Segmental spinal dysgenesis associated with occult dysraphism: Considerations on management strategies.
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ABSTRACT:
SUBMITTER: Cacciola F
PROVIDER: S-EPMC5490349 | biostudies-other | 2017 Apr-Jun
REPOSITORIES: biostudies-other
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Project description:Individuals born on the spectrum of genetic abnormalities known as mixed gonadal dysgenesis (MGD) have a wide range of anatomical findings and management can be challenging in the newborn and adolescent. Historically, many individuals with MGD have undergone gonadectomy to avert the risk of gonadal malignancy. However, gonadectomy deprives patients of the benefits of their endogenous hormones, potential fertility, and in the case with MGD, has historically been done prior to addressing gender identity. Some patient advocates have proposed a delayed approach to surgical reconstructions and/or gonadectomy in other differences/disorders of sex development (DSD), particularly in patients with congenital adrenal hyperplasia and androgen insensitivity syndrome. In many areas of the world, there continues to be a shift toward delayed reconstructions and hesitancy regarding irreversible gonadectomy. To date, no clinical management protocol addressing these issues from a patient-centered approach has been described. We review what is known about malignancy risk and propose a management protocol for those with MGD that involves shared decision making regarding the gonads and addresses the long-term challenges with regard to gender and anatomy.
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Project description:BackgroundSentinel node biopsy (SLNB) is not routinely recommended for patients undergoing prophylactic mastectomy (PM), yet omission remains a subject of debate among surgeons. A modern patient cohort was examined to determine occult malignancy (OM) incidence within PM specimens to reinforce current recommendations.MethodsAll PM performed over a 5-year period were retrospectively identified, including women with unilateral breast cancer who underwent synchronous or delayed contralateral PM or women with elevated cancer risk who underwent bilateral PM.ResultsThe study population included 772 patients (598 CPM, 174 BPM) with a total of 39 OM identified: 17 invasive cancers (14 CPM, 3 BPM) and 22 DCIS (19 CPM, 3 BPM). Of the 86 patients for whom SLNB was selectively performed, 1 micrometastasis was identified. In the CPM cohort, risk of OM increased with age, presence of LCIS of either breast, or presence of a non-BRCA high-penetrance gene mutation, while preoperative magnetic resonance imaging was associated with lower likelihood of OM.ConclusionsGiven the low incidence of invasive OM in this updated series, routine SLNB is of low value for patients undergoing PM. For patients with indeterminate radiographic findings, discordant preoperative biopsies, LCIS, or non-BRCA high-penetrance gene mutations, selective SLNB implementation could be considered.
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Project description:Loss of control over voiding following spinal cord injury (SCI) impacts autonomy, participation and dignity, and can cause life-threatening complications. The importance of SCI bowel and bladder dysfunction warrants significantly more attention from researchers in the field. To address this gap, key SCI clinicians, researchers, government and private funding organizations met to share knowledge and examine emerging approaches. This report reviews recommendations from this effort to identify and prioritize near-term treatment, investigational and translational approaches to addressing the pressing needs of people with SCI.
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Project description:Motor output varies along the rostro-caudal axis of the tetrapod spinal cord. At limb levels, ∼60 motor pools control the alternation of flexor and extensor muscles about each joint, whereas at thoracic levels as few as 10 motor pools supply muscle groups that support posture, inspiration, and expiration. Whether such differences in motor neuron identity and muscle number are associated with segmental distinctions in interneuron diversity has not been resolved. We show that select combinations of nineteen transcription factors that specify lumbar V1 inhibitory interneurons generate subpopulations enriched at limb and thoracic levels. Specification of limb and thoracic V1 interneurons involves the Hox gene Hoxc9 independently of motor neurons. Thus, early Hox patterning of the spinal cord determines the identity of V1 interneurons and motor neurons. These studies reveal a developmental program of V1 interneuron diversity, providing insight into the organization of inhibitory interneurons associated with differential motor output.
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Project description:The majority of spinal cord injury (SCI) patients have urinary issues, such as incontinence, retention, and frequency. These problems place a significant burden on patients' physical health and quality of life (QoL). There are a wide variety of bladder management strategies available to patients with no clear guidelines on appropriate selection. Inappropriate bladder management can cause hospitalizations and serious complications, such as urosepsis and renal failure. Patients believe that both independence and ability to carry out daily activities are just as important as physical health in selecting the right bladder-management strategy but little is known about patient's QoL with different bladder managements. Our study's aim is to assess patient reported QoL measures with various bladder managements after SCI. This manuscript describes the approach, study design and common data elements for our central study.This is a multi-institutional prospective cohort study comparing three different bladder-management strategies (clean intermittent catheterization, indwelling catheters, and surgery). Information collected from participants includes demographics, past medical and surgical history, injury characteristics, current and past bladder management, and SCI /bladder-related complications. Patient reported outcomes and QoL questionnaires were administered at enrollment and every 3 months for 1 year. Aims of this study protocol are: (1) to assess baseline QoL differences between the three different bladder-management strategies; (2) determine QoL impact when those using either form of catheter management undergo a surgery over the 1 year of follow-up among patients eligible for surgery; (3) assess the effects of changes in bladder management and complications on QoL over a 1-year longitudinal follow-up.By providing information about patient-reported outcomes associated with different bladder management strategies after SCI, and the impact of bladder management changes and complications on QoL, this study will provide essential information for shared decision-making and guide future investigation.Trial registration number: www.clinicaltrials.gov : Identifier: NCT0261608; U.S. National Library of Medicine, wwwcf.nlm.nih.gov : Identifier: HSRP20153564.
