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1.
ACS Appl Mater Interfaces ; 16(17): 22622-22631, 2024 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-38625091

RESUMO

The strong light-matter interaction and naturally passivated surfaces of van der Waals materials make heterojunctions of such materials ideal candidates for high-performance photodetectors. In this study, we fabricated SnS2/MoS2 van der Waals heterojunctions and investigated their photoelectric properties. Using an applied gate voltage, we can effectively alter the band arrangement and achieve a transition in type II and type I junctions. It is found that the SnS2/MoS2 van der Waals heterostructures are type II heterojunctions when the gate voltage is above -25 V. Below this gate voltage, the heterojunctions become type I. Photoelectric measurements under various wavelengths of incident light reveal enhanced sensitivity in the ultraviolet region and a broadband sensing range from 400 to 800 nm. Moreover, due to the transition from type II to type I band alignment, the measured photocurrent saturates at a specific gate voltage, and this value depends crucially on the bias voltage and light wavelength, providing a potential avenue for designing compact spectrometers.

2.
ACS Appl Mater Interfaces ; 16(7): 9495-9505, 2024 Feb 21.
Artigo em Inglês | MEDLINE | ID: mdl-38334441

RESUMO

Nanodevices based on van der Waals heterostructures have been predicted, and shown, to have unprecedented operational principles and functionalities that hold promise for highly sensitive and selective gas sensors with rapid response times and minimal power consumption. In this study, we fabricated gas sensors based on vertical MoS2/WS2 van der Waals heterostructures and investigated their gas sensing capabilities. Compared with individual MoS2 or WS2 gas sensors, the MoS2/WS2 van der Waals heterostructure gas sensors are shown to have enhanced sensitivity, faster response times, rapid recovery, and a notable selectivity, especially toward NO2. In combination with a theoretical model, we show that it is important to take into account created trapped states (flat bands) induced by the adsorption of gas molecules, which capture charges and alter the inherent built-in potential of van der Waals heterostructure gas sensors. Additionally, we note that the performance of these MoS2/WS2 heterostructure gas sensors could be further enhanced using electrical gating and mechanical strain. Our findings highlight the importance of understanding the effects of altered built-in potentials arising from gas molecule adsorption induced flat bands, thus offering a way to enhance the gas sensing performance of van der Waals heterostructure gas sensors.

3.
Metab Syndr Relat Disord ; 22(2): 85-89, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38232370

RESUMO

The metabolic profile during prolactinoma may be subject to significant changes. We aimed to describe the different metabolic aspects in patients monitored for prolactinoma and to study the correlations between the size of the prolactinoma and the metabolic parameters. We conducted a retrospective, descriptive, and analytical study of 77 cases of prolactinomas collected and monitored at the endocrinology and diabetology department of the Hedi Chaker Hospital in Sfax between 2000 and 2017. Our patients were divided into three groups according to the size of their prolactinomas. Statistical correlations were sought between tumor size and clinical and biological parameters. The mean age of our patients was 38.3 ± 14.2 years. They were divided into 51 women (66.2%) and 26 men (33.7%). Pituitary tumor syndrome was the most common circumstance of discovery in our population (62.3%). The clinical examination revealed an average waist circumference of 95.71 cm. Android fat distribution was observed in 25 women (49%) and 12 men (46.1%). A statistically significant positive correlation was objectified between waist circumference and tumor size (r = 0.29 and P = 0.019). The average body mass index was 28.08 kg/m2. Obesity was noted in 56 cases (72.7%). Glucose tolerance disorders and hypertriglyceridemia were also more evident each time prolactinoma size increased in contrast to the level of high-density lipoprotein cholesterol which decreased with adenoma size. Our study highlighted the metabolic and hormonal repercussions of prolactinomas. Metabolic syndrome was more common in patients with larger prolactinoma. These results should guide the initial assessment and therapeutic management of prolactin adenomas.


