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https://www.readbyqxmd.com/read/28944972/self-limited-neonatal-periumbilical-erythema
#1
Caitlin M Peterman, Keith W Morley, Jennifer K Tan, Marilyn G Liang
We report three cases of neonatal, noninfectious, periumbilical erythema that resolved shortly after umbilical stump detachment. We hypothesize that these infants experienced an inflammatory and vasodilatory response during the normal umbilical cord separation process. We propose a new term: self-limited neonatal periumbilical erythema.
September 25, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28944968/pediatric-vaccine-strain-herpes-zoster-a-case-series
#2
Sean Dreyer, Peera Hemarajata, Marcia Hogeling, Gregory P Henderson
BACKGROUND/OBJECTIVES: Herpes zoster (HZ) is caused by reactivation of the varicella zoster virus (VZV), and typically causes a painful, vesicular, dermatomal rash in adults over the age of fifty. However, HZ has been known to present in immunocompetent pediatric patients, which account for under 1% of total cases. Pediatric cases are typically caused by natural infection with VZV, but among vaccinated children up to half of cases can be due to vaccine-strain VZV. We present two such cases of vaccine-strain HZ in pediatric patients...
September 25, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28944967/risk-for-chromosomal-aberrations-in-apparently-isolated-intra-uterine-growth-restriction-a-systematic-review
#3
REVIEW
Lena Sagi-Dain, Amir Peleg, Shlomi Sagi
OBJECTIVE: To perform a systematic review examining the risk of chromosomal aberrations in apparently isolated intra-uterine growth restriction (IUGR). METHODS: Search was conducted by research librarian in five databases. By independent screening of 2894 references, two investigators selected original studies examining the risk of chromosomal aberrations in apparently isolated IUGR diagnosed at the second and third trimesters using ultrasound. We excluded studies describing IUGR combined with additional fetal anomalies detected by ultrasound and those where fetuses with structural anomalies or aneuploidy were not reported...
September 25, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28944942/paramedian-forehead-flap-for-repair-of-refractory-high-flow-anterior-skull-base-csf-leak
#4
Jeremy Ciporen, Brandon Lucke-Wold, Haley Gillham, David Cua, Jason Kim, Paul Akins
AIM: The paramedian forehead flap (PMFF) has been well described for nasal reconstruction. However, it has never been reported for use in the repair of high flow anterior skull base cerebral spinal fluid (CSF) leaks. MATERIAL AND METHODS: The patient is a 55 yo African American male cocaine abuser who initially presented with a high flow anterior skull base CSF leak, extensive pneumocephalus, and intra-cerebral and intra-ventricular abscesses with an oro-nasal-cerebral fistula...
July 11, 2017: Turkish Neurosurgery
https://www.readbyqxmd.com/read/28944940/ruptured-distal-accessory-anterior-cerebral-artery-aneurysm-a-case-report-and-literature-review
#5
Alperen Sirin, Ulas Cikla, Kutluay Uluc, Mustafa Kemal Baskaya
Aneurysms of the distal anterior cerebral artery (dACA) are rare, consisting only 2-6% of all intracranial aneurysms. dACA aneurysms are often associated with anomalies such as azygous, bihemispheric and triplication of ACA. Among these anomalies accessory anterior cerebral artery (accACA) is an anatomical variant found in 3.3% to 15% of the population. Here we report a case of a 60-year-old female who presented with a Hunt and Hess grade II, Fisher grade III subarachnoid hemorrhage secondary to a ruptured saccular aneurysm originating from the pericallosal-callosomarginal artery bifurcation at the A3 segment of the accessory ACA and underwent an uncomplicated microsurgical clipping...
July 12, 2017: Turkish Neurosurgery
https://www.readbyqxmd.com/read/28944914/gene-screening-facilitates-diagnosis-of-complicated-symptoms-a-case-report
#6
Hong Duan, Di Zhang, Jing Cheng, Yu Lu, Huijun Yuan
Gene mutation has an important role in disease pathogenesis; therefore, genetic screening is a useful tool for diagnosis. The present study screened pathogenic genes, ectodysplasin A (EDA) and lamin A/C (LMNA), in a patient with suspected syndromic hearing impairment and various other symptoms including tooth and skin abnormalities. Large‑scale sequencing of 438 deafness‑associated genes and whole‑genome sequencing was also performed. The present findings did not identify copy number variation and mutations in EDA; therefore, excluding the possibility of EDA‑initiated ectodermal dysplasia syndrome...
