13,028 results match your criteria minor deformities

Investigational Treatments for Epidermolysis Bullosa.

Am J Clin Dermatol 2021 Jul 22. Epub 2021 Jul 22.

Department of Dermatology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, 138 Sheng-Li Road, Tainan, Taiwan.

Epidermolysis bullosa (EB) is a heterogeneous group of rare inherited blistering skin disorders characterized by skin fragility following minor trauma, usually present since birth. EB can be categorized into four classical subtypes, EB simplex, junctional EB, dystrophic EB and Kindler EB, distinguished on clinical features, plane of blister formation in the skin, and molecular pathology. Treatment for EB is mostly supportive, focusing on wound care and patient symptoms such as itch or pain. Read More

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Arthroscopic removal of osteochondral fragments of the cervical articular process joints in three horses.

Vet Surg 2021 Jul 20. Epub 2021 Jul 20.

Equine Clinic, Surgery and Radiology, Freie Universität Berlin, Berlin, Germany.

Objective: To report arthroscopic osteochondral fragment removal from the equine cervical spine articular process joints (APJs) including long-term follow-up.

Study Design: Case series.

Animals: Three Warmblood horses with forelimb lameness and/or reduced range of motion of the cervical spine with osteochondral fragments between the cervical vertebrae C /C or C /C . Read More

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Ceramides in Skin Health and Disease: An Update.

Am J Clin Dermatol 2021 Jul 20. Epub 2021 Jul 20.

Department of Food Science and Nutrition, Convergence Program of Material Science for Medicine and Pharmaceutics, Hallym University, Chuncheon, 24252, Korea.

Ceramides are a class of sphingolipid that is the backbone structure for all sphingolipids, such as glycosphingolipids and phosphosphingolipids. While being a minor constituent of cellular membranes, ceramides are the major lipid component (along with cholesterol, free fatty acid, and other minor components) of the intercellular spaces of stratum corneum that forms the epidermal permeability barrier. These stratum corneum ceramides consist of unique heterogenous molecular species that have only been identified in terrestrial mammals. Read More

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Progressive cerebral atrophies in three children with COL4A1 mutations.

Brain Dev 2021 Jul 16. Epub 2021 Jul 16.

Division of Child Neurology, Institute of Neurological Sciences, School of Medicine, Tottori University, Yonago, Japan.

Background: The collagen type IV alpha 1 chain (COL4A1) gene on 13q34 encodes one chain of collagen. COL4A1 mutations have been identified as the cause of a group of multisystemic conditions in humans, including the brain, eyes, kidneys, muscles, and other organs at any age. Brain imaging shows a wide spectrum of abnormalities, including porencephaly, schizencephaly, polymicrogyria focal cortical dysplasia, periventricular leukoencephalopathy, ventricular dysmorphisms, and multiple brain calcifications. Read More

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J Rehabil Med Clin Commun 2021 21;4:1000060. Epub 2021 May 21.

Livit Orthopedie, Kabelweg 40, 1014 BB, Amsterdam, The Netherlands.

Pain, stiffness and joint deformity can result in significantly reduced hand function in people with osteoarthritis. Characteristic finger deformities in osteoarthritis are swan neck deformity and boutonnière deformity. Several studies have reported that an orthosis decreases pain and increases function during daily activities for patients with arthritis. Read More

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Percutaneous, MIS and open hallux valgus surgery.

Hans-Jörg Trnka

EFORT Open Rev 2021 Jun 28;6(6):432-438. Epub 2021 Jun 28.

Foot and Ankle Centre Vienna, Vienna, Austria.

There is some confusion in the terminology used when referring to MIS (Minimal invasive surgery) or percutaneous surgery. The correct term to describe these procedures should be percutaneous (made through the skin) and MIS should be reserved for procedures whose extent is between percutaneous and open surgery (e.g. Read More

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Somatic-Type Yolk Sac Tumor Arising as a Predominant Component of Bladder Urothelial Carcinoma.

Int J Surg Pathol 2021 Jul 13:10668969211030688. Epub 2021 Jul 13.

12250Department of Pathology, Indiana University School of Medicine, Indianapolis, IN, USA.

Germ cell differentiation has been described in association with somatic tumors arising from several organ systems; rare cases arising from urothelium have been reported. Here we present a 62-year-old male with a remote history of lung cancer, a left adrenal gland mass, and a 5.6 cm left bladder wall mass; cystoscopy demonstrated a large papillary mass on the left anterior bladder wall. Read More

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Genetics and epidemiology of aniridia: Updated guidelines for genetic study.

