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https://www.readbyqxmd.com/read/28437855/mild-fetal-cerebral-ventriculomegaly-prevalence-characteristics-and-utility-of-ancillary-testing-in-cases-presenting-to-a-tertiary-referral-center
#1
Alison J Mehlhorn, Cara E Morin, Jade J Wong-You-Cheong, Stephen A Contag
OBJECTIVE: Ventriculomegaly is the most common fetal brain anomaly identified during prenatal anatomy ultrasound. The aim of our study was to characterize cases of mild ventriculomegaly and investigate the utility of ancillary tests. METHOD: We reviewed 121 cases of mild ventriculomegaly, defined as lateral ventricle diameter of 10-15 mm. Characteristics of the ventricular dilation as well as each pregnancy were investigated. Ancillary tests performed included follow-up MRI, chromosomal abnormality testing, and maternal serologic infection screening...
April 24, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28437820/-therapy-of-hemifacial-spasm-with-botulinum-toxin
#2
Wolfgang H Jost, Rainer Laskawi, Anja Palmowski-Wolfe, Peter P Urban
Hemifacial spasm (HFS) is a frequent disorder characterized by involuntary contractions of those muscles innervated by the facialis nerve on one side of the face. The symptoms can appear as tonic or clonic, intermittent or permanent. Diagnosis is based purely on clinical observation. Differential diagnosis should rely on cranial MRI, which can demonstrate a pathological contact between the nerves and vessels and exclude alternative causation. Often, the symptoms are not marked so that therapy may not be necessary...
April 2017: Fortschritte der Neurologie-Psychiatrie
https://www.readbyqxmd.com/read/28437813/presenting-symptoms-of-pituitary-apoplexy
#3
Efstratios-Stylianos Pyrgelis, Ioannis Mavridis, Maria Meliou
The classical term "pituitary apoplexy" (PA) describes a clinical syndrome usually characterized by abrupt onset of headache accompanied by neurologic and/or endocrinologic deterioration due to sudden expansion of a mass within the sella turcica as a result of hemorrhage or infarction within a pituitary tumor and adjacent pituitary gland. PA is a medical emergency and a difficult diagnosis to establish. Thus this article reviews the presenting symptoms of PA patients to help clinicians recognize or at least suspect this critical condition early on...
April 24, 2017: Journal of Neurological Surgery. Part A, Central European Neurosurgery
https://www.readbyqxmd.com/read/28437794/hepatitis-b-virus-reactivation-associated-with-direct-acting-antiviral-therapy-for-chronic-hepatitis-c-virus-a-review-of-cases-reported-to-the-u-s-food-and-drug-administration-adverse-event-reporting-system
#4
Susan J Bersoff-Matcha, Kelly Cao, Mihaela Jason, Adebola Ajao, S Christopher Jones, Tamra Meyer, Allen Brinker
Background: Direct-acting antiviral agents (DAAs) are used increasingly to treat hepatitis C virus (HCV) infection. Reports were published recently on hepatitis B virus (HBV) reactivation (HBV-R) in patients with HBV-HCV co-infection. Hepatitis B virus reactivation, defined as an abrupt increase in HBV replication in patients with inactive or resolved HBV infection, may result in clinically significant hepatitis. Objective: To assess whether HBV-R is a safety concern in patients receiving HCV DAAs...
April 25, 2017: Annals of Internal Medicine
https://www.readbyqxmd.com/read/28437788/high-prevalence-of-polycystic-ovary-syndrome-in-type-1-diabetes-mellitus-adolescents-is-there-a-difference-depending-on-the-nih-and-rotterdam-criteria
#5
Kanetee Busiah, Ana Colmenares, Maud Bidet, Nadia Tubiana-Rufi, Claire Levy-Marchal, Christine Delcroix, Paul Jacquin, Delphine Martin, Lila Benadjaoud, Evelyne Jacqz-Aigrain, Kathleen Laborde, Jean-Jacques Robert, Dinane Samara-Boustani, Michel Polak
BACKGROUND: Polycystic ovary syndrome (PCOS) is more frequently observed in type 1 diabetes mellitus (T1DM) adult women than in nondiabetic women. No such prevalence has yet been studied in adolescent girls with T1DM. AIM: The aim of this study was to evaluate the prevalence of PCOS in adolescent girls with T1DM and to determine the clinical and hormonal features associated with the disorder. METHODS: A cross-sectional study of 53 adolescent girls (gynecological age >2 years) referred for routine evaluation for T1DM was conducted...
