339,219 results match your criteria features patient


An intronic variant disrupts mRNA splicing and causes -related skeletal dysplasia.

J Pediatr Endocrinol Metab 2021 Jun 23. Epub 2021 Jun 23.

Department of Pediatric Endocrinology and Genetics, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine; Shanghai Institute for Pediatric Research, Shanghai, China.

Objectives: Achondroplasia and hypochondroplasia are the most common forms of disproportionate short stature, of which the vast majority of cases can be attributed to the hotspot missense mutations in the gene . Here we presented cases with a novel cryptic splicing variant of gene and aimed to interrogate the variant pathogenicity.

Case Presentaiton: In whole exome sequencing of two patients with hypochondroplasia-like features, a intronic variant c. Read More

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Molecular and clinical findings of Turkish patients with hereditary fructose intolerance.

J Pediatr Endocrinol Metab 2021 Jun 23. Epub 2021 Jun 23.

Ankara Yıldırım Beyazıt University, Ankara City Hospital, Ankara, Turkey.

Objectives: Hereditary fructose intolerance (HFI) is an autosomal recessive disorder caused by a deficiency in aldolase B that can result in hypoglycemia, nausea, vomiting, abdominal pain, liver and kidney dysfunction, coma, and even death. This study aims to represent the clinical features and molecular genetic analysis data of the patients diagnosed with HFI in our study population.

Methods: The medical records of the 26 patients with HFI were evaluated retrospectively. Read More

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Oestrogen receptor activity in hormone-dependent breast cancer during chemotherapy: ER activity in pre-menopausal HR+ breast cancer during CT.

EBioMedicine 2021 Jun 20;69:103451. Epub 2021 Jun 20.

Translational Genomics and Targeted Therapies in Solid Tumors, August Pi i Sunyer Biomedical Research Institute (IDIBAPS), Barcelona, Spain; Department of Medical Oncology, Hospital Clinic of Barcelona, Spain; SOLTI cooperative group, Barcelona, Spain; Institute of Oncology (IOB)-Hospital Quirónsalud, Barcelona, Spain; Lineberger Comprehensive Cancer Center, University of North Carolina, Chapel Hill, USA; Department of Medicine, University of Barcelona, Barcelona, Spain. Electronic address:

Background: Chemotherapy efficacy in early-stage hormone receptor-positive (HR+) breast cancer (BC) according to menopausal status needs a biological explanation.

Methods: We compared early-stage HR+ BC biological features before and after (neo)adjuvant chemotherapy or endocrine therapy (ET), and assessed oestrogen receptor (ER) pathway activity in both pre- and post-menopausal patients. The nCounter platform was used to detect gene expression levels. Read More

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Comparative analysis of hippocampal transcriptional features between major depressive disorder patients and animal models.

J Affect Disord 2021 Jun 11;293:19-28. Epub 2021 Jun 11.

NHC Key Laboratory of Diagnosis and Treatment on Brain Functional Diseases, The First Affiliated Hospital of Chongqing Medical University, Chongqing 400016, China; Department of Neurology, The First Affiliated Hospital of Chongqing Medical University, Chongqing 400016, China. Electronic address:

Background: Major depressive disorder (MDD) is a psychiatric disorder caused by various etiologies. Chronic stress models are used to simulate the heterogeneous pathogenic processes of depression. However, few studies have compared transcriptional features between stress models and MDD patients. Read More

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Morphological Correlations in Nasolabial Formation After Primary Lip Repair for Unilateral Cleft Lip.

J Oral Maxillofac Surg 2021 May 19. Epub 2021 May 19.

Special Advisor, Department of Oral and Maxillofacial Surgery, Osaka Women's and Children's Hospital, Osaka, Japan.

Purpose: We aim to reveal postoperative morphological correlations between the nasolabial components in patients with unilateral cleft lip (UCL). The hypothetical correlations are first, a correlation between the vertical height of the cleft-side alar base and the length of the cleft-side red lip, and second, a correlation between the length of the cleft-side red lip and the vertical position of the cleft-side oral commissure. We explain how these morphological balances are controlled by surgery. Read More

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Dismal outcome of relapsed or primary refractory adult T-cell lymphoblastic lymphoma: A retrospective study from China.

Asia Pac J Clin Oncol 2021 Jun 23. Epub 2021 Jun 23.