Arch Soc Esp Oftalmol 2021 Jul 6. Epub 2021 Jul 6.

Departamento de Genética, Hospital Universitario Fundación Jiménez Díaz, Madrid, España; Área de Genética & Genómica, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz - Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, España; Centro de Investigación en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, España. Electronic address:

Aniridia is a panocular disease characterized by iris hypoplasia, accompanied by other ocular manifestations, with a high clinical variability and overlapping with different abnormalities of the anterior and posterior segment. This review focuses on the genetic features of this autosomal dominant pathology, which is caused by the haploinsufficiency of the PAX6 gene. Mutations causing premature stop codons are the most frequent among the wider mutational spectrum of PAX6, with more than 600 different mutations identified so far. Read More

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GABA-receptive microglia selectively sculpt developing inhibitory circuits.

Cell 2021 Jul 6;184(15):4048-4063.e32. Epub 2021 Jul 6.

Department of Neurobiology, Blavatnik Institute, Harvard Medical School, Boston, MA 02115, USA; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA. Electronic address:

Microglia, the resident immune cells of the brain, have emerged as crucial regulators of synaptic refinement and brain wiring. However, whether the remodeling of distinct synapse types during development is mediated by specialized microglia is unknown. Here, we show that GABA-receptive microglia selectively interact with inhibitory cortical synapses during a critical window of mouse postnatal development. Read More

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Over one third of patients with symptomatic femoroacetabular impingement display femoral or acetabular version abnormalities.

Knee Surg Sports Traumatol Arthrosc 2021 Jul 6. Epub 2021 Jul 6.

Young Adult Hip Service, Addenbrooke's, Cambridge University Hospital, Box 37, Hills Road, Cambridge, CB2 0QQ, UK.

Purpose: The aim of this study was investigate the relationship between version and torsional abnormalities of the acetabulum, femur and tibia in patients with symptomatic FAI.

Methods: A systematic review was performed according to PRISMA guidelines using the EMBASE, MEDLINE, PubMed and Cochrane databases. Original research articles evaluating the described version and torsional parameters in FAI were included. Read More

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Comparison of Nutritional Status of Children with Congenital Heart Diseases with Minor Illness of Other Children in a Tertiary Level Hospital.

Mymensingh Med J 2021 Jul;30(3):594-600

Dr Kishwar Zaman, Registrar, Department of Pediatrics, Mymensingh Medical College Hospital (MMCH), Mymensingh, Bangladesh; E-mail:

This cross sectional comparative analytical study was undertaken with the objectives to find out the nutritional status of children with congenital heart disease by anthropometric measurement and was compared it with those of children having minor illness and without any congenital heart disease in indoor and outdoor Department of Paediatrics of Mymensingh Medical College Hospital (MMCH), Mymensingh, Bangladesh from December 2015 to November 2016. Purposive sampling was done. One hundred children aged 6 to 60 months with congenital heart disease confirmed by echocardiogram were taken as Group A and one hundred children of same age and sex matched having minor illness and without any congenital heart disease were taken as Group B. Read More

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Chemoarchitecture of the bed nucleus of the stria terminalis: Neurophenotypic diversity and function.

Handb Clin Neurol 2021 ;179:385-402

Department of Neurological Sciences, University of Vermont Larner College of Medicine, Burlington, VT, United States. Electronic address:

The bed nucleus of the stria terminalis (BNST) is a compact but neurophenotypically complex structure in the ventral forebrain that is structurally and functionally linked to other limbic structures, including the amygdala nuclear complex, hypothalamic nuclei, hippocampus, and related midbrain structures, to participate in a wide range of functions, especially emotion, emotional learning, stress-related responses, and sexual behaviors. From a variety of sensory inputs, the BNST acts as a node for signal integration and coordination for information relay to downstream central neuroendocrine and autonomic centers for appropriate homeostatic physiological and behavioral responses. In contrast to the role of the amygdala in fear, the BNST has gained wide interest from work suggesting that it has main roles in mediating sustained responses to diffuse, unpredictable and/or long-duration threats that are typically associated with anxiety-related responses. Read More

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January 2021

Neuropsychological deficits have only limited impact on psychological well-being in amyotrophic lateral sclerosis.

