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https://www.readbyqxmd.com/read/28422407/mutations-in-tgds-associated-with-additional-malformations-of-the-middle-fingers-and-halluces-atypical-catel-manzke-syndrome-in-a-fetus
#1
Katharina Schoner, Rainer Bald, Denise Horn, Helga Rehder, Uwe Kornak, Nadja Ehmke
Pierre-Robin sequence, radial deviation, and ulnar clinodactyly of the index fingers due to an additional phalangeal bone, as well as heart defects are the key features of Catel-Manzke syndrome. Although mutations in TGDS were identified as the cause of this disorder, the pathogenetic mechanism remains unknown. Here, we report on a fetus with severe heart defect, nuchal edema, talipes, Pierre-Robin sequence, and bilateral deviation and clinodactyly of the index and middle fingers. Pregnancy was terminated at the 22nd week of gestation...
April 19, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28414677/a-rare-case-of-tropical-pyomysitis-acquired-on-vacation-in-a-healthy-male
#2
K Poole, T Tran
INTRODUCTION: Pyomyositis has traditionally been considered a tropical disease. Increasing prevalence has been observed in more northern climates, especially with HIV, immunosuppression, and IV drug abuse as predisposing factors. Pyomyositis has the tendency to mimic other conditions, such as muscle contusion, necrotizing fasciitis, or septic arthritis. The rarity of this disease and non-specificity of its symptoms often lead to delay in appropriate diagnosis and treatment. CASE: 24-year-old man, seen 2 days prior in orthopedics clinic and the Emergency Department for persistent gluteal pain thought to be due to right-sided sciatica, was admitted following worsening pain, diffuse generalized weakness with polyarthralgias and myalgias These symptoms were associated with night sweats, shaking chills, and difficulty walking...
March 2017: Journal of the Louisiana State Medical Society: Official Organ of the Louisiana State Medical Society
https://www.readbyqxmd.com/read/28413485/therapeutic-efficacy-of-phentolamine-in-the-management-of-severe-hand-foot-and-mouth-disease-combined-with-pulmonary-edema
#3
Zhixin Yan, Yaokai Shang, Fengxian Li, Fei Xie, Huili Qian, Youqi Zhang, Bin Yue
The aim of this study was to examine the effects of phentolamine on severe hand, foot and mouth disease (HFMD) combined with pulmonary edema (PE). From May 2008 to December 2012, 53 children with severe HFMD plus PE were enrolled in the treatment group, receiving phentolamine intravenously at a loading dose of 5 µg/kg/min. The control group comprised 52 children with the same disease who did not receive phentolamine infusion. Data concerning creatine kinase (CK), CK-MB, cardiac troponin I (cTnI), heart rate, systolic blood pressure (SBP) and the duration of ventilation dependence and hospitalization were collected...
April 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28410605/frosted-branch-angiitis-and-cerebral-venous-sinus-thrombosis-as-an-initial-onset-of-neuro-beh%C3%A3-et-s-disease-a-case-report-and-review-of-the-literature
#4
Bruno Fortaleza de Aquino Ferreira, Ever Ernesto Caso Rodriguez, Leandro Lara do Prado, Celio Roberto Gonçalves, Carlos Eduardo Hirata, Joyce Hisae Yamamoto
BACKGROUND: Frosted branch angiitis is a rare, severe condition. It can be either a primary or a secondary condition and is characterized by rapid deterioration of vision and fulminant retinal vasculitis that manifests as diffuse sheathing of retinal vessels, macular edema, papillitis, vitritis and anterior uveitis. We aimed to describe a case of frosted branch angiitis and cerebral venous sinus thrombosis as an initial neuro-Behçet's disease onset. Diagnosis of Behçet's disease was based on the current 2014 International Criteria for Behçet's Disease and the International consensus recommendation criteria for neuro-Behçet's disease...
April 15, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28384566/impact-of-genetic-changes-pathogenicity-and-antigenicity-on-enterovirus-a71-vaccine-development
#5
REVIEW
Pinn Tsin Isabel Yee, Chit Laa Poh
Enterovirus-A71 (EV-A71) is an etiological agent of the hand, foot and mouth disease (HFMD). EV-A71 infection produces high fever and ulcers in children. Some EV-A71 strains produce severe infections leading to pulmonary edema and death. Although the protective efficacy of the inactivated vaccine (IV) was ≥90% against mild HFMD, there was approximately 80% protection against severe HFMD. The monovalent EV-A71 IV elicits humoral immunity but lacks long-term immunogenicity. Spontaneous mutations of the EV-A71 genome could lead to antigenicity changes and the virus may not be neutralized by antibodies elicited by the IV...
