Clinical features of chronic summer-type hypersensitivity pneumonitis and proposition of diagnostic criteria

Abstract Background The mosaic form of neurofibromatosis type 1 (NF1) is called mosaic NF1 (MNF1). No specific MNF1 follow-up guidelines exist. It is debatable if patients with MNF1 should be clinically examined and undergo follow-up in accordance with the standard NF1 guidelines, as MNF1 patients more often may develop more benign phenotypes and thereby less disease-associated complications including cognitive impairment. We discussed the need for a specific MNF1 follow-up guideline with focus on frequency of plexiform neurofibromas and NF1-associated complications. Method A systematic retrospective data collection in a MNF1 cohort from one of two Danish national centers of NF1 Expertise was completed. Data collected included demographics, clinical features including NF1 diagnostic criteria and NF1-associated complications. Recent literature in the field was reviewed. Results We identified 17 patients with MNF1 with a median age of 37 years [4; 66]. Eleven (65%) were females. Five patients (30%) had a plexiform neurofibroma. The median age at detection of plexiform neurofibroma was 30 years [14; 60]. Nine (53%) had at least one NF1-related complication; scoliosis, hypertension, ADHD, learning disability, language delay, autism and delay in gross and fine motor function development. We reviewed nine articles. In total, 126 cases were described within three case-series. Nineteen (15%) had a plexiform neurofibroma and in total, 23 NF1-associated complications were reported including language delay, learning disability and skeletal abnormalities. Furthermore, from the literature it was evident that the diagnosing of MNF1 varies among physicians and across countries. Conclusion Patients with MNF1 present with plexiform neurofibromas and other NF1-related complications with a frequency requiring that follow-up of MNF1 patients should be in accordance with the standard NF1 guideline in both childhood and adulthood. Physicians should be aware of cognitive impairment as a complication to MNF1. To develop a specific MNF1 follow-up guideline, there is a need for an international consensus on the diagnostic criteria for MNF1 and a follow-up study conducted in a larger MNF1 cohort.

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Clinical Features and Endolymphatic Hydrops in Patients With MRI Evidence of Hydrops

Annals of Otology Rhinology & Laryngology ◽

10.1177/0003489418819551 ◽

2018 ◽

Vol 128 (4) ◽

pp. 286-292 ◽

Cited By ~ 6

Author(s):

Suming Shi ◽

Ping Guo ◽

Wenquan Li ◽

Wuqing Wang

Keyword(s):

Diagnostic Criteria ◽

Clinical Features ◽

Clinical Characteristics ◽

Clinical Symptoms ◽

Endolymphatic Hydrops ◽

Low Frequency ◽

Clinical Severity ◽

Mri Findings ◽

Vestibular Symptoms ◽

Magnetic Resonance Imaging Mri

Objectives: The purpose of this study was to investigate the correlation between grades of endolymphatic hydrops (ELH) and clinical characteristics and determine the detailed clinical characteristics of Ménière’s disease (MD) patients with evidence of hydrops based on magnetic resonance imaging (MRI). Methods: One hundred ninety-eight MD patients (396 ears) with MRI evidence of hydrops were included. ELH grades were evaluated using the Nakashima grading standard. Correlations between the extent of ELH and clinical features were evaluated. Detailed clinical characteristics were analyzed to assess the clinical diagnostic criteria. Results: Of 198 patients, ELH was observed in 100% of cases on the clinically affected side and 8.6% of cases on the asymptomatic side. In addition, 98.5% of ELH was classified as moderate or significant grade. Low-frequency hearing loss was significantly correlated with the extent of both vestibular and cochlear hydrops, whereas the vertigo attack frequency showed no significant correlation with ELH grades. The disease duration of MD with bilateral ELH was longer than that with unilateral ELH. The clinical characteristics were variant and did not completely fit the proposed diagnostic criteria. Conclusions: MRI findings have relevance to the clinical severity, to a certain extent, but not vestibular symptoms. The proposed diagnostic criteria based on clinical characteristics may be partially effective; analysis of the detailed clinical characteristics of MD was meaningful. Diagnosis of MD based on both MRI and clinical symptoms could facilitate an early diagnosis.

