scholarly journals A patient with Temple syndrome satisfying the clinical diagnostic criteria of Silver–Russell syndrome

2016 ◽  
Vol 170 (9) ◽  
pp. 2483-2485 ◽  
Author(s):  
Masahide Goto ◽  
Masayo Kagami ◽  
Gen Nishimura ◽  
Takanori Yamagata
Keyword(s):  
Diagnostic Criteria ◽  
Clinical Diagnostic ◽  
Temple Syndrome ◽  
Clinical Diagnostic Criteria ◽  
Silver Russell Syndrome

scholarly journals Diagnostic difficulties and possibilities of NF1-like syndromes in childhood

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Eva Pinti ◽  
Krisztina Nemeth ◽  
Krisztina Staub ◽  
Anna Lengyel ◽  
Gyorgy Fekete ◽  
...  
Keyword(s):  
Diagnostic Criteria ◽  
Neurofibromatosis Type ◽  
Early Years ◽  
Diagnostic Efficiency ◽  
Clinical Criteria ◽  
Pathogenic Variants ◽  
Clinical Diagnostic ◽  
Long Time ◽  
Diagnostic Difficulties ◽  
Clinical Diagnostic Criteria

Abstract Background Neurofibromatosis type 1 (NF1), which is caused by heterozygous inactivating pathogenic variants in the NF1, has poor phenotypic expressivity in the early years of life and there are numerous conditions, including many other tumor predisposition syndromes, that can mimic its appearance. These are collectively termed NF1-like syndromes and are also connected by their genetic background. Therefore, the NF1’s clinical diagnostic efficiency in childhood could be difficult and commonly should be completed with genetic testing. Methods To estimate the number of syndromes/conditions that could mimic NF1, we compiled them through an extensive search of the scientific literature. To test the utility of NF1’s National Institutes of Health (NIH) clinical diagnostic criteria, which have been in use for a long time, we analyzed the data of a 40-member pediatric cohort with symptoms of the NF1-like syndromes’ overlapping phenotype and performed NF1 genetic test, and established the average age when diagnostic suspicion arises. To facilitate timely identification, we compiled strongly suggestive phenotypic features and anamnestic data. Results In our cohort the utility of NF1’s clinical diagnostic criteria were very limited (sensitivity: 80%, specificity: 30%). Only 53% of children with clinically diagnosed NF1 had a detectable NF1 pathogenic variation, whereas 40% of patients without fulfilled clinical criteria tested positive. The average age at first genetic counseling was 9 years, and 40% of children were referred after at least one tumor had already been diagnosed. These results highlight the need to improve NF1-like syndromes’ diagnostic efficiency in childhood. We collected the most extensive spectrum of NF1-like syndromes to help the physicians in differential diagnosis. We recommend the detailed, non-invasive clinical evaluation of patients before referring them to a clinical geneticist. Conclusions Early diagnosis of NF1-like syndromes can help to prevent severe complications by appropriate monitoring and management. We propose a potential screening, diagnostic and management strategy based on our findings and recent scientific knowledge.

scholarly journals MRI is Unnecessary for Diagnosing Acute Achilles Tendon Ruptures: Clinical Diagnostic Criteria

2012 ◽  
Vol 470 (8) ◽  
pp. 2268-2273 ◽  
Author(s):  
David N. Garras ◽  
Steven M. Raikin ◽  
Suneel B. Bhat ◽  
Nicholas Taweel ◽  
Homyar Karanjia
Keyword(s):  
Achilles Tendon ◽  
Diagnostic Criteria ◽  
Clinical Diagnostic ◽  
Tendon Ruptures ◽  
Clinical Diagnostic Criteria

Clinical diagnostic criteria of modern spice addiction

2017 ◽  
Vol 41 (S1) ◽  
pp. s880-s880
Author(s):  
I. Sosin ◽  
Y. Chuev ◽  
G. Misko ◽  
O. Goncharova
Keyword(s):  
Diagnostic Criteria ◽  
Clinical Laboratory ◽  
Psychological Testing ◽  
Synthetic Analogues ◽  
Clinical Diagnostic ◽  
Hoarse Voice ◽  
Sexual Disinhibition ◽  
Competing Interest ◽  
Clinical Diagnostic Criteria

