Partial 5p Gain and 15q Loss in Three Patients from a Family with a t(5;15)(p13.3;q26.3) Translocation

2020 ◽  
Vol 160 (10) ◽  
pp. 589-596
Author(s):  
Fernanda T. Bellucco ◽  
Bianca P. Favilla ◽  
Eduardo Perrone ◽  
Maria I. Melaragno
Keyword(s):  
Genetic Counseling ◽  
Clinical Features ◽  
Clinical Picture ◽  
Clinical Findings ◽  
Accurate Diagnosis ◽  
Phenotypic Differences ◽  
Familial Translocation ◽  
Similar Combination ◽  
Chromosome Regions ◽  
Deletion Syndromes

Several patients with 5p duplication or 15q deletion have been reported in the literature, involving different chromosome regions and clinical features. Here, we describe a family in which we identified a 30-Mb 5p15.33p13.3 gain and a 2.5-Mb 15q26.3 loss in 3 individuals, due to a balanced familial translocation between chromosomes 5p and 15q. They presented a similar combination of clinical findings related to their genetic imbalances, but there were also phenotypic differences between them. Our analyses show that their clinical picture is mostly caused by the loss in 15q and not the gain in 5p, despite its much larger size. Our findings suggest that other genes, besides the <i>IGF1R</i> gene, in the 15q26.3 region, such as the <i>CHSY1</i> gene, may have a great impact on the clinical picture of the syndrome. Our data emphasize the importance of detailed cytogenomic and clinical analyses for an accurate diagnosis, prognosis, and genetic counseling, providing an opportunity to improve genotype-phenotype correlations of patients with partial 5p duplication and 15q deletion syndromes.

Preoperative prediction for lauren type of gastric cancer: A radiomics nomogram analysis based on CT images and clinical features

2021 ◽  
pp. 1-12
Author(s):  
Zongqiong Sun ◽  
Linfang Jin ◽  
Shuai Zhang ◽  
Shaofeng Duan ◽  
Wei Xing ◽  
...  
Keyword(s):  
Gastric Cancer ◽  
Clinical Features ◽  
Calibration Curve ◽  
Prediction Models ◽  
Ct Images ◽  
Clinical Findings ◽  
Training Set ◽  
Prediction Probability ◽  
Radiomics Signature ◽  
Testing Set

PURPOSE: To investigate feasibility of predicting Lauren type of gastric cancer based on CT radiomics nomogram before operation. MATERIALS AND METHODS: The clinical data and pre-treatment CT images of 300 gastric cancer patients with Lauren intestinal or diffuse type confirmed by postoperative pathology were retrospectively analyzed, who were randomly divided into training set and testing set with a ratio of 2:1. Clinical features were compared between the two Lauren types in the training set and testing set, respectively. Gastric tumors on CT images were manually segmented using ITK-SNAP software, and radiomic features of the segmented tumors were extracted, filtered and minimized using the least absolute shrinkage and selection operator (LASSO) regression to select optimal features and develop radiomics signature. A nomogram was constructed with radiomic features and clinical characteristics to predict Lauren type of gastric cancer. Clinical model, radiomics signature model, and the nomogram model were compared using the receiver operating characteristic (ROC) curve analysis with area under the curve (AUC). The calibration curve was used to test the agreement between prediction probability and actual clinical findings, and the decision curve was performed to assess the clinical usage of the nomogram model. RESULTS: In clinical features, Lauren type of gastric cancer relate to age and CT-N stage of patients (all p <  0.05). Radiomics signature was developed with the retained 10 radiomic features. The nomogram was constructed with the 2 clinical features and radiomics signature. Among 3 prediction models, performance of the nomogram was the best in predicting Lauren type of gastric cancer, with the respective AUC, accuracy, sensitivity and specificity of 0.864, 78.0%, 90.0%, 70.0%in the testing set. In addition, the calibration curve showed a good agreement between prediction probability and actual clinical findings (p >  0.05). CONCLUSION: The nomogram combining radiomics signature and clinical features is a useful tool with the increased value to predict Lauren type of gastric cancer.

