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SRY-negative 46,XX testicular and ovotesticular disorders/differences of sex development (T/OTDSD) represent a very rare and unique DSD condition where testicular tissue develops in the absence of a Y chromosome. To date, very few studies have described the phenotype, clinical and surgical management and long-term outcomes of these patients. Particularly, early blockade of the gonadotropic axis in patients raised in the female gender to minimize postnatal androgenization has never been reported.

Retrospective description of sixteen 46,XX T/OTDSD patients.

Sixteen 46,XX SRY-negative T/OTDSD were included. Most (12/16) were diagnosed in the neonatal period. Sex of rearing was male for six patients and female for ten, while the clinical presentation varied, with an external masculinization score from 1 to 10. Five patients raised as girl were successfully treated with GnRH analog to avoid virilization during minipuberty. Ovotestes/testes were found bilaterally for 54% of the patients and unilaterally for the others (with a contralateral ovary). Gonadal surgery preserved appropriate tissue in the majority of cases. Spontaneous puberty occurred in two girls and one boy, while two boys required hormonal induction of puberty. One of the girls conceived spontaneously and had an uneventful pregnancy. DNA analyses (SNP-array, next-generation sequencing and whole-exome sequencing) were performed. A heterozygous frameshit mutation in the NR2F2 gene was identified in one patient.

This study presents a population of patients with 46,XX SRY-negative T/OTDSD. Early blockade of gonadotropic axis appears efficient to reduce and avoid further androgenization in patients raised as girls.

This study presents a population of patients with 46,XX SRY-negative T/OTDSD. Early blockade of gonadotropic axis appears efficient to reduce and avoid further androgenization in patients raised as girls.Pregnancy in the context of myeloproliferative neoplasms (MPN) poses unique fetal and maternal challenges. Current literature in this regard mostly involves essential thrombocythemia (ET) and less so polycythemia vera (PV) or myelofibrosis. In ET, live birth rate is estimated at 70% with first trimester fetal loss (˜ 30%) as the major complication. Risk of pregnancy-associated complications is higher in PV, thus mandating a more aggressive treatment approach. Herein, we appraise the relevant literature, share our own experience and propose management recommendations. Aspirin therapy may offer protection against fetal loss; however the additive benefit of systemic anticoagulation or cytoreductive therapy, in the absence of high risk disease, is unclear. We recommend cytoreductive therapy in the form of interferon alpha in all high risk and select low-risk ET and PV patients with history of recurrent fetal loss, prominent splenomegaly or suboptimal hematocrit control with phlebotomy. In addition, all women with PV should maintain strict hematocrit control less then 45% with the aid of phlebotomy. Systemic anticoagulation with low molecular weight heparin is advised in patients with history of venous thrombosis. Further clarification awaits prospective clinical trials that implement risk adapted therapeutic interventions.

Previous studies reported reduced decision-making abilities for patients with multiple sclerosis (MS) relative to healthy controls (HC). This study aimed to evaluate whether these problems arise when sampling information or when pondering about the evidence collected.

In a cross-sectional, controlled study, 43 relapsing-remitting MS patients (RRMS; Expanded Disability Status Scale 1.5, range 0-4) and 53 HC performed an information sampling task ('beads task'), a health-related framing task, and neuropsychological background tests.

In the beads task, patients collected as much information as HC prior to a decision. However, there were twice as many patients as HC making irrational decisions, that is, decisions against the evidence collected (RRMS 26/43, 60%; HC 16/53, 30%; p=0.003). Compared to HC, patients also showed a stronger framing effect, that is, they were more strongly biased by the way health-related information was presented (p<0.05, Cohen's d=0.5). Overall, the framing effect predicted whether a participant would make irrational decisions (OR 2.12, 95% CI 1.29-3.49, p<0.001).

Predecisional information sampling is intact in RRMS. However, compared to HC, patients are more likely to make irrational decisions and to be biased by the way health-related information is framed. This warrants caution in communication, especially in the medical context, with patients.

Predecisional information sampling is intact in RRMS. selleck products However, compared to HC, patients are more likely to make irrational decisions and to be biased by the way health-related information is framed. This warrants caution in communication, especially in the medical context, with patients.

There is a dearth of research on suicidal thoughts and behaviors among eating disorder patients diagnosed with binge eating disorder (BED) or other specified feeding or eating disorder (OSFED). This pilot study evaluated presence and severity of suicidal thoughts and behaviors by eating disorder diagnosis in a transdiagnostic clinical eating disorder sample.

Participants were individuals (N = 257; 91.1% female; 94.6% Caucasian) currently receiving eating disorder treatment for anorexia nervosa (AN), bulimia nervosa (BN), BED, or OSFED. Participants completed online measures of variables.

Lifetime and current presence and severity of suicidal ideation and suicide attempts were statistically similar among diagnostic groups.

Though largely overlooked, treatment-utilizing individuals with BED and OSFED may experience elevated rates and severity of suicidal thoughts and behaviors, like those with AN and BN. Attention to suicide-related risk assessment and management is needed when treating individuals with eating disorders, regardless of diagnosis.

Though largely overlooked, treatment-utilizing individuals with BED and OSFED may experience elevated rates and severity of suicidal thoughts and behaviors, like those with AN and BN. Attention to suicide-related risk assessment and management is needed when treating individuals with eating disorders, regardless of diagnosis.