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1.
Diabetologia ; 67(4): 714-723, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38214712

RESUMO

AIMS/HYPOTHESIS: Type 1 diabetes is an autoimmune disorder that is characterised by destruction of pancreatic beta cells by autoreactive T lymphocytes. Although islet autoantibodies (AAb) are an indicator of disease progression, specific immune biomarkers that can be used as target molecules to halt development of type 1 diabetes have not been discovered. Soluble immune checkpoint molecules (sICM) play a pivotal role in counteracting excessive lymphocyte responses, but their role in type 1 diabetes is unexplored. In this longitudinal study, we measured sICM levels in AAb-positive (AAb+) children to identify molecules related to type 1 diabetes progression. METHODS: We measured the levels of 14 sICM in the sera of AAb+ children (n=57) compared to those with recent-onset type 1 diabetes (n=79) and healthy children (n=44), obtained from two cohorts. AAb+ children were followed up and divided based on their progression to type 1 diabetes (AAbP) or not (AAbNP) (if they lost islet autoimmunity and did not develop disease in subsequent years). sICM were also measured in the sample taken at the visit closest to disease onset in AAbP children. RESULTS: We found that AAb+ children had a distinct sICM profile compared with healthy children and those with recent-onset type 1 diabetes. In addition, AAb+ children who progressed to type 1 diabetes (AAbP) had higher sICM concentrations than non-progressors (AAbNP). Further, sICM levels decreased in AAbP children close to disease onset. Application of Cox regression models highlighted that high concentrations of soluble programmed cell death protein 1 (sPD-1) are associated with type 1 diabetes progression (HR 1.71; 95% CI 1.16, 2.51; p=0.007). CONCLUSIONS/INTERPRETATION: This study reveals an sICM profile that is dysregulated during the preclinical stage of type 1 diabetes, and identifies sPD-1 as a pathophysiologically-relevant molecule that is associated with disease progression, offering a potential target for early interventions in autoimmune diabetes.


Assuntos
Diabetes Mellitus Tipo 1 , Criança , Humanos , Autoanticorpos , Estudos Longitudinais , Receptor de Morte Celular Programada 1 , Progressão da Doença
2.
Diabet Med ; 41(6): e15307, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38383984

RESUMO

AIMS: While continuous glucose monitoring (CGM) and associated technologies have positive effects on metabolic control in young people with type 1 diabetes (T1D), less is known about their impact on quality of life (QoL). Here, we quantified CGM satisfaction and QoL in young people with T1D and their parents/caregivers to establish (i) the relationship between QoL and CGM satisfaction and (ii) the impact of the treatment regimen on QoL. METHODS: This was a cross-sectional study of children and adolescents with T1D on different treatment regimens (multiple daily injections, sensor-augmented pumps and automated insulin delivery). QoL was assessed with the KINDL instrument, and CGM satisfaction with the CGM-SAT questionnaire was evaluated in both youths with T1D and their parents. RESULTS: Two hundred and ten consecutively enrolled youths with T1D completed the KINDL and CGM-SAT questionnaires. The mean total KINDL score was greater than neutral in both subjects with T1D (3.99 ± 0.47) and parents (4.06 ± 0.40), and lower overall CGM-SAT scores (i.e., higher satisfaction) were significantly associated with higher QoL in all six KINDL subscales (p < 0.05). There were no differences in KINDL scores according to delivery technology or when participants were grouped according to optimal and sub-optimal glucose control. CONCLUSIONS: Higher satisfaction with recent CGMs was associated with better QoL in all dimensions. QoL was independent of both the insulin delivery technology and glycaemic control. CGM must be further disseminated. Attention on perceived satisfaction with CGM should be incorporated with the clinical practice to improve the well-being of children and adolescents with T1D and their families.