September 22, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28944857/a-novel-fbn1-mutation-causes-autosomal-dominant-marfan-syndrome
#7
Ying Xiao, Xiaoqi Liu, Xiaoxin Guo, Liping Liu, Linxin Jiang, Qi Wang, Bo Gong
Marfan syndrome (MFS) is an inherited and systemic disorder. It has been reported that mutations in the fibrillin‑1 gene (FBN1) account for ~90% of autosomal dominant cases of MFS. This study was conducted to screen mutations of FBN1 in a Chinese family with autosomal dominant MFS; four individuals including two patients with MFS were recruited. The family members underwent complete physical, cardiovascular and ophthalmologic examinations. Genomic DNA samples were collected from the family along with 383 unrelated healthy subjects...
September 20, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28944768/a-large-metastatic-intramammary-lesion-of-an-occult-melanoma
#8
Eleonora Nacchiero, Stefania Stucci, Paolo Annoscia, Michelangelo Vestita, Rossella Elia, Paolo Claudio Marannino
OBJECTIVE: Malignant melanomas presenting with unknown primaries are uncommon. In the majority of cases metastases of occult melanoma were detected in skin or in lymph nodes. Melanoma can rarely occur as a primary or metastatic intramammary tumor. CASE REPORT: We report the case of a 58-year-old Caucasian woman who came to our department with a voluminous mass in her right breast. Histopathological examination found metastasis of epithelioid melanoma with unknown primary lesion...
September 4, 2017: Annali Italiani di Chirurgia
https://www.readbyqxmd.com/read/28944729/using-performance-based-risk-sharing-arrangements-to-address-uncertainty-in-indication-based-pricing
#9
Kai Yeung, Meng Li, Josh J Carlson
BACKGROUND: The rise in pharmaceutical expenditures in recent years has increased health care payer interest in ensuring good value for the money. Indication-based pricing (IBP) sets separate, indication-specific prices paid to the manufacturer according to the expected efficacy of a drug in each of its indications. IBP allows payers to consistently pay for value across indications. While promising, a limitation of IBP as originally conceived is that efficacy estimates are typically based on clinical trial data, which may differ from real-world effectiveness...
October 2017: Journal of Managed Care & Specialty Pharmacy
https://www.readbyqxmd.com/read/28944708/partial-thrombosis-of-an-anterior-communicating-artery-aneurysm-prior-to-endovascular-coiling-with-intra-procedural-distal-thrombus-embolization
#10
Will Guest, Dipanka Sarma, Thomas Marotta
Thromboembolic stroke from migration of thrombus formed in non-giant intracranial aneurysms is a recognized but rare event. We describe a case of partial thrombosis of a 7 mm anterior communicating artery aneurysm, which embolized to the right callosomarginal artery in the brief time interval between two sequential diagnostic angiograms performed as part of elective endovascular coiling, and before any instrumentation had been advanced into the intracranial circulation. To our knowledge, this is the first reported case of aneurysmal thrombus embolization observed angiographically in near real time...
January 1, 2017: Interventional Neuroradiology
https://www.readbyqxmd.com/read/28944707/combined-use-of-stent-retriever-and-aspiration-thrombectomy-for-cerebral-venous-sinus-thrombosis-involving-the-straight-sinus-a-case-report
#11
Syunsuke Taniguchi, Kei Harada, Masahito Kajihara, Kozo Fukuyama
Cerebral venous sinus thrombosis (CVST) is generally treated with anticoagulation therapy, however, endovascular therapy is considered for refractory cases. A 42-year-old woman presented with a progressive disturbance in consciousness, and diagnosed CVST in the straight sinus (SS). Recanalization of SS was achieved by emergent thrombectomy using aspiration catheter and stent-retriever system, and her level of consciousness improved immediately. The combined use of them aided the removal of the thrombus located in the SS...
