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https://www.readbyqxmd.com/read/29153459/-intrafamilial-disruptive-behaviour-disorders-in-children-and-adolescents-present-data-and-treatment-prospects
#1
E Bousquet, N Franc, C Ha, D Purper-Ouakil
Child-to-parent violence is a form of family violence that is still a well-kept secret. Abused parents can be victims of different types of abuse. Children can use both physical and psychological violence such as financial threats to take control of the home. In this situation, parents often no longer dare to contradict their children by fear of triggering uncontrollable violence. Although the phenomenon recently drew the attention of the media, there is still little knowledge about its prevalence and clinical characteristics...
November 16, 2017: L'Encéphale
https://www.readbyqxmd.com/read/29150892/expanding-the-neurodevelopmental-phenotype-of-pura-syndrome
#2
Bo Hoon Lee, Margot R F Reijnders, Oluwatobi Abubakare, Emily Tuttle, Brynn Lape, Kelly Q Minks, Christopher Stodgell, Loisa Bennetto, Jennifer Kwon, Chin-To Fong, Karen W Gripp, Eric D Marsh, Wendy E Smith, Ahm M Huq, Stephanie A Coury, Wen-Hann Tan, Orestes Solis, Rupal I Mehta, Richard J Leventer, Diana Baralle, David Hunt, Alex R Paciorkowski
PURA syndrome is a recently described developmental encephalopathy presenting with neonatal hypotonia, feeding difficulties, global developmental delay, severe intellectual disability, and frequent apnea and epilepsy. We describe 18 new individuals with heterozygous sequence variations in PURA. A neuromotor disorder starting with neonatal hyptonia, but ultimately allowing delayed progression to walking, was present in nearly all individuals. Congenital apnea was present in 56% during infancy, but all cases in this cohort resolved during the first year of life...
November 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29149870/first-case-report-of-cohen-syndrome-in-the-tunisian-population-caused-by-vps13b-mutations
#3
Imen Rejeb, Houweyda Jilani, Yasmina Elaribi, Syrine Hizem, Lamia Hila, Julia Lauer Zillahrdt, Jamel Chelly, Lamia Benjemaa
BACKGROUND: Cohen syndrome is a rare autosomal recessive developmental disorder that comprises variable clinical features counting developmental delay, pigmentary retinopathy, myopia, acquired microcephaly, truncal obesity, joint hypermobility, friendly disposition and intermittent neutropenia. VPS13B (vacuolar protein sorting 13, yeast, homologue of B) gene is the only gene responsible for Cohen Syndrome, causative mutations include nonsense, missense, indel and splice-site variants...
November 17, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29147883/clinical-and-radiological-diagnosis-of-gallstone-ileus-a-mini-review
#4
Liisa Chang, Minna Chang, Hanna M Chang, Aina I Chang, Fuju Chang
Gallstone ileus is a rare cause of bowel obstruction, which mainly affects the elderly population. The associated mortality is estimated to be up to 30%. The presentation of gallstone ileus is notoriously non-specific, and this often contributes to the delay in diagnosis. The diagnosis of gallstone ileus relies on a radiological approach, and herein we discuss the benefits and drawbacks of the use of different modalities of radiological imaging: plain abdominal films, computed tomography, magnetic resonance imaging, and ultrasound scanning...
November 16, 2017: Emergency Radiology
https://www.readbyqxmd.com/read/29147600/osteoglophonic-dysplasia-phenotypic-and-radiological-clues
#5
Shwetha Kuthiroly, Dhanya Yesodharan, Aneesh Ghosh, Kenneth E White, Sheela Nampoothiri
Osteoglophonic dysplasia (OD) is an extremely rare, skeletal dysplasia with an autosomal dominant mode of inheritance. Rhizomelic dwarfism, craniosynostosis, impacted teeth, hypodontia or anodontia, and multiple nonossifying bone lesions are the salient features of this condition. We report a 14-year-old girl with clinical and radiological features consistent with OD. She presented with disproportionate short stature, craniosynostosis, a prominent supraorbital ridge, delayed teeth eruption, hypodontia, and multiple nonossifying bone lesions in the femur, tibia, and fibula...
