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https://www.readbyqxmd.com/read/27922249/severe-hyperphosphatemia-after-oral-laxative-administration-in-a-7-year-old-patient
#1
Çağlar Ödek, Tanıl Kendirli, Ayhan Yaman, Eda Didem Kurt-Şükür, Onur Telli, Berk Burgu, Z Birsin Özçakar
Sodium phosphate based laxatives are commonly used for constipation and pre-procedural bowel cleansing. Phosphate intoxication related with these preparations is well recognized. Herein, we present a case of severe hyperphosphatemia and seizure in a 7-year-old male patient after administration of an oral sodium phosphate based laxative. At the time of admission, serum phosphorus level was 25.6 mg/dl. Aggressive fluid therapy was started. Although serum phosphorus level decreased to 20.9 mg/dl eight hours after admission, hemodialysis was performed because of the preexisting renal disease and declined glomerular filtration rate...
2016: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27922244/a-novel-de-novo-mutation-involving-the-mll2-gene-in-a-kabuki-syndrome-patient-presenting-with-seizures
#2
Can Ebru Bekircan-Kurt, Pelin Özlem Şimşek-Kiper, Koray Boduroğlu, Neşe Dericioğlu
Kabuki syndrome is a rare multiple congenital anomaly disorder. Although mental retardation is one of the main features, various neurological symptoms such as hypotonia and seizures can occur. Here we report on a 18-year-old Turkish male patient who was diagnosed previously as Kabuki syndrome. Molecular genetic analysis showed a novel de novo heterozygous mutation (c.12964C > T [p.Gln4322*] ) in the MLL2 gene, that leads to the synthesis of a truncated protein. The aim of the present report is to increase the awareness of Kabuki Syndrome among adult neurologists and to present a previously unreported non-sense mutation in the MLL2 gene...
2016: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27922243/late-diagnosed-phenylketonuria-in-an-eight-year-old-boy-with-dyslexia-and-attention-deficit-hyperactivity-disorder
#3
Yılmaz Yıldız, Ali Dursun, Ayşegül Tokatlı, Turgay Coşkun, Hatice Serap Sivri
Phenylketonuria, previously a common cause of severe intellectual disability, is a metabolic disorder now promptly diagnosed and effectively treated thanks to newborn screening programs. Here, we report a male patient presenting with dyslexia and attention-deficit hyperactivity disorder, who was diagnosed with mild phenylketonuria at eight years of age. Earlier recognition and treatment before the establishment of irreversible brain damage would have resulted in better neurobehavioural outcomes. Classical phenylketonuria and milder phenotypes of phenylalanine hydroxylase deficiency need to be considered in the differential diagnosis of all cognitive and behavioural problems of unknown cause...
2016: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27922241/an-unusual-case-of-neuroblastoma-a-17-year-old-adolescent-presented-with-bilateral-diffuse-lung-metastasis-at-initial-diagnosis
#4
Çağlar Ödek, Tanıl Kendirli, Esra Pekpak, Ayhan Yaman, Başak Adaklı-Aksoy, Handan Dinçaslan, Nurdan Taçyıldız, Emel Ünal, Erdal İnce, Gülsan Yavuz
Neuroblastoma (NB) is the most frequently diagnosed neoplasm during infancy and its incidence declines within the first 3-5 years of life. It can be rarely diagnosed in adolescents and young adults. Adolescents have advanced stage of disease, higher frequency of uncommon metastatic sites such as lungs, and worse outcomes. Herein, we describe an unusual case of NB in a 17-year-old adolescent presented with lung metastasis at diagnosis. The patient was diagnosed with stage IV NB. Thorax high-resolution computed tomography (HRCT) scan revealed irregular septal thickening with ground glass opacity consistent with pulmonary parenchymal metastases...
2016: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27922235/high-frequency-of-pertussis-in-older-children-and-adolescents-with-prolonged-cough-in-turkey
#5
Aslı Aslan, Zafer Kurugöl, Şöhret Aydemir, Derya Gürsel, Güldane Koturoğlu
This study aimed to determine the frequency of B. pertussis infection among Turkish children with prolonged cough. Nasopharyngeal specimens were collected from 7-18 year old children, presenting with prolonged cough of two to four weeks' duration. Specimens were examined for B. pertussis by PCR. Of 101 children with prolonged cough, 20 (19.8%) had a positive PCR testing for B. pertussis. Children who were vaccinated ≥5 years previously had a 6.13-fold higher risk of PCR-confirmed pertussis than those who were vaccinated < 5 years before...