J Neurol 2021 Jul 2. Epub 2021 Jul 2.

Department of Neurology, University of Ulm, Oberer Eselsberg 45, 89081, Ulm, Germany.

Objective: To investigate the association between neuropsychological deficits and psychological well-being in amyotrophic lateral sclerosis (ALS).

Methods: Subjective (Schedule for the Evaluation of the Individual Quality of Life-Direct Weighting, SEIQoL-DW) and global quality of life (QoL; Anamnestic Comparative Self-Assessment, ACSA) as well as depression (ALS-Depression-Inventory, ADI-12) as indicators for psychological well-being were measured in 214 patients with ALS and correlated with neurocognitive performance assessed by the Edinburgh Cognitive and Behavioural ALS Screen (ECAS). Primary caregivers evaluated behaviour. Read More

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Treatment of lumbar and intrathoracic meningocele: bioethical implications.

Acta Biomed 2021 07 1;92(3):e2021211. Epub 2021 Jul 1.

Department of Clinical and Experimental Medicine, University of Catania, Italy.

Myelomeningocele is  a  congenital malformation caused by a developmental defect of the spinal cord structures. The exactcause is unknown, but different factors have been involved includingradiation, malnutrition, drugs. Myelomeningocele can develop at any point in the spine, but the lumbosacral region is affected in over 75% of cases. Read More

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Subpectoral Implant Repositioning With Partial Capsule Preservation: Treating the Long-Term Complications of Subglandular Breast Augmentation.

Aesthet Surg J Open Forum 2021 Jun 2;3(2):ojab009. Epub 2021 Mar 2.

Division of Plastic and Reconstructive Surgery, Louisiana State University, New Orleans, LA, USA.

Background: Patients with long-term complications associated with subglandular breast augmentation are being seen in increasing numbers in the Southern California community. Late deformities include a characteristic "slide-down" deformity as well as capsular contracture, implant wrinkling, and nipple-areola complex enlargement. Repositioning the implant to a subpectoral pocket is a recognized revisionary technique to treat this problem; however, technical details of how this is accomplished are lacking in the literature. Read More

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The genetic association of the transcription factor NPAT with glycemic response to metformin involves regulation of fuel selection.

PLoS One 2021 1;16(7):e0253533. Epub 2021 Jul 1.

Division of Cellular Medicine, School of Medicine, University of Dundee, Ninewells Hospital and Medical School, James Arnott Drive, Dundee, United Kingdom.

The biguanide, metformin, is the first-choice therapeutic agent for type-2 diabetes, although the mechanisms that underpin metformin clinical efficacy remain the subject of much debate, partly due to the considerable variation in patient response to metformin. Identification of poor responders by genotype could avoid unnecessary treatment and provide clues to the underlying mechanism of action. GWAS identified SNPs associated with metformin treatment success at a locus containing the NPAT (nuclear protein, ataxia-telangiectasia locus) and ATM (ataxia-telangiectasia mutated) genes. Read More

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Whole brain atlas-based diffusion kurtosis imaging parameters for evaluation of minimal hepatic encephalopathy.

Neuroradiol J 2021 Jun 29:19714009211026924. Epub 2021 Jun 29.

Department of Radiology, University of Miami, USA.

Background And Purposes: Minimal hepatic encephalopathy (MHE) has no recognizable clinical symptoms, but patients have cognitive and psychomotor deficits. Hyperammonemia along with neuroinflammation lead to microstructural changes in cerebral parenchyma. Changes at conventional imaging are detected usually at the overt clinical stage, but microstructural alterations by advanced magnetic resonance imaging techniques can be detected at an early stage. Read More

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Thrombin generation abnormalities in commonly encountered platelet function disorders.

Int J Lab Hematol 2021 Jun 29. Epub 2021 Jun 29.

Department of Pathology and Molecular Medicine, McMaster University, Hamilton, ON, Canada.

Introduction: Studies of thrombin generation (TG) with platelet-rich plasma (PRP) and platelet-poor plasma (PPP) have provided insights on bleeding disorders. We studied TG for a cohort with commonly encountered platelet function disorders (PFD).

Methods: Participants included 40 controls and 31 with PFD due to: nonsyndromic dense granule (DG) deficiency (PFD-DGD, n = 9), RUNX1 haploinsufficiency (n = 6) and aggregation defects from other, uncharacterized causes (n = 16). Read More

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Sonographic and genetic findings in a case of asymptomatic spontaneous uterine rupture.