April 24, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28437783/evacuation-of-a-tertiary-neonatal-centre-lessons-from-the-2016-kumamoto-earthquakes
#6
Osuke Iwata, Akihiko Kawase, Masanori Iwai, Kazuko Wada
BACKGROUND: Newborn infants hospitalised in the neonatal intensive care unit (NICU) are vulnerable to natural disasters. However, publications on evacuation from NICUs are sparse. The 2016 Kumamoto Earthquakes caused serious damage to Kumamoto City Hospital and its level III regional core NICU. Local/neighbour NICU teams and the disaster-communication team of a neonatal academic society cooperated to evacuate 38 newborn infants from the ward. OBJECTIVE: The aim of this paper was to highlight potential key factors to improve emergency NICU evacuation and coordination of hospital transportation following natural disasters...
April 25, 2017: Neonatology
https://www.readbyqxmd.com/read/28437717/traumatic-axonal-injury-a-clinical-pathological-correlation
#7
N Davceva, A Sivevski
Traumatic axonal injury (TAI) is a distinct clinicopathological entity that can cause serious impairment of the brain function and can sometimes be found as a concrete cause of death. It has been discussed from the perspective of its biomechanical importance, and also from the standpoint of certain criteria for the pathological diagnosis of TAI. However, since the time when DAI (diffuse axonal injury) was initially described, there have been few, if any, discussions about the clinical-pathological correlation in TAI...
April 14, 2017: Journal of Forensic and Legal Medicine
https://www.readbyqxmd.com/read/28437579/mosaic-trisomy-1q-a-recurring-chromosome-anomaly-that-is-a-diagnostic-challenge-and-is-associated-with-a-fryns-like-phenotype
#8
Kathleen M Bone, Judy E Chernos, Renee Perrier, A Micheil Innes, Francois P Bernier, Ross McLeod, Mary Ann Thomas
OBJECTIVE: Trisomy of the long arm of chromosome 1 is a very rare cytogenetic anomaly that is difficult to diagnose due to tissue-limited mosaicism. This study aimed to further characterize the prenatal and postnatal findings associated with this anomaly, including the first reported chromosomal microarray finding. METHOD: This is a retrospective study of 6 cases of mos 46,X,der(Y)t(Y;1)(q12;q21)/46,XY diagnosed both pre- and postnatally. Detailed clinical features and pregnancy outcome were documented...
April 24, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28437538/effects-of-diagnosis-by-newborn-screening-for-cystic-fibrosis-on-weight-and-length-in-the-first-year-of-life
#9
Daniel H Leung, Sonya L Heltshe, Drucy Borowitz, Daniel Gelfond, Margaret Kloster, James E Heubi, Michael Stalvey, Bonnie W Ramsey
Importance: Since the implementation of universal newborn screening (NBS) for cystic fibrosis (CF), the timing and magnitude of growth deficiency or its association with correlates of disease among infants with CF who underwent NBS has not been well described. Objective: To examine incremental weight gain, linear growth, and clinical features in the first year of life among infants with CF who underwent NBS. Design, Setting, and Participants: The Baby Observational and Nutrition Study (BONUS), a multicenter, longitudinal, observational cohort study, was conducted during regular CF clinic visits in the first 12 months of life at 28 US Cystic Fibrosis Foundation-accredited Care Centers from January 7, 2012, through May 31, 2015...
April 24, 2017: JAMA Pediatrics
https://www.readbyqxmd.com/read/28437535/clinical-aspects-of-glucose-transporter-type-1-deficiency-information-from-a-global-registry
#10
Jian Hao, Dorothy I Kelly, Jianzhong Su, Juan M Pascual
Importance: Case reports regularly document unique or unusual aspects of glucose transporter type 1 deficiency (G1D). In contrast, population studies from which to draw global inferences are lacking. Twenty-five years after the earliest case reports, this deficiency still particularly affects treatment and prognostic counseling. Objective: To examine the most common features of G1D. Design, Setting, and Participants: In this study, data were collected electronically from 181 patients with G1D through a web-based, worldwide patient registry from December 1, 2013, through December 1, 2016...
