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https://www.readbyqxmd.com/read/28210839/thrombotic-microangiopathy-caused-by-methionine-synthase-deficiency-diagnosis-and-treatment-pitfalls
#1
Maria Helena Vaisbich, Andressa Braga, Maria Gabrielle, Clarissa Bueno, Flávia Piazzon, Fernando Kok
BACKGROUND: Inborn errors of cobalamin (Cbl) metabolism form a large group of rare diseases. One of these, Cbl deficiency type C (CblC), is a well-known cause of thrombotic microangiopathy (TMA), especially in infants. However, there has only been a single published case of TMA associated to Cbl deficiency type G (CblG), also known as methionine synthase deficiency (MSD). CASE DIAGNOSIS/TREATMENT: A 21-month-old boy presented with pallor and oral ulcers during episodes of upper respiratory infection (URI)...
February 16, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28193996/a-case-report-of-primary-nasal-natural-killer-nk-t-cell-lymphoma-in-an-african-american-patient-presenting-with-hemophagocytic-syndrome
#2
Bowei Tan, Cherif Abdelmalek, James E O'Donnell, Thomas Toltaku, Rashid Chaudhry, Jen C Wang, Vladimir Gotlieb
BACKGROUND Extranodal natural killer/T-cell lymphoma, nasal type (ENKTCL) is generally an aggressive and rare non-Hodgkin lymphoma. It is most common in East Asians, Native Americans, and South Americans, but is rarely reported in blacks. CASE REPORT A 55-year-old African American male born in Grenada presented with a left nostril mass with facial swelling and biopsy subsequently confirmed a diagnosis of extranodal NK/T-cell lymphoma, nasal type (ENKTCL). Immunochemistry was positive for CD2, cytoplasmic CD3, CD7, CD 43, CD 56, granzyme B, and TIA-1...
February 14, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28187807/neuropulmonology
#3
A Balofsky, J George, P Papadakos
Neuropulmonology refers to the complex interconnection between the central nervous system and the respiratory system. Neurologic injury includes traumatic brain injury, hemorrhage, stroke, and seizures, and in each there are far-reaching effects that can result in pulmonary dysfunction. Systemic changes can induce impairment of pulmonary function due to changes in the core structure and function of the lung. The conditions and disorders that often occur in these patients include aspiration pneumonia, neurogenic pulmonary edema, and acute respiratory distress syndrome, but also several abnormal respiratory patterns and sleep-disordered breathing...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28182668/cross-sectional-study-of-mode-of-delivery-and-maternal-and-perinatal-outcomes-in-mainland-china
#4
Lei Hou, Susan Hellerstein, Allison Vitonis, Liying Zou, Yan Ruan, Xin Wang, Weiyuan Zhang
BACKGROUND: Cesarean delivery (CD) rates have risen globally with nearly 50% of the non-indicated CDs worldwide in China and Brazil. In China's One Child Policy era (1979-2015) most deliveries were women having their only child. Family size is a major determinant of the safety of medically non-indicated CD or CD on maternal request. The goal of this study is to document CD rates, indications, and analyze the relative safety of non-indicated CD compared to SVD and intrapartum CD. METHODS: Univariate and multivariate logistic regression analyses of the association between mode of delivery and short-term maternal and perinatal outcomes were performed on a cross-section of all deliveries at 39 hospitals in 14 provinces of China in 2011, presented as adjusted odds ratio (aOR), 99% confidence intervals (CI)...
2017: PloS One
https://www.readbyqxmd.com/read/28169555/aspiration-thrombectomy-and-intracoronary-tirofiban-via-guideliner-%C3%A2-catheter-for-a-thrombosed-aneurysmal-vessel
#5
James Fry, Ali Naqvi, Amit Bahia, Arnold Seto
A 52-year-old Asian male with no traditional risk factors for coronary artery disease presented with acute coronary syndrome. Coronary angiography showed complete thrombotic occlusion of the left circumflex with a large thrombus burden in the setting of diffuse aneurysmal enlargement of the coronary arteries consistent with antecedent Kawasaki disease. Manual thrombectomy with adjunctive intracoronary tirofiban was performed utilizing the GuideLiner catheter. Stent implantation was deferred. Follow-up imaging 48 h later showed preserved coronary flow and decreased thrombus burden...