Department of Medical Oncology, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing Key Laboratory of Clinical Study on Anticancer Molecular Targeted Drugs, Beijing, China.

Aim: Little is known about the outcome and prognostic factors of relapsed or refractory T-cell lymphoblastic lymphoma (T-LBL), especially in adult patients. The aim of this study was to analyze the characteristics, outcome and prognostic factors for this patient population.

Methods: Between January 2006 and December 2017, we retrospectively analyzed 84 adult patients with T-LBL, and 44 relapsed or primary refractory patients were included in this analysis. Read More

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Loss of CDX-2 expression is an independent poor prognostic biomarker in patients with early-stage deficient mismatch repair colorectal cancer.

Asia Pac J Clin Oncol 2021 Jun 23. Epub 2021 Jun 23.

Division of Medical Oncology, Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.

Aim: To investigate the clinicopathological factors, molecular features, and prognostic implications associated with loss of Caudal-related homeobox transcription factor 2 (CDX-2) expression in colorectal cancer (CRC) patients.

Methods: Immunohistochemistry for CDX-2 expression was performed on formalin-fixed, paraffin-embedded primary CRC tissue samples from 449 patients. Correlation between CDX-2 expression and clinicopathological and molecular characteristics was evaluated. Read More

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Only SF3B1 mutation involving K700E independently predicts overall survival in myelodysplastic syndromes.

Cancer 2021 Jun 23. Epub 2021 Jun 23.

Department of Leukemia, The University of Texas MD Anderson Cancer Center, Houston, Texas.

Background: SF3B1 mutations (SF3B1 ) in myelodysplastic syndromes (MDS) frequently involve codon K700E and have a favorable prognosis. The prognostic effect of non-K700E SF3B1 is uncertain.

Methods: The authors analyzed the clinicopathological features and outcomes of a single-institution series of 94 treatment-naive SF3B1 MDS patients (18%) and 415 treatment-naive SF3B1 MDS patients and explored the differences between K700E and non-K700E SF3B1 MDS. Read More

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High-pressure balloon dilatation for the treatment of primary obstructive megaureter: is it the first line of treatment in children and infants?

Swiss Med Wkly 2021 Jun 23;151:w20513. Epub 2021 Jun 23.

Paediatric Urology Unit, "Santobono- Pausilipon" Children's Hospital, Naples, Italy.

Aims Of The Study: To evaluate the efficacy of high-pressure balloon dilatation (HPBD) as treatment of primary obstructive megaureter (POM) in paediatric patients, we analysed the data of our institute from June 2018 to September 2019.

Methods: 14 patients, aged 5 months to 5 years, with POM were treated with HPBD. All patients had a distal ureter dilatation greater than 7 mm associated with obstructive features on a mercaptoacetyl triglycine-3 diuretic renogram scan, and a voiding cystourethrogram without vesicoureteral reflux. Read More

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Comparison of the Safety of Prophylactic Anticoagulants After Intracranial Surgery.

Neurosurgery 2021 Jun 23. Epub 2021 Jun 23.

Department of Neurosurgery, University of California, Los Angeles, Los Angeles, California, USA.

Background: Venous thromboembolism (VTE) represents a rare but preventable postoperative complication. Unfractionated heparin (UH) and low-molecular-weight heparin (LMWH) are used to prevent VTE, but comparative studies of their safety and efficacy in the neurosurgical context are limited.

Objective: To determine the relative safety and efficacy of UH and LMWH for prophylaxis after cranial surgery. Read More

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Early and late-onset nonconvulsive status epilepticus after stroke.

Arq Neuropsiquiatr 2021 May;79(5):384-389

Antalya Education and Research Hospital, Department of Neurology, Antalya, Turkey.

Background: Nonconvulsive status epilepticus (NCSE) is a condition that needs timely diagnosis and treatment. It has insignificant clinical features and presents high risk of misdiagnosis.

Objective: To investigate NCSE among patients with stroke, given that stroke plays an important role in the etiology of NCSE. Read More

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Comparison of two pandemics: H1N1 and SARS-CoV-2.

Rev Assoc Med Bras (1992) 2021 Jan;67(1):115-119

Karadeniz Technical University, Faculty of Medicine, Department of Infectious Diseases and Clinical Microbiology - Trabzon, Turkey.

