scholarly journals P.055 Clinical and Electrophysiological characteristics of anti-nodal/paranodal antibodies in chronic inflammatory demyelinating polyradiculoneuropathy patients

2021 ◽  
Vol 48 (s3) ◽  
pp. S34-S34
Author(s):  
A Alsolaihim ◽  
S Baker
Keyword(s):  
Western Blot ◽  
Age Of Onset ◽  
Treatment Decision ◽  
Node Of Ranvier ◽  
Chronic Inflammatory Demyelinating Polyradiculoneuropathy ◽  
Response To Treatment ◽  
Double Positive ◽  
Acute Presentation ◽  
Cast Doubt ◽  
Guide Treatment Decision

Background: CIDP is an autoimmune polyneuropathy. Antibodies against the Node of Ranvier have been described, NF155,NF140/186 and contactin-1. Methods: A retrospective review of patients with CIDP who tested positive for anti-nodal/paranodal antibodies via Western blot were evaluated. We have included 20 sero-negative CIDP patients. All patients met definite or probable EFNS criteria. clinical, electrophysiological data and response to treatment were obtained. Results: Forty-five patients tested positive for the antibodies. Sixteen were positive for NF155, 11 for NF140, 5 for CNTN1,11 were double positive for NF155 and NF140, and 3 were triple positive for NF155, NF140 and CNTN1. Age of onset was similar in both seronegative (53.9 ± 3.1 yrs.) versus seropositive (52.3 ± 2.4 yrs.). Chronic presentation manifested in 85% of seronegative, 80% of seropositive patients.Intrestingly,all triple-positive patients presented with a more acute presentation (i.e,<8 wks.) 7/20 seronegative (35%),1/16 NF155, 6/11 NF140,1/5 contactin, 2/11 of double-positive, 3/3 of triple-positive (28%,13/46) responded to IVIg. Conclusions: No major clinical or electrophysiological differences between groups. triple-positive patients showed 100% response to IVIg.These results cast doubt on the specificity of the Western blot as a clinico-electrophysiologic discriminator. Future testing with cell-based assays will likely provide a robust measure that will guide treatment decision.

Functional dystonia in the foot and ankle

2021 ◽  
Vol 103-B (6) ◽  
pp. 1127-1132
Author(s):  
Julia Gray ◽  
Matthew Welck ◽  
Nicholas P. Cullen ◽  
Dishan Singh
Keyword(s):  
Age Of Onset ◽  
Pain Syndrome ◽  
Rapid Onset ◽  
Response To Treatment ◽  
Foot And Ankle ◽  
Mean Delay ◽  
Chronic Regional Pain Syndrome ◽  
Injury Event ◽  
The Mean ◽  
A Minor

Aims To assess the characteristic clinical features, management, and outcome of patients who present to orthopaedic surgeons with functional dystonia affecting the foot and ankle. Methods We carried out a retrospective search of our records from 2000 to 2019 of patients seen in our adult tertiary referral foot and ankle unit with a diagnosis of functional dystonia. Results A total of 29 patients were seen. A majority were female (n = 25) and the mean age of onset of symptoms was 35.3 years (13 to 71). The mean delay between onset and diagnosis was 7.1 years (0.5 to 25.0). Onset was acute in 25 patients and insidious in four. Of the 29 patients, 26 had a fixed dystonia and three had a spasmodic dystonia. Pain was a major symptom in all patients, with a coexisting diagnosis of chronic regional pain syndrome (CRPS) made in nine patients. Of 20 patients treated with Botox, only one had a good response. None of the 12 patients who underwent a surgical intervention at our unit or elsewhere reported a subjective overall improvement. After a mean follow-up of 3.2 years (1 to 12), four patients had improved, 17 had remained the same, and eight reported a deterioration in their condition. Conclusion Patients with functional dystonia typically presented with a rapid onset of fixed deformity after a minor injury/event and pain out of proportion to the deformity. Referral to a neurologist to rule out neurological pathology is advocated, and further management should be carried out in a movement disorder clinic. Response to treatment (including Botulinum toxin (Botox) injections) is generally poor. Surgery in this group of patients is not recommended and may worsen the condition. The overall prognosis remains poor. Cite this article: Bone Joint J 2021;103-B(6):1127–1132.