IntroductionPopulations of spice addicts in Ukraine demonstrate distinct tendency for steady spreading, and transitory psychotic episodes, overdosing and fatal cases are being registered in consequence of smoking. “Spice” are synthetic analogues of tetrahydrocannabinol.Aims and objectivesTo develop an average personified clinical portrait of spice addict for more specified therapy.MethodTwelve patients who consumed spices systematically for 1–2 years were observed. Methods of examination: clinical psychopathological, psychological testing, clinical laboratory.ResultsMain spice addiction diagnostic criteria were: Spice smoking, obsessive and uncontrolled anosognosic desire and craving to test on themselves effects of their action, pathognomonic tolerance increase, specific post-intoxication consequences. After the first smoke inspiration heavy intoxication with euphoria and loss of surrounding real perception, sexual disinhibition and craving to repeat smoking manifested after the first smoke inspiration. Then, spice smoking became subjectively pleasant, caused condition of intoxication with increased mood, fussiness, was accompanied with feeling of hunger, thirst, and hoarse voice. In the patients rather quickly (for 2–3 weeks) twice reduced duration of intoxication state from 40 to 20 minutes, loss of situation and quantitative control over smoking was observed. Clinical specifics of addiction for spices smoking is rather quick (from 5 to 10 trials) formation of psychic equivalent of addiction, extremely intensive and emotionally saturated craving for smoking, quick rise of tolerance with loss of situational and quantitative control over smoking.ConclusionsDefinite rules in the development and formation of spice dependence is necessary to be considered while developing programs for therapy and prevention in clinical narcology.Disclosure of interestThe authors have not supplied their declaration of competing interest.

Evaluation of the Diagnostic Criteria for Anti-NMDA Receptor Encephalitis in Japanese Children

Neurology ◽  
2021 ◽  
pp. 10.1212/WNL.0000000000011789
Author(s):  
Hiroya NISHIDA ◽  
Kuniko KOHYAMA ◽  
Satoko KUMADA ◽  
Jun-ichi TAKANASHI ◽  
Akihisa OKUMURA ◽  
...  
Keyword(s):  
Nmda Receptor ◽  
Diagnostic Criteria ◽  
Predictive Value ◽  
False Positive ◽  
Pediatric Population ◽  
True Positive ◽  
Positive Group ◽  
Nmdar Encephalitis ◽  
Clinical Diagnostic ◽  
Clinical Diagnostic Criteria

OBJECTIVE:To evaluate the validity of the 2016 clinical diagnostic criteria proposed for probable anti-NMDA receptor (NMDAR) encephalitis in children, we tested the criteria in a Japanese pediatric cohort.METHODS:We retrospectively reviewed clinical information of patients with neurological symptoms whose CSF were analyzed for NMDAR antibodies (Abs) in our laboratory from January 1, 2015, to March 31, 2019.RESULTS:Overall, 137 cases were included. Of the 41 cases diagnosed as probable anti-NMDAR encephalitis (“criteria-positive”) according to the 2016 criteria, 13 were positive and 28 were negative for anti-NMDAR Abs. Of the 96 criteria-negative cases, three were positive and 93 were negative for anti-NMDAR Abs. The sensitivity of the criteria was 81.2%, specificity was 76.9%, positive predictive value (PPV) was 31.7%, and negative predictive value was 96.9%. Compared with the true-positive group, the false-positive group contained more male than female patients (male:female, 4:9 in the true-positive vs. 19:9 in the false-positive group, p = 0.0425). The majority of the cases with false-positive diagnoses were associated with neurological autoimmunity.CONCLUSION:The clinical diagnostic criteria are reliable for deciding to start immunomodulatory therapy in the criteria-positive cases. Low PPV may be caused by a lower prevalence of NMDAR encephalitis and/or lower level of suspicion for encephalitis in the pediatric population. Physicians should therefore continue differential diagnosis, focusing especially on other forms of encephalitis.Classification of Evidence:This study provides Class IV evidence that the proposed diagnostic criteria for anti-NMDAR encephalitis in children has a sensitivity of 81.2% and a specificity of 76.9%.

Comparability of the Clinical Diagnostic Criteria for Vascular Dementia: A Critical Review. Part I

2008 ◽  
Vol 20 (2) ◽  
pp. 150-161 ◽  
Author(s):  
Sandra Wiederkehr ◽  
Martine Simard ◽  
Claudette Fortin ◽  
Robert van Reekum
Keyword(s):  
Vascular Dementia ◽  
Diagnostic Criteria ◽  
Critical Review ◽  
Clinical Diagnostic ◽  
Clinical Diagnostic Criteria

scholarly journals Japanese Clinical Diagnostic Criteria for Autoimmune Pancreatitis, 2018

Pancreas ◽  
2020 ◽  
Vol 49 (1) ◽  
pp. e13-e14 ◽  
Author(s):  
Shigeyuki Kawa ◽  
Terumi Kamisawa ◽  
Kenji Notohara ◽  
Yasunari Fujinaga ◽  
Dai Inoue ◽  
...  
Keyword(s):  
Diagnostic Criteria ◽  
Autoimmune Pancreatitis ◽  
Clinical Diagnostic ◽  
Clinical Diagnostic Criteria
Sign in / Sign up

Export Citation Format

Share Document