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https://www.readbyqxmd.com/read/28329661/predictors-of-actinic-keratosis-count-in-those-with-multiple-keratinocyte-carcinomas
#1
Julia A Siegel, Adam J Luber, Martin A Weinstock
Actinic keratoses (AKs) are frequently treated in the U.S., impacting an estimated 40 million people in 2004 and costing over $1 billion annually. AKs are a major public health concern because of their high prevalence, substantial cost, and potential for malignant transformation to keratinocyte carcinoma (KC). In this analysis, predictors of AK count were explored using pre-randomization baseline data from two large randomized trials of veterans with multiple prior KCs (n=932 and n=1131). Multivariate analyses were conducted to elucidate associations between AK count and several demographic and health related factors...
September 15, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/28329564/polydactyly-in-neurofibromatosis-type-i-a-potential-clue-to-diagnosis
#2
Kate L Kimes, Marie J Han, Patrick J Brown
Neurofibromatosis type 1 is a genetic disorder characterized by variable phenotypic manifestations. The diagnostic criteria, 25 established in 1987, are broad to encompass these pleiotropic findings. Included are the specific osseous manifestations of 26 sphenoid dysplasia and dysplasia or thinning of the cortex of long bones. This review highlights recent evidence on the role of 27 neurofibromin in bone development and suggests consideration for additional diagnostic criteria.
November 15, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/28329361/sex-hormones-affect-outcome-in-arrhythmogenic-right-ventricular-cardiomyopathy-dysplasia-from-a-stem-cell-derived-cardiomyocyte-based-model-to-clinical-biomarkers-of-disease-outcome
#3
Deniz Akdis, Ardan M Saguner, Khooshbu Shah, Chuanyu Wei, Argelia Medeiros-Domingo, Arnold von Eckardstein, Thomas F Lüscher, Corinna Brunckhorst, H S Vincent Chen, Firat Duru
Aims: Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is characterized by fibrofatty infiltration of the myocardium and ventricular arrhythmias that may lead to sudden cardiac death. It has been observed that male patients develop the disease earlier and present with more severe phenotypes as compared to females. Thus, we hypothesized that serum levels of sex hormones may contribute to major arrhythmic cardiovascular events (MACE) in patients with ARVC/D. Methods and results: The serum levels of five sex hormones, sex hormone-binding globulin, high sensitivity troponin T, pro-brain natriuretic peptide, cholesterol, triglycerides, insulin, and glucose were measured in 54 ARVC/D patients (72% male)...
February 18, 2017: European Heart Journal
https://www.readbyqxmd.com/read/28328823/a-case-report-of-pycnodysostosis-with-atypical-femur-fracture-diagnosed-by-next-generation-sequencing-of-candidate-genes
#4
Hyung Keun Song, Young Bae Sohn, Yong Jun Choi, Yoon-Sok Chung, Ja-Hyun Jang
RATIONALE: Pycnodysostosis is a rare autosomal recessive skeletal dysplasia characterized by short stature, craniofacial dysmorphism, acro-osteolysis, osteosclerosis, and brittle bone with poor healing. Pycnodysostosis results from the deficient activity of cathepsin K, a lysosomal cysteine protease that is encoded by CTSK. PATIENT CONCERNS: We report a Korean adult patient with pycnodysostosis and atypical femur fracture whose diagnosis was confirmed by next-generation sequencing (NGS) of candidate genes...
March 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28328566/physeal-and-subphyseal-distraction-osteogenesis-in-atrophic-type-congenital-pseudarthrosis-of-the-tibia-efficacy-and-safety
#5
Woo Young Jang, Yoon Hyo Choi, Moon Seok Park, Won Joon Yoo, Tae-Joon Cho, In Ho Choi
PURPOSE: To examine the efficacy, safety, and clinical outcomes of distraction osteogenesis through the physis (PDO) or through subphyseal osteotomy (SPDO) in patients with atrophic-type congenital pseudarthrosis of tibia with proximal tibial dysplasia. METHODS: To validate the efficacy and safety of PDO and SPDO, radiographic and clinical parameters were compared between 5 patients who underwent proximal tibial metaphyseal or metadiaphyseal lengthening as a control (group 1) and 7 patients who underwent PDO or SPDO (group 2)...
