CNOT1 p.Arg535Cys variant in holoprosencephaly with late onset diabetes mellitus.

Holoprosencephaly (HPE) results from a lack of cleavage of the prosencephalon. It has a complex etiology, resulting from chromosome abnormalities or single gene variants in the Sonic hedgehog signaling pathway. A single variant, p.Arg535Cys in CNOT1, has been described in HPE in association with pancreatic agenesis and neonatal diabetes. Here, we report on a case of HPE and p.Arg535Cys in CNOT1 without pancreatic agenesis where the patient presented with diabetes mellitus in adolescence. This case reinforces the role of CNOT1 in pancreatic development. We suggest that individuals with p.Arg535Cys in CNOT1 with no pancreas abnormalities observed at birth should be screened for diabetes during follow-up.

Comparison of the effect of a compact vs a conventional, long-term education program on metabolic control in children and adolescents with type 1 diabetes: A pilot, randomized clinical trial.

BACKGROUND: Effective education is considered essential for people with type 1 diabetes mellitus (T1DM) to adhere to a complex and long-term medical regimen and to delay or prevent the onset of diabetes-related complications. OBJECTIVE: We compared the effect of a compact, cost-effective, education program (CEPT1) vs a long-term program on the metabolic control of children and adolescents with T1DM. METHODS: Young people aged 8 to 21 years with T1DM were randomized to a short-term (experimental) or an extensive education program (control). The experimental group participated in three sessions of 90 minutes, with one session per week, containing five short videos. The control group attended an extended program delivered through 45-minute PowerPoint lectures, with one class every 3 months. The primary outcome was change in glycated hemoglobin A1c (HbA1c) levels from baseline to endpoint (baseline, 3, 6, 9, and 12 months). RESULTS: In total, 62 patients were randomized to the experimental (CEPT1) (n = 32) or control (n = 30) groups. Both groups showed comparable improvement in HbA1c levels at the end of 12 months (P = .183). In a per-protocol analysis, the mean HbA1c level reduction was -2.3% (-2.6, -2.0) in the experimental group and - 1.8% (-2.0, -1.5) in the control group (P = .008). CONCLUSION: CEPT1 was comparable with an extensive education program in reducing HbA1c levels. In a per-protocol analysis, the CEPT1 was more effective than the control program in reducing HbA1c levels. CEPT1 is a simple and cost-effective tool that can equally be used in settings with limited resources and specialized centers.

Hospital discharge in the day following open Roux-en-Y gastric bypass: is it feasible and safe?

BACKGROUND: Roux-en-Y gastric bypass (RYGBP) either laparoscopic or open has been increasingly employed in the treatment of patients with morbid obesity. Laparoscopic approach is believed to be superior over open approach in terms of shorter hospital stay and easier recovery. We aimed to assess feasibility and safety of open RYGBP with short stay in comparison with laparoscopic RYGBP. METHODS: One hundred and ninety consecutive patients were assigned to open (n=103) or laparoscopic (n=87) RYGBP. The first 20 patients of the laparoscopic arm were excluded due to procedure learning curve. Patients were treated by a multidisciplinary team focused on successfully RYGBP with short stay (1 day). RESULTS: Short stay was reached by 90% of patients operated with open approach and 81% by laparoscopy (P=0.070). Discharge in the second day was reached by 97% of patients in both groups. Procedure length [(median (IQR)] was faster for open RYGBP [103 (70-180 min) vs. 169 (105-248 min); P<0.0001]. Thirty-day readmission rate was similar between groups (3% vs. 7%; P=0.266). There was no death in either group. CONCLUSION: Short stay (1 day) following open gastric bypass was a feasible and safe procedure. This approach might have economic impact and might increase patient acceptance for open RYGBP.

[How the continuous glucose monitoring system can contribute to HbA1c interpretation in type 1 diabetes mellitus?]. / Como a monitorização contínua de glicose subcutânea pode colaborar na interpretação dos valores da HbA1c no diabetes melito tipo 1?

The aim of the present study is a literature revision of the contribution of continuous glucose monitoring system (CGMS) in the interpretation of HbA1c levels in type 1 diabetes (T1DM). We performed a revision of the efficacy, benefits, interpretation of methods and experience with this system. The CGMS could be useful in T1DM patients that present great glycemic variability or severe hypoglycemia (mainly nocturnal) and postprandial hyperglycemia. The identification of altered patterns or the glycemic variability allows therapeutic adjustment and improvement of the metabolic control. CGMS is a safe method with a rare occurrence of side effects and it is well-tolerated by patients. The extension of the procedure for more days, over the 72h period recommended by the standard test, allows us to get important data to changes and adjustments on the insulin management of the type 1 diabetes mellitus patients.

Como a monitorização contínua de glicose subcutânea pode colaborar na interpretação dos valores da HbA1c no diabetes melito tipo 1?: [revisão] / How the continuous glucose monitoring system can contribute to HbA1c interpretation in type 1 diabetes mellitus?: [review]

O objetivo desta revisão é avaliar como o sistema de monitorização contínua de glicose subcutânea (CGMS®) pode colaborar na interpretação dos valores da hemoglobina glicada (A1c) no diabetes melito tipo 1. Foi realizada uma revisão bibliográfica dos benefícios, dos métodos, da interpretação e da experiência com CGMS®. A utilização de sensores contínuos pode ser útil na avaliação de pacientes com diabetes melito com oscilações glicêmicas, hipoglicemias graves, especialmente as noturnas, e hiperglicemias pós-prandiais. A identificação de padrões glicêmicos alterados permite ajustes terapêuticos e melhora do controle metabólico. O CGMS® é um procedimento de fácil utilização, com efeitos adversos de pequena intensidade e boa tolerância pelos pacientes. Embora o fabricante preconize um período de utilização de até três dias, observa-se que o prolongamento do teste por mais dias permite a obtenção de dados que auxiliam em mudanças terapêuticas superiores às realizadas com os registros do tempo convencional.

The aim of the present study is a literature revision of the contribution of continuous glucose monitoring system (CGMS®) in the interpretation of HbA1c levels in type 1 diabetes (T1DM). We performed a revision of the efficacy, benefits, interpretation of methods and experience with this system. The CGMS® could be useful in T1DM patients that present great glycemic variability or severe hypoglycemia (mainly nocturnal) and postprandial hyperglycemia. The identification of altered patterns or the glycemic variability allows therapeutic adjustment and improvement of the metabolic control. CGMS® is a safe method with a rare occurrence of side effects and it is well-tolerated by patients. The extension of the procedure for more days, over the 72h period recommended by the standard test, allows us to get important data to changes and adjustments on the insulin management of the type 1 diabetes mellitus patients.