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Tytuł:
Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in DYNC2H1 Gene-Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skeletal Dysplasias.
Autorzy:
Stembalska A; Department of Genetics, Medical University, Marcinkowskiego 1, 50-368 Wroclaw, Poland.
Rydzanicz M; Department of Medical Genetics, Medical University of Warsaw, Adolfa Pawińskiego 3c, 02-106 Warsaw, Poland.
Klaniewska M; Department of Family and Pediatric Nursing, Medical University, Bartla 5, 51-618 Wroclaw, Poland.
Dudarewicz L; Department of Genetics, Polish Mother's Memorial Hospital-Research Institute, Rzgowska 281/289, 93-338 Lodz, Poland.
Pollak A; Department of Medical Genetics, Medical University of Warsaw, Adolfa Pawińskiego 3c, 02-106 Warsaw, Poland.
Biela M; Department of Family and Pediatric Nursing, Medical University, Bartla 5, 51-618 Wroclaw, Poland.
Stawinski P; Department of Medical Genetics, Medical University of Warsaw, Adolfa Pawińskiego 3c, 02-106 Warsaw, Poland.
Ploski R; Department of Medical Genetics, Medical University of Warsaw, Adolfa Pawińskiego 3c, 02-106 Warsaw, Poland.
Smigiel R; Department of Family and Pediatric Nursing, Medical University, Bartla 5, 51-618 Wroclaw, Poland.
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Źródło:
Genes [Genes (Basel)] 2022 Jul 27; Vol. 13 (8). Date of Electronic Publication: 2022 Jul 27.
Typ publikacji:
Case Reports; Research Support, Non-U.S. Gov't
MeSH Terms:
Cytoplasmic Dyneins*/genetics
Prenatal Diagnosis*
Diagnosis, Differential ; Ellis-Van Creveld Syndrome ; Female ; Humans ; Mutation ; Pregnancy ; Whole Exome Sequencing
SCR Disease Name:
Jeune syndrome
Raport
Tytuł:
BRCA1/2 pathogenetic variant carriers and reproductive decisions: Gender differences and factors associated with the choice of preimplantation genetic diagnosis (PGD) and prenatal diagnosis (PND).
Autorzy:
Lombardi L; Department of Psychological, Health and Territorial Sciences, University 'G. d'Annunzio' of Chieti-Pescara, Via Dei Vestini, 66100, Chieti, Italy. .
Trumello C; Department of Psychological, Health and Territorial Sciences, University 'G. d'Annunzio' of Chieti-Pescara, Via Dei Vestini, 66100, Chieti, Italy.
Stuppia L; Department of Psychological, Health and Territorial Sciences, University 'G. d'Annunzio' of Chieti-Pescara, Via Dei Vestini, 66100, Chieti, Italy.; Center for Advanced Studies and Technology-CAST, University 'G. d'Annunzio' of Chieti-Pescara, Chieti, Italy.
Antonucci I; Department of Psychological, Health and Territorial Sciences, University 'G. d'Annunzio' of Chieti-Pescara, Via Dei Vestini, 66100, Chieti, Italy.; Center for Advanced Studies and Technology-CAST, University 'G. d'Annunzio' of Chieti-Pescara, Chieti, Italy.
Brandão T; CIP, Department of Psychology, Universidade Autónoma de Lisboa 'Luís De Camões, Lisbon, Portugal.; CPUP, Center for Psychology, University of Porto, Porto, Portugal.
Babore A; Department of Psychological, Health and Territorial Sciences, University 'G. d'Annunzio' of Chieti-Pescara, Via Dei Vestini, 66100, Chieti, Italy.
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Źródło:
Journal of assisted reproduction and genetics [J Assist Reprod Genet] 2022 Jul; Vol. 39 (7), pp. 1433-1443. Date of Electronic Publication: 2022 Jun 04.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Preimplantation Diagnosis*
BRCA1 Protein/genetics ; Child ; Female ; Genetic Testing ; Humans ; Male ; Mutation/genetics ; Pregnancy ; Prenatal Diagnosis ; Sex Factors
Czasopismo naukowe
Tytuł:
Differentiation of intestinal tuberculosis and Crohn's disease through an explainable machine learning method.