Objective: We aimed to compare the clinical, epidemiological, and prognostic features of the H1N1 pandemic in 2009 and the severe acute respiratory syndrome coronavirus 2 pandemic in 2020.

Methods: This retrospective study involved subjects from seven centers that were admitted and found to be positive for H1N1 or COVID-19 real-time polymerase chain reaction test.

Results: A total of 143 patients with H1N1 and 309 patients with COVID-19 were involved in the study. Read More

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January 2021

The association between the histopathological features and microsatellite instability in young patients with urothelial carcinoma of the bladder.

Rev Assoc Med Bras (1992) 2021 Jan;67(1):64-70

Dokuz Eylul University, Faculty of Medicine, Department of Pathology - Izmir, Turkey.

Objective: Bladder cancer under the age of 40 is extremely rare. Bladder cancer development involves complex and multi-stage processes, one of which is the DNA damage repair mechanism. In this retrospective study, we aimed to evaluate the histopathological features of bladder urothelial carcinoma seen in patients under 40 years of age and tumor microsatellite instability status using immunohistochemistry. Read More

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January 2021

Inter-Patient Atrial Flutter Classification Using FFT-Based Features and a Low-Variance Stacking Classifier.

IEEE Trans Biomed Eng 2021 Jun 23;PP. Epub 2021 Jun 23.

Objective: Atrial Flutter (AFL) is a supraventricular tachyarrhythmia typically arising from a macroreentry circuit that can have variable atrial anatomy. It is often treated by catheter ablation, the success of which depends upon the correct determination of the electroanatomic circuit, generally through invasive electrophysiological (EP) study. We hypothesized that machine learning (ML) methods applied to the diagnostic 12-lead surface electrocardiogram (ECG) could determine the specific circuit prior to any invasive EP study. Read More

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Increased Posterior Tibial Slope Is Associated With Greater Risk of Graft Roof Impingement After Anatomic Anterior Cruciate Ligament Reconstruction.

Am J Sports Med 2021 Jun 23:3635465211018859. Epub 2021 Jun 23.

Sports Medicine Service, Beijing Jishuitan Hospital, Beijing, China.

Background: Increased posterior tibial slope (PTS) has been reported to be associated with irreducible anterior tibial subluxation in extension after anatomic anterior cruciate ligament (ACL) reconstruction (ACLR), which raises concerns about the greater risk of graft roof impingement (GRI) although the tibial tunnel is positioned anatomically.

Hypothesis: Increased PTS would be associated with greater risk of GRI after anatomic ACLR.

Study Design: Case-control study; Level of evidence, 3. Read More

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Machine Learning-Enabled Renal Cell Carcinoma Status Prediction Using Multiplatform Urine-Based Metabolomics.

J Proteome Res 2021 Jun 23. Epub 2021 Jun 23.

Department of Biochemistry and Molecular Biology, Complex Carbohydrate Research Center, University of Georgia, Athens, Georgia 30602, United States.

Renal cell carcinoma (RCC) is diagnosed through expensive cross-sectional imaging, frequently followed by renal mass biopsy, which is not only invasive but also prone to sampling errors. Hence, there is a critical need for a noninvasive diagnostic assay. RCC exhibits altered cellular metabolism combined with the close proximity of the tumor(s) to the urine in the kidney, suggesting that urine metabolomic profiling is an excellent choice for assay development. Read More

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[Renal toxicity of antineoplasic agents].

Rev Prat 2021 Feb;71(2):193-197

"Service de néphrologie, dialyse et transplantation, hôpital Foch, Suresnes, France".

"Renal toxicity of antineoplasic agents Renal toxicity of antineoplasic agents is a common complication faced by oncologists and nephrologists whose incidence depends on therapeutic classes used and patient's comorbidities. Nephrotoxicity is variable, according to mecanisms, chronology and potential reversibility. Besides acute kidney injury and/or chronic kidney disease, clinical features include several urinary abnormalities (mainly proteinuria). Read More

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February 2021

Clinical Characteristics, Classification, and Management of Adult Nasopharyngolaryngeal Hemangioma.

Laryngoscope 2021 Jun 23. Epub 2021 Jun 23.

Department of Otolaryngology Head and Neck Surgery, Xiangya Hospital, Central South University, Changsha, People's Republic of China.