Assuntos
Automonitorização da Glicemia , Diabetes Mellitus Tipo 1 , Hipoglicemiantes , Sistemas de Infusão de Insulina , Insulina , Satisfação do Paciente , Qualidade de Vida , Humanos , Diabetes Mellitus Tipo 1/sangue , Diabetes Mellitus Tipo 1/psicologia , Diabetes Mellitus Tipo 1/tratamento farmacológico , Adolescente , Masculino , Feminino , Criança , Estudos Transversais , Insulina/uso terapêutico , Insulina/administração & dosagem , Hipoglicemiantes/uso terapêutico , Controle Glicêmico , Glicemia/metabolismo , Glicemia/análise , Inquéritos e Questionários , Pais/psicologia , Hemoglobinas Glicadas/metabolismo , Hemoglobinas Glicadas/análise , Monitoramento Contínuo da Glicose
3.
Diabet Med ; 40(9): e15099, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-37029751

RESUMO

AIM: To systematically assess the impact of commercially available hybrid closed loop (HCL) systems on psychological outcomes in youths with type 1 diabetes and their parents. METHODS: We performed a systematic review including studies published in the last 10 years. PICOS framework was used in the selection process, and evidence was assessed using the GRADE system. RESULTS: A total of 215 studies were identified after duplicate removal, and 31 studies were included in this systematic review: 20 on first-generation HCL and 11 on second-generation HCL systems. According to studies with moderate- to high-level quality of evidence, HCL systems led to better, or in some studies, unchanged psychological outcomes such as distress and burden related to diabetes management, fear of hypoglycemia, quality of life, satisfaction; instead, quality of sleep was perceived as improved, although results were not confirmed in studies using actigraphy. From semi-structured interviews, answers were more homogeneous, and participants reported a positive experience and attitude towards HCL technology, which was felt to be easy to use and apt to achieve glycemic targets. CONCLUSIONS: Evidence confirms the importance of evaluating the psychosocial needs of youths with diabetes and their families when starting HCL systems and during follow-up, and to set realistic expectations of what can be achieved along with awareness of the limitations of the systems, and educate and motivate families to overcome barriers.


Assuntos
Diabetes Mellitus Tipo 1 , Humanos , Adolescente , Diabetes Mellitus Tipo 1/tratamento farmacológico , Diabetes Mellitus Tipo 1/psicologia , Hipoglicemiantes/uso terapêutico , Qualidade de Vida , Glicemia , Insulina/uso terapêutico , Sistemas de Infusão de Insulina , Pais/psicologia , Automonitorização da Glicemia/métodos
4.
Pediatr Diabetes ; 23(1): 84-89, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-34888998

RESUMO

BACKGROUND: Glucose management indicator (GMI) is a useful metric for the clinical management of diabetic patients using continuous glucose monitoring (CGM). In adults, a marked discordance between HbA1c and GMI has been reported. To date, no studies have evaluated this discordance in children/adolescents with type 1 diabetes (T1D). METHODS: HbA1c and real-life CGM data of the 12 weeks preceding HbA1c measurement were collected from 805 children/adolescents. The absolute difference between HbA1c and GMI was calculated for both the 12-week and 4-week periods preceding HbA1c measurement and the proportion of discordant patients was defined according to specific thresholds in the entire study population and in subjects stratified by type of CGM, insulin therapy, gender, age and puberty. Regression analyses were performed with HbA1c-GMI discordance as dependent variable and patients' characteristics as independent ones. A new GMI equation for children and adolescent was derived from the linear regression analysis between mean glucose and HbA1c. RESULTS: HbA1c-GMI discordance calculated on the 12-week period was <0.1, ≥0.5 and ≥1.0 in 24.8, 33.9 and 9.2% of the subjects, respectively. No significant differences in the proportion of discordant patients were found comparing patients stratified by type of CGM, insulin therapy, gender, age and puberty. GMI-HbA1c discordance was not significantly explained by age, gender, BMI, type of CGM, insulin therapy, hemoglobin, anemia and autoimmune diseases (R2  = 0.012, p = 0.409). HbA1c-GMI discordance calculated on the 4-week period was comparable. GMI (%) equation derived for this cohort was: 3.74 + 0.022x (mean glucose in mg/dl). CONCLUSIONS: GMI could be meaningfully discordant respect to HbA1c in more than a third of children/adolescents with T1D. This discrepancy should be taken into careful consideration when the two indices are directly compared in daily clinical practice.