Autorzy:
Weng F; School of Medicine, Xiamen University, Xiamen, 361005, Fujian, China.; National Institute for Data Science in Health and Medicine, Xiamen University, Xiamen, 361005, Fujian, China.; Data Mining Research Center, Xiamen University, Xiamen, 361005, Fujian, China.
Meng Y; Department of Gastroenterology and Hepatology, Shenzhen University General Hospital, Shenzhen, 518055, China.; Shenzhen University Clinical Medical Academy, Shenzhen University, Shenzhen, 518037, China.
Lu F; The Gastroenterology Department of Second Xiangya Hospital, Central South University, Changsha, 410011, China.
Wang Y; Data Mining Research Center, Xiamen University, Xiamen, 361005, Fujian, China.; School of Management, Xiamen University, Xiamen, 361005, Futian, China.
Wang W; School of Medicine, Xiamen University, Xiamen, 361005, Fujian, China.; National Institute for Data Science in Health and Medicine, Xiamen University, Xiamen, 361005, Fujian, China.; Data Mining Research Center, Xiamen University, Xiamen, 361005, Fujian, China.
Xu L; Department of Gastroenterology and Hepatology, Shenzhen University General Hospital, Shenzhen, 518055, China.; Shenzhen University Clinical Medical Academy, Shenzhen University, Shenzhen, 518037, China.
Cheng D; School of Software Engineering, Shenzhen Institute of Information Technology, Shenzhen, 518172, China.
Zhu J; National Institute for Data Science in Health and Medicine, Xiamen University, Xiamen, 361005, Fujian, China. .; Data Mining Research Center, Xiamen University, Xiamen, 361005, Fujian, China. .; School of Management, Xiamen University, Xiamen, 361005, Futian, China. .
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Źródło:
Scientific reports [Sci Rep] 2022 Feb 02; Vol. 12 (1), pp. 1714. Date of Electronic Publication: 2022 Feb 02.
Typ publikacji:
Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Decision Support Techniques*
Diagnosis, Computer-Assisted*
Machine Learning*
Crohn Disease/*diagnosis
Tuberculosis, Gastrointestinal/*diagnosis
Adult ; Crohn Disease/therapy ; Diagnosis, Differential ; Female ; Humans ; Male ; Middle Aged ; Predictive Value of Tests ; Tuberculosis, Gastrointestinal/microbiology ; Tuberculosis, Gastrointestinal/therapy ; Young Adult
Czasopismo naukowe
Tytuł:
Purely cystic meningioma: Case report and systematic review of the literature.
Autorzy:
Gkasdaris G; Department of Neurosurgical Oncology and Vascular Neurosurgery, Pierre Wertheimer Neurological and Neurosurgical Hospital, Hospices Civils de Lyon, Lyon, France. Electronic address: .
Vasiljevic A; Pathology Department, 'Groupement Hospitalier Est' Hospices Civils de Lyon, 69677 Bron, France.
Cartalat S; Department of Neuro-Oncology, Pierre Wertheimer Neurological and Neurosurgical Hospital, Hospices Civils de Lyon, Lyon, France.
Pelissou-Guyotat I; Department of Neurosurgical Oncology and Vascular Neurosurgery, Pierre Wertheimer Neurological and Neurosurgical Hospital, Hospices Civils de Lyon, Lyon, France.
Guyotat J; Department of Neurosurgical Oncology and Vascular Neurosurgery, Pierre Wertheimer Neurological and Neurosurgical Hospital, Hospices Civils de Lyon, Lyon, France.
Dumot C; Department of Neurosurgical Oncology and Vascular Neurosurgery, Pierre Wertheimer Neurological and Neurosurgical Hospital, Hospices Civils de Lyon, Lyon, France.
Picart T; Department of Neurosurgical Oncology and Vascular Neurosurgery, Pierre Wertheimer Neurological and Neurosurgical Hospital, Hospices Civils de Lyon, Lyon, France.
