The intellectual disability syndrome characterized by seizures and dysmorphic features was initially described in 2017 and was associated with genetic variants in the OTUD6B gene, identified by exome sequencing (ES) in a large cohort. This multisystem disorder primarily affects the central nervous system, the gastrointestinal, and the skeletal systems. In this article, we describe the first Mexican patient diagnosed by ES. The homozygous c.433C>T (p.Arg145*) variant of the OTUD6B gene confirmed this intellectual disability syndrome. In addition to seizures and other more frequently reported manifestations of this condition, this is the third patient with associated hypothyroidism and hypogammaglobulinemia, underscoring the value of screening for these conditions in other patients. The current challenge with this patient is to ensure medical management of his seizures and provide him with a better quality of life. The possibilities of additional therapeutic approaches may increase by understanding the physiopathology of the involved pathways.
Background: There is scant information on the effect of supplementation with vitamin D3 in SARS-CoV-2 infection cases when patient 25-hydroxyvitamin D3 [25(OH)D3] levels are between 20–100 ng/mL. We aimed to evaluate the effect of supplementation with vitamin D3 vs. dietary–hygienic measures on the SARS-CoV-2 infection rate in participants with serum 25(OH)D3 levels ≥20 ng/mL. Methods: This study was quasi-experimental. We invited hospital workers with 25(OH)D3 levels between 20–100 ng/mL and no previous SARS-CoV-2 infection. They were randomized as follows: treatment options were a) vitamin D3 supplementation (52,000 IU monthly, G1) or b) dietary–hygienic measures (G2). We conducted a 3- to 6-month follow-up of SARS-CoV-2 infections. Participants with 25(OH)D3 levels <20 ng/mL were also analyzed. We divided these latter participants depending on whether they were supplemented (G3) or not (G4). Results: We analyzed 198 participants, with an average age of 44.4 (SD 9) years, and 130 (65.7%) were women. G1 had fewer cases of SARS-CoV-2 infection than G2 after a follow-up of 3- to 6-months (p < 0.05). There were no differences between G3 and G4 at the 3- and 6-month follow-up cutoff points (p > 0.05). Using a mixed effect Cox regression analysis in the 164 participants that completed six months of follow-up, vitamin D3 supplementation appeared to act as a protective factor against SARS-CoV-2 infection (HR 0.21, p = 0.008) in G1 and G2. None of the participants treated with the supplementation doses had serum 25(OH)D3 levels >100 ng/mL. Conclusions: Vitamin D3 supplementation in participants with 25(OH)D3 levels between 20–100 ng/mL have a lower rate of SARS-CoV-2 infection compared with the use of dietary–hygienic measures at six months follow-up.
Background: My Dose Coach (MDC) is a mobile application combined with a web portal that can suggest optimized basal insulin (BI) injection doses using Self-Measured Plasma Glucose (SMPG) and hypoglycemia data. This study aimed to evaluate its efficacy on patients reaching SMPG and Fasting blood glucose (FBG) target range 90-130 mg/dl (5-7.2 mmol/L) goals without severe hypoglycemic episodes. We also addressed the mean reduction in glycated hemoglobin (A1C), FBG, and SMPG and the improvement in the WHO’s Five Well Being Index (WBI). Methods: This prospective pilot study involved the use of MDC in outpatients with type 2 diabetes (T2DM) from a Hospital in Northern Mexico. Patients on treatment with any BI were included in the study. The follow-up was of 16 weeks. Student t-tests or McNemar test were used for effect comparisons. Results: We included 158 patients (46.8% women), mean (SD) age 51 (10.3) years. We achieved SMPG target range in 58.9% [mean (95CI) reduction of 30.9 mg/dl (22.5-37.7; P < .001)] of the patients [66(28) days], with no severe hypoglycemia events. FBG goal was reached in 55.7% [mean (95CI) reduction of 63.4 mg/dl (49.6-77.2; P < .001)]. The mean (95CI) reduction of A1C was 1.78% (1.47-2, P < .01) with the last observation carried forward. There was a mean (95CI) increase of 2.23 (−3, −1.4, P < .01) points in WBI scale. Conclusions: MDC successfully helped to achieve FBG and SMPG goals, reduced A1C, and increased WBI with no severe hypoglycemia events.
BackgroundThe values of viral load in COVID-19 disease have gained relevance, seeking to understand its prognostic value and its behavior in the course of the disease, although there have been no conclusive results. In this study we sought to analyze serum viral load as a predictor of clinical outcome of the disease, as well as its association with inflammatory markers.MethodsAn observational and retrospective study in a private hospital in North Mexico, patients with SARS-COV-2 infection confirmed by reverse transcriptase polymerase chain reaction (RT-PCR) were followed through clinical outcome, viral load measurement, quantification of inflammatory markers and lymphocyte subpopulations. For the analysis, multiple regression models were performed. Results: We studied 105 patients [47 (SD 1.46) years old, 68.6% men]. After analysis with multiple regression models, there was an association between viral load at admission and vaccination schedule (β-value=-0.279, p= 0.007), age (β-value= 0.010, p = 0.050), mechanical ventilation (β-value= 0.872, p = 0.007), lactate dehydrogenase (β-value= 1.712, p= 0.004), D-dimer values at admission (β-value= 0.847, p= 0.013) and subpopulation of B lymphocytes at admission (β-value= -0.527, p= 0.042). There was no association with days of hospitalization, use of nasal prongs or high flux mask. Peak viral load (10 days after symptoms onset) was associated with peak IL-6 (β-value= 0.470, p= 0.011). Peak viral load matched with peak procalcitonin and minimal lymphocyte values. C-reactive protein peak was before the peak of viral load. The minimum value viral load was documented on day 12 after symptom onset; it matched with the minimum values of IL-6 and ferritin, and the peak of D-dimer.ConclusionsSARS-COV-2 admission viral load is associated with vaccination status, mechanical ventilation, and different inflammatory markers.
Background: Coaching en Diabetes (CoeD) is a multidisciplinary program created for steelworkers and their families with type 2 diabetes mellitus (T2DM) and HbA1c ≥ 9% to improve blood glucose levels. Objective: To assess the program's impact on glycemic control after 2 years. Methods: This was a retrospective and longitudinal study of uncontrolled T2DM at Hospital Clínica Nova in Mexico. The effect of CoeD on glycemic control was evaluated from May 2017 to 2019. Results: CoeD included 153 (115 [75.2%] males) patients, with a mean (SD) age of 62.9 (11.2) years. The duration of T2DM was 9.7 (6.6) years. A decrease in HbA1c of 1.5% (mean [SD] 9.8% [1.5]-8.3% [1.6], p ≤ 0.05) and in fasting glucose of 41.8 mg/dl (mean [SD] 180 mg/dl [67]-138.2 mg/dl [55], p ≤ 0.05) was observed through 2-year follow-up. Emergency room visits or hospitalization rates and the incidence of most comorbidities related to diabetes remained stable over time. Conclusions: CoeD successfully improved and sustained glycemic control in male steelworkers and their families with HbA1c ≥ 9% over a 2-year follow-up.
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