19,436 results match your criteria primary defect


Base editing repairs an SGCA mutation in human primary muscle stem cells.

JCI Insight 2021 Apr 13. Epub 2021 Apr 13.

Muscle Research Unit, Charité University Hospital Berlin, Berlin, Germany.

Skeletal muscle can regenerate from muscle stem cells and their myogenic precursor cell progeny, myoblasts. However, precise gene editing in human muscle stem cells for autologous cell replacement therapies of untreatable genetic muscle diseases has not yet been reported. Loss-of-function mutations in SGCA, encoding α-sarcoglycan, cause limb-girdle muscular dystrophy 2D/R3, an early onset, severe and rapidly progressive form of muscular dystrophy affecting equally girls and boys. Read More

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Preconception Thyrotropin Levels and Risk of Adverse Pregnancy Outcomes in Chinese Women Aged 20 to 49 Years.

JAMA Netw Open 2021 Apr 1;4(4):e215723. Epub 2021 Apr 1.

Department of Endocrinology, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, China.

Importance: Maternal thyrotropin levels during gestation have a profound effect on pregnancy outcomes; however, few studies to date have evaluated the importance of preconception thyrotropin levels.

Objective: To investigate the associations between preconception thyrotropin levels and pregnancy outcomes.

Design, Setting, And Participants: This population-based cohort study enrolled Chinese women aged 20 to 49 years from the National Free Prepregnancy Checkups Project in China. Read More

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Long-term Effect of Individualized Titanium Mesh in Orbital Floor Reconstruction After Maxillectomy.

Laryngoscope 2021 Apr 13. Epub 2021 Apr 13.

Department of Oral and Maxillofacial Surgery, Peking University School and Hospital of Stomatology, Beijing, China.

Objective: The aim of this study was to determine the clinical outcomes and long-term stability of individualized titanium mesh combined with free flap for orbital floor reconstruction after maxillectomy and to identify the risk factors for titanium mesh exposure.

Material And Methods: The data of 66 patients who underwent maxillectomy and orbital floor defect reconstruction by individualized titanium mesh in Peking University School and Hospital of Stomatology between 2011 and 2019 were retrospectively reviewed. Postoperative ophthalmic function and success of aesthetic restoration were assessed. Read More

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A rare case of ectopic ACTH syndrome caused by primary renal neuroendocrine tumor.

Endocrinol Diabetes Metab Case Rep 2021 Apr 12;2021. Epub 2021 Apr 12.

Division of Endocrinology and Metabolism, Department of Medicine.

Summary: Ectopic adrenocorticotropic hormone (ACTH) secretion is responsible for 5-15% of Cushing's syndrome (CS). Neuroendocrine tumor (NET) is a common cause of ectopic ACTH syndrome (EAS). However, primary renal NET is exceedingly rare. Read More

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A new method of primary engineering of esophagus using orthotopic in-body tissue architecture.

J Pediatr Surg 2021 Mar 26. Epub 2021 Mar 26.

Biotube Co., Ltd, Osaka, Japan.

Purpose: Tissue engineering of esophagus is required for management of long-gap esophageal atresia (LGEA). Collagenous connective tissue membranes fabricated by in-body tissue architecture (iBTA), called biosheets, can repair esophageal defects and generate tissues similar to native esophagus. However, iBTA requires second-stage surgery because of heterotopic preparation of biosheets. Read More

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Clinical and immunological profile of children with Mendelian Susceptibility to Mycobacterial Diseases (MSMD) from an Indian tertiary care hospital.

Indian J Tuberc 2021 Apr 30;68(2):292-297. Epub 2020 Jul 30.

University of Paris, Imagine Institute, Laboratory of Human Genetics of Infectious Diseases, Institut National de La Santé et de La Recherche Médicale U1163 and Study Center of Immunodeficiencies, Necker Hospital for Sick Children, Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, the Rockefeller University, New York, NY, USA.

Inherited disorders of interferon gamma (IFN) γ, also known as Mendelian Susceptibility to Mycobacterial Diseases (MSMD), have been classified as Primary Immuno Deficiency 6, ie, defect in intrinsic and innate immunity. As IFN-γ plays an important role in conferring immunity to mycobacterial infections, its disorders have been increasingly reported in association with disseminated BCG/Non Tubercular Mycobacterial infections. So far germline mutations in 16 genes have been reported, most common being IL12RB1 followed by IFNGR1 and IFNGR2. Read More

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Clinical and radiographic effects of ascorbic acid-augmented platelet-rich fibrin versus platelet-rich fibrin alone in intra-osseous defects of stage-III periodontitis patients: a randomized controlled clinical trial.

