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atypical development

I B Mikheeva, R Sh Shtanchaev, N A Pen'kova, L L Pavlik
Ultrastructure of the neuropil of the brain oculomotor nuclei was studied in mice after 30-day exposure to microgravity on Bion-M1 biosatellite and after 13-h exposure to Earth gravity. The number of axo-dendritic synapses in the neuropil of the oculomotor nucleus significantly decreased after the flight. Degenerated axon terminals containing conglomerates of presynaptic vesicles appeared. The number of synapses with high functional activity increased and the length of active zones of the axo-dendritic synapses significantly increased...
August 18, 2018: Bulletin of Experimental Biology and Medicine
Anning Li, Shuangmin Ji, Weihua Yue, Hao Yan, Fang Dong, Canjun Ruan, Wenbiao Li, Wei Lu, Dai Zhang, Chuanyue Wang
OBJECTIVE: Olanzapine is an atypical antipsychotic drug commonly used for the treatment of schizophrenia. However, there are still many complications associated with the use of olanzapine, and researchers continually strive to improve the handling of data from regular therapeutic drug monitoring (TDM). The objective of this study is to optimise the individualised treatment of olanzapine by establishing a population pharmacokinetics (PopPK) model in Chinese patients with schizophrenia...
August 17, 2018: BMJ Open
Saliha Esenboga, Can Akal, Betül Karaatmaca, Baran Erman, Sibel Dogan, Diclehan Orhan, Kaan Boztug, Deniz Ayvaz, İlhan Tezcan
V(D)J recombination, during which recognition and repair of broken DNA chains are accomplished by non-homologous end joining pathway, is a critical process in B and T cell development.Null mutations of each enzyme or protein of this pathway result in T- B- NK+ severe combined immunodeficiency whereas hypomorphic mutations result in atypical(leaky)severe combined immunodeficiency forms. We present two siblings with PRKDC (Protein Kinase, DNA-Activated, Catalytic Polypeptide) mutation who presented with granulomatous skin lesions and recurrent lung infections...
August 16, 2018: Clinical Immunology: the Official Journal of the Clinical Immunology Society
Felice D'Arco, Faraan Khan, Kshitij Mankad, Mario Ganau, Pablo Caro-Dominguez, Sotirios Bisdas
Central nervous system neoplasms are the most common solid tumours that develop in children, with the greatest proportion located in the infratentorium. The 2016 World Health Organization Central Nervous System tumour classification evolved from the 2007 edition with the integration of molecular and genetic profiling into the diagnosis, the addition of new entities and the removal of others. Radiology can assist with the subtyping of tumours from certain characteristics described below to provide prognostic information and guide further management...
August 17, 2018: Pediatric Radiology
Adam C Weber, Debra J Shetlar, Michael T Yen
A patient with a history of rheumatoid arthritis presented with bilateral orbital lesions while on abatacept. Biopsy of the lesions yielded pathologic assessment showing vasculitis with a mixed inflammatory infiltrate notable for numerous eosinophils. Despite initial improvement on cyclophosphamide therapy, she developed progression of the orbital lesions and lesions elsewhere on her body. All serologic studies were normal except for increased levels of rheumatoid factor and eosinophilia. The patient underwent a second biopsy, which was consistent with her initial pathology...
August 6, 2018: Ophthalmic Plastic and Reconstructive Surgery
Lutz Schmitz, Claus Oster-Schmidt, Eggert Stockfleth
Actinic keratoses (AKs) are defined as intraepithelial proliferation of atypical keratinocytes. Given their potential for progression to invasive squamous cell carcinoma, they may eventually evolve into a life-threatening disease. In recent decades, there has been a significant increase in the incidence of AKs, primarily due to changes in recreational activities and demographic trends in industrialized countries. As it is currently impossible to predict if and when a given AK might progress to invasive carcinoma, rigorous treatment of field cancerization is a key component in preventing potential progression...
August 2018: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
A Hauptmann, F M E Wagenlehner, T Diemer
Peyronie's disease (PD) is a heterogeneous disorder with the classical penile symptoms of plaque formation, penile pain, deviation, penile shortening and erectile dysfunction. The etiology is unknown. Microtraumatic lesions with the development of an inelastic fibrous scar formation at the level of the tunica albuginea are discussed as a trigger mechanism besides a questionable genetically linked atypical wound healing. A non-surgical etiological treatment is not possible although several conservative treatment regimens are applied...