January 1, 2017: Interventional Neuroradiology
https://www.readbyqxmd.com/read/28944688/treatment-of-lichen-planopilaris-methotrexate-or-cyclosporine-a-therapy
#12
Emel Bulbul Baskan, Serkan Yazici
BACKGROUND: Because of irreversible outcome of the lichen planopilaris(LPP), systemic therapy should be used in early inflammatory stages of the disease, without allowing the irreversible scar formation and permanent hair loss. OBJECTIVE: We assessed the efficacy and safety of methotrexate(MTX) and cyclosporine A (CsA) in the management of recalcitrant, extensive LPP and compared their efficacy and safety profile. METHODS: We retrospectively analyzed the 16 LPP cases treated with either CsA or MTX therapy...
September 25, 2017: Cutaneous and Ocular Toxicology
https://www.readbyqxmd.com/read/28944683/-thoracic-migraine-as-a-new-manifestation-of-migraine-case-report
#13
Torsten Kraya, Stephan Mages, Stephan Zierz
Background and objectives Abdominal pain is a well-known headache-associated symptom in migraine in children, but rarely in adults. We describe a case of a female patient with typical accompanying migraine symptoms without headache but with thoracic pain. Case report The present case of a 41 year-old-woman shows recurrent attacks with thoracic pain and typical accompanying migraine symptoms but without headache. Symptoms resolved upon treatment with triptans and beta blockers. Discussion This case might be interpreted as "thoracic migraine", and extends the spectrum of migraine forms...
January 1, 2017: Cephalalgia: An International Journal of Headache
https://www.readbyqxmd.com/read/28944608/coexistence-of-mutations-in-keratin-10-krt10-and-the-mitochondrial-genome-in-a-patient-with-ichthyosis-with-confetti-and-leber-s-hereditary-optic-neuropathy
#14
Agnieszka Kalinska-Bienias, Agnieszka Pollak, Cezary Kowalewski, Urszula Lechowicz, Piotr Stawinski, Aleksandra Gergont, Joanna Kosinska, Ewa Pronicka, Pawel Kowalski, Katarzyna Wozniak, Rafal Ploski
Ichthyosis with confetti (IWC) is a severe congenital genodermatosis characterized by ichthyosiform erythroderma since birth and confetti-like spots of normal skin appearing in childhood as a results of revertant mosaicism. This disorder is caused by mutations in KRT10 or KRT1 genes. We report a 16-year-old boy who presented ichthyosiform erythroderma with severe desquamation since birth and gradually worsening psycho-neurological symptoms (mental retardation, ataxia, dystonia, hypoacusis). The patient conspicuously lacked typical confetti-like spots at the age of 16...
September 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28944602/hepatitis-e-virus-and-related-viruses-in-wild-domestic-and-zoo-animals-a-review
#15
REVIEW
C Spahr, T Knauf-Witzens, T Vahlenkamp, R G Ulrich, R Johne
Hepatitis E is a human disease mainly characterized by acute liver illness, which is caused by infection with the hepatitis E virus (HEV). Large hepatitis E outbreaks have been described in developing countries; however, the disease is also increasingly recognized in industrialized countries. Mortality rates up to 25% have been described for pregnant women during outbreaks in developing countries. In addition, chronic disease courses could be observed in immunocompromised transplant patients. Whereas the HEV genotypes 1 and 2 are mainly confined to humans, genotypes 3 and 4 are also found in animals and can be zoonotically transmitted to humans...
September 24, 2017: Zoonoses and Public Health
https://www.readbyqxmd.com/read/28944592/estimating-the-prevalence-of-borderline-personality-disorder-in-mothers-involved-in-youth-protection-services
#16
Lise Laporte, Joel Paris, Phyllis Zelkowitz
Characteristics of borderline personality disorder (BPD) can undermine maternal capacity and in some cases lead to involvement with youth protection services (YPS). Yet, few studies exist on the prevalence of maternal BPD in this context and on the comparison of these families with families with other maternal psychiatric disorders or families with no mental illness within YPS. The current study surveyed 291 caseworkers working with mothers whose children and adolescents are followed by YPS. After reported prevalence was adjusted with validation procedures, the prevalence of maternal BPD in a sample of 1875 mothers was 34...