December 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29147593/rapidly-progressive-disseminated-sporotrichosis-as-the-first-presentation-of-hiv-infection-in-a-patient-with-a-very-low-cd4-cell-count
#6
Isis Cristine Morávia Ribeiro de Oliveira-Esteves, Guilherme Almeida Rosa da Silva, Walter de Araujo Eyer-Silva, Rodrigo Panno Basílio-de-Oliveira, Luciana Ferreira de Araujo, Carlos José Martins, Rogério Neves-Motta, Marcelo Costa Velho Mendes de Azevedo, Dario José Hart Pontes Signorini, Jorge Francisco da Cunha Pinto, Lívia Machado Moura, Rafael Jacyntho Laterça, Diogo Raphael Garcia de Oliveira Pereira, Isabela Vieira do Lago, Fernando Raphael de Almeida Ferry
Sporotrichosis is a human and animal disease caused by species of the Sporothrix schenckii complex. It is classically acquired through traumatic inoculation of fungal elements. Most frequently, sporotrichosis presents as a fixed cutaneous or as a lymphocutaneous form. A much smaller number of cases occur as cutaneous disseminated and disseminated forms. These cases require immediate diagnosis and management to reduce morbidity and mortality. We present the case of a 34-year-old male patient in whom the first presentation of HIV infection was a rapidly progressive sporotrichosis with multiple cutaneous lesions, a high fungal burden in tissues, and pulmonary involvement...
2017: Case Reports in Infectious Diseases
https://www.readbyqxmd.com/read/29147571/a-surprising-treatment-response-in-a-patient-with-rare-isolated-growth-hormone-deficiency-type-ib
#7
Jordan Yardain Amar, Kimberly Borden, Elizabeth Watson, Talin Arslanian
Isolated Growth Hormone Deficiency (IGHD) is a rare cause of short stature, treated with the standard regimen of subcutaneous synthetic growth hormone (GH). Patients typically achieve a maximum height velocity in the first year of treatment, which then tapers shortly after treatment is stopped. We report a case of a 9-year-old male who presented with short stature (<3rd percentile for age and race). Basal hormone levels showed undetectable serum IGF1. Skeletal wrist age was consistent with chronologic age...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/29145287/transforaminal-endoscopy-in-lumbar-burst-fracture-a-case-report
#8
Yuanyi Wang, Cong Ning, Liyu Yao, Xiuying Huang, Chengliang Zhao, Bin Chen, Nan Zhang
RATIONALE: Lumbar burst fractures are frequent injury resulting from high-energy trauma, and the patients suffer from pain and the neurologic dysfunction. Although minimally invasive techniques have advanced rapidly, it was the first time to apply transforaminal endoscopic combined with percutaneous pedicle screw fixation to treatment of lumbar burst fractures. PATIENT CONCERNS: A 33-year-old man underwent Magerl type A3.1 burst fracture at L2 and compression fractures at L3 due to falling from a height with severe lower back pain, sensory loss, and atony of the right leg...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29140387/full-mouth-rehabilitation-with-calvarium-bone-grafts-and-dental-implants-for-a-papillon-lef%C3%A3-vre-syndrome-patient-case-report
#9
Bassam M Kinaia, Kristyn Hope, Ahmed Zuhaili, Jean Francois Tulasne
Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder of keratinization associated with palmoplantar keratoderma and severe periodontitis resulting in complete edentulism in late adolescence. The pathognomonic dental features of PLS are pathologic migration, hypermobility, and exfoliation of the teeth without any signs of root resorption. It has been suggested that an effective way to treat PLS patients presenting early in the disease progression is extraction of the erupted primary dentition or hopeless permanent teeth followed by antibiotic coverage with periodontal therapy for the remaining teeth...
