Neuroanatomical Structures in Extraocular Muscles and Their Potential Implication in the Management of Strabismus

2021 ◽  
pp. 117-127

Keywords: extraocular muscles, oculomotor anomalies, sensory receptors, strabismus Key points: • Human extraocular muscles contain neural structures important for the development and maintenance of binocular vision. • Strabismus and other oculomotor anomalies may be attributable to developmental delay or acquired dysfunctions associated with these structures. • Treatment options and their potential implications are discussed.

Author(s):  
Thomas Leipzig

Vascular neurosurgery has long been one of the focal points of neurosurgical practice, and the topic is routinely included in the Oral Board Examination process. Each case involves clinical and diagnostic acumen, a solid grasp of the natural history and treatment risks, consideration of operative approaches, alternative treatment options, and the management of potentially catastrophic complications, as a result of what we have done or what we failed to do. Five cases are discussed in this chapter, and for each case the history and physical symptoms, imaging studies, analyses of the cases and treatment plans, and complications are provided. Key points are also presented after each case. The cases discussed include an aneurysmal subarachnoid hemorrhage (aSAH), an unruptured brain arteriovenous malformation (AVM), an intracerebral hemorrhage (ICH), a spinal dural arteriovenous fistula (dAVF), and symptomatic carotid stenosis.


2020 ◽  
Vol 4 (5) ◽  
pp. 815-818 ◽  
Author(s):  
Yazan Migdady ◽  
Asiri Ediriwickrema ◽  
Ryan Patrick Jackson ◽  
Wendy Kadi ◽  
Ridhi Gupta ◽  
...  

Key Points A source of treatment refractoriness in immune cytopenias appears to be residual CD138/38-positive lymphocyte populations. A short course of daratumumab is a novel treatment of refractory thrombocytopenia after failure of standard treatment options.


Blood ◽  
2013 ◽  
Vol 122 (1) ◽  
pp. 112-123 ◽  
Author(s):  
Daniel H. Wiseman ◽  
Alison May ◽  
Stephen Jolles ◽  
Philip Connor ◽  
Colin Powell ◽  
...  

Key Points A novel clinical syndrome of CSA, B-cell immunodeficiency, periodic fevers, and developmental delay is described. Bone marrow transplant resulted in complete and durable resolution of the hematologic and immunologic manifestations.


2021 ◽  
Author(s):  
Jiao Xue ◽  
Zhenfeng Song ◽  
Shuyin Ma ◽  
Zhi Yi ◽  
Chengqing Yang ◽  
...  

Abstract Heterozygous missense mutations in TUBB3 have been implicated in various neurological disorders encompassing either isolated congenital fibrosis of the extraocular muscles type 3 (CFEOM3) or complex cortical dysplasia with other brain malformations 1 (CDCBM1). The description of seizures in patients with TUBB3 mutations is rare. Here, we reported a patient who had febrile seizures before and focal seizure this time, which was diagnosed as epilepsy in combination with an abnormal EEG. MRI showed hypoplastic corpus callosum. Mutation analysis showed a novel de novo heterozygous variant of TUBB3 gene (NM_006086), c.763G>A (p.V255I). He had global developmental delay, photophobia and elliptic pupil, but lacking extraocular muscles involvement and malformations of cortical development, which might be a less severe phenotype of TUBB3 mutations. This was the first report of elliptic pupil in patients with TUBB3 mutations and expanded the spectrum of TUBB3 phenotypes. It indicated that the phenotypic range of TUBB3 mutations might be more continuous than discrete, with a severity ranging from mild to severe. Further studies are needed to elucidate the complete spectrum of TUBB3-related phenotypes.


Breathe ◽  
2019 ◽  
Vol 15 (4) ◽  
pp. 286-295 ◽  
Author(s):  
Diego Severiche-Bueno ◽  
Enrique Gamboa ◽  
Luis F. Reyes ◽  
Sanjay H. Chotirmall

Non-cystic fibrosis bronchiectasis (NCFB) is a neglected and orphan disease with poor advances through the 20th century. However, its prevalence is rising and with this come new challenges for physicians. Few guidelines are available to guide clinicians on how to diagnose and manage patients with NCFB. Many areas of debate persist, and there is lack of consensus about research priorities most needed to advance patient care and improve clinical outcomes. In this review, we highlight the current hot topics in NCFB and present updated evidence to inform the critical areas of controversy.Key pointsPostural drainage, active cycle of breathing techniques and pulmonary rehabilitation are non-pharmacological treatment options that should be offered to all patients with non-cystic fibrosis bronchiectasis (NCFB).Eradication of Pseudomonas aeruginosa (PA) colonisation in patients without an acute exacerbation remains debatable.Sputum cultures are the leading and most readily available tool to detect patients with chronic colonisation by PA and should be performed in all patients with NCFB.Antibacterial monoclonal antibodies and vaccine studies have shown promising results in the prevention of chronic colonisation with PA and should stimulate new studies in NCFB.NCFB patients colonised with PA are at more risk of a rapid decline in lung function, worsening quality of life and more hospital admissions.Dual therapy is a promising option for the management of patients with PA-related exacerbations.Patients with PA-related exacerbations benefit from prolonged courses of antibiotics (i.e. 14 days) but emerging and future studies, including dual therapy, may show promising results with shorter courses.Endophenotyping bronchiectasis to address its inherent heterogeneity is a promising avenue for future investment and research.