Assuntos
Glicemia/análise , Diabetes Mellitus Tipo 1/terapia , Hemoglobinas Glicadas/análise , Adolescente , Automonitorização da Glicemia/métodos , Automonitorização da Glicemia/estatística & dados numéricos , Criança , Pré-Escolar , Estudos de Coortes , Diabetes Mellitus Tipo 1/sangue , Diabetes Mellitus Tipo 1/epidemiologia , Feminino , Humanos , Insulina/uso terapêutico , Itália/epidemiologia , Masculino
5.
Eur J Pediatr ; 181(1): 171-187, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34232366

RESUMO

Kabuki syndrome (KS) is a well-recognized disorder characterized by postnatal growth deficiency, dysmorphic facial features, skeletal anomalies, and intellectual disability. The syndrome is caused by KMT2D gene mutations or less frequently KDM6A gene mutations or deletions. We report a systematic evaluation of KS patients from Campania region of Italy; data were also compared with literature ones. We collected data of 15 subjects (8 males and 7 females with age range 10-26 years; mean age 16.9 years) with confirmed diagnosis of KS, representing the entire cohort of patients from Campania Region. Each patient performed biochemical testing and instrumental investigation. Neuro-intellectual development, cranio-facial dysmorphisms, and multisystem involvement data were collected retrospectively. For each category, type of defects and frequency of the anomalies were analyzed. Our observation shows that KS patients from Campania region have some particular and previously underscored, neurological and immunological findings. We found high prevalence of EEG's abnormalities (43%) and MRI brain abnormalities (60%). Microcephaly resulted more common in our series (33%), if compared with major cohorts described in literature. Biochemical features of immunodeficiency and autoimmune diseases including thyroid autoimmunity, polyserositis, and vitiligo were observed with high prevalence (54.5%). Low immunoglobulins levels were a frequent finding. Lymphocyte class investigation showed significantly reduced CD8 levels in one patient.Conclusions: These data confirm great heterogeneity of clinical manifestations in KS and suggest to introduce further clinical diagnostic criteria in order to perform a correct and precocious diagnosis. What is Known • Kabuki syndrome is characterized by growth deficiency, dysmorphic facial features, skeletal anomalies, and intellectual disability • Immune dysfunction is a common finding but autoimmune diseases are rarely seen • Neurological features are common What is New • Some particular facial features could help gestalt diagnosis (hypertelorism, broad nasal bridge, micrognathia, tooth agenesis, cutaneous haemangiomas and strabismus) • Higher prevalence of autoimmune disorders than previously reported • Particular neurological features are present in this cohort (EEG and MRI brain abnormalities).


Assuntos
Anormalidades Múltiplas , Doenças Hematológicas , Doenças Vestibulares , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/epidemiologia , Anormalidades Múltiplas/genética , Adolescente , Adulto , Criança , Face/anormalidades , Feminino , Doenças Hematológicas/epidemiologia , Humanos , Masculino , Estudos Retrospectivos , Doenças Vestibulares/diagnóstico , Doenças Vestibulares/epidemiologia , Adulto Jovem
6.
Int J Behav Med ; 29(5): 638-647, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-35076861

RESUMO

BACKGROUND: Given that the widely acknowledged influence of the doctor-patient relationship on objective health parameters and treatment adherence in chronic illnesses, this study sought to explore how patients perceived the patient-doctor relationship across virtual and in-person contexts. METHODS: Parents' and patients' perceptions of doctor-patient relationship were evaluated in 610 children and adolescents (12.17 ± 4.19 years, 50.9% girls) with type 1 diabetes who visited via video-conferencing or in person during the COVID-19 pandemic. RESULTS: No differences were found between video consultations and in-person visits in terms of care satisfaction (p > .05), doctor-patient relationship-for the dimensions agreement on tasks (p = .506) and bond (p = .828)-as perceived by parents and physician empathy as perceived by patients (p = .096). Parents rated patient-doctor agreement on explicit goals of treatment higher in video consultation than in person (p = .009, d = .211). Agreement on goals (ß = - .180, p = .016) and bond with doctor (ß = - .160, p = .034) were negatively and significantly associated with HbA1c values, but only in participants who visited in person. CONCLUSIONS: Parents' care satisfaction and perceptions of doctor-patient relationship, along with patients' perceptions of physician empathy, did not substantially differ between visits carried out in person or via video consultations. Given the high risk of psychological problems described in young people with diabetes, video consultation can be considered a useful opportunity to maintain access to a healthcare provider in a challenging time, such as the COVID-19 pandemic.