April 24, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28437518/a-middle-aged-man-with-progressive-ophthalmoparesis-ataxia-and-spastic-paraparesis
#11
Nathan H Kung, Gregory P Van Stavern, Robert C Bucelli
A 50-year old man presented for evaluation of progressive gait ataxia with a superimposed spastic paraparesis. During his clinic visit, he was also observed to have slow and limited eye movements. In this article, we discuss the clinical approach to this triad of symptoms and guide the reader to discover the patient's ultimate genetic diagnosis.
April 24, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28437516/a-rare-case-of-misdiagnosed-silent-lung-cancer-with-solitary-metastasis-to-the-temporomandibular-joint-condyle
#12
Luca Guarda-Nardini, Edoardo Stellini, Adolfo Di Fiore, Daniele Manfredini
This article describes the case history of a 59-year-old female patient who sought advice for temporomandibular joint (TMJ) pain and sounds but who was actually diagnosed with a primary lung cancer with metastasis to the TMJ. The patient had a history of TMJ pain and deflection in jaw movement that progressively worsened over a few months and did not improve with the usual standard of care treatment provided by an orofacial pain practitioner. Magnetic resonance and computed tomography (CT) prescribed at a tertiary clinic showed an osteolytic bone mass within the right TMJ condyle...
April 2017: Journal of Oral & Facial Pain and Headache
https://www.readbyqxmd.com/read/28437514/a-retrospective-study-on-possible-predictive-factors-for-long-term-temporomandibular-joint-degeneration-and-impaired-mobility-in-juvenile-arthritis-patients
#13
Stanimira I Kalaykova, Adriaan T Klitsie, Corine M Visscher, Machiel Naeije, Frank Lobbezoo
AIMS: To determine possible predictive factors for long-term temporomandibular joint (TMJ) degeneration and dysfunction in juvenile idiopathic arthritis (JIA) patients. METHODS: A total of 94 patients (77% female) who had received a JIA diagnosis in an outpatient rheumatology clinic from 1993 to 1994 at a mean ± standard deviation age of 8.3 ± 4.53 years were included in the study. At inclusion, TMJ status regarding condylar degeneration was assessed orthopantomographically and given a Rohlin and Petersson score of 0 or ≥ 1...
April 2017: Journal of Oral & Facial Pain and Headache
https://www.readbyqxmd.com/read/28437513/prevalence-of-temporomandibular-disorders-in-the-northern-finland-birth-cohort-1966
#14
Päivi Jussila, Heikki Kiviahde, Ritva Näpänkangas, Jari Päkkilä, Paula Pesonen, Kirsi Sipilä, Pertti Pirttiniemi, Aune Raustia
AIMS: To investigate the prevalence of temporomandibular disorders (TMD) in the 46-year-old cohort subjects from the Northern Finland Birth Cohort 1966 (NFBC 1966). METHODS: Altogether, 1,962 subjects (1,050 women, 912 men) participated in a clinical medical and dental examination and responded to questionnaires in 2012 to 2013. The stomatognathic examination was performed according to a modified protocol of the Diagnostic Criteria for Temporomandibular Disorders (DC/TMD)...
April 2017: Journal of Oral & Facial Pain and Headache
https://www.readbyqxmd.com/read/28437490/the-diagnosis-and-initial-treatment-of-patellofemoral-disorders
#15
Alan C Merchant, John P Fulkerson, Wayne Leadbetter
Our purpose is to provide simple guidelines for the diagnosis and early care of patellofemoral disorders. Any clinician who treats knee problems, including family practitioners, rheumatologists, orthopedic surgeons, or physical therapists, must know how to make the correct diagnosis, or at least a presumptive diagnosis, at the initial visit. This can avoid unneeded and costly tests, ineffective treatment, and even damaging exercises and unnecessary surgery. The diagnosis of patellofemoral disorders is confusing because they can have many causes...
