Search results for "Repo"
showing 10 items of 2753 documents
Prader–Willi Syndrome with Angelman Syndrome in the Offspring
2021
We report the second case, to the best of our knowledge, of a mother with Prader–Willi syndrome (PWS) who gave birth to a daughter with Angelman syndrome (AS). The menarche occurred when she was 16, and the following menstrual cycles were irregular, but she never took sexual hormone replacement therapy. At the age of 26, our patient with PWS became pregnant. The diagnosis was confirmed by molecular genetic testing that revealed a ~5.7 Mb deletion in the 15q11.1–15q13 region on the paternal allele in the mother with PWS and the maternal one in the daughter with AS, respectively. Both the mother with PWS and the daughter with AS showed peculiar clinical and genetic features of the two syndrom…
Evaluation of main functional dyspepsia symptoms after probiotic administration in patients receiving conventional pharmacological therapies
2021
Objective Postprandial distress syndrome (PDS) and epigastric pain syndrome (EPS) are the two main forms of functional dyspepsia (FD). Probiotics are a promising therapy for FD, but current data remains heterogeneous. This work aims to evaluate a probiotic combination of Lacticaseibacillus rhamnosus LR04 (DSM 16605), Lactiplantibacillus pentosus LPS01 (DSM 21980), Lactiplantibacillus plantarum LP01 (LMG P-21021), and Lactobacillus delbrueckii subsp. delbruekii LDD01 (DMS 22106), alone or together with other pharmacological therapies, for clinical improvement of symptoms associated with FD. Methods Patients with FD were enrolled and divided into two groups: PDS and EPS. Probiotic alone or co…
Immune-Mediated Desquamative Gingivitis and Optical Coherence Tomography Diagnostic Patterns: Clinical Implication from a Systematic Review
2021
Desquamative Gingivitis (DG) comprises heterogeneous clinical manifestations of numerous immune-mediated muco-cutaneous diseases. Optical Coherence Tomography (OCT) has been proposed as a valuable diagnostic support even if, to date, there are no standardized OCT-diagnostic patterns applicable to DGs. A systematic review was performed to detect existing data on in vivo OCT diagnostic patterns of the most common immune-mediated DGs (i.e., pemphigus vulgaris, mucous membrane pemphigoid and oral lichen planus). It has been found that OCT exhibits specific patterns that address the diagnosis of DG by pemphigus vulgaris (i.e., intraepithelial unilocular blister, reduced epithelial thickness, pre…
Methodological issues in a cross-sectional survey on cervical cancer screening using telephone interviews in Sicily (Italy): a SWOT analysis
2019
Objective A cross-sectional study on knowledge, perceptions, and adherence to cervical cancer screening was conducted using telephone interviews of Sicilian women that were performed in 2016. This study aimed to identify areas that need to be addressed to improve the validity of data collection and to minimize possible biases. Methods We performed a qualitative study through SWOT analysis, which is a multidimensional method based on evaluation of Strengths (S), Weaknesses (W), Opportunities (O), and Threats (T) of the research project. The contents of the SWOT forms underwent categorical, inductive, and deductive data analysis using the long table analysis method. Results The full availabil…
Specific Features of the Coagulopathy Signature in Severe COVID-19 Pneumonia
2021
Rationale: COVID-19 displays distinct characteristics that suggest a unique pathogenesis. The objective of this study was to compare biomarkers of coagulopathy and outcomes in COVID-19 and non-COVID-19 patients with severe pneumonia.Methods: Thirty-six non-COVID-19 and 27 COVID-19 non-immunocompromised patients with severe pneumonia were prospectively enrolled, most requiring intensive care. Clinical and biological characteristics (including plasma biomarkers of coagulopathy) were compared.Results: At similar baseline severity, COVID-19 patients required mechanical ventilation (MV) for significantly longer than non-COVID-19 patients (p = 0.0049) and more frequently developed venous thrombot…
Late-onset Sheehan's syndrome presenting with rhabdomyolysis and hyponatremia: a case report.
2013
Abstract Introduction Hyponatremia associated with rhabdomyolysis is a rare event and a correct diagnostic approach is required to rule out this or other diseases as a primary cause and to avoid other complications resulting from a lack of appropriate treatment. Case presentation A 64-year-old Caucasian woman presented to our facility with worsening fatigue, slurred speech, nausea and vomiting, and high serum levels of creatine kinase and myoglobin together with hyponatremia. Normal arterial blood gas analysis results, normal serum potassium levels, increased urine sodium levels, urine specific gravity of >1003N/m3 and low urine volume suggested an endocrine etiology. Her low cortisol an…
Thyroglossal duct cyst carcinoma with concurrent thyroid carcinoma: a case report
2008
Abstract Introduction Thyroglossal duct carcinoma is a very rare finding and its presentation is similar to that of a benign cyst, which is a relatively common developmental abnormality that may manifest as a midline, neck mass. In general the diagnosis of thyroglossal duct carcinoma is based on the pathologic examination of the mass, but needle aspiration cytology, ultrasound and computed tomography play a role in the differential diagnosis of malignancy. Case presentation A further case of thyroglossal duct carcinoma and concurrent thyroid carcinoma with locoregional lymph node metastases affecting a 40-year-old woman followed up for 4 years is presented and discussed. Conclusion Sistrunk…
Expanding spectrum of illness due to community-associated methicillin-resistant Staphylococcus aureus: a case report
2009
Introduction Xanthogranulomatous pyelonephritis is a rarely identified form of chronic pyelonephritis usually caused by gram-negative organisms. Herein, we report the first case caused by infection due to community-associated methicillin-resistant Staphylococcus aureus strain. Case presentation An HIV-infected female with a history of intravenous drug use presented with a three month history of abdominal pain, distension, and fever. Computerized tomography of the abdomen revealed a large multicystic right kidney mass. During surgical exploration an intrarenal abscess was identified. Cultures revealed the presence of community-associated methicillin-resistant Staphylococcus aureus. Histopath…
Combined hepatectomy and radiofrequency ablation for multifocal hepatocellular carcinoma: a case report
2009
Introduction: At the present time, the best possible choice for the local management of a multifocal hepatocellular carcinoma (HCC) developing on liver cirrhosis is multimodal treatment of the disease. Combined approach based on simultaneous radiofrequency ablation (RFA) together with limited surgical resection represents a valid choice of treatment. Case presentation: A 75-year-old white female patient affected of HCV-associated cirrhosis in BChild-Pugh’s functional class A5, developed a bifocal HCC. The patient had undergone a limited surgical resection together with simultaneous RFA, without intraoperative and postoperative surgical complications. At 36 months after surgery, still shows …
Progressive visceral leishmaniasis misdiagnosed as cirrhosis of the liver: a case report
2009
Abstract Introduction Visceral leishmaniasis is a potentially life-threatening infectious disease which is caused by parasites of the genus Leishmania and characterized in most cases by the presence of fever as well as signs and symptoms similar to those found in liver cirrhosis. Case presentation In this case report we describe the history of a 50-year-old Caucasian man incorrectly diagnosed as having hepatitis C virus-associated liver cirrhosis, with a massive weight loss of around 100 kg during the previous 2 years. However, suspecting a lymphoproliferative disorder, we were able to make a correct diagnosis of visceral leishmaniasis by bone marrow examination. After a course of therapy w…