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Pediatric index of suspicion

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https://www.readbyqxmd.com/read/27861220/hereditary-neuropathy-with-liability-to-pressure-palsies-diverse-phenotypes-in-childhood
#1
Yohei Harada, Araya Puwanant, David N Herrmann
Hereditary neuropathy with liability to pressure palsies (HNPP) is a rare autosomal-dominant disorder that most commonly produces recurrent painless focal sensory and motor neuropathies often preceded by minor, mechanical stress, or minor trauma. Herein, we report 2 pediatric cases of HNPP with atypical presentations; isolated muscle cramping and toe walking. Electrophysiologic testing disclosed multifocal sensorimotor polyneuropathy with slowing of sensory conduction velocities in both cases, which prompted PMP 22 gene deletion testing...
December 2016: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/27834763/acquired-von-willebrand-syndrome-an-under-recognized-cause-of-major-bleeding-in-the-cardiac-intensive-care-unit
#2
Melissa B Jones, Karthik Ramakrishnan, Fahad A Alfares, Kendal M Endicott, Gary Oldenburg, John T Berger, Venkat Shankar, Dilip S Nath, Yaser A Diab
BACKGROUND: Acquired von Willebrand syndrome (AvWS) in the setting of congenital heart disease is an under-recognized cause of bleeding in the pediatric cardiac critical care unit. METHODS: Fourteen patients diagnosed with AvWS admitted to the cardiac intensive care unit at the Children's National Health System between December 2009 and September 2015 were identified with subsequent chart review and case analysis. RESULTS: Of the 14 patients included in this study, 4 patients were on ventricular-assist devices, 6 patients were on extracorporeal membrane oxygenation, and 4 were patients with congenital heart disease not receiving any mechanical circulatory support...
November 2016: World Journal for Pediatric & Congenital Heart Surgery
https://www.readbyqxmd.com/read/27775286/-cricopharyngeal-achalasia-diagnosis-and-therapeutic-alternatives
#3
P Rodríguez Iglesias, V Ibáñez Pradas, A Alamar Velázquez, I Ibáñez Alcañiz, M Couselo Jerez
INTRODUCTION: The cricopharyngeal achalasia is an esophageal motor disorder that entails a lack of relaxation of the upper esophageal sphincter. It is rare in children and its etiology is related to multiple factors. The symptoms are nonspecific and may be masked by other diseases. CLINICAL CASE: Report two infants with dysphagia and choking episodes. Upper gastrointestinal series confirmed cricopharyngeal achalasia. The first patient was treated with endoscopic dilatation, and did not require further therapies...
April 15, 2015: Cirugía Pediátrica: Organo Oficial de la Sociedad Española de Cirugía Pediátrica
https://www.readbyqxmd.com/read/27770153/traumatic-diaphragmatic-rupture-in-pediatric-age-review-of-the-literature
#4
F Marzona, N Parri, A Nocerino, M Giacalone, E Valentini, S Masi, L Bussolin
PURPOSE: Traumatic diaphragm rupture (TDR) is a rare complication of trauma in pediatric age and may be easily missed by the severity of associated injuries so that delayed emergent presentation can occur with increased rate of morbidity and mortality. No review has been available to guide clinicians through the pitfalls and the initial diagnostic approach to pediatric TDR. METHODS: A Medline thorough search on TDR was conducted using different queries. English language citations were identified during the period of January 2000 through December 2014 limiting the search to pediatric age (0-18 years)...
October 21, 2016: European Journal of Trauma and Emergency Surgery: Official Publication of the European Trauma Society
https://www.readbyqxmd.com/read/27726271/pathways-to-reduce-diabetic-ketoacidosis-with-new-onset-type-1-diabetes-evidence-from-a-regional-pediatric-diabetes-center-auckland-new-zealand-2010-to-2014
#5
Eleanor R Gunn, Benjamin B Albert, Paul L Hofman, Wayne S Cutfield, Alistair J Gunn, Craig A Jefferies
BACKGROUND: There has been little change in the incidence of diabetic ketoacidosis (DKA) in newly diagnosed type 1 diabetes mellitus (T1DM) in children and adolescents in most developed countries. OBJECTIVES: To assess potentially modifiable antecedents of DKA in children <15 years of age with new onset T1DM. METHODS: Retrospective review of prospectively collected data from a complete regional cohort of children with T1DM in Auckland (New Zealand) from 2010 to 2014...