Clin Oral Investig 2021 Apr 12. Epub 2021 Apr 12.

Oral Medicine and Periodontology Department, Faculty of Dentistry, Cairo University, Al Saraya Str. 11, Manial, Cairo, Egypt.

Aim: To assess platelet-rich fibrin (PRF) with ascorbic acid (AA) versus PRF in intra-osseous defects of stage-III periodontitis patients.

Methodology: Twenty stage-III/grade C periodontitis patients, with ≥ 3 mm intra-osseous defects, were randomized into test (open flap debridement (OFD)+AA/PRF; n = 10) and control (OFD+PRF; n = 10). Clinical attachment level (CAL; primary outcome), probing pocket depth (PPD), gingival recession depth (RD), full-mouth bleeding scores (FMBS), full-mouth plaque scores (FMPS), radiographic linear defect depth (RLDD) and radiographic defect bone density (RDBD) (secondary-outcomes) were examined at baseline, 3 and 6 months post-surgically. Read More

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Homologous recombination repair gene mutations show no survival benefits in Chinese high-grade serous ovarian cancer patients.

Ann Transl Med 2021 Mar;9(5):364

Department of Gynecological Oncology, Fudan University Shanghai Cancer Center, Shanghai, China.

Background: The purpose of our study was to identify germline and somatic homologous recombination repair (HRR) pathway gene mutations and their clinical-prognostic impact in Chinese high-grade serous ovarian cancer (HGSC) patients.

Methods: We applied next-generation sequencing (NGS) in consecutive patients who underwent primary surgery for HGSC in November and December 2015 at our institution. Paired peripheral blood (or para-carcinoma tissue) samples and tumor samples from 42 Chinese women were tested to identify both germline and somatic deleterious mutations through all exons in and 22 other core HRR genes. Read More

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: an Emerging Pathogen for Dog Breeds with Hereditary Immunodeficiencies.

Curr Clin Microbiol Rep 2020 Sep 18;7(3):67-80. Epub 2020 Aug 18.

Clinic for Small Animal Internal Medicine, Vetsuisse Faculty, University of Zurich, Winterthurerstrasse 260, 8057 Zürich, Switzerland.

Purpose Of Review: Among the nontuberculous mycobacteria (NTM), complex (MAC) is the leading cause of pulmonary disease in humans. Innate and acquired immunodeficiencies have been associated with an increased host susceptibility to NTM infections. The underlying mechanisms predisposing humans and dogs to MAC infections is being elucidated. Read More

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September 2020

Case Report: A Novel Mutation in the Mitochondrial Gene Is Associated With Leber Hereditary Optic Neuropathy (LHON).

Front Neurol 2021 25;12:652590. Epub 2021 Mar 25.

Department of Clinical Neuroscience, Division of Eye and Vision, St. Erik Eye Hospital, Karolinska Institutet, Solna, Sweden.

Leber hereditary optic neuropathy (LHON) is a mitochondrial disease causing severe bilateral visual loss, typically in young adults. The disorder is commonly caused by one of three primary point mutations in mitochondrial DNA, but a number of other rare mutations causing or associated with the clinical syndrome of LHON have been reported. The mutations in LHON are almost exclusively located in genes encoding subunits of complex I in the mitochondrial respiratory chain. Read More

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Changes in the Transcriptome and Proteome of Cartilage in Microtia.

J Craniofac Surg 2021 Apr 5. Epub 2021 Apr 5.

Department of Auricular Reconstruction, Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

Abstract: Congenital microtia is a severe physiological defect and is among the most common craniofacial defects. It is characterized by severe auricle dysplasia, external auditory canal atresia or stenosis, and middle ear malformation, though inner ear development is mostly normal with some hearing occurring through bone conduction. Auricular reconstruction is the only treatment for congenital microtia. Read More

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Congenital Erythrocytosis.

Eur J Haematol 2021 Apr 11. Epub 2021 Apr 11.

Department of Hematology, Postgraduate Institute of Medical Education & Research, Chandigarh, India.

Erythrocytosis, or increased red cell mass, may be labelled as primary or secondary, depending on whether the molecular defect is intrinsic to the RBCs/their precursors or extrinsic to them, the latter being typically associated with elevated erythropoietin (EPO) levels. Inherited/congenital erythrocytosis (CE) of both primary and secondary types is increasingly recognized as the cause in many patients in whom acquired, especially neoplastic causes have been excluded. During the past two decades, the underlying molecular mechanisms of CE are increasingly getting unraveled. Read More

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What is the reality in epigastric hernia repair?-a trend analysis from the Herniamed Registry.

