164,403 results match your criteria case combined

Az achondroplasia a fogszabályozás szemszögéből.

Orv Hetil 2021 Apr 10;162(17):683-688. Epub 2021 Apr 10.

3 Heim Pál Országos Gyermekgyógyászati Intézet, Alvásdiagnosztikai és Terápiás Labor, Budapest.

Összefoglaló. Az achondroplasia kialakulásáért az FGFR3-gén mutációja tehető felelőssé, mely a porc növekedési lemezében található chondrocyták érésében okoz zavart. Az esetbemutatásban szereplő lánygyermeknél a születést követő első hónapban a klinikai, laboratóriumi és röntgenvizsgálatok alapján achondroplasia igazolódott. Read More

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White-Sutton syndrome with hot water epilepsy and coexistence of SHOX gene variations.

Acta Neurol Belg 2021 Apr 10. Epub 2021 Apr 10.

Department of Medical Genetics, Duzce University Medical Faculty, Duzce, Turkey.

The purpose of this study is to reveal the effect on the clinical phenotype of variants detected at family examination of a case of combined pogo transposable element derived with zinc finger domain (POGZ) gene, tubulin folding cofactor E (TBCE) gene, and short stature homeobox (SHOX) gene variation. A Turkish non-consanguineous family consisting of five members was investigated. Whole exome sequence analysis and chromosomal microarray analysis (CMA) were performed for a 2-year-old male patient (the proband) with global developmental delay, hypotonia, dysmorphia, and hot water epilepsy. Read More

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Applying evidence-based methods to the development and use of adverse outcome pathways.

ALTEX 2021 Apr 8. Epub 2021 Apr 8.

Evidence-Based Toxicology Collaboration (EBTC) at Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA.

The workshop "Application of evidence-based methods to construct mechanistic frameworks for the development and use of non-animal toxicity tests" was organized by the Evidence-based Toxicology Collaboration and hosted by the Grading of Recommendations Assessment, Development and Evaluation Working Group on June 12, 2019. The purpose of the workshop was to bring together international regulatory bodies, risk assessors, academic scientists, and industry to explore how systematic review methods and the adverse outcome pathway framework could be combined to develop and use mechanistic test methods for predicting the toxicity of chemical substances in an evidence-based manner. The meeting covered the history of biological frameworks, the way adverse outcome pathways are currently developed, the basic principles of systematic methodology, including systematic reviews and evidence maps, and assessment of certainty in models, and adverse outcome pathways in particular. Read More

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Understanding drivers of wild oyster population persistence.

Sci Rep 2021 Apr 9;11(1):7837. Epub 2021 Apr 9.

Centre for Environment, Fisheries and Aquaculture Science, International Centre of Excellence for Aquatic Animal Health, Weymouth, DT4 8UB, UK.

Persistence of wild Pacific oyster, Magallana gigas, also known as Crassostrea gigas, has been increasingly reported across Northern European waters in recent years. While reproduction is inhibited by cold waters, recent warm summer temperature has increased the frequency of spawning events. Although correlation between the increasing abundance of Pacific oyster reefs in Northern European waters and climate change is documented, persistence of wild populations may also be influenced by external recruitment from farmed populations and other wild oyster populations, as well as on competition for resources with aquaculture sites. Read More

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Spatio-temporal evolution and influencing mechanism of the COVID-19 epidemic in Shandong province, China.

Sci Rep 2021 Apr 9;11(1):7811. Epub 2021 Apr 9.

College of Urban and Environmental Sciences, Northwest University, Xi'an, 710127, China.

The novel coronavirus pneumonia (COVID-19) outbreak that emerged in late 2019 has posed a severe threat to human health and social and economic development, and thus has become a major public health crisis affecting the world. The spread of COVID-19 in population and regions is a typical geographical process, which is worth discussing from the geographical perspective. This paper focuses on Shandong province, which has a high incidence, though the first Chinese confirmed case was reported from Hubei province. Read More

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Effects of general anaesthesia during pregnancy on neurocognitive development of the fetus: a systematic review and meta-analysis.

Br J Anaesth 2021 Apr 6. Epub 2021 Apr 6.

Department of Anaesthesiology, UZ Leuven, Leuven, Belgium; Department of Cardiovascular Sciences, Group Biomedical Sciences, KU Leuven, Leuven, Belgium. Electronic address:

Background: The US Food and Drug Administration warned that exposure of pregnant women to general anaesthetics may impair fetal brain development. This review systematically evaluates the evidence underlying this warning.

