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Diagnosis and treatment

Marina Flotats-Bastardas, Daniel Ebrahimi-Fakhari, Ludwig Gortner, Martin Poryo, Michael Zemlin, Alfons Macaya-Ruiz, Sascha Meyer
Tuberous sclerosis complex (TSC) is a genetic disease with a significant morbidity and mortality. We conducted a retrospective analysis of two cohorts (Vall d'Hebron University Hospital [HVH], Barcelona, Spain, 1982-2015, and at Saarland University Medical Center [UKS], Homburg, Germany, 1998-2015) to assess prevalence and treatment of TSC associated manifestations and to evaluate if the follow-up was in line with published recommendations. This was considered if more than 15% of patients did not receive adequate examination with regard to potential organ involvement...
March 20, 2018: Neuropediatrics
María Del Pino, Amado Andrés, Ana Ávila Bernabéu, Joaquín de Juan-Rivera, Elvira Fernández, Juan de Dios García Díaz, Domingo Hernández, José Luño, Isabel Martínez Fernández, José Paniagua, Manuel Posada de la Paz, José Carlos Rodríguez-Pérez, Rafael Santamaría, Roser Torra, Joan Torras Ambros, Pedro Vidau, Josep-Vicent Torregrosa
Fabry disease (FD) is a rare, X-linked disorder caused by mutations in the GLA gene encoding the enzyme α-galactosidase A. Complete or partial deficiency in this enzyme leads to intracellular accumulation of globotriaosylceramide (Gb3) and other glycosphingolipids in many cell types throughout the body, including the kidney. Progressive accumulation of Gb3 in podocytes, endothelial cells, epithelial cells, and tubular cells contribute to the renal symptoms of FD, which manifest as proteinuria and reduced glomerular filtration rate leading to renal insufficiency...
March 16, 2018: Kidney & Blood Pressure Research
Sebastian Povlsen, Bo Povlsen
The diagnosis of thoracic outlet syndrome (TOS) has long been a controversial and challenging one. Despite common presentations with pain in the neck and upper extremity, there are a host of presenting patterns that can vary within and between the subdivisions of neurogenic, venous, and arterial TOS. Furthermore, there is a plethora of differential diagnoses, from peripheral compressive neuropathies, to intrinsic shoulder pathologies, to pathologies at the cervical spine. Depending on the subdivision of TOS suspected, diagnostic investigations are currently of varying importance, necessitating high dependence on good history taking and clinical examination...
March 20, 2018: Diagnostics
Aleksandra Szuster, Justyna Tyburek, Karolina Widłak, Piotr Wilkołek, Karol Wiśniewski, Maria Majdan
The coexistence of systemic lupus erythematosus (SLE) and psoriasis is rarely observed in everyday clinical practice. Apart from providing a correct diagnosis, a major difficulty is to provide a proper treatment. In this case, for example, the use of systemic glucocorticosteroids may have a negative effect on the course of psoriasis, whereas phototherapy, which is widely practiced in psoriasis, may cause SLE exacerbation. The aim of the paper is to present the difficulty along the diagnostic process and in choosing the best type of treatment for patients with a coexistence of SLE and psoriasis and also a review of the subject-related literature...
2018: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
Monika Turska, Jolanta Parada-Turska
Cutaneous polyarteritis nodosa is a rare disease that affects vessels of the deep skin and the subcutaneous tissue. Its etiopathology remains unknown. It predominantly affects skin, and the main cutaneous symptoms are subcutaneous nodules, livedo reticularis, and ulcerations that are mainly located on legs. Cutaneous polyarteritis nodosa can also cause extracutaneous symptoms (fever, malaise, myalgias, arthralgias, neuropathy). It is a chronic benign disease with a relapsing course. Diagnostic criteria for this disease were recently proposed and both clinical and typical histological features must be present to confirm the diagnosis...
2018: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
Jolanta Parada-Turska, Monika Turska
Polyarteritis nodosa is a systemic necrotizing vasculitis which predominantly affects medium-sized arteries. It is a rare disease nowadays. Both the nomenclature and the classification of polyarteritis nodosa was amended several times in the past. Currently, there is a distinction between the primary form described as classical polyarteritis nodosa and other forms that are associated with their probable cause e.g. with viral hepatitis B, C or HIV infection. Moreover, polyarteritis-like necrotizing vasculitis can appear in the course of genetic diseases caused by mutations in single genes...
