Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 28
Filter
1.
Intern Emerg Med ; 2024 Jul 05.
Article in English | MEDLINE | ID: mdl-38967885

ABSTRACT

The COVID-19 pandemic was a major challenge for all health care employees, but it was also difficult for patients to gain access to health care services. Myxedema coma (MC) is an extremely rare but potentially fatal endocrine emergency. The aim of the study was to report an increased incidence of life-threatening myxedema coma that occurred in relation to the COVID-19 pandemic. In this paper, we report a cohort of 11 patients with MC who were treated at the University Hospital in Krakow, Poland, in the period from 2015 to 2023. Only 1 case of MC was recorded in the period from 2015 to 2019, and, in the same area, 10 cases of MC were recorded after the start of COVID-19 pandemic until present. Hypothyroidism was diagnosed de novo in 2 (18%) patients; the remaining patients were severely hypothyroid due to therapy non-compliance. Nine patients had primary hypothyroidism, and 2 had central hypothyroidism. Besides longstanding hypothyroidism, an additional precipitating factor for MC was identified in 4 (36%) of the patients. Due to the inaccessibility of parenteral levothyroxine, patients were treated with oral, mostly liquid, form of levothyroxine. The mortality rate in this cohort was 27.2%. In conclusion, the increase of the incidence of MC, which is a life-threatening complication of inadequately treated hypothyroidism, during the COVID-19 pandemic, when resources were limited, and in the post-pandemic era, underlines the importance of adequate communication with patients and of long-term availability of primary care for patients with thyroid disease.

2.
Endokrynol Pol ; 75(1): 102-108, 2024.
Article in English | MEDLINE | ID: mdl-38497396

ABSTRACT

INTRODUCTION: The number of detected pancreatic neuroendocrine tumours (PanNETs) has been increasing over the last decades. Surgical resection remains the only potentially curative treatment, but the management is still controversial. This study aimed to compare patients after radical PanNET G2 resection to determine the most important predictive factors for relapse. MATERIAL AND METHODS: All patients with histologically confirmed PanNET G2 who underwent successful surgery between 2006 and 2020 with the intention of radical treatment were enrolled. RESULTS: In total, 44 patients were eligible for the analysis. The average follow-up was 8.39 ± 4.5 years. Disease recurrence was observed in 16 (36.36%) patients. The dominant location of the primary tumour was the tail of the pancreas (43.18%), especially in the subgroup with disease recurrence (56.25%). The smallest tumour diameter associated with the PanNET G2 recurrence was 22 mm. The relationship between the largest dimension of the tumour with a division of < 4 cm vs. > 4 cm and the relapse was close to statistical significance. Recurrence was associated with a larger tumour size (p = 0.018). There was a statistically significant relationship and a weak correlation between Ki-67 (p = 0.036, V Cramer = 0.371) and disease relapse. CONCLUSION: For the group of PanNET G2 patients after radical surgery, the overall risk of recurrence was 36.36%, with the highest rate in the first 5 years after surgery, but in individual cases it occurred significantly later, even 10 years after surgery. The most important predictive factors of the PanNET G2 recurrence was Ki-67 over 5.75% and size of tumour > 4 cm.


Subject(s)
Neuroendocrine Tumors , Pancreatic Neoplasms , Humans , Ki-67 Antigen , Pancreatic Neoplasms/surgery , Pancreatic Neoplasms/pathology , Neuroendocrine Tumors/surgery , Neuroendocrine Tumors/pathology , Neoplasm Recurrence, Local , Recurrence
3.
Pol Arch Intern Med ; 134(3)2024 03 27.
Article in English | MEDLINE | ID: mdl-38164744

