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Between 50 and 80% of very preterm infants ( less then 32 weeks gestational age) exhibit increased white matter signal intensity on T2-weighted MRI at term-equivalent age, known as diffuse white matter abnormality (DWMA). A few studies have linked DWMA with microstructural abnormalities, but the exact relationship remains poorly understood. We related DWMA extent to graph theory measures of network efficiency at term in a representative cohort of 343 very preterm infants. We performed anatomic and diffusion MRI at term and quantified DWMA volume with our novel, semi-automated algorithm. From diffusion-weighted structural connectomes, we calculated the graph theory metrics local efficiency and clustering coefficient, which measure the ability of groups of nodes to perform specialized processing, and global efficiency, which assesses the ability of brain regions to efficiently combine information. We computed partial correlations between these measures and DWMA volume, adjusted for confounders. Increasing DWMA volume was associated with decreased global efficiency of the entire very preterm brain and decreased local efficiency and clustering coefficient in a variety of regions supporting cognitive, linguistic, and motor function. We show that DWMA is associated with widespread decreased brain network efficiency, suggesting that it is pathologic and likely has adverse developmental consequences.

Inflatable penile prostheses (IPP) consist of 2 cylinders implanted into the corpora cavernosa, a pump placed in the scrotum, and a saline-filled reservoir traditionally placed in the space of Retzius. IPPs are used to treat refractory erectile dysfunction with few rare, but serious, complications. Cases of reservoirs causing erosion into the bladder, small bowel obstructions, vascular compression, and inguinal herniation have been described.

We highlight the importance of keeping a broad differential diagnosis when assessing patients with bowel obstructions.

A 68-year-old man with a previous IPP placement presented with left lower quadrant abdominal pain, constipation and obstipation for 5 days. On exam, he was afebrile, and noted to have a firm, distended, tympanic abdomen. CT scan showed a distended cecum at 11 cm, narrowing of the proximal sigmoid with adjacent inflammatory changes, and minimal peri-colonic air, suggestive of a localized perforation. The IPP reservoir was seen in the left iliac fossA, etal. A Case Report of Large Bowel Obstruction in a Patient With an Inflatable Penile Prosthesis. Sex Med 2021;9100391.

Although complications related to IPPs, including bowel obstructions, have been previously described in the literature, treatment for large bowel obstructions must take into account all possible etiologies, including malignancy. Atri E, Mallory C, Perez A, et al. A Case Report of Large Bowel Obstruction in a Patient With an Inflatable Penile Prosthesis. Sex Med 2021;9100391.We present a case of Huntington's Disease (HD) with two reduced penetrance alleles and show that age of onset and motor symptoms are comparable to heterozygous patients with the same number of CAG triplet repeats. We performed a review of the literature on clinical presentation of homozygous HD cases and highlight that, so far, evidence exists that HD is a truly dominant disorder. This has important implications for pathophysiology concepts of the disease.

Patients with ideomotor apraxia (IMA) present with selective impairments in higher-order motor cognition and execution without damage to any motor or sensory pathways. Although extensive research has been conducted to determine the regions of interest (ROIs) underlying these unique impairments, previous models are heterogeneous and may be further clarified based on their structural connectivity, which has been far less described.

The goal of this research is to propose an anatomically concise network model for the neurophysiologic basis of IMA, specific to the voluntary pantomime, imitation and tool execution, based on intrinsic white matter connectivity.

We utilized meta-analytic software to identify relevant ROIs in ideomotor apraxia as reported in the literature based on functional neuroimaging data with healthy participants. After generating an activation likelihood estimation (ALE) of relevant ROIs, cortical parcellations overlapping the ALE were used to construct an anatomically precise model of aification is necessary with voxel-based lesion studies of IMA to further refine these findings.

We constructed a preliminary model demonstrating the underlying structural interconnectedness of anatomic substrates involved in higher-order motor functioning which is seen impaired in IMA. Our model provides support for previous dual-stream processing frameworks discussed in the literature, but further clarification is necessary with voxel-based lesion studies of IMA to further refine these findings.

We aimed to determine whether fecal microbiota transplant (FMT) is safe and possibly efficacious in treating constipation, motor, and non-motor symptoms in Parkinson's disease (PD) patients.

Patients with PD, constipation and an indication for screening colonoscopy were treated with FMT. The study was conducted from December 2017 to November 2019, and clinical outcomes assessing motor, non-motor and constipation symptoms were compared at baseline (week 0) and at 2, 4, 8, 12, 16, 20, and 24 weeks after the FMT.

Six patients (3 men, age range 47-73, median age 52) were treated with FMT. Four weeks following the FMT, motor, non-motor and constipation scores were improved in 5 of 6 patients. At week 24, compared to before the FMT, the changes in motor scores ranged from -13-7 points, in non-motor scores from -2 to -45 points, and in constipation scores from -12-1 point. One patient had a serious adverse event requiring admission for observation only, and no adverse events were observed in all other patients.