Berhouma M; Department of Neurosurgical Oncology and Vascular Neurosurgery, Pierre Wertheimer Neurological and Neurosurgical Hospital, Hospices Civils de Lyon, Lyon, France.
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Źródło:
Clinical neurology and neurosurgery [Clin Neurol Neurosurg] 2022 Dec; Vol. 223, pp. 107498. Date of Electronic Publication: 2022 Oct 28.
Typ publikacji:
Systematic Review; Case Reports; Journal Article; Review
MeSH Terms:
Meningioma*/diagnostic imaging
Meningioma*/surgery
Meningeal Neoplasms*/diagnostic imaging
Meningeal Neoplasms*/surgery
Hemangioblastoma*/diagnosis
Glioma*/diagnosis
Female ; Humans ; Middle Aged ; Diagnosis, Differential ; Headache/diagnosis ; Magnetic Resonance Imaging
Czasopismo naukowe
Tytuł:
Early diagnosis of Alzheimer's disease and mild cognitive impairment based on electroencephalography: From the perspective of event related potentials and deep learning.
Autorzy:
Wang C; The Second School of Clinical Medicine, Zhejiang Chinese Medical University, Hangzhou, China.
Xu T; The Second School of Clinical Medicine, Zhejiang Chinese Medical University, Hangzhou, China.
Yu W; Department of Psychiatry, Zhejiang Provincial People's Hospital, Hangzhou, China.
Li T; The Second School of Clinical Medicine, Zhejiang Chinese Medical University, Hangzhou, China.
Han H; The First School of Clinical Medicine, Zhejiang Chinese Medical University, Hangzhou, China.
Zhang M; The First School of Clinical Medicine, Zhejiang Chinese Medical University, Hangzhou, China.
Tao M; The Second School of Clinical Medicine, Zhejiang Chinese Medical University, Hangzhou, China. Electronic address: .
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Źródło:
International journal of psychophysiology : official journal of the International Organization of Psychophysiology [Int J Psychophysiol] 2022 Dec; Vol. 182, pp. 182-189. Date of Electronic Publication: 2022 Oct 27.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Alzheimer Disease*/diagnosis
Deep Learning*
Cognitive Dysfunction*/diagnosis
Humans ; Aged ; Evoked Potentials/physiology ; Electroencephalography/methods ; Early Diagnosis
Czasopismo naukowe
Tytuł:
On epilepsy perception: Unravelling gaps and issues.
Autorzy:
Falcicchio G; Department of Basic Medical Sciences, Neurosciences and Sense Organs, University of Bari, Bari, Italy. Electronic address: .
Negri F; Department of Basic Medical Sciences, Neurosciences and Sense Organs, University of Bari, Bari, Italy.
Trojano M; Department of Basic Medical Sciences, Neurosciences and Sense Organs, University of Bari, Bari, Italy.
La Neve A; Department of Basic Medical Sciences, Neurosciences and Sense Organs, University of Bari, Bari, Italy.
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Źródło:
Epilepsy & behavior : E&B [Epilepsy Behav] 2022 Dec; Vol. 137 (Pt A), pp. 108952. Date of Electronic Publication: 2022 Oct 25.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Epilepsy*/diagnosis
Epilepsy, Generalized*
Humans ; Delayed Diagnosis ; Seizures/diagnosis ; Perception
Czasopismo naukowe
Tytuł:
New candidates in the differential diagnosis of malignant mesothelioma from benign mesothelial hyperplasia and adenocarcinoma; DARS2 and suprabasin.
Autorzy:
Ucer O; Department of Pathology, Firat University School of Medicine, Elazig, Turkey.
Kocaman N; Department of Histology and Embryology, Firat University School of Medicine, Elazig, Turkey. Electronic address: .
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Źródło:
Tissue & cell [Tissue Cell] 2022 Dec; Vol. 79, pp. 101920. Date of Electronic Publication: 2022 Sep 06.