Methods: PubMed, EMBASE, and Web of Science were searched from inception until April 3, 2020. Read More

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Airborne Benzo[a]Pyrene may contribute to divergent Pheno-Endotypes in children.

Environ Health 2021 Apr 9;20(1):40. Epub 2021 Apr 9.

Department of Genetic Toxicology and Nanotoxicology, Institute of Experimental Medicine, Czech Academy of Sciences, Prague, Czech Republic.

Background: Asthma represents a syndrome for which our understanding of the molecular processes underlying discrete sub-diseases (i.e., endotypes), beyond atopic asthma, is limited. Read More

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A clinical decision model based on machine learning for ptosis.

BMC Ophthalmol 2021 Apr 9;21(1):169. Epub 2021 Apr 9.

Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Background: To establish a decision model based on two- (2D) and three-dimensional (3D) eye data of patients with ptosis for developing personalized surgery plans.

Methods: Data of this retrospective, case-control study was collected from March 2019 to June 2019 at the Department of Ophthalmology, Shanghai Ninth People's Hospital, and then the patients were followed up for 3 months. One hundred fifty-two complete feature eyes from 100 voluntary patients with ptosis and satisfactory surgical results were selected, with 48 eyes excluded due to any severe condition or improper collection and shooting angle. Read More

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Extreme stiff knee recurvatum following manipulation under anesthesia and botulinum neurotoxin injection.

Knee 2021 Apr 6;30:35-40. Epub 2021 Apr 6.

Department of Orthopaedic Surgery, Medical School, Democritus University of Thrace, University General Hospital of Alexandroupolis, Alexandroupolis, Greece.

In this article we report a case of stiff, neglected extreme recurvatum knee deformity in a 17-year-old female. This is the first reported case in the literature of an acquired ligamentous stiff extreme knee recurvatum following manipulation under anesthesia and botulinum neurotoxin injection. Μodified Judet quadricepsplasty combined with Ilizarov external hinged frame fixation was implemented. Read More

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Combined Complex Skin Repair in Patient With Extensive Burns: A Case Report.

J Burn Care Res 2021 Apr 9. Epub 2021 Apr 9.

Department of Medical Cosmetology, The Second Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi Zhuang Autonomous, China.

Auto-skin grafting is the current treatment of choice for extensive burns. Nevertheless, the lack of donor sites for skin grafting remains one of the greatest limiting factors for the treatment of extensively burned patients. We present the case of a 53-year-old male patient with deep and full thickness burns on 91% of the total body surface area. Read More

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Significance of extended sports cardiology screening of elite handball referees.

PLoS One 2021 9;16(4):e0249923. Epub 2021 Apr 9.

Heart and Vascular Center, Semmelweis University, Budapest, Hungary.

The significance of cardiology screening of referees is not well established. Cardiovascular risk factors and diseases were examined in asymptomatic Hungarian elite handball referees undergoing extended screening: personal/family history, physical examination, 12-lead ECG, laboratory tests, body-composition analysis, echocardiography, and cardiopulmonary exercise testing. Holter-ECG (n = 8), blood pressure monitorization (n = 10), cardiac magnetic resonance imaging (CMR; n = 27) and computer tomography (CCT; n = 4) were also carried out if needed. Read More

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Immediate Fixation Versus Late Osteotomy for an Unusual Scapula Body Fracture: A Report of 2 Cases.

JBJS Case Connect 2021 Apr 9;11(2). Epub 2021 Apr 9.

Department of Trauma and Orthopaedics, Royal Stoke University Hospital, Stoke on Trent, Staffordshire, United Kingdom.

Case: We present 2 unusual scapula fractures that do not meet published thresholds for surgical intervention; 1 initially managed surgically with a good functional result and 1 conservatively with a poor outcome. The second patient subsequently underwent osteotomy and fixation with good effect.

Conclusion: Despite not reaching published levels of displacement or angulation usually considered for surgical intervention, these cases demonstrate that combined patterns of scapula injury can cause functional disability if managed conservatively. Read More

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Novel dilated cardiomyopathy associated to Calreticulin and Myo7A gene mutation in Usher syndrome.

ESC Heart Fail 2021 Apr 9. Epub 2021 Apr 9.

MEBIC Consortium, San Raffaele Open University and IRCCS San Raffaele Pisana, Rome, Italy.