scholarly journals Frequency of diabetes and other comorbidities in chronic inflammatory demyelinating polyradiculoneuropathy and their impact on clinical presentation and response to therapy

2020 ◽  
Vol 91 (10) ◽  
pp. 1092-1099 ◽  
Author(s):  
Pietro Emiliano Doneddu ◽  
Dario Cocito ◽  
Fiore Manganelli ◽  
Raffaella Fazio ◽  
Chiara Briani ◽  
...  
Keyword(s):  
Treatment Response ◽  
Age At Onset ◽  
European Population ◽  
Chronic Inflammatory Demyelinating Polyradiculoneuropathy ◽  
Treatment Choice ◽  
Response To Therapy ◽  
Response To Treatment ◽  
European Federation ◽  
Immune Disorders ◽  
Patients With Diabetes

ObjectivesTo determine the prevalence of different comorbidities in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), and their impact on outcome, treatment choice and response.MethodsUsing a structured questionnaire, we collected information on comorbidities from 393 patients with CIDP fulfilling the European Federation of Neurological Societies and Peripheral Nerve Society criteria included in the Italian CIDP database.ResultsOne or more comorbidities were reported by 294 patients (75%) and potentially influenced treatment choice in 192 (49%) leading to a less frequent use of corticosteroids. Response to treatment did not differ, however, from that in patients without comorbidities. Diabetes (14%), monoclonal gammopathy of undetermined significance (MGUS) (12%) and other immune disorders (16%) were significantly more frequent in patients with CIDP than expected in the general European population. Patients with diabetes had higher disability scores, worse quality of life and a less frequent treatment response compared with patients without diabetes. Patients with IgG-IgA or IgM MGUS had an older age at CIDP onset while patients with other immune disorders had a younger age at onset and were more frequently females. IgM MGUS was more frequent in patients with motor CIDP than in patients with typical CIDP.ConclusionsComorbidities are frequent in patients with CIDP and in almost 50% of them have an impact on treatment choice. Diabetes, MGUS and other immune diseases are more frequent in patients with CIDP than in the general population. Only diabetes seems, however, to have an impact on disease severity and treatment response possibly reflecting in some patients a coexisting diabetic neuropathy.

CLO19-026: Determining the Treatment Decision of Tumors With Mixed Response

2019 ◽  
Vol 17 (3.5) ◽  
pp. CLO19-026
Author(s):  
Candice Baldeo ◽  
Tasneem Kaleem ◽  
Ricardo Paz-Fumagalli ◽  
John Copland ◽  
Michael Menefee
Keyword(s):  
Tumor Response ◽  
Treatment Decision ◽  
Clinical Decision ◽  
Hematologic Malignancies ◽  
Current Treatment ◽  
Response To Treatment ◽  
Mixed Response ◽  
Line Of Therapy ◽  
Additional Agent

Introduction: Individuals receiving systemic anticancer therapies for advanced solid tumors routinely undergo imaging studies to assess the efficacy of the treatment. Mixed response (MR) to cancer therapy is a common but poorly described phenomenon. There is a paucity of data regarding both the incidence and possible mechanisms of this clinical quandary. Potential etiologies include tumor heterogeneity, differences in tumor microenvironment, and discrepancies in drug delivery to different tumor deposits. It is also possible that MR simply reflects differences in the rate of resistance emerging. MR represents a therapeutic dilemma for the clinician. Methods: Mixed tumor response was defined as: One tumor decreasing in size; one tumor increasing in size (classified as RECIST response/progressions), One tumor stable; another tumor progressing, One tumor stable; another tumor responding, New tumor; another tumor responding or remaining stable. Between 2015 and 2017, 120 restaging CT scans were reviewed of patients who had received at least 1 line of therapy for advanced cancer diagnosis which showed MR; hematologic malignancies were excluded. Charts were reviewed to determine the clinical decision that was made at the time of the MR. Results: A total of 120 scans with MR were reviewed from various solid tumor diagnoses. 38 scans were excluded due to loss of follow-up or death. Of the remaining 82 scans, therapy was switched in 30, the same therapy was continued in 50, and an additional agent was added to the current treatment in 2 cases (Table). Of the patients in which treatment was switched, 20% (6/30) showed response to treatment on the following scan. Of the cases that were kept on current treatment, none showed response on the following restaging scan which was done 6–8 weeks later. There were 4 (10%) deaths prior to the next scan in the group that had treatment switched and similarly 5 deaths (10%) prior to the next scan in the group in which treatment remained the same. Conclusion: MR is associated with a poor prognosis, irrespective of treatment decisions. These data are retrospective and our sample size is small, so definitive conclusions cannot be drawn. However, changing therapy when a MR is observed may be of benefit to some patients. A prospective evaluation to more accurately describe and understand the MR phenomenon is warranted.

