- Case of primary Sjogren's syndrome preceded by dystonia. [Journal Article]
- BCBMJ Case Rep 2018 Jun 04; 2018
- There are only six cases in literature that describe development of dystonia with Sjogren's syndrome (SS). We describe a case of a 43-year-old woman who presented with symptoms including movement dis...
There are only six cases in literature that describe development of dystonia with Sjogren's syndrome (SS). We describe a case of a 43-year-old woman who presented with symptoms including movement disorder, sensory neurogenic bladder, sensory loss and neuropathic pain, migraine like headaches, musculoskeletal pain, Raynaud's phenomenon and dysautonomia. Symptoms started in 2000, with weakness that progressed to dystonia in 2003. Diagnostic work-up was inconclusive with negative inflammatory serologies, cerebrospinal fluid and MRI for many years. After patient developed sicca syndrome with dry eyes and mouth in 2009, her rheumatoid factor titre was elevated (550 IU/mL), erythrocyte sedimentation rate, anti-Sjogrens syndrome-related antigen A (anti-Ro/SSA) and anti-SSB/La: anti-Sjogrens syndrome-related antigen B (anti-La/SSB) became positive. Lip biopsy confirmed diagnosis of SS. She was diagnosed with primary SS with neurological involvement. Her symptoms responded well to intravenous methylprednisolone. Symptoms stabilised with trials of immune-suppressive therapy. This is a case that demonstrates the delay of diagnosing SS with preceding unique neurological association.
- Prevalence and spectrum of symptomatic pulmonary involvement in primary Sjögren's syndrome. [Journal Article]
- CEClin Exp Rheumatol 2018 May 29
- CONCLUSIONS: Approximately one fifth of a large cohort of pSS patients presented chronic respiratory symptoms. Small airway disease was the most commonly recognized pulmonary disorder among symptomatic pSS patients, followed by xerotrachea and interstitial lung disease.
- The impact of anti-U1-RNP positivity: systemic lupus erythematosus versus mixed connective tissue disease. [Review]
- RIRheumatol Int 2018 May 23
- Anti-U1-RNP positivity remains mandatory for the mixed connective tissue disease (MCTD) diagnosis, reason for which anti-U1-RNP occurrence in patients with lupus clinical features might determine dia...
Anti-U1-RNP positivity remains mandatory for the mixed connective tissue disease (MCTD) diagnosis, reason for which anti-U1-RNP occurrence in patients with lupus clinical features might determine diagnostic issues. Thus, the prevalence of 25-30% for anti-RNP was reported in John Hopkins and LUMINA lupus cohorts and also 13% prevalence for the anti-U1-RNP in Euro-Lupus cohort. Presence of anti-U1-RNP antibodies in patients fulfilling SLE criteria (but not the MCTD ones) was associated with manifestations such as Raynaud phenomenon, musculoskeletal and lung impairment or nail fold capillaroscopy changes, some clinical features frequently encountered in MCTD patients and only rarely described in lupus population. The use of more specific markers such as 70 kDa anti-U1-RNP or anti-Sm-D was proposed for discriminating between SLE and MCTD. In addition, the IgM serotype of anti-U1-RNP seems more frequently expressed in SLE, while the IgG serotype alone in MCTD. Better acknowledgement of possible clinical involvements in lupus subsets, such as the peculiarities related to the anti-U1-RNP positivity, could provide access to early diagnosis of rather rare but possible severe lupus organ impairments (e.g. pulmonary arterial hypertension).
- Treatment algorithms for systemic sclerosis according to experts. [Journal Article]
- ARArthritis Rheumatol 2018 May 21
- CONCLUSIONS: Total agreement for SSc algorithms was considerable. These SSc algorithms may guide treatment.
- Dermoscopic patterns of filiform papillae of the tongue in patients with and without connective tissue autoimmune diseases. [Journal Article]
- IJInt J Dermatol 2018 May 18
- CONCLUSIONS: We have noted alterations in filiform papillae in CTADs, which emphasizes the importance of a detailed intraoral exploration and the macroscopic and dermoscopic evaluation of the dorsum of the tongue, specifically the filiform papillae.
- StatPearls [BOOK]
- BOOKStatPearls Publishing: Treasure Island (FL)
- In response to cold temperatures, the body adapts by restricting blood flow to the skin. This is done as a thermoregulating mechanism to prevent further loss of body heat and to sustain the core body...