Assuntos
COVID-19 , Diabetes Mellitus Tipo 1 , Adolescente , Criança , Feminino , Hemoglobinas Glicadas , Humanos , Masculino , Pandemias , Pais , Satisfação do Paciente , Relações Médico-Paciente , Encaminhamento e Consulta
9.
J Diabetes Sci Technol ; : 19322968241253285, 2024 May 28.
Artigo em Inglês | MEDLINE | ID: mdl-38804535

RESUMO

BACKGROUND: Skin reactions due to technological devices pose a significant concern in the management of type 1 diabetes (T1D). This multicentric, comparative cross-sectional study aimed to assess the psychological impact of device-related skin issues on youths with T1D and their parents. METHODS: Participants with skin reactions were matched in a 1:1 ratio with a control group. Diabetes-related emotional distress was evaluated using the Problem Areas in Diabetes-Teen version (PAID-T) for participants aged 11 to 19 years and the Problem Areas in Diabetes-Parent Revised version (PAID-PR) completed by parents. In addition, glucose control was assessed through glycated hemoglobin (HbA1c) values and continuous glucose monitoring (CGM) metrics. RESULTS: A total of 102 children and adolescents were consecutively recruited. Adolescents with skin issues had higher PAID-T scores compared to those without (79.6 ± 21.1 vs 62 ± 16.8; P = .004). Parents of youths with skin reactions also reported higher PAID-PR scores than the control group (34.0 ± 11.0 vs 26.9 ± 12.3; P = .015). No differences were observed in HbA1c levels (6.9 ± 0.8% vs 6.8 ± 0.8%, P = .555) or CGM glucose metrics between the two groups. Remarkably, 25.5% were forced to discontinue insulin pumps and/or glucose sensors (21.5% and 5.9%, respectively). CONCLUSIONS: Our study highlighted the increased emotional burden experienced by youths with T1D and their parents due to device-related skin reactions, emphasizing the need for further research and interventions in this crucial aspect of diabetes management.

10.
Artigo em Inglês | MEDLINE | ID: mdl-38994570

RESUMO

CONTEXT: The pathophysiological mechanisms underlying the natural history of glucose intolerance and its fluctuations in subjects with cystic fibrosis (CF) are still unclear. OBJECTIVE: To investigate the relationship between longitudinal changes in glucose tolerance and concomitant changes in the main parameters of insulin secretion/metabolism/action determining glucose regulation in CF subjects. METHODS: Insulin sensitivity and glucose-stimulated insulin secretion (GSIS, a biomarker of beta cell functional mass), as estimated by the Oral Glucose Sensitivity Index (OGIS) and by a sophisticated mathematical model, respectively, and insulin clearance were assessed in 127 CF subjects, aged 10-25 years, who underwent two OGTT tests over at least 1-year follow-up period. Subjects were classified a posteriori as regressors (improved glucose tolerance), stable, or progressors (worsened glucose tolerance). The interplay between beta cell compensatory action and insulin sensitivity over time was analyzed by vector plots of insulin clearance adjusted GSIS (PCadj) versus OGIS. RESULTS: OGIS decreased in progressors and stable. Insulin clearance decreased in both regressors and progressors. GSIS (beta cell functional mass) improved in regressors and worsened in progressors, whereas it did not change in stable. Vector plot analysis confirmed that glucose regulation changed differently in each group. Multinomial logistic regression analysis showed that baseline glucose tolerance and GSIS changes were the only significant predictors of the changes in glucose tolerance (p<0.02, R2Nagelkerke=0.55), whereas age, gender, z-BMI, CF genotypes, and baseline PCadj were not. CONCLUSIONS: In CF subjects, changes in beta cell functional mass are associated with favorable or detrimental changes of glucose tolerance over time.