October 11, 2016: Pediatric Diabetes
https://www.readbyqxmd.com/read/27660720/coexistence-of-a-ghon-complex-pott-s-disease-and-hip-arthritis-in-a-child
#6
Ozgul Yigit, Meltem Erol, Ozlem Bostan Gayret, Isıl Ustun, Selami Ulas
INTRODUCTION: Tuberculosis remains a major public health problem in developing countries. Diagnosing extrapulmonary tuberculosis can be difficult, as it requires a higher index of suspicion than primary tuberculosis. Extrapulmonary tuberculosis may mimic malignancies and many other diseases, so it should be included in the differential diagnosis. Here, we present a case of extrapulmonary tuberculosis associated with Pott's disease and hip arthritis in a patient who recovered after 12 months of antituberculosis therapy...
July 2016: Iranian Red Crescent Medical Journal
https://www.readbyqxmd.com/read/27630456/prevalence-and-risk-factors-of-pneumothorax-among-patients-admitted-to-a-pediatric-intensive-care-unit
#7
Ahmed Ahmed El-Nawawy, Amina Sedky Al-Halawany, Manal Abdelmalik Antonios, Reem Gamal Newegy
OBJECTIVE: Pneumothorax should be considered a medical emergency and requires a high index of suspicion and prompt recognition and intervention. AIMS: The objective of the study was to evaluate cases developing pneumothorax following admission to a Pediatric Intensive Care Unit (PICU) over a 5-year period. SETTINGS AND DESIGN: Case notes of all PICU patients (n = 1298) were reviewed, revealing that 135 cases (10.4%) developed pneumothorax, and these were compared with those patients who did not...
August 2016: Indian Journal of Critical Care Medicine
https://www.readbyqxmd.com/read/27497399/chiari-malformations-an-important-cause-of-pediatric-aspiration
#8
Jennifer C Fuller, Sumi Sinha, Paul A Caruso, Cheryl J Hersh, William E Butler, Kalpathy S Krishnamoorthy, Christopher J Hartnick
Chronic aspiration poses a major health risk to the pediatric population. We describe four cases in which work up for chronic aspiration with a brain MRI revealed a Chiari I malformation, a poorly described etiology of pediatric aspiration. All patients had at least one non-specific neurologic symptom but had swallow studies more characteristic of an anatomic than a neurologic etiology. Patients were referred to neurosurgery and underwent posterior fossa decompression with symptom improvement. A high index of suspicion for Chiari malformation should be maintained when the standard work up for aspiration is non-diagnostic, particularly when non-specific neurologic symptoms are present...
September 2016: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/27473652/vitamin-b12-deficiency-presenting-with-neurological-dysfunction-in-an-adolescent
#9
Coral M Stredny, Olivia Frosch, Samata Singhi, Elissa Furutani, Adam D Durbin, Rachael F Grace, Nicole J Ullrich
BACKGROUND: Vitamin B12 deficiency is classically encountered in the adult Caucasian population and manifests as a subacute combined degeneration in the presence or absence of macrocytic anemia. However, B12 deficiency is extremely rare in children in developed countries, and pernicious anemia is even rarer etiology of this deficiency. The clinical presentation of B12 deficiency in children is not as easily recognizable or well-characterized and may result in missed or delayed diagnosis...
September 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27467294/pediatric-temporal-bone-rhabdomyosarcoma
#10
Monica J Goldberg
Rhabdomyosarcoma is one of the most common soft-tissue sarcomas in children. Prompt diagnosis and treatment significantly improve survival; however, misdiagnosis is common because of this aggressive temporal bone lesion's similarity to more common benign diseases. Clinicians should maintain a high index of suspicion for rhabdomyosarcoma in patients with a presumed otologic infection not responsive to medical therapy.