ABSTRACT

INTRODUCTION: Incidentaloma is an adrenal tumor detected during diagnostic imaging performed for extra­adrenal causes. Evaluation of metanephrine concentrations in a 24­hour urine collection can be a significant challenge in patients with multiple medications and comorbidities. OBJECTIVES: The aim of this study was to evaluate the effect of commonly used groups of drugs on metanephrine levels in the 24­hour urine collection. PATIENTS AND METHODS: A total of 1051 patients with adrenal mass below 10 Hounsfield units on unenhanced computed tomography were included in the study. Patients diagnosed with Cushing or Conn syndrome, adrenal carcinoma, pheochromocytoma, active extra­adrenal malignant neoplasms, and exacerbation of severe illnesses were excluded. Metanephrine, normetanephrine, and 3­methoxytyramine in the 24­hour urine collection were measured by high­performance liquid chromatography with electrochemical detection. Information on concomitant medication (ß­blockers, calcium channel blockers [CCBs], loop diuretics, thiazide diuretics, potassium­sparing diuretics, α­blockers, angiotensin­converting enzyme inhibitors / angiotensin II receptor blockers, metformin, nonmetformin antidiabetic drugs [NMADs], lipid­lowering drugs, proton pump inhibitors, levothyroxine, thyreostatics, antidepressants, neuroleptics, benzodiazepines, glucocorticosteroids, inhaled B­receptor agonists, and ipratropium) was collected from each patient. RESULTS: The urinary excretion of normetanephrine was significantly higher in the patients on ß­blockers, CCBs, loop diuretics, α­blockers, NMADs, and neuroleptics. α­Blockers increased urine metanephrine concentration, and NMADs, antidepressants, and glucocorticosteroids lowered it. There was no association between the analyzed drugs and urinary 3­methoxytyramine level. CONCLUSIONS: Many drug groups interfere with the measurement of urinary fractionated metanephrines. These interactions should be taken into account during interpretation of a hormonal evaluation, as they can be crucial for further management, especially for making a decision on surgical treatment.


Subject(s)
Adrenal Gland Neoplasms , Antipsychotic Agents , Dopamine/analogs & derivatives , Humans , Metanephrine/urine , Normetanephrine/urine , Adrenal Gland Neoplasms/surgery , Antidepressive Agents , Diuretics
4.
Pol Arch Intern Med ; 133(12)2023 12 21.
Article in English | MEDLINE | ID: mdl-37966038

ABSTRACT

INTRODUCTION: Transcatheter aortic valve implantation (TAVI) is a standard treatment for severe aortic stenosis, primarily in elderly patients. With an increasing number of procedures and younger patients, understanding the valve degeneration and its risk factors becomes crucial. OBJECTIVES: We aimed to utilize 18F­sodium fluoride (18F­NaF) and 18F­fluorodeoxyglucose (18F­FDG) positron emission tomography/computed tomography (PET/CT) to evaluate early TAVI valve degeneration. PATIENTS AND METHODS: In this prospective study with a prespecified follow­up protocol, 71 TAVI patients underwent baseline transthoracic and transesophageal echocardiography, and PET/CT with 18F­NaF and 18F­FDG. Of these, 31 patients completed 24­month control examinations, while the others were lost to mortality and the COVID­19 pandemic. We measured PET tracer activity and compared 18F­NaF and 18F­FDG PET/CT uptake at baseline and 24­month follow­up. RESULTS: PET/CT and echocardiography data were analyzed for 31 of the 71 enrolled TAVI patients at a median age of 84 years (interquartile range, 80-86). After TAVI, an improvement in the valve function was observed. During follow­up, the valve function remained stable. PET/CT demonstrated an increase in 18F­FDG maximal uptake in the inner (tissue­to­background ratio, P = 0.009) and outer (P = 0.01) sides of the TAVI valve stent, but no difference in 18F­NaF maximal activity (inner, P = 0.17; outer, P = 0.57). CONCLUSIONS: Twenty­four months post­TAVI, an increase in 18F­FDG uptake, indicative of inflammation, was observed in the valve, while the uptake of the calcification marker (18F­NaF) remained stable. Theseobservations might suggest early stages of TAVI valve degeneration, although further investigation is required to confirm this interpretation.