scholarly journals Clinical Features and Outcomes of Community-Acquired Pneumonia Caused by Haemophilus Influenza

2021 ◽  
Vol 8 (4) ◽  
Author(s):  
Saeed Shoar ◽  
Fernando H Centeno ◽  
Daniel M Musher
Keyword(s):  
Clinical Features ◽  
Alcohol Use Disorder ◽  
Pneumococcal Pneumonia ◽  
Severe Infection ◽  
Clinical Findings ◽  
Community Acquired Pneumonia ◽  
Equal Frequency ◽  
Haemophilus Influenza ◽  
Radiologic Findings ◽  
Viral Coinfection

Abstract Background Long regarded as the second most common cause of community-acquired pneumonia (CAP), Haemophilus influenzae has recently been identified with almost equal frequency as pneumococcus in patients hospitalized for CAP. The literature lacks a detailed description of the presentation, clinical features, laboratory and radiologic findings, and outcomes in Haemophilus pneumonia. Methods During 2 prospective studies of patients hospitalized for CAP, we identified 33 patients with Haemophilus pneumonia. In order to provide context, we compared clinical findings in these patients with findings in 36 patients with pneumococcal pneumonia identified during the same period. We included and analyzed separately data from patients with viral coinfection. Patients with coinfection by other bacteria were excluded. Results Haemophilus pneumonia occurred in older adults who had underlying chronic lung disease, cardiac conditions, and alcohol use disorder, the same population at risk for pneumococcal pneumonia. However, in contrast to pneumococcal pneumonia, patients with Haemophilus pneumonia had less severe infection as shown by absence of septic shock on admission, less confusion, fewer cases of leukopenia or extreme leukocytosis, and no deaths at 30 days. Viral coinfection greatly increased the severity of Haemophilus, but not pneumococcal pneumonia. Conclusions We present the first thorough description of Haemophilus pneumonia, show that it is less severe than pneumococcal pneumonia, and document that viral coinfection greatly increases its severity. These distinctions are lost when the label CAP is liberally applied to all patients who come to the hospital from the community for pneumonia.

scholarly journals A framework for the evaluation of patients with congenital facial weakness

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Bryn D. Webb ◽  
Irini Manoli ◽  
Elizabeth C. Engle ◽  
Ethylin W. Jabs
Keyword(s):  
Genetic Counseling ◽  
Genetic Testing ◽  
Patient Population ◽  
Clinical Care ◽  
Diagnostic Algorithm ◽  
Accurate Diagnosis ◽  
Facial Weakness ◽  
The Core ◽  
Follow Up Studies

AbstractThere is a broad differential for patients presenting with congenital facial weakness, and initial misdiagnosis unfortunately is common for this phenotypic presentation. Here we present a framework to guide evaluation of patients with congenital facial weakness disorders to enable accurate diagnosis. The core categories of causes of congenital facial weakness include: neurogenic, neuromuscular junction, myopathic, and other. This diagnostic algorithm is presented, and physical exam considerations, additional follow-up studies and/or consultations, and appropriate genetic testing are discussed in detail. This framework should enable clinical geneticists, neurologists, and other rare disease specialists to feel prepared when encountering this patient population and guide diagnosis, genetic counseling, and clinical care.

scholarly journals Breast involvement of hematological malignancies: imaging and clinical findings

2021 ◽  
Vol 52 (1) ◽  
Author(s):  
Gamze Durhan ◽  
Figen Demirkazık
Keyword(s):  
Hematological Malignancies ◽  
Clinical Findings ◽  
Accurate Diagnosis ◽  
Radiological Findings ◽  
Breast Masses ◽  
Appropriate Treatment ◽  
Magnetic Resonance Imaging Mri ◽  
Type 3 ◽  
And Diffusion