August 2016: JAAPA: Official Journal of the American Academy of Physician Assistants
https://www.readbyqxmd.com/read/27457792/hepatotoxicity-induced-by-acute-and-chronic-paracetamol-overdose-in-children-where-do-we-stand
#11
Hoi Yan Tong, Nicolás Medrano, Alberto Manuel Borobia, José Antonio Ruiz, Ana María Martínez, Julia Martín, Manuel Quintana, Santos García, Antonio José Carcas, Elena Ramírez
BACKGROUND: There are few data on hepatotoxicity induced by acute or chronic paracetamol poisoning in the pediatric population. Paracetamol poisoning data can reveal the weaknesses of paracetamol poisoning management guidelines. METHODS: We retrospectively studied the patients of less than 18 years old with measurable paracetamol levels, who were brought to the emergency department (ED) of La Paz University Hospital, Madrid, Spain, for suspected paracetamol overdoses between 2005 and 2010...
July 23, 2016: World Journal of Pediatrics: WJP
https://www.readbyqxmd.com/read/27397412/haemophagocytic-lymphohistiocytosis-presenting-as-neonatal-liver-failure-a-case-series
#12
Hala Abdullatif, Nabil Mohsen, Rokaya El-Sayed, Fatma El-Mougy, Hanaa El-Karaksy
BACKGROUND AND STUDY AIM: Haemophagocytic lymphohistiocytosis (HLH) is a life-threatening clinical syndrome with liver involvement varying from mild dysfunction to severe fulminant failure. The aim of this study was to present a case series of four HLH patients presenting with acute liver failure (ALF) in the neonatal period. PATIENTS AND METHODS: All four patients were neonates at the onset of symptoms. They presented to Cairo University Pediatric Hospital with ALF; they underwent prompt investigations including determination of ferritin, fibrinogen, and triglyceride levels as part of our ALF workup...
June 2016: Arab Journal of Gastroenterology: the Official Publication of the Pan-Arab Association of Gastroenterology
https://www.readbyqxmd.com/read/27355085/-clinical-triad-findings-in-pediatric-klippel-feil-patients
#13
Dino Samartzis, Prakasam Kalluri, Jean Herman, John P Lubicky, Francis H Shen
BACKGROUND: It has been propagated that patients with Klippel-Feil syndrome (KFS) exhibit "clinical triad" findings (CTFs), known as a short neck, low posterior hairline, and limited cervical range of motion (ROM). However, the literature has noted that up to 50 % of KFS cases may not present with such findings and the reasoning behind such assertions remains speculative. As such, the following study addressed the association between CTFs to that of congenitally-fused cervical segments and other risk factors in KFS patients...
2016: Scoliosis and Spinal Disorders
https://www.readbyqxmd.com/read/27339455/laryngeal-inflammatory-myofibroblastic-tumor-imt-a-case-report-and-review-of-the-literature
#14
Sok Yan Tay, Abhilash Balakrishnan
BACKGROUND: This case report is interesting as cases of children with laryngeal inflammatory myofibroblastic tumor are not common and previously had been presented as isolated case reports. This is the first case report in Asia describing a laryngeal inflammatory myofibroblastic tumor and its removal using an endoscopic approach. CASE PRESENTATION: Our patient is a 12-year-old Malay girl from Singapore who presented with hoarseness without respiratory distress. The initial impression was that of a granuloma or a papilloma...
2016: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/27275268/fulminate-hepatic-failure-in-a-5-year-old-female-after-inappropriate-acetaminophen-treatment
#15
Irena Kasmi, Sashenka Sallabanda, Gentian Kasmi
BACKGROUND: Acetaminophen is a drug widely used in children because of its safety and efficacy. Although the risk of its toxicity is lower in children such reactions occur in pediatric patients from intentional overdoses and less frequently attributable to unintended inappropriate dosing. The aim of reporting this case is to attract the attention to the risk of the acetaminophen toxicity when administered in high doses. CASE PRESENTATION: We report here a 5 year old girl who developed fulminate liver failure with renal impairment and acute pancreatitis, as a result of acetaminophen toxicity caused from unintentional repeated supratherapeutic ingestion, with a total administered dose of 4800 mg in three consecutive days, 1600 mg/day, approximately 90 mg/kg/day...