February 7, 2017: Future Cardiology
https://www.readbyqxmd.com/read/28168570/early-enteral-nutrition-in-critically-ill-patients-esicm-clinical-practice-guidelines
#6
REVIEW
Annika Reintam Blaser, Joel Starkopf, Waleed Alhazzani, Mette M Berger, Michael P Casaer, Adam M Deane, Sonja Fruhwald, Michael Hiesmayr, Carole Ichai, Stephan M Jakob, Cecilia I Loudet, Manu L N G Malbrain, Juan C Montejo González, Catherine Paugam-Burtz, Martijn Poeze, Jean-Charles Preiser, Pierre Singer, Arthur R H van Zanten, Jan De Waele, Julia Wendon, Jan Wernerman, Tony Whitehouse, Alexander Wilmer, Heleen M Oudemans-van Straaten
PURPOSE: To provide evidence-based guidelines for early enteral nutrition (EEN) during critical illness. METHODS: We aimed to compare EEN vs. early parenteral nutrition (PN) and vs. delayed EN. We defined "early" EN as EN started within 48 h independent of type or amount. We listed, a priori, conditions in which EN is often delayed, and performed systematic reviews in 24 such subtopics. If sufficient evidence was available, we performed meta-analyses; if not, we qualitatively summarized the evidence and based our recommendations on expert opinion...
February 6, 2017: Intensive Care Medicine
https://www.readbyqxmd.com/read/28166918/the-concomitant-occurrence-of-pulmonary-tuberculosis-with-bronchial-anthracofibrosis
#7
Shekhar Kunal, Ashok Shah
BACKGROUND: Bronchial anthracofibrosis (BAF), diagnosed bronchoscopically, is a clinical entity which is now beginning to emerge from obscurity. This is commonly encountered in elderly females with history of long-standing exposure to biomass fuel smoke in poorly ventilated kitchens. As awareness of BAF has increased in recent times, distinct clinicoradiological and bronchoscopic features of the disease have emerged. Diagnosis is achieved by visualisation of bluish-black mucosal hyperpigmentation along with narrowing/distortion of the affected bronchus on fibreoptic bronchoscopy (FOB)...
January 2017: Indian Journal of Tuberculosis
https://www.readbyqxmd.com/read/28166080/stress-induced-gastric-ulcers-presenting-as-massive-rectal-bleeding-in-a-newborn
#8
A Joshi, P S Shrestha, S Dangol, N C Shrestha, P Poudyal, A Shrestha A
Severe gastrointestinal bleeding in newborn period is a serious but uncommon phenomenon that has a broad differential diagnosis. Primary duodenal ulcers are rare in children but stress induced ulceration in stomach occurs more often in neonatal period due to birth asphyxia, prolonged labour, cesarean deliveries, instrumentations, respiratory distress syndrome and sepsis. These present as acute onset of gastrointestinal bleeding commonly as altered gastric aspirate, hematemesis or malena. We report a case of a neonate with stress induced gastric bleeding following birth asphyxia who presented with massive gastrointestinal bleed manifesting as hematemesis and massive rectal bleeding...
April 2016: Kathmandu University Medical Journal (KUMJ)
https://www.readbyqxmd.com/read/28164057/tubercular-tenosynovitis-of-hand-a-rare-presentation
#9
Aditya Jain, Rajesh Rohilla, Ashish Devgan, Jitendra Wadhwani
INTRODUCTION: Tuberculosis tenosynovitis of the wrist and hand is an unusual condition. It mimics a number of other clinical conditions such as ganglion, De quervan's disease, carpal tunnel syndrome, granulomatous gout, neurofibroma, and haemangioma. CASE REPORT: We present case of 58-year-old male patient with swelling over thenar region of left hand where the initial fine needle aspiration cytology (FNAC) report suggested diagnosis of ganglion/synovial cyst, but the patient did not improve with conservative treatment...
September 2016: Journal of Orthopaedic Case Reports
https://www.readbyqxmd.com/read/28159010/disseminated-nocardiosis-in-renal-transplant-recipient-under-therapy-for-pulmonary-tuberculosis-a-case-report
#10
Priyatam Khadka, Ramesh Bahadur Basnet, Pratap Khadka, Dibya Singh Shah, Bharat Mani Pokhrel, Basista Parsad Rijal, Jeevan Bahadur Sherchand
BACKGROUND: Nocardiosis is an opportunistic infection in a patient with underlying immune suppression and organ transplant. Clinical syndromes are varied and ranges from pulmonary, disseminated, cutaneous along with central nervous system involvement. CASE PRESENTATION: Herein, we report a rare case of disseminated pulmonary nocardiosis with cerebral manifestation in a 66 year-old-Nepali farmer; with a history of renal transplantation and undergoing therapy for pulmonary tuberculosis...