March 21, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28328561/does-orientation-of-the-femoral-head-affect-acetabular-development-an-experimental-study-in-lamb
#6
Luis Moraleda, Christian Bravo, Francisco Forriol, Javier Albiñana
BACKGROUND: Derotational osteotomy of the proximal femur has proved to be effective in the treatment of residual acetabular dysplasia. However, the reason why this osteotomy is effective remains debatable. The purpose of this study is to investigate if an alteration of femoral head orientation affects acetabular growth. METHODS: A proximal femoral osteotomy was performed in 21 lambs aged 3 months: 5 varus osteotomies (110 degrees), 4 valgus osteotomies (150 degrees), and 12 derotation osteotomies...
March 21, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28328139/long-term-survival-of-a-patient-with-perlman-syndrome-due-to-novel-compound-heterozygous-missense-mutations-in-rnb-domain-of-dis3l2
#7
Noriko Soma, Ken Higashimoto, Masaru Imamura, Akihiko Saitoh, Hidenobu Soejima, Keisuke Nagasaki
Perlman syndrome is a rare overgrowth syndrome characterized by polyhydramnios, macrosomia, distinctive facial appearance, renal dysplasia, and a predisposition to Wilms' tumor. The syndrome is often associated with a high neonatal mortality rate and there are few reports of long-term survivors. We studied a 6-year-old Japanese female patient, who was diagnosed with Perlman syndrome, with novel compound heterozygous mutations in DIS3L2 (c.[367-2A > G];[1328T > A]), who has survived long term. Most reported DIS3L2 mutations have been the homozygous deletion of exon 6 or exon 9, and these mutations would certainly have caused the loss of both RNA binding and degradation activity...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28328135/confirmation-of-cagsss-syndrome-as-a-distinct-entity-in-a-danish-patient-with-a-novel-homozygous-mutation-in-iars2
#8
Shahida Moosa, Annette Haagerup, Pernille Axel Gregersen, Karin Kastberg Petersen, Janine Altmüller, Holger Thiele, Peter Nürnberg, Tae-Joon Cho, Ok-Hwa Kim, Gen Nishimura, Bernd Wollnik, Ida Vogel
Since the original description of the IARS2-related cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome (CAGSSS; OMIM 616007) in an extended consanguineous family of French-Canadian descent, no further patients have been reported. IARS2 (OMIM 612801) encodes the mitochondrial isoleucine-tRNA synthetase which belongs to the class-I aminoacyl-tRNA synthetase family, and has been implicated in CAGSSS and a form of Leigh syndrome. Here, we report on a female Danish patient with a novel homozygous IARS2 mutation, p...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28328130/targeted-molecular-investigation-in-patients-within-the-clinical-spectrum-of-auriculocondylar-syndrome
#9
Vanessa L Romanelli Tavares, Roseli M Zechi-Ceide, Debora R Bertola, Christopher T Gordon, Simone G Ferreira, Gabriella S P Hsia, Guilherme L Yamamoto, Suzana A M Ezquina, Nancy M Kokitsu-Nakata, Siulan Vendramini-Pittoli, Renato S Freitas, Josiane Souza, Cesar A Raposo-Amaral, Mayana Zatz, Jeanne Amiel, Maria L Guion-Almeida, Maria Rita Passos-Bueno
Auriculocondylar syndrome, mainly characterized by micrognathia, small mandibular condyle, and question mark ears, is a rare disease segregating in an autosomal dominant pattern in the majority of the families reported in the literature. So far, pathogenic variants in PLCB4, GNAI3, and EDN1 have been associated with this syndrome. It is caused by a developmental abnormality of the first and second pharyngeal arches and it is associated with great inter- and intra-familial clinical variability, with some patients not presenting the typical phenotype of the syndrome...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28327888/fibromuscular-dysplasia-unusual-cause-of-abdominal-pain
#10
M Alonso-Alcañiz, J M Antolín, J R Rebolledo, C Muñoz-Montano
Spontaneous dissection of the renal artery is a rare phenomenon, and is more common amongst men. It is not a frequent cause of abdominal pain², which is why diagnosis is often late. The case under study is a 45 year old patient that presented sudden pain in the left renal fossa of 12 hours evolution, with no findings from the basic laboratory tests (lab testing, urinary sediment and ultrasound), an abdominal CAT was therefore carried out, which showed areas of renal infarction, as well as an emergency arteriogram, which gave findings of a possible Fibromuscular Dysplasia of the left intrarenal artery as the first diagnostic probability with a partially thrombosed focal dissection...