2018: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
Dorota Suszek, Maria Majdan
Cryoglobulinemia is defined as the presence of cryoglobulins in the blood. Cryoglobulinemia is often observed in the course of many diseases (infection, hematological disorders, autoimmune disorders) or has an idiopathic character. The classification of cryoglobulinemia is based on the immunological analysis of cryoglobulins and the activity of the rheumatoid factor (RF). The presence of cryoglobulins may induce cryoglobulinemic vasculitis (CV) which manifests with skin changes, arthritis and the dysfunction of internal organs...
2018: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
Zbigniew Zdrojewski
Recognizing the antiphospholipid syndrome (APS) in patients with lupus (SLE) can be difficult and therefore underestimated. Detection of antiphospholipid antibodies (aPL) in each patient with SLE should be done as a rule. Introduction of the new classification criteria of this syndrome will certainly improve the recognition of APS in the future. The Sapporo APS classification criteria (1998) were replaced by the Sydney criteria in 2006. Based on the most recent criteria, classification with APS requires one clinical and one laboratory manifestation...
2018: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
Erica Dimitropoulos, Stephanie Bertucci, Kara Wong
BACKGROUND: Research has demonstrated that the combination of pharmacotherapy and psychological interventions in alcohol use disorder (AUD) treatment is superior to either alone. Despite this, medications remain highly underutilized in many outpatient treatment facilities. Pharmacists can serve as an excellent resource to aid in improving access to medications. METHODS: This study was a prospective, longitudinal evaluation of a pharmacist's role in a substance use disorder (SUD) clinic, specifically an intensive outpatient program (IOP)...
March 20, 2018: Substance Abuse
Ignacio Javier Fernandez, Francesco Maria Crocetta, Marco Demattè, Paolo Farneti, Marta Stanzani, Russel E Lewis, Martina Fornaciari, Ernesto Pasquini, Vittorio Sciarretta
Objective The aims of the present study were to evaluate the clinical significance of the delay for surgical treatment and the prognostic value of other clinical, pathologic, and microbiological variables among hematologic patients affected by acute invasive fungal rhinosinusitis (AIFRS). Furthermore, we propose our early diagnosis and treatment protocol, reporting its 10-year results. Study Design Monocentric retrospective analysis. Setting The study was conducted from 2001 to 2017 at the University Hospital of Bologna, Italy...
March 1, 2018: Otolaryngology—Head and Neck Surgery
Steven K M Lau, Bhavani S Gannavarapu, Kristen Carter, Ang Gao, Chul Ahn, Jeffrey J Meyer, David J Sher, Aminah Jatoi, Rodney Infante, Puneeth Iyengar
PURPOSE: Socioeconomic status (SES) influences health care outcomes, but the influence of primary payer on cancer-associated wasting is unknown. We hypothesized that primary payer as an indicator of SES would influence pretreatment cancer-associated weight loss and treatment outcomes. MATERIALS AND METHODS: Retrospective review of medical records identified 1,366 patients with non-small-cell lung cancer (NSCLC) consecutively treated at a tertiary care health system between January 1, 2006 and December 31, 2013...
March 20, 2018: Journal of Oncology Practice
Dariusz Janczak, Jacek Rać, Wiktor Pawłowski, Tadeusz Dorobisz, Agnieszka Ziomek, Dawid Janczak, Michał Leśniak, Mariusz Chabowski
BACKGROUND: Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the digestive system. The primary location of GISTs is mainly the gastrointestinal system. Clinical symptoms are nonspecific and mainly depend on the location and size of the tumor. OBJECTIVES: The aim of this study was to conduct a clinical and pathological analysis of 18 cases of GISTs from the medical records of the Department of Surgery at the 4th Military Teaching Hospital in Wrocław, Poland...
March 20, 2018: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
Xiaoyan Liu, Wen Yuan, Lei Yang, Jing Li, Jun Cai
The role and miRNA expression profile of exosomes in hypertension remain largely unknown. Therefore, next-generation sequencing was used to define the miRNA expression profile of plasma exosomes in spontaneously hypertensive rats (SHRs), the most widely used animal model of human essential hypertension, and their controls, normotensive Wistar-Kyoto rats (WKYs). Results revealed that percentages of miRNA in the total small RNA isolated from SHRs and WKYs were not significantly different. Twenty-seven miRNAs were significantly differentially expressed (DE) between SHR and WKY exosomes, including 23 up-regulated and four down-regulated in SHR exosomes as compared to WKY exosomes...
