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American Journal of Medical Genetics.... Jul 2010Cornelia de Lange syndrome (CdLS) is a dominant disorder with classic severe forms and milder atypical variants. Central to making the diagnosis is identification of...
Cornelia de Lange syndrome (CdLS) is a dominant disorder with classic severe forms and milder atypical variants. Central to making the diagnosis is identification of diagnostic facial features. With the recognition that patients with SMC1A and SMC3 mutations have milder, atypical features, we surveyed 65 dysmorphologists using facial photographs from 32 CdLS patients with the goals of (1) Illustrating examples of milder patients with SMC1A mutations and (2) Obtaining objective data to determine which facial features were useful and misleading in making a diagnosis of CdLS. Clinicians were surveyed whether the patient had CdLS or another diagnosis, the certainty of response and the clinical features used to support each response. Using only facial photographs, an average of 24 cases (75%) were accurately diagnosed per clinician. Correct diagnoses were made in 90% of classic CdLS and 87% of non-CdLS cases, however, only 54% of mild or variant CdLS were correctly diagnosed by respondents. We confirmed that CdLS is most accurately diagnosed in childhood and the diagnosis becomes increasingly difficult with age. This survey demonstrated that emphasis is placed on the eyebrows, nasal features, prominent upper lip and micrognathia. In addition, the presence of fuller, atypical eyebrows, a prominent nasal bridge and significant prognathism with age dissuaded survey takers from arriving at a diagnosis of CdLS in individuals with mild NIPBL and SMC1A mutations. This work underscores the difficulty in diagnosing patients with mild and variant CdLS and serves to objectively classify both useful and misleading features in the diagnosis of CdLS.
Topics: Adolescent; Child; Child, Preschool; Clinical Competence; Cohort Studies; De Lange Syndrome; Facies; Health Surveys; Humans; Infant; Infant, Newborn; Young Adult
PubMed: 20583156
DOI: 10.1002/ajmg.a.33441 -
BMC Medical Imaging Apr 2021Cardiac lipoma is a rare primary tumor in the heart and pericardium. Multimodality imaging methods, especially magnetic resonance imaging (MRI), are crucial in detecting...
BACKGROUND
Cardiac lipoma is a rare primary tumor in the heart and pericardium. Multimodality imaging methods, especially magnetic resonance imaging (MRI), are crucial in detecting and diagnosing cardiac lipomas. Besides, they are of significant importance in management of cardiac lipomas. The aim of this study was to evaluate the value of multimodality imaging methods in diagnosing and treatment of cardiac lipoma by describing a series of cases of cardiac lipoma.
MATERIALS AND METHODS
Data of patients with cardiac lipoma at a local institution were retrospectively collected. Their imaging findings on echocardiography, computed tomography (CT), and cardiac MRI and clinical management were described in detail.
RESULTS
12 patients with cardiac lipoma were retrospectively included with thirteen lipomas found within heart and pericardium. Two patients' lipoma were symptomatic, while lipomas in other 10 patients were found incidentally. Most lipomas were sensitively detected with echocardiography. Accurate diagnoses were achieved with CT and MRI in all cases. Surgical resection was performed in one symptomatic patient due to the obstruction of the left ventricular outflow tract, while the removal of pericardial lipoma in another symptomatic patient was not possible due to diffuse myocardial infiltration observed in MRI. Based on MRI findings, two patients without clinical symptoms also underwent surgery to prevent the risk of detachment of ventricular lipoma with a narrow pedicle in one patient and potential further thinning of the myocardium by pericardial lipoma growth in another patient.
CONCLUSIONS
Cardiac lipoma could be sensitively detected and accurately diagnosed with multiple noninvasive imaging tools. Comprehensive evaluation with multimodality imaging methods should also be conducted for better management planning and follow-up in all patients.
Topics: Adult; Aged; Aged, 80 and over; Echocardiography; Female; Heart Neoplasms; Humans; Incidental Findings; Lipoma; Magnetic Resonance Imaging; Male; Middle Aged; Multimodal Imaging; Pericardium; Retrospective Studies; Tomography, X-Ray Computed; Young Adult
PubMed: 33858367
DOI: 10.1186/s12880-021-00603-6 -
International Journal of Pediatric... Feb 2022This study aims to investigate the inter-rater reliability and agreement of the diagnosis of otitis media with effusion, acute otitis media, and no effusion cases based...
OBJECTIVES
This study aims to investigate the inter-rater reliability and agreement of the diagnosis of otitis media with effusion, acute otitis media, and no effusion cases based on an otoscopy image and in some cases an additional wideband tympanometry measurement of the patient.
