Syndrome Diagnosis
Syndrome Diagnosis - Related Videos
07:34
FISH for Pre-implantation Genetic Diagnosis
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Cited by 17 •
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This article describes the selection of suitable probes for single-cell FISH, spreading techniques for blastomere nuclei, and in situ hybridization and signal scoring, applied to pre-implantation genetic diagnosis (PGD) in a clinical setting.
06:48
Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
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Cited by 3 •
2022
This protocol shows how to obtain a mass spectrometric "fingerprint" of leukocyte cardiolipin for the diagnosis of Barth syndrome. The assessment of elevated monolysocardiolipin to cardiolipin ratio discriminates patients with Barth syndrome from control heart failure patients with 100% sensitivity and specificity.
08:31
Conscious and Non-conscious Representations of Emotional Faces in Asperger's Syndrome
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Cited by 5 •
2016
An EEG experimental protocol is designed to clarify the interplay between conscious and non-conscious representations of emotional faces in patients with Asperger's syndrome. The technique suggests that patients with Asperger's syndrome have deficits in non-conscious representation of emotional faces, but have comparable performance in conscious representation with healthy controls.
08:03
Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model
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2025
This study proposed an age-adjusted regression modeling using midface and cranial base morphology as a potential tool for preoperative evaluation and individualized surgical planning for children with syndromic craniosynostosis (SC).
07:27
Robotic-assisted Left Pneumonectomy For Vanishing Lung Syndrome
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2026
Robotic-assisted pneumonectomy is safe and effective in the management of Vanishing Lung Syndrome, with reduced morbidity and faster recovery times.
FAQs
The process considers whether multiple findings occur together in a recognizable and clinically consistent pattern. Clinicians assess the relationship among signs, symptoms, and functional abnormalities rather than treating each finding independently. This pattern-based approach can organize a complex presentation, support communication among healthcare professionals, and indicate which additional conditions or causes require investigation.
Defined diagnostic criteria provide a structured way to compare a patient’s presentation with the features associated with a particular syndrome. They help clinicians apply a consistent standard, identify which findings support the diagnosis, and recognize features that do not fit. Criteria therefore improve clinical communication while still requiring interpretation alongside history, examination, and test results.
A syndrome diagnosis does not end the clinical reasoning process because similar patterns may arise from different conditions. Clinicians compare the observed findings with possible alternatives and use history, physical examination, laboratory results, imaging, or other tests to exclude explanations that better account for the presentation. This step helps prevent premature conclusions and guides further evaluation.
Laboratory tests, imaging, and other diagnostic studies add objective information to the clinical pattern identified from the patient’s history and examination. Their findings may support the consistency of a syndrome, reveal functional abnormalities, or help exclude alternative conditions. The value of each test depends on how well its results clarify the overall presentation rather than on any finding considered alone.
Clinicians generally begin by gathering the patient’s history and performing a physical examination, then organize the reported symptoms, observed signs, and functional abnormalities into a coherent pattern. They compare that pattern with relevant diagnostic criteria and select laboratory, imaging, or other tests as needed. Results are integrated to support the working diagnosis and determine whether further investigation is necessary.
It is particularly useful when a patient presents with a complex combination of findings and the single underlying cause has not yet been established. Recognizing the pattern can support timely management, provide a practical framework for continued investigation, and help healthcare teams communicate about the presentation. The diagnosis may later be refined as additional evidence clarifies its cause or mechanism.