April 3, 2017: Virology
https://www.readbyqxmd.com/read/28376025/simultaneous-keratolimbal-autograft-and-penetrating-autokeratoplasty-a-single-stage-procedure-to-restore-monocular-vision-of-a-blind-patient-with-limbal-stem-cell-deficiency
#6
Elias Jarade, Mazen Amro, Ali A Haydar, Adib Hemade
PURPOSE: To describe the technique of simultaneous keratolimbal autograft and penetrating autokeratoplasty to restore monocular vision of a blind patient with limbal stem cell deficiency (LSCD). METHODS: A patient with acquired monocular vision due to loss of the left eye owing to LSCD postblast injury presented with acute loss of vision in the right eye due to central retinal artery occlusion. Simultaneous keratolimbal autograft and penetrating autokeratoplasty were performed in attempt to restore his vision in the left eye...
April 3, 2017: Cornea
https://www.readbyqxmd.com/read/28372572/distal-appendicular-skeletal-involvement-of-diffuse-large-b-cell-lymphoma-on-technetium-99m-methylenediphosphonate-bone-scintigraphy-and-18-f-fluorodeoxyglucose-positron-emission-tomography-computed-tomography-a-case-report
#7
Insook Park, Sungmin Kang
BACKGROUND: We report a case of a patient with appendicular bone involvement of diffuse large B-cell lymphoma visualized by whole-body technetium-99m methylenediphosphonate bone scintigraphy (bone scan) and (18)F-fluorodeoxyglucose positron emission tomography/computed tomography. CASE PRESENTATION: A 73-year-old Asian man who had gingival swelling of the labial area of the left maxillary lateral incisor presented to our institution. Positron emission tomography/computed tomography demonstrated hypermetabolic lesions with maximum standardized uptake values of 12...
April 4, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28360511/health-related-quality-of-life-visual-function-and-treatment-satisfaction-following-intravitreal-dexamethasone-implant-for-diabetic-macular-edema
#8
Jayashree Ramu, Irini Chatziralli, Yit Yang, Geeta Menon, Clare Bailey, Michael Eckstein, Phil Hykin, Sobha Sivaprasad
PURPOSE: The aim of this study was to explore and describe quantitatively patient-reported outcome measures (PROMs), ie, health-related quality of life (QoL), visual function and treatment satisfaction, in patients with diabetic macular edema (DME) receiving two different regimens of Ozurdex (intravitreal dexamethasone implant). METHODS: In this multicenter, prospective study, 100 patients with center-involving refractory DME were randomized 1:1 to either five monthly fixed dosing or optical coherence tomography (OCT)-guided pro re nata (PRN) regimen of dexamethasone intravitreal implant therapy...
2017: Patient Preference and Adherence
https://www.readbyqxmd.com/read/28358745/stenotrophomonas-maltophilia-endophthalmitis-1-month-after-intravitreal-aflibercept
#9
Paul S Boeke, Justin L Gottlieb
PURPOSE: Endophthalmitis caused by Stenotrophomonas maltophilia is rare and has been described after cataract surgery and open globe injuries. We report a patient with endophthalmitis caused by this organism after uncomplicated intravitreal aflibercept injection. METHODS: A 70-year-old man with a history of anti-vascular endothelial growth factor therapy for diabetic macular edema presented 23 days after aflibercept injection with clinical diagnosis of endophthalmitis...
March 29, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/28358140/a-pilot-study-on-transient-ischemic-stroke-induced-with-endothelin-1-in-the-rhesus-monkeys
#10
PeiMin Dai, Hui Huang, Lin Zhang, Jing He, XuDong Zhao, FuHan Yang, Ning Zhao, JianZhen Yang, LongJiao Ge, Yu Lin, HuaLin Yu, JianHong Wang
Endothelin-1 (ET-1), a vasoconstrictor, has recently been used to induce focal ischemia in rodents and marmoset monkeys. The rhesus monkey, however, has numerous advantages to the rodent and marmoset that make it a superior and irreplaceable animal model for studying stroke in the brain. In the present study, after mapping the preferred hand representation in two healthy male monkeys with intracortical micro-stimulation, ET-1 was microinjected into the contralateral motor cortex (M1) to its preferred hand. The monkeys had been trained in three manual dexterity tasks before the microinjection and were tested for these tasks following the ET-1 injection...
