Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile.

Rare diseases affect millions of people worldwide, and most have a genetic etiology. The incorporation of next-generation sequencing into clinical settings, particularly exome and genome sequencing, has resulted in an unprecedented improvement in diagnosis and discovery in the past decade. Nevertheless, these tools are unavailable in many countries, increasing health care gaps between high- and low-and-middle-income countries and prolonging the "diagnostic odyssey" for patients.

Association of the rs5186 polymorphism of the AGTR1 gene with decreased eGFR in patients with type 2 diabetes from Mexico City.

Background: Early biomarkers search for Diabetic Kidney Disease (DKD) in patients with Type 2 Diabetes Mellitus (T2DM), as genetic markers to identify vulnerable carriers of the disease even before Glomerular Filtration Rate (GFR) decline or microalbuminuria development, has been relevant during the last few years. The rs5186 (A116C) polymorphism of the Angiotensin II Receptor Type I gene (AGTR1), has been associated to multiple effects of renal injury risk, commonly detected in patients with Diabetes Mellitus (DM). It has been described that rs5186 could have an effect in stability proteins that assemble Angiotensin II Receptor Type I (AT1), modifying its action, which is why it should be considered as a risk factor for Chronic Kidney Disease (CKD), characterized by a GFR progressive reduction.

Remote Healthcare Program in Mexico in the Context of the COVID-19 Pandemic.

Objectives: Given the challenge of limiting the transmission of coronavirus disease 2019 while simultaneously continuing to provide medical care for other chronic and degenerative diseases and monitor therapy, a remote medical advice and guidance program was created to help individuals receive health services at their homes.

Methods: A descriptive, cross-sectional, and observational study was performed from April 13, 2020 to April 19, 2021 among Petroleos Mexicanos (PEMEX) health services beneficiaries. Mobile text messages were used to assign patients throughout Mexico to a doctor, who coordinated a video call with the nursing service for advice and remote care.

Mortality Rate Associated with Diabetes: Outcomes From a General Practice Level Analysis in England Using the Royal College of General Practitioners (RCGP) Database Indicate Stability Over a 15 Year Period.

Introduction: Total population mortality rates have been falling and life expectancy increasing for more than 30 years. Diabetes remains a significant risk factor for premature death. Here we used the Oxford Royal College of General Practitioners Research and Surveillance Centre (RCGP RSC) practices to determine diabetes-related vs non-diabetes-related mortality rates.

Socioeconomic inequalities in low birth weight risk before and during the COVID-19 pandemic in Argentina: A cross-sectional study.

Background: The coronavirus disease 2019 (COVID-19) pandemic may have exacerbated existing socioeconomic inequalities in health. In Argentina, public hospitals serve the poorest uninsured segment of the population, while private hospitals serve patients with health insurance. This study aimed to assess whether socioeconomic inequalities in low birth weight (LBW) risk changed during the first wave of the COVID-19 pandemic.

Is there a role for natural desiccated thyroid in the treatment of levothyroxine unresponsive hypothyroidism? Results from a consecutive case series.

Introduction: Some levothyroxine unresponsive individuals with hypothyroidism are prescribed a natural desiccated thyroid (NDT) preparation such as Armour Thyroid or ERFA Thyroid . These contain a mixture of levothyroxine and liothyronine in a fixed ratio. We evaluated the response to NDT in individuals at a single endocrine centre in terms of how the change from levothyroxine to NDT impacted on their lives in relation to quality of life (QOL) and thyroid symptoms.

The reverse coracoacromial ligament transfer for "horizontal" acromioclavicular joint instability.

Background: Acromioclavicular (AC) horizontal instability is a problem affecting not only young athletic patients after a trauma to the AC joint but also older patients who have undergone distal clavicle resection. It may cause pain and poor functional outcomes unless the reconstruction technique specifically addresses the horizontal instability of the clavicle, in addition to the well-known superior instability.

Methods: Three cadaveric specimens underwent dissection of the AC joint capsule to determine the superior attachments of the AC joint capsule.