February 3, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/28155231/charge-syndrome-gastrointestinal-involvement-from-mouth-to-anus
#11
REVIEW
A Hudson, M Macdonald, J N Friedman, K Blake
CHARGE syndrome is an autosomal dominant disorder that occurs as a result of a heterozygous loss-of-function mutation in the chromodomain helicase DNA-binding (CHD7) gene, which is important for neural crest cell formation. Gastrointestinal (GI) symptoms and feeding difficulties are highly prevalent but are often a neglected area of diagnosis, treatment, and research. Cranial nerve dysfunction, craniofacial abnormalities, and other physical manifestations of this syndrome lead to gut dysmotility, sensory impairment, and oral-motor function abnormalities...
October 13, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/28151493/surfactant-reduced-the-mortality-of-neonates-with-birth-weight-%C3%A2-1500%C3%A2-g-and-hypoxemic-respiratory-failure-a-survey-from-an-emerging-nicu-network
#12
H Wang, X Gao, C Liu, C Yan, X Lin, Y Dong, B Sun
OBJECTIVE: We evaluated the efficacy of surfactant therapy and assisted ventilation on morbidity and mortality of neonates with birth weight (BW) ⩾1500 g and hypoxemic respiratory failure (HRF). STUDY DESIGN: We retrospectively analyzed 5650 patients with BW ⩾1500 g for incidence, management and outcome of HRF, defined as acute hypoxemia requiring mechanical ventilation and/or nasal continuous positive airway pressure ⩾24 h. The patients were allocated into groups of moderate preterm (1735, 30...
February 2, 2017: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/28133554/horner-syndrome-secondary-to-thyroid-surgery
#13
Meliha Demiral, Ciğdem Binay, Enver Simsek, Hüseyin Ilhan
Horner syndrome (HS), caused by an interruption in the oculosympathetic pathway, is characterised by myosis, ipsilateral blepharoptosis, enophthalmos, facial anhydrosis, and vascular dilation of the lateral part of the face. HS is a rare complication of thyroidectomy. A 15-year-old female patient presented with solitary solid and large nodule in the right thyroid lobe. Ultrasound-guided fine-needle aspiration was performed and the cytological examination results were undefined. The patient underwent a total thyroidectomy...
2017: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/28123980/catheter-directed-interventions-for-acute-deep-vein-thrombosis
#14
REVIEW
Maureen P Kohi, Ryan Kohlbrenner, Kanti P Kolli, Evan Lehrman, Andrew G Taylor, Nicholas Fidelman
Venous thromboembolism (VTE) is an extremely common form of vascular disease and impacts a great number of patients worldwide. Acute deep vein thrombosis (DVT) is a subset of VTE and is traditionally been treated with anticoagulation. There is good quality data which suggests the use of catheter directed interventions for the treatment of acute DVT with the aim of reducing post-thrombotic syndrome (PTS). The present review will discuss the various therapies available for acute DVT, focusing on catheter directed interventions, ranging from traditional anticoagulation to the most novel forms of aspiration thrombectomy...
December 2016: Cardiovascular Diagnosis and Therapy
https://www.readbyqxmd.com/read/28112037/basidiobolomycosis-complicated-by-hydronephrosis-and-a-perinephric-abscess-presenting-as-a-hypertensive-emergency-in-a-7-year-old-boy
#15
Sriram Krishnamurthy, Rakesh Singh, Venkatesh Chandrasekaran, Gopinathan Mathiyazhagan, Meenachi Chidambaram, S Deepak Barathi, Subramanian Mahadevan
A 7-year-old boy presented with a chronic, indurated, tender left thigh swelling in association with a hypertensive emergency. He had a bilateral moderate degree of hydronephrosis and a left perinephric abscess, and MRI features of posterior reversible encephalopathy syndrome. Histopathological examination of the biopsy specimen demonstrated eosinophilic fasciitis with filamentous fungi. Basidiobolus ranarum was isolated from the culture. The fungus was also isolated from a perinephric fluid aspirate. Computerised tomography of the abdomen demonstrated features consistent with fungal invasion of the pelvic floor muscles and urinary bladder, leading to bilateral hydronephrosis...