In this preliminary uncontrolled case series of 6 PD patients, a treatment with donor FMT infused via colonoscopy, was safe and resulted in improvement of PD motor and non-motor symptoms, including constipation, at 6 months. Further research is needed to assess longer-term maintenance of efficacy and safety, including in large scale randomized controlled trials.

ClinicalTrials.gov - NCT03876327.

ClinicalTrials.gov - NCT03876327.

Deep brain stimulation (DBS) is an effective treatment for motor disturbance in people with primary dystonia (PWD). Numerous factors are considered by an interdisciplinary consensus conference before deciding candidacy for DBS surgery (e.g., demographic, medical, cognitive, and behavioral factors). However, little is known about which of these factors are associated with PWD DBS surgery consensus conference decisions.

Our goal was to examine whether pre-operative demographic, medical, and cognitive/behavioral variables are associated DBS consensus conference decisions in patients with dystonia.

Thirty-two PWD completed comprehensive presurgery workup included neurological and neuropsychological exams, and neuroimaging in consideration for DBS surgery. An interdisciplinary conference committee either recommended or did not recommend DBS surgery based upon these data. Demographic and medical data (e.g., dystonia disease characteristics, medical comorbidities, medications) were also collected. We also examultifactorial process. We found that deficits in executive functioning were associated with the DBS consensus committee decision. Veliparib We also observed elevated cardiac risk among these individuals, likely reflecting the relation between vascular health and cognition. Implications, and clinical and scientific applications of these findings are discussed.

Studies have reported that the combination of some prothrombotic genotypes and overt cancer yields a synergistic effect on VTE risk. Whether individual prothrombotic genotypes or number of risk alleles in a genetic risk score (GRS) affect VTE risk in occult cancer have not been addressed. The aim of this study was to investigate the joint effect of five prothrombotic genotypes and occult cancer on VTE risk.

Cases with incident VTE (n=1566) and a subcohort (n=14,537) were sampled from the Scandinavian Thrombosis and Cancer Cohort (1993-2012). Five single nucleotide polymorphisms previously reported in a GRS were genotyped ABO (rs8176719), F5 (rs6025), F2 (rs1799963), FGG (rs2066865) and F11 (rs2036914). Hazard ratios (HRs) for VTE by individual SNPs and GRS were estimated according to non-cancer and occult cancer (one year preceding a cancer diagnosis) exposure.

Occult cancer occurred in 1817 subjects, and of these, 93 experienced a VTE. The VTE risk was 4-fold higher (HR 4.05, 95% CI 3.28-5.00) in subjects with occult cancer compared with those without cancer. Among subjects with occult cancer, those with VTE had a higher proportion of prothrombotic and advanced cancers than those without VTE. The VTE risk increased according to individual prothrombotic genotypes and GRS in cancer-free subjects, while no such effect was observed in subjects with occult cancer (HR for ≥4 versus ≤1 risk alleles in GRS 1.14, 95% CI 0.61-2.11).

Five well-established prothrombotic genotypes, individually or combined, were not associated with increased risk of VTE in individuals with occult cancer.

Five well-established prothrombotic genotypes, individually or combined, were not associated with increased risk of VTE in individuals with occult cancer.

Acute pulmonary embolism (PE) is a leading cardiovascular cause of death, resembling a common indication for emergency computed tomography (CT). Nonetheless, in clinical routine most CTs performed for suspicion of PE excluded the suspected diagnosis. As patients with low to intermediate risk for PE are triaged according to the d-dimer, its relatively low specifity and widespread elevation among elderly might be an underlying issue. Aim of this study was to find potential predictors based on initial emergency blood tests in patients with elevated d-dimers and suspected PE to further increase pre-test probability.

In this retrospective study all patients at the local university hospital's emergency room from 2009 to 2019 with suspected PE, emergency blood testing and CT were included. Cluster analysis was performed to separate groups with distinct laboratory parameter profiles and PE frequencies were compared. Machine learning algorithms were trained on the groups to predict individual PE probability based on emergency laboratory parameters.

Overall, PE frequency among the 2045 analyzed patients was 41%. Three clusters with significant differences (p≤0.05) in PE frequency were identified C1 showed a PE frequency of 43%, C2 40% and C3 33%. Laboratory parameter profiles (e.g. creatinine) differed significantly between clusters (p≤0.0001). Both logistic regression and support-vector machines were able to predict clusters with an accuracy of over 90%.

Initial blood parameters seem to enable further differentiation of patients with suspected PE and elevated d-dimers to raise pre-test probability of PE. Machine-learning-based prediction models might help to further narrow down CT indications in the future.

Initial blood parameters seem to enable further differentiation of patients with suspected PE and elevated d-dimers to raise pre-test probability of PE. Machine-learning-based prediction models might help to further narrow down CT indications in the future.

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