Ultrasound Obstet Gynecol 2021 Jun 28. Epub 2021 Jun 28.

Department of Obstetrics and Gynecology, Division of Maternal Fetal Medicine, University of North Carolina-Chapel Hill, Chapel Hill, NC.

An asymptomatic 25-year-old G4P0120 with history significant for cervical insufficiency and classical cesarean delivery 12.5 months prior to conception underwent routine transabdominal ultrasound at 36w4d; umbilical cord was found to be protruding into a fluid-filled pouch extruding from the lower uterine segment. During emergent cesarean delivery, a full-thickness uterine rupture was confirmed; the fetal cranium and umbilical cord were extrauterine. Read More

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Juvenile Paget's Disease: Report of a successful treatment throughout the complete growth of a patient with a missense TNFRSF11B mutation.

Joint Bone Spine 2021 Jun 21;88(6):105243. Epub 2021 Jun 21.

Pediatric Rheumatology Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Avenida Afonso Romão, 3000-602 Coimbra, Portugal.

Introduction: Juvenile Paget's Disease (JPD) is an ultra-rare inherited osteopathy featuring markedly accelerated bone turnover. Several clinical characteristics have been reported, including bone deformities developing in childhood and hearing loss.

Case Report: We report the case of a 2 ¾-year-old girl that presented with progressive bowing of both legs since the age of 2, lower limb pain and frequent falls with one consequent femur fracture. Read More

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Prenatal diagnosis of the persistent right umbilical vein, incidence and clinical significance.

J Obstet Gynaecol 2021 Jun 24:1-4. Epub 2021 Jun 24.

Department of Perinatology, Etlik Zubeyde Hanim Women's Health Care, Training and Research Hospital, University of Health Sciences, Ankara, Turkey.

Prenatal diagnosis of persistent right umbilical vein (PRUV) is important due to accompanying malformations. Pregnant women diagnosed with PRUV were analysed retrospectively. Intrahepatic PRUV was seen in 12 of 10. Read More

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Altered Functional Connectivity and Cognition Persists 4 Years After a Transient Ischemic Attack or Minor Stroke.

Front Neurol 2021 7;12:612177. Epub 2021 Jun 7.

Functional Neuroimaging Laboratory, School of Psychology, University of Newcastle, Callaghan, NSW, Australia.

Altered executive functions and resting-state functional connectivity (rsFC) are common following a minor stroke or transient ischemic attack (TIA). However, the long-term persistence of these abnormalities is not well-studied. We investigated whether there were cognitive and rsFC differences between (a) controls and minor cerebrovascular event (CVE) patients and (b) between CVE patients with and without an imaging confirmed infarct (i. Read More

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Initial radiological signs of dentofacial deformity in juvenile idiopathic arthritis.

Sci Rep 2021 Jun 23;11(1):13142. Epub 2021 Jun 23.

Section of Orthodontics, Institute for Oral Health, Aarhus University, Vennelyst Boulevard, 9-11, Aarhus, Denmark.

Juvenile idiopathic arthritis (JIA) is the most common rheumatic disease in childhood and the temporomandibular joint (TMJ) is often involved. TMJ arthritis in growing individuals can cause deformation of facial skeleton (dentofacial deformity) and TMJ components (TMJ deformity). Treatment outcome hinges on early initiation of anti-inflammatory treatment and orthopaedic treatment with dental splints. Read More

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Efficacy of Percutaneous Retrograde Transphyseal Guided Growth Screw in Distal Femoral Angular Deformity Correction: A New Technique.

J Pediatr Orthop 2021 Jun 22. Epub 2021 Jun 22.

Pediatric Orthopedics and Deformity Divisions Department of Orthopaedics, Al-Razi Hospital Orthopedics, Al-Razi Orthopedic Hospital, Kuwait City, Kuwait.

Background: We modified the original technique for percutaneous transphyseal screw which was described in 1998 by Metaizeau and colleagues for distal femoral coronal angular deformity correction; the modification is related to the screw direction, whereas the screw is administered in a retrograde pattern, starting from the epiphysis and directed toward the metaphysis. This technique opposes the original technique that was started with a metaphyseal entry point which aimed toward the epiphysis. This study evaluates the efficacy of the newly suggested surgical technique regarding the rate of correction and growth resumption after screw removal. Read More

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Mistranslation Drives Alterations in Protein Levels and the Effects of a Synonymous Variant at the Fibroblast Growth Factor 21 Locus.