Assuntos
Adenoma , Síndrome Metabólica , Neoplasias Hipofisárias , Prolactinoma , Masculino , Humanos , Feminino , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Prolactinoma/epidemiologia , Prolactinoma/tratamento farmacológico , Prolactinoma/metabolismo , Estudos Retrospectivos , Neoplasias Hipofisárias/diagnóstico , Neoplasias Hipofisárias/epidemiologia , Neoplasias Hipofisárias/tratamento farmacológico , Obesidade/epidemiologia , Síndrome Metabólica/diagnóstico , Síndrome Metabólica/epidemiologia
4.
Nat Commun ; 15(1): 676, 2024 Jan 23.
Artigo em Inglês | MEDLINE | ID: mdl-38263315

RESUMO

Miniaturized spectrometers have great potential for use in portable optoelectronics and wearable sensors. However, current strategies for miniaturization rely on von Neumann architectures, which separate the spectral sensing, storage, and processing modules spatially, resulting in high energy consumption and limited processing speeds due to the storage-wall problem. Here, we present a miniaturized spectrometer that utilizes a single SnS2/ReSe2 van der Waals heterostructure, providing photodetection, spectrum reconstruction, spectral imaging, long-term image memory, and signal processing capabilities. Interface trap states are found to induce a gate-tunable and wavelength-dependent photogating effect and a non-volatile optoelectronic memory effect. Our approach achieves a footprint of 19 µm, a bandwidth from 400 to 800 nm, a spectral resolution of 5 nm, and a > 104 s long-term image memory. Our single-detector computational spectrometer represents a path beyond von Neumann architectures.

5.
Diabetes Metab Syndr Obes ; 16: 3547-3556, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37954887

RESUMO

Purpose: Diabetes distress (DD) refers to the negative emotions and burden of living with diabetes. Illness perceptions are among the factors that can influence self-management and psychological distress in diabetics. This study aimed to determine the prevalence and the associated factors of DD in Tunisian patients with type 2 diabetes mellitus. We also studied the relationship between DD and illness perceptions in diabetics. Patients and Methods: This was a cross-sectional study conducted among individuals with type 2 diabetes, followed up at the outpatient endocrinology unit at the Hedi Chaker University Hospital, Tunisia. DD was assessed using the Diabetes Distress Scale (DDS-17). The Brief Illness Perception Questionnaire (Brief-IPQ) was used to assess diabetes illness perceptions. Multivariate logistic regression was used to determine independent factors associated with the presence of DD. Results: A total of 103 patients were recruited. The mean age was 59.31 (±10.83) years; 54.4% were female. In total, 70.9% had DD. Using regression analysis, we demonstrated that the illness perceptions of personal control, HbA1C, absence of comorbidities, lower age at diabetes diagnosis, and socioeconomic status were significantly associated with DD. Conclusion: This study sheds light on the high prevalence of DD among patients with type 2 diabetes in Tunisia. Illness perception-focused psychological intervention would be efficacious in reducing diabetes distress in patients with type 2 diabetes mellitus.

6.
Ann Biol Clin (Paris) ; 81(4): 410-416, 2023 10 20.
Artigo em Inglês | MEDLINE | ID: mdl-37791507

RESUMO

BACKGROUND: Polycystic Ovary Syndrome (PCOS) is the most frequent endocrine disorder that affects reproductive-age women with important long-term health implications. As such, the anti-Müllerian hormone (AMH) was proposed as a helpful test to identify women with PCOS. The aim of this study was to determine an AMH cut-off value for the diagnosis of PCOS. METHODS: This was a two-year cross-sectional study including women of reproductive age, diagnosed with PCOS according to Rotterdam criteria (2003). The control group of healthy women was age-matched. AMH was performed using an electrochemiluminescence immunoassay. AMH levels were compared and evaluated with the receiver operating characteristic curve analysis. RESULTS: A total of 130 women were enrolled in this study. Of these, 65 were diagnosed with PCOS, and 65 were healthy. No significant difference was detected in body mass index between the two groups. AMH levels were significantly higher in women with PCOS (p = < 0.001). No significant difference in AMH levels was detected between PCOS phenotypes. A cut-off of 25.1 pmol/L (3.5 ng/mL) could discriminate women with PCOS from controls with a sensitivity of 74% and specificity of 72.3%. The area under the curve was 0.811 (95% CI: 0.73-0.88). CONCLUSIONS: Our study suggests that AMH had good diagnostic potential as a complement to Rotterdam criteria for PCOS diagnosis in reproductive-age women of Tunisian origin.


