Search results for "GENETICS"

The production of the oral mucosa of antiendomysial and anti-tissue-transglutaminase antibodies in patients with celiac disease: a review.

2010

Celiac disease (CD) is a lifelong, T cell—mediated enteropathy, triggered by the ingestion of gluten and related prolamins in genetically susceptible subjects, resulting in minor intestinal mucosal injury, including villous atrophy with crypt hyperplasia and intraepithelial lymphocytosis, and subsequent nutrient malabsorption. Although serological tests for antiendomysial (EMA) and anti—tissue transglutaminase (anti-tTG) autoantibodies are used to screen and follow up on patients with CD, diagnostic confirmation is still based on the histological examination of the small intestinal mucosa. Although the small intestinal mucosa is the main site of the gut involved in CD, other mucosal surface…

Long-term efficacy of lipoprotein apheresis and lomitapide in the treatment of homozygous familial hypercholesterolemia (HoFH): a cross-national retr…

2021

Abstract Background Homozygous familial hypercholesterolemia (HoFH) is a rare life-threatening condition that represents a therapeutic challenge. The vast majority of HoFH patients fail to achieve LDL-C targets when treated with the standard protocol, which associates maximally tolerated dose of lipid-lowering medications with lipoprotein apheresis (LA). Lomitapide is an emerging therapy in HoFH, but its place in the treatment algorithm is disputed because a comparison of its long-term efficacy versus LA in reducing LDL-C burden is not available. We assessed changes in long-term LDL-C burden and goals achievement in two independent HoFH patients’ cohorts, one treated with lomitapide in Ita…

miRNA-23b as a biomarker of culture-positive neonatal sepsis

2020

Abstract Background Neonatal sepsis remains an important cause of morbidity and mortality. The ability to quickly and accurately diagnose neonatal sepsis based on clinical assessments and laboratory blood tests remains difficult, where haemoculture is the gold standard for detecting bacterial sepsis in blood culture. It is also very difficult to study because neonatal samples are lacking. Methods Forty-eight newborns suspected of sepsis admitted to the Neonatology Department of the Mother-Child Specialized Hospital of Tlemcen. From each newborn, a minimum of 1–2 ml of blood was drawn by standard sterile procedures for blood culture. The miRNA-23b level in haemoculture was evaluated by RT-qP…

Indomethacin treatment in amphotericin B induced nephrogenic diabetes insipidus.

1994

Nephrogenic diabetes insipidus (NDI) is a serious side effect of various drugs. Elevated renal prostaglandin E2 levels have been found in patients with lithium-induced NDI and have been implicated in the pathogenesis. We report the case of a patient who developed NDI following treatment with amphotericin B. Prostaglandin levels were elevated. Indomethacin had an antidiuretic effect and normalized prostaglandin levels.

Minimizing the dermatoscopic morphologic overlap between basal and squamous cell carcinoma: a retrospective analysis of initially misclassified tumou…

2020

BACKGROUND Basal cell carcinoma (BCC) and squamous cell carcinoma (SCC) have well-established dermatoscopic criteria that make them relatively easy to recognize on a clinical basis. However, even with the addition of dermatoscopy, a morphologic overlap between the two tumours does exist. OBJECTIVES To analyse the dermatoscopic morphology of clinically and dermatoscopically misclassified BCCs and SCCs, to identify factors causing the erroneous clinical interpretation and, therefore, minimize the morphologic overlap between BCC and SCC. METHODS Retrospective study including histopathologically diagnosed BCCs or SCCs that had been clinically inversely diagnosed. Their dermatoscopic images were…

Autofluorescence imaging for recurrence detection in skin cancer postoperative scars

2020

This clinical study is a first attempt to use autofluorescence for recurrence diagnosis of skin cancer in postoperative scars. The proposed diagnostic parameter is based on a reduction in scar autofluorescence, evaluated in the green spectral channel. The validity of the method has been tested on 110 postoperative scars from 56 patients suspected of non-melanoma skin cancer, with eight patients (13 scars) available for the repeated examination. The recurrence diagnosis within a scar has been made after two subsequent autofluorescence check-ups, representing the temporal difference between the scar autofluorescence amplitudes as a vector. The recognition of recurrence has been discussed to r…

Do we understand the pathophysiology of GERD after sleeve gastrectomy?

2020

Gastroesophageal reflux disease (GERD), a prevalent problem among obese individuals, is strongly associated with obesity and weight loss. Hence, bariatric surgery effectively improves GERD for many patients. Depending on the type of bariatric procedure, however, surgery can also worsen or even cause a new onset of GERD. As a consequence, GERD remains a relevant problem for many bariatric patients, and especially those who have undergone sleeve gastrectomy (SG). Affected patients report not only a decrease in physical functioning but also suffer from mental and emotional problems, resulting in poorer social functioning. The pathomechanism of GERD after SG is most likely multifactorial and tr…

Cytogenetics of the land snails Cantareus aspersus and C. mazzullii (Mollusca: Gastropoda: Pulmonata).

2004

A cytogenetic study was carried out on the chromosomes and nuclear DNA contents of the land snails Cantareus aspersus and C. mazzullii (Gastropoda: Pulmonata). Chromosomes were studied using Giemsa staining, banding methods and fluorescent in situ hybridization (FISH) with three repetitive DNA probes [18S rDNA, (GATA)n and (TTAGGG)n]. Results were very similar in the two species both showing (1) 54 bi-armed chromosomes [submetacentrics (SM) C metacentrics (M) C subtelocentrics (ST)]; (2) 10 terminal NORs after sequential application of rDNA FISH and silver staining; (3) uniform DNA fluorescence with CMA3 and DAPI staining and (4) genomic composition considerably enriched both in highly- and…

Sotos syndrome and lymphoproliferative disorders: Reply to T. Cole and J. Allanson

1998

Problem solving in psychopharmacotherapy using pharmacokinetic and pharmacogenetic tests

2007

Many problems such as non-response, pharmacokinetic interactions with clinical consequences and adverse effects (pharmacovigilance) may be observed in patients submitted to psychopharmacotherapy. These risks are increased in patients belonging to the category of “special populations”: elderly patients, children and adolescents, patients with a genetic particularity of metabolism or suffering from somatic or psychic comorbidities. Pharmacokinetic and pharmacogenetic tests are useful to solve problems in psychopharmacotherapy and thus improve efficacy and safety. Therapeutic drug monitoring (TDM) is particularly recommended in situations presented above and in patients who are non-compliant. …