2016: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27922126/viral-and-bacterial-co-infection-in-severe-pneumonia-triggers-innate-immune-responses-and-specifically-enhances-ip-10-a-translational-study
#6
Jonathan Hoffmann, Daniela Machado, Olivier Terrier, Stephane Pouzol, Mélina Messaoudi, Wilma Basualdo, Emilio E Espínola, Rosa M Guillen, Manuel Rosa-Calatrava, Valentina Picot, Thomas Bénet, Hubert Endtz, Graciela Russomando, Gláucia Paranhos-Baccalà
Mixed viral and bacterial infections are widely described in community-acquired pneumonia; however, the clinical implications of co-infection on the associated immunopathology remain poorly studied. In this study, microRNA, mRNA and cytokine/chemokine secretion profiling were investigated for human monocyte-derived macrophages infected in-vitro with Influenza virus A/H1N1 and/or Streptococcus pneumoniae. We observed that the in-vitro co-infection synergistically increased interferon-γ-induced protein-10 (CXCL10, IP-10) expression compared to the singly-infected cells conditions...
December 6, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27922125/an-er%C3%AE-agonist-induces-browning-of-subcutaneous-abdominal-fat-pad-in-obese-female-mice
#7
Yi-Fei Miao, Wen Su, Yu-Bing Dai, Wan-Fu Wu, Bo Huang, Rodrigo P A Barros, Hao Nguyen, Laure Maneix, You-Fei Guan, Margaret Warner, Jan-Åke Gustafsson
Estrogen, via estrogen receptor alpha (ERα), exerts several beneficial effects on metabolism and energy homeostasis by controlling size, enzymatic activity and hormonal content of adipose tissue. The actions of estrogen on sympathetic ganglia, which are key players in the browning process, are less well known. In the present study we show that ERβ influences browning of subcutaneous adipose tissue (SAT) via its actions both on sympathetic ganglia and on the SAT itself. A 3-day-treatment with a selective ERβ agonist, LY3201, induced browning of SAT in 1-year-old obese WT and ERα(-/-) female mice...
December 6, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27922025/water-exchange-method-significantly-improves-adenoma-detection-rate-a-multicenter-randomized-controlled-trial
#8
Hui Jia, Yanglin Pan, Xuegang Guo, Lina Zhao, Xiangping Wang, Linhui Zhang, Tao Dong, Hui Luo, Zhizheng Ge, Jun Liu, Jianyu Hao, Ping Yao, Yao Zhang, Hongyu Ren, Weizhen Zhou, Yujie Guo, Wei Zhang, Xiaolin Chen, Dayong Sun, Xiaoqiang Yang, Xiaoyu Kang, Na Liu, Zhiguo Liu, Felix Leung, Kaichun Wu, Daiming Fan
OBJECTIVES: Adenoma detection rate (ADR) is a key colonoscopy quality indicator in Western clinical literature. Our low ADR prompted us to assess novel methods to improve performance. Western retrospective reports suggested that water exchange (WE) could increase ADR. However, most of these studies used pain score or intubation rate as the primary outcome. Here we test the hypothesis that WE significantly increases ADR among Chinese colonoscopists and design a prospective randomized controlled trial using ADR as our primary outcome...
December 6, 2016: American Journal of Gastroenterology
https://www.readbyqxmd.com/read/27921322/the-heterophoria-of-3-5-year-old-children-as-a-function-of-viewing-distance-and-target-type
#9
Mary E Troyer, Vidhyapriya Sreenivasan, T J Peper, T Rowan Candy
PURPOSE: Heterophoria is the misalignment of the eyes in monocular viewing and represents the accuracy of vergence driven by all classical cues except disparity. It is challenging to assess restless children using clinical cover tests, and phoria in early childhood is poorly understood. Here we used eye tracking to assess phoria as a function of viewing distance and target in adults and young children, with comparison to clinical cover tests. METHODS: Purkinje image tracking (MCS PowerRefractor) was used to record eye alignment in adults (19-28 years, N = 24) and typically developing children (3-5 years, N = 24)...
