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The study was carried out to determine the psychosocial outcomes of advanced hybrid closed-loop (AHCL) systems in children and adolescents with type 1 diabetes (T1D). Single-center and cohort study with a duration 6 months consisted of 60 children and adolescents with T1D. Standard clinical procedures, including both glycemic indicators, e.g., sensor-measured time within the 70-180 mg/dL range and glycated hemoglobin (HbA1c) levels, and psychosocial metrics were used for data collection. The psychosocial metrics included the Pediatric Quality of Life Inventory (PedsQL) 3.0 Diabetes Module for both children (8-12 years) and parents; the Quality of Life for Youth scale for adolescents (13-18 years); the Strengths and Difficulties Questionnaire (SDQ); the Hypoglycemia Fear Survey for Children (HFS-C); the Revised Child Anxiety and Depression Scale (R-CADS); and AHCLS-specific DTSEQ satisfaction and expectation survey. These metrics were evaluated at the baseline and after 6 months of AHCL use. Of the 60 children and adolescents with T1D for whom the AHCL system was utilized, 41 of them, 23 female and 18 male, completed the surveys. The mean age of the 41 children and adolescents was 12.5 ± 3.2 (min. 6.7, max. 18) years. The time spent within the target glycemic range, i.e., time-in-range (TIR), improved from 76.9 ± 9% at the baseline to 80.4 ± 5% after 6 months of AHCL system use (p = 0.03). Additionally, HbA1c levels reduced from 7.1% ± 0.7% at the baseline to 6.8% ± 0.8% after 6 months of AHCL system use (p = 0.03). The most notable decline in HbA1c was observed in participants with higher baseline HbA1c levels. All patients' HFS-C and AHCL system-specific DTSEQ satisfaction and expectation survey scores were within the normal range at the baseline and remained unchanged during the follow-up period. No significant difference was found in the R-CADS scores of children and adolescents between baseline and after 6 months of AHCL system use. However, there was a significant decrease in the R-CADS scores of the parents. Patients' PedsQL scores were high both at the baseline and after 6 months. The SDQ scores were high at baseline, and there was no significant improvement at the end of 6 months. Conclusion: This is the first study to investigate in detail the psychosocial outcomes of AHCL system use in T1D patients and their parents. Although state-of-the-art technologies such as AHCL provide patients with more flexibility in their daily lives and information about glucose fluctuations, the AHCL resulted in a TIR above the recommended target range without a change in QOL, HFS-C, SDQ, and R-CADS scores. The scores obtained from the R-CADS conducted by the parents of the children indicated that the use of pumps caused a psychological improvement in the long term, with a significant decrease in the R-CADS scores of the children and adolescents with T1D. What is Known: ⢠Previous studies focused on clinical outcomes of AHCL systems in pediatric T1D patients, showing glycemic control improvements. ⢠Limited attention given to psychosocial outcomes of AHCL systems in children and adolescents with T1D. ⢠Crucial psychosocial factors like quality of life, emotional well-being, and fear of hypoglycemia underexplored in AHCL system context. What is New: ⢠First study to comprehensively examine psychosocial outcomes of AHCL systems in pediatric T1D patients. ⢠Study's robust methodology sets new standard for diabetes technology research and its impact on qualiy of life.
Assuntos
Automonitorização da Glicemia , Diabetes Mellitus Tipo 1 , Sistemas de Infusão de Insulina , Insulina , Qualidade de Vida , Humanos , Diabetes Mellitus Tipo 1/psicologia , Diabetes Mellitus Tipo 1/sangue , Diabetes Mellitus Tipo 1/terapia , Criança , Masculino , Adolescente , Feminino , Sistemas de Infusão de Insulina/psicologia , Insulina/administração & dosagem , Automonitorização da Glicemia/psicologia , Automonitorização da Glicemia/métodos , Hipoglicemiantes/administração & dosagem , Hipoglicemiantes/uso terapêutico , Inquéritos e Questionários , Hipoglicemia/psicologia , Estudos de Coortes , Glicemia/análise , Resultado do Tratamento , Hemoglobinas Glicadas/análiseRESUMO
PURPOSE: Alström Syndrome (AS) is a rare autosomal recessive monogenic ciliopathy which is caused by a mutation of the Alström syndrome 1 (ALMS1) gene. It is a multisystemic disorder characterized by insulin resistance, childhood obesity, cardiomyopathy, progressive hepatic and renal failure, sensorineural hearing loss and retinal degeneration. Herein, we aimed to report a novel variant in ALMS1 gene causing AS in a patient presenting with visual impairment. METHODS: Case report. RESULTS: A 10-year-old male patient presented with photophobia and visual impairment in both eyes. Anterior and posterior segment examinations were unremarkable bilaterally. Optical coherence tomography (OCT) showed attenuated ellipsoid zone. Electroretinography revealed diminished cone and rod responses consistent with cone rod dystrophy (CRD). Genetic testing demonstrated a novel homozygous variant in ALMS1 (NM_015120.4) gene. The patient also was found to have early-stage dilated cardiomyopathy through systemic evaluation after the diagnosis of AS. CONCLUSION: Cone-rod dystrophy in pediatric population is relatively rare condition that can be associated with syndromic ciliopathies. The authors presented a case of AS with a novel variant in ALMS1 gene based on ophthalmic findings. Ophthalmologists play an important role in the diagnosis of this syndrome and early detection of systemic manifestations.