We report a novel cardiomyopathy associated to Usher syndrome and related to combined mutation of MYO7A and Calreticulin genes. A 37-year-old man with deafness and vision impairment because of retinitis pigmentosa since childhood and a MYO7A gene mutation suggesting Usher syndrome, developed a dilated cardiomyopathy with ventricular tachyarrhythmias and recurrent syncope. At magnetic resonance cardiomyopathy was characterized by left ventricular dilatation with hypo-contractility and mitral prolapse with valve regurgitation. Read More

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A surgical Case of Synchronous Multiple Primary Lung Cancers with Small Cell Carcinoma and Squamous Cell Carcinoma.

Tokai J Exp Clin Med 2021 Apr 20;46(1):29-32. Epub 2021 Apr 20.

Division of Thoracic Surgery, Tokai University Oiso Hospital, 21-1 Gakkyo, Oiso, Kanagawa 259-0198, Japan.

The incidence of synchronous multiple primary lung cancers has increased in recent years, however, there are few reports of cases involving small cell carcinoma. A 72-year-old man was referred to our department because of an abnormal shadow on chest radiography. He was receiving treatment for pulmonary fibrosis, emphysema, rheumatoid arthritis, and prostate cancer. Read More

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Benchmark of site- and structure-specific quantitative tissue N-glycoproteomics for discovery of potential N-glycoprotein markers: a case study of pancreatic cancer.

Glycoconj J 2021 Apr 9. Epub 2021 Apr 9.

School of Chemical Science & Engineering, Shanghai Key Laboratory of Chemical Assessment and Sustainability, Tongji University, Shanghai, 200092, China.

Pancreatic cancer is a highly malignant tumor of the digestive tract that is difficult to diagnose and treat. It is more common in developed countries and has become one of the main causes of death in some countries and regions. Currently, pancreatic cancer generally has a poor prognosis, partly due to the lack of symptoms in the early stages of pancreatic cancer. Read More

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Recurrent anti-NMDAR encephalitis during pregnancy combined with two antibodies positive.

Hong Liu Xiu Chen

Arch Womens Ment Health 2021 Apr 9. Epub 2021 Apr 9.

Department of Neurology, The Affiliated Hospital of Southwest Medical University, Luzhou, 646000, China.

Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is an autoimmune synaptic encephalitis likely mediated by neuronal surface antibody. Clinically, it is characterized by a variety of neurological and psychiatric symptoms, predominantly affecting young women. Recurrent anti-NMDAR cases combined with double-antibody positive during pregnancy have not been reported. Read More

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Successful salvage via re-osseointegration of a loosened implant in a patient with transtibial amputation.

Prosthet Orthot Int 2021 Feb;45(1):76-80

1Clinical Laboratory for Bionic Extremity Reconstruction, Department of Surgery, Medical University of Vienna, Vienna, Austria 2Division of Plastic and Reconstructive Surgery, Department of Surgery, Medical University of Vienna, Vienna, Austria 3Department of Bioengineering, Imperial College London, London, UK 4AUVA Trauma Hospital Lorenz Böhler-European Hand Trauma Center, Vienna, Austria 5Ludwig Boltzmann Institute for Experimental and Clinical Traumatology, AUVA Research Center, Vienna, Austria 6Sahlgrenska Academy, Gothenburg University, Gothenburg, Sweden 7Biomechatronics Group, Center for Extreme Bionics, MIT Media Lab, Massachusetts Institute of Technology, Cambridge, MA, USA.

Case Description: Osseointegration is a relatively new technique for prosthetic limb attachment that offers various improvements for patients with amputation and facilitates joint preservation. We present a case of implant loosening during rehabilitation in a patient with transtibial amputation that was successfully managed through a combination of measures, aiming to promote re-osseointegration of the implant.

Objectives: Not much is known about structured management of adverse events after osseointegration. Read More

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February 2021

[Clinical and genetic analysis of a child with 2q37 deletion syndrome resulting from a translocation involving chromosome satellite].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2021 Apr;38(4):373-375

Henan Provincial Key Laboratory for Children's Genetic and Metabolic Diseases, Children's Hospital Affiliated to Zhengzhou University, Henan Provincial Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, Henan 450018, China.

Objective: To carry out cyto- and molecular genetic testing for a child featuring facial dysmorphism and attention deficit and hyperactive disorder.