Assuntos
Síndrome do Ovário Policístico , Feminino , Humanos , Síndrome do Ovário Policístico/diagnóstico , Hormônio Antimülleriano , Estudos Transversais , Curva ROC
7.
Front Endocrinol (Lausanne) ; 14: 1210943, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37497347

RESUMO

Background: Papillary Thyroid Carcinoma (PTC) is the most frequent endocrine malignancy with a variety of histological presentations. Warthin-like Papillary Thyroid Carcinoma (WLPTC) is an uncommon neoplasm that is recognized as a distinct subtype of PTC in the WHO classification of thyroid tumors. In this report, we present a novel case of WLPTC in a female patient and provide an in-depth review of the available literature on its clinical, pathological, and therapeutic characteristics. Case presentation: A 27-year-old female patient was referred for neck swelling. Ultrasound showed two suspicious thyroid nodules leading to a thyroidectomy. She was diagnosed with intermediate-risk bifocal foci of classic PTC and WLPTC, arising from a background of chronic lymphocytic thyroiditis (CLT). This pT1b(m) N1b M0 malignancy was treated with adjuvant isotopic ablation and suppressive thyroxine therapy. The 1-year outcomes were favorable. Literature review: It covered articles published from 1995 to 2022, by searching PubMed and Google Scholar using specific terms. Out of 148 articles reviewed by two authors, 25 relevant articles were selected, including 13 case reports and 12 case series. The study included 150 cases of WLPTC. Data related to clinical presentation, imaging, histological features, management, and outcomes, were extracted. The mean age of diagnosis was 39 years, with a female predominance. The most common clinical presentation was neck swelling. Thyroid autoimmunity was positive in 71.6% of patients. Lymph node metastases were present in 28% of cases, with no reported distant metastases. Overall, the outcomes were favorable. Conclusion: WLPTC shares similar clinical and radiological presentations as classic PTC. The hallmark histological features of WLPTC are papillae lined with oncocytic tumor cells with papillary nuclear changes and lymphoid stroma. WLPTC is almost constantly associated with CLT. The management of WLPTC aligns with that of classic PTC with comparable stage and risk category, often resulting in favorable outcomes.


Assuntos
Carcinoma Papilar , Carcinoma , Doença de Hashimoto , Neoplasias da Glândula Tireoide , Humanos , Feminino , Adulto , Masculino , Câncer Papilífero da Tireoide/complicações , Carcinoma/patologia , Carcinoma Papilar/patologia , Neoplasias da Glândula Tireoide/diagnóstico , Neoplasias da Glândula Tireoide/cirurgia , Neoplasias da Glândula Tireoide/complicações , Doença de Hashimoto/complicações
8.
Hosp Pharm ; 58(4): 357-362, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37360199

RESUMO

Dipeptidyl peptidase-4 inhibitors (DPP-4i), or gliptins, are a widely used glucose-lowering agents. A growing amount of evidence pointed to a possible role of DPP-4i in the induction of bullous pemphigoid (BP), which is an auto-immune skin blistering disease that mainly affects the elderly. In this article we discuss a case of DPP-4i associated BP and we provide an updated review of the current knowledge regarding this emerging entity. Use of DPP-4i, particularly vildagliptin, was found to significantly increase the risk of BP. BP180 would be in the center of the aberrant immune response. DPP-4i induced BP is thought to be associated with male gender, mucosal involvement, and milder inflammatory phenotype especially in Asian population. Generally, patients may not remit fully after DPP-4i withdrawal only and require either topical or systemic glucocorticoid courses.

9.
Artigo em Inglês | MEDLINE | ID: mdl-37227189

RESUMO

Summary: A 55-year-old patient was admitted to our department for the management of a repetitive alteration of consciousness. Biological investigation results were consistent with endogenous hyperinsulinemic hypoglycemia. Insulinoma was therefore suspected. Abdominal computed tomography and endoscopic ultrasound showed no obvious pancreatic mass.Somatostatin receptor scintigraphy showed abnormal radioactive uptake in both the pancreatic tail and the uncinate process. Contrariwise, abdominal magnetic resonance imaging showed a unique lesion in the pancreas tail. The patient was then proposed for pancreatic surgery. Both intraoperative manual palpation and intraoperative ultrasonography of the pancreas showed a single corporal lesion of 1.5 cm. No lesion was found in the uncinate process. After a left pancreatectomy, the lesion was histopathologically confirmed to be a well-differentiated neuroendocrine tumor. The symptoms of the patient resolved almost immediately following the surgery. The follow-up is one and a half years to date. Learning points: The exact preoperative localization of the pancreatic mass remains the most challenging part of insulinoma diagnostic workup. The radiologist's experience is the best warrantor to a precise localization of the tumor. 111In-DTPA-octreotide uptake in the pancreatic uncinate process may be physiological and its interpretation must, therefore, be vigilant. Manual palpation along with intraoperative ultrasonography is considered as the most effective method for the localization of insulinomas during open surgery.