Hernia 2021 Apr 10. Epub 2021 Apr 10.

Pius Hospital, Department of General and Visceral Surgery, University Hospital of Visceral Surgery, Georgstrasse 12, 26121, Oldenburg, Germany.

Introduction: The proportion of epigastric hernias in the total collective of all operated abdominal wall hernias is 3.6-6.9%. Read More

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[Salvage laryngectomy after primary radio- and radiochemotherapy : A retrospective study. German version].

HNO 2021 Apr 9. Epub 2021 Apr 9.

Hals-Nasen-Ohrenklinik, Kopf- und Hals-Chirurgie, Universitätskliniken Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Waldstraße 1, 91054, Erlangen, Deutschland.

Background: Recurrent and residual laryngeal cancer after organ-preserving radio- or radiochemotherapy is associated with a poor prognosis. Salvage surgery is the most important therapeutic option in these cases.

Objective: The study assessed rates of recurrence and residual tumor as well as survival and complication rates after salvage laryngectomy at the authors' academic cancer center. Read More

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Safety and efficacy of secondary mandibular reconstruction using a free osteo-cutaneous fibula flap after segmental mandibular resection: a retrospective case-control study.

BMC Surg 2021 Apr 9;21(1):189. Epub 2021 Apr 9.

Division of Plastic and Reconstructive Surgery, Faculty of Medicine Shimane University, 89-1 Enya-cho, Izumo, Shimane, 693-8501, Japan.

Background: Free osteocutaneous fibula flap (FFF) is currently considered the best option for segmental mandibular reconstruction; however, there are only a few reports comparing secondary with primary reconstructions using FFF. This study aimed to evaluate the safety and efficacy of secondary mandibular reconstruction using FFF when compared with primary mandibular reconstruction.

Methods: From October 2018 to February 2020, patients who underwent mandibular reconstruction using FFF after segmental mandibulectomy were retrospectively reviewed. Read More

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Plexiform Neurofibroma Without Neurofibromatosis Type 1.

Acta Dermatovenerol Croat 2020 Dec;28(7):245-246

Professor Uwe Wollina, MD, Department of Dermatology and Allergology, Städtisches Klinikum Dresden, Academic Teaching Hospital, Friedrichtstrasse 41, 01067 Dresden, Germany;

Dear Editor, Plexiform neurofibroma (PNF) is a particular subtype of benign nerve sheath tumors with a reticular growth pattern not respecting tissue borders and involving several nerve branches or fascicles. It is most commonly reported in patients with neurofibromatosis type-1 (NF-1) and represents in up to 30% of NF-1 patients (1,2). Other possible associations include schwannomatosis, multiple cutaneous schwannomas syndrome, and rarely neurofibromatosis type-2 (NF-2) (3). Read More

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December 2020

The Triangular Dart Flap: A Reconstructive Option for Soft Tissue Defects.

Ann Plast Surg 2021 Apr 5. Epub 2021 Apr 5.

From the Department of Plastic and Reconstructive Surgery, Wake Forest School of Medicine; Winston-Salem, NC.

Introduction: Reconstruction of soft tissue defects after skin cancer excision remains a challenge. Options for reconstruction are numerous, including primary repair, local tissue rearrangement, and skin grafts, among others. In this series, the authors present a novel technique: The triangular dart flap. Read More

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[Free anterolateral thigh flap with superficial temporal vessels as recipient vessels for reconstruction of defect after maxillectomy in malignant tumor].

Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 2021 Apr;56(4):369-373

Department of Oral and Maxillofacial Surgery, the Second Xiangya Hospital of Central South University, , Changsha 410011, China.

To study the effects of superficial temporal artery and vein as recipient vessels for the free anterolateral thigh flap on the appearance and functions after maxillectomy. Clinical data of 21 patients with malignant maxillary tumors in Department of Oral and Maxillofacial Surgery, the Second Xiangya Hospital of Central South University from January 2014 to November 2019, who were treated by free anterolateral thigh flap with temporal superficial vessels as the recipient vessels were analyzed retrospectively. There were 18 males and 3 females, with the age ranging from 29 to 73 years old, including 19 cases of squamous carcinoma, 1 case of adenoid cystic carcinoma and 1 case of osteosarcoma. Read More

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The application of chimeric deep circumflex iliac artery perforator flap for oromandibular reconstruction: A case report.

