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https://www.readbyqxmd.com/read/29046204/-clinical-features-and-vps33b-mutations-in-a-family-affected-by-arthrogryposis-renal-dysfunction-and-cholestasis-syndrome
#1
Da-Gui Huang, Jia-Jia Liu, Li Guo, Yuan-Zong Song
Arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome is an autosomal recessive disorder caused by mutations in the VPS33B or VIPAS39 gene. The aim of this study was to investigate the clinical features and VPS33B gene mutations of an infant with ARC syndrome. A 47-day-old female infant was referred to the hospital with the complaint of jaundiced skin and sclera for 45 days and abnormal liver function for 39 days. The patient had been managed in different hospitals, but the therapeutic effects were unsatisfactory due to undetermined diagnosis...
October 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29034507/screening-for-sturge-weber-syndrome-a-state-of-the-art-review
#2
REVIEW
Michaela Zallmann, Richard J Leventer, Mark T Mackay, Michael Ditchfield, Philip S Bekhor, John C Su
Infants with a high-risk distribution of port-wine stains are commonly screened for Sturge-Weber syndrome using brain magnetic resonance imaging. There is no consensus about which port-wine stain phenotypes to screen, optimal timing, screening sensitivity, or whether presymptomatic diagnosis improves neurodevelopmental outcomes. This state-of-the-art review examines the evidence in favor of screening for Sturge-Weber syndrome, based on its effect on neurodevelopmental outcomes, against the risks and limitations of screening magnetic resonance imaging and electroencephalography...
October 16, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28975212/laser-induced-neocollagenesis-in-focal-dermal-hypoplasia-associated-with-goltz-syndrome-in-a-girl
#3
Andrew C Krakowski, David M Ozog, David Ginsberg, Carol Cheng, Marsha L Chaffins
Importance: Current models of Goltz syndrome cannot estimate the overall neocollagenesis and marked shift in collagen types after ablative fractional laser resurfacing (AFR) within treated areas of focal dermal hypoplasia (FDH). Objectives: To clinically improve FDH by using AFR to characterize the specific ratio of collagen types associated with observed clinical changes. Design, Setting, and Participants: This case report of a girl with Goltz syndrome used extensive laboratory evaluation and multiple observers blinded to the patient's clinical status...
September 20, 2017: JAMA Dermatology
https://www.readbyqxmd.com/read/28871936/xanthoma-like-skin-changes-in-an-elderly-woman-with-a-normal-lipid-profile
#4
Piotr Nockowski, Zdzisław Woźniak, Adam Reich, Joanna Maj
Dear Editor, An 83-year-old woman developed yellow-brownish infiltrates, nodules, and tumors mimicking xanthomas, mostly involving the periorbital and chest area within three months (Figure 1). She had no abnormalities in serum cholesterol or triglycerides levels. A detailed laboratory analysis revealed the presence of mild monoclonal gammopathy with a presence of immunoglobulin G (IgG) kappa light chains; however, according to hematologist consultation, it did not require medical intervention. Imaging assessment and ultrasound examination did not show any specific involvement of internal organs...
July 2017: Acta Dermatovenerologica Croatica: ADC
https://www.readbyqxmd.com/read/28871934/diffuse-palmoplantar-keratoderma-onychodystrophy-universal-hypotrichosis-and-cysts
#5
Tasleem Arif, Syed Suhail Amin, Mohammad Adil, Mohd Mohtashim
Dear Editor, Clouston syndrome, also called hidrotic ectodermal dysplasia (HED), is an autosomal dominant ectodermal dysplasia characterized by a clinical triad of onychodystrophy, generalized hypotrichosis, and palmoplantar keratoderma (1). Herein we report the case of a 24-year-old male with the distinctive clinical triad associated with multiple epidermoid cysts, which probably reflects the phenotype of Clouston syndrome. A 24-year-old male presented to our Department with diffuse thickening of the skin of his palms and soles since infancy...
