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Effectiveness of Human being Recombinant Epidermis Expansion Components vs Typical Treatment for the treatment Persistent Venous Ulcers: The Retrospective Circumstance Sequence.
It underlines the value of targeted enrichment of well-selected deafness genes in combination with MPS in the diagnostics of this frequent and genetically heterogeneous disorder. © 2020 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.X-linked intellectual disability (XLID) is a genetically heterogeneous condition involving more than 100 genes. To date, 35 pathogenic variants have been reported in the lysine specific demethylase 5C (KDM5C) gene. KDM5C variants are one of the major causes of moderate to severe XLID. Affected males present with short stature, distinctive facial features, behavioral disorders, epilepsy, and spasticity. For most of these variants, related female carriers have been reported, but phenotypic descriptions were poor. Here, we present clinical and molecular features of 19 females carrying 10 novel heterozygous variants affecting KDM5C function, including 5 probands with de novo variants. Four heterozygous females were asymptomatic. All affected individuals presented with learning disabilities or ID (mostly moderate), and 4 also had a language impairment mainly affecting expression. Behavioral disturbances were frequent, and endocrine disorders were more frequent in females. In conclusion, our findings provide evidence of the role of KDM5C in ID in females highlighting the increasing implication of XLID genes in females, even in sporadic affected individuals. Disease expression of XLID in females should be taken into consideration for genetic counseling. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.BACKGROUND  Surgical thoracoabdominal aortic aneurysm (TAAA) repair remains challenging. Apart from mortality, spinal cord injury (SCI) is a dreaded complication. We analyzed our experience to identify predictors for SCI in a nonhigh-volume institution. PATIENTS AND METHODS  All patients who underwent TAAA repair between February 1996 and November 2016 (n = 182) were enrolled. Most were male (n = 121; 66.4%), median age was 68 years (range 21-84). Elective operations were performed in 153 instances (84.1%). Our approach to minimize SCI includes distal aortic perfusion, mild hypothermia, identification of the Adamkiewicz artery, and sequential aortic clamping. Cerebrospinal fluid drainage was introduced in 2001 and liberal use of selective visceral perfusion in 2006. RESULTS  Early mortality was 12.1%; it was 8.5% after elective procedures. Reduced left ventricular function, nonelective setting, older age, and longer bypass time were identified as independent predictors for mortality in multivariable logistic regression model. Permanent SCI was observed in nine patients (4.9%), of whom seven (3.8%) developed paraplegia. In a multivariable logistic regression model for paraplegia, peripheral arterial disease (PAD), Crawford type II repair, smaller body surface area, and era before 2001 were identified as independent predictors, whereas only PAD was significant for SCI. The incidence of paraplegia was 13.8% in extensive repair out of the first 91 cases, whereas it was improved up to 2.7% thereafter. CONCLUSION  Using an integrated approach, acceptable outcome of TAAA repair can be achieved, even in a nonhigh-volume center. PAD and extensive involvement of the aorta are strong independent predictors for spinal cord deficit after TAAA repair. Georg Thieme Verlag KG Stuttgart · New York.Bronchioles are noncartilaginous small airways with internal diameter of 2 mm or less, located from approximately the eighth generation of purely air conducting airways (membranous bronchioles) down to the terminal bronchioles (the smallest airways without alveoli) and respiratory bronchioles (which communicate directly with alveolar ducts and are in the range of 0.5 mm or less in diameter). MEK inhibitor Bronchiolar injury, inflammation, and fibrosis may occur in myriad disorders including connective tissue diseases, inflammatory bowel diseases, lung transplant allograft rejection, graft versus host disease in allogeneic stem cell recipients, neuroendocrine cell hyperplasia, infections, drug toxicity (e.g., penicillamine, busulfan), inhalation injury (e.g., cigarette smoke, nylon flock, mineral dusts, hard metals, Sauropus androgynous); idiopathic, common variable immunodeficiency disorder, and a host of other disorders or insults. The spectrum of bronchiolar disorders is wide, ranging from asymptomatic to fatal obliterative bronchiolitis. In this review, we discuss the salient clinical, radiographic, and histological features of these diverse bronchiolar disorders, and discuss a management approach. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.Amyloidosis is the term given to abnormal deposition of misfolded precursor proteins at single or multiple sites, leading to organ dysfunction or clinical signs and symptoms. Pulmonary manifestations are nonspecific and may be associated with several amyloid protein subtypes, commonly AL (light chain) and AA (autoimmune) amyloids. Signs or symptoms of amyloid disease may often involve more of the clinical abnormalities of other affected organs than the lungs themselves. Radiologic pulmonary findings include septal and parenchymal ground glass or nodular infiltrates, multiple nodules, cysts, and focal tracheobronchial abnormalities. Lymphadenopathy with or without calcification and pleural effusions has also been reported. Directed therapy is initiated in response to clinical signs or symptoms often as a result of systemic or secondary diseases or conditions. Long-term prognosis is more dependent on the extent of organ involvement where morbidity is often the highest in those with multisystemic disease. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.Pulmonary alveolar proteinosis (PAP) is a syndrome characterized by progressive accumulation of pulmonary surfactant. This results in dyspnea, secondary pulmonary and systemic infection, and in some cases respiratory failure. PAP syndrome occurs in distinct diseases, classified according to pathogenetic mechanism; these include primary PAP (due to disruption of granulocyte-macrophage colony-stimulating factor [GM-CSF] signaling), secondary PAP (due to reduction in alveolar macrophage numbers/functions), and congenital PAP (due to disruption of surfactant production). In primary PAP, the most common cause is autoimmune PAP, which accounts for over 90% of all PAP syndrome. The pathogenesis is driven by reduced GM-CSF-signaling causing abnormal alveolar macrophage function which subsequently results in impaired alveolar surfactant clearance. Autoimmune PAP can be accurately diagnosed by serum GM-CSF autoantibody levels and there now exist other diagnostic tests for rare causes of PAP syndrome. The current standard treatment is whole lung lavage; however, there is emerging evidence to support the use of novel therapeutic approaches, including inhaled GM-CSF, immune modulation, gene and cell therapy, and targeting macrophage cholesterol homeostasis.
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