7 results on '"Matteo Apicella"'
Search Results
2. Pseudohypoparathyroidism: focus on cerebral and renal calcifications
- Author
-
Filomena Cetani, Federica Saponaro, Claudio Marcocci, Paolo Piaggi, Laura Mazoni, Simona Borsari, Elena Pardi, Matteo Apicella, Giovanna Mantovani, and Francesca Elli
- Subjects
Adult ,medicine.medical_specialty ,Cerebral calcification ,Adolescent ,Endocrinology, Diabetes and Metabolism ,Clinical Biochemistry ,Context (language use) ,iPPSD ,Kidney ,Biochemistry ,Gastroenterology ,Hyperphosphatemia ,Young Adult ,GNAS ,Endocrinology ,Internal medicine ,PHP1C ,medicine ,GNAS complex locus ,Chromogranins ,GTP-Binding Protein alpha Subunits, Gs ,PHP1B ,Humans ,Child ,Pseudohypoparathyroidism ,Ultrasonography ,Cerebral Cortex ,Brain Diseases ,biology ,business.industry ,Biochemistry (medical) ,PPHP ,Calcinosis ,PHP1A ,Middle Aged ,medicine.disease ,Child, Preschool ,Cohort ,Mutation ,biology.protein ,Pseudopseudohypoparathyroidism ,Kidney Diseases ,business ,Calcification - Abstract
Context Pseudohypoparathyroidism (PHP) is a group of disorders characterized by hypocalcemia, hyperphosphatemia, and elevated parathyroid hormone (PTH) levels as a result of end-organ resistance to PTH. Objective To describe a cohort of 26 patients with PHP followed in a single tertiary center. Methods Clinical, biochemical, radiological, and genetic analysis of the GNAS gene in 26 patients recruited since 2002. Results Ten patients harbored a GNAS mutation, 15 epigenetic abnormalities at the GNAS locus, and 1 did not show genetic or epigenetic abnormalities. According to clinical, biochemical, and genetic features, patients were classified as PHP1A, PHP1B, and pseudopseudohypoparathyroidism. Patients with PHP1A had an earlier diagnosis and more cases with family history, Albright hereditary osteodystrophy (AHO) features, hormonal resistance, and hypertension. Obesity was a common feature. No difference in biochemical values was present among PHP1A and PHP1B. Intracerebral calcification occurred in 72% of patients with no difference among PHP1A and PHP1B subgroups. No significant difference was observed between patients with and without intracerebral calcification for the time-weighted average values of total serum calcium, phosphate, calcium–phosphate product, and PTH fold increase. A borderline association between cerebral calcification and age at the time of diagnosis (P = .04) was found in the whole cohort of patients. No renal calcifications were found in the overall cohort. Conclusion Patients with PHP1A more frequently have AHO features as well as hypertension than patients with PHP1B. Patients with PHP presented a high rate of intracerebral calcification with no significant difference between subgroups. No increased risk of renal calcifications was also found in the entire cohort.
- Published
- 2021
3. Do Patients with Atypical Parathyroid Adenoma Need Close Follow-up?
- Author
-
Laura Mazoni, Liborio Torregrossa, Gabriele Materazzi, Fulvio Basolo, Matteo Apicella, Elena Pardi, Filomena Cetani, Claudio Marcocci, Federica Saponaro, Simona Borsari, Paolo Miccoli, and Gianluca Frustaci
- Subjects
Male ,Endocrinology, Diabetes and Metabolism ,medicine.medical_treatment ,Clinical Biochemistry ,Parathyroid hormone ,CDC73 ,Biochemistry ,Gastroenterology ,familial isolated primary hyperparathyroidism ,hyperparathyroidism jaw-tumor syndrome ,parathyroid adenoma ,parathyroid carcinoma ,primary hyperparathyroidism ,Adenoma ,Adolescent ,Adult ,Aged ,Aged, 80 and over ,Female ,Follow-Up Studies ,Humans ,Middle Aged ,Parathyroid Neoplasms ,Parathyroidectomy ,Prognosis ,Retrospective Studies ,Tumor Suppressor Proteins ,Young Adult ,Germ-Line Mutation ,0302 clinical medicine ,Endocrinology ,80 and over ,Parathyroid adenoma ,Hyperparathyroidism-Jaw Tumor Syndrome ,Parathyroid carcinoma ,030220 oncology & carcinogenesis ,medicine.symptom ,medicine.medical_specialty ,030209 endocrinology & metabolism ,Asymptomatic ,03 medical and health sciences ,Germline mutation ,Internal medicine ,medicine ,business.industry ,Biochemistry (medical) ,medicine.disease ,business ,Primary hyperparathyroidism - Abstract
ContextAtypical parathyroid adenomas (APAs) are neoplasms with uncertain malignant potential but lack unequivocal histological signs of malignancy.ObjectiveThis work aims to retrospectively evaluate the clinical and biochemical profiles of patients with APA, the outcome after parathyroidectomy (PTX), and the presence of CDC73 germline and somatic mutations.MethodsThis monocentric study was conducted on consecutive patients undergoing PTX for primary hyperparathyroidism (PHPT) between June 2000 and December 2020. Fifty-eight patients with a confirmed histopathological diagnosis of APA, and age- and sex-matched controls with parathyroid adenoma (PA) were also included.ResultsFifty-four patients had sporadic PHPT and 4 had familial isolated hyperparathyroidism (FIHP). Thirty-four patients (59%) had symptomatic disease. Serum calcium and parathyroid hormone (PTH) levels were significantly higher in symptomatic compared to asymptomatic patients (P = .048 and .008, respectively). FIHP patients were younger than their sporadic counterparts (30 ± 17 years vs 55 ± 13 years). APA patients had significantly higher serum calcium and PTH levels and lower 25-hydroxyvitamin D concentration, bone mineral density, and T score at one-third distal radius compared to those with PA. Four of 56 APA patients displayed a CDC73 germline mutation. No somatic CDC73 mutation was identified in 24 tumor specimens. The mean follow-up after surgery was 60 ± 56.4 months. All but 6 patients (90%), 5 with apparently sporadic PHPT and 1 with FIHP, were cured after surgery.ConclusionThe large majority of patients with APA, despite a moderate/severe phenotype, have a good prognosis. Germline CDC73 mutation–positive patients had a higher rate of persistent/recurrent disease. CDC73 gene alterations do not seem to have a relevant role in the tumorigenesis of sporadic APA.