Differential diagnoses of pseudolymphomatous folliculitis: considerations as regards one case.

Pseudolymphomatous folliculitis (PLF) is a rare disease of cutaneous lymphoid hyperplasia, with a low index of clinical suspicion. We present the clinical case of a 19-year-old male patient, with a solitary violet erythematous nodule of 6 months of evolution, located in the right infraorbital region, without presenting another symptomatology. Histopathological examination showed a lymphocytic infiltrate that surrounds the hair follicles, sebaceous and sweat glands that focally destroy their basement membrane.

Androgen receptor-reduced sensitivity is associated with increased mortality and poorer glycaemia in men with type 2 diabetes mellitus: a prospective cohort study.

Introduction: Hypogonadism is associated with poorer glycaemic outcomes/increased all-cause and cardiovascular morbidity/mortality in type 2 diabetes mellitus (T2DM). Increasing CAG repeat number within exon-1 of the androgen receptor (AR) gene is associated with increased AR resistance/insulin resistance.

Methods: We determined in a long-term 14-year follow-up cohort of 423 T2DM Caucasian men, the association between baseline androgen status/CAG repeat number (by PCR then Sequenom sequencing) and metabolic/cardiovascular outcomes.

The Anatomic Relevance of the Iliopectineal Fascia for Acetabular Surgery.

Objective: To describe in detail the variability of the attachments of the iliopectineal fascia (IPF) and its relation to the external iliac vessels to inform surgical approaches and help prevent injury to the adjacent vascular structures.

Methods: A cadaveric study was performed on 16 specimens. The IPF was identified from the lateral and medial perspectives of the II and anterior intrapelvic approaches, respectively, and its anatomic characteristics were described.

User Preferences Related to Multimedia Elements of a Mobile Application to Prevent Diabetes.

Objectives: To understand user preferences related to the characteristics of an application that promotes and provides education on healthy habits to correctly design multimedia elements.

Methods: We conducted a comprehensive qualitative study with a hermeneutical strategy, which gathered information using well-researched questions that were posed to focus groups consisting of 32 participants. These participants were asked for opinions related to multimedia elements to display educational messages about physical activity and healthy eating in a mobile application.

Meanings and perceptions of women regarding the practice of yoga in pregnancy: A qualitative study.

Background And Purpose: Considering that pregnancy triggers profound transformations in the life experience of women, among them the need to adapt to a body in a constant process of physiological, psychic, social and emotional change, it is important to identify to what extent yoga can contribute to this process. For this reason, the present study aimed to comprehend the meanings and perceptions of women regarding the practice of yoga during pregnancy.

Materials And Methods: A qualitative and descriptive study was carried out with nine women at different gestational ages who were practicing yoga in places with alternative and integrative therapies for pregnant women located in São Paulo, Brazil.

Applying Parkes Grid Method to Evaluate Impact of Variation in Blood Glucose Monitoring (BGM) Strip Accuracy Performance in Type 1 Diabetes Highlights the Potential for Amplification of Imprecision With Less Accurate BGM Strips.

Background: The National Health Service spends £170 million on blood glucose monitoring (BGM) strips each year and there are pressures to use cheaper less accurate strips. Technology is also being used to increase test frequency with less focus on accuracy.Previous modeling/real-world data analysis highlighted that actual blood glucose variability can be more than twice blood glucose meter reported variability (BGMV).

Lifestyle intervention in individuals with impaired glucose regulation affects Caveolin-1 expression and DNA methylation.

Aims: We investigated whether a lifestyle intervention could influence expression and DNA methylation of diabetes-related genes in patients with impaired glucose regulation (IGR), the results were compared to bariatric surgery, considering it an intensive change.

Methods: Twenty participants with IGR had adipose tissue biopsy and blood collected pre- and post-lifestyle (6 months) intervention; 12 obese patients had subcutaneous fat taken before and after bariatric surgery. RNA/DNA was extracted from all samples and underwent qPCR.

[Statement from the Immunization Committee of the Chilean Infectious Diseases Society in reference to vaccine refusal and mandatory policy on vaccination].

