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https://www.readbyqxmd.com/read/28941359/loss-of-interaction-between-plectin-and-type-xvii-collagen-results-in-epidermolysis-bullosa-simplex
#1
Ken Natsuga, Wataru Nishie, Machiko Nishimura, Satoru Shinkuma, Mika Watanabe, Kentaro Izumi, Hideki Nakamura, Yoshiaki Hirako, Hiroshi Shimizu
Plectin is a linker protein that interacts with intermediate filaments and β4 integrin in hemidesmosomes of the epidermal basement membrane zone (BMZ). Type XVII collagen (COL17) has been suggested as another candidate plectin binding partner in hemidesmosomes. Here, we demonstrate that plectin-COL17 binding helps to maintain epidermal BMZ organization. We identified an epidermolysis bullosa (EB) simplex patient as having markedly diminished expression of plectin and COL17 in skin. The patient is compound heterozygous for sequence variants in the plectin gene ( PLEC); one is a truncation and the other is a small in-frame deletion sequence variant...
September 23, 2017: Human Mutation
https://www.readbyqxmd.com/read/28938739/sequence-variants-of-khdrbs1-as-high-penetrance-susceptibility-risks-for-primary-ovarian-insufficiency-by-mis-regulating-mrna-alternative-splicing
#2
Binbin Wang, Lin Li, Ying Zhu, Wei Zhang, Xi Wang, Beili Chen, Tengyan Li, Hong Pan, Jing Wang, Kehkooi Kee, Yunxia Cao
STUDY QUESTION: Does a novel heterozygous KHDRBS1 variant, identified using whole-exome sequencing (WES) in two patients with primary ovarian insufficiency (POI) in a pedigree, cause defects in mRNA alternative splicing? SUMMARY ANSWER: The heterozygous variant of KHDRBS1 was confirmed to cause defects in alternative splicing of many genes involved in DNA replication and repair. WHAT IS KNOWN ALREADY: Studies in mice revealed that Khdrbs1 deficient females are subfertile, which manifests as delayed sexual maturity and significantly reduced numbers of secondary and pre-antral follicles...
October 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28938491/inhibition-of-fgfr-signaling-partially-rescues-hypophosphatemic-rickets-in-hmwfgf2-tg-male-mice
#3
Liping Xiao, Erxia Du, Collin Homer-Bouthiette, Marja M Hurley
Transgenic mice harboring high molecular weight FGF2 isoforms (HMWTg) in osteoblast lineage cells phenocopy human X-linked hypophosphatemic rickets (XLH) and Hyp murine model of XLH demonstrating increased FGF23/FGF receptor signaling and hypophosphatemic rickets. Since HMWFGF2 was upregulated in bones of Hyp mice and abnormal FGF receptor (FGFR) signaling is important in XLH, HMWTg mice were used to examine the effect of the FGFR inhibitor NVP-BGJ398, now in clinical trials for cancer therapy, on hypophosphatemic rickets...
August 14, 2017: Endocrinology
https://www.readbyqxmd.com/read/28938483/varying-susceptibility-of-the-female-mammary-gland-to-in-utero-windows-of-bpa-exposure
#4
Andrea R Hindman, Xiaokui Molly Mo, Hannah L Helber, Claire E Kovalchin, Nanditha Ravichandran, Alina R Murphy, Abigail M Fagan, Pamela M St John, Craig J Burd
In utero exposure to the endocrine disrupting compound bisphenol A (BPA) is known to disrupt mammary gland development and increase tumor susceptibility in rodents. It is unclear if there are different periods of in utero development that may be more susceptible to BPA exposure. Herein, pregnant CD-1 mice were exposed to BPA at different times during gestation that correspond to specific milestones of in utero mammary gland development. Mammary glands of early-life and adult female mice, exposed in utero to BPA, were morphologically and molecularly (ERα and Ki67) evaluated for developmental abnormalities...