Subject(s)
Fluorodeoxyglucose F18 , Transcatheter Aortic Valve Replacement , Humans , Aged , Aged, 80 and over , Positron Emission Tomography Computed Tomography/methods , Aortic Valve/diagnostic imaging , Aortic Valve/surgery , Sodium Fluoride , Transcatheter Aortic Valve Replacement/adverse effects , Radiopharmaceuticals , Prospective Studies , Pandemics , Positron-Emission Tomography
6.
Endokrynol Pol ; 2023 Jul 11.
Article in English | MEDLINE | ID: mdl-37431872

ABSTRACT

INTRODUCTION: Although in most cases insulinomas are small, benign, sporadic tumours, they can also be associated with hereditary syndromes, most commonly multiple endocrine neoplasia type 1 (MEN-1). Such a diagnosis significantly affects patient management. The objective was to elucidate the clinical differences between sporadic and MEN-1-linked insulinoma. MATERIAL AND METHODS: Comparison of clinical and histopathological characteristics, types of surgery, and outcomes of patients with sporadic and MEN-1-related insulinoma diagnosed between 2015 and 2022. RESULTS: There were 17 cases of insulinomas that underwent MEN-1 genetic testing (10 women and 7 men). In 7 cases, the mutation in the menin gene was confirmed. The median age at the time of diagnosis of sporadic insulinoma related to MEN-1 was 69 years (range 29-87) and 31.5 years (16-47), respectively. Primary hyperparathyroidism (PHP) was found in 6 of 7 patients with MEN-1-related insulinoma, while in none of the patients without MEN-1 mutations. Multifocal pancreatic NETs were found in 3 patients with MEN-1 syndrome, while in all sporadic cases there was a single pancreatic tumour. Two patients with insulinoma related to MEN-1 had a positive familial history of MEN-1-related diseases, while none with sporadic form. Dissemination at diagnosis was found in 4 cases, including 3 patients with insulinoma related to MEN-1-related insulinoma. Patients with sporadic and MEN-1-related insulinoma did not differ in tumour size, Ki-67 proliferation index, and outcome. CONCLUSIONS: Of all the features evaluated, only the multifocal nature of pancreatic neuroendocrine tumour (PanNET) lesions and a positive family history differentiated between patients with sporadic and MEN-1-related insulinomas. An age of insulinoma diagnosis of less than 30 years may be a strong indicator of an increased risk of MEN-1 syndrome.

9.
J Clin Med ; 11(19)2022 Sep 21.
Article in English | MEDLINE | ID: mdl-36233401

ABSTRACT

INTRODUCTION: The genetic basis of neuroendocrine tumors (NETs), whose incidence is continuously increasing, is still not fully defined. The majority of NETs are sporadic, and only a small percentage occur as part of hereditary genetic syndromes. However, the associations of multiple genetic variants have been found as clinically relevant in several neoplasms. The aim of this study was to evaluate whether selected, literature-based genetic variants may have a potential role in NET susceptibility and clinical outcome in Polish patients. MATERIALS/METHODS: A total of 185 patients recruited from one clinical center were enrolled. In the first part of the study, the molecular analysis including four single-nucleotide variants (rs8005354 (DAD1, NM_001344 intronic T/C substitution), rs2069762 (T/G substitution in the promoter region of the IL2 NM_000586), rs3731198 (CDKN2A, NM_000077 intronic A/G substitution), and rs1800872 (C/A substitution in the promoter region of the IL10 NM_000572)) was performed in 107 participants (49 patients with NETs with different primary site NETs and a control group of 58 healthy adult volunteers). In the second stage, the same single-nucleotide polymorphisms (SNPs) were assessed in 127 patients with NET and analyzed in terms of clinical data (primary site, serum CgA concentration, and metastatic disease). RESULTS: The analysis of homozygotes revealed a statistically significant higher prevalence of TT homozygotes of variant rs3731198 in the control group (p = 0.0209). In NET patients, there was a statistically significant higher prevalence of GG homozygotes of variant rs1800872 (p = 0.003). There was a statistically significant correlation between the rs3731198 variant and lymph node metastases (p = 0.0038 with Bonferroni correction). CONCLUSIONS: Our study indicates that GG homozygotes of variant rs1800872 are more often observed in NET patients, while TT homozygotes of variant rs3731198 are less frequent in this group. The rs3731198 variant may be related to an increased risk of lymph node metastasis. Further, larger multicenter studies are warranted to evaluate the potential genetic factors of sporadic NETs.