Objectives/hypothesis: To analyze the clinical features, classification, and treatment of adult nasopharyngolaryngeal hemangioma (ANPLH).

Study Design: Retrospective study.

Methods: From February 2009 to May 2020, 101 patients with ANPLH were reviewed and analyzed. Read More

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High Rates of Ultraviolet-Signature Mutations in Squamous Cell Carcinomas of the Parotid Gland and Prognostic Implications.

Head Neck Pathol 2021 Jun 23. Epub 2021 Jun 23.

Department of Pathology (Anatomic Pathology), The University of Chicago Medicine, Chicago, USA.

In the absence of clear pathologic differences, clinical history may differentiate potential primary parotid squamous cell carcinomas (SCC) from metastases. The presence of an ultraviolet (UV) signature can distinguish between tumors of cutaneous and non-cutaneous origin. This study aimed to investigate rates of UV signature mutations in squamous cell carcinomas of the parotid gland as well as differences in clinical features between tumors of cutaneous and non-cutaneous origin. Read More

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Osteochondritis dissecans of the talar dome in patients with tarsal coalition.

Skeletal Radiol 2021 Jun 23. Epub 2021 Jun 23.

Department of Radiology, UC San Diego Health, 200 W. Arbor Drive, #8226, San Diego, CA, 92103, USA.

Objective: Tarsal coalition is known to cause abnormal talocrural stress, hindfoot malalignment, and ankle sprains. These can all be associated with osteochondritis dissecans (OCD) of the talar dome. We present the first detailed description of a series of talar OCDs occurring in patients with tarsal coalition, with the goal of determining whether there is an increased prevalence of OCDs among patients with tarsal coalition. Read More

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Inoperable CASTLE of the thyroid gland treated with radical radiotherapy with complete remission.

Strahlenther Onkol 2021 Jun 23. Epub 2021 Jun 23.

Department of Oncology and Radiotherapy, Charles University in Prague, Faculty of Medicine and University Hospital in Pilsen, alej Svobody 80, 304 60, Pilsen, Czech Republic.

Carcinoma showing thymus-like elements (CASTLE) is an extremely rare malignant tumor of the thyroid gland and soft tissues of the neck with favorable prognosis. Histological features of the CASTLE are similar to thymic carcinoma, and it is assumed that it arises from the ectopic thymic tissue or the remnants of branchial pouches. The optimal treatment strategy is still uncertain because of the rarity of the tumor. Read More

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Predicting Malignancy with Pediatric Thyroid Nodules: Early Experience in Machine Learning for Clinical Decision Support.

J Clin Endocrinol Metab 2021 Jun 23. Epub 2021 Jun 23.

Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, Ontario, Canada.

Background: Papillary thyroid carcinoma is the most common endocrine malignancy. Since most nodules are benign, the challenge for the clinician is to identify those most likely to harbour malignancy while limiting exposure to surgical risks among those with benign nodules.

Methods: Random Forests (augmented to select features based on our clinical measure of interest), in conjunction with interpretable rule sets, were used on demographic, ultrasound and biopsy data of thyroid nodules from children <18 years at a tertiary pediatric hospital. Read More

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Evaluation and Comparison of Clinical and Laboratory Characterstics of Patients With IgA Epidermolysis Bullosa Acquisita, Linear IgA Bullous Dermatosis, and IgG Epidermolysis Bullosa Acquisita.

JAMA Dermatol 2021 Jun 23. Epub 2021 Jun 23.

Department of Dermatology, Allergy, and Venereology, University of Lübeck, Lübeck, Germany.

Importance: Immunoglobulin A (IgA) epidermolysis bullosa acquisita (EBA) is an autoimmune skin blistering disease with IgA autoantibodies directed against type VII collagen. There is debate whether it should be considered part of the clinical spectrum of linear IgA bullous dermatosis (LABD) or a separate disease entity.

Objective: This cohort study aimed to define the clinical features and treatment responses of IgA EBA and anti-BP180-driven LABD, and to compare the prevalences of IgA EBA anti-BP180 LABD and classic IgG-mediated EBA in an autoimmune diagnostic laboratory database. Read More

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Favorable response to second-line atezolizumab and bevacizumab following progression on nivolumab in advanced hepatocellular carcinoma: A case report demonstrating that anti-VEGF therapy overcomes resistance to checkpoint inhibition.