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OBJECTIVE: We evaluate the energy and nutrient intake of children, adolescents, and young adults with type 1 diabetes (T1D) who started to use automated insulin delivery (AID) systems before the transition and during follow-up for 6 months in a real-world setting. RESEARCH DESIGN AND METHODS: Twenty-nine people with T1D (PwD) who started to use MiniMed 780GTM participated in the study. Participants' 3-day food diaries and glycemic outcomes were analyzed at baseline and after (the 3rd and 6th month) switching to an advanced hybrid closed-loop system (a-HCL). RESULTS: Mean carbohydrate, protein, and fat intake (energy %) at baseline were 49.1 ± 4.5, 17.8 ± 2.3, and 33.0 ± 3.9, respectively, and there were no statistically significant differences during the follow-up period. However, low fiber (<14 g/1000 kcal) and high saturated fat (>10 energy %) intake in PwD, both baseline and follow-up period. The median auto-correction bolus ratio was 14.0 (9.5)% at auto mode after 14 days, 18.0 (11.0)% at the 3rd month, and 19.0 (7.5)% at the 6th month (p < 0.05). A negative correlation was present between auto-correction boluses with TIR in both the 3rd (r:-0.747, p < 0.01) and 6th month (r:-0.395, p < 0.05). A negative correlation was present between auto-correction boluses with TIR in both the 3rd (r:-0.747, p < 0.01) and 6th month (r:-0.395, p < 0.05). CONCLUSIONS: a-HCLS systems offer better glycemic control. Using the Minimed 780 GTM insulin pump system didn't change the energy and nutrient intake of PwD. This real-world follow-up study suggests that children, adolescents, and young adults with T1D consume saturated fat above and fiber intake lower than recommendations independent of the use of a-HCLS. CLINICAL TRIALS REGISTRATION NUMBER: NCT05666596.
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Diabetes Mellitus Tipo 1 , Ingestão de Energia , Sistemas de Infusão de Insulina , Insulina , Humanos , Diabetes Mellitus Tipo 1/tratamento farmacológico , Adolescente , Feminino , Masculino , Seguimentos , Criança , Adulto Jovem , Insulina/administração & dosagem , Adulto , Glicemia/análise , Glicemia/efeitos dos fármacos , Hipoglicemiantes/administração & dosagem , Registros de Dieta , Nutrientes/administração & dosagemRESUMO
OBJECTIVES: Osteogenesis imperfecta (OI) is a group of phenotypically and genetically heterogeneous connective tissue disorders that share similar skeletal anomalies causing bone fragility and deformation. This study aimed to investigate the molecular genetic etiology and to determine the relationship between genotype and phenotype in OI patients with whole exome sequencing (WES). METHODS: Multiplex-Ligation dependent Probe Amplification (MLPA) analysis of COL1A1 and COL1A2 and WES were performed on cases between the ages of 0 and 18 whose genetic etiology could not be determined before using a targeted next-generation sequencing panel, including 13 genes (COL1A1, COL1A2, IFITM5, SERPINF1, CRTAP, P3H1, PPIB, SERPINH1, FKBP10, SP7, BMP1, MBTPS2, PLOD2) responsible for OI. RESULTS: Twelve patients (female/male: 4/8) from 10 different families were included in the study. In 6 (50â¯%) families, consanguineous marriage was noted. The clinical typing based on Sillence classification; 3 (25â¯%) patients were considered to be type I, 7 (58.3â¯%) type III, and 2 (16.7â¯%) type IV. Deletion/duplication wasn't detected in the COL1A1 and COL1A2 genes in the MLPA analysis of the patients. Twelve patients were molecularly analyzed by WES, and in 6 (50â¯%) of them, a disease-causing variant in three different genes (FKBP10, P3H1, and WNT1) was identified. Two (33.3â¯%) detected variants in all genes have not been previously reported in the literature and were considered deleterious based on prediction tools. In 6 cases, no variants were detected in disease-causing genes. CONCLUSIONS: This study demonstrates rare OI types' clinical and molecular features; genetic etiology was determined in 6 (50â¯%) 12 patients with the WES analysis. In addition, two variants in OI genes have been identified, contributing to the literature.