September 15, 2015: Open Access Macedonian Journal of Medical Sciences
https://www.readbyqxmd.com/read/27274637/cd30-positive-anaplastic-lymphoma-kinase-negative-systemic-anaplastic-large-cell-lymphoma-in-a-9-year-old-boy
#16
Jeong Eun Kim, Eui Hyun Oh, Young Suck Ro, Joo Yeon Ko
Anaplastic large-cell lymphoma (ALCL) is a CD30-positive T-cell/null-cell lymphoma that is clinically classified into either primary cutaneous ALCL or systemic ALCL (S-ALCL) sub-types. Because 90% of childhood S-ALCL cases are anaplastic lymphoma kinase (ALK)-positive, there is a lack of data on ALK-negative S-ALCL cases among pediatric patients. Herein, we report a rare case of ALK-negative S-ALCL in a 9-year-old Korean boy who initially presented with itchy erythematous maculopapules and an erosive nodule on the trunk area...
June 2016: Annals of Dermatology
https://www.readbyqxmd.com/read/27268012/the-parkland-burn-center-experience-with-297-cases-of-child-abuse-from-1974-to-2010
#17
Erica I Hodgman, Rachel A Pastorek, Melody R Saeman, Michael W Cripps, Ira H Bernstein, Steven E Wolf, Karen J Kowalske, Brett D Arnoldo, Herb A Phelan
INTRODUCTION: Pediatric burns due to abuse are unfortunately relatively common, accounting for 5.8-8.8% of all cases of abuse annually. Our goal was to evaluate our 36-year experience in the evaluation and management of the victims of abuse in the North Texas area. METHODS: A prospectively maintained database containing records on all admissions from 1974 through 2010 was queried for all patients aged less than 18 years. Patients admitted for management of a non-burn injury were excluded from the analysis...
August 2016: Burns: Journal of the International Society for Burn Injuries
https://www.readbyqxmd.com/read/27267019/hemostasis-in-airway-surgery-adult-and-pediatric
#18
REVIEW
Diego A Preciado
Surgical bleeding is an unlikely, but potentially devastating, event during the surgical management of pediatric and adult laryngotracheal disorders. Therefore, an intimate knowledge of the anatomy of the large vessels coursing in the vicinity of the airway is imperative. Anatomic variants in the position of the inominate artery or the superior thyroid artery can place individuals with these variations at particular risk in these cases. Delayed bleeding from an inominate artery fistula is a particularly devastating complication from open airway surgery...
June 2016: Otolaryngologic Clinics of North America
https://www.readbyqxmd.com/read/27261953/streptococcus-constellatus-tubo-ovarian-abscess-in-a-non-sexually-active-adolescent-female
#19
David Mills, Bazak Sharon, Kari Schneider
Tubo-ovarian abscess (TOA) in non-sexually active female adolescents is a rare presentation to the pediatric emergency department. In the following case, bilateral TOA secondary to Streptococcus constellatus was diagnosed in a 13-year-old virginal female. The patient was seen 4 months before presentation for interventional radiology-guided drainage and antibiotic treatment for an intra-abdominal abscess due to suspected appendiceal rupture. Exploratory laparotomy on the most recent presentation demonstrated an appendix with inflammation and serositis on pathology report, a concern for chronic appendicitis with microperforation and subsequent bacterial translocation of the bilateral ovaries...
June 2, 2016: Pediatric Emergency Care
https://www.readbyqxmd.com/read/27260610/post-transplant-lymphoproliferative-disorder-of-the-pediatric-airway-presentation-and-management
#20
REVIEW
Allison F O'Neill, Eelam A Adil, Alexandria L Irace, Laura Neff, Ian J Davis, Antonio R Perez-Atayde, Stephan D Voss, Olga Weinberg, Reza Rahbar
OBJECTIVE: Post-transplant lymphoproliferative disorder (PTLD) is a rare complication of immunosuppression with little consensus on its evaluation and management. The purpose of this contemporary review is to describe a pediatric patient with PTLD of the airway and review the literature to provide multidisciplinary recommendations regarding management. DATA SOURCES: Retrospective chart and literature review. REVIEW METHODS: A pediatric patient with PTLD of the airway is described...
July 2016: International Journal of Pediatric Otorhinolaryngology
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