10.
Am J Med Sci ; 366(1): 49-56, 2023 07.
Artigo em Inglês | MEDLINE | ID: mdl-37088301

RESUMO

BACKGROUND: Classically described as a disease of childhood and adolescence, diabetes mellitus type 1 (T1DM) can occur in adulthood. Adult-onset T1DM is poorly documented and is often misdiagnosed. This study aims to describe the epidemiological aspect of T1DM with adult-onset and detail its clinical, paraclinical, and therapeutic characteristics. MATERIALS AND METHODS: A 9-year retrospective longitudinal study (2011-2019) was conducted including adult patients (age >20 years) with confirmed diabetes and at least one of the auto-antibodies (auto-Abs) to glutamic-acid-decarboxylase (GAD), to islet-tyrosine-phosphatase 2 (IA2) or islet-cell-antibodies (ICA) positive. RESULTS: A total of 166 patients were included (sex-ratio M/F: 1.34; mean age: 28.6 years [20-56 years]). At the onset, 50.6% of patients presented with diabetic ketosis and 13.3% with diabetic ketoacidosis. Cardinal symptoms of diabetes were present in 30.7% of patients only at diagnosis, while the discovery was fortuitous in 5.4% of cases. 27.7% of patients developed an additional auto-immune disease mainly autoimmune thyroid disease. The risk of developing another AUTO-IMMUNE DISEASE was highest in females (p = 0.010) and increased with age (p = 0.011). GAD-Abs, IA2-Abs, and ICA were positive in 98.2%, 13.3%, and 17.4% of cases respectively. Only GAD-Abs were found positive in 73.1%. Upon diagnosis, 75.9% of patients were treated with insulin, while 24.1% of patients were initially put on oral anti-diabetic drugs before requiring insulin within an average of 7.42 months. CONCLUSIONS: Adult-onset T1DM has a different clinical course (slower onset, less abrupt symptoms, more insidious presentation, and more prolonged progression to insulin) that has to be known. Misdiagnosis of adult-onset T1DM can have serious consequences.


Assuntos
Doenças Autoimunes , Diabetes Mellitus Tipo 1 , Diabetes Mellitus Tipo 2 , Cetoacidose Diabética , Feminino , Adolescente , Humanos , Adulto , Adulto Jovem , Diabetes Mellitus Tipo 1/epidemiologia , Estudos Retrospectivos , Estudos Longitudinais , Autoanticorpos , Insulina/uso terapêutico
11.
Clin Case Rep ; 11(2): e6962, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-36846181

RESUMO

Herein we report the intriguing case of a 42-year-old woman presenting with grade three hypertension, severe hypokalemia and primary amenorrhea, which revealed to be the complete form of 17 alphahydroxylase deficiency. We also discuss the challenging therapeutic approach as well as the outcomes and the follow-up of this patient.