Olfactory reference syndrome: a systematic review of the world literature

2010 ◽  
Vol 41 (3) ◽  
pp. 453-461 ◽  
Author(s):  
M. Begum ◽  
P. J. McKenna
Keyword(s):  
Systematic Review ◽  
Diagnostic Criteria ◽  
World Literature ◽  
Age Of Onset ◽  
Case Reports ◽  
Response To Treatment ◽  
Psychiatric Syndrome ◽  
The World ◽  
Current Classification

BackgroundThe nosological status of olfactory reference syndrome (ORS) is a matter of debate and there is uncertainty as to what treatments are effective.MethodThe world literature was searched for reports of cases of ORS. Clinical, nosological and therapeutic information from cases meeting proposed diagnostic criteria for the disorder was summarized and tabulated.ResultsA total of 84 case reports (52 male/32 female) were found. Age of onset was <20 years in almost 60% of cases. Smell-related precipitating events were recorded in 42%. Most patients could not smell the smell or only did so intermittently. Authors of the reports expressed reservations about the delusional nature of the belief in slightly under half of the cases. Over two-thirds were improved or recovered at follow-up, with the disorder responding to antidepressants and psychotherapy more frequently than to neuroleptics.ConclusionsORS is a primary psychiatric syndrome that does not fit well into its current classification as a subtype of delusional disorder, both in terms of its nosology and its response to treatment.

scholarly journals Clinical Features and Treatment in the Spectrum of Paroxysmal Dyskinesias: An Observational Study in South-West Castilla y Leon, Spain

2019 ◽  
Vol 2019 ◽  
pp. 1-7
Author(s):  
Raquel Manso-Calderón
Keyword(s):  
Clinical Features ◽  
Selective Serotonin Reuptake Inhibitors ◽  
Age Of Onset ◽  
Age At Onset ◽  
Vascular Lesions ◽  
Response To Treatment ◽  
Involuntary Movements ◽  
Castilla Y Leon ◽  
South West ◽  
Exercise Induced

Background. Paroxysmal dyskinesias (PxD) are a group of heterogeneous disorders characterized by intermittent episodes of involuntary movements. PxD include paroxysmal kinesigenic (PKD), nonkinesigenic (PNK), and exercise-induced (PED) varieties. Objectives. To define the phenotype of primary and secondary PxD forms. Methods. Twenty-two patients with PxD (9 men/13 women) were evaluated in two hospitals in south-west Castilla y Leon, Spain. Clinical features of the episodes, causes, family history, and response to treatment were collected. Results. Thirteen participants with primary PxD (6 men/7 women) and 9 with secondary PxD (3 men/6 women) were recruited. Nine patients belong to three nonrelated families (2 had PKD and 1 had PED). Mean age at onset in primary PKD cases was 10 years (range 5-23 years), earlier than in PNKD (24 years) and PED (20 years). Most primary PKD cases experienced daily episodes of duration <1 minute, which are more frequent and shorter attacks than in PNKD (1-2 per month, 5 minutes) and PED (1 per day, 15 minutes). The location of the involuntary movements varied widely; isolated dystonia was more common than mixed chorea and dystonia. All PKD patients who received antiepileptic treatment significantly improved. Levodopa and ketogenic diet proved to be effective in two patients with PED. Secondary forms presented a later mean age of onset (51 years). Six cases had PNKD, 1 had PKD, 1 both PNKD and PKD, and 1 had PED. Causes comprised vascular lesions, encephalitis, multiple sclerosis, peripheral trauma, endocrinopathies, and drugs such as selective serotonin reuptake inhibitors (SSRIs). Conclusion. The knowledge of the clinical features and spectrum of causes related to PxD is crucial to avoid delays in diagnosis and treatment, or even a nonorganic disorder diagnosis.