- Published
- 2021
4. OR07-05 Is Urinary Calcium the Only Predictor of Nephrolithiasis in Patients with Asymptomatic Primary Hyperparathyroidism?
- Author
-
Laura Mazoni, Federica Saponaro, Matteo Apicella, Marco Scalese, Claudio Marcocci, Elena Pardi, Simona Borsari, and Filomena Cetani
- Subjects
medicine.medical_specialty ,business.industry ,Endocrinology, Diabetes and Metabolism ,Bone and Mineral Metabolism ,Urology ,medicine.disease ,Asymptomatic ,Urinary calcium ,medicine ,In patient ,medicine.symptom ,New Insights into PTH and Calcium Receptor Signaling ,business ,Primary hyperparathyroidism ,AcademicSubjects/MED00250 - Abstract
The 4th International Workshop for the management of asymptomatic PHPT included, among the criteria for parathyroidectomy, the presence of hypercalciuria (dUCa> 400 mg/day) and increased biochemical stone risk profile. The aim of the present study was to evaluate the biochemical stone risk profile in 176 consecutive patients (143 females and 33 males) with asymptomatic PHPT. We recorded clinical and biochemical data, including 24 hours urinary measurements of the following parameters: volume and pH, creatinine, calcium, magnesium, sodium, potassium, ammonium, uric acid, oxalate, citrate, phosphate, inorganic sulphate and chloride and kidney ultrasound. In our cohort dUCa> 400mg/day showed a low sensitivity and positive predictive value (PPV) for nephrolithiasis with high specificity (46.2, 32.7, 73.0% respectively), while hypercalciuria by 4 mg/kg/bw (d-UCa>4mg/kg) had a high sensibility, with low PPV and specificity (79.5, 27.7, 40.1%) Daily hypomagnesuria (d-HypoMg), but not any other urinary parameter, was an independent predictor of nephrolithiasis in the univariate (OR 2.97 CI 1.27-7.09 P=0.014) and multivariate analyses adjusting for age, sex, BMI, and eGFR (OR 3.13 CI 1.17-8.42 P=0.02). d-HypoMg was relatively lower in the regression analysis with urinary calcium in patients with nephrolithiasis compared with those without. The mean ratio between (dUCa) and (dUMg) was higher in patients with nephrolithiasis compared with those without (4.6±2.0 vs 3.3±4.1; P In patients with hypercalciuria (>400 mg/24-hour) dUMg was positively correlated with dUCa in those without nephrolithiasis (r=0.50, β=0.2, P=0.002) but not in those with nephrolithiasis (r=0.05, β= 0.014; P=0.8). In patients without hypercalciuria we found that hypomagnesuria remained a predictor of nephrolithiasis using either 400 mg/die (P=0.002, OR 5.12 (1.84-14.24) or 4 mg/kg bw (P=0.014, OR 6.24 (1.45-26.8). Moreover, the OR for nephrolithiasis improved using the combination of d-HypoMg with d-UCa>4mg/kg (OR 8.12, CI 1.92-34.18, P=0.004), but not with dUCa> 400mg/day. The current urinary calcium threshold of >400 mg/24-hour has a low sensitivity in detecting nephrolithiasis; our data suggest that sensitivity, specificity and positive predictive value could be improved including dUMg, dUCa/dUMg ratio and the combination of d-HypoMg with d-UCa>4mg/kg in the stone risk evaluation.