August 9, 2017: Endocrinology
https://www.readbyqxmd.com/read/28938458/corticotroph-pituitary-carcinoma-in-a-patient-with-lynch-syndrome-ls-and-pituitary-tumors-in-a-nationwide-ls-cohort
#5
Daniel Bengtsson, Patrick Joost, Christos Aravidis, Marie Askmalm Stenmark, Ann-Sofie Backman, Beatrice Melin, Jenny von Salomé, Theofanis Zagoras, Samuel Gebre-Medhin, Pia Burman
Context: Lynch syndrome is a cancer predisposing syndrome caused by germline mutations in genes involved in DNA mismatch repair (MMR). Patients are at high risk for several types of cancer, but pituitary tumors have not previously been reported. Case: A 51-year old man with LS (MSH2 mutation) and a history of colon carcinoma presented with severe Cushing's disease and a locally aggressive pituitary tumor. The tumor harbored a mutation consistent with the patient's germline mutation, and displayed defect MMR function...
August 18, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28938435/the-role-of-sequential-bmp-signaling-in-directing-human-embryonic-stem-cells-to-bipotential-gonadal-cells
#6
Kirsi Sepponen, Karolina Lundin, Katri Knuus, Pia Väyrynen, Taneli Raivio, Juha S Tapanainen, Timo Tuuri
Context: Human gonads arise as a pair of epithelial ridges on the surface of intermediate mesoderm (IM)-derived mesonephros. Toxic environmental factors and mutations in various genes are known to disturb normal gonadal development, but due to a lack of suitable in vitro models, detailed studies characterizing the molecular basis of the observed defects have not been performed. Objective: Our objective was to establish an in vitro method for studying differentiation of bipotential gonadal progenitors using human embryonic stem cells (hESCs), and to investigate the role of bone morphogenetic protein (BMP) in gonadal differentiation...
August 29, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28938432/mitochondrial-function-regulated-by-mitoguardin-1-2-is-crucial-for-ovarian-endocrine-functions-and-ovulation
#7
Xiao-Man Liu, Yin-Li Zhang, Shu-Yan Ji, Long-Wen Zhao, Wei-Na Shang, Dali Li, Zijiang Chen, Chao Tong, Heng-Yu Fan
The balances of mitochondrial dynamic changes, mitochondrial morphology, and mitochondrial number are critical in cell metabolism. Once disturbed, disorders in these processes generally cause diseases or even death in animals. We performed large-scale genetic screenings in fruit flies and discovered the new gene mitoguardin (miga) that encodes for a mitochondrial outer membrane protein. In order to examine the physiological functions of its mammalian homologs Miga1 and 2, we generated Miga1 and Miga2 single- and double-knockout mouse strains and found that the knockout mice were viable, but the females were subfertile...
August 23, 2017: Endocrinology
https://www.readbyqxmd.com/read/28938396/transgenic-expression-of-the-vitamin-d-receptor-restricted-to-the-ileum-cecum-and-colon-of-vitamin-d-receptor-knockout-mice-rescues-vitamin-d-receptor-dependent-rickets
#8
Puneet Dhawan, Vaishali Veldurthy, Ghassan Yehia, Connie Hsaio, Angela Porta, Ki-In Kim, Nishant Patel, Liesbet Lieben, Lieve Verlinden, Geert Carmeliet, Sylvia Christakos
Although the intestine plays the major role in 1,25-dihydroxyvitamin D3 (1,25(OH)2D3) action on calcium homeostasis, the mechanisms involved remain incompletely understood. The established model of 1,25(OH)2D3 regulated intestinal calcium absorption postulates a critical role for the duodenum. However it is the distal intestine where 70 -80% of the ingested calcium is absorbed. In order to test directly the role of 1,25(OH)2D3 and the vitamin D receptor (VDR) in the distal intestine, 3 independent knockout (KO) /transgenic (TG) lines expressing VDR exclusively in the ileum, cecum and colon were generated by breeding VDR KO mice with TG mice expressing human (h)VDR under the control of the 9...
