Kelley-Seegmiller Syndrome: Urolithiasis, Renal Uric Acid Deposits, and Gout: What is the Role of the Urologist?

Kelley-Seegmiller syndrome (KSS) is a disorder that occurs when there is a partial deficiency of the enzyme hypoxanthine guanine phosphoribosyl transferase. It is involved in the metabolism of purines, clinically manifesting as hyperuricemia, hyperuricosuria, gout arthritis, and urolithiasis. The aim of this article is to present the case of a 33-year-old male with KSS, with left ureteral colic, and a 5-mm, 323-HU ureteral calculi, successfully managed with conservative management. It is critical to recognize that most urologists are not familiar with this inborn metabolic error and 75% of these patients will be affected by urolithiasis, thus making it a very critical and significant disease in our practice.Urol Int
Source: Urologia Internationalis - Category: Urology & Nephrology Source Type: research

Related Links:

AbstractPurpose of ReviewThe purpose of this review is to discuss the literature on associations between vitamin D and periodontal disease, including its strengths and weaknesses. Future direction for continued work in this area is provided.Recent FindingsResearch in cross-sectional cohorts, surveys, and case-control studies provide support for a role of vitamin D in periodontal disease, especially using clinical indicators such as bleeding on probing and clinical attachment loss. However, these studies have a number of limitations. They cannot establish temporality of these associations. Most case-control studies have bee...
Source: Current Oral Health Reports - Category: Dentistry Source Type: research
Publication date: Available online 18 January 2020Source: Joint Bone SpineAuthor(s): Codrina Ancuţa, Cristina Pomîrleanu, Claudia Mihailov, Rodica Chirieac, Eugen Ancuţa, Cristina Iordache, Codruţa Bran, Oana ȚănculescuAbstractObjective: Despite a widely recognized bidirectional pathobiologic relationship between rheumatoid arthritis (RA) and periodontal disease, the impact of innovative anti-rheumatic drugs in modulating not only inflammatory and immune articular damage, but also periodontal microenvironment remains debatable. We aimed to evaluate the periodontal status in RA with and without baricitinib, a Jan...
Source: Joint Bone Spine - Category: Orthopaedics Source Type: research
Publication date: Available online 18 January 2020Source: Gynecologic Oncology ReportsAuthor(s): Bijan Morshedi, Kari RingAbstractPemphigus is a group of autoimmune intraepidermal blistering diseases caused by immunoglobulins directed against keratinocyte cell surface components. In this case report, we identify a non-classical paraneoplastic pemphigus (PNP) foliaceous related to an undifferentiated uterine sarcoma.The patient is a 54-year-old female with a past medical history of arthritis who presented with worsening fatigue in November 2017 and an itchy, blistering, erythematous annular plaque that first appeared on her...
Source: Gynecologic Oncology Reports - Category: OBGYN Source Type: research
The barrier between mind and body appears to be crumbling. Clinical practice and public perception need to catch upUnlikely as it may seem, #inflammation has become a hashtag. It seems to be everywhere suddenly, up to all sorts of tricks. Rather than simply being on our side, fighting infections and healing wounds, it turns out to have a dark side as well: the role it plays in causing us harm.It ’s now clear that inflammation is part of the problem in many, if not all, diseases of the body. And targeting immune or inflammatory causes of disease has led to a series of breakthroughs, from new treatments for rheumatoid ...
Source: Guardian Unlimited Science - Category: Science Authors: Tags: Mental health Psychiatry Multiple sclerosis Depression Dementia Society Medical research Science UK news Alzheimer's Parkinson's disease Schizophrenia Source Type: news
In this study, we tested the role of damp and heat environments in exacerbating RA inflammation and the anti-inflammatory effect of BHGZ, based on succinate/SUCNR1/IL-1β pathway in the adjuvant arthritis (AA) model with damp and heat environment (AA + DHE). Results showed that paw swelling and synovial pathology were significantly increased in AA rats, and these results were aggravated by stimulation in damp and heat environment. BHGZ improved AA + DHE rats' paw swelling, synovial hyperplasia, and inflammatory cell infiltration and reduced IL-1β. In addition, AA rats significantly incr...
Source: Evidence-based Complementary and Alternative Medicine - Category: Complementary Medicine Tags: Evid Based Complement Alternat Med Source Type: research
Conclusion: PsA is characterized by an increase in cardiovascular morbidity in relation with insulin resistance. Current treatments seem to improve this risk with a decrease in cardiovascular mortality in comparison with patients with plaque psoriasis but this requires confirmation in larger prospective studies.
Source: Joint Bone Spine - Category: Orthopaedics Source Type: research
CONCLUSION: Renal pelvic perforation secondary toBevacizumab is infrequent, but it must be taken into accountin patients treated with this drug. PMID: 31950926 [PubMed - in process]
Source: Archivos Espanoles de Urologia - Category: Urology & Nephrology Tags: Arch Esp Urol Source Type: research
CONCLUSION: Tamsulosin and solifenacin combination is a significantly good treatment option for reducing LUTS associated with DJ stents. Mirabegron single therapy showed good results in treating LUTS and better results in treating OAB symptoms related with DJ stents than other therapies. PMID: 31950924 [PubMed - in process]
Source: Archivos Espanoles de Urologia - Category: Urology & Nephrology Tags: Arch Esp Urol Source Type: research
CONCLUSIONS: Although preoperative use of silodosin facilitated only an insignificant positive effect on UAS placement failure, it eased the F-URS procedure by reducing the ETBT, ETUOT, and AAST in seconds. More studies are needed to make an exact conclusion. PMID: 31950923 [PubMed - in process]
Source: Archivos Espanoles de Urologia - Category: Urology & Nephrology Tags: Arch Esp Urol Source Type: research
Authors: Çam İ, Şengül E, Kale A, Ulukaradag E, Öztürk O, Yalnız A, Çakır Ö PMID: 31941398 [PubMed - as supplied by publisher]
Source: Journal of Obstetrics and Gynaecology - Category: OBGYN Tags: J Obstet Gynaecol Source Type: research
More News: Arthritis | Gout | Kidney Stones | Rheumatology | Ureter and Renal Pelvis Cancer | Urology & Nephrology