- Published
- 2020
5. SAT-393 Cognitive Function Evaluation in an Italian Cohort of Patients with Post-Operative Hypoparathyroidism
- Author
-
Riccardo Zucchi, Federica Saponaro, Alessandro Brancatella, Laura Mazoni, Angelo Gemignani, Elisa Lai, Claudio Marcocci, Matteo Apicella, Gaspare Alfì, Marco Laurino, Antonio Matrone, and Filomena Cetani
- Subjects
Pediatrics ,medicine.medical_specialty ,business.industry ,Endocrinology, Diabetes and Metabolism ,Bone and Mineral Metabolism ,Cognition ,Parathyroid Hormone Translational and Clinical Aspects ,medicine.disease ,Hypoparathyroidism ,Cohort ,medicine ,Post operative ,business ,AcademicSubjects/MED00250 - Abstract
Post-operative hypoparathyroidism (PoHypo) is the most common cause of hypoparathyroidism and it is the result of accidental parathyroid removal/injury during neck surgery. The lack of PTH alters calcium homeostasis and patients are at risk of renal complications, bone involvement, infections and psychiatric syndromes. Conventional therapy, that includes calcium supplements and activated vitamin D, does not restore the complete calcium homeostasis. From a neuropsychological point of view, patients complain with neurocognitive symptoms such as “brain fog”, impaired ability to focus, memory loss, depression. Poor quality of life (QoL), evaluated by non-specific questionnaires, has been demonstrated in these patients. The aim of this study is to evaluate the cognitive function by neuropsychological specific tests in patients with PoHypo and matched controls and their relationship with biochemical parameters. This is a prospective monocentric study; we enrolled outpatients who underwent total thyroidectomy for malignant cured disease, 34 with chronic (>6 months) PoHypo (mean age 50.7 ys) and 31 without PoHypo (mean age 49.9 ys). The two groups did not differ significantly in TSH; PoHypo group had a relatively controlled serum calcium adjusted for albumin (SAlbCa) levels in therapy (mean 8.8±0.1mg/dl, 4 patients with or < than 9 mg/dl) was performed in both patients groups. PoHypo patients with serum calcium levels 9mg/dl, either at the Trail-Making Test_A (scores:34.00 vs 21.05, p
- Published
- 2020
6. COVID-19 in people with diabetes: understanding the reasons for worse outcomes
- Author
-
Matteo Apicella, Laura Mazoni, Stefano Del Prato, Alberto Coppelli, Michele Mantuano, and Maria Cristina Campopiano
- Subjects
medicine.medical_specialty ,Diabetic ketoacidosis ,Endocrinology, Diabetes and Metabolism ,030209 endocrinology & metabolism ,Disease ,Type 2 diabetes ,Article ,03 medical and health sciences ,Betacoronavirus ,0302 clinical medicine ,Endocrinology ,Risk Factors ,Diabetes mellitus ,medicine ,Internal Medicine ,Diabetes Mellitus ,Humans ,030212 general & internal medicine ,COVID-19 ,Cardiovascular Diseases ,Coronavirus Infections ,Diabetes Mellitus, Type 2 ,Hyperglycemia ,Hypertension ,Obesity ,Pandemics ,Pneumonia, Viral ,Retrospective Studies ,SARS-CoV-2 ,Treatment Outcome ,Viral ,Intensive care medicine ,Type 1 diabetes ,business.industry ,Retrospective cohort study ,Pneumonia ,medicine.disease ,business ,Type 2 - Abstract
Summary Since the initial COVID-19 outbreak in China, much attention has focused on people with diabetes because of poor prognosis in those with the infection. Initial reports were mainly on people with type 2 diabetes, although recent surveys have shown that individuals with type 1 diabetes are also at risk of severe COVID-19. The reason for worse prognosis in people with diabetes is likely to be multifactorial, thus reflecting the syndromic nature of diabetes. Age, sex, ethnicity, comorbidities such as hypertension and cardiovascular disease, obesity, and a pro-inflammatory and pro-coagulative state all probably contribute to the risk of worse outcomes. Glucose-lowering agents and anti-viral treatments can modulate the risk, but limitations to their use and potential interactions with COVID-19 treatments should be carefully assessed. Finally, severe acute respiratory syndrome coronavirus 2 infection itself might represent a worsening factor for people with diabetes, as it can precipitate acute metabolic complications through direct negative effects on β-cell function. These effects on β-cell function might also cause diabetic ketoacidosis in individuals with diabetes, hyperglycaemia at hospital admission in individuals with unknown history of diabetes, and potentially new-onset diabetes.
- Published
- 2020
7. Correction to: Whole exome sequencing in familial isolated primary hyperparathyroidism
- Author
-
Matteo Apicella, Simona Borsari, Laura Mazoni, C.M. Mazzanti, Francesca Lessi, Filomena Cetani, Prospero Civita, Paolo Aretini, Federica Saponaro, Liborio Torregrossa, Ma Caligo, M. La Ferla, Elena Pardi, Claudio Marcocci, and A. Oppo
- Subjects
Pediatrics ,medicine.medical_specialty ,Endocrinology ,business.industry ,Endocrinology, Diabetes and Metabolism ,medicine ,medicine.disease ,business ,GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries) ,Author name ,Primary hyperparathyroidism ,Exome sequencing - Abstract
Unfortunately, the 13th author name has been published incorrectly in the original publication.
- Published
- 2020
Catalog
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.