Typ publikacji:
Journal Article
MeSH Terms:
Adenocarcinoma*/diagnosis
Adenocarcinoma*/pathology
Adenocarcinoma of Lung*/diagnosis
Aspartate-tRNA Ligase*
Lung Neoplasms*/diagnosis
Mesothelioma*/diagnosis
Mesothelioma*/metabolism
Mesothelioma*/pathology
Mesothelioma, Malignant*
Humans ; Biomarkers ; Diagnosis, Differential ; Hyperplasia/diagnosis ; Immunohistochemistry
Czasopismo naukowe
Tytuł:
Blastomycosis-like pyoderma: A pitfall for the misdiagnosis of squamous cell carcinoma.
Autorzy:
Ilagan FMD; Department of Dermatology, Mackay Memorial Hospital, Taipei, Taiwan.
Wu YH; Department of Dermatology, Mackay Memorial Hospital, Taipei, Taiwan.; Department of Medicine, MacKay Medical College, New Taipei City, Taiwan.
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Źródło:
Journal of cutaneous pathology [J Cutan Pathol] 2022 Dec; Vol. 49 (12), pp. 1035-1039. Date of Electronic Publication: 2022 Aug 23.
Typ publikacji:
Review; Case Reports
MeSH Terms:
Blastomycosis*/diagnosis
Diabetes Mellitus, Type 2*
Pyoderma*/diagnosis
Pyoderma*/pathology
Carcinoma, Squamous Cell*/diagnosis
Carcinoma, Squamous Cell*/pathology
Skin Diseases*/diagnosis
Male ; Humans ; Middle Aged ; Hyperplasia ; Abscess/diagnosis ; Diagnostic Errors ; Diagnosis, Differential
Recenzja
Tytuł:
Rare cause of ascites and pleural effusion: The first case report and literature review of pseudo-pseudo Meig's syndrome in Taiwan.
Autorzy:
Chao YH; Department of Surgery, Kaohsiung Veteran General Hospital, No. 386, Dazhong 1st Road, Zuoying District, Kaohsiung City 813, Kaohsiung, Taiwan. Electronic address: .
Chen HY; Division of Nephrology, Department of Internal Medicine, Kaohsiung Veteran General Hospital, Kaohsiung, Taiwan. Electronic address: .
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Źródło:
Journal of the Formosan Medical Association = Taiwan yi zhi [J Formos Med Assoc] 2022 Dec; Vol. 121 (12), pp. 2633-2638. Date of Electronic Publication: 2022 Apr 19.
Typ publikacji:
Review; Case Reports
MeSH Terms:
Meigs Syndrome*/diagnosis
Pelvic Neoplasms*
Pleural Effusion*/diagnosis
Pleural Effusion*/etiology
Lupus Erythematosus, Systemic*/complications
Lupus Erythematosus, Systemic*/diagnosis
Lupus Erythematosus, Systemic*/drug therapy
Aged ; Humans ; Female ; Aged, 80 and over ; Ascites/diagnosis ; Ascites/etiology ; Taiwan ; Diagnosis, Differential
Recenzja
Tytuł:
Cardiogenic shock due to a spontaneously ruptured pheochromocytoma: a rare but life-threatening event-a case report.
Autorzy:
Weber AL; Department of Gastroenterology, Hepatology and Endocrinology, Hannover Medical School, Hannover, Germany. .
Pfeffer TJ; Department of Cardiology and Angiology, Hannover Medical School, Hannover, Germany.
Leitolf H; Department of Gastroenterology, Hepatology and Endocrinology, Hannover Medical School, Hannover, Germany.
Ringe B; Department of General, Visceral and Transplantation Surgery, Hannover Medical School, Hannover, Germany.
Wedemeyer H; Department of Gastroenterology, Hepatology and Endocrinology, Hannover Medical School, Hannover, Germany.
Bauersachs J; Department of Cardiology and Angiology, Hannover Medical School, Hannover, Germany.
Schäfer A; Department of Cardiology and Angiology, Hannover Medical School, Hannover, Germany.
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Źródło:
Clinical research in cardiology : official journal of the German Cardiac Society [Clin Res Cardiol] 2022 Dec; Vol. 111 (12), pp. 1401-1403. Date of Electronic Publication: 2022 Oct 10.
