Search results for "Mali"
showing 10 items of 3900 documents
Pili Torti: A Feature of Numerous Congenital and Acquired Conditions
2021
Pili torti is a rare condition characterized by the presence of the hair shaft, which is flattened at irregular intervals and twisted 180° along its long axis. It is a form of hair shaft disorder with increased fragility. The condition is classified into inherited and acquired. Inherited forms may be either isolated or associated with numerous genetic diseases or syndromes (e.g., Menkes disease, Björnstad syndrome, Netherton syndrome, and Bazex-Dupré-Christol syndrome). Moreover, pili torti may be a feature of various ectodermal dysplasias (such as Rapp-Hodgkin syndrome and Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome). Acquired pili torti was described in numerous forms of …
Pediatric oncologic endosurgery.
2017
Despite increasing popularity of minimal-invasive techniques in the pediatric population, their use in diagnosis and management of pediatric malignancy is still debated. Moreover, there is limited evidence to clarify this controversy due to low incidence of each individual type of pediatric tumor, huge diversity of the disease entity, heterogeneity of surgical technique, and lack of well-designed studies on pediatric oncologic minimal-invasive surgery. However, a rapid development of medical instruments and technologies accelerated the current trend toward less invasive surgery, including oncologic endosurgery. The aim of this article is to review current literatures about the application o…
PATHOPHYSIOLOGY AND CLINICAL ASPECTS OF URINARY LITHIASIS
2007
Urine is a complex balanced solution containing dissociated and non-dissociated solutes. Any variation in urine saturation grade (number of crystals dissolved in a volume of urine), urinary pH and the concentration of crystallization inhibitors can break the normal existing balance and lead to urolithiasis. In the present article we analyze the principal mechanisms (absorptive, renal, resorptive) of hypercalciuria. It will be also shown how heredity directly influences the clinical aspects of cystine, xanthine and oxalate lithiasis and how diet, in association with metabolic disorders, interferes in uric acid and oxalate stone formation. Finally, we report on the roles of urinary tract malf…
Imaging of cervical lymph node metastases in malignant jugular paraganglioma: Imaging of paraganglioma metastases
2009
Not available
Novel missense mutation of the TP63 gene in a newborn with Hay-Wells/Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome: clinical rep…
2021
Abstract Introduction Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome, also known as Hay-Wells syndrome, is a rare genetic syndrome with ectodermal dysplasia. About 100 patients have been reported to date. It is associated to a heterozygous mutation of the tumor protein p63 (TP63) gene, located on chromosome 3q28. Typical clinical manifestations include: filiform ankyloblepharon adnatum (congenital adherence of the eyelids), ectodermal abnormalities (sparse and frizzy hair, skin defects, nail alterations, dental changes and hypohidrosis), and cleft lip/palate. Diagnostic suspicion is based on clinical signs and confirmed by genetic testing. Patient’s presentation We hereb…
Toxicity effects of the organic UV-filter 4-Methylbenzylidene camphor in zebrafish embryos
2019
Abstract Ultraviolet (UV) filters are widely used in personal care products and due to their lipophilicity these chemicals tend to bioaccumulate in the aquatic biota. 4-Methylbenzylidene camphor (4-MBC) is one of the most used UV-filters, and it is commonly detected in freshwater fish tissues. This substance is suspected to be an endocrine disruptor due to its interaction with Hypothalamus-Pituitary-Gonadal (HPG) and HP-Thyroid (HPT)-axis. The main objective of this study was to evaluate the effects of 4-MBC on apical endpoints, biochemical markers and on genes involved in endocrine pathways in Danio rerio. Zebrafish embryos were exposed to 4-MBC (0.083–0.77 mg/l) from 0 to 96 h post-fertil…
Retinoid receptors and vitamin A deficiency: differential patterns of transcription during early avian development and the rapid induction of RARs by…
2003
The functional links of specific retinoid receptors to early developmental events in the avian embryo are not known. Before such studies are undertaken, knowledge is required of the spatiotemporal expression patterns of the receptor genes and their regulation by endogenous retinoic acid levels during the early stages of development. Here, we report the expression patterns of mRNAs for RARalpha, RARalpha2, RARbeta2, RARgamma, RARgamma2, RXRalpha, and RARgamma from neurulation to HH10 in the normal and vitamin A-deficient (VAD) quail embryo. The transcripts for all retinoid receptors are detectable at HH5, except for RXRgamma, which is detected at the beginning of HH6. At the 4/5 somite stage…
Performing, Analyzing, and Interpreting HRAM and HDAM Recordings
2020
Anorectal manometry is one of the most widely performed tests for the assessment of anal sphincter function and anorectal coordination. Nowadays high resolution (HRAM) and high definition anorectal manometry (HDAM) are available, instead of the water-perfused system. The ability to visualize the anorectum as a dynamic structure during test maneuvers should intuitively allow for a better appreciation of the normal physiology and hopefully enhance our understanding of the pathophysiology of defecatory dysfunctions. Even if the anorectal manometry protocols can vary by centers, the procedure must include an assessment of rectoanal pressure and anal canal length at rest, cough reflex test, rect…
Cost-effectiveness of switching from omalizumab to mepolizumab in uncontrolled severe eosinophilic asthma
2020
Background: Severe asthma is burdened by frequent exacerbations and use of oral corticosteroids (OCS) which worsen patients’ quality of life and increased healthcare spending. Objectives: To assess the clinical and economic impact of switching from omalizumab (OMA) to mepolizumab (MEP) in patients eligible for both biologics but not optimally controlled with OMA. Methods: Uncontrolled patients referred to 6 asthma clinics in south of Italy switched from OMA to MEP, were enrolled and followed-up to Jan 2020. Clinical information included blood eosinophil count, asthma control test (ACT), pulmonary function, IgE, exhaled nitric oxide (FeNO), OCS intake, drugs, exacerbations/hospitalizations, …
Malignant metastatic melanoma to the gallbladder: Report of a peculiar case
2020
Highlights • Melanoma is one of the most aggressive and one of the fastest growing types of cancer. The gallbladder envolvement from a metastatic cutaneous malignant melanoma is a highly uncommon finding, usually associated with diffuse metastatic disease and observed during autopsy. • We report a case of a 35-years old Caucasian woman with isolated metastasis of gallbladder form cutaneous primary malignant melanoma underwent to laparoscopic cholecystectomy. • Malignant cutaneous melanoma is a skin cancer characterized by the highest mortality. Isolated metastasis of gallbladder are barely described and mostly present in a widespread metastatic disease. Surgical treatment is indicated consi…