12.
J Clin Med ; 11(24)2022 Dec 19.
Artigo em Inglês | MEDLINE | ID: mdl-36556141

RESUMO

Background: Non-syndromic combined pituitary hormone deficiency (CPHD) occurs due to defects in transcription factors that govern early pituitary development and the specification of hormone-producing cells. The most common mutations are in the Prophet of Pit-1 (ProP1) gene. This work aims to (1) report findings of genetic analyses of Tunisian patients with non-syndromic CPHD and (2) describe their phenotype patterns and their evolution through life. Methods: Fifteen patients from twelve unrelated families with variable clinical phenotypes were included after excluding autoimmune and acquired forms of non-syndromic CPHD. Detailed pedigree charts and auxological, hormonal, radiological, and therapeutic details were recorded. Sanger sequencing was performed, and sequences were analyzed with a specific focus on coding and splice site regions of the ProP1 gene. Retained variants were classified using several in silico pathogenicity prediction tools and the VarSome platform. Results: We identified the common p.Arg73Cys mutation in seven patients from four unrelated pedigrees. We found a novel homozygous mutation (c.340C>T) in one sporadic case. This mutation generates a truncated ProP1 protein, predicted to be non-functional, lacking the last 112 codons (p.(Gln114Ter)). We confirmed by polymerase chain reaction (PCR) the absence of large exon deletions or insertions in the remaining sporadic patients (7/8). Conclusions: We report two mutations {one newly identified [p.(Gln114Ter)] and one previously reported (p.Arg73Cys)} in five unrelated Tunisian families with non-syndromic CPHD. This work is of clinical importance as it reports the high frequency of the p.Arg73Cys mutation in Tunisian CPHD families. Our study also illuminated the involvement of novel gene(s) in the emergence of non-syndromic CPHD.

13.
J Med Internet Res ; 24(12): e41042, 2022 12 21.
Artigo em Inglês | MEDLINE | ID: mdl-36542427

RESUMO

BACKGROUND: The introduction of new medical technologies such as sensors has accelerated the process of collecting patient data for relevant clinical decisions, which has led to the introduction of a new technology known as digital biomarkers. OBJECTIVE: This study aims to assess the methodological quality and quality of evidence from meta-analyses of digital biomarker-based interventions. METHODS: This study follows the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guideline for reporting systematic reviews, including original English publications of systematic reviews reporting meta-analyses of clinical outcomes (efficacy and safety endpoints) of digital biomarker-based interventions compared with alternative interventions without digital biomarkers. Imaging or other technologies that do not measure objective physiological or behavioral data were excluded from this study. A literature search of PubMed and the Cochrane Library was conducted, limited to 2019-2020. The quality of the methodology and evidence synthesis of the meta-analyses were assessed using AMSTAR-2 (A Measurement Tool to Assess Systematic Reviews 2) and GRADE (Grading of Recommendations, Assessment, Development, and Evaluations), respectively. This study was funded by the National Research, Development and Innovation Fund of Hungary. RESULTS: A total of 25 studies with 91 reported outcomes were included in the final analysis; 1 (4%), 1 (4%), and 23 (92%) studies had high, low, and critically low methodologic quality, respectively. As many as 6 clinical outcomes (7%) had high-quality evidence and 80 outcomes (88%) had moderate-quality evidence; 5 outcomes (5%) were rated with a low level of certainty, mainly due to risk of bias (85/91, 93%), inconsistency (27/91, 30%), and imprecision (27/91, 30%). There is high-quality evidence of improvements in mortality, transplant risk, cardiac arrhythmia detection, and stroke incidence with cardiac devices, albeit with low reporting quality. High-quality reviews of pedometers reported moderate-quality evidence, including effects on physical activity and BMI. No reports with high-quality evidence and high methodological quality were found. CONCLUSIONS: Researchers in this field should consider the AMSTAR-2 criteria and GRADE to produce high-quality studies in the future. In addition, patients, clinicians, and policymakers are advised to consider the results of this study before making clinical decisions regarding digital biomarkers to be informed of the degree of certainty of the various interventions investigated in this study. The results of this study should be considered with its limitations, such as the narrow time frame. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): RR2-10.2196/28204.


Assuntos
Biomarcadores , Tecnologia , Humanos , Viés , Hungria , Revisões Sistemáticas como Assunto
14.
JMIR Mhealth Uhealth ; 10(10): e35722, 2022 10 24.
Artigo em Inglês | MEDLINE | ID: mdl-36279171