10.
Front Endocrinol (Lausanne) ; 13: 929391, 2022.
Article in English | MEDLINE | ID: mdl-36046793

ABSTRACT

Background: Peptide receptor radionuclide therapy (PRRT) is one of the most effective therapeutic options for the treatment of metastatic, well-differentiated neuroendocrine tumors (NETs). It improves progressive disease-free survival and enables the control of hormone secretion in functioning tumors.Currently, there are no clearly established predictors of response to PRRT. The main factors hindering such a prediction are the heterogeneity of somatostatin receptor expression within and between lesions, lack of standardized parameters for functional imaging, and the use of different PRRT protocols.The main goal of our study was to quantify SUVmax changes in [68Ga]Ga-DOTA-TATE PET/CT scans as a potential predictor of long-term response to PRRT. Material and methods: Out of 20 patients treated with PRRT using [177Lu]Lu and/or [177Lu]Lu/[90Y]Y-DOTA-TATE in 2017-2019 due to dissemination of neuroendocrine neoplasm, 12 patients underwent [68Ga]Ga-DOTA-TATE PET/CT on average 3.1 months before and 4.5 months after PRRT and were eligible for the analysis.In total, 76 NET lesions were evaluated. We measured SUVmax for every lesion in both PET/CT scans (before and after PRRT). Those values were corrected by liver SUVmax and liver SUVmean measured in volumetric analysis and specified as SUVlmax and SUVlmean. As a next step, changes in SUVlmax and SUVlmean were assessed based on both PET/CT scans. Finally, results were correlated with the clinical outcome assessed as progressive disease, disease stabilization, or partial response. Results: The mean follow-up period was 19.9 months. Progressive disease, partial response, and disease stabilization were found in five, two, and five patients, respectively. Among patients with a partial response, the decrease in mean SUVlmax was 66.3% when compared to baseline. In patients with stable disease, the decrease in SUVlmax was 30.3% when compared to baseline. In patients with progressive disease, the mean increase in SUVlmax was 9.1% when compared to baseline. The changes in SUVlmean were -69,8%, -30.8%, and -3.7%, respectively. Conclusions: A decrease in the SUVmax value in NET lesions, corrected by normal liver tissue uptake assessed in [68Ga]Ga-DOTA-TATE PET/CT scans, indicates a lower risk for NET progressive disease within 20 months after PRRT and may constitute an additional and independent parameter for the estimation of overall risk for disease progression.


Subject(s)
Neuroendocrine Tumors , Heterocyclic Compounds, 1-Ring , Humans , Neuroendocrine Tumors/diagnostic imaging , Neuroendocrine Tumors/drug therapy , Neuroendocrine Tumors/radiotherapy , Positron Emission Tomography Computed Tomography , Prognosis , Radiopharmaceuticals/therapeutic use , Yttrium Radioisotopes
11.
Front Endocrinol (Lausanne) ; 13: 908967, 2022.
Article in English | MEDLINE | ID: mdl-35992110

ABSTRACT

Background: Adrenal hemorrhage is a rare, usually life-threating complication. The most common neoplasm resulting in spontaneous adrenal bleeding is pheochromocytoma and it accounts for nearly 50% of cases. Currently, the recommendations for the diagnosis and management of patients with adrenal bleeding due to pheochromocytoma are unavailable. Materials and methods: We performed a database search for all pheochromocytoma patients, diagnosed and treated from 2005 to 2021 in tertiary endocrinology center. 206 patients were identified, 183 with complete data were included in the analysis. We investigated clinicopathological characteristics, treatment and outcomes of hemorrhagic pheochromocytoma cases and characterize our approach to perioperative diagnosis and medical management. Finally our experiences and data from previously published articles concerning adrenal hemorrhage were analyzed to propose a diagnostic and therapeutic algorithm for hemorrhagic pheochromocytomas. Results: In the whole group, seven patients (4 men and 3 women) with adrenal bleeding were found, (3.8%). Median patient's age was 49 years (range: 36-78 years). The most common manifestation of adrenal bleeding was acute abdominal pain (5/7). Two patients developed shock. Hormonal assessment was performed in five patients, based on 24-hour urinary fractionated metanephrines with urinary 3-methoxytyramine. Normetanephrine was elevated in all patients, metanephrine and 3-methoxytyramine - in four cases (4/5). Most patients (6/7) had symptoms suggesting pheochromocytoma before hemorrhage - most commonly paroxysmal hypertension (4/7). One patient died, before the diagnosis of adrenal bleeding was made. Diagnostic imaging performed in six out of seven patients revealed adrenal tumor, with median largest diameter equal to 7.4 cm (range: 5-11 cm). Five patients had elective surgery, in one case an urgent surgery was performed. In all cases the diagnosis of pheochromocytoma was confirmed in postoperative histopathology or in autopsy. The perioperative survival rate was 85.7%. Conclusions: Diagnosis of pheochromocytoma should be always considered in patients with adrenal bleeding, especially with accompanying abdominal pain, hemodynamic shock and previous history of pheochromocytoma-associated symptoms. Lack of proper diagnosis of pheochromocytoma before surgery is associated with an additional perioperative risk. To improve the decision making in this life-threatening clinical situation, based on our results and literature data, we proposed a diagnostic and treatment algorithm.