December 5, 2016: Ophthalmic & Physiological Optics: the Journal of the British College of Ophthalmic Opticians (Optometrists)
https://www.readbyqxmd.com/read/27921301/a-very-unusual-accidental-mechanical-asphyxia-of-choking-with-a-whole-solea-solea
#10
Francesco Paolo Busardò, Giulio Mannocchi, Paola Pugnetti, Alessandro Santurro, Aldo Maggiordomo, Simona Zaami
The case here reported involves a schizophrenic 19-year-old girl under treatment with clotiapine, which was well tolerated except for a moderate dry mouth. The woman ingested a whole sole (Solea solea), which caused a very rapid death by choking. A complete autopsy was performed 24 h later, as well as histological and toxicological analysis. At autopsy, the sole was wedged in the esophagus causing a choking ab extrinseco. The fish had a length of 18 cm and a maximum width of 6 cm, weighing 188.7 g. Toxicological analysis detected 0...
December 6, 2016: Journal of Forensic Sciences
https://www.readbyqxmd.com/read/27921278/bronchobiliary-fistula-caused-after-hepatectomy-for-hepatocellular-carcinoma-a-case-report
#11
Seikan Hai, Yuji Iimuro, Tadamichi Hirano, Kazuhiro Suzumura, Akito Yada, Jiro Fujimoto
BACKGROUND: A bronchobiliary fistula, an intercommunication between the biliary tract and bronchial trees, is an extremely rare complication after hepatectomy. CASE PRESENTATION: A 70-year-old male underwent partial resection of the liver for recurrent hepatocellular carcinoma under a thoracoabdominal approach. The immediate postoperative clinical course was uneventful, but the patient was febrile and laboratory examinations revealed leukocytosis on the 15th postoperative day...
December 2016: Surgical Case Reports
https://www.readbyqxmd.com/read/27921277/surgery-for-acute-exacerbation-of-chronic-mesenteric-ischemia-a-case-report
#12
Shinji Abe, Tomoji Yamakawa, Hideaki Kawashima, Makoto Yoshida, Setsuji Takanashi, Motoya Kashiyama, Masahiro Ishigooka, Yasushige Shingu, Yoshiro Matsui
BACKGROUND: Chronic mesenteric ischemia (CMI) is a rare disease; however, symptomatic CMI has a risk of acute exacerbation without timely revascularization. CASE PRESENTATION: A 54-year-old man who had had postprandial pain for 6 months was admitted to our hospital because of vomiting and diarrhea. Although the celiac and superior mesenteric arteries were occluded at the proximal portion, contrast enhancement of the bowel wall was good in contrast-enhanced computed tomography (CECT)...
December 2016: Surgical Case Reports
https://www.readbyqxmd.com/read/27921269/graded-structure-in-sexual-definitions-categorizations-of-having-had-sex-and-virginity-loss-among-homosexual-and-heterosexual-men-and-women
#13
Ava D Horowitz, Edward Bedford
Definitions of sexual behavior display a robust hierarchy of agreement regarding whether or not acts should be classed as, for example, sex or virginity loss. The current research offers a theoretical explanation for this hierarchy, proposing that sexual definitions display graded categorical structure, arising from goodness of membership judgments. Moderation of this graded structure is also predicted, with the focus here on how sexual orientation identity affects sexual definitions. A total of 300 18- to 30-year-old participants completed an online survey, rating 18 behaviors for how far each constitutes having "had sex" and virginity loss...
December 5, 2016: Archives of Sexual Behavior
https://www.readbyqxmd.com/read/27921213/pediatric-intracranial-primary-anaplastic-ganglioglioma
#14
Wolf Lüdemann, Rouzbeh Banan, Christian Hartmann, Helmut Bertalanffy, Concezio Di Rocco
BACKGROUND: Primary intracranial anaplastic gangliogliomas are rare tumors in the pediatric patient group. Most of them present with symptoms of elevated pressure or symptomatic epilepsy. Extraaxial location is far more common than axial location. On MRI examination, they mimic pilocytic astrocytomas. The outcome after surgery depends mainly on the possible amount of surgical resection, and oncological therapy is necessary to prevent recurrence of the disease. CASE REPORT: An 11-year-old boy presented with headache and double vision due to obstructive hydrocephalus...
December 5, 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/27921205/consistent-pattern-in-positional-instability-of-polyfocal-full-optics-accommodative-iol
#15
Yu Cheol Kim, Kyung Tae Kang, Youngdo Yeo, Ki-San Kim, Frank S Siringo
PURPOSE: We describe cases of dislocation or subluxation of the WIOL-CF(®) polyfocal full-optics intraocular lens (IOL) and suggest a consistent pattern and possible mechanism for the IOL instability. METHODS: This is a retrospective case series of five consecutive eyes in three patients with WIOL-CF(®) IOL instability at Keimyung University Dongsan Medical Center and Kimkisan Eye Center from 2012 to 2014. The medical records and ocular exam data for these patients were analyzed...