In response to cold temperatures, the body adapts by restricting blood flow to the skin. This is done as a thermoregulating mechanism to prevent further loss of body heat and to sustain the core body temperature. In Raynaud phenomenon, blood-flow restriction occurs during cold temperatures and emotional stress. Specifically, in Raynaud phenomenon, there is vasoconstriction of the digital arteries and cutaneous arterioles. This phenomenon was first described by Maurice Raynaud in 1862 and later studied by Sir Thomas Lewis in 1930. Overall, Raynaud phenomenon is a transient and peripheral vasoconstrictive response to cold temperatures or emotional stress. Raynaud phenomenon can be categorized as either primary or secondary.
- Approach to Patients with Suspected Rheumatic Disease. [Review]
- PCPrim Care 2018; 45(2):169-180
- Patients with rheumatic disease may present with a myriad of symptoms, from joint pain and rashes to more subtle findings, such as dry eyes and dry mouth. In this article, the authors review in detai...
Patients with rheumatic disease may present with a myriad of symptoms, from joint pain and rashes to more subtle findings, such as dry eyes and dry mouth. In this article, the authors review in detail the common presenting symptoms of rheumatic disease along with key features in the history and physical examination to help distinguish these from other disease processes.
- Persistent acrocyanosis: A rare manifestation revealing anti-pl12 syndrome. [Journal Article]
- ARArthritis Rheumatol 2018 May 06
- A 69-year-old woman with asthenia, anorexia and weight loss lasting for several weeks was referred for a subacute onset of painful permanent acrocyanosis of the four extremities without Raynaud's phe...
A 69-year-old woman with asthenia, anorexia and weight loss lasting for several weeks was referred for a subacute onset of painful permanent acrocyanosis of the four extremities without Raynaud's phenomenon. She also had concomitantly developed grade I/IV (NYHA) dyspnea. A physical examination revealed livedoid acrocyanosis of distal phalanges of the hands (Fig. 1A), which was associated with flame-shaped hemorrhages (Fig. 1B, arrow-head), dilated capillaries at the proximal nailfolds (Fig. 1B, arrow), Gottron's sign over the MCP and PIP joints and a discrete heliotrope rash with a palpable V-shaped rash of the upper chest and forehead. This article is protected by copyright. All rights reserved.
- Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder. [Journal Article]
- MPMol Psychiatry 2018 May 04
- RLIM, also known as RNF12, is an X-linked E3 ubiquitin ligase acting as a negative regulator of LIM-domain containing transcription factors and participates in X-chromosome inactivation (XCI) in mice...
RLIM, also known as RNF12, is an X-linked E3 ubiquitin ligase acting as a negative regulator of LIM-domain containing transcription factors and participates in X-chromosome inactivation (XCI) in mice. We report the genetic and clinical findings of 84 individuals from nine unrelated families, eight of whom who have pathogenic variants in RLIM (RING finger LIM domain-interacting protein). A total of 40 affected males have X-linked intellectual disability (XLID) and variable behavioral anomalies with or without congenital malformations. In contrast, 44 heterozygous female carriers have normal cognition and behavior, but eight showed mild physical features. All RLIM variants identified are missense changes co-segregating with the phenotype and predicted to affect protein function. Eight of the nine altered amino acids are conserved and lie either within a domain essential for binding interacting proteins or in the C-terminal RING finger catalytic domain. In vitro experiments revealed that these amino acid changes in the RLIM RING finger impaired RLIM ubiquitin ligase activity. In vivo experiments in rlim mutant zebrafish showed that wild type RLIM rescued the zebrafish rlim phenotype, whereas the patient-specific missense RLIM variants failed to rescue the phenotype and thus represent likely severe loss-of-function mutations. In summary, we identified a spectrum of RLIM missense variants causing syndromic XLID and affecting the ubiquitin ligase activity of RLIM, suggesting that enzymatic activity of RLIM is required for normal development, cognition and behavior.
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- Muscular and extramuscular clinical features of patients with anti-PM/Scl autoantibodies. [Journal Article]
- NeurNeurology 2018 Jun 05; 90(23):e2068-e2076
- CONCLUSIONS: Unlike patients with DM, AS, or IMNM, anti-PM/Scl-positive patients have weaker arm abductors than hip flexors. Anti-PM/Scl-positive patients also have the most extensive extramuscular features.