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bone disease

Jacqueline Cloos, Jeffrey R Harris, Jeroen J W M Janssen, Angele Kelder, F Huang, Gerrit Sijm, Maike Vonk, Alexander N Snel, Jennifer R Scheick, Willemijn J Scholten, Jannemieke Carbaat-Ham, Dennis Veldhuizen, Diana Hanekamp, Yvonne J M Oussoren-Brockhoff, Gertjan J L Kaspers, Gerrit J Schuurhuis, A Kate Sasser, Gert Ossenkoppele
Response criteria in acute myeloid leukemia (AML) has recently been re-established, with morphologic examination utilized to determine whether patients have achieved complete remission (CR). Approximately half of the adult patients who entered CR will relapse within 12 months due to the outgrowth of residual AML cells in the bone marrow. The quantitation of these remaining leukemia cells, known as minimal or measurable residual disease (MRD), can be a robust biomarker for the prediction of these relapses. Moreover, retrospective analysis of several studies has shown that the presence of MRD in the bone marrow of AML patients correlates with poor survival...
March 5, 2018: Journal of Visualized Experiments: JoVE
Sho Kurihara, Masato Fujioka, Tomohiko Yoshida, Makoto Koizumi, Kaoru Ogawa, Hiromi Kojima, Hirotaka James Okano
Hearing research has long been facilitated by rodent models, although in some diseases, human symptoms cannot be recapitulated. The common marmoset (Callithrix jacchus) is a small, easy-to-handle New World monkey which has a similar anatomy of the temporal bone, including the middle ear ossicular chains and inner ear to humans, than in comparison with that of rodents. Here, we report a reproducible, safe, and rational surgical approach to the cochlear round window niche for the drug delivery to the inner ear of the common marmoset...
February 27, 2018: Journal of Visualized Experiments: JoVE
C Incorvaia, S Masieri, C Cavaliere, E Makri, B Sposato, F Frati
A large amount of data show that AR and asthma are associated both epidemiologically and clinically, introducing the definition of “united airway disease”. The mechanisms underlying such association were initially suggested to start from the nose, including the loss of the protective and homeostatic effects of nasal function, the activation of a naso-bronchial reflex and the spread of allergic inflammation from the nose to the lower airways. Later, other factors such as microbial stimuli and systemic inflammatory mechanisms, involving bloodstream and bone marrow, were advocated...
January 2018: Journal of Biological Regulators and Homeostatic Agents
D Messineo, S Masieri, C Cavaliere
Rhinitis is an underestimated clinical condition, which has a considerable impact on the quality of life of the affected patients. The subject of this review focuses on three fundamental aspects: the development of knowledge concerning anatomic landmarks, the development of radiological imaging technology, and developments that can make a difference in the treatment of allergic rhinitis. The anatomical study of paranasal sinuses has been conducted since the time of the ancient Egyptians. Development of radiological equipment from the early 1900s has helped to improve information on the morphology of paranasal sinuses, sufficient to be considered valuable information regarding frontal anatomy and its variability...
January 2018: Journal of Biological Regulators and Homeostatic Agents
Nishit Bhatnagar, Siddharth Sharma, Virender Kumar Gautam, Ajeet Kumar, Anurag Tiwari
PURPOSE: Spontaneous osteonecrosis of the knee affects the medial femoral condyle in patients above 55 years of age. Many reports and studies are available from western countries. But there is a gross paucity of literature on spontaneous osteonecrosis of the knee (SPONK) in the Indian subcontinent, either it is under-reported or detected at a later stage. The aim of our study was to detect SPONK in Indian population and describe its characteristics, treatment, and outcome. MATERIAL AND METHOD: A prospective study was conducted over a period of three years...
March 18, 2018: International Orthopaedics
Jun-Ichi Satoh, Yoshihiro Kino, Motoaki Yanaizu, Yuko Saito
Nasu-Hakola disease (NHD) is a rare autosomal recessive disorder, characterized by progressive presenile dementia and formation of multifocal bone cysts, caused by genetic mutations of either triggering receptor expressed on myeloid cells 2 ( TREM2 ) or TYRO protein tyrosine kinase binding protein ( TYROBP ), alternatively named DNAX-activation protein 12 ( DAP12 ), both of which are expressed on microglia in the brain and form the receptor-adaptor complex that chiefly recognizes anionic lipids. TREM2 transmits the signals involved in microglial survival, proliferation, chemotaxis, and phagocytosis...
February 2018: Intractable & Rare Diseases Research
Qian Xu, Yuying Zhao, Xiaoyan Zhou, Jing Luan, Yazhou Cui, Jinxiang Han
Amyotrophic Lateral Sclerosis (ALS) is a muscle-bone degenerative disease, which lacks a specific index for diagnosis. In our previous studies, we found that exosomes mediated the interaction mechanism between muscle and bone at the cellular level, and myoblast exosomes can transfer miR-27a-3p to promote osteoblast mineralization. Therefore, we suppose that the expression of miR-27a-3p in the serum exosomes of ALS patients also changes. In this study, we used healthy human serum as a sample to find out the conditions and methods for extraction and detection...