June 2017: Revista Española de Sanidad Penitenciaria
https://www.readbyqxmd.com/read/28327142/exome-sequencing-identified-rare-variants-in-genes-hspg2-and-atp2b4-in-a-family-segregating-developmental-dysplasia-of-the-hip
#11
Sulman Basit, Alia M Albalawi, Essa Alharby, Khalid I Khoshhal
BACKGROUND: Developmental dysplasia of the hip (DDH) is a common pathological condition of the musculoskeletal system in infants which results in a congenital and developmental malformation of the hip joint. DDH is a spectrum of pathologies affecting the infant hip ranging from asymptomatic subtle radiographic signs through mild instability to frank dislocations with acetabular dysplasia. A Saudi family with three affected individuals with DDH was identified and genetic analysis was performed to detect the possible genetic defect(s) underlying DDH in the affected members of the family...
March 21, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28326564/parental-serum-alkaline-phosphatase-activity-as-an-auxiliary-tool-for-prenatal-diagnosis-of-hypophosphatasia
#12
Yuichiro Takahashi, Hideaki Sawai, Jun Murotsuki, Shuhei Satoh, Takahiro Yamada, Hiromi Hayakawa, Yutaka Kouduma, Masakatsu Sase, Atsushi Watanabe, Osamau Miyazaki, Gen Nishimura
OBJECTIVE: To clarify the usefulness of parental Alkaline phosphatase (ALP) for prenatal diagnosis of hypophosphatasia (HPP). METHODS: Maternal (m) and paternal (p) ALP values were measured in 77 cases from A multi-center cohort (fetal-skeletal dysplasia forum in Japan) of cases with short limbs on ultrasonography during pregnancy. After birth, X-rays, cord blood ALP, and gene analysis were evaluated to achieve an exact diagnosis. The screening usefulness of ALP was examined retrospectively...
March 22, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28326425/bilateral-pelvic-discontinuity-a-unique-condition-characterized-by%C3%A2-high-failure-rates-of-current-treatment
#13
John R Martin, Ian Barrett, Rafael J Sierra, David G Lewallen, Daniel J Berry
BACKGROUND: Bilateral pelvic discontinuity is characterized by complete dissociation of the superior and inferior pelvis secondary to bone loss or fracture. The end result is a freely mobile inferior pelvis at the level of each discontinuity which presents a significant reconstruction challenge. This clinical entity has not been described previously, and the results of surgical treatment are not known. METHODS: We retrospectively reviewed all identified cases of pelvic discontinuity (PD) treated with revision THA at one institution...
December 2016: Arthroplasty Today
https://www.readbyqxmd.com/read/28326400/staged-total-hip-arthroplasty-in-a-patient-with-hip-dysplasia-and-a-large-pertrochanteric-bone-cyst
#14
Joseph R Langston, Alexander M DeHaan, Thomas W Huff
Hip arthroplasty in young patients requires thoughtful preoperative planning. Patients with proximal femoral bone loss complicate this planning and may require a staged procedure to optimize implant insertion. We report on a case of a 26-year-old woman with secondary hip arthritis from developmental dysplasia of the hip and a large pertrochanteric bone cyst that was treated with staged total hip arthroplasty. The cyst was decompressed and filled with an osteoconductive and osteoinductive bone graft substitute called EquivaBone...
June 2016: Arthroplasty Today
https://www.readbyqxmd.com/read/28326337/a-case-of-infantile-osteopetrosis-the-radioclinical-features-with-literature-update
#15
Tamer Ahmed El-Sobky, Ezzat Elsobky, Ismaiel Sadek, Solaf M Elsayed, Mohamed Fawzy Khattab
BACKGROUND: Osteopetrosis is a rare hereditary metabolic bone disorder characterized by generalized skeletal sclerosis caused by a defect in bone resorption and remodelling. Infantile autosomal recessive osteopetrosis is one of three subtypes of osteopetrosis and the most severe form. The correct and early diagnosis of infantile osteopetrosis is important for management of complications and for future genetic counselling. Diagnosis is largely based on clinical and radiographic evaluation, confirmed by gene testing where applicable...