RESUMO

BACKGROUND: Sensors and digital devices have revolutionized the measurement, collection, and storage of behavioral and physiological data, leading to the new term digital biomarkers. OBJECTIVE: This study aimed to investigate the scope of clinical evidence covered by systematic reviews (SRs) of randomized controlled trials involving digital biomarkers. METHODS: This scoping review was organized using the PRISMA-ScR (Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews) guidelines. With the search limited to English publications, full-text SRs of digital biomarkers included randomized controlled trials that involved a human population and reported changes in participants' health status. PubMed and the Cochrane Library were searched with time frames limited to 2019 and 2020. The World Health Organization's classification systems for diseases (International Classification of Diseases, Eleventh Revision), health interventions (International Classification of Health Interventions), and bodily functions (International Classification of Functioning, Disability, and Health [ICF]) were used to classify populations, interventions, and outcomes, respectively. RESULTS: A total of 31 SRs met the inclusion criteria. The majority of SRs studied patients with circulatory system diseases (19/31, 61%) and respiratory system diseases (9/31, 29%). Most of the prevalent interventions focused on physical activity behavior (16/31, 52%) and conversion of cardiac rhythm (4/31, 13%). Looking after one's health (physical activity; 15/31, 48%), walking (12/31, 39%), heart rhythm functions (8/31, 26%), and mortality (7/31, 23%) were the most commonly reported outcomes. In total, 16 physiological and behavioral data groups were identified using the ICF tool, such as looking after one's health (physical activity; 14/31, 45%), walking (11/31, 36%), heart rhythm (7/31, 23%), and weight maintenance functions (7/31, 23%). Various digital devices were also studied to collect these data in the included reviews, such as smart glasses, smartwatches, smart bracelets, smart shoes, and smart socks for measuring heart functions, gait pattern functions, and temperature. A substantial number (24/31, 77%) of digital biomarkers were used as interventions. Moreover, wearables (22/31, 71%) were the most common types of digital devices. Position sensors (21/31, 68%) and heart rate sensors and pulse rate sensors (12/31, 39%) were the most prevalent types of sensors used to acquire behavioral and physiological data in the SRs. CONCLUSIONS: In recent years, the clinical evidence concerning digital biomarkers has been systematically reviewed in a wide range of study populations, interventions, digital devices, and sensor technologies, with the dominance of physical activity and cardiac monitors. We used the World Health Organization's ICF tool for classifying behavioral and physiological data, which seemed to be an applicable tool to categorize the broad scope of digital biomarkers identified in this review. To understand the clinical value of digital biomarkers, the strength and quality of the evidence on their health consequences need to be systematically evaluated.


Assuntos
Biomarcadores , Humanos , Exercício Físico , Ensaios Clínicos Controlados Aleatórios como Assunto , Tecnologia , Revisões Sistemáticas como Assunto
15.
ACS Nano ; 16(10): 17347-17355, 2022 Oct 25.
Artigo em Inglês | MEDLINE | ID: mdl-36153977

RESUMO

van der Waals heterojunctions with tunable polarity are being actively explored for more Moore and more-than-Moore device applications, as they can greatly simplify circuit design. However, inadequate control over the multifunctional operational states is still a challenge in their development. Here, we show that a vertically stacked InSe/SnS2 van der Waals heterojunction exhibits type-II band alignment, and its polarity can be tuned by an external electric field and by the wavelength and intensity of an illuminated light source. Moreover, such SnS2/InSe diodes are self-powered broadband photodetectors with good performance. The self-powered performance can be further enhanced significantly with gas adsorption, and the device can be quickly restored to the state before gas injection using a gate voltage pulse. Our results suggest a way to achieve and design multiple functions in a single device with multifield coupling of light, electrical field, gas, or other external stimulants.

16.
Front Endocrinol (Lausanne) ; 13: 999331, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36093070

RESUMO

Background and Aim: The incidence of differentiated thyroid cancer (DTC) has risen dramatically worldwide. Despite an excellent prognosis, the growing DTC survivors' community often features poor health-related quality of life (HRQoL), which challenges long-term DTC care, particularly in developing Southern Mediterranean and African countries. We aimed to assess the HRQoL and to investigate its determinants in disease-free Tunisian DTC survivors. Methods: We conducted a three-month cross-sectional study that included 266 patients diagnosed with DTC. We assessed the HRQoL in eligible participants using the short form-36 health survey, in comparison with 76 healthy controls. Results: The 86 eligible DTC survivors were predominantly female (89.5%) with an average age of 44.3 ± 12.5 years. Physical-functioning (PF), role-physical (RP), and pain domains were substantially altered compared to the reference population. Age was negatively associated with PF, RP, role-emotional (RE), and social functioning (SF). Tumor size and lymph node metastases affected general health and PF, respectively. The cancer-free survival duration was positively correlated with mental health (MH). Poor neck scar healing and persistent post-operative hypoparathyroidism significantly deteriorate MH. Pain perception was positively correlated with the radioactive iodine cumulative dose. Subclinical hyperthyroidism significantly reduced PF and RP scores. TSH suppression was negatively and strongly correlated with MH and SF scores. Conclusion: HRQoL is substantially reduced in DTC survivors compared to the normative Tunisian population. These results could be extrapolated to similar individuals in other South Mediterranean and African countries. The development of coordinated multidisciplinary aftercare interventions in this region is warranted to preserve HRQoL in DTC survivors.