Typ publikacji:
Case Reports; Letter
MeSH Terms:
Pheochromocytoma*/complications
Pheochromocytoma*/diagnosis
Pheochromocytoma*/surgery
Adrenal Gland Neoplasms*/complications
Adrenal Gland Neoplasms*/diagnosis
Adrenal Gland Neoplasms*/surgery
Humans ; Shock, Cardiogenic/diagnosis ; Shock, Cardiogenic/etiology ; Diagnosis, Differential
Raport
Tytuł:
Differential diagnosis of Crohn's disease and intestinal tuberculosis: development and assessment of a nomogram prediction model.
Autorzy:
Zeng S; Department of Gastroenterology, The Third Affiliated Hospital of Sun Yat-Sen University, No. 600 Tianhe Road, 510630, Guangzhou, Guangdong Province, China.
Lin Y; Department of Gastroenterology, The Third Affiliated Hospital of Sun Yat-Sen University, No. 600 Tianhe Road, 510630, Guangzhou, Guangdong Province, China.
Guo J; Department of Gastroenterology, The Third Affiliated Hospital of Sun Yat-Sen University, No. 600 Tianhe Road, 510630, Guangzhou, Guangdong Province, China.
Chen X; Department of Radiology, The Third Affiliated Hospital of Sun Yat-Sen University, No. 600 Tianhe Road, 510630, Guangzhou, Guangdong Province, China.
Liang Q; Department of Pathology, The Third Affiliated Hospital of Sun Yat-Sen University, No. 600 Tianhe Road, 510630, Guangzhou, Guangdong Province, China.
Zhai X; Department of Gastroenterology, The Third Affiliated Hospital of Sun Yat-Sen University, No. 600 Tianhe Road, 510630, Guangzhou, Guangdong Province, China.
Tao J; Department of Gastroenterology, The Third Affiliated Hospital of Sun Yat-Sen University, No. 600 Tianhe Road, 510630, Guangzhou, Guangdong Province, China. .
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Źródło:
BMC gastroenterology [BMC Gastroenterol] 2022 Nov 16; Vol. 22 (1), pp. 461. Date of Electronic Publication: 2022 Nov 16.
Typ publikacji:
Journal Article
MeSH Terms:
Crohn Disease*/diagnosis
Tuberculosis, Gastrointestinal*/diagnosis
Peritonitis, Tuberculous*/diagnosis
Enteritis*/diagnosis
Humans ; Diagnosis, Differential ; Nomograms ; Retrospective Studies
Czasopismo naukowe
Tytuł:
Clinical characterizations of three adults with genetically confirmed spinal muscular atrophy: a case series.
Autorzy:
Setyaningrum CTS; Department of Neurology, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada, Yogyakarta, Indonesia. .
Harahap ISK; Department of Neurology, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada, Yogyakarta, Indonesia.
Nurputra DK; Department of Pediatrics, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada, Yogyakarta, Indonesia.
Ar Rochmah M; Department of Neurology, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada, Yogyakarta, Indonesia.
Sadewa AH; Department of Biochemistry, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada, Yogyakarta, Indonesia.
Alkarani GH; Department of Neurology, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada, Yogyakarta, Indonesia.
Harahap NIF; Department of Clinical Pathology, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada, Yogyakarta, Indonesia.
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Źródło:
Journal of medical case reports [J Med Case Rep] 2022 Nov 15; Vol. 16 (1), pp. 435. Date of Electronic Publication: 2022 Nov 15.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Muscular Atrophy, Spinal*/diagnosis
Muscular Atrophy, Spinal*/genetics
Spinal Muscular Atrophies of Childhood*/diagnosis
Spinal Muscular Atrophies of Childhood*/genetics
Male ; Adult ; Infant, Newborn ; Female ; Humans ; Child ; Adolescent ; Middle Aged ; Muscle Weakness/etiology ; Walking ; Diagnosis, Differential ; Disease Progression
Czasopismo naukowe
Tytuł:
Improving myelopathy diagnosis now and into the future.
