A polymyalgia rheumatica-mimicking case with young adult onset

The diagnosis of polymyalgia rheumatica (PMR) is made primarily on clinical features and laboratory evidence of inflammation. Among the criteria for diagnosing PMR, disease onset at an age of 50 years or over is one of the major premises. The present case with 35-year-old onset showed clinical features of symmetric proximal myalgias (shoulder and pelvic girdle) with pronounced stiffness for more than 3 weeks, morning stiffness lasting more than 45 minutes combined with laboratory abnormalities (elevated CRP and ESR), and a dramatic improvement with steroid treatment at a low dosage (20mg/day), which is quite compatible with PMR except for the age of onset of the disease. This case shows that PMR-mimicking conditions can occur in patients even under 50 years of age.

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Progressive supranuclear palsy in a sample of brazilian population: clinical features of 16 patients

Arquivos de Neuro-Psiquiatria ◽

10.1590/s0004-282x2002000600006 ◽

2002 ◽

Vol 60 (4) ◽

pp. 917-922 ◽

Cited By ~ 14

Author(s):

Paulo Eduardo Mestrinelli Carrilho ◽

Egberto Reis Barbosa

Keyword(s):

Progressive Supranuclear Palsy ◽

Clinical Features ◽

Age Of Onset ◽

Disease Onset ◽

Final Diagnosis ◽

Postural Instability ◽

Chronic Dacryocystitis ◽

Neurologic Disorders ◽

The Mean ◽

Vertical Gaze

Progressive supranuclear palsy (PSP) is an uncommon disorder characterized by marked postural instability, vertical gaze abnormalities and axial rigidity. The purpose of this study is to report the clinical features of 16 consecutive subjects seen over a 10-year period at a Movement Disorders Clinic. These subjects fulfilled criteria for probable PSP namely those of the National Institute of Neurologic Disorders and Stroke (NINDS) and the Society for PSP (SPSP). This patient-group represented 2.1% of all degenerative parkinsonians observed and the mean age of onset of the disease was 64.7 years (sd = ± 7.2). Postural instability with falls was the most frequent initial feature presented in PSP patients (62.5%). The hallmark of the disease, the supranuclear vertical gaze palsy, appeared after 2.3 years of disease onset, and only 12.5% had such manifestation at the first evaluation. Transient tremor was observed with a relatively high frequency in this group (44%), but only 19% had rest tremor. Chronic dacryocystitis, probably related to a paucity of blinking, was observed in two patients as an inaugural manifestation. In the first evaluation, only 19% of the 16 patients were diagnosed as probable PSP. The mean interval prior to the final diagnosis was 2.4 years.

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Anti-Fibrillarin Antibody in African American Patients with Systemic Sclerosis: Immunogenetics, Clinical Features, and Survival Analysis

The Journal of Rheumatology ◽

10.3899/jrheum.110071 ◽

2011 ◽

Vol 38 (8) ◽

pp. 1622-1630 ◽

Cited By ~ 25

Author(s):

ROOZBEH SHARIF ◽

MARVIN J. FRITZLER ◽

MAUREEN D. MAYES ◽

EMILIO B. GONZALEZ ◽

TERRY A. McNEARNEY ◽

...

Keyword(s):

African American ◽

Systemic Sclerosis ◽

Clinical Features ◽

Age Of Onset ◽

Strong Association ◽

Disease Onset ◽

Clinical Manifestations ◽

Cox Proportional Hazards ◽

Digital Ulcers ◽

Younger Age

Objective.Anti-U3-RNP, or anti-fibrillarin antibodies (AFA), are detected more frequently among African American (AA) patients with systemic sclerosis (SSc) compared to other ethnic groups and are associated with distinct clinical features. We examined the immunogenetic, clinical, and survival correlates of AFA in a large group of AA patients with SSc.Methods.Overall, 278 AA patients with SSc and 328 unaffected AA controls were enrolled from 3 North American cohorts. Clinical features, autoantibody profile, and HLA class II genotyping were determined. To compare clinical manifestations, relevant clinical features were adjusted for disease duration. Cox proportional hazards regression was used to determine the effect of AFA on survival.Results.Fifty (18.5%) AA patients had AFA. After Bonferroni correction, HLA-DRB1*08:04 was associated with AFA, compared to unaffected AA controls (OR 11.5, p < 0.0001) and AFA-negative SSc patients (OR 5.2, p = 0.0002). AFA-positive AA patients had younger age of disease onset, higher frequency of digital ulcers, diarrhea, pericarditis, higher Medsger perivascular and lower Medsger lung severity indices (p = 0.004, p = 0.014, p = 0.019, p = 0.092, p = 0.006, and p = 0.016, respectively). After adjustment for age at enrollment, AFA-positive patients did not have different survival compared to patients without AFA (p = 0.493).Conclusion.Our findings demonstrate strong association between AFA and HLA-DRB1*08:04 allele in AA patients with SSc. AA SSc patients with AFA had younger age of onset, higher frequency of digital ulcers, pericarditis and severe lower gastrointestinal involvement, but less severe lung involvement compared to AA patients without AFA. Presence of AFA did not change survival.