Medicine (Baltimore) 2021 Apr;100(14):e25458

Department of Head and Neck Cancer Center.

Rationale: The free fibular flap is considered the gold standard, particularly for a mandibular defect combined with a significant soft tissue defect. However, the fibular flap has the disadvantages of a lack of height for postoperative dental restoration and donor site skin graft if the skin paddle is wider than 5 cm. The larger bone and soft tissue defects tend to be reconstructed using either a scapula or a combination of iliac artery and radial free flap. Read More

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Structural Heart Issues in Dextrocardia: Situs Type Matters.

Ochsner J 2021 ;21(1):111-114

Department of Anesthesiology, Louisiana State University Health-Shreveport, Shreveport, LA.

Patients who are diagnosed with dextrocardia, a rare congenital heart condition in which the heart points toward the right side of the chest, need their specific situs classification (eg, solitus, inversus, ambiguus) ascertained to optimize their care and outcomes. In this report, we discuss the perioperative anesthetic management of a patient presenting with dextrocardia. A 44-year-old African American female with a history of hypertension, hyperlipidemia, gastroesophageal reflux disease, and diabetes mellitus type 2 was admitted for shortness of breath, dyspnea on exertion, orthopnea, and paroxysmal nocturnal dyspnea. Read More

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January 2021

Secundum atrial septal defects transcatheter closure versus surgery in adulthood: a 2000-2020 systematic review and meta-analysis of intrahospital outcomes.

Cardiol Young 2021 Apr 8:1-6. Epub 2021 Apr 8.

Center of Vascular Excellence, West Virginia University Medical School, Charlstone, WV, USA.

Introduction: Technologically, advances in both transcatheter and surgical techniques have been continuing in the past 20 years, but an updated comprehensive comparison in device-based versus surgery in adults in terms of incidence of in-hospital mortality, perioperative stroke, and atrial fibrillation onset is still lacking. We investigate the performance of transcatheter device-based closure compared to surgical techniques by a systematic review and meta-analysis of the last 20 years literature data.

Material And Methods: The analysis was conducted following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) statement. Read More

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Thirteen dogs and a cat with ultrasonographically detected gallbladder wall edema associated with cardiac disease.

J Vet Intern Med 2021 Apr 7. Epub 2021 Apr 7.

Oncura Partners Diagnostics, Fort Worth, Texas, USA.

Background: Ultrasonographically detected gallbladder wall edema (GBWE) is a marker for anaphylaxis in dogs. Cardiac disease can cause GBWE with similar signs and should be included as a differential diagnosis to prevent interpretation errors.

Hypothesis/objectives: Document GBWE associated with cardiac disease. Read More

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e-TEP repair for midline primary and incisional hernia: technical considerations and initial experience.

Hernia 2021 Apr 7. Epub 2021 Apr 7.

Calcutta Medical Research Institute, Kolkata, India.

Introduction: The Enhanced-View Totally Extra Peritoneal Rives-Stoppa (e-TEP-RS) Technique for the repair of large, complex, ventral abdominal hernias has gained popularity especially in overcoming the disadvantages with Intra Peritoneal Onlay Mesh (IPOM) repairs and to enable siting of a large prosthetic mesh in an anatomical plane distinct from the abdominal cavity and its contents. Evolving variations of the original technique have allowed the definitive repair of such defects in a reproducible manner. We present our initial experience of this approach and detailed steps of our native technical modifications in overcoming the challenges in performing this complex and potentially challenging procedure. Read More

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Flank incisional hernia after lateral approach spine operations: presentation and outcomes after repair.

Surg Endosc 2021 Apr 6. Epub 2021 Apr 6.

Beverly Hills Hernia Center, 450 N Roxbury Dr. #224, Beverly Hills, CA, 90210, USA.

Background: The flank approach to lumbar spine surgery is considered a new minimally invasive alternative to the anterior abdominal approach. Flank incisional hernia is one complication, but it has been poorly studied.

Methods: Retrospective review of patients referred for evaluation of abdominal bulging after Lateral Interbody Fusion (LIF), 2013-2020. Read More

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Discovery of CFTR modulators for the treatment of cystic fibrosis.

Expert Opin Drug Discov 2021 Apr 13:1-17. Epub 2021 Apr 13.

Department of Physiology, McGill University, Montréal, Canada.