Autorzy:
Cacciaguerra L; Department of Neurology, Mayo Clinic, Rochester, MN, USA.; Vita-Salute San Raffaele University, Milan, Italy.; Neuroimaging Research Unit, Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, Italy.
Flanagan EP; Department of Neurology, Mayo Clinic, Rochester, MN, USA.; Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.. Electronic address: .
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Źródło:
Journal of the neurological sciences [J Neurol Sci] 2022 Nov 15; Vol. 442, pp. 120424. Date of Electronic Publication: 2022 Oct 01.
Typ publikacji:
Editorial
MeSH Terms:
Spinal Cord Diseases*/diagnostic imaging
Myelitis, Transverse*/diagnosis
Myelitis*/diagnosis
Humans ; Diagnosis, Differential ; Spinal Cord ; Magnetic Resonance Imaging
Opinia redakcyjna
Tytuł:
The impact of the COVID-19 pandemic on patients' experiences obtaining a tuberculosis diagnosis in Peru: a mixed-methods study.
Autorzy:
Millones AK; Socios En Salud Sucursal Peru, Lima, Peru.
Lecca L; Socios En Salud Sucursal Peru, Lima, Peru.; Department of Global Health and Social Medicine, Harvard Medical School, Boston, MA, USA.
Acosta D; Socios En Salud Sucursal Peru, Lima, Peru.
Campos H; Socios En Salud Sucursal Peru, Lima, Peru.
Del Águila-Rojas E; Socios En Salud Sucursal Peru, Lima, Peru.
Farroñay S; Socios En Salud Sucursal Peru, Lima, Peru.
Morales G; Socios En Salud Sucursal Peru, Lima, Peru.
Ramirez-Sandoval J; Socios En Salud Sucursal Peru, Lima, Peru.
Torres I; Socios En Salud Sucursal Peru, Lima, Peru.
Jimenez J; Socios En Salud Sucursal Peru, Lima, Peru.
Yuen CM; Department of Global Health and Social Medicine, Harvard Medical School, Boston, MA, USA. Courtney_.; Division of Global Health Equity, Brigham and Women's Hospital, Boston, MA, USA. Courtney_.
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Źródło:
BMC infectious diseases [BMC Infect Dis] 2022 Nov 09; Vol. 22 (1), pp. 829. Date of Electronic Publication: 2022 Nov 09.
Typ publikacji:
Journal Article
MeSH Terms:
COVID-19*/diagnosis
Tuberculosis*/diagnosis
Tuberculosis*/epidemiology
Tuberculosis*/therapy
Humans ; Delayed Diagnosis ; Pandemics ; Peru/epidemiology ; Cross-Sectional Studies
SCR Protocol:
COVID-19 drug treatment
Czasopismo naukowe
Tytuł:
Application of chromosome microarray analysis and karyotyping in diagnostic assessment of abnormal Down syndrome screening results.
Autorzy:
Kang H; Prenatal diagnosis department, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Wang L; Prenatal diagnosis department, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Li X; Prenatal diagnosis department, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Gao C; Prenatal diagnosis department, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Xie Y; Prenatal diagnosis department, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Hu Y; Prenatal diagnosis department, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China. .
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Źródło:
BMC pregnancy and childbirth [BMC Pregnancy Childbirth] 2022 Nov 04; Vol. 22 (1), pp. 813. Date of Electronic Publication: 2022 Nov 04.
Typ publikacji:
Journal Article
MeSH Terms:
Down Syndrome*/diagnosis
Down Syndrome*/genetics
Chromosome Disorders*/diagnosis
Female ; Pregnancy ; Humans ; Karyotyping ; Microarray Analysis ; Prenatal Diagnosis/methods ; Aneuploidy ; DNA Copy Number Variations ; Chromosomes
Czasopismo naukowe
Tytuł:
The importance of early diagnosis and views on newborn screening in metachromatic leukodystrophy: results of a Caregiver Survey in the UK and Republic of Ireland.