Assuntos
Adenocarcinoma , Sobreviventes de Câncer , Neoplasias da Glândula Tireoide , Adulto , Estudos Transversais , Feminino , Humanos , Radioisótopos do Iodo , Masculino , Pessoa de Meia-Idade , Qualidade de Vida , Sobreviventes
17.
Int J Dev Neurosci ; 82(7): 626-638, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-35841120

RESUMO

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE; OMIM 603041) is a rare inherited metabolic disorder mostly caused by mutations in TYMP gene encoding thymidine phosphorylase (TP) protein that affects the mitochondrial nucleotide metabolism. TP, functionally active as a homodimer, is involved in the salvage pathway of pyrimidine nucleosides. MNGIE-like syndrome having an overlapping phenotype of MNGIE was also described and has been associated with mutations in POLG and RRM2B genes. In the present study, we report the molecular investigation of a consanguineous family including two patients with clinical features suggestive of MNGIE syndrome. Bioinformatics analyses were carried out in addition to mtDNA deletion screening and copy number quantification in the blood of the two patients. Whole exome sequencing and Sanger sequencing analyses revealed the segregation in the affected family a novel mutation c.1205T>A (p.L402Q) within the exon 9 of the TYMP gene. In addition, mtDNA analysis revealed the absence of mtDNA deletions and a decrease of the copy number in the blood of the two patients of the studied family. The p.Leu402Gln mutation was located in a conserved amino acid within the α/ß domain of the TP protein and several software supported its pathogenicity. In addition, and based on docking and molecular dynamic simulation analyses, results revealed that L402Q caused a conformational change in TP mutated structure and could therefore alter its flexibility and stability. These changes prevent also the formation of stable homodimer leading to non-functional protein with partial or complete loss of its catalytic activity.


Assuntos
Encefalomiopatias Mitocondriais , Timidina Fosforilase , Humanos , DNA Mitocondrial/genética , DNA Mitocondrial/metabolismo , Encefalomiopatias Mitocondriais/genética , Simulação de Acoplamento Molecular , Mutação , Timidina/metabolismo , Timidina Fosforilase/genética , Timidina Fosforilase/metabolismo , Linhagem , Masculino , Feminino
18.
Urol Case Rep ; 43: 102108, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-35600809

RESUMO

Ectopic pheochromocytomas, also called paragangliomas, are defined as catecholamine -secreting tumors, which develop outside the adrenal medulla. Pheochromocytomas of the urinary tract represent less than 1% of all paragangliomas and are most commonly located in the bladder. Nevertheless, prostatic pheochromocytoma is an extremely rare clinical entity and only a few cases have been reported in the medical literature. Herein, we report a case of ectopic pheochromocytoma arising from the prostate, revealing with hypertensive crisis occurring immediately after ejaculation.