11.
Acta Diabetol ; 61(8): 987-995, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38615127

RESUMO

AIM: Conflicting findings have been reported on whether in youths, the double diagnosis of type 1 diabetes (T1D) and celiac disease (CD) substantially impacts quality of life QoL, compared to subjects with T1D only. METHODS: In this study, 86 youths with double diagnosis and their parents were compared to 167 subjects with T1D only. QoL was assessed through the KINDL questionnaire. Anti-tissue transglutaminase antibodies and dietary interviews evaluated the degree of maintaining a gluten-free diet (GFD). RESULTS: We found that having CD in addition to T1D has little effect on overall QoL. However, analysis of the degree of maintaining GFD revealed significantly lower total QoL scores in groups with T1D + CD not strictly maintaining GFD compared to T1D only (p = 0.0014). The multivariable linear regression model confirmed the importance of maintaining GFD on QoL in subjects (p = 0.0066) and parents (p = 0.023). CONCLUSION: The coexistence of T1D and CD and the adoption of a GFD resulted in poor QoL levels, as in youth as in their parents, when difficulties implementing the GFD are present. Psychological support should consider the importance of maintaining GFD not only to prevent potential complications in the future but also to improve actual QoL in different subdomains.


Assuntos
Doença Celíaca , Diabetes Mellitus Tipo 1 , Dieta Livre de Glúten , Qualidade de Vida , Humanos , Doença Celíaca/dietoterapia , Doença Celíaca/psicologia , Diabetes Mellitus Tipo 1/psicologia , Diabetes Mellitus Tipo 1/dietoterapia , Dieta Livre de Glúten/psicologia , Masculino , Feminino , Adolescente , Criança , Inquéritos e Questionários , Estudos Transversais
12.
Diabetes Res Clin Pract ; 207: 111074, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38142746

RESUMO

AIMS: Gluten-free diets (GFD) were considered as high glycemic index and/or high content of saturated fats; this could affect keeping good metabolic control in individuals with both type 1 diabetes (T1D) and celiac disease (CD). Our objective was to analyze time in range and other continuous glucose monitoring (CGM) metrics with real-time CGM systems, in youths with T1D and CD, compared to those with T1D only. METHODS: An observational case-control study, comparing youths aged 8-18 years with T1D and CD, with people with T1D only was performed. The degree of maintaining GFD was assessed through anti-tissue transglutaminase antibodies and dietary interview, and maintaining Mediterranean diet through the KIDMED questionnaire. RESULTS: 86 youths with T1D and CD, 167 controls with T1D only, were included in the study and the two groups reported similar real-time CGM metrics. Among the first group, 29 % were not completely maintaining GFD and compared to people with T1D only they showed higher hyperglycemia rates (% time above range: 38.72 ± 20.94 vs 34.34 ± 20.94; P = 0.039). CONCLUSIONS: Individuals with T1D and CD who maintain GFD presented similar glucose metrics compared to youths with T1D only. Individuals not strictly maintaining GFD presented higher hyperglycemia rates.


Assuntos
Doença Celíaca , Diabetes Mellitus Tipo 1 , Hiperglicemia , Humanos , Adolescente , Dieta Livre de Glúten , Estudos de Casos e Controles , Glicemia , Automonitorização da Glicemia , Hiperglicemia/prevenção & controle
13.
Diabetes Care ; 47(6): 1084-1091, 2024 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-38626260

RESUMO

OBJECTIVE: To investigate glucose metrics and identify potential predictors of the achievement of glycemic outcomes in children and adolescents during their first 12 months of MiniMed 780G use. RESEARCH DESIGN AND METHODS: This multicenter, longitudinal, real-world study recruited 368 children and adolescents with type 1 diabetes (T1D) starting SmartGuard technology between June 2020 and June 2022. Ambulatory glucose profile data were collected during a 15-day run-in period (baseline), 2 weeks after automatic mode activation, and every 3 months. The influence of covariates on glycemic outcomes after 1 year of MiniMed 780G use was assessed. RESULTS: After 15 days of automatic mode use, all glucose metrics improved compared with baseline (P < 0.001), except for time below range (P = 0.113) and coefficient of variation (P = 0.330). After 1 year, time in range (TIR) remained significantly higher than at baseline (75.3% vs. 62.8%, P < 0.001). The mean glycated hemoglobin (HbA1c) over the study duration was lower than the previous year (6.9 ± 0.6% vs. 7.4 ± 0.9%, P < 0.001). Time spent in tight range (70-140 mg/dL) was 51.1%, and the glycemia risk index was 27.6. Higher TIR levels were associated with a reduced number of automatic correction boluses (P < 0.001), fewer SmartGuard exits (P = 0.021), and longer time in automatic mode (P = 0.030). Individuals with baseline HbA1c >8% showed more relevant improvement in TIR levels (from 54.3% to 72.3%). CONCLUSIONS: Our study highlights the sustained effectiveness of MiniMed 780G among youth with T1D. Findings suggest that even children and adolescents with low therapeutic engagement may benefit from SmartGuard technology.


