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Zahraa Haidar, Nadine Jalkh, Sandra Corbani, Ali Fawaz, Eliane Chouery, André Mégarbané
Pyridoxine dependent epilepsy (PDE) is a rare autosomal recessive neurometabolic disorder. In the classical form, seizures are observed within the first month of life, while in the atypical form seizures appear later in life, sometimes as late as at the age of 3 years of life. Both types are unresponsive to conventional anticonvulsant therapy, but can be controlled with pyridoxine monotherapy. Mutations in the ALDH7A1 gene, encoding α-aminoadipic semialdehyde dehydrogenase have been reported to cause this disease in most patients...
March 10, 2018: Seizure: the Journal of the British Epilepsy Association
Si Liu, Baoshan Gao, Gang Wang, Weigang Wang, Xin Lian, Shan Wu, Jinyu Yu, Yaowen Fu, Honglan Zhou
Primary hyperoxaluria type 2 is a rare autosomal recessive disorder caused by glyoxylate reductase/hydroxypyruvate reductase deficiency and characterized by recurrent episodes of nephrolithiasis and nephrocalcinosis. Herein, we describe a case of primary hyperoxaluria type 2 in a 33-year-old man who failed to respond to conventional therapies; thus renal transplantation was performed. This case demonstrated that, although primary hyperoxaluria type 2 is rare, hyperoxaluria should be suspected and blood oxalate and stone component be examined in patients with recurrent episodes of nephrolithiasis, particularly in those who are unresponsive to conventional therapies...
April 2018: Experimental and Therapeutic Medicine
Maria Krevvata, Xiaochuan Shan, Chenghui Zhou, Cedric Dos Santos, Georges Habineza Ndikuyeze, Anthony Secreto, Joshua Glover, Winifred Trotman, Gisela Brake-Silla, Selene Nunez-Cruz, Gerald Wertheim, Hyun-Jeong Ra, Elizabeth Griffiths, Charalampos Papachristou, Gwenn Danet-Desnoyers, Martin Carroll
Patient-derived xenotransplantation models of human myeloid diseases including acute myeloid leukemia, myelodysplastic syndromes and myeloproliferative neoplasms are essential for studying the disease's biology in pre-clinical studies. However, few studies have used these models for comparison purposes. Previous work has shown that acute myeloid leukemia blasts respond to human hematopoietic cytokines whereas myelodysplastic syndrome cells do not. We compared the engraftment of acute myeloid leukemia cells and myelodyplastic syndrome cells in NSG mice to NSG-S mice, which have transgene expression of human cytokines...
March 15, 2018: Haematologica
Dror Cohen, Bruno van Swinderen, Naotsugu Tsuchiya
Hierarchically organized brains communicate through feedforward (FF) and feedback (FB) pathways. In mammals, FF and FB are mediated by higher and lower frequencies during wakefulness. FB is preferentially impaired by general anesthetics in multiple mammalian species. This suggests FB serves critical functions in waking brains. The brain of Drosophila melanogaster (fruit fly) is also hierarchically organized, but the presence of FB in these brains is not established. Here, we studied FB in the fly brain, by simultaneously recording local field potentials (LFPs) from low-order peripheral structures and higher-order central structures...
January 2018: ENeuro
Liliana L Cubas-Gaona, Elisabet Diaz-Beneitez, Marina Ciscar, José F Rodríguez, Dolores Rodríguez
Infectious bursal disease virus (IBDV) belongs to the Birnaviridae family and is the etiological agent of a highly contagious and immunosuppressive disease (IBD) that affects domestic chickens ( Gallus gallus ). IBD or Gumboro disease leads to high morbidity and mortality of infected animals, and is responsible for major economic losses to the poultry industry world-wide. IBD is characterized by a massive loss of IgM-bearing B lymphocytes and the destruction of the bursa of Fabricius. The molecular bases of the IBDV pathogenicity are still poorly understood, nonetheless, an exacerbated cytokine immune response and B cell depletion due to apoptosis are considered main factors contributing to the severity of the disease...
March 14, 2018: Journal of Virology
Anne M Stowman, Alexandra W Hickman, Ileana S Mauldin, Adela Mahmutovic, Alejandro A Gru, Craig L Slingluff
Desmoplastic melanomas (DM) have unique and challenging clinical presentations and histomorphology. A characteristic feature is the presence of scattered lymphoid aggregates. However, the nature of these aggregates is not defined. We hypothesized that they may be tertiary lymphoid structures (TLS), and may be associated with programmed death ligand 1 (PD-L1) expression. We searched our tissue database for 'pure' DMs and for scars as control tissues, collected clinical information, and reviewed H&E histology...