METHODS
1409 cases were examined and diagnosed by an otolaryngologist in the clinic, and otoscopy examination and wideband tympanometry (WBT) measurement were conducted. Afterwards, four otolaryngologists (Ear, Nose, and Throat doctors, ENTs), who did not perform the acute examination of the patients, evaluated the otoscopy images and WBT measurements results for diagnosis (acute otitis media, otitis media with effusion, or no effusion). They also specified their diagnostic certainty for each case, and reported whether they used the image, wideband tympanometry, or both, for diagnosis.
RESULTS
All four ENTs agreed on the diagnosis in 57% of the cases, with a pairwise agreement of 74%, and a Light's Kappa of 0.58. There are, however, large differences in agreement and certainty between the three diagnoses. Acute otitis media yields the highest agreement (77% between all four ENTs) and certainty (0.90), while no effusion shows much lower agreement and certainty (34% and 0.58, respectively). There is a positive correlation between certainty and agreement between the ENTs across all cases, and both certainty and agreement increase for cases where a WBT measurement is shown in addition to the otoscopy image.
CONCLUSIONS
The inter-rater reliability between four ENTs was high when diagnosing acute otitis media and lower when diagnosing otitis media with effusion. However, WBT can add valuable information to get closer to the ground-truth diagnosis without myringotomy. Furthermore, the diagnostic certainty increases when the WBT is examined together with the otoscopy image.
Topics: Acoustic Impedance Tests; Humans; Infant; Otitis Media; Otitis Media with Effusion; Otoscopes; Otoscopy; Reproducibility of Results
PubMed: 35033784
DOI: 10.1016/j.ijporl.2021.111034 -
CMAJ : Canadian Medical Association... Oct 1987The diagnosis of dementia in the elderly has important personal and social consequences, and a small proportion of cases initially diagnosed may be reversible. An...
The diagnosis of dementia in the elderly has important personal and social consequences, and a small proportion of cases initially diagnosed may be reversible. An understanding of the operating characteristics and cost-effectiveness of clinical signs and symptoms and of laboratory investigations in the diagnosis of dementia is needed to diagnose accurately yet contain costs. Using published criteria, we critically appraised the current scientific literature on the diagnosis of dementia. The articles that essentially satisfied our criteria suggested that duration and severity of dementia best predicted reversibility and the need for computed tomography of the head. A decision rule may be used to select among a number of investigations now advocated as routine in diagnosing dementia, with little or no risk of missing clinically significant diagnoses and with appreciable cost savings. The reversibility of dementia may not be as major an issue as previously believed, since most instances may be early, atypical presentations of Alzheimer-type dementia.
Topics: Aged; Clinical Laboratory Techniques; Cognition Disorders; Costs and Cost Analysis; Dementia; Humans; Tomography, X-Ray Computed
PubMed: 3651928
DOI: No ID Found -
BMC Gastroenterology Oct 2021The clinical features of amoebic colitis resemble those of inflammatory bowel disease (IBD), and therefore the risk of misdiagnosis is very high. The aim of this study...
BACKGROUND
The clinical features of amoebic colitis resemble those of inflammatory bowel disease (IBD), and therefore the risk of misdiagnosis is very high. The aim of this study was to analyse the characteristics of the endoscopic and pathological findings of amebic colitis and the lessons from our patients, which were useful for diagnosing the amebic colitis timely and avoiding the serious complication.
METHODS
We retrospectively reviewed data of all amebic colitis admitted to Beijing Friendship Hospital from January 2015 to January 2020. Cases were diagnosed by clinical presentation, laboratory examinations, and colonoscopy with biopsy and histological examination, no ELISA stool antigen or PCR tests were used.
RESULTS
16 patients were diagnosed with amebic colitis by the colonoscopy accompanied by biopsy and microscopic examination. At first time, 12 (75%) patients were misdiagnosed as IBD. Cecum was the most common site of amebic colitis (100%), and the caecum and rectum were also involved in many lesions (68.75%). Multiple lesions of erosion and/or ulcer were recognized in all patients (100%).The endoscopic findings included multiple irregular shaped ulcers and erosions with surrounding erythema, and the ulcers and erosions were covered by the white or yellow exudates. The intervening mucosae between the ulcers or erosions were normal. The features of rectums can be divided to 2 types: in 6 patients (54.5%), the irregular ulcer or erosions covered with white or yellow exudates were observed in rectum and cecum, and the bloody exudates in rectum were more severe than those in cecum; in other 5 patients (45.5%), rectal lesions were much less severe than those in cecum, the small superficial erosion or reddened mucosa were observed in the rectal ampulla. All patients were diagnosed as detection of amebic trophozoites from HE-stained biopsy specimens. The number of trophozoites ranged from 1/HPF to > 50/HPF. Among 16 cases, mild architectural alteration of colon crypt were observed in 10 cases (62.5%), and serious architectural alteration of colon crypt was found which had crypt branch in 1 case (16.7%). Cryptitis was observed in 12 cases (75%) and its severity was mild or moderate. No crypts abscess was observed in all cases.