Autorzy:
Morton G; ArchAngel MLD Trust, 59 Warwick Square, London, SW1V 2AL, London, UK.
Thomas S; MPS Society, MPS House, Amersham, HP7 9LP, Amersham, UK.
Roberts P; ArchAngel MLD Trust, 59 Warwick Square, London, SW1V 2AL, London, UK.
Clark V; MLD Support Association UK, Floor 5, Amphenol Business Complex, Thanet way, Whitstable, CT5 3SB, Whitstable, UK.
Imrie J; MLD Support Association UK, Floor 5, Amphenol Business Complex, Thanet way, Whitstable, CT5 3SB, Whitstable, UK.
Morrison A; Rare Disease Research Partners (RDRP), MPS House, Amersham, HP7 9LP, Amersham, UK. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Nov 03; Vol. 17 (1), pp. 403. Date of Electronic Publication: 2022 Nov 03.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Leukodystrophy, Metachromatic*/diagnosis
Leukodystrophy, Metachromatic*/genetics
Child ; Infant, Newborn ; Humans ; Adolescent ; Adult ; Caregivers ; Neonatal Screening ; Ireland ; Delayed Diagnosis ; Early Diagnosis ; United Kingdom
Czasopismo naukowe
Tytuł:
Utility of serum lactate on differential diagnosis of seizure-like activity: A systematic review and meta-analysis.
Autorzy:
Patel J; Department of Emergency Medicine, George Washington University School of Medicine and Health Sciences, Washington DC, United States.
Tran QK; Department of Emergency Medicine, University of Maryland School of Medicine, Baltimore, MD, United States of America; Program in Trauma, The R Adams Cowley Shock Trauma Center, University of Maryland School of Medicine, Baltimore, MD, United States.
Martinez S; Department of Emergency Medicine, George Washington University School of Medicine and Health Sciences, Washington DC, United States.
Wright H; Department of Emergency Medicine, George Washington University School of Medicine and Health Sciences, Washington DC, United States.
Pourmand A; Department of Emergency Medicine, George Washington University School of Medicine and Health Sciences, Washington DC, United States. Electronic address: .
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Źródło:
Seizure [Seizure] 2022 Nov; Vol. 102, pp. 134-142. Date of Electronic Publication: 2022 Oct 07.
Typ publikacji:
Meta-Analysis; Systematic Review; Journal Article; Review
MeSH Terms:
Seizures*/diagnosis
Epilepsy*/diagnosis
Adult ; Humans ; Diagnosis, Differential ; Retrospective Studies ; Prospective Studies ; Electroencephalography/methods ; Syncope ; Unconsciousness/diagnosis ; Lactic Acid
Czasopismo naukowe
Tytuł:
Clinicopathologic features of pregnancy luteoma.
Autorzy:
Wang L; Department of Pathology, Jinhu County People's Hospital, Huaian City, China.
Zhou C; Department of Pathology, Jinhu County People's Hospital, Huaian City, China.
Jiang J; Department of Pathology, Jinhu County People's Hospital, Huaian City, China.
Zhang Z; Department of Pathology, Subei People's Hospital, Yangzhou City, China.
Li X; Department of Pathology, First People's Hospital of Zigong City, Zigong, China.
Zhang W; Department of Pathology, Suining People's Hospital, Suining City, China.
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Źródło:
International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics [Int J Gynaecol Obstet] 2022 Nov; Vol. 159 (2), pp. 351-356. Date of Electronic Publication: 2022 Mar 14.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Luteoma*/diagnosis
Luteoma*/pathology
Ovarian Neoplasms*/diagnosis
Ovarian Neoplasms*/pathology
Biomarkers, Tumor/analysis ; Diagnosis, Differential ; Female ; Humans ; MART-1 Antigen ; Mucin-1 ; Pregnancy ; Reticulin ; Vimentin
Czasopismo naukowe
Tytuł:
Association Between Socioeconomic and Insurance Status and Delayed Diagnosis of Gastrointestinal Cancers.
Autorzy:
Kim G; Department of Surgery, Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, New York.
Qin J; Department of Epidemiology and Population Health, Albert Einstein College of Medicine, Bronx, New York.