March 13, 2018: Melanoma Research
Sheng Y Ang, Bronwyn A Evans, Daniel P Poole, Romke Bron, Jesse J DiCello, Ross A D Bathgate, Martina Kocan, Dana S Hutchinson, Roger J Summers
Insulin-like peptide 5 (INSL5) is a newly discovered gut hormone expressed in colonic enteroendocrine L-cells but little is known about its biological function. Here, we show using RT-qPCR and in situ hybridisation that Insl5 mRNA is highly expressed in the mouse colonic mucosa, colocalised with proglucagon immunoreactivity. In comparison, mRNA for RXFP4 (the cognate receptor for INSL5) is expressed in various mouse tissues, including the intestinal tract. We show that the human enteroendocrine L-cell model NCI-H716 cell line, and goblet-like colorectal cell lines SW1463 and LS513 endogenously express RXFP4...
April 2018: Journal of Molecular Endocrinology
Manish K Thakur, Lance Heilbrun, Kimberlee Dobson, Julie Boerner, Karri Stark, Jing Li, Daryn Smith, Elisabeth Heath, Joseph Fontana, Ulka Vaishampayan
BACKGROUND: Pasireotide (SOM230; Novartis Inc, Basel, Switzerland) is a multitargeted somatostatin receptor analogue likely to treat the neuroendocrine, and docetaxel resistant components within metastatic castrate-resistant prostate cancer (mCRPC). This phase I trial tested the combination of pasireotide, docetaxel, and prednisone in pretreated mCRPC. PATIENTS AND METHODS: Chemotherapy naive mCRPC patients received docetaxel 75 mg/m2 intravenously every 21 days and pasireotide intramuscularly every 28 days at escalating dose levels of 40, 60, and 80 mg...
February 13, 2018: Clinical Genitourinary Cancer
María Victoria Alvarez-Sánchez, O B Luna, I Oria, K Marchut, F Fumex, G Singier, A Salgado, B Napoléon
BACKGROUND: It has been suggested that EUS-BD may be a feasible and safer alternative to percutaneous transhepatic biliary drainage (PTBD) after failed ERCP in patients with ascites. To date, no study has specifically evaluated the performance of EUS-BD in this context. METHODS: Retrospective analysis was done for patients with and without ascites who underwent EUS-BD for malignant biliary obstruction after failed ERCP between July 2010 and September 2014. Complications and technical and clinical successes between the two groups were compared...
March 12, 2018: Journal of Gastrointestinal Surgery: Official Journal of the Society for Surgery of the Alimentary Tract
K Jeannet Oyen, Michael E Dillon
Critical thermal limits often determine species distributions for diverse ectotherms and have become a useful tool for understanding past and predicting future range shifts in response to changing climates. Despite recently documented population declines and range shifts of bumble bees (genus Bombus ), the few measurements of thermal tolerance available for the group have relied on disparate measurement approaches. We describe a novel stereotypical behavior expressed by bumble bee individuals during entry into chill coma...
March 12, 2018: Journal of Experimental Biology
Caroline C Swift, Meryle J Eklund, Jacqueline M Kraveka, Adina L Alazraki
Neuroblastoma is an embryonic tumor of the peripheral sympathetic nervous system. It is the most common extracranial solid tumor of childhood and accounts for up to 15% of all pediatric cancer fatalities. The manifestation of neuroblastoma is variable depending on the location of the tumor and on the presence or absence of paraneoplastic syndromes. The prognosis of neuroblastoma is also highly variable, ranging from spontaneous regression to widespread metastatic disease that is unresponsive to treatment. The age of the patient, stage of disease, histopathologic results, and multiple biologic factors contribute to the presurgical and pretreatment risk stratification of a patient with neuroblastoma...
March 2018: Radiographics: a Review Publication of the Radiological Society of North America, Inc
Eleni Theocharidou, Michael A Heneghan
Autoimmune hepatitis occurs in genetically susceptible individuals as a result of loss of immunological tolerance to hepatic autoantigens that can be precipitated by environmental triggers. The clinical manifestation is usually insidious but can be also acute with liver failure. The diagnosis is made on the basis of antibody positivity, elevated immunoglobulin G levels and interface hepatitis on liver histology. Induction of remission is achieved with high-dose steroids in the majority of cases, and maintenance of remission with azathioprine...
March 2, 2018: British Journal of Hospital Medicine
Erik K St Louis
Apathy has been recently recognized as a distinct neuropsychological syndrome, overlapping with but also separable from mood disorders and cognitive impairment. While it is perhaps seen most often as a cardinal feature of depression as an amotivational symptom, it may occur independently in isolation without other prominent mood, vegetative, or cognitive symptoms or signs. The etymology of apathy is derived from the Greek "pathos" (passion), so apathy may be considered to be an amotivational state, i...
March 12, 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
Anıl Er, Aykut Çağlar, Fatma Akgül, Emel Ulusoy, Hale Çitlenbik, Durgül Yılmaz, Murat Duman
AIM: High-flow nasal cannula (HFNC) is a new treatment option for pediatric respiratory distress and we aimed to assess early predictive factors of unresponsiveness to HFNC therapy in a pediatric emergency department (ED). METHOD: Patients who presented with respiratory distress and were treated by HFNC, were included. The age, gender, weight, medical history, diagnosis, vital signs, oxygen saturation/fraction of inspired oxygen (SpO2 /FiO2 ) ratio, modified Respiratory Distress Assessment Instrument (mRDAI) scores, medical interventions, duration of HFNC therapy, time to escalation, adverse effects, and laboratory test results were obtained from medical and nursing records...
