Comparison of the effects of cilostazol and aspirin on wound healing in patients with diabetic foot ulcer and peripheral artery disease.

Diabetic foot ulcer (DFU) is one of the most feared complications of diabetes mellitus. Studies report that the lifetimerate of developing DFU is 25% for patients with diabetes mellitus. In addition, peripheral artery disease (PAD) is seen in approximately 50% of patients with DFU.

The Effects of Platelet-Rich Plasma to Decrease the Risk of Seroma Formation After Mastectomy and Axillary Dissection.

Background: Seroma, which is the most common complication after mastectomy and axillary dissection, is the leakage of the lymphovascular fluid into the dead space. It can cause local complications varying from delayed wound healing to infection and skin flap necrosis. The aim of this study was to evaluate whether platelet-rich plasma (PRP) reduces the risk of seroma formation.

Phenotypic Screen with TSC-Deficient Neurons Reveals Heat-Shock Machinery as a Druggable Pathway for mTORC1 and Reduced Cilia.

Tuberous sclerosis complex (TSC) is a neurogenetic disorder that leads to elevated mechanistic targeting of rapamycin complex 1 (mTORC1) activity. Cilia can be affected by mTORC1 signaling, and ciliary deficits are associated with neurodevelopmental disorders. Here, we examine whether neuronal cilia are affected in TSC.

Modeling Neurodevelopmental Deficits in Tuberous Sclerosis Complex with Stem Cell Derived Neural Precursors and Neurons.

Tuberous sclerosis complex (TSC) is a rare genetic disorder that is caused by mutations in TSC1 or TSC2. TSC is a multi-organ disorder characterized by development of non-malignant cellular overgrowths, called hamartomas, in different organs of the body. TSC is also characterized as a neurodevelopmental disorder presenting with epilepsy and autism, and formation of cortical malformations ("tubers"), subependymal giant cell astrocytomas (SEGAs), and subependymal nodules (SENs) in the patient's brain.

Synthesis, Characterization, Molecular Docking, and Biological Activities of Some Natural and Synthetic Urolithin Analogs.

Urolithins (that is, hydroxy substituted benzo[c]chromen-6-one derivatives) are formed within the gastrointestinal tract following to the exposure to various ellagitannin rich diet, particularly involving pomegranate, nuts, and berries. Regarding the bioavailability deficiency of ellagitannins, the biological activities obtained through the extracts of these dietaries are attributed to the urolithin compounds, since they are bioavailable. Particularly, there are studies indicating the importance of ellagitannin-rich food for protective and alternative treatment of Alzheimer's Disease (AD).

Pilot Study of Neurodevelopmental Impact of Early Epilepsy Surgery in Tuberous Sclerosis Complex.

Background: To determine if early epilepsy surgery mitigates detrimental effects of refractory epilepsy on development, we investigated surgical and neurodevelopmental outcomes in children with tuberous sclerosis complex who underwent surgery before age two years.

Methods: Prospective multicenter observational study of 160 children with tuberous sclerosis complex. Surgical outcome was determined for the seizure type targeted by surgery.

The acromegaly registry of ten different centers in Turkey.

Objectives: To describe biochemical and clinical features, and therapeutic outcomes of acromegaly patients in Turkey.

Methods: Retrospective multicenter epidemiological study of 547 patients followed in 10 centers of the Turkish Acromegaly registry.

Results: A total of 547 acromegaly patients (55% female) with a median age of 41 was included in this study.

Psychometric Study of the Social Responsiveness Scale in Phelan-McDermid Syndrome.

The Social Responsiveness Scale-2 (SRS-2) is a quantitative measure used to characterize symptoms of autism spectrum disorder (ASD). However, research suggests that SRS-2 scores are significantly influenced by language ability and intellectual disability (ID). Efforts to refine the SRS-2 by Sturm, Kuhfeld, Kasari, and Mccracken [Journal of Child Psychology and Psychiatry, 58(9), 1053-1061] yielded a shortened form, yet its psychometric properties in populations with severe ID remain unknown.

Author Correction: Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

The validity of simplified self-report pain intensity assessment tools in preschool-age children undergoing adenotonsillectomy.

Purpose: To assess the validity of simplified pain scales, including the Simplified Faces Pain Scale (S-FPS) and Simplified Concrete Ordinal Scale (S-COS) in preschool-age children who underwent adenotonsillectomy (T&A) by comparing the values of simplified pain scales with the Faces Pain Scale-Revised (FPS-R) and the Faces, Legs, Activity, Cry, Consolability (FLACC) observational pain scale.

Methods: The present study consisted of 100 pediatric patients between the ages of 3 and 6 years old who had T&A. A two-step pain assessment approach with S-FPS and S-COS and FPS-R and FLACC pain scales was performed with children with the help of their parents or caregivers at the 1st, 6th and 12th hours, and over the 7 days after surgery.

Tau: A Novel Entry Point for mTOR-Based Treatments in Autism Spectrum Disorder?

Dysregulation of the PI3K/Akt/mTOR pathway has become a point of convergence in autism spectrum disorder (ASD). In this issue of Neuron, Tai et al. (2020) identify a therapeutic role for tau reduction in downregulating this pathway and ameliorating ASD-like symptoms.

Auditory Processing of Speech and Tones in Children With Tuberous Sclerosis Complex.