19.
J Clin Endocrinol Metab ; 107(8): e3313-e3320, 2022 07 14.
Artigo em Inglês | MEDLINE | ID: mdl-35512251

RESUMO

CONTEXT: Ectopic acromegaly is a consequence of rare neuroendocrine tumors (NETs) that secrete GHRH. This abnormal GHRH secretion drives GH and IGF-1 excess, with a clinical presentation similar to classical pituitary acromegaly. Identifying the underlying cause for the GH hypersecretion in the setting of ectopic GHRH excess is, however, essential for proper management both of acromegaly and the NET. Owing to the rarity of NETs, the imaging characteristics of the pituitary in ectopic acromegaly have not been analyzed in depth in a large series. OBJECTIVE: Characterize pituitary magnetic resonance imaging (MRI) features at baseline and after NET treatment in patients with ectopic acromegaly. DESIGN: Multicenter, international, retrospective. SETTING: Tertiary referral pituitary centers. PATIENTS: Thirty ectopic acromegaly patients having GHRH hypersecretion. INTERVENTION: None. MAIN OUTCOME MEASURE: MRI characteristics of pituitary gland, particularly T2-weighted signal. RESULTS: In 30 patients with ectopic GHRH-induced acromegaly, we found that most patients had hyperplastic pituitaries. Hyperplasia was usually moderate but was occasionally subtle, with only small volume increases compared with normal ranges for age and sex. T2-weighted signal was hypointense in most patients, especially in those with hyperplastic pituitaries. After treatment of the NET, pituitary size diminished and T2-weighted signal tended to normalize. CONCLUSIONS: This comprehensive study of pituitary MRI characteristics in ectopic acromegaly underlines the utility of performing T2-weighted sequences in the MRI evaluation of patients with acromegaly as an additional tool that can help to establish the correct diagnosis.


Assuntos
Acromegalia , Tumores Neuroendócrinos , Acromegalia/complicações , Acromegalia/diagnóstico por imagem , Hormônio Liberador de Hormônio do Crescimento , Humanos , Imageamento por Ressonância Magnética , Tumores Neuroendócrinos/complicações , Tumores Neuroendócrinos/diagnóstico por imagem , Hipófise/patologia , Estudos Retrospectivos
20.
Pharmacoeconomics ; 40(6): 587-599, 2022 06.
Artigo em Inglês | MEDLINE | ID: mdl-35578009

RESUMO

BACKGROUND: In the Middle East and North Africa (MENA) the scarcity of local cost data is a key barrier to conducting health economic evaluations. We systematically reviewed reports of disease-related costs from MENA and analysed their transferability within the region. METHODS: We searched PubMed and included full text English papers that reported disease-related costs from the local populations of Algeria, Bahrain, Egypt, Iraq, Jordan, Saudi Arabia, Kuwait, Lebanon, Libya, Morocco, Oman, Palestine, Qatar, Syria, Tunisia, United Arab Emirates and Yemen between 1995 and 2019. Screening, study selection and data extraction were done in duplicate. Study-related variables, costing methods, all costs and their characteristics were extracted and analysed via descriptive methods. From multi-country studies of MENA employing homogenous costing methods, we estimated the ratio (cost transfer coefficient) between the relative differences in direct medical costs and macroeconomic indicators via robust regression. We predicted each cost via the estimated cost transfer formula and evaluated prediction error between true and predicted (transferred) costs. RESULTS: The search yielded 1646 records, 206 full text papers and 3525 costs from 84 diagnoses. Transferability was analysed involving 144 direct medical costs from eight multi-country studies. Adjusting the average of available foreign costs by 0.28 times the relative difference in GDP per capita provided the most accurate estimates. The correlation between true and predicted costs was 0.96; 68% of predicted costs fell in the true ± 50% range. Predictions were more accurate for costs from studies that involved the largest number of countries, for countries outside the Gulf region and for drug costs versus unit or disease costs. CONCLUSION: The estimated cost transfer formula allows the prediction of missing costs in MENA if only GDP per capita is available for adjustment to the local setting. Input costs for the formula should be collected from multiple sources and match the decision situation.


In the Middle East and North Africa (MENA) scarce local cost data hinder health economic evaluations. This systematic review summarized disease-related costs from 17 countries (Algeria, Bahrain, Egypt, Iraq, Jordan, Saudi Arabia, Kuwait, Lebanon, Libya, Morocco, Oman, Palestine, Qatar, Syria, Tunisia, United Arab Emirates and Yemen). Eight studies applied the same costing method across multiple countries. We used these data to estimate a formula for transferring costs between countries. We assumed that costs vary proportionally with gross domestic product per capita (GDP). Most accurate cost predictions were provided when relative cost differences were set to 0.28-times the relative differences in GDP per capita. The correlation between transferred and true costs was very high. Still, only 68% of transferred costs fell in the true ± 50% range. Cost estimates were more accurate if costs were transferred from multiple countries. Also, estimates were more accurate for countries outside the Gulf region and for drug costs when compared to unit- or disease costs.


Assuntos
Efeitos Psicossociais da Doença , Publicações , África do Norte , Coleta de Dados , Humanos , Oriente Médio
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