CONCLUSIONS
The colonoscopy with histological examination are very important to diagnose the amebic colitis. Detect the amoebic trophozoites in the exudates by histological examination is the vital. Sometimes a negative biopsy does not rule out amebiasis, repeated biopsies may be needed to make the diagnosis.
Topics: Colonoscopy; Diagnosis, Differential; Dysentery, Amebic; Humans; Inflammatory Bowel Diseases; Retrospective Studies
PubMed: 34627159
DOI: 10.1186/s12876-021-01941-z -
Lakartidningen May 2018There are many episodic conditions which may be confused with epileptic seizures. The diagnosis of epileptic seizures is still dependent on a good history and witness...
There are many episodic conditions which may be confused with epileptic seizures. The diagnosis of epileptic seizures is still dependent on a good history and witness report, as well as good knowledge of seizure semiology, and of the symptoms of a variety of differential diagnostic conditions. The principal differential diagnoses in adults and children are outlined in this review. The diagnostic problems do not exist only initially, so it is important to reconsider the diagnosis when deemed relevant. The possibility of home video recordings of recurring attacks may be helpful. Neuroimaging and interictal EEG cannot confirm or exclude epilepsy but can demonstrate relevant pathology and are of prognostic importance.
Topics: Adult; Child; Diagnosis, Differential; Epilepsy; Humans; Medical History Taking; Seizures
PubMed: 29786809
DOI: No ID Found -
Der Pathologe Feb 2020Interstitial lung diseases present clinically with unspecific respiratory symptoms and occur idiopathically or etiologically linked to various causes. The morphology of... (Review)
Review
Interstitial lung diseases present clinically with unspecific respiratory symptoms and occur idiopathically or etiologically linked to various causes. The morphology of interstitial lung diseases (radiology or histopathology) may also be unspecific in the individual case, due to the limited arsenal of reaction patterns of the lungs. Only the combination of all findings assembled during multidisciplinary discussion (MDD) between pulmonologist, radiologist and pathologist, and if required other specialties, enables a highly reliable final diagnosis, permitting improved, personalized patient treatment. The necessity for histological evaluation and the means of tissue acquisition should also be decided on during MDD, considering clinical and radiological differential diagnoses, the risks involved in the procedures and patient-specific characteristics. In the current review, we discuss MDD as the diagnostic gold standard and exemplify its merit presenting a case of interstitial lung disease.
Topics: Diagnosis, Differential; Humans; Lung; Lung Diseases, Interstitial; Radiography
PubMed: 31858183
DOI: 10.1007/s00292-019-00725-3 -
Fukushima Journal of Medical Science Aug 2017Endoscopic ultrasonography (EUS) plays a major role in diagnosing gallbladder (GB) cancer and pancreatic cancer (PC). In cases of GB cancer, EUS allows for precise... (Review)
Review
Endoscopic ultrasonography (EUS) plays a major role in diagnosing gallbladder (GB) cancer and pancreatic cancer (PC). In cases of GB cancer, EUS allows for precise observations of morphology and wall layers. However, proficiency is required for the morphologic diagnosis of GB tumors. Therefore, contrast-enhanced harmonic EUS (CH-EUS) began to be performed to diagnose GB lesions. CH-EUS enables real-time observation of the hemodynamics of GB tumors. The enhanced patterns generated by CH-EUS improve precision in the diagnosis of such tumors.PC appears as a hypoechoic mass on EUS. However, distinguishing between PC and mass-forming pancreatitis or focal autoimmune pancreatitis (AIP) is difficult via conventional EUS. CH-EUS allows for differentiating among these diseases (PC is hypoenhanced and heterogeneously enhanced, pancreatitis is isoenhanced, and a pancreatic neuroendocrine tumor is hyperenhanced). EUS-guided fine needle aspiration (EUS-FNA) also contributes to pathological diagnoses of pancreatic lesions. However, certain PC patients cannot be diagnosed via EUS-FNA. PC is heterogeneously enhanced on CH-EUS, and unenhanced regions have been reported to be areas of fibrosis or necrosis. CH-EUS-guided fine needle aspiration (CH-EUS-FNA) permits puncturing of the enhanced area while avoiding necrotic and fibrotic regions. Moreover, as CH-EUS findings have been quantitatively analyzed, a time-intensity curve (TIC) has become usable for diagnosing solid pancreatic lesions. CH-EUS-related techniques have been developed and increasingly utilized in the pancreaticobiliary area.