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Sequenciamento do Exoma , Osteogênese Imperfeita , Humanos , Osteogênese Imperfeita/genética , Osteogênese Imperfeita/diagnóstico , Masculino , Feminino , Criança , Pré-Escolar , Lactente , Adolescente , Fenótipo , Colágeno Tipo I/genética , Cadeia alfa 1 do Colágeno Tipo I , Mutação , Recém-Nascido , Prognóstico , SeguimentosRESUMO
Introduction: Osteogenesis imperfecta (OI) is a group of phenotypically and genetically heterogeneous connective tissue disorders that share similar skeletal anomalies causing bone fragility and deformation. This study aimed to investigate the molecular genetic etiology and determine the relationship between genotype and phenotype in OI patients with targeted next-generation sequencing (NGS). Method: In patients with OI, a targeted NGS analysis panel (Illumina TruSight One) containing genes involved in collagen/bone synthesis was performed on the Illumina Nextseq550 platform. Results: Fifty-six patients (female/male: 25/31) from 46 different families were enrolled in the study. Consanguinity between parents was noted in 15 (32.6%) families. Clinically according to Sillence classification; 18(33.1%) patients were considered to type I, 1(1.7%) type II, 26(46.4%) type III and 11(19.6%) type IV. Median body weight was -1.1 (-6.8, - 2.5) SDS, and height was -2.3 (-7.6, - 1.2) SDS. Bone deformity was detected in 30 (53.5%) of the patients, while 31 (55.4%) were evaluated as mobile. Thirty-six (60.7%) patients had blue sclera, 13 (23.2%) had scoliosis, 12 (21.4%) had dentinogenesis imperfecta (DI), and 2 (3.6%) had hearing loss. Disease-causing variants in COL1A1 and COL1A2 genes were found in 24 (52.1%) and 6 (13%) families, respectively. In 8 (17.3%) of the remaining 16 (34.7%) families, the NGS panel revealed disease-causing variants in three different genes (FKBP10, SERPINF1, and P3H1). Nine (23.6%) of the variants detected in all investigated genes were not previously reported in the literature and were classified to be pathogenic according to ACMG guidelines pathogenity scores. In ten (21.7%) families, a disease-related variant was not found in a total of 13 OI genes included in the panel. Conclusion: Genetic etiology was found in 38 (82.6%) of 46 families by targeted NGS analysis. In addition, 9 new variants were assessed in known OI genes which is a significant contribution to the literature.
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Introduction: Craniopharyngiomas (CPG) have complex challenges in treatment due to their proximity to vital structures, surgical and radiotherapeutic complexities, and the tendency for recurrence. This study aims to identify the prevalence of endocrine and metabolic comorbidities observed during initial diagnosis and long-term follow-up in a nationwide cohort of pediatric CPG patients. The study also highlights the associated difficulties in their management. Methods: Sixteen centers entered 152 patients into the ÇEDD NET data system. We evaluated the clinical and laboratory characteristics at presentation, administered treatments, accompanying endocrine, metabolic, and other system involvements, and the patient's follow-up features. Results: Of the evaluated patients, 64 were female, and 88 were male. At presentation, the mean age was 9.1 ± 3.67 (min:1.46-max:16.92) years. The most common complaints at presentation were headache (68.4%), vision problems (42%), short stature (15%), nausea and vomiting (7%). The surgical procedure applied to the patients was gross total resection (GTR) in 97 cases (63.8%) and subtotal resection in 55 cases (36.2%). Radiotherapy was initiated in 11.8% of the patients. In the pathological examination, 92% of the cases were adamantinamatous type, 8% were papillary type. Postoperatively, hormone deficiencies consisted of thyroid-stimulating hormone (92.1%), adrenocorticotropic hormone (81%), antidiuretic hormone (79%), growth hormone (65.1%), and gonadotropin (43.4%) deficiencies. Recombinant growth hormone treatment (rhGH) was initiated on 27 patients. The study showed hesitancy among physicians regarding rhGH. The median survival without relapse was 2.2 years. Median time of relapse was 1.82 years (range: 0.13-10.35 years). Relapse was related to longer follow-ups and reduced GTR rates. The median follow-up time was 3.13 years. Among the last follow-up visits, the prevalence of obesity was 38%, but of these, 46.5% were already obese at diagnosis. However, 20% who were not obese at baseline became obese on follow-up. Permanent visual impairment was observed in 26 patients, neurological deficits in 13 patients, and diabetes mellitus in 5 patients. Conclusion: Recurrence was predominantly due to incomplete resection and the low rate of postoperative radiotherapy. It also emphasized challenges in multidisciplinary regular follow ups and suggested early interventions such as dietary restrictions and increased exercise to prevent obesity.