Subject(s)
Adrenal Gland Neoplasms , Pheochromocytoma , Abdominal Pain , Adrenal Gland Neoplasms/complications , Adrenal Gland Neoplasms/diagnosis , Adrenal Gland Neoplasms/surgery , Adult , Aged , Algorithms , Female , Hemorrhage/diagnosis , Hemorrhage/etiology , Humans , Male , Middle Aged , Pheochromocytoma/complications , Pheochromocytoma/diagnosis , Pheochromocytoma/pathology
13.
J Clin Med ; 11(6)2022 Mar 11.
Article in English | MEDLINE | ID: mdl-35329862

ABSTRACT

BACKGROUND: Paraneoplastic neurological syndromes (PNS) affecting the CNS (central nervous system) are rare, presenting in less than 1% of all those with cancer. The pathogenesis of paraneoplastic neurological syndromes is not fully understood, but it is presumed to result from an immune attack on the underlying malignancy. The presence of different types of onconeural antibodies may occur in different tumors and can lead to different clinical manifestations, making the early detection of cancers challenging. AIM: An evaluation of [18F]FDG PET/CT in neoplastic tumor detection in patients with paraneoplastic neurological syndromes having negative or unremarkable results of conventional radiological imaging. METHODS: Among all patients diagnosed with paraneoplastic neurological syndromes in the Neurology Department in 2016-2020, 15 patients with unremarkable conventional radiological findings who underwent [18F]FDG PET/CT were included in the study. RESULTS: [18F]FDG PET/CT enabled localization of suspected malignancy in 53% (8 of 15) of PNS cases with previous unremarkable conventional radiological findings. CONCLUSION: [18F]FDG PET/CT may be considered as a useful tool for neoplastic tumor detection in patients with paraneoplastic neurological syndromes, accelerating the diagnostic process and enabling faster initiation of appropriate treatment.

14.
Front Oncol ; 11: 687925, 2021.
Article in English | MEDLINE | ID: mdl-34868906

ABSTRACT

INTRODUCTION: Neuroendocrine neoplasms including neuroendocrine tumors (NETs) are often diagnosed as primary disseminated or inoperable. In those cases, systemic extensive therapy is necessary, but radical treatment is unlikely. As described in the literature, in some selected cases, peptide receptor radionuclide therapy (PRRT) may be used as a first-line/neoadjuvant therapy that allows further successful surgery. Such treatment may enable a reduction of total tumor burden or allow a radical treatment which improves the final outcomes. AIM: This study aims to assess whether neoadjuvant PRRT could be a treatment option for patients with initially unresectable NETs. METHODS: Among the group of 114 patients treated with PRRT between the years 2005 and 2020, in 32 cases, it was the first-line therapy, mainly due to massive disease burden at the time of diagnosis. Among them, nine patients received PRRT as the first-line treatment due to the primary inoperable tumors with the intention of preoperative reduction of the tumor size in order to allow for a surgical treatment. RESULTS: Neoadjuvant PRRT enabled surgery in four out of nine (45%) patients. Finally, in two out of four cases, the goal (radical surgery) has been achieved. CONCLUSION: PRRT may be considered not only as a palliative but also as a neoadjuvant therapy in advanced, somatostatin-positive NETs that were initially inoperable.