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Familial isolated hyperparathyroidism due to multiple adenomas associated with ossifying jaw fibroma and multiple uterine adenomyomatous polyps

Acta Endocrinologica ◽

10.1530/eje.0.1380557 ◽

1998 ◽

pp. 557-561 ◽

Cited By ~ 18

Author(s):

M Fujikawa ◽

K Okamura ◽

K Sato ◽

T Mizokami ◽

K Tamaki ◽

...

Keyword(s):

Young Adult ◽

Primary Hyperparathyroidism ◽

Clinical Features ◽

Multiple Endocrine Neoplasia ◽

Adult Onset ◽

Female Patients ◽

Endocrine Neoplasia ◽

Parathyroid Adenomas ◽

Uterine Polyps ◽

Familial Hyperparathyroidism

We describe three siblings with hyperparathyroidism due to multiple parathyroid adenomas without evidence of other endocrinological abnormalities. A 22-year-old woman had two parathyroid adenomas complicated by multiple ossifying jaw fibromas. Her sister, aged 29, also suffered from primary hyperparathyroidism associated with two parathyroid adenomas one of which was also suspected to be a carcinoma. These two female patients had unusual multiple small uterine polyps, which were diagnosed as adenomyomatous polyps. Their brother, aged 17, had two parathyroid adenomas complicated by urolithiasis. These three patients are characterized by young adult-onset familial isolated hyperparathyroidism due to multiple adenomas with various complications including ossifying jaw fibroma and uterine adenomyomatous polyps. These clinical features are different from those of familial hyperparathyroidism associated with multiple endocrine neoplasia.

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Clinical profiles and outcomes of deep brain stimulation in G2019S LRRK2 Parkinson disease

Journal of Neurosurgery ◽

10.3171/2021.7.jns21190 ◽

2021 ◽

pp. 1-8

Author(s):

Katherine Leaver ◽

Aaron Viser ◽

Brian H. Kopell ◽

Roberto A. Ortega ◽

Joan Miravite ◽

...

Keyword(s):

Deep Brain Stimulation ◽

Parkinson Disease ◽

Clinical Features ◽

Brain Stimulation ◽

Rating Scale ◽

Age Of Onset ◽

Disease Onset ◽

Hand Tremor ◽

Stn Dbs ◽

Deep Brain

OBJECTIVE The objective of this study was to evaluate clinical features and response to deep brain stimulation (DBS) in G2019S LRRK2-Parkinson disease (LRRK2-PD) and idiopathic PD (IPD). METHODS The authors conducted a clinic-based cohort study of PD patients recruited from the Mount Sinai Beth Israel Genetics database of PD studies. The cohort included 87 participants with LRRK2-PD (13 who underwent DBS) and 14 DBS participants with IPD enrolled between 2009 and 2017. The baseline clinical features, including motor ratings and levodopa-equivalent daily dose (LEDD), were compared among LRRK2-PD patients with and without DBS, between LRRK2-PD with DBS and IPD with DBS, and between LRRK2-PD with subthalamic nucleus (STN) and internal segment of the globus pallidus (GPi) DBS. Longitudinal motor scores (Unified Parkinson’s Disease Rating Scale–part III) and medication usage were also assessed pre- and postoperatively. RESULTS Compared to LRRK2-PD without DBS (n = 74), the LRRK2-PD with DBS cohort (n = 13) had a significantly younger age of onset, longer disease duration, were more likely to have dyskinesia, and were less likely to experience hand tremor at disease onset. LRRK2-PD participants were also more likely to be referred for surgery because of severe dyskinesia (11/13 [85%] vs 6/14 [43%], p = 0.04) and were less likely to be referred for medically refractory tremor (0/13 [0%] vs 6/14 [43%], p = 0.02) than were IPD patients. Among LRRK2-PD patients, both STN-DBS and GPi-DBS targets were effective, although the sample size was small for both groups. There were no revisions or adverse effects reported in the GPi-DBS group, while 2 of the LRRK2-PD participants who underwent STN-DBS required revisions and a third reported depression as a stimulation-related side effect. Medication reduction favored the STN group. CONCLUSIONS The LRRK2-PD cohort referred for DBS had a slightly different profile, including earlier age of onset and dyskinesia. Both the STN and GPi DBS targets were effective in symptom suppression. Patients with G2019S LRRK2 PD were well-suited for DBS therapy and had favorable motor outcomes regardless of the DBS target. LRRK2-DBS patients had longer disease durations and tended to have more dyskinesia. Dyskinesia commonly served as the trigger for DBS surgical candidacy. Medication-refractory tremor was not a common indication for surgery in the LRRK2 cohort.