July 2017: Acta Dermatovenerologica Croatica: ADC
https://www.readbyqxmd.com/read/28856105/a-case-of-compartment-syndrome-in-the-scrotum-and-inguinal-area-complicating-idiopathic-nephrotic-syndrome-of-childhood
#6
Rola S Saqan, Rami S Alazab, Mohammed Allouh
Idiopathic nephrotic syndrome (INS) is a kidney disease characterized by massive proteinuria. Protein loss leads to decreased oncotic pressure shifting the fluids into the interstitial space causing edema, complications such as infections and thromboembolism occur. We report a 7-year-old, diagnosed with NS presenting with a relapse. He developed ascites and scrotal edema followed by severe scrotal pain and redness, progressing rapidly to ecchymosis in the inguinal areas not in continuity with the scrotum. Ultrasound with color Doppler was inconclusive, scrotal exploration was done along with skin incision in the inguinal areas and scrotum, which appeared to relieve the condition rapidly...
November 2017: Urology Case Reports
https://www.readbyqxmd.com/read/28839508/pathogenic-characterization-of-european-genotype-porcine-reproductive-and-respiratory-syndrome-virus-recently-isolated-in-mainland-china
#7
Sun Ming, Ma Yongying, Liu Bohua, Lu Huiying, Deng Xiaoyu, Liu Qiaorong, Qiao Mingming, Chen Xi, Yang Xinyan, Chen Xizhao
BACKGROUND: Porcine reproductive and respiratory syndrome virus (PRRSV) is an important pathogen in pig that causes tremendous economic loss in the global swine industry. PRRSV is divided into the European and North American genotypes, with virulence ranging from apathogenic-moderately virulent to highly pathogenic. The emergence of new highly virulent type 1 strains and coexistence of the two genotypes complicate the differential diagnosis, disease prevention, and control of PRRSV. Although the emergence of a novel type 1 PRRSV strain in mainland China was first confirmed in 2011, there is no information available concerning the pathogenesis of this strain...
2017: Open Virology Journal
https://www.readbyqxmd.com/read/28836099/cutaneous-manifestations-of-small-vessel-leukocytoclastic-vasculitides-in-childhood
#8
REVIEW
Sebastiano A G Lava, Gregorio P Milani, Emilio F Fossali, Giacomo D Simonetti, Carlo Agostoni, Mario G Bianchetti
In childhood, cutaneous small-vessel vasculitides include Henoch-Schönlein syndrome, a systemic vasculitis, and Finkelstein-Seidlmayer syndrome, a skin-limited vasculitis. Both Henoch-Schönlein and Finkelstein-Seidlmayer syndromes are seen more frequently in white or Asian compared with black children and occur especially in winter and spring with a male-to-female ratio of approximately 2:1. In everyday clinical practice, both conditions are diagnosed on clinical grounds without histological confirmation...
August 24, 2017: Clinical Reviews in Allergy & Immunology
https://www.readbyqxmd.com/read/28769806/a-red-blood-cell-membrane-camouflaged-nanoparticle-counteracts-streptolysin-o-mediated-virulence-phenotypes-of-invasive-group-a-streptococcus
#9
Tamara Escajadillo, Joshua Olson, Brian T Luk, Liangfang Zhang, Victor Nizet
Group A Streptococcus (GAS), an important human-specific Gram-positive bacterial pathogen, is associated with a broad spectrum of disease, ranging from mild superficial infections such as pharyngitis and impetigo, to serious invasive infections including necrotizing fasciitis and streptococcal toxic shock syndrome. The GAS pore-forming streptolysin O (SLO) is a well characterized virulence factor produced by nearly all GAS clinical isolates. High level expression of SLO is epidemiologically linked to intercontinental dissemination of hypervirulent clonotypes and poor clinical outcomes...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28652438/a-head-to-head-comparison-between-surgimend%C3%A2-fetal-bovine-acellular-dermal-matrix-and-tutomesh%C3%A2-a-bovine-pericardium-collagen-membrane-in-breast-reconstruction-in-45-cases
#10
Christian Eichler, Jeria Efremova, Klaus Brunnert, Christian M Kurbacher, Oleg Gluz, Julian Puppe, Mathias Warm
BACKGROUND/AIM: The use of acellular dermal matrices (ADM) has become a widely used option in breast reconstruction. A great deal of literature is available, totaling over 3,200 ADM reconstructions. Head-to-head comparisons between SurgiMend® and Tutomesh® are not yet reported. These are the first comparative clinical data reported on the use of Tutomesh® in breast reconstruction. Postoperative complication rates and costs for these devices were evaluated. PATIENTS AND METHODS: This is a retrospective analysis of a 2-year experience with both SurgiMend® - fetal bovine acellular dermal matrix and Tutomesh® - a bovine pericardium collagen membrane in breast reconstruction in 45 cases from 2014-2015...