15.
Front Endocrinol (Lausanne) ; 12: 770266, 2021.
Article in English | MEDLINE | ID: mdl-34917031

ABSTRACT

Background: Neuroendocrine neoplasms are a heterogeneous group of cancers that develop from enterochromaffin cells of the diffuse endocrine system, with an increase in incidents over the last years. Ovarian neuroendocrine tumors (NET) are rare neoplasms, comprising 0.1% of all ovarian neoplasms and less than 5% of all neuroendocrine tumors. They may arise alone (as monodermal, specialized teratoma - ovarian carcinoid) or as a part of other ovarian lesion: cystic mature or immature teratomas. Due to the rarity and limited amount of such cases reported in the literature, there is no consensus on diagnostic and therapeutic procedures in this group of patients. Materials and Methods: The group of 10 patients at the age of 19 to 77 years (mean 42.8 ± 17.9), diagnosed with unilateral NET within ovarian teratoma were analyzed. The histopathological type of tumor, progression free survival after surgical treatment and presence of hormonally active syndrome were assessed. Results: 70% (n=7) of patients was diagnosed with mature cystic teratomas containing NET component and 30% (n=3) with monodermal teratoma (strumal carcinoid). All cases of monodermal teratomas were found in women at premenopausal age. Determined Ki67 ranged from 2% to 9%. Ninety percent of lesions (n=9) stained positive for synaptophysin and chromogranin, while markers: CK20, CK7, TTF-1 and CDX2 were negative in all cases, which ruled out their metastatic nature. None of the patients presented with carcinoid syndrome. All followed-up patients remain progression-free, which confirms surgical intervention being a crucial and sufficient method of treatment. Conclusions: The prognosis and clinical behavior of NETs associated with ovarian teratomas are good with long progression-free survival.


Subject(s)
Neuroendocrine Tumors/pathology , Ovarian Neoplasms/pathology , Ovary/pathology , Teratoma/pathology , Adult , Aged , Biomarkers, Tumor/metabolism , Female , Humans , Middle Aged , Neuroendocrine Tumors/metabolism , Ovarian Neoplasms/metabolism , Ovary/metabolism , Prognosis , Teratoma/metabolism , Young Adult
16.
Medicina (Kaunas) ; 57(12)2021 Nov 23.
Article in English | MEDLINE | ID: mdl-34946232

ABSTRACT

Background and Objectives: Long-acting somatostatin analogues (SSA) (octreotide LAR and lanreotide Autogel) are recommended as first line treatment of locally advanced or metastatic well-differentiated neuroendocrine tumors (NETs) with a good expression of somatostatin receptor (SSTR). Both of these SSAs are usually administered via injections repeated every 4 weeks. The purpose of the study was to compare the route of SSA administration (injection performed by professional medical staff and self-administration of the drug) with progression-free survival. Materials and methods: 88 patients in 2019 and 96 patients in 2020 with locally advanced or metastatic well-differentiated NETs were included in the study. All patients had a good expression of SSTR type 2 and had been treated for at least 3 months with a stable dose of long-acting somatostatin analogue every 4 weeks. All of them had received training on drug self-injections from professional NET nurses at the beginning of the COVID-19 epidemic. Results: The rate of NET progression in the study group in 2020 was higher than in 2019 29.1% vs. 18.1% (28 vs. 16 cases), p = 0.081. Conclusions: The method of administration of long-acting SSA injection performed by professional medical staff vs. self-injection of the drug may significantly affect the risk of NET progression. The unequivocal confirmation of such a relationship requires further observation.