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The aquaporin4-IgG status and how it affects the clinical features and treatment response in NMOSD patients in Egypt

BMC Neurology ◽

10.1186/s12883-021-02083-1 ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Nirmeen A. Kishk ◽

Walaa Abdelfattah ◽

Nevin M. Shalaby ◽

Hatem S. Shehata ◽

Amr Hassan ◽

...

Keyword(s):

Treatment Failure ◽

Clinical Features ◽

Age Of Onset ◽

Independent Predictor ◽

Disease Onset ◽

Brain Lesions ◽

Enzyme Linked Immunosorbent Assay ◽

The Mean ◽

Positive Results

Abstract Background In Egypt, the characterization of Neuromyelitis Optica Spectrum Disorder (NMOSD) is lacking. Objectives To determine the demographics, clinical features, aquaporin4 antibodies (AQP4-IgG) status, and neuroimaging of Egyptian NMOSD patients. Methods Retrospective analysis of 70 NMOSD patients’ records from the MS clinic, Kasr Alainy hospital, between January 2013 and June 2018. Results Patients’ mean age was 34.9 ± 9.2 years, and the mean at disease onset was 28.9 ± 10.5 years. Fifty-nine patients had an initial monosymptomatic presentation. AQP4-IgG was measured using either enzyme-linked immunosorbent assay (ELISA) (22 patients) or cell-based assay (CBA) (34 patients). Six and 29 patients had positive results, respectively (p < 0.001). 84% had typical NMOSD brain lesions. Longitudinally extensive myelitis was detected in 49 patients, and 9 had either short segments or normal cords. Treatment failure was higher in seropositive patients. Rituximab significantly reduced the annualized relapse rate (ARR) compared to Azathioprine with a percentage reduction of (76.47 ± 13.28) and (10.21 ± 96.07), respectively (p = 0.04). Age at disease onset was the only independent predictor for disability (p < 0.01). Conclusion Treatment failure was higher in seropositive patients. However, there was no difference in clinical or radiological parameters between seropositive and seronegative patients. Patients, who are polysymptomatic or with older age of onset, are predicted to have higher future disability regardless of the AQP4-IgG status.

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Serum amyloid A1 genotype associates with adult-onset familial Mediterranean fever in patients homozygous for mutation M694V

Rheumatology ◽

10.1093/rheumatology/keaa452 ◽

2020 ◽

Vol 60 (1) ◽

pp. 441-444

Author(s):

Gernot Kriegshäuser ◽

Hasmik Hayrapetyan ◽

Stepan Atoyan ◽

Christian Oberkanins ◽

Tamara Sarkisian

Keyword(s):