March 30, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28357106/persistent-arthralgia-vomiting-and-hypercalcemia-as-the-initial-manifestations-of-hyperthyroidism-a-case-report
#11
Jingfang Liu, Xulei Tang, Jianguo Cheng, Xiaomei Yang, Yan Wang
A 53-year-old woman presented with persistent edema and pain of the metacarpophalangeal and proximal interphalangeal joints and the wrist, knee and ankle joints, with more recent intermittent nausea and vomiting. Treatment for rheumatoid arthritis and osteoarthritis was ineffective. No clinical manifestations typical of hyperthyroidism were observed. The results of the thyroid function tests were as follows: Thyroid-stimulating hormone, 0.003 µIU/ml; triiodothyronine (T3), 4.44 ng/ml;, thyroxine (T4) >30 µg/dl; free T3, 14...
February 2017: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/28356127/photon-irradiation-using-a-water-bath-technique-for-treatment-of-confluent-carcinoma-in-situ-of-the-hand-digits-and-nail-bed-a-case-report
#12
Chelain R Goodman, Albert DeNittis
BACKGROUND: Confluent squamous cell carcinoma in situ, or Bowen's disease, involving the hand, digit, and nail bed is rare and represents a significant therapeutic challenge. Surgical excision is recommended as first-line treatment but in cases of extensive disease can lead to unacceptable functional morbidity or cosmetic outcomes. Radiation therapy has been shown to be equally efficacious to surgery in the treatment of carcinoma in situ but its use has historically been limited due to concerns regarding toxicity...
March 30, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28351052/diabetic-macular-edema
#13
Francesco Bandello, Maurizio Battaglia Parodi, Paolo Lanzetta, Anat Loewenstein, Pascale Massin, Francesca Menchini, Daniele Veritti
Diabetic macular edema (DME), defined as a retinal thickening involving or approaching the center of the macula, represents the most common cause of vision loss in patients affected by diabetes mellitus. In the last few years, many diagnostic tools have proven to be useful in the detection and the monitoring of the features characterizing DME. On the other hand, several therapeutic approaches can now be proposed on the basis of the DME-specific characteristics. The aim of the present chapter is to thoroughly delineate the clinical and morphofunctional characteristics of DME and its current treatment perspectives...
2017: Developments in Ophthalmology
https://www.readbyqxmd.com/read/28346850/risk-factors-related-to-lower-limb-edema-compression-and-physical-activity-during-pregnancy-a-retrospective-study
#14
Katarzyna Ochalek, Katarzyna Pacyga, Marta Curyło, Aleksandra Frydrych-Szymonik, Zbigniew Szygula
OBJECTIVE: The aim of the article was to assess risk factors and to analyze methods applied in the prevention and treatment of lower limb edema in pregnant women with a particular focus on compression therapy and exercise. MATERIALS AND METHODS: Fifty-four women during the early 24-hour period following delivery were assigned to two groups-either to a group with swellings of lower limbs during pregnancy, located mostly in the region of feet and lower legs (Group A, n = 42), or to a group without edema (Group B, n = 12)...