August 16, 2018: Der Urologe. Ausg. A
Philipp Tschandl
Patients with multiple atypical nevi are at higher risk of developing melanoma. Among different techniques, sequential digital dermatoscopic imaging (SDDI) is a state-of-the art method to enhance diagnostic accuracy in evaluating pigmented skin lesions. It relies on analyzing digital dermatoscopic images of a lesion over time to find specific dynamic criteria inferring biologic behavior. SDDI can reduce the number of necessary excisions and finds melanomas in an early-and potentially curable-stage, but precautions in selecting patients and lesions have to be met to reach those goals...
July 2018: Dermatology Practical & Conceptual
Anna E van Beek, Angela Kamp, Simone Kruithof, Ed J Nieuwenhuys, Diana Wouters, Ilse Jongerius, Theo Rispens, Taco W Kuijpers, Kyra A Gelderman
Complement is activated as part of the innate immune defense against invading pathogens. Also, it helps to remove apoptotic debris and immune complexes from the circulation. Impaired complement function due to aberrant plasma levels of complement proteins may be indicative for complement-mediated diseases or can be involved in susceptibility for infections. To determine whether plasma levels are abnormal, reference intervals (RIs) are used from adult healthy donors. Since many complement-mediated diseases have an onset during childhood, it is important to know whether these RIs can be extrapolated to children...
2018: Frontiers in Immunology
Laura Josephine Cheetham, Edwin Mitchell
Two previously fit and healthy males with acute onset dyspnoea and respiratory failure required invasive ventilation for respiratory failure. Insertion and correct positioning of nasogastric tubes (NGT) proved to be difficult repeatedly in both cases over the course of a number of days. Repeated imaging found NGT tips sited in varied, atypical positions including extension into the hemithoraces. Delineation of repeated malpositioned NGTs identified oesophageal perforations in the case of both patients, one with fistulation into the right pleura and the other into the left pleura...
August 16, 2018: BMJ Case Reports
Inga Eichhorn, Torsten Semmler, Alexander Mellmann, Derek Pickard, Muna F Anjum, Angelika Fruth, Helge Karch, Lothar H Wieler
Enterohemorrhagic Escherichia coli (EHEC) are a cause of bloody diarrhea, hemorrhagic colitis (HC) and the potentially fatal hemolytic uremic syndrome (HUS). While O157:H7 is the dominant EHEC serotype, non-O157 EHEC have emerged as serious causes of disease. In Germany, the most important non-O157 O-serogroups causing one third of EHEC infections, including diarrhea as well as HUS, are O26, O103, O111 and O145. Interestingly, we identified EHEC O-serogroups O26 and O111 in one single sequence type complex, STC29, that also harbours atypical enteropathogenic E...
August 10, 2018: International Journal of Medical Microbiology: IJMM
Beatrix Krause, Chung Yen Looi, Martin Dresler, Roi Cohen Kadosh
Alterations in excitatory and inhibitory neurotransmitters (glutamate and GABA, respectively) have been found in various neuropsychiatric disorders, but have not been examined in individuals with prodigious cognitive abilities. Understanding exceptional brain processing is critical for developing biomedical interventions for cognitive and neurodevelopmental atypicalities. We tested the eleven-fold world champion in mental calculation, G.M., and compared his right middle frontal gyrus, which has been associated with mathematical prodigy, to four healthy control expert calculators, who were not prodigies...
August 13, 2018: Neuroscience
C Beguin, N Jansen, C Loly
Brain metastases occur in 1 to 4 % of patients with colorectal cancer and are unique in 0.5 % of them. Because of their infrequent nature, brain imaging is not recommended in the systematic follow-up of these patients. We report here an exceptional case of a unique brain metastasis in a very unusual position. An 82-year-old patient with a colorectal cancer of the splenic angle that was treated with surgery and adjuvant chemotherapy, developed a series of neurological symptoms over four to six weeks: difficulty swallowing, loss of strength in the four limbs and balance disorders...