| S-EPMC5635498 | biostudies-literature
Project description:PurposeDiarrhea is recognized as a common adverse event associated with tyrosine kinase inhibitors (TKIs), with those targeting the ErbB family of receptors being associated with the highest rate of diarrhea.MethodsThis paper reviews data on the incidence, timing, and duration of diarrhea associated with US Food and Drug Administration-approved ErbB family-targeted TKIs from the published literature, and sets forth recommendations for management.ResultsIn the absence of anti-diarrheal prophylaxis the incidence of any-grade diarrhea varies and typically occurs early during the course of treatment. Although it is difficult to determine if the incidence and severity of diarrhea is related to inhibition of a particular kinase target because of the multi-targeted and overlapping activity of many agents, evidence suggests that second-generation TKIs with broader target profiles (i.e., afatinib, lapatinib, neratinib) result in a higher incidence of diarrhea compared with highly specific first- (erlotinib, gefitinib) or third- (osimertinib) generation agents. The mechanisms responsible for TKI-associated diarrhea are not fully understood and are likely multi-factorial, involving dysregulated ion transport, inflammation, and mucosal injury. Management strategies have been developed-and continue to be refined-to prevent and reduce the severity and duration of TKI-associated diarrhea. For agents associated with more significant symptoms, anti-diarrheal prophylaxis reduces the incidence and severity of diarrhea, and ongoing studies are evaluating specific strategies to further reduce incidence and duration of TKI-associated diarrhea.ConclusionsContinued investigations into risk factors and pharmacogenomic markers for diarrhea may further improve management of this common toxicity.
| S-EPMC6491395 | biostudies-literature
Project description:BackgroundExisting hardware may contribute to increased risk of bacterial contamination and subsequent periprosthetic joint infection (PJI) in conversion shoulder arthroplasty performed for failed fracture fixation.Questions/purposesThis study examined the incidence of positive pre-operative aspiration and inflammatory marker data, along with correlation of pre-operative positive aspiration or inflammatory markers and subsequent infection following conversion shoulder arthroplasty for failed open reduction and internal fixation (ORIF) and the need for re-operation at 4.6-year follow-up.MethodsTwenty-eight patients who underwent conversion to shoulder arthroplasty for any reason after fracture fixation were retrospectively reviewed in a single center. A pre-operative aspiration was done in 17 patients; all patients had intra-operative tissue sampling. All procedures were single-stage removal of hardware and performance of the arthroplasty. In cases of pre-operative positive bacterial growth, a single-stage procedure was performed according to the septic ENDO-Klinik protocol.ResultsIn 4 of 17 pre-operative joint aspirations, bacterial growth was detected; one pre-operative negative aspiration demonstrated bacterial growth in intra-operative sampling. In three of them, the infection has been validated through intra-operatively results. Pre-operative aspiration showed a sensitivity of 75% and specificity of 92% (p?<?0.005) for infection. No post-operative PJIs were observed. Six revisions were performed, most commonly for aseptic loosening (two cases) and conversion of hemiarthroplasty to a reverse design (two cases).ConclusionsIn conclusion, the risk of low-grade shoulder infection after fracture osteosynthesis may be higher than in hip and knee joints, based on limited study data. Adequate pre-operative testing is recommended to rule out occult shoulder infection in this setting.
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Project description:Spinal cord circuits play crucial roles in transmitting pain, but the underlying activity patterns within and across spinal segments in behaving mice have remained elusive. We developed a wearable widefield macroscope with a 7.9-mm2 field of view, ~3- to 4-μm lateral resolution, 2.7-mm working distance and <10-g overall weight and show that highly localized painful mechanical stimuli evoke widespread, coordinated astrocyte excitation across multiple spinal segments.
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Project description:The coronavirus disease 2019 (COVID-19) pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is the most formidable challenge to humanity in a century. It is widely believed that prepandemic normalcy will never return until a safe and effective vaccine strategy becomes available and a global vaccination programme is implemented successfully. Here, we discuss the immunological principles that need to be taken into consideration in the development of COVID-19 vaccine strategies. On the basis of these principles, we examine the current COVID-19 vaccine candidates, their strengths and potential shortfalls, and make inferences about their chances of success. Finally, we discuss the scientific and practical challenges that will be faced in the process of developing a successful vaccine and the ways in which COVID-19 vaccine strategies may evolve over the next few years.
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Project description:Spinal cord injury (SCI) results in a multitude of metabolic co-morbidities that can be managed by exercise. As in the non-injured population, manipulation of exercise intensity likely allows for fruitful optimization of exercise interventions targeting metabolic health in persons with SCI. In this population, interventions employing circuit resistance training (CRT) exhibit significant improvements in outcomes including cardiorespiratory fitness, muscular strength, and blood lipids, and recent exploration of high intensity interval training (HIIT) suggests the potential of this strategy to enhance health and fitness. However, the neurological consequences of SCI result in safety considerations and constrain exercise approaches, resulting in the need for specialized exercise practitioners. Furthermore, transportation challenges, inaccessibility of exercise facilities, and other barriers limit the translation of high intensity "real world" exercise strategies. Delivering exercise via online ("virtual") platforms overcomes certain access barriers while allowing for broad distribution of high intensity exercise despite the limited number of population-specific exercise specialists. In this review, we initially discuss the need for "real world" high intensity exercise strategies in persons with SCI. We then consider the advantages and logistics of using virtual platforms to broadly deliver high intensity exercise in this population. Safety and risk mitigation are considered first followed by identifying strategies and technologies for delivery and monitoring of virtual high intensity exercise. Throughout the review, we discuss approaches from previous and ongoing trials and conclude by giving considerations for future efforts in this area.
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