Individuals with Tuberous Sclerosis Complex (TSC) have atypical white matter integrity and neural connectivity in the brain, including language pathways. To explore functional activity associated with auditory and language processing in individuals with TSC, we used electroencephalography (EEG) to examine basic auditory correlates of detection (P1, N2, N4) and discrimination (mismatch negativity, MMN) of speech and non-speech stimuli for children with TSC and age- and sex-matched typically developing (TD) children. Children with TSC (TSC group) and without TSC (typically developing, TD group) participated in an auditory MMN paradigm containing two blocks of vowels (/a/and/u/) and two blocks of tones (800 Hz and 400 Hz).

Tuberous sclerosis: a review of the past, present, and future.

Tuberous sclerosis complex (TSC) is an autosomal dominant, multisystem disorder that is characterized by cellular and tissue dysplasia in several organs. With the advent of genetic and molecular techniques, mutations in the TSC1 or TSC2 genes were discovered to be responsible for mTOR overactivation, which is the underlying mechanism of pathogenesis. TSC is a highly heterogenous clinical entity with variable presentations and severity of disease.

Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52.

Autosomal recessive spastic paraplegia 52 is caused by biallelic mutations in AP4S1 which encodes a subunit of the adaptor protein complex 4 (AP-4). Using next-generation sequencing, we identified three novel unrelated SPG52 patients from a cohort of patients with cerebral palsy. The discovered variants in AP4S1 lead to reduced AP-4 complex formation in patient-derived fibroblasts.

Glucose Lowering Treatment Modalities of Type 2 Diabetes Mellitus.

This chapter gives an overview of present knowledge and clinical aspects of antidiabetic drugs according to the recently available research evidence and clinical expertise.Many agents are acting on eight groups of pathophysiological mechanisms, which is commonly called as "Ominous Octet" by DeFronzo. The muscle, liver and β-cell, the fat cell, gastrointestinal tract, α-cell, kidney, and brain play essential roles in the development of glucose intolerance in type 2 diabetic individuals (Defronzo, Diabetes 58:773-795, 2009).

A novel approach to conducting clinical trials in the community setting: utilizing patient-driven platforms and social media to drive web-based patient recruitment.

Background: Participant recruitment for clinical research studies remains a significant challenge for researchers. Novel approaches to recruitment are necessary to ensure that populations are easier to reach. In the context of rare diseases, social media provides a unique opportunity for connecting with patient groups that have representatively lower diagnosis rates when compared with more common diseases or illness.

Diffusion Tensor Imaging Abnormalities in the Uncinate Fasciculus and Inferior Longitudinal Fasciculus in Phelan-McDermid Syndrome.

Background: This cohort study utilized diffusion tensor imaging tractography to compare the uncinate fasciculus and inferior longitudinal fasciculus in children with Phelan-McDermid syndrome with age-matched controls and investigated trends between autism spectrum diagnosis and the integrity of the uncinate fasciculus and inferior longitudinal fasciculus white matter tracts.

Methods: This research was conducted under a longitudinal study that aims to map the genotype, phenotype, and natural history of Phelan-McDermid syndrome and identify biomarkers using neuroimaging (ClinicalTrial NCT02461420). Patients were aged three to 21 years and underwent longitudinal neuropsychologic assessment over 24 months.

Posterior Neocortex-Specific Regulation of Neuronal Migration by CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5.

Genes mutated in human neuronal migration disorders encode tubulin proteins and a variety of tubulin-binding and -regulating proteins, but it is very poorly understood how these proteins function together to coordinate migration. Additionally, the way in which regional differences in neocortical migration are controlled is completely unknown. Here we describe a new syndrome with remarkably region-specific effects on neuronal migration in the posterior cortex, reflecting de novo variants in CEP85L.

Recent advances in human stem cell-based modeling of Tuberous Sclerosis Complex.

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by epilepsy, intellectual disability, and benign tumors of the brain, heart, skin, and kidney. Animal models have contributed to our understanding of normal and abnormal human brain development, but the construction of models that accurately recapitulate a human pathology remains challenging. Recent advances in stem cell biology with the derivation of human-induced pluripotent stem cells (hiPSCs) from somatic cells from patients have opened new avenues to the study of TSC.

Prognostic role of homeostasis model assessment and oral glucose tolerance test in nondiabetic patients with Bell’s palsy.

Background/aim: We aimed to revealthe incidence and predictive role of insulin resistance and distorted oral glucose tolerance test in nondiabetic patients withBell’s Palsy (BP).

Materials And Methods: Eighty-sixpatients with BP and 28 control subjects; all with normal blood glucose levels and no history of diabetes, were enrolled in the study. We investigated insulin resistance (IR) in all subjects, in terms of HOMA-IR greater than 2.

Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking.

Deficiency of the adaptor protein complex 4 (AP-4) leads to childhood-onset hereditary spastic paraplegia (AP-4-HSP): SPG47 (AP4B1), SPG50 (AP4M1), SPG51 (AP4E1) and SPG52 (AP4S1). This study aims to evaluate the impact of loss-of-function variants in AP-4 subunits on intracellular protein trafficking using patient-derived cells. We investigated 15 patient-derived fibroblast lines and generated six lines of induced pluripotent stem cell (iPSC)-derived neurons covering a wide range of AP-4 variants.