Abstract Background Breast involvement of hematological malignancies is a very rare entity. Accurate diagnosis is essential for appropriate treatment. The aim of this study was to clarify the clinical and radiological findings of hematological malignancy breast involvement and to describe possible pitfalls in diagnosis. Results The images of 20 patients with breast involvement of hematological malignancies were retrospectively evaluated on ultrasonography, mammography, and magnetic resonance imaging (MRI) and the findings were reported. Bilaterality was seen only in cases with secondary involvement, and there was no marked difference between primary and secondary breast involvement of hematological malignancies. All patients underwent ultrasonography examination. According to ultrasonography, breast masses were most frequently irregular in shape (11/20, 55%) with non-circumscribed margins (11/20, 55%). Posterior acoustic enhancement was noted in 14 cases (70%). Posterior shadowing was not observed in any of the patients. Mammography was available in 10 patients. Microcalcification was not observed in any patient on mammography. MRI was available in four patients. Hyperintensity in T2-weighted images, type 2 or type 3 dynamic curve, and diffusion restriction were observed in all cases. Conclusions Hematological malignancies may mimic both benign breast lesions and breast carcinoma. Familiarity with the radiological features of hematological malignancies can help accurate diagnosis.

scholarly journals Lupus Miliaris Disseminatus Faciei versus Granulomatous Rosacea: A Case Report

2021 ◽  
pp. 321-329
Author(s):  
Ji-In Seo ◽  
Min Kyung Shin
Keyword(s):  
Case Report ◽  
Case Studies ◽  
Clinical Features ◽  
Scar Formation ◽  
Accurate Diagnosis ◽  
Delayed Treatment ◽  
Inflammatory Dermatoses ◽  
Granulomatous Rosacea

Lupus miliaris disseminatus faciei (LMDF) and granulomatous rosacea are 2 distinct inflammatory dermatoses with overlapping clinical features: reddish-yellow papular eruptions localized on the central face. Consequently, LMDF can easily be misdiagnosed as granulomatous rosacea or vice versa. Because delayed treatment in LMDF may increase chances of permanent scar formation, accurate diagnosis is important. We therefore analyzed published literature and case studies to organize the essential features differentiating LMDF from granulomatous rosacea. In addition, we report each case of LMDF and granulomatous rosacea for direct comparison.

scholarly journals Characterization of depressive syndrome in schizophrenic outpatients

2002 ◽  
Vol 24 (1) ◽  
pp. 18-25 ◽  
Author(s):  
Flávio Soares de Araújo ◽  
Kátia Petribú ◽  
Othon Bastos
Keyword(s):  
Clinical Features ◽  
Clinical Picture ◽  
Depression Scale ◽  
Cross Sectional Study ◽  
Depressive Syndrome ◽  
Psychosocial Stressors ◽  
First Episode ◽  
Psychotic Episode ◽  
Cross Sectional ◽  
Dsm Iv

OBJECTIVE: The authors carried out a cross-sectional study with the aim of characterizing and describing depressive pictures in schizophrenic patients seen at the Psychiatry Outpatient Clinic of the Federal University of Pernambuco (HC-UFPE). The patients had the diagnosis of schizophrenia confirmed on the basis of the operating criteria of the DSM-IV. METHODS: Those who where in the period of stabilization of the clinical picture were selected for the study defined according the following criteria:the last psychotic episode must be happened two months before at least, and during this period the alterations of the antipsychotics doses had been lower than 5 mg of haloperidol or equivalent doses of others neuroleptics. A total of one hundred and four patients took part. Following the identification of the depressive symptoms using the Calgary Depression Scale for Schizophrenia (CDSS), thirty-one patients (29.8%) fulfilled the diagnostic criteria described in the DSM-IV. Of these, 22.1% had the diagnosis of major depression and 7.7% of minor depression according the DSM-IV. Two groups were constituted: Group A, schizophrenics with a depressive syndrome, and Group B, schizophrenics without such a syndrome. An assessment was made of the distribution of the symptoms of the CDSS scores in both groups, the sociodemographic, clinical and therapeutic variables in relation to the frequency of the depressive syndrome, and the patients clinical course. For the investigation of certain clinical features, the following tools were used: problem list (psychosocial stressors) contained in axis IV of the DSM-IV intended to detect the presence of factors triggering the initial episode of schizophrenia and the Global Assessment of Functioning (GAF -- Axis V -- DSM-IV) to characterize the current functioning of the patients. CONCLUSIONS: The results obtained allowed the authors to draw the following conclusions: all the items that comprise the Brazilian version of the CDSS were statistically significant in characterizing the depressive syndrome; a comparison of the sociodemographic and therapeutic variables revealed no statistically significant differences between the two groups, and this was also the case with the majority of the clinical features. Statistically significant differences, however, were found in relation to the greater frequency of life events (psychosocial stressors) in triggering the first episode of schizophrenia and the higher incidence of affective disorders antecedents in family members (first and second degree) among the depressed patients. The mean duration of the depressive syndrome during follow-up of the patients was 5.30 months. The patients in whom there was a recurrence of the psychotic episode presented a delusional-hallucinatory clinical picture. This study seeks to contribute to the inclusion of the Postpsychotic Depressive Disorder (PSD) of Schizophrenia (DSM-IV), in the group of Schizophrenic Disorders.