Topics: Contrast Media; Endoscopic Ultrasound-Guided Fine Needle Aspiration; Endosonography; Gallbladder Neoplasms; Humans; Image Enhancement; Pancreatic Neoplasms
PubMed: 28680009
DOI: 10.5387/fms.2017-04 -
American Family Physician May 2004Patients with chronic cough should avoid exposure to irritants that can trigger cough, and those who smoke should stop smoking. Patients who develop chronic cough in... (Review)
Review
Patients with chronic cough should avoid exposure to irritants that can trigger cough, and those who smoke should stop smoking. Patients who develop chronic cough in association with angiotensin-converting enzyme inhibitor therapy should be switched to an agent from another drug class. If cough persists, a chest radiograph should be ordered to rule out malignancy and other serious conditions. Postnasal drip syndrome, asthma, and gastroesophageal reflux disease are the most likely causes of chronic cough in adults. If postnasal drip syndrome is suspected, a trial of a decongestant and a first-generation antihistamine is warranted. Pulmonary function testing with a methacholine challenge is the preferred test for confirming the diagnosis of asthma. Gastroesophageal reflux disease usually is diagnosed based on the symptoms and after a trial of therapy. If the cause of chronic cough remains unclear, high-resolution computed tomographic scanning of the chest, bronchoscopy, and referral to a pulmonary specialist may be indicated. The approach to diagnosing chronic cough in immunocompromised patients and children is similar to the approach in immunocompetent adults. However, a CD4+ cell count can help determine the potential for opportunistic infections in immunocompromised patients. Respiratory tract infections, asthma, and gastroesophageal reflux disease are the most common causes of chronic cough in children. Foreign body aspiration should be considered in young children. Congenital conditions, cystic fibrosis, and immune disorders are possible diagnoses in children with chronic cough and recurrent infection.
Topics: Algorithms; Chronic Disease; Cough; Humans; Radiography, Thoracic
PubMed: 15152964
DOI: No ID Found -
Ultrasound in Obstetrics & Gynecology :... May 2016To examine the accuracy of fetal echocardiography in diagnosing congenital heart disease (CHD) at the fetal medicine units of three tertiary care centers.
OBJECTIVE
To examine the accuracy of fetal echocardiography in diagnosing congenital heart disease (CHD) at the fetal medicine units of three tertiary care centers.
METHODS
This was a multicenter cohort study of tertiary echocardiography referrals between 2002 and 2012. Prenatal and postnatal diagnoses were compared and the degree of agreement was classified as 'correct' (anatomy correct and the postnatal diagnosis led to a similar outcome as expected), 'discrepant' (anatomical discrepancies present but the severity and prognosis of the defect were diagnosed correctly) or 'no similarity' (the pre- and postnatal diagnoses differed completely).
RESULTS
We included 708 cases with CHD for which both prenatal and postnatal data were available. The prenatal diagnosis was correct in 82.1% of cases and discrepancies present were present in 9.9%; however, these did not result in a different outcome. In 8.1% there was no similarity between prenatal and postnatal diagnoses. Disagreement between pre- and postnatal diagnoses occurred significantly more frequently in cases that presented with a normal four-chamber view than in those with an abnormal four-chamber view (5.5% vs 1.9%). Incorrect identification of the outflow tracts and incorrect differentiation between unbalanced atrioventricular septal defect and hypoplastic left heart syndrome were relatively commonly encountered. In many cases with disagreement, trisomy 21, extracardiac anomaly or a high maternal body mass index was present.
CONCLUSIONS
The prenatal diagnosis and estimated prognosis of fetal echocardiography in our tertiary referral centers were appropriate in 92% of cases. Some types of CHD remain difficult to diagnose or rule-out prenatally, therefore awareness and education are of considerable importance. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd.
Topics: Cohort Studies; Echocardiography; Female; Heart Defects, Congenital; Humans; Pregnancy; Prenatal Diagnosis; Sensitivity and Specificity; Tertiary Care Centers; Ultrasonography, Prenatal
PubMed: 26350159
DOI: 10.1002/uog.15742