antibody (ANA), and anti-double-stranded DNA (anti-dsDNA). RESULTS: The mean patient age was 37 years. Common presenting symptoms were a hard mass, pain, inflamed hyperemic skin, and sinus formation. Serological tests for RF were positive in 6 patients, and ANA and anti-dsDNA antibodies were detected in 2 patients. All patients underwent antibiotic therapy before surgery, and were treated with wide surgical excision with negative margins. Methylprednisolone (16 mg/day for 3 months) therapy was used in 3 patients (all RF and 2 ANA/anti-dsDNA positive) following a wide excisional biopsy after a postoperative recurrence mimicking skin lesions was seen. These patients responded well to steroid therapy. CONCLUSIONS: The diagnosis of GM should be made carefully to avoid a misdiagnosis. Steroid therapy should be considered based on the idea that this is an autoimmune disease.