Although vaccines have had a tremendous impact in public health they are questioned by certain groups that consider them unnecessary or unsafe and argue in favor of the right to decide to be vacci nated or not. However vaccines must have special considerations because unlike other medical deci sions, not vaccinating has consequences not only for the individual but also for other members of the community. Immunizing a high proportion of the population limits the circulation of an infectious agent attaining what is called community or herd immunity that protects the susceptible members of the group.

Remarks on the possibility of introducing the fractionated dose of the inactivated poliomyelitis vaccine in the Latin American Child Immunization Schedule.

Given that the last notified case of poliomyelitis due to wild poliovirus type 2 was in 1999, in 2012, the Strategic Advisory Group of Experts on Immunization (SAGE) of the World Health Organization (WHO) recommended the withdrawal of the type 2 component of oral polio vaccine (OPV) and the introduction of a bivalent OPV (bOPV) in all countries by 2016. WHO recommended also that the withdrawal should be preceded by the introduction of at least one dose of inactivated poliovirus vaccine (IPV) in routine immunization schedules. The introduction of IPV prior to the change of the bOPV in 2016 to trivalent OPV (tOPV) was based on the concept of ensuring that a substantial proportion of the population would be protected against type 2 polio after the removal of the type 2 OPV.

[Remarks on the possibility of the introduction of fractionated dose of the inactivated poliomyelitis vaccine in the Latin American Child Immunization Schedule].

As last notified case of poliomyelitis due to wild poliovirus type 2 was 1999, in 2012, the Strategic Advisory Group of Experts on Immunization (SAGE) of the World Health Organization (WHO) recommended the withdrawal of the type 2 component of oral polio vaccine (OPV) and the introduction of bivalent OPV (bOPV) in all countries by 2016. WHO recommended also that the withdrawal should be preceded by the introduction of at least one dose of inactivated poliovirus vaccine (IPV) in routine immunization schedules. The introduction of IPV prior to the change of the bOPV in 2016 to trivalent OPV (tOPV) was based on the concept of ensuring that a substantial proportion of the population would be protected against type 2 polio after the removal of the type 2 OPV.

The pattern of prescribing of glucose modulating agents for type 2 diabetes in general practices in England 2016/17.

Background: In the financial year 2016/17 there were 52.0 million items prescribed for diabetes at a total net ingredient cost of £983.7 million - up from 28.

Sodium-glucose co-transporter-2 inhibitors, the latest residents on the block: Impact on glycaemic control at a general practice level in England.

Aims: To determine, using published general practice-level data, how differences in Type 2 diabetes mellitus (T2DM) prescribing patterns relate to glycaemic target achievement levels.

Methods: Multiple linear regression modelling was used to link practice characteristics and defined daily dose (DDD) of different classes of medication in 2015/2016 and changes between that year and the year 2014/2015 in medication to proportion of patients achieving target glycaemic control (glycated haemoglobin A1c [HbA1c] ≤58 mmol/mol [7.5%]) and proportion of patients at high glycaemic risk (HbA1c >86 mmol/mol [10.

[Statement from the Immunization Committee of the Chilean Infectious Diseases Society in reference to vaccine refusal and mandatory policy on vaccination].

Although vaccines have had a tremendous impact in public health they are questioned by certain groups that consider them unnecessary or unsafe and argue in favor of the right to decide to be vaccinated or not. However vaccines must have special considerations because unlike other medical decisions, not vaccinating has consequences not only for the individual but also for other members of the community. Immunizing a high proportion of the population limits the circulation of an infectious agent attaining what is called herd immunity that protects the susceptible members of the group.

Screening for Hypogonadism in Primary Healthcare: How to do this Effectively.

Background: Testosterone, the most important androgen produced by the testes, plays an integral role in male health. Testosterone levels are increasingly being checked in primary healthcare as awareness of the risks of male hypogonadism grows.

Aim: To investigate what tests are performed to screen for hypogonadism and to exclude secondary hypogonadism.