scholarly journals Arthrogryposis Multiplex Congenita: A Review of Treatment Options for the Lower Extremities

2003 ◽  
Vol 82 (5) ◽  
pp. 390-393 ◽  
Author(s):  
Gideon Bahar ◽  
Daniel Mimouni ◽  
Meora Feinmesser ◽  
Michael David ◽  
Aharon Popovzer ◽  
...  

Calciphylaxis is a rare disorder in patients with chronic renal failure that is characterized by ischemic necrotic skin lesions. The prognosis is grave and mortality is high (80%). The precise mechanism of calciphylaxis is still unknown, but in addition to chronic renal failure, elevated parathyroid hormone levels appear to play a role. The role of parathyroidectomy in treating affected patients is questionable. In this article, we describe the case of a patient with chronic renal failure who developed rapidly progressive subcutaneous calcifications and ulcerations in the lower extremities. These lesions regressed following subtotal parathyroidectomy. We also review the literature on calciphylaxis, with a focus on treatment options.


2015 ◽  
Vol 9 (1) ◽  
pp. 463-474 ◽  
Author(s):  
M.E Pedersen ◽  
M.P DaCambra ◽  
Z Jibri ◽  
S Dhillon ◽  
H Jen ◽  
...  

Chondral and osteochondral fractures of the lower extremities are important injuries because they can cause pain and dysfunction and often lead to osteoarthritis. These injuries can be misdiagnosed initially which may impact on the healing potential and result in poor long-term outcome. This comprehensive review focuses on current pitfalls in diagnosing acute osteochondral lesions, potential investigative techniques to minimize diagnostic errors as well as surgical treatment options. Acute osteochondral fractures are frequently missed and can be identified more accurately with specific imaging techniques. A number of different methods can be used to fix these fractures but attention to early diagnosis is required to limit progression to osteoarthritis. These fractures are common with joint injuries and early diagnosis and treatment should lead to improved long term outcomes.


2005 ◽  
Vol 95 (2) ◽  
pp. 167-170 ◽  
Author(s):  
Michael A. Schreck

Melorheostosis is a nonhereditary and uncommon condition that can affect both adults and children. It can appear on radiographs as increased sclerosis on bones of the upper and lower extremities and may mimic other bony conditions such as osteopoikilosis, osteopetrosis, arthrogryposis multiplex congenita, and osteopathia striata. The sclerotic appearance can differ greatly between adults and children. The skin and subcutaneous tissues may be affected by fibrosis, resulting in contractures of joints and limbs that lead to deformities and limb-length discrepancies. This article reviews the literature on melorheostosis and describes a case in a 10-year-old boy. (J Am Podiatr Med Assoc 95(2): 167–170, 2005)


Author(s):  
V. Yu. Bogachev ◽  
B. V. Boldin ◽  
S. V. Rodionov ◽  
P. Yu. Golosnitskiy ◽  
I. M. Dizengoff

Venous aneurysms continue to be one of the little studied sections of modern vascular surgery. Messages on the occurrence of this pathology in the medical literature are very few and describe extremely rare clinical cases, localized mainly in the deep veins of the lower extremities and leading to thromboembolic complications. Single publications describe venous aneurysms localized in superficial saphenous veins. The etiology and pathogenesis of this disease currently continues to cause debate. The article provides a literature review on this rare surgical vascular pathology, presents its own clinical observation, discusses the issues of diagnosis and treatment options for this disease.


Author(s):  
Nguyen Van Viet Thanh ◽  
Nguyen Hoai Nam

Lower limb chronic venous insufficiency is a commonly seen disease which accounted for 40.5% of people over the age of 50 years old with females having 4.25 higher prevalence compared with males [23]. The lesions could be observed in superficial, perforating, deep veins or all three venous systems in the lower extremities [2]. Superficial veins in particular could be classified in 3 groups: chronic venous insufficiency, varicose veins, and thrombophlebitis. The treatment options of lower limb chronic venous insufficiency in general and chronic venous insufficiency – varicose veins are grouped in two major categories: medication/intervention and surgery. Since 1980s-1990s, endovascular interventions for the treatment of superficial venous insufficiency – varicose veins were introduced and were the new advancement in the treatment of lower limb venous insufficiency disorders [3, 7, 11, 12, 16] .