September 11, 2017: Endocrinology
https://www.readbyqxmd.com/read/28938394/risk-factors-for-failure-of-bone-grafting-of-tibia-nonunions-and-segmental-bone-defects-a-new-preoperative-risk-assessment-score
#9
Michael A Maceroli, Mark J Gage, Brent T Wise, Daniel Connelly, Katherine Ordonio, Renan C Castillo, Molly P Jarman, Jason W Nascone, Robert V OʼToole, Marcus F Sciadini
OBJECTIVE: To develop a clinically useful prediction model of success at the time of surgery to promote bone healing for established tibial nonunion or traumatic bone defects. DESIGN: Retrospective case controlled. SETTING: Level 1 trauma center. PATIENTS: Adult patients treated with surgery for established tibia fracture nonunion or traumatic bone defects from 2007 to 2016. Two hundred three patients met the inclusion criteria and were available for final analysis...
October 2017: Journal of Orthopaedic Trauma
https://www.readbyqxmd.com/read/28938393/ilizarov-treatment-protocols-in-the-management-of-infected-nonunion-of-the-tibia
#10
Martin McNally, Jamie Ferguson, Raj Kugan, David Stubbs
OBJECTIVES: We present a treatment algorithm comprising 4 Ilizarov methods in managing infected tibial nonunion, using nonunion mobility and segmental defect size to govern treatment choice. DESIGN: Decision protocol analysis study. SETTING: A university-affiliated teaching hospital. PATIENTS/PARTICIPANTS: Seventy-nine patients were treated with 1 of 4 Ilizarov protocols. All patients had undergone at least one previous operation, 38 had associated limb deformity, and 49 had nonviable nonunions...
October 2017: Journal of Orthopaedic Trauma
https://www.readbyqxmd.com/read/28938392/segmental-bone-loss-reconstruction-using-ring-fixation
#11
Stephen M Quinnan
Ring fixation is a powerful tool in the treatment of bone defects. The ability to create high-quality, biologically normal new bone of even massive proportions using distraction osteogenesis is a major reason for its success. In addition, ring fixation provides the ability to limit the risk of deep infection, improves flexibility in limb length control and alignment, and increases soft tissue coverage options. The drawbacks of ring fixation include long frame times, pin problems, risk of joint contractures, and difficult usage in areas with a large soft tissue envelope such as the thigh...
October 2017: Journal of Orthopaedic Trauma
https://www.readbyqxmd.com/read/28938391/all-internal-segmental-bone-transport-and-optional-lengthening-with-a-newly-developed-universal-cylinder-kombi-tube-module-for-motorized-nails-description-of-a-surgical-technique
#12
Christian Krettek, Ashraf El Naga
Segmental transport is an effective method of treatment for segmental defects, but the need for external fixation during the transport phase is a disadvantage. To avoid external fixation, we have developed a Cylinder-Kombi-Tube Segmental Transport (CKTST) module for combination with a commercially available motorized lengthening nail. This CKTST module allows for an all-internal segmental bone transport and also allows for optional lengthening if needed. The concept and surgical technique of CKTST are described and illustrated with a clinical case...
October 2017: Journal of Orthopaedic Trauma
https://www.readbyqxmd.com/read/28938390/induced-membrane-technique-pearls-and-pitfalls
#13
Alain C Masquelet
The induced membrane technique for reconstruction of bone defects has proved its effectiveness and is now widely accepted. The 2 stages procedure, implying a cement spacer in the first stage and a huge bone graft in the second stage, responds to rigorous technical details involving each phase of the procedure. Prerequisites for the technique, cement spacer, bone fixation, time between the 2 stages, grafting, and postoperative course are reported and discussed.
October 2017: Journal of Orthopaedic Trauma
https://www.readbyqxmd.com/read/28938389/shortening-and-angulation-strategies-to-address-composite-bone-and-soft-tissue-defects
#14
Sarah N Pierrie, Joseph R Hsu
Gustilo-Anderson IIIB tibial fractures and infected tibial nonunions represent particular challenges for the orthopaedic trauma surgeon. Debridement of dysvascular bone and soft tissues can create composite bone and soft tissue defects. Restoring the soft tissue envelope is a critical step in preventing or treating ongoing infection and in restoring local blood supply. Shortening and angulation techniques, including the gradual expansion muscle flap, rely on distraction histogenesis to address composite bone and soft tissue loss...