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Hypersensitivity pneumonitis: restrictive diagnostic criteria or a different disease?

Annals of Allergy Asthma & Immunology ◽

10.1016/s1081-1206(10)61197-0 ◽

2005 ◽

Vol 95 (2) ◽

pp. 99 ◽

Cited By ~ 2

Author(s):

Yvon Cormier

Keyword(s):

Diagnostic Criteria ◽

Hypersensitivity Pneumonitis

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Clinical features and disease severity in patients with mosaic neurofibromatosis type 1: a single-center study and literature review

10.21203/rs.3.rs-96774/v2 ◽

2021 ◽

Author(s):

Cecilie Ejerskov ◽

Maj Raundahl ◽

Pernille Axel Gregersen ◽

Mette Møller Handrup

Keyword(s):

Cognitive Impairment ◽

Learning Disability ◽

Diagnostic Criteria ◽

Clinical Features ◽

Neurofibromatosis Type 1 ◽

Plexiform Neurofibroma ◽

Neurofibromatosis Type ◽

Language Delay

Abstract BackgroundThe mosaic form of neurofibromatosis type 1 (NF1) is called mosaic NF1 (MNF1). No specific MNF1 follow-up guidelines exist. It is debatable if patients with MNF1 should be clinically examined and undergo follow-up in accordance with the standard NF1 guidelines, as MNF1 patients more often may develop more benign phenotypes and thereby less disease-associated complications including cognitive impairment. We discussed the need for a specific MNF1 follow-up guideline with focus on frequency of plexiform neurofibromas and NF1-associated complications.MethodA systematic retrospective data collection in a MNF1 cohort from one of two Danish national centers of NF1 Expertise was completed. Data collected included demographics, clinical features including NF1 diagnostic criteria and NF1-associated complications. Recent literature in the field was reviewed.ResultsWe identified 17 patients with MNF1 with a median age of 37 years [4; 66]. Eleven (65%) were females. Five patients (30%) had a plexiform neurofibroma. The median age at detection of plexiform neurofibroma was 30 years [14; 60]. Nine (53%) had at least one NF1-related complication; scoliosis, hypertension, ADHD, learning disability, language delay, autism and delay in gross and fine motor function development. We reviewed nine articles. In total, 126 cases were described within three case-series. Nineteen (15%) had a plexiform neurofibroma and in total, 23 NF1-associated complications were reported including language delay, learning disability and skeletal abnormalities. Furthermore, from the literature it was evident that the diagnosing of MNF1 varies among physicians and across countries. ConclusionPatients with MNF1 present with plexiform neurofibromas and other NF1-related complications with a frequency requiring that follow-up of MNF1 patients should be in accordance with the standard NF1 guideline in both childhood and adulthood. Physicians should be aware of cognitive impairment as a complication to MNF1. To develop a specific MNF1 follow-up guideline, there is a need for an international consensus on the diagnostic criteria for MNF1 and a follow-up study conducted in a larger MNF1 cohort.

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FRIEDREICH'S ATAXIA: A CLINICAL AND GENETIC STUDY OF 90 FAMILIES WITH AN ANALYSIS OF EARLY DIAGNOSTIC CRITERIA AND INTRAFAMILIAL CLUSTERING OF CLINICAL FEATURES

Brain ◽

10.1093/brain/104.3.589 ◽

1981 ◽

Vol 104 (3) ◽

pp. 589-620 ◽

Cited By ~ 600

Author(s):

A. E. HARDING

Keyword(s):

Diagnostic Criteria ◽

Clinical Features ◽

Genetic Study ◽

Friedreich’S Ataxia ◽

Friedreich's Ataxia ◽

Early Diagnostic

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Stiff Person Syndrome

10.1093/med/9780199732920.003.0030 ◽

2013 ◽

Author(s):

Aaron E. Miller ◽

Teresa M. DeAngelis

Keyword(s):

Diagnostic Criteria ◽

Clinical Features ◽

Therapeutic Options ◽

Stiff Person Syndrome ◽

Muscular Rigidity ◽

Unexplained Pain ◽

Electrophysiological Tests

Stiff person syndrome is an important autoimmune mediated disorder to consider in patients with unexplained pain and muscular rigidity. We review the proposed diagnostic criteria, common clinical features, and important serologic and electrophysiological tests to aid in diagnosis as well as medical and rehabilitative therapeutic options. In addition, we discuss the identification and management of possible paraneoplastic presentations.