Age Of Onset ◽

Mefv Gene ◽

Disease Onset ◽

Clinical Manifestations ◽

Geographic Region ◽

Serum Amyloid ◽

Adult Onset ◽

Mefv Mutation ◽

Mediterranean Fever ◽

Serum Amyloid A1

Abstract Objectives FMF shows considerable variability in severity and type of clinical manifestations by geographic region, which are attributed to Mediterranean fever (MEFV) gene allelic heterogeneity, additional genetic modifiers and environmental factors. Considering the severe impact of MEFV mutation M694V on the FMF phenotype, this work aimed at investigating a possible disease modifying role of the serum amyloid A1 (SAA1) genotype in a cohort of 386 Armenian FMF patients homozygous for MEFV mutation M694V. Methods A cohort of 386 Armenian patients diagnosed with FMF based on the Tel-Hashomer criteria and carrying two MEFV M694V mutant alleles were included in this study. Fifty-two (13.40%) of these patients experienced their first attack at the age of ≥20 years (i.e. adult-onset FMF). MEFV and SAA1 analyses were performed by a commercial reverse-hybridization assay, and resulting genotypes were matched against the patients’ clinicodemographic profiles. Results Genotypic distribution of SAA1 alleles was significantly different between patients with an age of onset <20 and ≥20 years. SAA1 genotypes α/α, α/β and β/β could be identified in 8 (15.38%), 12 (23.08%) and 32 (61.54%) adult-onset patients while this was the case for 47 (14.07%), 172 (51.50%) and 115 (34.43%) patients with a disease onset <20 years, respectively (P < 0.001). Furthermore, adult-onset disease was associated with a less severe FMF phenotype (P < 0.001). Conclusion We have identified a significant relationship between the SAA1β/β genotype and the age of disease onset in M694V homozygous FMF patients.

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Clinical Features at Onset and Genetic Characterization of Pediatric and Adult Patients with TNF-α Receptor—Associated Periodic Syndrome (TRAPS): A Series of 80 Cases from the AIDA Network

Mediators of Inflammation ◽

10.1155/2020/8562485 ◽

2020 ◽

Vol 2020 ◽

pp. 1-12 ◽

Cited By ~ 1

Author(s):

Carla Gaggiano ◽

Antonio Vitale ◽

Laura Obici ◽

Giampaolo Merlini ◽

Alessandra Soriano ◽

...

Keyword(s):

Abdominal Pain ◽

Clinical Features ◽

Age At Onset ◽

Positive Family History ◽

Disease Onset ◽

Cysteine Residue ◽

Classification Criteria ◽

Recurrent Fever ◽

Periodic Syndrome ◽

Adult Onset

This study explores demographic, clinical, and therapeutic features of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a cohort of 80 patients recruited from 19 Italian referral Centers. Patients’ data were collected retrospectively and then analyzed according to age groups (disease onset before or after 16 years) and genotype (high penetrance (HP) and low penetrance (LP) TNFRSF1A gene variants). Pediatric- and adult-onset were reported, respectively, in 44 and 36 patients; HP and LP variants were found, respectively, in 32 and 44 cases. A positive family history for recurrent fever was reported more frequently in the pediatric group than in the adult group (p<0.05). With reference to clinical features during attacks, pericarditis and myalgia were reported more frequently in the context of adult-onset disease than in the pediatric age (with p<0.01 and p<0.05, respectively), while abdominal pain was present in 84% of children and in 25% of adults (p<0.01). Abdominal pain was significantly associated also to the presence of HP mutations (p<0.01), while oral aphthosis was more frequently found in the LP variant group (p<0.05). Systemic amyloidosis occurred in 25% of subjects carrying HP variants. As concerns laboratory features, HP mutations were significantly associated to higher ESR values (p<0.01) and to the persistence of steadily elevated inflammatory markers during asymptomatic periods (p<0.05). The presence of mutations involving a cysteine residue, abdominal pain, and lymphadenopathy during flares significantly correlated with the risk of developing amyloidosis and renal impairment. Conversely, the administration of colchicine negatively correlated to the development of pathologic proteinuria (p<0.05). Both NSAIDs and colchicine were used as monotherapy more frequently in the LP group compared to the HP group (p<0.01). Biologic agents were prescribed to 49 (61%) patients; R92Q subjects were more frequently on NSAIDs monotherapy than other patients (p<0.01); nevertheless, they required biologic therapy in 53.1% of cases. At disease onset, the latest classification criteria for TRAPS were fulfilled by 64/80 (80%) patients (clinical plus genetic items) and 46/80 (57.5%) patients (clinical items only). No statistically significant differences were found in the sensitivity of the classification criteria according to age at onset and according to genotype (p<0.05). This study describes one of the widest cohorts of TRAPS patients in the literature, suggesting that the clinical expression of this syndrome is more influenced by the penetrance of the mutation rather than by the age at onset itself. Given the high phenotypic heterogeneity of the disease, a definite diagnosis should rely on both accurate working clinical assessment and complementary genotype.

