Objective: To describe the complexity of somatizing patients' symptomatology and the difficulties involved in the diagnostic process. DESIGN. Cross-sectional study of patients with medically unexplained symptoms.
Setting: Basque Health Service primary care centres in Bizkaia, Spain.
Subjects: The study comprised 156 patients selected at random from a list of 468 patients who had presented, over the course of their lives, six or more medically unexplained somatic symptoms for females and four or more for males, identified retrospectively by their practitioners.
Main Outcome Measures: Physicians interviewed these patients using the somatoform symptoms section of the Composite International Diagnostic Interview (CIDI), and the Primary Care Evaluation of Mental Disorders (PRIME-MD). The Medical Outcomes Survey Short Form 36 (SF-36) was filled in at home. Organic diseases whose diagnosis was established during the previous year were included in the study by consulting patients' medical records.
Results: Patients were found to have a median of three medically explained and 12 medically unexplained symptoms. Mental disorders were found in 83% of cases, associated with other morbidity categories in 78%. The predictive value of symptoms was lower than 26% for diagnosing broad disease categories.
Conclusions: These results depict an extremely difficult scenario for dichotomous diagnostic strategies aimed at classifying patients' symptoms as either organic or functional. Rather than struggling to choose one of these hypotheses, it is suggested that both of them should always be addressed concurrently.
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http://dx.doi.org/10.1080/02813430802048662 | DOI Listing |
Mol Genet Genomic Med
January 2025
The State Key Laboratory for Complex Severe and Rare Diseases, the State Key Sci-Tech Infrastructure for Translational Medicine, Peking Union Medical College Hospital, Beijing, China.
Background: Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder characterized by dysfunction of motile cilia. While approximately 50 genes have been identified, around 25% of PCD patients remain genetically unexplained; elucidating the pathogenicity of specific variants remains a challenge.
Methods: Whole exome sequencing (WES) and Sanger sequencing were conducted to identify potential pathogenic variants of PCD.
Am Heart J Plus
January 2025
Cardiology Division, NYU Langone Health and NYU School of Medicine, New York, NY, USA.
The right heart catheterization (RHC) remains an important diagnostic tool for a spectrum of cardiovascular disease processes including pulmonary hypertension (PH), shock, valvular heart disease, and unexplained dyspnea. While it gained widespread utilization after its introduction, the role of the RHC has evolved to provide valuable information for the management of advanced therapies in heart failure (HF) and cardiogenic shock (CS) to name a few. In this review, we provide a comprehensive overview on the indications, utilization, complications, interpretation, and calculations associated with RHC.
View Article and Find Full Text PDFCureus
December 2024
Internal Medicine, One Brooklyn Health, New York, USA.
We present a case report of a 72-year-old female with a history of stage III rectal adenocarcinoma undergoing chemotherapy who developed neutropenic sepsis and acute respiratory failure. The patient was admitted to the intensive care unit (ICU) due to worsening respiratory status and was subsequently diagnosed with disseminated herpes simplex virus (HSV) infection including acute respiratory distress syndrome (ARDS). This case highlights the challenges in diagnosing and managing HSV infection in critically ill patients and emphasizes the importance of early recognition and appropriate treatment in improving patient outcomes.
View Article and Find Full Text PDFEur J Haematol
January 2025
Faculty of Medicine, Tel Aviv University, Tel Aviv-Yafo, Israel.
Background: Bone marrow examination (BME) is the gold standard of diagnosing myelodysplastic syndromes (MDS).
Problems: it is invasive, painful, causing possible bleeding, inaccurate (aspirate hemodilution), and subjective (inter-observer interpretation discordance). We developed non-invasive diagnostic tools: A logistic regression formula [LeukRes 2018], then a web algorithm using 10 variables (age, gender, Hb, MCV, WBC, ANC, monocytes, PLT, glucose, creatinine) to diagnose/exclude MDS [BldAdv 2021].
Pediatr Res
January 2025
Center for Genetic Medicine, Children's National Research Institute, Washington, DC, USA.
Background: Prenatally transmitted viruses can cause severe damage to the developing brain. There is unexplained variability in prenatal brain injury and postnatal neurodevelopmental outcomes, suggesting disease modifiers. Of note, prenatal Zika infection can cause a spectrum of neurodevelopmental disorders, including congenital Zika syndrome.
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