scholarly journals Evaluation of Incidence and Clinical Features of Antibody-Associated Autoimmune Encephalitis Mimicking Dementia

2014 ◽  
Vol 2014 ◽  
pp. 1-4 ◽  
Author(s):  
Arzu Çoban ◽  
Cem İsmail Küçükali ◽  
Başar Bilgiç ◽  
Nazlı Yalçınkaya ◽  
Hazal Haytural ◽  
...  
Keyword(s):  
Clinical Features ◽  
Lewy Bodies ◽  
Rem Sleep Behavior Disorder ◽  
Behavior Disorder ◽  
Autoimmune Encephalitis ◽  
Clinical Findings ◽  
Acid Decarboxylase ◽  
Sleep Behavior ◽  
Clinical Criteria ◽  
Dementia Patients

Background. Anti-neuronal autoimmunity may cause cognitive impairment that meets the criteria for dementia.Objective. Our aim was to detect the incidence and clinical features of autoimmune encephalitis imitating clinical findings of primary dementia disorders and to delineate the validity of anti-neuronal antibody screening in dementia patients.Methods. Fifty consecutive patients fulfilling the clinical criteria for primary dementia, 130 control patients, and 50 healthy controls were included. Their sera were investigated for several ion channel and glutamic acid decarboxylase (GAD) antibodies by a cell-based assay, radioimmunoassay, and ELISA, as required.Results. Sixteen patients satisfying dementia criteria had atypical findings or findings suggestive of autoimmune encephalitis. N-methyl-D-aspartate receptor (NMDAR) antibody was detected in a patient with dementia, Parkinsonism, and REM sleep behavior disorder (RBD) fulfilling the criteria for dementia with Lewy bodies (DLB). One control patient with bipolar disease displayed low anti-GAD antibody levels.Conclusions. Our study showed for the first time the presence of parkinsonism and RBD in an anti-NMDAR encephalitis patient mimicking DLB. Although autoimmune encephalitis patients may occasionally present with cognitive decline, most dementia patients do not exhibit anti-neuronal antibodies, suggesting that routine analysis of these antibodies in dementia is not mandatory, even though they display atypical features.

scholarly journals Clinical features of cats with aqueous tear deficiency: a retrospective case series of 10 patients (17 eyes)

2018 ◽  
Vol 21 (10) ◽  
pp. 944-950 ◽  
Author(s):  
Lisa K Uhl ◽  
Akihiko Saito ◽  
Hiroko Iwashita ◽  
David J Maggs ◽  
Jonathan P Mochel ◽  
...  
Keyword(s):  
Clinical Features ◽  
Ocular Surface ◽  
Clinical Signs ◽  
Case Series ◽  
Reference Interval ◽  
Clinical Findings ◽  
Response To Therapy ◽  
Ocular Surface Disease ◽  
Retrospective Case ◽  
Schirmer Tear Test