September 24, 2017: Personality and Mental Health
https://www.readbyqxmd.com/read/28944589/evolution-of-gene-expression-after-whole-genome-duplication-new-insights-from-the-spotted-gar-genome
#17
Jeremy Pasquier, Ingo Braasch, Peter Batzel, Cedric Cabau, Jérome Montfort, Thaovi Nguyen, Elodie Jouanno, Camille Berthelot, Christophe Klopp, Laurent Journot, John H Postlethwait, Yann Guiguen, Julien Bobe
Whole-genome duplications (WGDs) are important evolutionary events. Our understanding of underlying mechanisms, including the evolution of duplicated genes after WGD, however, remains incomplete. Teleost fish experienced a common WGD (teleost-specific genome duplication, or TGD) followed by a dramatic adaptive radiation leading to more than half of all vertebrate species. The analysis of gene expression patterns following TGD at the genome level has been limited by the lack of suitable genomic resources. The recent concomitant release of the genome sequence of spotted gar (a representative of holosteans, the closest-related lineage of teleosts that lacks the TGD) and the tissue-specific gene expression repertoires of over 20 holostean and teleostean fish species, including spotted gar, zebrafish, and medaka (the PhyloFish project), offers a unique opportunity to study the evolution of gene expression following TGD in teleosts...
September 25, 2017: Journal of Experimental Zoology. Part B, Molecular and Developmental Evolution
https://www.readbyqxmd.com/read/28944588/left-ventricular-perforation-after-impella%C3%A2-placement-in-a-patient-with-cardiogenic-shock
#18
David C Peritz, Lee Linstroth, Craig H Selzman, Edward M Gilbert
Mechanical cardiovascular support devices are now widely used both in the setting of cardiogenic shock as well as during high risk cardiac catheterization procedures. We report a case of a young female patient who presented with presumed myocarditis and rapidly deteriorating decompensated heart failure requiring the implantation of an Impella Circulatory Support System. Upon transfer to our facility it was discovered that during transport, the Impella device had migrated through the left ventricle. She was emergently taken to the operating room where the Impella was surgically removed and biventricular support devices were placed...
September 25, 2017: Catheterization and Cardiovascular Interventions
https://www.readbyqxmd.com/read/28944379/septic-arthritis-of-the-temporomandibular-joint-after-acute-otitis-media-in-a-child
#19
Kathia Dubron, Jan Meeus, Koenraad Grisar, Stefanie Desmet, Titiaan Dormaar, Yannick Spaey, Constantinus Politis
Septic arthritis of the temporomandibular joint as a complication of acute otitis media is rare in the Western world. This report describes the case of a 7-year-old boy who had pain in his right ear and limited mouth opening, following the onset of acute otitis media. A contrast-enhanced computed tomography scan revealed right-sided mastoiditis and hydrops of the right temporomandibular joint, suggesting septic arthritis. Real-time PCR and microbiologic analysis identified Streptococcus pyogenes and Staphylococcus epidermidis in the joint aspirate...
September 22, 2017: Quintessence International
https://www.readbyqxmd.com/read/28944370/immediate-loading-of-zygomatic-implants-a-systematic-review-of-implant-survival-prosthesis-survival-and-potential-complications
#20
Frank J Tuminelli, Leora R Walter, Jay Neugarten, Edmond Bedrossian
STATEMENT OF PROBLEM: Zygomatic implants have been utilised for the treatment of the severely atrophic maxilla since 1998. However, few articles exist as to the success of zygomatic implants and immediate loading of its prosthesis. AIM: To systematically review the outcome of immediate loaded zygomatic implants. MATERIALS AND METHODS: An electronic PubMed search was performed to identify case reports, prospective and retrospective studies of immediately loaded zygomatic implants with a mean follow-up of 12 months...
2017: European Journal of Oral Implantology
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