January 23, 2017: Paediatrics and International Child Health
https://www.readbyqxmd.com/read/28110388/venovenous-extracorporeal-membrane-oxygenation-in-two-morbidly-obese-patients
#16
Sagar Kadakia, Vishnu Ambur, Ryan Moore, Yoshiya Toyoda, Akira Shiose
Case studies on the use of venovenous extracorporeal membrane oxygenation in the obese patient have been infrequently reported. We report the successful utilization of venovenous extracorporeal membrane oxygenation in two obese patients with acute respiratory distress syndrome. The first patient had a body mass index of 93 and developed acute respiratory distress syndrome in the setting of pneumonia and aspiration while the second patient had a body mass index of 47 and developed acute respiratory distress syndrome in the setting of gastrografin aspiration...
January 21, 2017: General Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28081025/transdermal-scopolamine-withdrawal-syndrome-case-report-in-the-pediatric-cerebral-palsy-population
#17
Nasim A Chowdhury, Mary Laura Sewatsky, Heakyung Kim
Sialorrhea in children with cerebral palsy (CP) results in aspiration, decreased social integration, and poor quality of life. Management options include transdermal anticholinergics such as the scopolamine patch. A controlled clinical trial has proven botulinum toxin (BTX) injections into the salivary glands are an effective alternative to transdermal anticholinergics with a safer side effect profile. Multiple studies of the injections in diverse populations demonstrate reduction in saliva production with improvement in quality of life and decrease in hospitalization-associated costs...
January 9, 2017: American Journal of Physical Medicine & Rehabilitation
https://www.readbyqxmd.com/read/28079652/long-term-survival-and-causes-of-late-death-in-children-treated-with-extracorporeal-membrane-oxygenation
#18
Viktor von Bahr, Jan Hultman, Staffan Eksborg, Roxana Gerleman, Øyvind Enstad, Björn Frenckner, Håkan Kalzén
OBJECTIVE: Extracorporeal membrane oxygenation has been used in patients with severe circulatory or respiratory failure since the 1970s, but the knowledge on long-term survival in this group is scarce. The aim of the present study was to investigate the 10-year survival rates and causes of late death in children treated with extracorporeal membrane oxygenation. DESIGN: Single-center, retrospective cohort study. SETTING: Tertiary referral center for extracorporeal life support...
January 10, 2017: Pediatric Critical Care Medicine
https://www.readbyqxmd.com/read/28073516/early-diagnosis-of-systemic-amyloidosis-by-means-of-a-transverse-carpal-ligament-biopsy-carried-out-during-carpal-tunnel-syndrome-surgery
#19
Judit Fernández Fuertes, Óscar Rodríguez Vicente, Sergio Sánchez Herráez, Luis Rafael Ramos Pascua
INTRODUCTION AND OBJECTIVE: The systematic analysis of a carpal transverse ligament (CTL) sample obtained during routine carpal tunnel syndrome (CTS) surgery may constitute a method of early diagnosis for systemic amyloidosis. MATERIAL AND METHODS: Prospective study carried out on 147 consecutive CTL samples collected from patients intervened for CTS at the University Hospital of León from April 2006 to May 2007. In those cases in which amyloid deposition was observed in the CTL sample, the study was completed with a fine needle aspiration biopsy (FNAB) of the subcutaneous fascia, using the Red Congo stain in both cases...
January 7, 2017: Medicina Clínica
https://www.readbyqxmd.com/read/28062486/plasma-membrane-wounding-and-repair-in-pulmonary-diseases
#20
Xiaofei Cong, Rolf Dieter Hubmayr, Changgong Li, Xiaoli Zhao
Various pathophysiological conditions such as surfactant dysfunction, mechanical ventilation, inflammation, pathogen products, environmental exposures and gastric acid aspiration stress lung cells and the compromise of plasma membranes occur as a result. The mechanisms necessary for cells to repair plasma membrane defects have been extensively investigated in the last two decades, and some of these key repair mechanisms are also shown to occur following lung cell injury. As it was theorized that lung wounding and repair are involved in the pathogenesis of acute respiratory distress syndrome (ARDS) and idiopathic pulmonary fibrosis (IPF), in this review, we summarized the experimental evidence of lung cell injury in these two devastating syndromes, discuss relevant genetic, physical and biological injury mechanisms, as well as mechanisms utilized by lung cells for cell survival and membrane repair...
January 6, 2017: American Journal of Physiology. Lung Cellular and Molecular Physiology
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