Hall CB; Department of Epidemiology and Population Health, Albert Einstein College of Medicine, Bronx, New York.
In H; Department of Surgery, Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, New York; Department of Epidemiology and Population Health, Albert Einstein College of Medicine, Bronx, New York; Rutgers Cancer Institute of New Jersey, New Brunswick, New Jersey. Electronic address: .
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Źródło:
The Journal of surgical research [J Surg Res] 2022 Nov; Vol. 279, pp. 170-186. Date of Electronic Publication: 2022 Jun 29.
Typ publikacji:
Journal Article
MeSH Terms:
Gastrointestinal Neoplasms*/diagnosis
Gastrointestinal Neoplasms*/epidemiology
Rectal Neoplasms*
Adult ; Aged ; Delayed Diagnosis ; Humans ; Insurance Coverage ; Medicare ; Social Class ; Socioeconomic Factors ; United States/epidemiology
Czasopismo naukowe
Tytuł:
The role of reflectance confocal microscopy in the diagnosis of eccrine poroma: A retrospective case-control study.
Autorzy:
Di Tullio F; Dermatology Unit, Surgical, Medical and Dental Department of Morphological Sciences related to Transplant, Oncology and Regenerative Medicine, University of Modena and Reggio Emilia, Modena, Italy.
Mandel VD; Porphyria and Rare Diseases Unit, San Gallicano Dermatological Institute - IRCCS, Rome, Italy.
Ignazio S; Skin Cancer Unit, Istituto Romagnolo per lo Studio dei Tumori 'Dino Amadori' - IRST S.r.l. - IRCCS, Meldola, Italy.; Medicine and Surgery Department, University of Parma, Parma, Italy.
Cinotti E; Department of Medical, Surgical and Neurological Science, Dermatology Section, University of Siena, Siena, Italy.
Kaleci S; Dermatology Unit, Surgical, Medical and Dental Department of Morphological Sciences related to Transplant, Oncology and Regenerative Medicine, University of Modena and Reggio Emilia, Modena, Italy.
Ciardo S; Dermatology Unit, Surgical, Medical and Dental Department of Morphological Sciences related to Transplant, Oncology and Regenerative Medicine, University of Modena and Reggio Emilia, Modena, Italy.
Peccerillo F; Dermatology Unit, Surgical, Medical and Dental Department of Morphological Sciences related to Transplant, Oncology and Regenerative Medicine, University of Modena and Reggio Emilia, Modena, Italy.
Longo C; Dermatology Unit, Surgical, Medical and Dental Department of Morphological Sciences related to Transplant, Oncology and Regenerative Medicine, University of Modena and Reggio Emilia, Modena, Italy.; Centro Oncologico ad Alta Tecnologia Diagnostica, Azienda Unità Sanitaria Locale - IRCCS, Reggio Emilia, Italy.
Farnetani F; Dermatology Unit, Surgical, Medical and Dental Department of Morphological Sciences related to Transplant, Oncology and Regenerative Medicine, University of Modena and Reggio Emilia, Modena, Italy.
Pellacani G; Dermatology Unit, Surgical, Medical and Dental Department of Morphological Sciences related to Transplant, Oncology and Regenerative Medicine, University of Modena and Reggio Emilia, Modena, Italy.; Dermatologic Unit, Department of Clinical Internal, Anesthesiological and Cardiovascular Sciences, La Sapienza University of Rome, Rome, Italy.
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Źródło:
Experimental dermatology [Exp Dermatol] 2022 Nov; Vol. 31 (11), pp. 1779-1790. Date of Electronic Publication: 2022 Aug 19.
Typ publikacji:
Observational Study; Journal Article
MeSH Terms:
Poroma*/diagnosis
Melanoma*/pathology
Skin Neoplasms*/pathology
Sweat Gland Neoplasms*/diagnosis
Humans ; Dermoscopy/methods ; Retrospective Studies ; Case-Control Studies ; Microscopy, Confocal/methods ; Diagnosis, Differential
Czasopismo naukowe

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