February 2018: Intractable & Rare Diseases Research
Naixiang Zhai, Yanqin Lu, Yanzhou Wang, Xiuzhi Ren, Jinxiang Han
Circular RNA (circRNA) is a non-linear form of RNA derived from exonic, intronic, and exon-intron gene regions. circRNAs are characterized by covalent closed loops, highly stable nuclease resistance, and specific expression in species and developmental stages. CircRNA molecules have been identified as playing roles in the regulation of cell transcription, transcriptional expression after translation, interactions with microRNAs, and protein coding. A high stability and tissue- and disease-specific expression allow circRNAs to serve as potential biomarkers both for diseases and prognosis...
February 2018: Intractable & Rare Diseases Research
Franchesca Cruz-Pérez, Salvador Vilá, Grissel Ríos, Luis M Vilá
Macrophage-activating syndrome (MAS) is a rare condition characterized by dysfunctional macrophage activation leading to overproduction of cytokines and phagocytosis of erythrocytes, leukocytes, and platelets. MAS is associated with infectious diseases, malignancies, and autoimmune rheumatic disorders. Herein, we present a 22-year-old Hispanic woman with SLE who was hospitalized because of a three-week history of fever, fatigue, polyarthralgia, nausea, and abdominal pain. Initial laboratories showed severe pancytopenia with marked elevation of liver enzymes and ferritin levels...
2018: Case Reports in Rheumatology
Selvi Jegatheeson, Julie Wayne, Laura K Brockley
Case summary: A 7-year-old male neutered domestic shorthair cat presented for investigation of a swelling over the right forelimb. Radiographs of the right forelimb revealed significant lysis and soft tissue swelling surrounding a previously implanted surgical plate, used to repair a fracture of the distal radius 5 years prior. The implant was removed, and a biopsy was collected. Histopathological analysis and immunohistochemistry diagnosed a non-epitheliotropic T-cell cutaneous lymphoma...
January 2018: JFMS Open Reports
Festi Lova, Manoj Vengal, Auswaf Ahsan, Ashir Kr, Tim Peter, Hamesh Gangadharan
Gorham disease is a rare disorder with progressive osteolysis which leads to the vanishing of bones. Its etiology and ideal management strategy are still an enigma. A case of Gorham disease involving the maxillofacial region in a 25-year-old male with an emphasis on etiology and diagnosis is discussed.
February 2018: Radiology Case Reports
Álvaro Sebastián-Serrano, Laura de Diego-García, David C Henshall, Tobías Engel, Miguel Díaz-Hernández
Hypophosphatasia (HPP) is a rare heritable metabolic bone disease caused by hypomorphic mutations in the ALPL (in human) or Akp2 (in mouse) gene, encoding the tissue-nonspecific alkaline phosphatase (TNAP) enzyme. In addition to skeletal and dental malformations, severe forms of HPP are also characterized by the presence of spontaneous seizures. Initially, these seizures were attributed to an impairment of GABAergic neurotransmission caused by altered vitamin B6 metabolism. However, recent work by our group using knockout mice null for TNAP (TNAP-/-), a well-described model of infantile HPP, has revealed a deregulation of purinergic signaling contributing to the seizure phenotype...
2018: Frontiers in Pharmacology
Rajashri Abhay Kolte, Abhay Pandurang Kolte, Anushree Manohar Potey
Background: Osteoporosis is particularly high in females, the early identification of which remains a challenge. Panoramic radiographs are routinely advised to detect periodontal diseases and can be used to predict low bone mineral density (BMD). Hence, this investigation was aimed to identify the risk of osteoporosis in pre- and postmenopausal periodontally healthy and chronic periodontitis women with digital panoramic radiographs. Materials and Methods: The study population consisted of 120 patients equally divided as Group I - Premenopausal periodontally healthy, Group II - Premenopausal periodontitis, Group III - Postmenopausal periodontally healthy, and Group IV - Postmenopausal periodontitis...
November 2017: Journal of Indian Society of Periodontology
Hongchuan Guo, Xu Wang, Chunyu Song, Zihao Song, Jiantao Liang, Gang Song, Yuhai Bao
OBJECTIVE: To retrospectively analyze the clinical data of 4 patients with trigeminal neuralgia (TN) secondary to osteoid osteoma (OO) of petrous bone and discuss the treatment experiences for this rare disease. METHOD: Between January 2008 and December 2016, 4 patients diagnosed as TN secondary to OO of petrous bone received surgical treatment in Xuan Wu Hospital of Capital Medical University. We summarized the characteristics and treatment experiences of this rare disease through retrospective review of the clinical information, imaging features, surgical details and follow up outcomes of all those 4 patients...