Subject(s)
Neuroendocrine Tumors , Octreotide/administration & dosage , Peptides, Cyclic/administration & dosage , Self Administration , Somatostatin/analogs & derivatives , Humans , Neuroendocrine Tumors/drug therapy , Somatostatin/administration & dosage , Treatment Outcome
18.
Genes (Basel) ; 12(4)2021 03 31.
Article in English | MEDLINE | ID: mdl-33807230

ABSTRACT

Multiple neuroendocrine neoplasia type 1 (MEN1) is a rare genetic disorder with an autosomal dominant inheritance, predisposing carriers to benign and malignant tumors. The phenotype of MEN1 syndrome varies between patients in terms of tumor localization, age of onset, and clinical aggressiveness, even between affected members within the same family. We describe a heterogenic phenotype of the MEN1 variant c.781C>T (LRG_509t1), which was previously reported only once in a family with isolated hyperparathyroidism. A heterozygous missense variant in exon 4 of the gene was identified in the sequence of the MEN1 gene, i.e., c.781C>T, leading to the amino acid change p.Leu261Phe in a three-generation family. In the screened family, 5/6 affected members had already developed hyperparathyroidism. In the index patient and two other family members, an aggressive course of pancreatic neuroendocrine tumor (insulinoma and non-functioning neuroendocrine tumors) with dissemination was diagnosed. In the index patient, late diagnosis and slow progression of the disseminated neuroendocrine tumor have been observed (24 years of follow-up). The very rare variant of MEN1, LRG_509t1 c.781C>T /p.Leu261Phe (LRG_509p1), diagnosed within a three-generation family has a heterogenic clinical presentation. Further follow-up of the family members should be carried out to confirm the spectrum and exact time of clinical presentation.


Subject(s)
Hyperparathyroidism/genetics , Multiple Endocrine Neoplasia Type 1/genetics , Mutation, Missense , Proto-Oncogene Proteins/genetics , Adult , Amino Acid Substitution , Humans , Hyperparathyroidism/complications , Middle Aged , Multiple Endocrine Neoplasia Type 1/etiology , Pedigree , Phenotype , Poland , Young Adult
20.
J Clin Med ; 10(3)2021 Jan 22.
Article in English | MEDLINE | ID: mdl-33499425

ABSTRACT

Transcatheter aortic valve implantation (TAVI) is now a well-established treatment for severe aortic stenosis. As the number of procedures and indications increase, the age of patients decreases. However, their durability and factors accelerating the process of degeneration are not well-known. The aim of the study was to verify the possibility of using [18F]F-sodium fluoride ([18F]F-NaF) and [18F]F-fluorodeoxyglucose ([18F]F-FDG) positron emission tomography/computed tomography (PET/CT) in assessing the intensity of TAVI valve degenerative processes. In 73 TAVI patients, transthoracic echocardiography (TTE) at initial (before TAVI), baseline (after TAVI), and during follow-up, as well as transesophageal echocardiography (TEE) and PET/CT, were performed using [18F]F-NaF and [18F]F-FDG at the six-month follow-up (FU) visit as a part of a two-year FU period. The morphology of TAVI valve leaflets were assessed in TEE, transvalvular gradients and effective orifice area (EOA) in TTE. Calcium scores and PET tracer activity were counted. We assessed the relationship between [18F]F-NaF and [18F]F-FDG PET/CT uptake at the 6 = month FU with selected indices e.g.,: transvalvular gradient, valve type, EOA and insufficiency grade at following time points after the TAVI procedure. We present the preliminary PET/CT ([18F]F-NaF, [18F]F-FDG) results at the six-month follow-up period as are part of an ongoing study, which will last two years FU. We enrolled 73 TAVI patients with the mean age of 82.49 ± 7.11 years. A significant decrease in transvalvular gradient and increase of effective orifice area and left ventricle ejection fraction were observed. At six months, FU valve thrombosis was diagnosed in four patients, while 7.6% of patients refused planned controls due to the COVID-19 pandemic. We noticed significant correlations between valve types, EOA and transaortic valve gradients, as well as [18F]F-NaF and [18F]F-FDG uptake in PET/CT. PET/CT imaging with the use of [18F]F-FDG and [18F]F-NaF is intended to be feasible, and it practically allows the standardized uptake value (SUV) to differentiate the area containing the TAVI leaflets from the SUV directly adjacent to the ring calcifications and the calcified native leaflets. This could become the seed for future detection and evaluation capabilities regarding the progression of even early degenerative lesions to the TAVI valve, expressed as local leaflet inflammation and microcalcifications.

SELECTION OF CITATIONS
SEARCH DETAIL
...