guide surgical management. To identify modifying genes that explains the risk of fragile X-associated primary ovarian insufficiency (FXPOI). Gene-based, case/control association study, followed by a functional screen of highly ranked genes using a Drosophila model. Participants were recruited from academic and clinical settings. Women with a premutation (PM) who experienced FXPOI at the age of 35 years or younger (n = 63) and women with a PM who experienced menopause at the age of 50 years or older (n = 51) provided clinical information and a deoxyribonucleic acid sample for whole genome sequencing. The functional screen was on the basis of Drosophila TRiP lines. Clinical information and a DNA sample were collected for whole genome sequencing. A polygenic risk score derived from common variants associated with natural age at menopause was calculated and associated with the risk of FXPOI. Genes associated with the risk of FXPOI were identified on the basis of the P-value from gene-based association test and an altered level of fecundity when knocked down in the Drosophila PM model. The polygenic risk score on the basis of common variants associated with natural age at menopause explained approximately 8% of the variance in the risk of FXPOI. Further, SUMO1 and KRR1 were identified as possible modifying genes associated with the risk of FXPOI on the basis of an untargeted gene analysis of rare variants. In addition to the large genetic effect of a PM on ovarian function, the additive effects of common variants associated with natural age at menopause and the effect of rare modifying variants appear to play a role in FXPOI risk. In addition to the large genetic effect of a PM on ovarian function, the additive effects of common variants associated with natural age at menopause and the effect of rare modifying variants appear to play a role in FXPOI risk. Von Hippel-Lindau disease (VHL) is a rare cause of hereditary bilateral Pheochromocytomas (PHEO). Traditionally, treatment has been total adrenalectomy due to a lifetime risk of developing new tumors. Limited data exists on the surgical management of bilateral PHEO in children with VHL. We reviewed our experience with laparoscopic partial adrenalectomy for bilateral PHEO. A retrospective review was performed of patients undergoing adrenalectomy for PHEO in children with VHL from 2004 to 2019. Eight children with VHL diagnosed with bilateral PHEO underwent 16 adrenalectomies (10 synchronous, 5 metachronous, 1 for recurrence). Median age at diagnosis was 13 [range 8-17] years with a median tumor size of 2.3 [range 0.5-7.7]cm. Of 16 adrenalectomies, all were performed laparoscopically, 14 were partial adrenalectomies; 2 patients required a contralateral total adrenalectomy due to size and diffuse multinodularity. There were no postoperative complications. No patients required corticosteroid replacement at the end of the study period. Two patients had new ipsilateral tumors identified after a median follow up of 5 [range 4-6] years with one undergoing repeat partial adrenalectomy. There were no mortalities in the study period. Partial adrenalectomy for bilateral PHEO in patients with VHL is safe and does not compromise outcomes. When technically feasible, laparoscopic partial adrenalectomy should be considered as a primary surgical approach for children with VHL. Level IV - Case series with no comparison group. Level IV - Case series with no comparison group. Despite continual improvement in the methods and devices used for treatment of proximal femoral fractures, unacceptably high failure rates remain. https://www.selleckchem.com/products/anidulafungin-ly303366.html Novel screw-blade implant systems, combining a lag screw with a blade - the latter adding rotational stability to the femoral head - offer improvement of osseous purchase, especially in osteoporotic bone. The aim of this study was to compare biomechanically the head element (HE) anchorage of two screw-blade implant systems differing in blade orientation in the femoral head - vertical versus horizontal. Twenty paired human cadaveric femoral heads were assigned to four groups (n=10), implanted with either Rotationally Stable Screw-Anchor HE (RoSA-HE, vertical blade orientation) or Gamma3 Rotation Control Lag Screw (Gamma-RC, horizontal blade orientation) in center or off-center position, and biomechanically tested until failure under progressively increasing cyclic loading at 2 Hz. Cycles to failure and failure load were significantly higher for Gamma-RC versus. As the stability of the implant system with horizontal blade orientation drops sharply in off-center position, central insertion is its placement of choice. Osteonecrosis of the femoral head (ONFH) can occur after traumatic injuries of the hip. Surgical treatment with total hip arthroplasty (THA) may not produce lifelong viability in younger patients. Free vascularized fibular graft (FVFG) has become a reliable method to delay or even avoid THA in this patient population by aiming to correct loss of viable bone through vascularized autologous bone transfer. The purpose of this study was to evaluate the longevity and outcomes of FVFG for traumatic hip injuries resulting in ONFH. We performed a retrospective review of our institutional database of patients who had undergone FVFG from 1980-2006 for post-traumatic ONFH and had a minimum follow-up of 5 years. Data collected included demographics, pre-operative Urbaniak ONFH staging, Harris Hip scores (HHS), SF-12 scores, and conversion to THA. Seventy-two hips in 68 patients met inclusion criteria. Mean follow-up was 11.6 years (range 5.1-33.2 years). Etiology included femoral neck fracture in 36 patients (61%),ceptable overall THA conversion rate at mid to long term follow-up in Urbaniak stage I through IV hips. FVFG remains a viable option for treatment in younger patients with pre- and post-collapse (stage IV) ONFH lesions secondary to hip trauma. This study sought to elucidate the clinical impact and prognosis of stent graft (SG) thrombosis. The VIABAHN SG offers a favorable outcome in long peripheral artery occlusive disease (PAOD) lesions in the femoropopliteal artery. One concern after SG deployment is the incidence of stent thrombosis and consequent acute limb ischemia (ALI). In this retrospective multicenter study, we collected the clinical data of PAOD patients treated with VIABAHN SG who subsequently experienced SG thrombosis. The clinical symptoms of SG thrombosis, patency after reintervention, and predictors of loss of patency after reintervention were examined. VIABAHN SGs were used for 1,215 patients; SG thrombosis occurred in 159 (13%) patients at a median of 6.4 months (interquartile range 2.8 to 13.5 months) after SG implantation; 21 (13%) patients presented with ALI. A total of 131 (82%) patients underwent reintervention for SG thrombosis, whereas 2 (1%) underwent primary major amputation and the remaining 26 (16%) were treated conservatively.