March 15, 2018: World Neurosurgery
Nina Bon, Giulia Frangi, Sophie Sourice, Jérôme Guicheux, Sarah Beck-Cormier, Laurent Beck
OBJECTIVE: The canonical role of the bone-derived fibroblast growth factor 23 (Fgf23) is to regulate the serum inorganic phosphate (Pi) level. As part of a feedback loop, serum Pi levels control Fgf23 secretion through undefined mechanisms. We recently showed in vitro that the two high-affinity Na+ -Pi co-transporters PiT1/Slc20a1 and PiT2/Slc20a2 were required for mediating Pi-dependent signaling. Here, we addressed the contribution of PiT1 and PiT2 to the regulation of Fgf23 secretion...
February 26, 2018: Molecular Metabolism
Nashwa M Samra, Shaimaa Emad El Abrak, Hanaa H El Dash, Mona El Said El Raziky, Manal A El Sheikh
BACKGROUND: Hepatic osteodystrophy caused by vitamin D and calcium malabsorption is thought to develop in children with cholestatic liver disease leading to secondary hyperparathyroidism and rickets or osteomalacia. The aim of this study was to evaluate the dental and bone mineral densities and the serum level of vitamin D in cholestatic infants and children and to correlate this process with clinical and laboratory parameters. METHODS: This is a cross-sectional study that include 50 patients presenting with cholestasis...
March 15, 2018: Clinics and Research in Hepatology and Gastroenterology
Kyohei Nakamura, Sahar Kassem, Alice Cleynen, Marie-Lorraine Chrétien, Camille Guillerey, Eva Maria Putz, Tobias Bald, Irmgard Förster, Slavica Vuckovic, Geoffrey R Hill, Seth L Masters, Marta Chesi, P Leif Bergsagel, Hervé Avet-Loiseau, Ludovic Martinet, Mark J Smyth
Tumor-promoting inflammation and avoiding immune destruction are hallmarks of cancer. Here, we demonstrate that the pro-inflammatory cytokine interleukin (IL)-18 is critically involved in these hallmarks in multiple myeloma (MM). Mice deficient for IL-18 were remarkably protected from Vk∗ MYC MM progression in a CD8+ T cell-dependent manner. The MM-niche-derived IL-18 drove generation of myeloid-derived suppressor cells (MDSCs), leading to accelerated disease progression. A global transcriptome analysis of the immune microenvironment in 73 MM patients strongly supported the negative impact of IL-18-driven MDSCs on T cell responses...
March 1, 2018: Cancer Cell
Céline Klein, Tiphanie Delcourt, Arielle Salon, Georges Finidori, Christophe Glorion, Stéphanie Pannier
PURPOSE: The objective of the present study was to evaluate the outcome of surgical treatment of hand lesions in Ollier disease (OD) carried out during childhood. METHODS: A retrospective review was carried out of 10 pediatric patients with hand involvement of OD, who had undergone surgery for metacarpal or phalangeal enchondromas. The technique comprised curettage and cortical bone reconstruction with corticoplasty, to restore a near-normal phalangeal volume. The range of finger motion (pulp-to-palm distance), the shortened Disabilities of the Arm, Shoulder, and Hand (QuickDASH) questionnaire score, cosmetic improvement, radiological findings (according to Tordai's classification), and recurrence were recorded after a mean follow-up of 7...
March 15, 2018: Journal of Hand Surgery
Tarini Ratneswaren, Florence Rosie Avila Hogg, Mathew Joseph Gallagher, Keyoumars Ashkan
BACKGROUND: Intracranial hemangiopericytomas (HPC) and solitary fibrous tumors (SFTs) (HPC-SFT) are rare vascular tumors that resemble meningioma on imaging and predominantly affect young adults. HPC-SFT have a high rate of local recurrence with well-known propensity for extracranial metastases. This provides clinical dilemmas frequently encountered in oncology: (i) How should these patients be monitored long term? (ii) Which primary tumors are more likely to metastasize? OBJECTIVES: This systematic review aims to identify the incidence, common locations and time to presentation of extra-cranial metastases of HPC-SFT...
March 17, 2018: Journal of Neuro-oncology
Kenkichi Baba, Hayato Kaida, Chikayuki Hattori, Koichiro Muraki, Tomoko Kugiyama, Hiromasa Fujita, Masatoshi Ishibashi
OBJECTIVE: The purpose of this study was to investigate the palliative and tumoricidal effects of concurrent therapy of strontium-89 chloride (89 SrCl2 ) and zoledronic acid (ZA) for painful bone metastases. SUBJECTS AND METHODS: Fifty-one patients with painful bone metastases prostate cancer (n=17), lung cancer (n=13), breast cancer (n=12), other cancers (n=9) were treated. Bone metastases was confirmed in all patients by technetium-99m hydroxymethylene diphosphonate (99m Tc-HMDP) bone scintigraphy...
March 20, 2018: Hellenic Journal of Nuclear Medicine
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