November 2017: International Journal of Oral & Maxillofacial Implants
https://www.readbyqxmd.com/read/29137070/a-case-report-of-primary-adrenal-angiosarcoma-as-depicted-on-magnetic-resonance-imaging
#10
Xue-Ming Li, Hong Yang, Jing Reng, Peng Zhou, Zhu-Zhong Cheng, Zhen Li, Guo-Hui Xu
RATIONALE: Angiosarcoma is an extremely rare malignant tumor of endothelial origin. The majority of studies reporting angiosarcoma have been concerned with the clinical and pathological aspects, with limited reporting of their imaging findings. To our knowledge, angiosarcoma of the adrenal gland is very rare. Herein we firstly report a primary adrenal angiosarcoma depicted on magnetic resonance imaging (MRI). PATIENT CONCERNS: A 59-year-old man was referred to our hospital for 1 year left-flank pain that exacerbated in recent 4 months...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29135269/return-to-play-after-hip-arthroscopic-surgery-for-femoroacetabular-impingement-in-professional-soccer-players
#11
Renato Locks, Hajime Utsunomiya, Karen K Briggs, Shannen McNamara, Jorge Chahla, Marc J Philippon
BACKGROUND: Arthroscopic hip surgery has been shown to be effective in returning professional athletes back to play at a high level of performance in different sports. Limited information exists regarding professional soccer players and their return to play. PURPOSE: To determine the rate and time to return to sport for professional soccer players after hip arthroscopic surgery for the treatment of femoroacetabular impingement (FAI) and to identify possible risk factors associated with a delay in returning to play...
November 1, 2017: American Journal of Sports Medicine
https://www.readbyqxmd.com/read/29132801/robotic-stereotactic-treatment-for-malignant-metastasis-of-solid-tumour-in-the-pancreas-a-multiple-case-report-and-review-of-literature
#12
M Loi, A Magallon-Baro, C Papalazarou, M Milder, J J Nuyttens
Metastatic involvement of the pancreas occurs in 5% of patients affected by advanced malignancies. Surgical resection has been reported by number of authors as a valuable option to improve disease control, in particular in patients with limited disease burden and favourable histotypes; however, the benefit of this procedure has been questioned due to patient selection, technical challenges and relevant risk of perioperative mortality and severe complications. In the present study, a cohort of surgically unfit patients affected by a solitary metastasis in the pancreas from various primary tumours received stereotactic radiotherapy with an ablative dose schedule, obtaining promising local and distant disease progression-free delay with minor toxicity...
November 10, 2017: Cancer Radiothérapie: Journal de la Société Française de Radiothérapie Oncologique
https://www.readbyqxmd.com/read/29132769/-genital-herpes-and-pregnancy-serological-and-molecular-diagnostic-tools-guidelines-for-clinical-practice-from-the-french-college-of-gynecologists-and-obstetricians-cngof
#13
C Vauloup-Fellous
OBJECTIVES: To describe serological and molecular tools available for genital and neonatal herpes, and their use in different clinical situations. METHODS: Bibliographic investigations from MedLine database and consultation of international clinical practice guidelines. RESULTS: Virological confirmation of genital herpes during pregnancy or neonatal herpes must rely on PCR (Professional consensus). HSV type-specific serology (IgG) will allow determining the immune status of a patient (in the absence of clinical lesions)...
November 10, 2017: Gynecologie, Obstetrique, Fertilite & Senologie
https://www.readbyqxmd.com/read/29132691/-practical-assessment-of-dsaek-in-the-management-of-endothelial-decompensation-following-penetrating-keratoplasty
#14
E Neiter, C Goetz, F Tortuyaux, A Ehrhardt, N Houmad, J-M Perone
PURPOSE: To report our anatomical and functional results as well as possible complications of the first six Descemet's stripping endothelial keratoplasties (DSAEK) performed in our department for endothelial decompensation after penetrating keratoplasty (PK) METHODS: This was a retrospective and observational monocentric study of six patients with DSAEK after prior PK between January 2015 and July 2016. The data collected were: demographic characteristics (age, sex), ophthalmological comorbidities, initial indication for PK, delay between PK and DSAEK...
November 11, 2017: Journal Français D'ophtalmologie
https://www.readbyqxmd.com/read/29129501/-maternal-deaths-due-to-haemorrhage-results-from-the-french%C3%A2-confidential-enquiry-into-maternal-deaths-2010-2012
#15
E Morau, J C Ducloy, S Le Roux, P Weber
Haemorrhage is the first cause of maternal mortality and morbidity in France and a quality of care marker. Haemorrhage rate in France is around 5 to 10% of deliveries. PPH is defined as a post-partum blood loss≥500mL whatever the delivery route and sometime blood can be concealed inside the pelvis. Between 2010 and 2012 in France, 29 deaths were related to haemorrhage giving a maternal mortality ratio of 1,2/100,000 live births (CI 95% 0,8-1,7). Haemorrhage cases decreased from last triennium (2007-2009) especially for uterine atony cases (12/29) but remains the first leading cause of direct maternal death...