Introduction: Cystic fibrosis (CF) is a life-threatening inherited disease caused by mutations in the gene encoding the CF transmembrane conductance regulator (CFTR) protein, an anion channel expressed at the apical membrane of secretory epithelia. CF leads to multiorgan dysfunction with progressive deterioration of lung function being the major cause of untimely death. Conventional CF therapies target only symptoms and consequences downstream of the primary genetic defect and the current life expectancy and quality of life of these individuals are still very limited. Read More

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Microstructure Maps of Complex Perovskite Materials from Extensive Monte Carlo Sampling Using Machine Learning Enabled Energy Model.

J Phys Chem Lett 2021 Apr 6:3591-3599. Epub 2021 Apr 6.

Research Center for Applied Sciences, Academia Sinica, Taipei, Taiwan.

Revealing the process-structure-property (PSP) relationships of chemically complex mixed-ion perovskite requires comprehensive insights into correlations between microstructures and chemical compositions. However, experimentally determining the microstructural information about complex perovskites over the composition space is a challenging task. In this study, a machine learning enabled energy model was trained for MAFAPb(BrI) mixed-ion perovskite for fast and extensive sampling over the compositional/permutational spaces to map the ion-mixing energies, chemical ordering, and atomic strains. Read More

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Autologous free iliac crest bone grafting of glenoid through the rotator interval using double-barrelled cannula.

Eur J Orthop Surg Traumatol 2021 Apr 5. Epub 2021 Apr 5.

Department of Orthopaedic and Traumatology, Dokuz Eylül University, Balçova, İzmir, Turkey.

Purpose: The primary aim of this study is to prove that reconstructing the anterior glenoid defect with iliac crest graft arthroscopically using double-barrelled cannula through the rotator interval is safe and prevents both recurrence of instability and the neurovascular injury because subscapularis muscle is not split and procedure is far away from important structures.

Methods: Thirteen patients with anterior shoulder instability and engaging Hill-Sachs lesion were reviewed after arthroscopic reconstruction of the anterior glenoid with iliac crest autogenous graft. Patient satisfaction and Western Ontario İnstability Score (WOSI) were evaluated on clinical examination. Read More

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Association of Inadvertent 9-Valent Human Papillomavirus Vaccine in Pregnancy With Spontaneous Abortion and Adverse Birth Outcomes.

JAMA Netw Open 2021 Apr 1;4(4):e214340. Epub 2021 Apr 1.

Department of Obstetrics, Gynecology, and Reproductive Sciences, Yale University School of Medicine, New Haven, Connecticut.

Importance: The 9-valent human papillomavirus (9vHPV) vaccine is recommended for individuals through age 26 years and may be administered to women up to age 45 years. Data on 9vHPV vaccine exposures during pregnancy are limited.

Objective: To evaluate the associations between 9vHPV vaccine exposures during pregnancy or peripregnancy and selected pregnancy and birth outcomes (spontaneous abortion [SAB], preterm birth, small-for-gestational age [SGA] birth, and major structural birth defect). Read More

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Knee Joint Bone Defects: Reconstruction With Bone Transport and Arthrodesis.

J Arthroplasty 2021 Mar 9. Epub 2021 Mar 9.

Limb Lengthening and Complex Reconstruction Service, Hospital for Special Surgery, New York.

Background: The increasing in primary total knee arthroplasty has led to an increase in infectious complications, revision surgery, and bone loss. Knee joint bone defects (KJBD) may be managed using bone transport and arthrodesis with Ilizarov or bone transport over nail (BTON) techniques. The aim of this study is to compare both techniques in the reconstruction of KJBDs. Read More

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Autologous Matrix Induced Chondrogenesis (AMIC) Compared to Microfractures for Chondral Defects of the Talar Shoulder: A Five-Year Follow-Up Prospective Cohort Study.

Life (Basel) 2021 Mar 16;11(3). Epub 2021 Mar 16.

Department of Orthopedics and Trauma Surgery, University Clinic Aachen, RWTH Aachen University Clinic, 52064 Aachen, Germany.

Introduction: Many procedures are available to manage cartilage defects of the talus, including microfracturing (MFx) and Autologous Matrix Induced Chondrogenesis (AMIC). Whether AMIC or MFx are equivalent for borderline sized defects of the talar shoulder is unclear. Thus, the present study compared the efficacy of primary isolated AMIC versus MFx for borderline sized focal unipolar chondral defects of the talar shoulder at midterm follow-up. Read More

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