October 2017: Journal of Orthopaedic Trauma
https://www.readbyqxmd.com/read/28938388/biological-facet-of-segmental-bone-loss-reconstruction
#15
Theodoros H Tosounidis, Peter V Giannoudis
The management of long bone defects continues to be associated with significant challenges for optimum and timely bone repair. When bone grafting is needed, essential parameters to be addressed include adequate volume, optimum density, and structural capacity as well as potent biological properties. Although the autologous iliac crest bone graft remains the gold standard, its reduced availability and donor site morbidity have made the clinicians to seek for other alternative options. Reamer irrigator aspirator graft with materials used as graft expanders along with inductive molecules and cellular augmentation constitute the current trend for optimum bone regeneration...
October 2017: Journal of Orthopaedic Trauma
https://www.readbyqxmd.com/read/28938387/critical-sized-bone-defects-sequence-and-planning
#16
Paul Toogood, Theodore Miclau
Bone defects associated with open fractures require a careful approach and planning. At initial presentation, an emergent irrigation and debridement is required. Immediate definitive fixation is frequently safe, with the exception of those injuries that normally require staged management or very severe type IIIB and IIIC injuries. Traumatic wounds that can be approximated primarily should be closed at the time of initial presentation. Wounds that cannot be closed should have a negative pressure wound therapy dressing applied...
October 2017: Journal of Orthopaedic Trauma
https://www.readbyqxmd.com/read/28938386/size-matters-defining-critical-in-bone-defect-size
#17
Emil H Schemitsch
Bone defects are common and are associated with a significant burden of disease. The treatment of these injuries remains controversial, particularly those defects which are critical sized. Despite the need for decision making to be evidence based, a lack of consensus around definitions of critical-sized defects still exists, particularly around those defects in the 1-3 cm range. There is a need to define "critical" in bone defect size because noncritical defects may heal without planned reconstruction and secondary surgery...
October 2017: Journal of Orthopaedic Trauma
https://www.readbyqxmd.com/read/28938385/preoperative-evaluation-and-optimization-for-reconstruction-of-segmental-bone-defects-of-the-tibia
#18
Philip K McClure, Hamza M Alrabai, Janet D Conway
Reconstruction of segmental bone defects requires a large commitment both on the part of the patient and the physician. Investing in preoperative evaluation and optimization is the only logical way to pursue such an endeavor. Unfortunately, detailed studies regarding segmental bone defects and preoperative factors are relatively lacking owing to the relatively low incidence of the problem. Fortunately, other orthopaedic pathologies (arthritis, ligamentous injuries about the knee) have high prevalence and consistency, allowing detailed analysis of preoperative factors...
October 2017: Journal of Orthopaedic Trauma
https://www.readbyqxmd.com/read/28938384/-iatrogenic-segmental-defect-how-i-debride-high-energy-open-tibial-fractures
#19
Brendan R Southam, Michael T Archdeacon
High-energy, open tibial shaft fractures may result in significant comminution, bone loss, and soft tissue injuries. Early, thorough debridement of all nonviable tissue is of critical importance in treating these fractures as an inadequate initial debridement increases the risk of infection and nonunion. Large iatrogenic bone and soft tissue defects can result from debridement and will require subsequent reconstruction by both orthopaedic and plastic surgeons. Although a variety of approaches exist to address these reconstructions, successful management of bone defects remains a considerable challenge...
October 2017: Journal of Orthopaedic Trauma
https://www.readbyqxmd.com/read/28938383/scientific-understanding-of-the-induced-membrane-technique-current-status-and-future-directions
#20
Michael A Yee, Matthew P Mead, Andrea I Alford, David J Hak, Cyril Mauffrey, Mark E Hake
OBJECTIVES: To review the most recent basic science advances made in relation to the induced membrane technique and how those relate to clinical practice, applications, and future research directions. DESIGN: Review of the literature. SETTING: Any trauma center which might encounter large segmental bone defects. ARTICLES REVIEWED: Basic science articles that looked at characteristics of the induced membrane published in the past 30 years...
October 2017: Journal of Orthopaedic Trauma
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