2019 ◽  
Vol 3 (1) ◽  
pp. 97-105
Author(s):  
Mary Zuccato ◽  
Dustin Shilling ◽  
David C. Fajgenbaum

Abstract There are ∼7000 rare diseases affecting 30 000 000 individuals in the U.S.A. 95% of these rare diseases do not have a single Food and Drug Administration-approved therapy. Relatively, limited progress has been made to develop new or repurpose existing therapies for these disorders, in part because traditional funding models are not as effective when applied to rare diseases. Due to the suboptimal research infrastructure and treatment options for Castleman disease, the Castleman Disease Collaborative Network (CDCN), founded in 2012, spearheaded a novel strategy for advancing biomedical research, the ‘Collaborative Network Approach’. At its heart, the Collaborative Network Approach leverages and integrates the entire community of stakeholders — patients, physicians and researchers — to identify and prioritize high-impact research questions. It then recruits the most qualified researchers to conduct these studies. In parallel, patients are empowered to fight back by supporting research through fundraising and providing their biospecimens and clinical data. This approach democratizes research, allowing the entire community to identify the most clinically relevant and pressing questions; any idea can be translated into a study rather than limiting research to the ideas proposed by researchers in grant applications. Preliminary results from the CDCN and other organizations that have followed its Collaborative Network Approach suggest that this model is generalizable across rare diseases.


2019 ◽  
Vol 28 (2) ◽  
pp. 245-250
Author(s):  
Ann E. Perreau ◽  
Richard S. Tyler ◽  
Patricia C. Mancini ◽  
Shelley Witt ◽  
Mohamed Salah Elgandy

Purpose Audiologists should be treating hyperacusis patients. However, it can be difficult to know where to begin because treatment protocols and evidence-based treatment studies are lacking. A good place to start in any tinnitus and hyperacusis clinic is to incorporate a group educational session. Method Here, we outline our approach to establishing a hyperacusis group educational session that includes specific aspects of getting to know each patient to best meet their needs, understanding the problems associated with hyperacusis, explaining the auditory system and the relationship of hyperacusis to hearing loss and tinnitus, describing the influence of hyperacusis on daily life, and introducing treatment options. Subjective responses from 11 adults with hyperacusis, who participated in a recent clinical group education session, were discussed to illustrate examples from actual patients. Conclusions Due to the devastating nature of hyperacusis, patients need to be reassured that they are not alone and that they can rely on audiologists to provide support and guidance. A group approach can facilitate the therapeutic process by connecting patients with others who are also affected by hyperacusis, and by educating patients and significant others on hyperacusis and its treatment options. Supplemental Material https://doi.org/10.23641/asha.8121197


2016 ◽  
Vol 1 (13) ◽  
pp. 162-168
Author(s):  
Pippa Hales ◽  
Corinne Mossey-Gaston

Lung cancer is one of the most commonly diagnosed cancers across Northern America and Europe. Treatment options offered are dependent on the type of cancer, the location of the tumor, the staging, and the overall health of the person. When surgery for lung cancer is offered, difficulty swallowing is a potential complication that can have several influencing factors. Surgical interaction with the recurrent laryngeal nerve (RLN) can lead to unilateral vocal cord palsy, altering swallow function and safety. Understanding whether the RLN has been preserved, damaged, or sacrificed is integral to understanding the effect on the swallow and the subsequent treatment options available. There is also the risk of post-surgical reduction of physiological reserve, which can reduce the strength and function of the swallow in addition to any surgery specific complications. As lung cancer has a limited prognosis, the clinician must also factor in the palliative phase, as this can further increase the burden of an already compromised swallow. By understanding the surgery and the implications this may have for the swallow, there is the potential to reduce the impact of post-surgical complications and so improve quality of life (QOL) for people with lung cancer.


2012 ◽  
Vol 21 (3) ◽  
pp. 75-84
Author(s):  
Venkata Vijaya K. Dalai ◽  
Jason E. Childress ◽  
Paul E Schulz

Dementia is a major public health concern that afflicts an estimated 24.3 million people worldwide. Great strides are being made in order to better diagnose, prevent, and treat these disorders. Dementia is associated with multiple complications, some of which can be life-threatening, such as dysphagia. There is great variability between dementias in terms of when dysphagia and other swallowing disorders occur. In order to prepare the reader for the other articles in this publication discussing swallowing issues in depth, the authors of this article will provide a brief overview of the prevalence, risk factors, pathogenesis, clinical presentation, diagnosis, current treatment options, and implications for eating for the common forms of neurodegenerative dementias.


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