Assuntos
Glicemia , Diabetes Mellitus Tipo 1 , Sistemas de Infusão de Insulina , Insulina , Humanos , Diabetes Mellitus Tipo 1/tratamento farmacológico , Diabetes Mellitus Tipo 1/sangue , Adolescente , Criança , Masculino , Feminino , Glicemia/análise , Glicemia/metabolismo , Insulina/administração & dosagem , Insulina/uso terapêutico , Hipoglicemiantes/uso terapêutico , Hipoglicemiantes/administração & dosagem , Estudos Longitudinais , Automonitorização da Glicemia/métodos , Hemoglobinas Glicadas/metabolismo , Hemoglobinas Glicadas/análise
14.
Diabetes Res Clin Pract ; 210: 111621, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38499182

RESUMO

AIMS: To analyze metabolic outcomes, diabetes impact and device satisfaction in children and adolescents with type 1 diabetes in Italy who used different treatment modalities for diabetes care in a real-life context. METHODS: In this multicenter, nationwide, cross-sectional study, 1464 participants were enrolled at a routine visit. The following treatment modalities were considered MDI + SMBG; MDI + CGM; Sensor Augmented Pump Therapy; predictive management of low glucose; Hybrid Closed Loop (HCL); Advanced Hybrid Closed Loop (AHCL). Health related quality of life was evaluated by the Italian version of the Diabetes Impact and Device Satisfaction Scale (DIDS) questionnaire. RESULTS: Patients treated with AID systems were more likely to have HbA1c ≤ 6.5 %, higher percentage of time with glucose levels between 70 and 180 mg/dL, lower percentage of time with glucose levels above 180 mg/dL, higher device satisfaction, and reduced impact of diabetes. All the therapeutic modalities with respect to MDI + CGM, except for MDI + SMBG, contributed to increase the device satisfaction. HCL and AHCL respect to MDI + CGM were associated with lower diabetes impact. CONCLUSION: Real-life use of automated insulin delivery systems is associated with reduced type 1 diabetes impact, increased device satisfaction, and achievement of glycemic goals.


Assuntos
Diabetes Mellitus Tipo 1 , Criança , Humanos , Adolescente , Diabetes Mellitus Tipo 1/tratamento farmacológico , Hipoglicemiantes , Qualidade de Vida , Estudos Transversais , Insulina , Glicemia/metabolismo , Automonitorização da Glicemia/métodos , Sistemas de Infusão de Insulina
15.
Front Endocrinol (Lausanne) ; 15: 1382583, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38737552

RESUMO

Prader-Willi syndrome (PWS) is a complex genetic disorder caused by three different types of molecular genetic abnormalities. The most common defect is a deletion on the paternal 15q11-q13 chromosome, which is seen in about 60% of individuals. The next most common abnormality is maternal disomy 15, found in around 35% of cases, and a defect in the imprinting center that controls the activity of certain genes on chromosome 15, seen in 1-3% of cases. Individuals with PWS typically experience issues with the hypothalamic-pituitary axis, leading to excessive hunger (hyperphagia), severe obesity, various endocrine disorders, and intellectual disability. Differences in physical and behavioral characteristics between patients with PWS due to deletion versus those with maternal disomy are discussed in literature. Patients with maternal disomy tend to have more frequent neurodevelopmental problems, such as autistic traits and behavioral issues, and generally have higher IQ levels compared to those with deletion of the critical PWS region. This has led us to review the pertinent literature to investigate the possibility of establishing connections between the genetic abnormalities and the endocrine disorders experienced by PWS patients, in order to develop more targeted diagnostic and treatment protocols. In this review, we will review the current state of clinical studies focusing on endocrine disorders in individuals with PWS patients, with a specific focus on the various genetic causes. We will look at topics such as neonatal anthropometry, thyroid issues, adrenal problems, hypogonadism, bone metabolism abnormalities, metabolic syndrome resulting from severe obesity caused by hyperphagia, deficiencies in the GH/IGF-1 axis, and the corresponding responses to treatment.