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Severe Fever with Thrombocytopenia Syndrome Virus Infection Associated with Hemophagocytic Lymphohistiocytosis as Poor Prognostic Factor

Open Forum Infectious Diseases ◽

10.1093/ofid/ofx163.749 ◽

2017 ◽

Vol 4 (suppl_1) ◽

pp. S319-S319

Author(s):

Sunmin Park ◽

Juwon Kim ◽

Hyo Youl Kim ◽

Young Uh ◽

Young Keun Kim

Keyword(s):

Diagnostic Criteria ◽

Clinical Features ◽

Hemophagocytic Lymphohistiocytosis ◽

Inflammatory Diseases ◽

Clinical Feature ◽

Poor Prognostic Factor ◽

Immune Mediated ◽

Life Threatening ◽

Christian Hospital ◽

Severe Fever

Abstract Background Severe fever with thrombocytopenia (SFTS) is an emerging infectious disease caused by a novel bunyavirus designated SFTS virus (SFTSV) with a high fatality rate. Hemophagocytic lymphohistiocytosis (HLH) is an immune-mediated life-threatening disease triggered by infections, neoplasms and noninfectious inflammatory diseases. A few HLH associated with SFTSV were reported. According to the diagnostic criteria of HLH, 11 patients with SFTS were reviewed. Methods During last 2 years (2015–2016), 11 SFTS patients were diagnosed at the Wonju Severance Christian Hospital, Yonsei University Wonju College of Medicine, Wonju, South Korea. Clinical features were analyzed using diagnostic criteria of 2004-HLH trial. We described if the prognosis of SFTSV-infected patients was associated with clinical features of HLH. Results Of 11 patients, four patients were fulfillled the diagnostic criteria of 2004-HLH trial (five of eight criteria). Two patients were fulfilled the four criteria. Five patients were fulfilled three or less criteria. Three of six patients who fulfilled four or more criteria were died. There was no mortality in five patients who fulfilled three or less criteria. Hemophagocytosis in bone marrow (BM) was observed in all six patients who were taken BM study. Conclusion In SFTS, HLH was severe clinical feature and it might be associated with poor prognosis. Disclosures All authors: No reported disclosures.

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Clinical Diagnosis of Dementia: Core Clinical Features and Diagnostic Criteria

Hong Kong Journal of Radiology ◽

10.12809/hkjr1414277 ◽

2015 ◽

pp. 87-90

Author(s):

DLK Dai ◽

◽

GHY Wong ◽

YL Dai ◽

K Wang

Keyword(s):

Diagnostic Criteria ◽

Clinical Diagnosis ◽

Clinical Features ◽

Diagnosis Of Dementia

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Silver-Russell Syndrome: A Review

Neonatal Network The Journal of Neonatal Nursing ◽

10.1891/0730-0832.36.4.206 ◽

2017 ◽

Vol 36 (4) ◽

pp. 206-212 ◽

Cited By ~ 1

Author(s):

Bernice Sophie Spiteri ◽

Yanika Stafrace ◽

Jean Calleja-Agius

Keyword(s):

Birth Weight ◽

Low Birth Weight ◽

Short Stature ◽

Diagnostic Criteria ◽

Clinical Features ◽

Triangular Face ◽

Imprinting Disorder ◽

Ear Anomalies ◽

Skeletal Asymmetry ◽

Silver Russell Syndrome

AbstractSilver-Russell syndrome (SRS) is a rare congenital imprinting disorder. The genetic findings in SRS patients are heterogeneous and often sporadic. However, chromosomes 7, 11, and 17 are consistently involved in all individuals who meet the strict diagnostic criteria of SRS. There are many clinical features characteristic of SRS; the most common are low birth weight, short stature, triangular face, clinodactyly, relative macrocephaly, ear anomalies, and skeletal asymmetry.

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