July 2018: Revue Médicale de Liège
Michela Ripolone, Valeria Lucchini, Dario Ronchi, Gigliola Fagiolari, Andreina Bordoni, Francesco Fortunato, Stefania Mondello, Sara Bonato, Mirella Meregalli, Yvan Torrente, Stefania Corti, Giacomo P Comi, Maurizio Moggio, Monica Sciacco
Spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of cerebellar degenerative disorders, characterized by progressive gait unsteadiness, hand incoordination, and dysarthria. Ataxia type 1 (SCA1) is caused by the expansion of a CAG trinucleotide repeat in the SCA1 gene resulting in the atypical extension of a polyglutamine (polyQ) tract within the ataxin-1 protein. Our main objective was to investigate the mitochondrial oxidative metabolism in the cerebellum of transgenic SCA1 mice. SCA1 transgenic mice develop clinical features in the early life stages (around 5 weeks of age) presenting pathological cerebellar signs with concomitant progressive Purkinje neuron atrophy and relatively little cell loss; this evidence suggests that the SCA1 phenotype is not the result of cell death per se, but a possible effect of cellular dysfunction that occurs before neuronal demise...
September 2018: Journal of Neuroscience Research
Karla R Bowles, Debora Mancini-DiNardo, Bradford Coffee, Hannah C Cox, Yaping Qian, Maria Elias, Nanda Singh, Thaddeus Judkins, Benoît Leclair, Benjamin B Roa
Expanded genetic test utilization to guide cancer management has driven the development of larger gene panels and greater diversity in the patient population pursuing testing, resulting in increased identification of atypical or technically challenging genetic findings. To ensure appropriate patient care, it is critical that genetic tests adequately identify and characterize these findings. We describe genetic testing challenges frequently encountered by our laboratory and the methodologies we employ to improve test accuracy for the identification and characterization of atypical genetic findings...
August 16, 2018: Future Oncology
Abhijeet Singh, Viswesvaran Balasubramanian, Nitesh Gupta
Dengue fever (DF) is an arboviral disease caused by a positive-sense RNA virus of the genus Flavivirus . The overall incidence of DF has increased exponentially worldwide over the last three decades. The atypical clinical manifestations of DF grouped under expanded dengue syndrome (EDS), have also been reported more frequently for the last decade. These unusual manifestations are usually associated with coinfections, comorbidities, or complications of prolonged shock. Intracranial hemorrhage (ICH) is one of the rare manifestations of the central nervous system involvement by dengue as a part of EDS...
May 2018: Journal of Family Medicine and Primary Care
Laury Chamelian, Austin Pereira, Kiran Grant, Catherine Maurice
Patients presenting with acute or chronic hepatopathy can develop altered mental status with psychomotor slowing, most commonly indicating encephalopathy. We present the case of a 56-year-old patient who developed subacute atypical neuropsychiatric symptoms including cognitive and behavioural disorganization, manic-like state, and lateralized parkinsonian syndrome. The sequence of events, complete work-up, and detailed neuropsychiatric examination were not compatible with hepatic encephalopathy or delirium; therefore we extended our differential diagnosis and suggested the pathophysiological process described below...
2018: Case Reports in Transplantation
Kamal Patel, Brandon Lilly, Oluwadamilare Ajayi, Kelly Melvin
Neuroleptic Malignant Syndrome (NMS) is a rare condition clinically characterized by muscle rigidity, hyperthermia, autonomic instability, and acute mental status change. NMS is most often associated with use of high-potency first-generation antipsychotic medications; though, other neuroleptics have been implicated as well. NMS can be fatal with estimated mortality rates as high as 20%. Patients experiencing certain severe complications, including renal failure, have been associated with mortality as high as 50%, stressing the need for early recognition and treatment...
2018: Case Reports in Psychiatry
Benjamin R Ittleman, Joanne S Szabo
A term newborn, who underwent lotus birth, developed Staphylococcus lugdunensis sepsis and endocarditis on the 1st day of life. This case reports an uncommon pathogen known to cause destructive endocarditis in the adult and paediatric populations, causing endocarditis in a neonate. We speculate that lotus birth, an atypical birthing practice, may have contributed to the development of this infection.
August 15, 2018: Cardiology in the Young
Ignazio Cali, Fadi Mikhail, Kefeng Qin, Crystal Gregory, Ani Solanki, Manuel Camacho Martinez, Lili Zhao, Brian Appleby, Pierluigi Gambetti, Eric Norstrom, James A Mastrianni
Objective: To describe the clinicopathologic, molecular, and transmissible characteristics of genetic prion disease in a young man carrying the PRNP -G114V variant. Methods: We performed genetic, histologic, and molecular studies, combined with in vivo transmission studies and in vitro replication studies, to characterize this genetic prion disease. Results: A 24-year-old American man of Polish descent developed progressive dementia, aphasia, and ataxia, leading to his death 5 years later...
August 2018: Neurology. Genetics
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