2012 ◽  
Vol 30 (15_suppl) ◽  
pp. e15034-e15034
Author(s):  
Giovannella Palmieri ◽  
Lucia Nappi ◽  
Caterina Condello ◽  
Luigi Formisano ◽  
Piera Federico ◽  
...  

e15034 Background: Optimal management of CSI seminomatous (S) and nonseminomatous (NS) TC is an open question. Quality of life and patient preferences are the principal end-points for the best treatment choice. Multidisciplinary approach is required for CSI TC patients to allow an individualized treatment with a patient-centered approach and an active participation in decisions. The “shared decision making” (SDM) is the prevailing approach because patients together with clinicians arrive at a mutually agreed-on choice. We have a project concerning the involvement of patients with CSI TC in the SDM. Methods: We used some key points of SDM: define the problem; treatment options; discuss pros/cons; clarify patient preferences; clarify the patient’s understanding. Educational material are offered to patients. From 2005 to 2012, 32 patients with CSI TC were evaluated. For each patient some clinical and socio-demographic features, type of treatment chosen and some sequel related to treatment were analyzed. Results: Patients characteristics are reported in the table. 4 S patients chose surveillance, 10 chemotherapy and 6 radiotherapy. 2 NS patients chose surveillance, 9 chemotherapy. 4 relapsed: 1 S patient after 13 months from chemotherapy and 1 during the surveillance after 24 months. 2 NS patients relapsed after 12 and 18 months both during the surveillance. All relapsed patients received chemotherapy. Metabolic alterations were analyzed. 1 S patient treated with chemotherapy had a cardiovascular accident. Conclusions: We observed an high gap between surveillance and the active treatments: there is no best choice for every one so we should improve decision-making process and decision aids into the management of CSI patients with TC. [Table: see text]


2011 ◽  
Vol 2011 ◽  
pp. 1-14 ◽  
Author(s):  
Christian Lottrup ◽  
Søren Schou Olesen ◽  
Asbjørn Mohr Drewes

Pain is common in gastroenterology. This review aims at giving an overview of pain mechanisms, clinical features, and treatment options in oesophageal disorders. The oesophagus has sensory receptors specific for different stimuli. Painful stimuli are encoded by nociceptors and communicated via afferent nerves to the central nervous system. The pain stimulus is further processed and modulated in specific pain centres in the brain, which may undergo plastic alterations. Hence, tissue inflammation and long-term exposure to pain can cause sensitisation and hypersensitivity. Oesophageal sensitivity can be evaluated ,for example, with the oesophageal multimodal probe. Treatment should target the cause of the patient's symptoms. In gastro-oesophageal reflux diseases, proton pump inhibitors are the primary treatment option, surgery being reserved for patients with severe disease resistant to drug therapy. Functional oesophageal disorders are treated with analgesics, antidepressants, and psychological therapy. Lifestyle changes are another option with less documentation.


2017 ◽  
Vol 7 (5) ◽  
pp. 213-220 ◽  
Author(s):  
Erika E. Tillery ◽  
Jennifer N. Clements ◽  
Zach Howard

Abstract Introduction: Multiple sclerosis (MS) is a chronic disease state that affects and disables many people each year. The most common clinical presentation is relapsing-remitting MS (RRMS). In the past 7 years, new medications have been approved for the treatment of RRMS, thereby providing more treatment options for patients and providers. The purpose of this article is to provide an update on medications for the treatment of MS that have been approved since January 2010. Methods: A review was performed utilizing CenterWatch to search for medications approved by the US Food and Drug Administration for the treatment of RRMS between January 2010 and April 2017. The package inserts of medications indicated for RRMS were analyzed, and key points were summarized. PubMed and EBSCOhost were utilized to identify articles relevant to RRMS background and treatment. Results: Seven medications with varying mechanisms of action have been approved to treat RRMS since 2010. Pharmacotherapy options include oral and injectable formulations. Efficacy across the agents is comparable, and each agent has safety data from clinical trials. The safety profile varies between oral and injectable agents, but potential adverse effects are important to consider before initiation. Therapeutic selection is based on patient preference, dosing (frequency and route), and safety considerations. Discussion: Multiple therapeutic options are available for the treatment of RRMS. Health care practitioners should be cognizant of the adverse effects, dosing route, and frequency in order to optimally tailor therapy to meet individual patient needs.


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