March 2017: American Journal of Orthopedics
https://www.readbyqxmd.com/read/28437472/socioeconomic-status-and-type-2-diabetes-complications-among-young-adult-patients-in-japan
#16
Mitsuhiko Funakoshi, Yasushi Azami, Hisashi Matsumoto, Akemi Ikota, Koichi Ito, Hisashi Okimoto, Nobuaki Shimizu, Fumihiro Tsujimura, Hiroshi Fukuda, Chozi Miyagi, Sayaka Osawa, Ryo Osawa, Jiro Miura
OBJECTIVE: To assess the relationship between socioeconomic status (SES) and complications of type 2 diabetes among young adults in Japan. DESIGN: A cross-sectional study. SETTING: Outpatient wards of 96 member hospitals and clinics of the Japan Federation of Democratic Medical Institutions. PARTICIPANTS: A total of 782 outpatients with type 2 diabetes (525 males, 257 females), aged 20-40 years as of March 31, 2012. After excluding 110 participants whose retinopathy diagnosis was in question, 672 participants were analyzed...
2017: PloS One
https://www.readbyqxmd.com/read/28437459/management-and-outcomes-of-severe-dengue-patients-presenting-with-sepsis-in-a-tropical-country
#17
Prapit Teparrukkul, Viriya Hantrakun, Nicholas P J Day, T Eoin West, Direk Limmathurotsakul
BACKGROUND: Dengue is a common cause of infection in adults in tropical countries. Sepsis is a syndrome of systemic manifestations induced by infection of any organisms; including bacterial, fungal and viral agents. Here, we investigated the diagnosis, management and outcomes of dengue patients presenting with sepsis in a prospective study of community-acquired sepsis in Thailand. METHODS: From June to December 2015, 874 adult patients (age≥18 years) with suspected or documented community-acquired infection, with ≥3 diagnostic criteria for sepsis according to the Surviving Sepsis Campaign 2012, and within 24 hours of admission were evaluated...
2017: PloS One
https://www.readbyqxmd.com/read/28437442/relationship-between-early-onset-severe-intrahepatic-cholestasis-of-pregnancy-and-higher-risk-of-meconium-stained-fluid
#18
Maria C Estiú, Maria A Frailuna, Carla Otero, Marcela Dericco, Catherine Williamson, Jose J G Marin, Rocio I R Macias
BACKGROUND: Intrahepatic cholestasis of pregnancy (ICP) is the commonest gestational liver disease. The risk of adverse fetal outcome has been associated with the severity of maternal hypercholanemia after diagnosis. OBJECTIVE: To investigate whether there is a relationship between the severity and timing of onset of hypercholanemia and the risk of meconium-stained amniotic fluid (MSAF) and adverse neonatal events. STUDY DESIGN: The study included 382 pregnancies complicated by ICP managed at a referral hospital in Buenos Aires (Argentina) between June 2009 and December 2013...
2017: PloS One
https://www.readbyqxmd.com/read/28437325/presenting-features-and-prognosis-of-ischemic-and-nonischemic-neonatal-liver-failure
#19
Carlos Zozaya Nieto, Beatriz Fernández Caamaño, Gema Muñoz Bartolo, Juan J Menéndez Suso, Esteban Frauca Remacha, Eva Valverde Núñez
OBJECTIVES: To describe the epidemiological features, clinical characteristics and outcomes of neonates diagnosed with liver failure, as well as determine prognostic factors. METHODS: Cohort study conducted at a single tertiary referral and university-affiliated pediatric center. Hospital records of all neonates diagnosed with liver failure between January 2003 and December 2015 were retrospectively reviewed, and data on clinical and laboratory findings, treatment, and outcomes were collected...
May 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28437324/noncirrhotic-portal-fibrosis-in-pediatric-population
#20
Vikrant Sood, Bikrant B Lal, Rajeev Khanna, Dinesh Rawat, Chhagan Bihari, Seema Alam
OBJECTIVES: Noncirrhotic portal fibrosis (NCPF) has been classically described as a disease of young to middle age with limited literature regarding its occurrence, onset, or clinical presentation in children. We hereby present a series of 19 patients diagnosed and managed as NCPF in pediatric age group. METHODS: A retrospective review of all the patients presenting to the pediatric hepatology department (age <18 years) and diagnosed as NCPF was done and data were evaluated...
May 2017: Journal of Pediatric Gastroenterology and Nutrition
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