Assuntos
Estudos de Associação Genética , Síndrome de Prader-Willi , Síndrome de Prader-Willi/genética , Humanos , Doenças do Sistema Endócrino/genética , Fenótipo
16.
J Pers Med ; 13(7)2023 Jun 22.
Artigo em Inglês | MEDLINE | ID: mdl-37511644

RESUMO

In people with type 1 diabetes, Automated Insulin Delivery (AID) systems adjust insulin delivery in response to sensor glucose data and consist of three components: an insulin pump, a continuous glucose sensor, and an algorithm that determines insulin delivery. To date, all the available AID systems require users to announce carbohydrate intake and deliver meal boluses, as well as respond to system alarms. The use of AID devices both initially and over time may be influenced by a variety of psychological factors. Analysis of patient-related outcomes should be taken into account, while recruiting applicants for the systems who are motivated and have realistic expectations in order to prevent AID dropout. We report an up-to-date summary of the available measures and semi-structured interview content to assess AID expectations, acceptance, and satisfaction using the AID systems. In conclusion, we suggest, before and after starting using AID systems, performing a specific evaluation of the related psychological implications, using validated measures and semi-structured interviews, that allows diabetes care providers to tailor their education approach to the factors that concern the patient at that time; they can teach problem-solving skills and other behavioral strategies to support sustained use of the AID system.

17.
Diagnostics (Basel) ; 13(8)2023 Apr 21.
Artigo em Inglês | MEDLINE | ID: mdl-37189601

RESUMO

BACKGROUND: To evaluate corneal deformation in Maturity Onset Diabetes of the Young type 2 (MODY2), paediatric subjects were analysed using a Scheimpflug-based device. The purpose of this analysis was to find new biomarkers for MODY2 disease and to gain a better understanding of the pathogenesis of the disease. METHODS: A total of 15 patients with genetic and metabolic diagnoses of MODY2 (mean age 12.8 ± 5.66 years) and 15 age-matched healthy subjects were included. The biochemical and anthropometric data of MODY2 patients were collected from clinical records, and a complete ophthalmic check with a Pentacam HR EM-3000 Specular Microscope and Corvis ST devices was performed in both groups. RESULTS: Highest concavity (HC) deflection length, Applanation 1 (A1) deflection amplitude, and A1 deflection area showed significantly lower values in MODY2 patients compared to healthy subjects. A significant positive correlation was observed between Body Mass Index (BMI) and HC deflection area and between waist circumference (WC) and the following parameters: maximum deformation amplitude, HC deformation amplitude, and HC deflection area. The glycosylated hemoglobin level (HbA1c) showed a significant positive correlation with Applanation 2 time and HC time. CONCLUSIONS: The obtained results show, for the first time, differences regarding corneal distortion features in the MODY2 population compared with healthy eyes.

18.
Diabetes Technol Ther ; 25(6): 404-413, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-36763343

RESUMO

Background: The aim of this multicenter observational real-world study was to investigate glycemic outcomes in children and adolescents with type 1 diabetes over the first 6-month use of MiniMed™ 780G. The secondary objective was to evaluate demographic and clinical factors that may be significantly associated with the achievement of therapeutic goals. Methods: Demographic, anamnestic, and clinical data of study participants were collected at the time of enrollment. Data on ambulatory glucose profile were acquired at 3 and 6 months after activating automatic mode. Aggregated glucose metrics and device settings of the entire study period were analyzed to identify predictors of optimal glycemic control, assessed by the concomitant achievement of time in range (TIR) >70%, coefficient of variation (CV) <36%, glucose management indicator (GMI) <7%, and time below range (TBR) <4%. Results: Our study cohort consisted of 111 children and adolescents (54.1% female) aged 7-18 years. All the most relevant clinical targets were achieved according to recommendations from the International Consensus both at 3 and 6 months. When considering aggregated data, primary goals in terms of TIR, CV, GMI, and TBR were achieved, respectively, by 72.1%, 74.8%, 68.5%, and 74.8% of participants. In addition, 44 individuals (39.6%) concomitantly addressed all the above clinical targets. Regression analysis revealed that older age, briefer duration of disease, and shorter active insulin time were significant predictors of optimal glucose control. Comparing two groups of individuals stratified according to the glycated hemoglobin (HbA1c) mean value in the year preceding MiniMed 780G use, achieving glycemic targets was observed in the subgroup with lower HbA1c. Conclusions: Our study highlights the effectiveness and safety of MiniMed 780G in the pediatric population. More extensive and personalized training on advanced hybrid closed-loop use should be considered for younger people and those with long disease duration.


