Multiscale analysis of SRY-positive 46,XX testicular disorder of sex development: Presentation of nine cases

46,XX testicular disorder of sex development (46,XX TDSD) is a relatively rare condition characterised by the presence of testicular tissue with 46,XX karyotype. The present study aims to reveal the phenotype to genotype correlation in a series of sex-determining region Y (SRY)-positive 46,XX TDSD cases. We present the clinical findings, hormone profiles and genetic test results of six patients with SRY-positive 46,XX TDSD and give the details and follow-up findings of our three of previously published patients. All patients presented common characteristics such as azoospermia, hypergonadotropic hypogonadism and an SRY gene translocated on the terminal part of the short arm of one of the X chromosomes. Mean ± standard deviation (SD) height of the patients was 164.78 ± 8.0 cm. Five patients had decreased secondary sexual characteristics, and three patients had gynaecomastia with varying degrees. Five of the seven patients revealed a translocation between protein kinase X (PRKX) and inverted protein kinase Y (PRKY) genes, and the remaining two patients showed a translocation between the pseudoautosomal region 1 (PAR1) of X chromosome and the differential region of Y chromosome. X chromosome inactivation (XCI) analysis results demonstrated random and skewed XCI in 5 cases and 1 case, respectively. In brief, we delineate the phenotypic spectrum of patients with SRY-positive 46,XX TDSD and the underlying mechanisms of Xp;Yp translocations.     

Diode laser photocoagulation posterior to the ridge in severe stage 3+ threshold retinopathy of prematurity

Purpose: To evaluate the results of diode laser photocoagulation (DLP) of the retina posterior to the ridge in eyes with severe Zone II, Stage 3+ threshold retinopathy of prematurity (ROP).

Method: DLP was applied posterior to the fibrovascular ridge for advanced Zone II, Stage 3+ threshold ROP patients, either as the primary treatment combined with DLP of the avascular retina (group 1), or as a secondary treatment in eyes that had previously undergone DLP of the avascular retina (group 2). Statistical analysis was performed using SPSS software trail version 16.0. Values are presented as mean?±?SD.

Results: A total of 50 eyes of 29 premature infants were treated (14 [48%] male, 15 [52%] female). The mean gestational age was 29.5?±?2.2 weeks (range: 26–34 weeks). The mean birth weight was 1259 0.72?±?409.15?g (range: 500–2050?g). The mean gestational age for DLP of the avascular region anterior to the ridge and DLP posterior to the ridge was 37?±?3 weeks and 38?±?3 weeks, respectively. The mean follow-up was 26?±?5 weeks (18–38 weeks). In 48 eyes, the tractional fibrovascular ridge had regressed. Transient retinal hemorrhage was the most common complication. Three eyes exhibited optic-disc dragging; two eyes progressed to Stage 4a ROP; two eyes presented with macular traction, without any detachment; and one eye developed a vitreous hemorrhage, which resolved spontaneously. There were no statistically significant differences between complicated and uncomplicated eyes regarding gestational age, birth weight and applied laser spot numbers (p?>?0.05 for all, Mann–Whitney U test).

Conclusion: DLP, posterior to the ridge as an additive treatment in the management of severe Zone II, Stage 3+ threshold ROP patients, is safe and effective; this approach could be used as either the primary treatment, or as the follow-up to failed laser treatment of the avascular retina to halt the progression of the disease.     

Rh (D) alloimmunization treated by double filtration plasmapheresis

Here in this report a 31?year old pregnant woman with positive serum antiglobulin test against anti-D antierythrocyte antibodies who was treated succesfully with double filtration plasmapheresis (DFPP) is presented. The DFPP was started in the early stage of pregnancy together with intravenous immunoglobulin therapy and the antierythrocyte antibody titer of the patient was successfully maintained in a stable level below 1:64 dilution. She delivered successfully on the 30th week of gestation. The favorable outcome of this patient implies that DFPP is an effective and safe treatment modality in pregnant women with red cell alloimmunization.     

Prognostic implication of myocardial texture analysis in idiopathic dilated cardiomyopathy.

BACKGROUND AND AIM: Abnormal myocardial acoustic properties have been reported in patients with idiopathic dilated cardiomyopathy (IDC). The aim of this study was to investigate the relationship between quantitative ultrasonic textural alterations of myocardium and clinical outcome in IDC. METHODS: Baseline clinical and echocardiographic variables were obtained from 28 patients with IDC. By using a videodensitometric approach, quantitative myocardial texture analysis was performed on images obtained from septum and posterior wall (PW). Cyclic variation (CV) index of mean gray level (MGL) was calculated according to the formula: (MGLdiast-MGLsyst)/MGLdiastx100. All patients were followed for an average of 11+/-5 months for the occurrence of cardiac death or repeated hospitalization due to worsening of heart failure. RESULTS: During follow-up, 10 patients experienced cardiac events (6 cardiac deaths and 4 heart failure events). The CV indexes of both septum and PW were significantly lower in patients with cardiac events than those of event free patients (6.8+/-9.6% vs. 13.6+/-8.2%, P<0.05 and 5.3+/-6.4% vs.15.7+/-7.2% P<0.001, respectively). Univariate analysis defined the following variables as predictors of outcome: PW-CV index (chi2=13.0, P=0.0003), transmitral E/A ratio (chi2=12.5, P=0.0004), symptom status (chi2=8.7, P=0.003), and septum-CV index (chi2=4.7, P=0.03). Multivariate stepwise regression analysis showed that the PW-CV index (chi2=7.5, P=0.006) and E/A ratio (chi2=6.5, P=0.01) were the independent predictors of outcome. The event-free survival rate of patients with PW-CV index <11% was significantly lower than those with an index > or = 11 (35.7% vs. 92.8%, P=0,001). CONCLUSION: The assessment of severely depressed CV index provides valuable prognostic information in patients with IDC.     

The utility of serum receptor-binding cancer antigen expressed on SiSo cells in gastrointestinal tract cancers.

BACKGROUND: Receptor-binding cancer antigen expressed on SiSo cells (RCAS1) is a novel tumour marker that has been described in various kinds of cancer. The majority of observations include immunohistochemical studies; however, there are not enough data about the utility of this antigen as a serum tumour marker and its tumour specificity. AIM: To measure the serum levels of RCAS1 in patients with gastrointestinal (GI) tract cancers and compare them with other GI tract tumour markers. PATIENTS AND METHODS: Sera collected from patients with GI cancers (14 esophagus, 32 gastric and 36 colon) and from healthy volunteers (30 individuals) were analyzed for RCAS1 and compared with carcinoembryonic antigen (CEA) and cancer antigen 19-9. The relationship between serum RCAS1, tumour stage and tumour grade was also evaluated. RESULTS: Mean serum RCAS1 level was higher in patients with GI tract cancers compared with the control group (P=0.001). Among GI tract cancers, RCAS1 had lowest and highest sensitivity for esophagus and colon cancer diagnosis, respectively. Serum RCAS1 had a higher sensitivity for malignancy, except in the colon, and lower specificity in all groups compared with CEA. In comparison with cancer antigen 19-9, serum RCAS1 was more sensitive but less specific for all GI cancer groups. Mean serum RCAS1 levels were not statistically significant among histopathological tumour types (P>0.05). Although serum RCAS1 levels were significantly higher in cases with lymph node involvement compared with lymph node-negative cases (P=0.009), there was no difference between cases with and without serosal involvement, vascular invasion and distant metastasis; no correlation was found between tumour size and RCAS1 levels. CONCLUSIONS: RCAS1 may be used and combined with CEA as a tumour marker in GI tract cancers.