Gender Differences in Schizophrenia

1982 ◽  
Vol 27 (2) ◽  
pp. 107-112 ◽  
Author(s):  
Mary V. Seeman
Keyword(s):  
Gender Differences ◽  
Protective Factors ◽  
Left Hemisphere ◽  
Early Onset ◽  
Age Of Onset ◽  
Stress Factors ◽  
Response To Treatment ◽  
Cumulative Stress

Men with schizophrenia have an earlier age of onset, a somewhat inferior response to treatment and a generally poorer prognosis than women. These findings can perhaps be explained by the existence of two distinct forms of the illness, one with early onset, primarily affecting men, and one with later onset, primarily affecting women. There is not much evidence for this first view. Alternatively, non-specific cumulative stress factors may impinge selectively on the male, reaching the threshold of demonstrable illness at an earlier age. A third possibility is the existence of specific biological protective factors in the female, such as relatively bilateral representation of left hemisphere functions or relative dopaminergic inhibition by estrogens.

scholarly journals Variability in phenotype and response to treatment in chronic nonbacterial osteomyelitis; the Irish experience of a national cohort

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Daire O’Leary ◽  
Anthony G. Wilson ◽  
Emma-Jane MacDermott ◽  
Clodagh Lowry ◽  
Orla G. Killeen
Keyword(s):  
Children And Adolescents ◽  
Treatment Guidelines ◽  
Age Of Onset ◽  
Paediatric Rheumatology ◽  
Response To Treatment ◽  
Second Line ◽  
Treatment Protocols ◽  
Childhood Arthritis ◽  
National Cohort ◽  
Chronic Nonbacterial Osteomyelitis

Abstract Background Chronic nonbacterial osteomyelitis (CNO) is an autoinflammatory disease affecting bone with considerable phenotypic heterogeneity and variable association with other autoinflammatory conditions. Disease pathogenesis is incompletely understood, and treatment protocols vary between physicians with no clinical treatment guidelines available prior to 2017. Although CNO was previously considered benign, it is now clear that long-term sequelae do occur. The aim of this study is to provide a detailed phenotypic description of children and adolescents with CNO who attended tertiary paediatric rheumatology services in Ireland between September 2017 and September 2019, their disease course, treatment and outcomes. Methods This study involved retrospective review of clinical notes, laboratory, radiology and histology results of Irish children and adolescents with CNO who are currently attending tertiary paediatric rheumatology services. The Bristol diagnostic criteria were applied retrospectively; only patients who met these criteria were included. Criteria for remission and partial response were based on the Childhood Arthritis and Rheumatology Research Alliance (CARRA) criteria for treatment failure. Results Forty-four children and adolescents were recruited. Demographics in terms of age of onset, gender and number of sites were similar to those previously reported. Overall, 18/44 (40.9%) had extraosseous manifestations associated with CNO; 12/44 (27.2%) had cutaneous involvement. All patients received a regular nonsteroidal anti-inflammatory drug (NSAID) after diagnosis with 27/44 (61.4%) requiring at least 1 second-line medication. Second-line agents used in this cohort were bisphosphonates, methotrexate and TNF-blockers. No patients received systemic corticosteroids. Conclusion This national cohort showed a high prevalence of extraosseous involvement and a low response rate to NSAID treatment. This may reflect a more inflammatory phenotype and highlights the need to define different subtypes of CNO.

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