December 5, 2016: International Ophthalmology
https://www.readbyqxmd.com/read/27921204/a-case-of-double-depressor-palsy-followed-by-pursuit-deficit-due-to-sequential-infarction-in-bilateral-thalamus-and-right-medial-superior-temporal-area
#16
Su Jin Kim, Myeong In Yeom, Seung Uk Lee
BACKGROUND: We present a unique case of a patient who suffered two rare events affecting the supranuclear control, first of the vertical and second of the horizontal eye movements. The first event involved bilateral thalamic infarcts that resulted in double depressor palsy. The second event occurred 1 year later and it involved supranuclear control of horizontal eye movements creating pursuit deficit. CASE PRESENTATION: A 47-year-old male presented with complaints of diplopia upon awakening...
December 5, 2016: International Ophthalmology
https://www.readbyqxmd.com/read/27921164/m-type-phospholipase-a2-receptor-pla2r-glomerular-staining-in-pediatric-idiopathic-membranous-nephropathy
#17
Shoichiro Kanda, Shigeru Horita, Takeshi Yanagihara, Akira Shimizu, Motoshi Hattori
BACKGROUND: Identifying M-type phospholipase A2 receptor (PLA2R) is a landmark breakthrough for understanding adult idiopathic membranous nephropathy (iMN). However, potential roles for PLA2R in pediatric iMN have not been well investigated. METHODS: A total of 34 pediatric iMN patients who underwent kidney biopsy between 1972 and 2015 were enrolled in this study. The study cohort consisted of 15 children aged from 3 to 9 years and 19 aged from 10 to 15 years...
December 5, 2016: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/27921149/a-case-of-urticarial-vasculitis-in-a-female-patient-with-lupus-mycoplasma-pneumoniae-infection-or-lupus-reactivation
#18
Mario Diplomatico, Maria Francesca Gicchino, Orsola Ametrano, Pierluigi Marzuillo, Alma Nunzia Olivieri
A 17-year-old female patient affected by systemic lupus erythematosus (SLE) (who had been taking 300 mg/die of hydroxychloroquine for 3 years), Graves' disease (treated with 10 mg/die of tapazole), and celiac disease came to our attention for urticarial vasculitis. She had been taking prednisone (25 mg/die) for 3 days, and her blood tests showed high levels of Mycoplasma pneumoniae IgM and IgG antibodies. The association between urticaria and M. pneumoniae infections can be present in up to 7% of the cases and, to the best of our knowledge, only two reports of urticarial vasculitis and M...
December 5, 2016: Rheumatology International
https://www.readbyqxmd.com/read/27921132/-differential-diagnosis-of-juvenile-normal-pressure-glaucoma
#19
K Geidel, P Wiedemann, J D Unterlauft
The case of a 50-year-old female patient with autosomal dominant optic atrophy is described, which was initially misinterpreted and treated as normal pressure glaucoma. Bilateral partial optic atrophy can be diagnosed by chance with mild manifestation of symptoms and can initially be misinterpreted as glaucoma. Taking a detailed medical history and performing a thorough optic nerve head examination can raise the suspicion of hereditary optic atrophy. The reliable detection of autosomal dominant optic atrophy by genetic investigations should be strived for in such cases...
December 5, 2016: Der Ophthalmologe: Zeitschrift der Deutschen Ophthalmologischen Gesellschaft
https://www.readbyqxmd.com/read/27921126/successful-ct-guided-cryoablation-of-phosphaturic-mesenchymal-tumor-in-the-soft-tissues-causing-tumor-induced-osteomalacia-a-case-report
#20
Sophie Cowan, Santiago A Lozano-Calderon, Raul N Uppot, Dipti Sajed, Ambrose J Huang
We report the case of a 25-year-old male patient with tumor-induced osteomalacia from a 1.8-cm phosphaturic mesenchymal tumor in the right distal thigh, who was treated at our institution with a single session of CT-guided cryoablation in December 2015, which resulted in biochemical and clinical resolution. We present the clinical history, physical examination, biochemistry, functional imaging, anatomic characterization, and follow-up for clinical outcome. The response to treatment was documented in terms of normalization of serum fibroblastic growth factor 23 (FGF23) and phosphorous levels, symptomatic improvement, as well as normalization of bone mineralization on femur radiographs 3 months after the procedure...
December 5, 2016: Skeletal Radiology
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