Medicine (Baltimore) 2021 Jun;100(25):e26471

Division of Hematology and Medical Oncology.

Rationale: Advanced hepatocellular carcinoma (HCC) remains a deadly disease in part due to decades of limited therapeutic options. With recent advances in our understanding of the tumor biology, several promising treatment strategies involving targeted and immunotherapies have emerged. However, enhancing their modest efficacy in HCC and other gastrointestinal malignancies is essential to improving survival. Read More

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Acute hemorrhagic necrotizing enterocolitis caused by non-O1/non-O139 Vibrio cholerae infection: A case report.

Medicine (Baltimore) 2021 Jun;100(25):e26460

Department of General Surgery, Sir Run Run Shaw Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang province, China.

Rationale: Acute hemorrhagic necrotizing enterocolitis (AHNE) is a rapidly progressive and extremely dangerous disease. Here we report a rare case caused by Vibrio cholerae (V cholerae).

Patient Concerns: A 70-year-old man was admitted to our emergency department because of a sudden loss of consciousness. Read More

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Diagnostic yields and clinical features of ocular myasthenia gravis.

Medicine (Baltimore) 2021 Jun;100(25):e26457

Department of Ophthalmology, Samsung Changwon Hospital, Sungkyunkwan University School of Medicine, Changwon, Korea.

Abstract: To investigate clinical features and diagnosis process of ocular myasthenia gravis (OMG) in ophthalmology department.A total of 36 patients with ptosis or diplopia who had follow-up for at least 3 months between March 2016 and December 2019 were included in this study. Clinical symptoms of patients and the test results were analyzed. Read More

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Successful use of trametinib and dasatinib combined with chemotherapy in the treatment of Ph-positive B-cell acute lymphoblastic leukemia: A case report.

Medicine (Baltimore) 2021 Jun;100(25):e26440

Ningbo Women and Children's Hospital, Ningbo.

Rationale: Relapsed or refractory acute lymphoblastic leukemia poses a significant clinical challenge due to its poor prognosis, showing survival rates of less than a year even with the use of novel therapies. In this report, we describe the safe and effective use of trametinib combined with dasatinib in a patient with acute lymphoblastic leukemia (ALL). To the best of our knowledge, this is the first report on the successful use of 2 targeted drugs such as trametinib and dasatinib in a pediatric patient with Ph+ ALL and recurrent pancreatitis. Read More

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Pyloric gland adenoma with low-grade intraepithelial neoplasia: A case report and literature review.

Medicine (Baltimore) 2021 Jun;100(25):e26378

Department of Gastroenterology.

Rationale: Pyloric gland adenoma (PGA) is often associated with pyloric gland metaplasia. It has high malignant potential but a low clinical diagnosis rate. Therefore, we reported a case of PGA and reviewed the literature to summarize the clinicopathological features of pyloric adenoma. Read More

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Jejunal Dieulafoy lesion with intraintestinal calcification on computerized tomography: A case report.

Medicine (Baltimore) 2021 Jun;100(25):e26229

Department of Gastrointestinal Medicine, The First Affiliated Hospital of Zhejiang Chinese Medical University, Hangzhou, China.

Rationale: A Dieulafoy lesion is a rare cause of gastrointestinal (GI) bleeding, especially in the jejunum, and the presence of calcifications on CT might be suspicious of the diagnosis.

Patient Concerns: We describe a 72-year-old woman with anemia and melena. Hemoglobin was 6. Read More

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Treatment of Aortoiliac Occlusive Disease With the Covered Endovascular Reconstruction of the Aortic Bifurcation (CERAB) Technique: Results of a UK Multicenter Study.

J Endovasc Ther 2021 Jun 23:15266028211025028. Epub 2021 Jun 23.

Department of Vascular Surgery, Guy's and St Thomas' Hospital NHS Foundation Trust, London, UK.

Objective: This UK multicenter study aims to report early- and medium-term results following covered endovascular reconstruction of aortic bifurcation (CERAB) for the treatment of aortoiliac occlusive disease (AIOD) in patients with chronic limb threatening ischemia (CLTI) or intermittent claudication (IC).

Materials And Methods: Retrospective case analysis was performed of patients who underwent CERAB between November 1, 2012 and March 31, 2020 in 6 centers across the United Kingdom. Anatomical data, including degree of plaque calcification, were assessed using preoperative imaging. Read More

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