June 2016: Bone Reports
https://www.readbyqxmd.com/read/28325827/sessile-serrated-polyps-and-colon-cancer-prevention
#16
Shahrooz Rashtak, Rafaela Rego, Seth R Sweetser, Frank A Sinicrope
Evidence suggests that up to one fifth of colorectal carcinomas (CRC) develop from serrated polyps, named for their pattern of colonic crypts, and include the sessile serrated adenoma/polyp (SSA/P) that has malignant potential. SSA/Ps are typically located in the proximal colon and have molecular features of hypermethylation of CpG islands in gene promoters and activating point mutations (V600E) in the BRAF oncogene. Both of these features are seen in sporadic CRCs with microsatellite instability (MSI) which is potentially consistent with an origin of these cancers from precursor SSA/Ps...
March 21, 2017: Cancer Prevention Research
https://www.readbyqxmd.com/read/28325581/prenatal-prediction-of-pulmonary-hypoplasia
#17
REVIEW
Jourdan E Triebwasser, Marjorie C Treadwell
Pulmonary hypoplasia, although rare, is associated with significant neonatal morbidity and mortality. Conditions associated with pulmonary hypoplasia include those which limit normal thoracic capacity or movement, including skeletal dysplasias and abdominal wall defects; those with mass effect, including congenital diaphragmatic hernia and pleural effusions; and those with decreased amniotic fluid, including preterm, premature rupture of membranes, and genitourinary anomalies. The ability to predict severe pulmonary hypoplasia prenatally aids in family counseling, as well as obstetric and neonatal management...
March 15, 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28325424/surgical-treatment-of-carpal-boss-by-simple-resection-results-in-25%C3%A2-cases-at-a-mean-of-8%C3%A2-years-follow-up
#18
S Roulet, G Bacle, E Marteau, J Laulan
Carpal boss is a symptomatic bony protrusion on the dorsal surface of the wrist at the base of the 2nd and/or 3rd metacarpal. The goal of this study was to assess the reliability and safety of simply resecting the exostosis. From 1994 to 2014, 29 cases of carpal boss were treated by simple resection. Twenty-five of these patients were subsequently assessed by telephone questionnaire at a mean of 8 years' follow-up (range 1.1 to 20 years). There were no cases of recurrence; however, 1 patient reported carpometacarpal instability requiring fusion, 5 years after surgery...
April 2017: Hand Surgery and Rehabilitation
https://www.readbyqxmd.com/read/28323209/sox9-a-genomic-view-of-tissue-specific-expression-and-action
#19
Aleisha Symon, Vincent Harley
The SOX9 transcription factor controls cell differentiation of many cell types among vertebrates. The SOX9 gene locus is large and complex and contains various tissue-specific enhancers. Individual enhancers direct specific expression of SOX9 in chondrocytes, Sertoli cells and cranial neural crest cells. Human SOX9 mutations can lead to either the complete Campomelic Dysplasia syndrome, or isolated clinical features, depending upon whether the mutation occurs in the coding region or in regulatory regions. Chromatin Immunoprecipitation has helped to define SOX9 control of target gene expression at the genome wide level in hair follicle stem cells and in chondrocytes where SOX9 binds at super-enhancers...
March 16, 2017: International Journal of Biochemistry & Cell Biology
https://www.readbyqxmd.com/read/28322853/the-role-of-histopathologic-subtype-in-the-setting-of-hippocampal-sclerosis-associated-mesial-temporal-lobe-epilepsy
#20
Jordan M Gales, Lara Jehi, Amy Nowacki, Richard A Prayson
Hippocampal sclerosis (HS) and focal cortical dysplasia (FCD) are among the most common neuropathological findings in those undergoing surgery for refractory mesial temporal lobe epilepsy (MTLE). Existing data regarding differences among the most recent International League Against Epilepsy (ILAE) HS subtypes remains limited. This study sought to characterize the roles of HS subtype and coexistent FCD. Epilepsy surgery pathologic specimens in 307 cases of temporal lobe epilepsy with HS were reviewed (mean age ± SD, 37 ± 15 years, 56% women)...
March 17, 2017: Human Pathology
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