March 20, 2018: Journal of Cardiovascular Translational Research
Andrew Bastawrous, Wanjiku Mathenge, John Buchan, Fatima Kyari, Tunde Peto, Hillary Rono, Helen A Weiss, David Macleod, Allen Foster, Matthew Burton, Hannah Kuper
PURPOSE: Glaucoma is a leading cause of blindness in people of African descent. Minimal data is available from African population-based cohort studies. The primary aims of this study were to describe the normative distribution of glaucoma features to enable glaucoma classification and to assess risk factors for those with glaucoma at follow-up among people aged ≥50 years in Kenya. MATERIALS AND METHODS: Random cluster sampling with probability proportionate to size was used to select a representative cross-sectional sample of adults aged ≥50 years in 2007-8 in Nakuru District, Kenya...
March 19, 2018: Journal of Glaucoma
Valentina O Puntmann, Andreas M Zeiher, Eike Nagel
Myocarditis and its sequelae remain an unconquered clinical problem, disproportionately affecting the young. Several hurdles beset myocarditis, including nonspecific symptoms, heterogeneous clinical presentation, dynamic disease stages, underscored by an absence of an easy diagnostic test or a specific treatment. Areas covered: The current diagnostic means are poorly equipped to counter the challenge; the gold standard by invasive endomyocardial biopsy relies on availability of expert procedural and reading skill...
March 20, 2018: Expert Review of Cardiovascular Therapy
Elisa Vaiani, Cintia Morales, Florencia Soto, Yeny Blanco, Carlos Rugilo, Marta Ciaccio, Alicia Belgorosky
Giant prolactinomas are rare pituitary adenomas characterized by their great local invasion. In this paper, we report a 15-year-old male with left retro-ocular pain and ipsilateral exophthalmos of 4 months of evolution, secondary to a tumour in the base of the skull that invaded the orbit. Hormonal studies revealed serum prolactin of 6913,7 ng/ml (normal value < 20), confirming the diagnosis of giant prolactinoma. The patient started treatment with the dopaminergic agonist cabergoline in increasing doses...
April 1, 2018: Archivos Argentinos de Pediatría
Burçin Şanlidag, Ceyhun Balkan, Nerin Bahçeciler
Kawasaki Disease (KD) is a systemic autoimmune vasculitis that affects small and medium sized vessels. Main complication of Kawasaki Disease is coronary artery aneurism, which has higher risk in case of delayed diagnosis and treatment. Although, complete and incomplete KD cases in different types of immune deficiency diseases have been presented up to date, clinical course of KD in patients with hypogammaglobulinemia (HG) has not been reported. Herein, a case diagnosed as incomplete KD in a child with transient HG of infancy has been reported...
April 1, 2018: Archivos Argentinos de Pediatría
Irene Baquedano Lobera, Raquel Bernadó Fonz, Sara Laliena Aznar, Matilde Bustillo Alonso, Carmelo Guerrero Laleona
The main clinical manifestation of human herpesvirus 6 is exanthema subitum (also known as roseola infantum) and febrile syndrome. Central nervous system manifestations are not unusual in herpesvirus 6 infection, and even though the pathophysiology is not clear, they need to be early diagnosed and treated in order to avoid potentially serious damage. We present the case of an immunocompetent 2-year-old girl with encephalitis as a complication of herpesvirus 6 infection. We want to emphasize the significance of an early diagnosis and treatment in order to prevent further complications due to the central nervous system extension...
April 1, 2018: Archivos Argentinos de Pediatría
Claudia Salomone B, Isabel Ogueta C, Carlos Reyes V, Gloria Durán S, Noemí Aguirre, Angélica Wietstruck
Congenital erythropoietic porphyria is an extremely rare, autosomal recessive, non-acute cutaneous porphyria, caused by uroporphyrinogen III synthase deficiency, codificated by UROS gene on the chromosome 10q26.2. Porphyrins deposit in cornea, bones and teeth. The first symptoms could be manifested in early childhood, with skin fragility, vesicles and bullae. Severe course produces acral tissues mutilation, eye involvement, hemolytic anemia and hypersplenism. The treatment is complex and it is based in the photoprotection...
April 1, 2018: Archivos Argentinos de Pediatría
Lidia García-Agudo, Jorge J Espinosa-Ruiz
Tinea capitis is considered the most frequent dermatophyte infection in children. The etiological agents vary from time to time and by geographical area, although they normally are zoophilic dermatophytes and in the last years also anthropophilic species. We report a clinical case of inflammatory tinea capitis in a 6-year-old child caused by Microsporum gypseum, a geophilic fungus pathogenic to humans and animals. The sources of human infection are soil, cats, dogs and small mammals. This species is less frequent as a cause of dermatophytosis in humans, described mainly in tinea corporis and rarely in tinea capitis...
April 1, 2018: Archivos Argentinos de Pediatría
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