Methods: The child was subjected to routine peripheral blood lymphocyte chromosomal karyotyping, fluorescence in situ hybridization (FISH) and single nucleotide polymorphism array (SNP-array) analyses.

Results: The child's facial dysmorphism included low-set ears, curly ear auricle, protuberance of eyebrow arch, nostril notch, short and flat philtrum and thin upper lip. Read More

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[Effectiveness of non-invasive prenatal screening for the detection of fetal sex chromosome anomalies].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2021 Apr;38(4):325-328

Fujian Provincial Maternity and Child Health Care Hospital, the Affiliated Hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, Fujian 350001, China.

Objective: To evaluate the efficacy of non-invasive prenatal screening (NIPS) for fetal sex chromosome anomalies.

Methods: A retrospective analysis was carried out for 20 802 women undergoing NIPS screening. For 165 cases suspected for fetal sex chromosomal anomalies, the results of invasive prenatal diagnosis were obtained. Read More

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White Matter-Based Structural Brain Network of Major Depression.

Adv Exp Med Biol 2021 ;1305:35-55

Huaxi MR Research Center (HMRRC), Department of Radiology, West China Hospital of Sichuan University, Chengdu, Sichuan, China.

Major depressive disorder (MDD) is frequently characterized as a disorder of the disconnection syndrome. Diffusion tensor imaging (DTI) has played a critical role in supporting this view, with much investigation providing a large amount of evidence of structural connectivity abnormalities in the disorder. Recent research on the human connectome combined neuroimaging techniques with graph theoretic methods to highlight the disrupted topological properties of large-scale structural brain networks under depression, involving global metrics (e. Read More

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January 2021

Minimally invasive tubular laminectomies in multilevel spine surgery-an illustrative case-based review of techniques and combined approaches.

J Spine Surg 2021 Mar;7(1):83-99

Section of Neurosurgery, Cleveland Clinic Indian River Hospital, Vero Beach, FL, USA.

Minimally invasive techniques have become part of the spine surgeons' armamentarium and are currently utilized to treat many conditions involving the cervical, thoracic, lumbar and sacral spine. Surgical treatment of severe degenerative conditions such as multilevel spinal stenosis, tandem stenosis, combination of stenosis or disk herniation and spondylolisthesis at adjacent spinal levels, as well as extensive infections or hematomas, may require a multilevel tailored approach with all the challenges that such surgical planning entails. Although the use of minimally invasive tubular decompressive procedures has gained widespread popularity in the recent years, the adoption of such techniques during multilevel spine surgery can be at times challenging. Read More

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Perineal Turn over Perforator Flap: A Novel Surgical Technique for Combined Perineal and Posterior Vaginal Wall Reconstruction.

World J Plast Surg 2021 Jan;10(1):114-118

Department of Plastic Surgery - Royal Preston Hospital, Preston, UK.

Extralevator Abdominoperineal Excision (ELAPE) and Abdominoperineal Resection create complex perineal defects made more challenging when combined with additional resection of the posterior vaginal wall. This composite defect requires the restoration of a functional vagina, in addition to the obliteration of the large perineal dead space, a need to reduce donor site, and perineal wound morbidity. Previously described fasciocutaneous and myocutaneous flaps for such defects are associated with long operations requiring intra-operative mobilization and are linked to post-operative complications including herniation, evisceration, flap loss, donor site morbidity and poor cosmetic outcome, amongst other issues. Read More

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January 2021

Reinforcement and Compensatory Mechanisms in Attention-Deficit Hyperactivity Disorder: A Systematic Review of Case-Control Studies.

Cureus 2021 Mar 5;13(3):e13718. Epub 2021 Mar 5.

Internal Medicine, California Institute of Behavioral Neurosciences & Psychology, Fairfield, USA.

Attention-deficit hyperactivity disorder (ADHD) is a neuropsychological disorder that causes inattentiveness, hyperactivity, and impulsiveness in patients. Ventral striatal hypo-responsiveness, orbitofrontal cortex, and dopaminergic status in the brain are related to the pathogenesis of ADHD. Reinforcement tasks by monetary incentive delay (MID) was shown to produce more responsiveness in patients. Read More

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Simultaneous Combined Major Arterial and Lumbar Plexus Injury During Primary Extra Lateral Interbody Fusion: Case Report and Review of the Literature.

Cureus 2021 Mar 4;13(3):e13701. Epub 2021 Mar 4.

Orthopedics and Traumatology, General Hospital of Patras "Agios Andreas", Patras, GRC.