November 9, 2017: Gynecologie, Obstetrique, Fertilite & Senologie
https://www.readbyqxmd.com/read/29128195/-what-support-of-young-presenting-a-first-psychotic-episode-when-schooling-is-being-challenged
#16
M-N Vacheron, H Veyrat-Masson, E Wehbe
Psychiatric disorders (more specifically mood disorders and psychosis) represent the 1st cause of disability among young people. Unemployment rate between 75 to 95% for the person with schizophrenia. It is correlated to poor social integration and bad economic status, worse symptomatology loss of autonomy as well as global bad functioning. It is responsible of more than half of the overall cost of psychosis. The onset of most of psychiatric disorders occur between the age of 25 and 35 years old, a critical time in young adult life when they should build their professional as well as social future...
November 8, 2017: L'Encéphale
https://www.readbyqxmd.com/read/29126412/obstetric-fistulae-in-southern-mozambique-incidence-obstetric-characteristics-and-treatment
#17
Sibone Mocumbi, Claudia Hanson, Ulf Högberg, Helena Boene, Peter von Dadelszen, Anna Bergström, Khátia Munguambe, Esperança Sevene
BACKGROUND: Obstetric fistula is one of the most devastating consequences of unmet needs in obstetric services. Systematic reviews suggest that the pooled incidence of fistulae in community-based studies is 0.09 per 1000 recently pregnant women; however, as facility delivery is increasing, for the most part, in Africa, incidence of fistula should decrease. Few population-based studies on fistulae have been undertaken in Sub-Saharan Africa, including Mozambique. This study aimed to estimate the incidence of obstetric fistulae in recently delivered mothers, and to describe the clinical characteristics and care, as well as the outcome, after surgical repair...
November 10, 2017: Reproductive Health
https://www.readbyqxmd.com/read/29125026/delayed-and-incomplete-treatment-may-result-in-dural-fistula-development-in-children-with-vein-of-galen-malformation
#18
Dan Meila, Cynthia Schmidt, Katharina Melber, Dominik Grieb, Cornelius Jacobs, Collin Jacobs, Heinrich Lanfermann, Friedhelm Brassel
The association of dural arteriovenous fistulas (DAVF) in children with Vein of Galen malformation (VGM) has recently been reported for the first time. In a larger series of cases treated with transarterial NBCA embolization, 30% had DAVF. We wanted to analyze the development of DAVF in our cohort of children with VGM and to evaluate whether their occurrence depends on different treatment timing and embolic materials. We analyzed 43 VGM cases treated with a combined transarterial and transvenous approach between 2003 and 2016...
January 1, 2017: Interventional Neuroradiology
https://www.readbyqxmd.com/read/29124119/endoscopic-ultrasound-guided-gallbladder-drainage-for-acute-cholecystitis-with-a-silicone-covered-nitinol-short-bilaterally-flared-stent-a-case-series
#19
Raffaele Manta, Claudio Zulli, Angelo Zullo, Edoardo Forti, Alberto Tringali, Lorenzo Dioscoridi, Francesco Zito, Helga Bertani, Rita Conigliaro, Massimiliano Mutignani
Background and study aim: Gallbladder drainage in patients with cholecystitis who are unsuitable for surgery may be performed by endoscopic ultrasound (EUS)-guided placement of specifically designed fully covered metal stents. We describe the first case series of patients treated with a silicone-covered nitinol stent with bilateral anchor flanges. Patients and methods: Data from consecutive patients with acute cholecystitis who were deemed unsuitable candidates for surgery were collected...
November 2017: Endoscopy International Open
https://www.readbyqxmd.com/read/29123883/delayed-autonomic-neuropathy-in-a-patient-with-diethylene-glycol-poisoning-a-case-report
#20
Hiroki Kamada, Hideaki Suzuki, Saori Yamamoto, Ryosuke Nomura, Shigeki Kushimoto
Case: A 72-year-old man presented to our hospital after ingesting insecticide containing approximately 2 mL/kg diethylene glycol, which exceeded the lethal dose of 1 mL/kg. The patient recovered from critical symptoms on acute phase until day 3, but received artificial ventilation for muscle weakness secondary to sensorimotor neuropathy on days 11-54. Outcome: Even after marked improvement from sensorimotor neuropathy, the patient continued to complain of orthostatic hypotension...
July 2017: Acute Medicine & Surgery
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