July 2017: In Vivo
https://www.readbyqxmd.com/read/28615835/haematological-changes-in-south-indian-fresh-water-murrel-channa-punctatus-have-both-eus-and-a-hydrophila-infection
#11
Koteshwar Rao Podeti, G Benarjee
The mixed infection in fishes is a common feature and in this Pathogens like Bacteria, Fungi and Protozoan's are found together to cause ill health to the fishes known as Epizootic Ulcerative Syndrome (EUS). In this syndrome the low temperature and aquatic pollution aggravates the infection in fishes. In the present study the fresh water edible fish, Channa punctatus (Murrel) was found infected with the bacteria namely, Aeromonas hydrophila, Staphylococcus aureus, Pseudomonas aeruginosa and Salmonella salmonicida...
June 2017: Journal of Parasitic Diseases: Official Organ of the Indian Society for Parasitology
https://www.readbyqxmd.com/read/28560784/reversible-and-cachexia-associated-feline-skin-fragility-syndrome-in-three-cats
#12
Nicla Furiani, Ilaria Porcellato, Chiara Brachelente
BACKGROUND: Feline skin fragility syndrome (FSFS) is an acquired disorder characterized by altered collagen production resulting in an extremely thin and fragile skin. FSFS is associated with diseases characterized by excessive steroidal hormones that can inhibit collagen synthesis. It is also described concomitantly with severe inflammatory, infectious or neoplastic conditions where the pathogenesis remains largely unknown. OBJECTIVES: To describe three cases of FSFS in cats that become cachectic secondary to different causes without glucocorticoid involvement...
May 31, 2017: Veterinary Dermatology
https://www.readbyqxmd.com/read/28467221/audit-of-skin-changes-present-in-referrals-to-a-specialist-lymphoedema-service
#13
Marie Todd, Margaret Key, Margaret Rice, Michelle Salmon
An audit of 100 new patients attending a specialist lymphoedema clinic revealed 52% presented with chronic oedema. More than half (58%) of the chronic oedema group presented with skin changes whereas 14% of those with lipoedema, 4% with lymphoedema of the arm, and 8% with lymphoedema of the leg developed skin changes. None of the primary lymphoedema group developed skin changes. Chronic venous disease (CVD) was significantly more prevalent in the chronic oedema group. More patients with bilateral chronic oedema suffered from cellulitis (41%) compared to unilateral (27%)...
May 1, 2017: British Journal of Community Nursing
https://www.readbyqxmd.com/read/28431416/caring-for-critically-injured-children-an-analysis-of-56-pediatric-damage-control-laparotomies
#14
Miguel A Villalobos, Joshua P Hazelton, Rachel L Choron, Lisa Capano-Wehrle, Krystal Hunter, John P Gaughan, Steven E Ross, Mark J Seamon
BACKGROUND: Injury is the leading cause of death in children under 18 years. Damage control principles have been extensively studied in adults but remain relatively unstudied in children. Our primary study objective was to evaluate the use of damage control laparotomy (DCL) in critically injured children. METHODS: An American College of Surgeons-verified Level 1 trauma center review (1996-2013) of pediatric trauma laparotomies was undertaken. Exclusion criteria included: age older than 18 years, laparotomy for abdominal compartment syndrome or delayed longer than 2 hours after admission...
May 2017: Journal of Trauma and Acute Care Surgery
https://www.readbyqxmd.com/read/28325509/red-eyes-and-skin-lesions-sweet-histiocytoid-syndrome
#15
Sheila Requena López, Cayetana Maldonado Seral, Maria Paz González Gutiérrez
No abstract text is available yet for this article.