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The effect of childhood trauma on age of onset in patients with schizophrenia

International Journal of Social Psychiatry ◽

10.1177/0020764020943629 ◽

2020 ◽

Vol 66 (8) ◽

pp. 763-769

Author(s):

Cem İngeç ◽

Esin Evren Kılıçaslan

Keyword(s):

Childhood Trauma ◽

Clinical Features ◽

Head Trauma ◽

Age Of Onset ◽

Short Form ◽

Disease Onset ◽

Psychotic Symptoms ◽

Childhood Trauma Questionnaire ◽

Birth Complication ◽

And Migration

Purpose: Childhood trauma (CT) has been shown to affect the etiology and clinical features of schizophrenia. In this study, it was aimed to investigate the effects of CT on the age of onset (AoO) and clinical features of the disease by considering factors such as family history, head trauma, birth trauma, alcohol and substance abuse that may affect AoO of the disease. Methods: The sample comprising 200 patients admitted to the outpatient and inpatient care at the Izmir Katip Çelebi University, Atatürk Education and Research Hospital psychiatry clinic, were included in the study. Socio-demographic information form, Positive and Negative Syndrome Scale (PANSS), Childhood Trauma Questionnaire-Short Form (CTQ-SF) and subscale of Mini-International Neuropsychiatric Interview (MINI) were applied. Results: All types of trauma, except physical abuse, were found related to the disease onset age earlier. It was also detected that the factors of head trauma, birth complication, presence of an individual diagnosed with schizophrenia in the family and migration history were not related to AoO of the disease. On the other hand, it was found that physical, emotional and sexual abuses lead to more positive psychotic symptoms, and all types of CT increase the severity of disease and the risk of suicide. Conclusion: This study draws attention to the etiological importance of CT in schizophrenia as an environmental factor by showing that it affects AoO of the disease along with symptomatology. Future studies should focus on the pathogenesis of CT in schizophrenia and the interaction between CT and biological and genetic predisposition.

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Serum Autoantibodies and Their Clinical Associations in Patients with Childhood- and Adult-Onset Linear Scleroderma. A Single-Center Study

The Journal of Rheumatology ◽

10.3899/jrheum.080098 ◽

2008 ◽

Vol 35 (12) ◽

pp. 2439-2444 ◽

Cited By ~ 60

Author(s):

THASCHAWEE ARKACHAISRI ◽

NOREEN FERTIG ◽

SALLY PINO ◽

THOMAS A. MEDSGER

Keyword(s):

Disease Severity ◽

Clinical Features ◽

Disease Onset ◽

Serum Levels ◽

Adult Onset ◽

Childhood Onset ◽

Joint Contractures ◽

Linear Scleroderma ◽

Single Center Study ◽

Clinical Associations

ObjectiveTo determine the frequency of selected serum autoantibodies and their clinical associations in patients with childhood-onset (ChO) or adult-onset (AO) linear scleroderma (LiScl) evaluated at a single institution.MethodsSeventy-two patients (ChO = 40, AO = 32), including 12 with en coup de sabre, were studied. All ChO patients had disease onset before age 16 years. Clinical features (extent of cutaneous disease, activity, and joint contractures) were recorded. Antinuclear antibodies (ANA) were identified by indirect immunofluorescence (HEp-2 cells), and anti-single-stranded DNA (anti-ssDNA), antihistone (AHA), and antichromatin (AChA) autoantibodies were detected by ELISA.ResultsThere were no significant differences between groups in regard to gender, proportion with LiScl/E, or clinical features except joint contractures (ChO > AO; p = 0.04). There were no differences in the frequency of ANA or other autoantibodies between the groups except for AHA (ChO > AO). AHA was more frequently found with anti-ssDNA (p < 0.0001). LiScl patients with positive anti-ssDNA and/or AHA had more extensive cutaneous involvement and more often had joint contractures (p < 0.05). Anti-ssDNAwas present more frequently inAO than in ChO patients with active lesions (p = 0.04). ANA and AChA were not associated with any clinical features. Both AHA and anti-ssDNA levels showed good correlation with disease severity.ConclusionOver two-thirds of LiScl patients had ANA. Patients with ChO were similar to those with AO with regard to the frequency of selected serum autoantibodies. Anti-ssDNA and AHA were frequently found together and both were associated with more extensive skin disease with joint contractures. LiScl disease severity correlated with the serum levels of both these antibodies.

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