Adv Sci (Weinh) 2021 06 1;8(11):2004168. Epub 2021 May 1.

Storr Liver Centre Westmead Institute for Medical Research Westmead Hospital and University of Sydney Westmead NSW 2145 Australia.

Fibroblast growth factor 21 (FGF21) is a liver-derived hormone with pleiotropic beneficial effects on metabolism. Paradoxically, FGF21 levels are elevated in metabolic diseases. Interventions that restore metabolic homeostasis reduce FGF21. Read More

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Incidence of electrocardiographic alterations in the preoperative period of non-cardiac surgery.

Rev Esp Anestesiol Reanim (Engl Ed) 2021 May 11;68(5):252-257. Epub 2021 May 11.

Servicio de Cardiología, Unidad Coronaria, Servicio de Cardiología, Hospital Universitario La Princesa, Madrid, Spain.

Background: The electrocardiogram is the most widely used test to assess cardiovascular risk during the preoperative period. The objective of the present study is to evaluate the incidence of electrocardiographic alterations in the general population scheduled for non-cardiac surgery and to determine if the age greater than or equal to 65 years or the revised cardiac risk index ≥1 represent a risk factor for presenting these alterations.

Material And Methods: Over a period of one month, all preoperative electrocardiograms (ECG) from the anesthesia clinic were analyzed. Read More

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A New Concept of Narrowing Genioplasty: Home Plate-Shaped Sliding Osteotomy.

Plast Reconstr Surg 2021 Jun 15. Epub 2021 Jun 15.

From the Ritz Cosmetic Surgery Clinic.

Background: Narrowing genioplasty is commonly performed among East Asian populations, as a broad and/or square chin can be aesthetically unappealing. This study was aimed to introduce the home plate-shaped sliding osteotomy technique for narrowing genioplasty and to evaluate the results of this technique.

Methods: A retrospective chart review of 117 patients who underwent home plate-shaped sliding osteotomy alone between 2011 and 2019 was performed. Read More

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Perioperative findings and complications in Essure® removal surgery.

Eur J Obstet Gynecol Reprod Biol 2021 May 25;263:1-6. Epub 2021 May 25.

Department of Obstetrics and Gynecology, Maastricht University Medical Centre+, P. Debyelaan 25, 6229 HX, Maastricht, the Netherlands. Electronic address:

Objective: To analyze perioperative findings and complications in surgical removal of Essure® microinserts.

Study Design: A prospective cohort study of 274 patients who underwent surgical removal of Essure® microinserts. Outcomes of the surgical procedures and complications were entered into a digital case report form (CRF) by the surgeon and registered in an online database. Read More

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Diagnostic accuracy of an interdisciplinary tertiary center evaluation in children referred for suspected congenital anomalies of the kidney and urinary tract on fetal ultrasound - a retrospective outcome analysis.

Pediatr Nephrol 2021 Jun 14. Epub 2021 Jun 14.

Department of Pediatric Nephrology, University Children's Hospital Basel, Basel, Switzerland.

Background: Fetal ultrasound organ screening has become a standard of care in most high-income countries. This has resulted in increased detection of congenital abnormalities, which may lead to major uncertainty and anxiety in expectant parents, even though many of them are of minor relevance. In order to optimize prenatal counselling, we introduced an interdisciplinary approach for all pregnant women referred to our center by private obstetricians for a co-assessment of suspected relevant fetal abnormalities of the kidney or urinary tract, involving both experienced prenatal ultrasound specialists and a pediatric nephrologist or urologist. Read More

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A double-closed wedge broken-line osteotomy for cubitus varus deformity.

Medicine (Baltimore) 2021 Jun;100(23):e26124

Department of Orthopedic Ward II, Shenzhen Children's Hospital, Shenzhen, China.

Abstract: Various osteotomy methods have been proposed in the treatment of cubitus varus. We designed an improved stepped osteotomy to achieve improved deformity correction. We refer to this new approach as double-closed wedge broken-line osteotomy and report a series of clinical and imaging results (deformity correction, range of motion [ROM], function, osteotomy healing, and complications) of patients with cubitus varus treated with this technique. Read More

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