Phenotypic and molecular reanalysis of a cohort of patients with monogenic diabetes reveals a case of partial lipodystrophy due to the A8344G mutation in the mitochondrial DNA.

Familial partial lipodystrophy (FPLD) is a very rare genetic disease characterized by insulin resistance due to a loss of subcutaneous fat from the extremities together with a progressive storage of fat around the face and neck and inside the abdomen. In over 50% of cases, molecular genetic testing reveals pathogenic variants in two nuclear genes, LMNA and PPARG. The case reported here refers to a woman phenotypically diagnosed with FPLD, who presented with diabetes and multiple cervical lipomatosis and in whom no variant had been found in the nuclear genes classically associated with this syndrome that could explain her phenotype.

Reduction of inappropriate shock rate through signal filtering (smart-pass) in patients with implantable subcutaneous cardioverter-defibrillator: a systematic review and meta-analysis.

Subcutaneous implantable cardioverter-defibrillators (S-ICD) are effective in protecting patients against sudden death but expose them to a higher risk of inappropriate shock (IAS). We performed a systematic search of studies published between January 2010 and December 2019 assessing IAS due to cardiac oversensing by the selection process (PRISMA) and identified 17 eligible articles. Fifteen studies were observational, and two studies were retrospective.

The performance of the MODY calculator in a non-Caucasian, mixed-race population diagnosed with diabetes mellitus before 35 years of age.

Background: A maturity-onset diabetes of the young (MODY) calculator has been described and validated for use in European Caucasians. This study evaluated its performance in Brazilians diagnosed with diabetes mellitus (DM) before 35 years of age.

Methods: The electronic records of 391 individuals were reviewed in 2020 at the diabetes clinic of a quaternary hospital in São Paulo were analyzed: 231 with type 1 DM (T1DM), 46 with type 2 (T2DM) and 114 with MODY.

Rapid Laser Reactive Sintering for Sustainable and Clean Preparation of Protonic Ceramics.

One of the essential challenges for energy conversion and storage devices based on protonic ceramics is that the high temperature (1600-1700 °C) and long-time firing (>10 h) are inevitably required for the fabrication, which makes the sustainable and clean manufacturing of protonic ceramic devices impractical. This study provided a new rapid laser reactive sintering (RLRS) method for the preparation of nine protonic ceramics [i.e.

Erythropoietin reduces the expression of myostatin in mdx dystrophic mice.

Erythropoietin (EPO) has been well characterized as a renal glycoprotein hormone regulating red blood cell production by inhibiting apoptosis of erythrocyte progenitors in hematopoietic tissues. EPO exerts regulatory effects in cardiac and skeletal muscles. Duchenne muscular dystrophy is a lethal degenerative disorder of skeletal and cardiac muscle.