Search results for "overgrowth"
showing 10 items of 16 documents
2019
PIK3CA-related overgrowth spectrum (PROS) encompasses a range of debilitating conditions defined by asymmetric overgrowth caused by mosaic activating PIK3CA variants. PIK3CA encodes the p110α catalytic subunit of phosphatidylinositol-3-kinase (PI3K), a critical transducer of growth factor signaling. As mTOR mediates the growth-promoting actions of PI3K, we hypothesized that the mTOR inhibitor sirolimus would slow pathological overgrowth. Thirty-nine participants with PROS and progressive overgrowth were enrolled into open-label studies across three centers, and results were pooled. For the primary outcome, tissue volumes at affected and unaffected sites were measured by dual energy X-ray ab…
Cyclosporin- and nifedipine-induced gingival overgrowth in renal transplant patients: correlations with periodontal and pharmacological parameters, a…
1996
The factors associated with cyclosporin A (CsA)- and nifedipine (Nif)-induced gingival overgrowth were investigated in 113 renal transplant recipients receiving CsA alone (Group 1) [n = 61], CsA and Nif (Group 2) [n = 28], or azathioprine (Aza) (Control Group) [n = 24]. Periodontal and pharmacological parameters were assessed for each patient. The patients with a gingival overgrowth index (GOI) score1 were considered responders (R); those with a score/= 1 were non-responders (NR). Gingival overgrowth occurred in 33.7% of the patients in Groups 1 and 2; 60% of the responders were receiving CsA+Nif. In R, no relationship was found between the GOI and the periodontal and pharmacological parame…
Small intestine bacterial overgrowth and irritable bowel syndrome-related symptoms: Experience with Rifaximin
2009
AIM: To estimate the prevalence of small intestinal bacterial overgrowth (SIBO) in our geographical area (Western Sicily, Italy) by means of an observational study, and to gather information on the use of locally active, non-absorbable antibiotics for treatment of SIBO. METHODS: Our survey included 115 patients fulfilling the Rome II criteria for diagnosis of irritable bowel syndrome (IBS); a total of 97 patients accepted to perform a breath test with lactulose (BTLact), and those who had a positive test, received Rifaximin (Normix®, Alfa Wassermann) 1200 mg/d for 7 d; 3 wk after the end of treatment, the BTLact was repeated. RESULTS: Based on the BTLact results, SIBO was present in about 5…
Wilms' tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas
2012
Nephroblastoma (Wilms' tumor; WT) is the most common renal tumor of childhood. To date, several genetic abnormalities predisposing to WT have been identified in rare overgrowth syndromes. Among them, abnormal methylation of the 11p15 region, GPC3 and DIS3L2 mutations, which are responsible for Beckwith-Wiedemann, Simpson-Golabi-Behmel and Perlman syndromes, respectively. However, the underlying cause of WT remains unknown in the majority of cases. We report three unrelated patients who presented with WT in addition to a constitutional 9q22.3 microdeletion and dysmorphic/overgrowth syndrome. The size of the deletions was variable (ie, from 1.7 to 8.9 Mb) but invariably encompassed the PTCH1 …
Obstructive sleep apnoea in adult patients post-tonsillectomy
2021
Background: The impact of removing the upper airway lymphoid tissue and in particular, tonsillectomy, in adults with OSA has not been demonstrated in large populations. Aims: To compare the severity of OSA and the prevalence of cardiovascular, metabolic and respiratory co-morbidities between patients with OSA who had undergone previous tonsillectomy and those who had not. Methods: The 19,711 participants in this study came from the European sleep apnea database (ESADA) which comprises data from unselected adult patients aged 18–80 years with a history of symptoms suggestive of OSA referred to sleep centers throughout Europe. Results: There were no differences between the two groups in terms…
Lymphoproliferative disorders in Sotos syndrome: Observation of two cases
1996
Sotos syndrome is included among the overgrowth disorders, most of which have an increased risk of neoplasms. Sotos syndrome does not appear to be related to a specific tumor type, but rather to the development of solid tumors of ectodermal or mesodermal origin in general. We report on two Sotos syndrome patients who developed a non-Hodgkin lymphoma and an acute lymphoblastic leukaemia, respectively. Our experience suggests that there may exist a high frequency of lymphoproliferative disorders in Sotos syndrome, and points out the importance of a long-term follow-up of Sotos syndrome patients, to detect a possible neoplastic evolution. ©1996 Wiley-Liss, Inc.
Hydrogen- and Methane-Based Breath Testing and Outcomes in Patients With Heart Failure
2019
Background: Recent evidence endorses gut microbiota dysregulation in the pathophysiology of heart failure (HF). Small intestinal bacterial overgrowth (SIBO) might be present in HF and associated with poor clinical outcomes. Lactulose breath testing is a simple noninvasive test that has been advocated as a reliable indicator of SIBO. In patients with HF, we aimed to evaluate the association with clinical outcomes of the exhaled hydrogen (H-2) and methane (CH4) concentrations through the lactulose breath test. Methods and Results: We included 102 patients with HF in which lactulose SIBO breath tests were assessed. Cumulative gas was quantified by the area under the receiver operating characte…
Abnormal expansion of segmented filamentous bacteria in the gut
2011
Human intestinal microbiota create a complex polymicrobial ecology characterized by high population density, wide diversity, and complexity of interactions. Any imbalance of this complex intestinal microbiome, both qualitative and quantitative, might have serious health consequences including an increase in the number and/or alteration in the type of bacteria in the upper gastrointestinal tract, which is referred to as small intestinal bacterial overgrowth (SIBO) syndrome. SIBO is frequently found in persons fulfilling criteria for irritable bowel syndrome (IBS), and the large overlapping of symptoms of these two pathological conditions led some authors to believe that IBS is secondary to S…
The child with overgrowth between clinical variability and genetic heterogeneity
2020
Either in the newborn or in the child overgrowth can be generalized or localized if it is limited to one or more body regions. When overgrowth depends on a metabolic imbalance, or it is constitutional, the excessive growth can be the only clinical sign. In most cases genomic or epigenetic alterations, which affect factors involved in cell proliferation and/or regulation of gene expression (observed also in tumours), are related to overgrowth syndromes, in which excess growth may be associated with dysmorphic features, neuromotor/intellectual disabilities and behavioural disorders. These rare conditions are characterized by clinical and molecular overlap. The paper describes the cases of thr…