Extra lateral interbody fusion (XLIF) has been established in recent years as an effective approach to address degenerative lumbar disc disease (DLDD). Although neurological and vascular complications during XLIF have been reported, to our knowledge, a combination of simultaneous vascular and neurovascular complication during XLIF has not been reported to date. A 72-year-old female patient was admitted to our orthopaedic department because of back pain associated with severe neuropathic radicular pain to her both lower extremities, incomplete paraplegia and low back fistula with serous secretion for several weeks. Read More

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Unusual Presentation of a Sphenoidal Sinus Neuroendocrine Tumor: A Case Report and Review of Literature.

Cureus 2021 Mar 4;13(3):e13689. Epub 2021 Mar 4.

Hematology and Medical Oncology, Saint Joseph Mercy Oakland Hospital, Pontiac, USA.

Neuroendocrine tumors (NETs) have a heterogeneous pathology and indolent behavior, with the most common location being the gastrointestinal tract and then the lungs. The head and neck are rare sites of NET presentation with varied clinical signs and symptoms, which occasionally delay the diagnosis, thereby leading to an advanced stage at presentation. We present a rare case of paranasal sinus small cell neuroendocrine tumor and perform a review of the literature. Read More

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Transperineal core-needle biopsy of a rectal subepithelial lesion guided by endorectal ultrasound after contrast-enhanced ultrasound: A case report.

World J Gastroenterol 2021 Apr;27(13):1354-1361

Department of Gastroenterology, West China Hospital, Sichuan University, Chengdu 610041, Sichuan Province, China.

Background: Rectal subepithelial lesions (SELs) are commonly seen in endoscopic examination, generally manifested as bumps with a smooth surface. Precise preoperative diagnoses for rectal SELs are difficult because abnormal tissues are not easily to be obtained by regular endoscopic forceps biopsy. Traditional guidance modalities of preoperative biopsy, including endoscopic ultrasound, computed tomography, and transabdominal ultrasound, are often unsatisfactory. Read More

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Anatomic Variations and Malformations as Rare Causes of Median Nerve Compression in Adults: A Narrative Review.

Ann Plast Surg 2021 Mar 24. Epub 2021 Mar 24.

From the Department of Plastic and Reconstructive Surgery, Radboud University Medical Center Department of Plastic Surgery, Canisius Wilhelmina Hospital, Nijmegen, The Netherlands.

Objective: The median nerve can become compressed at multiple points in the arm, causing carpal tunnel-, pronator-, anterior interosseous-, or lacertus syndrome. Anatomical variations are potential reasons of persisting or recurrent symptoms of median nerve compression and are often recognized late. The objective of this study is to provide a comprehensive list of rare anatomical variations and malformations causing median nerve compression. Read More

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A case of juvenile temporal arteritis with anterior scleritis.

Eur J Dermatol 2021 Apr 8. Epub 2021 Apr 8.

Department of Dermatology, Asahikawa Medical University, Asahikawa, Japan.

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Decitabine combined with medium-dose cytarabine in the treatment of DEK/CAN-positive acute myeloid leukemia: a case report.

Ann Palliat Med 2021 Apr 1. Epub 2021 Apr 1.

Department of Neurosurgery, The First Affiliated Hospital of Nanchang University, Nanchang, China.

Acute myeloid leukemia (AML) is a malignant clonal hematopoietic stem cell disease. Although there are many therapeutic options, it is still an incurable hematological malignancy. Moreover, the prognosis of AML is closely related to its cytogenetics and molecular biology. Read More

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[Diagnosis and surgical treatment of sinonasal phosphaturic mesenchymal tumor].

Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 2021 Apr;56(4):351-355

Department of Otorhinolaryngology Head and Neck Surgery, Shanghai JiaoTong University Affiliated Sixth People's Hospital, Shanghai 200233, China.

To investigate the diagnosis and surgical treatment of sinonasal phosphaturic mesenchymal tumor (PMT). The medical records of nine patients who had been diagnosed as sinonasal PMT in Department of Otorhinolaryngology Head and Neck Surgery, Shanghai JiaoTong University Affiliated Sixth People's Hospital between January 2015 and May 2020 were collected, including 4 males and 5 females, ranging from 36 to 59 years. The patient's previous history, clinical manifestations, imaging findings, laboratory results, surgical procedure, pathological results and postoperative follow-up data were analyzed by descriptive statistical analysis. Read More

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