March 27, 2017: Lymphatic Research and Biology
https://www.readbyqxmd.com/read/28337356/cervical-stimulation-in-the-treatment-of-children-with-lymphedema-of-all-four-extremities-a-case-report-and-literature-review
#15
Livia Maria Pereira de Godoy, Paula Pereira de Godoy Capeletto, José Maria Pereira de Godoy, Maria de Fátima Guerreiro Godoy
Aim. The aim of this study is to report on the use of cervical stimulation as monotherapy to reduce swelling and normalize the size of limbs in two children with lymphedema of all four extremities. Case Presentation. One child also had hemifacial edema. In both cases, the mothers were trained to perform cervical stimulation under professional supervision. The cases of two girls, one of eight months and the other of six months, with primary congenital lymphedema are described. Outcome. After clinical diagnosis, the patients started treatment with cervical stimulation three times per week...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28320099/light-emitting-diode-led-therapy-improves-occipital-cortex-damage-by-decreasing-apoptosis-and-increasing-bdnf-expressing-cells-in-methanol-induced-toxicity-in-rats
#16
Amir Ghanbari, Majid Ghareghani, Kazem Zibara, Hamdallah Delaviz, Elham Ebadi, Mohammad Hossein Jahantab
Methanol-induced retinal toxicity, frequently associated with elevated free radicals and cell edema, is characterized by progressive retinal ganglion cell (RGC) death and vision loss. Previous studies investigated the effect of photomodulation on RGCs, but not the visual cortex. In this study, the effect of 670nm Light-Emitting Diode (LED) therapy on RGCs and visual cortex recovery was investigated in a seven-day methanol-induced retinal toxicity protocol in rats. Methanol administration showed a reduction in the number of RGCs, loss of neurons (neuronal nuclear antigen, NeuN+), activation of glial fibrillary acidic protein (GFAP+) expressing cells, suppression of brain-derived neurotrophic factor (BDNF+) positive cells, increase in apoptosis (caspase 3+) and enhancement of nitric oxide (NO) release in serum and brain...
March 17, 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/28319720/expert-assessment-of-the-resilience-of-drinking-water-and-sanitation-systems-to-climate-related-hazards
#17
Jeanne Luh, Sarah Royster, Daniel Sebastian, Edema Ojomo, Jamie Bartram
We conducted an expert assessment to obtain expert opinions on the relative global resilience of ten drinking water and five sanitation technologies to the following six climate-related hazards: drought, decreased inter-annual precipitation, flood, superstorm flood, wind damage, and saline intrusion. Resilience scores ranged from 1.7 to 9.9 out of a maximum resilience of 10, with high scores corresponding to high resilience. We find that for some climate-related hazards, such as drought, technologies demonstrated a large range in resilience, indicating that the choice of water and sanitation technologies is important for areas prone to drought...
March 16, 2017: Science of the Total Environment
https://www.readbyqxmd.com/read/28291150/acquired-constriction-ring-a-case-of-rubber-band-syndrome
#18
Rahel Meier, Luzian Haug, Carsten Surke, Lukas Mathys, Esther Vögelin
Rubber band syndrome is a rare entity seen in younger children mainly in communities where rubber bands are worn around the wrist for decorative purposes. When the band is worn for a long duration, it burrows through the skin and soft tissues resulting in distal edema, loss of function, and even damage to the neurovascular structures. These symptoms are difficult to relate to this rare but typical condition. We report a case of a 2¾-year-old girl with the history of a linear circumferential scar at the right wrist combined with the limited use of a swollen hand for several weeks...
March 13, 2017: Pediatric Emergency Care
https://www.readbyqxmd.com/read/28247336/the-role-of-dyslipidemia-control-in-the-progression-of-diabetic-retinopathy-in-patients-with-type-2-diabetes-mellitus
#19
Irini P Chatziralli
Diabetic retinopathy (DR) is a common microvascular complication of diabetes mellitus (DM) and is considered as the leading cause of visual impairment in working-aged adults worldwide. Dyslipidemia has been associated with DR, but not with progression to the proliferative form of DR, although the exact role in the pathogenesis of DR and diabetic macular edema (DME) remains controversial. As a result, a reasonable question arising is whether control of dyslipidemia may alter the course of DR. Statins do not appear to have an impact on DR progression...
April 2017: Diabetes Therapy: Research, Treatment and Education of Diabetes and related Disorders
https://www.readbyqxmd.com/read/28231367/fiddler-s-neck-a-review
#20
Calvin W Myint, Amy L Rutt, Robert T Sataloff
Fiddler's neck is a common dermatologic condition associated with instrument use in violin and viola players. It typically manifests as a submandibular and/or supraclavicular lesion. It is a benign condition, but it may be mistaken for lymphedema or a salivary gland malignancy. Otolaryngologists who treat patients with fiddler's neck should be aware of appropriate management protocols and the need to avoid surgical excision. We obtained informed consent from 3 violinists to present their cases as specific examples of fiddler's neck...
February 2017: Ear, Nose, & Throat Journal
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