March 12, 2018: Pediatric Pulmonology
R L van den Brink, S Nieuwenhuis, G J M van Boxtel, G van Luijtelaar, H J Eilander, V J M Wijnen
For some patients, coma is followed by a state of unresponsiveness, while other patients develop signs of awareness. In practice, detecting signs of awareness may be hindered by possible impairments in the patient's motoric, sensory, or cognitive abilities, resulting in a substantial proportion of misdiagnosed disorders of consciousness. Task-free paradigms that are independent of the patient's sensorimotor and neurocognitive abilities may offer a solution to this challenge. A limitation of previous research is that the large majority of studies on the pathophysiological processes underlying disorders of consciousness have been conducted using cross-sectional designs...
2018: NeuroImage: Clinical
Ahmed Abushahin, Abdulla Zarroug, Magda Wagdi, Ibrahim Janahi
Wheezing and cough are common case scenarios that pediatricians encountered in their office practices. Although a bronchogenic cyst is an uncommon condition, it is essential to be considered in the differential diagnosis of a chronic cough and wheezing among young children who fail to respond to appropriate medical treatment. A 28-month-old girl was referred to our pediatric pulmonology clinic with persistent symptoms of a cough and wheeze unresponsive to standard asthma therapy. This presentation prompted us to undertake a detailed diagnostic evaluation...
2018: Case Reports in Pediatrics
Vasily Mikhaïlovitch Smirnov, Christina Zeitz, Nagasamy Soumittra, Isabelle Audo, Sabine Defoort-Dhellemmes
INTRODUCTION: CABP4-related retinal dysfunction is a cone-rod synaptic transmission disorder with electronegative electroretinogram (ERG) waveform. It is a rare retinal dysfunction that can be classified into the incomplete form of congenital stationary night blindness. Absent foveal reflex and overall foveal thinning were previously reported, but in most cases the fundus appearance was described as nearly normal. We report here peculiar macular changes in a patient of French ancestry harbouring CABP4 mutations...
March 10, 2018: Documenta Ophthalmologica. Advances in Ophthalmology
Mario P Colombo, Elena Jachetti, Valeria Cancila, Alice Rigoni, Lucia Bongiovanni, Barbara Cappetti, Beatrice Belmonte, Claudia Enriquez, Patrizia Casalini, Paola Ostano, Barbara Frossi, Sabina Sangaletti, Claudia Chiodoni, Giovanna Chiorino, Carlo E Pucillo, Claudio Tripodo
Immunotherapy, including the use of checkpoint inhibitors, is a potent therapeutic approach for some cancers, but has limited success with prostate tumors, in which immune suppression is instigated by the tumor. The immunosuppressive capacity of mast cells, which promote adenocarcinoma development in the prostate, prompted our investigation on whether mast cells promote tolerance to SV40 Large-T antigen, the transforming oncogene in transgenic adenocarcinoma of the mouse prostate (TRAMP) mice. The incidence of adenocarcinoma was reduced in the offspring of a cross between TRAMP mice and mast cell-deficient KitWsh mice...
March 9, 2018: Cancer Immunology Research
Abdulcebbar Şipal, Serdar Bozyel, Müjdat Aktaş, Emir Derviş, Tayyar Akbulut, Onur Argan, Umut Çelikyurt, Dilek Ural, Tayfun Şahin, Ayşen Ağır, Ahmet Vural
OBJECTIVE: Failure to select the optimal left ventricular (LV) segment for lead implantation is one of the most important causes of unresponsiveness to the cardiac resynchronization therapy (CRT). In our study, we aimed to investigate the echocardiographic and clinical benefits of LV lead implantation guided by an intraoperative 12-lead surface electrocardiogram (ECG) in patients with multiple target veins. METHODS: We included 80 [42 (62.5%) male] heart failure patients who successfully underwent CRT defibrillator (CRT-D) implantation...
March 2018: Anatolian Journal of Cardiology
Xianda Zhao, Audre May, Emil Lou, Subbaya Subramanian
Immune checkpoint blockade therapy (ICBT) has resulted in extended overall survival for some patients with certain types of cancer, most prominently including colorectal cancer (CRC) associated with microsatellite instability (MSI). However, most patients with CRC whose phenotypes have microsatellite stability (MSS) are unresponsive to ICBT. In efforts to understand the responsiveness of CRC tumors to ICBT, genotypic and phenotypic signatures of CRC tumors are now being investigated. The MSI and MSS classification has been clinically validated as helpful in predicting response vs nonresponse to ICBT in patients with CRC...
February 12, 2018: Translational Research: the Journal of Laboratory and Clinical Medicine
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