March 18, 2017: Medicina Clínica
https://www.readbyqxmd.com/read/28291150/acquired-constriction-ring-a-case-of-rubber-band-syndrome
#16
Rahel Meier, Luzian Haug, Carsten Surke, Lukas Mathys, Esther Vögelin
Rubber band syndrome is a rare entity seen in younger children mainly in communities where rubber bands are worn around the wrist for decorative purposes. When the band is worn for a long duration, it burrows through the skin and soft tissues resulting in distal edema, loss of function, and even damage to the neurovascular structures. These symptoms are difficult to relate to this rare but typical condition. We report a case of a 2¾-year-old girl with the history of a linear circumferential scar at the right wrist combined with the limited use of a swollen hand for several weeks...
March 13, 2017: Pediatric Emergency Care
https://www.readbyqxmd.com/read/28255467/type-1-kounis-syndrome-in-patient-with-idiopathic-anaphylaxis
#17
Tajda Keber, Jana Makuc, Gregor Sekavčnik
Kounis syndrome represents the concurrence of acute coronary syndromes or anginal pain with allergic, hypersensitivity, and anaphylactic reactions. It can be associated with normal coronary angiogram or preexistent coronary pathology. Idiopathic anaphylaxis is defined as anaphylaxis without any identifiable precipitating agent or event. We present a case of male who experienced attacks of dyspnoea, hypoxemia, hypotension, purple-red skin, and chest pain over several years. He was diagnosed with idiopathic anaphylaxis...
2017: Case Reports in Cardiology
https://www.readbyqxmd.com/read/28194291/internal-jugular-and-subclavian-vein-thrombosis-in-a-case-of-ovarian-cancer
#18
Hiroto Moriwaki, Nana Hayama, Shouko Morozumi, Mika Nakano, Akari Nakayama, Yoshiomi Takahata, Yuusuke Sakaguchi, Natsuki Inoue, Toshiki Kubota, Akiko Takenoya, Yoshiko Ishii, Haruka Okubo, Souta Yamaguchi, Tsuyoshi Ono, Toshiaki Oharaseki, Mamoru Yoshikawa
Central venous catheter insertion and cancer represent some of the important predisposing factors for deep venous thrombosis (DVT). DVT usually develops in the lower extremities, and venous thrombosis of the upper extremities is uncommon. Early diagnosis and treatment of deep venous thrombosis are of importance, because it is a precursor of complications such as pulmonary embolism and postthrombotic syndrome. A 47-year-old woman visited our department with painful swelling on the left side of her neck. Initial examination revealed swelling of the region extending from the left neck to the shoulder without any redness of the overlying skin...
2017: Case Reports in Otolaryngology
https://www.readbyqxmd.com/read/28193191/effective-inhibition-of-mers-cov-infection-by-resveratrol
#19
Shih-Chao Lin, Chi-Tang Ho, Wen-Ho Chuo, Shiming Li, Tony T Wang, Chi-Chen Lin
BACKGROUND: Middle East Respiratory Syndrome coronavirus (MERS-CoV) is an emerging viral pathogen that causes severe morbidity and mortality. Up to date, there is no approved or licensed vaccine or antiviral medicines can be used to treat MERS-CoV-infected patients. Here, we analyzed the antiviral activities of resveratrol, a natural compound found in grape seeds and skin and in red wine, against MERS-CoV infection. METHODS: We performed MTT and neutral red uptake assays to assess the survival rates of MERS-infected Vero E6 cells...
February 13, 2017: BMC Infectious Diseases
https://www.readbyqxmd.com/read/27882570/ultrastructural-and-biomolecular-detection-of-rickettsiales-like-organisms-in-tissues-of-rainbow-trout-with-red-mark-syndrome
#20
M Galeotti, M Manzano, P Beraldo, C Bulfon, G Rossi, D Volpatti, G E Magi
Red mark syndrome (RMS) and US strawberry disease (US SD) are skin disorders affecting rainbow trout farmed in Europe and USA. The disease etiology has not yet been established. In spite of specific investigations, identifying Rickettsia-like organism (RLO)- and Midichloria-like organism (MLO)-related DNA in affected individuals, these pathogens have never been observed. We performed histological, ultrastructural and biomolecular analysis on skin and spleen samples of trout with RMS. Examination by TEM revealed the presence of intracytoplasmic microorganisms resembling Rickettsiales within macrophages, fibroblasts and erythrocytes...
July 2017: Journal of Fish Diseases
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