Objectives The aim of this study was to describe the clinical findings, diagnostic test results and response to therapy of cats with Schirmer tear test 1 (STT-1) values below the reference interval. Methods The medical records of three institutions were searched for cats with ocular surface disease and STT-1 values <9 mm/min, confirmed at two or more separate visits. Results Ten cats (17 eyes) were included. The mean ± SD (range) age and STT-1 values in affected eye(s) were 6.1 ± 5.7 (0.2–16) years and 2.4 ± 3.1 (0–8) mm/min, respectively. Concurrent ocular surface disease was bilateral in 5/10 cats. Clinical signs included conjunctivitis (14/17 eyes), corneal ulceration (6/17 eyes), non-ulcerative keratitis (4/17 eyes), symblepharon (4/17 eyes), eosinophilic keratitis (3/17 eyes), corneal sequestrum (3/17 eyes), corneal fibrosis (2/17 eyes) and meibomitis (2/17 eyes). Management included: topically applied lacrimomimetics, antiviral drugs, corticosteroids or immunomodulatory drugs; orally administered famciclovir; or surgical procedures, in various combinations. Response to therapy (defined as an increase in STT-1 value of ⩾5 mm/min) was transient (seen at a single reassessment) in 65% of eyes and sustained (seen at ⩾2 consecutive reassessments) in 18% of eyes. Conclusions and relevance Clinical features seen in cats with low STT-1 values are described, although the association between aqueous deficiency and the reported ocular changes is unknown at this time. We encourage clinicians to assess the tear film in cats with ocular surface disease, and initiate therapy with lacrimomimetics if STT-1 values are repeatedly below normal. Such information will further define aqueous tear deficiency in cats, providing a better understanding of disease prevalence, pathogenesis and treatment.

scholarly journals Case Report: Bilateral mandibular buccal bifurcation cysts

F1000Research ◽  
2021 ◽  
Vol 9 ◽  
pp. 1502
Author(s):  
Ashwag Aloyouny ◽  
Hamad Albagieh ◽  
Soad Mansour ◽  
Fahmy Mobarak
Keyword(s):  
Case Report ◽  
Clinical Features ◽  
English Language ◽  
Accurate Diagnosis ◽  
Odontogenic Cyst ◽  
Optimal Management ◽  
Review Of The Literature

Buccal bifurcation cyst (BBC) is a rare inflammatory odontogenic cyst, which commonly affects children in the first decade of life. We report a case of a seven-year-old healthy boy with bilateral BBC, which involved unerupted incomplete permanent mandibular first molars. A review of the literature in English language revealed few similar cases. We reviewed 16 manuscripts of bilateral mandibular BBC, reporting a total of 20 cases since 1970. The clinical features of bilateral mandibular BBC summarized here could assist specialists with an accurate diagnosis and provide patients with optimal management.

STUDIES OF STABLE IODINE METABOLISM AS A GUIDE TO THE INTERPRETATION OF RADIOIODINE TESTS

1961 ◽  
Vol 37 (4) ◽  
pp. 597-606 ◽  
Author(s):  
D. A. Koutras ◽  
W. D. Alexander ◽  
W. W. Buchanan ◽  
J. Crooks ◽  
E. J. Wayne
Keyword(s):  
Clinical Features ◽  
Thyroid Function ◽  
Clinical Picture ◽  
Diagnostic Errors ◽  
Previous Treatment ◽  
The Body ◽  
High Uptake ◽  
Iodine Metabolism ◽  
Inorganic Iodine ◽  
Stable Iodine

ABSTRACT The results of radioiodine tests are dependent not only on thyroid function but also on the size of the iodine pools in which the radioiodine is diluted. The significance of the second factor is analysed in this paper and it is shown that there is a danger in interpreting radioiodine tests in isolation. The uptake of 131I is inversely related to the extrathyroidal inorganic iodine pool and the PB131I is inversely related to the intrathyroidal iodine pool. Both these pools may be diminished in euthyroid persons and thus a high uptake of 131I may be associated with a high PB131I and so lead to false diagnostic conclusions. In order to avoid diagnostic errors standard 131I tests should never be reported without some knowledge of relevant clinical features, for example, whether there is the possibility of prolonged iodine deficiency, of previous treatment, of Hashimoto's disease, or of dyshormonogenesis. In this way due weight can be given to factors which increase or decrease the iodine pools of the body and discrepancies between the clinical picture and radioiodine tests become obvious. More specific investigations can then be undertaken in appropriate cases.

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