Assuntos
Diabetes Mellitus Tipo 1 , Criança , Humanos , Adolescente , Feminino , Masculino , Diabetes Mellitus Tipo 1/tratamento farmacológico , Glicemia , Hemoglobinas Glicadas , Benchmarking , Glucose , Automonitorização da Glicemia , Insulina/uso terapêutico , Hipoglicemiantes/uso terapêutico , Sistemas de Infusão de Insulina
19.
Ital J Pediatr ; 49(1): 158, 2023 Nov 30.
Artigo em Inglês | MEDLINE | ID: mdl-38037112

RESUMO

BACKGROUND: Individuals with thiamine-responsive megaloblastic anemia (TRMA) mainly manifest macrocytic anemia, sensorineural deafness, ocular complications, and nonautoimmune diabetes. Macrocytic anemia and diabetes may be responsive to high-dosage thiamine treatment, in contrast to sensorineural deafness. Little is known about the efficacy of thiamine treatment on ocular manifestations. CASES PRESENTATION: Our objective is to report data from four Italian TRMA patients: in Cases 1, 2 and 3, the diagnosis of TRMA was made at 9, 14 and 27 months. In 3 out of 4 subjects, thiamine therapy allowed both normalization of hyperglycemia, with consequent insulin suspension, and macrocytic anemia. In all Cases, thiamine therapy did not resolve the clinical manifestation of deafness. In Cases 2 and 3, follow-up showed no blindness, unlike Case 4, in which treatment was started for megaloblastic anemia at age 7 but was increased to high doses only at age 25, when the genetic diagnosis of TRMA was performed. CONCLUSIONS: Early institution of high-dose thiamine supplementation seems to prevent the development of retinal changes and optic atrophy in TRMA patients. The spectrum of clinical manifestations is broad, and it is important to describe known Cases to gain a better understanding of this rare disease.


Assuntos
Anemia Megaloblástica , Surdez , Diabetes Mellitus , Perda Auditiva Neurossensorial , Humanos , Criança , Adulto , Diabetes Mellitus/diagnóstico , Diabetes Mellitus/tratamento farmacológico , Diabetes Mellitus/genética , Perda Auditiva Neurossensorial/diagnóstico , Perda Auditiva Neurossensorial/tratamento farmacológico , Perda Auditiva Neurossensorial/genética , Tiamina/uso terapêutico , Anemia Megaloblástica/diagnóstico , Anemia Megaloblástica/tratamento farmacológico , Diagnóstico Precoce , Surdez/complicações , Surdez/tratamento farmacológico
20.
Diabetes Technol Ther ; 25(7): 507-512, 2023 07.
Artigo em Inglês | MEDLINE | ID: mdl-37155332

RESUMO

Glycemia risk index (GRI) is a novel composite metric for the evaluation of the safety of glycemic management and control. The aim of this study was to evaluate GRI and its correlations with continuous glucose monitoring (CGM) metrics by analyzing real-life CGM data in 1067 children/adolescents with type 1 diabetes (T1D) using four different treatment strategies (intermittently scanned CGM [isCGM]-multiple daily injections [MDIs]; real-time CGM-MDIs; rtCGM-insulin pump; hybrid closed-loop [HCL] therapy). GRI was positively correlated with high blood glucose index, low blood glucose index, mean glycemia, its standard deviation, coefficient of variation, and HbA1c. The four treatment strategy groups showed significantly different GRI with the lowest value in the HCL group (30.8) and the highest in the isCGM-MDIs group (68.4). These findings support the use of GRI for the assessment of the glycemic risk and the safety of specific treatment in pediatric subjects with T1D.


Assuntos
Diabetes Mellitus Tipo 1 , Criança , Humanos , Adolescente , Diabetes Mellitus Tipo 1/tratamento farmacológico , Glicemia , Hipoglicemiantes/efeitos adversos , Estudos de Coortes , Automonitorização da Glicemia , Controle Glicêmico , Insulina
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