Volumen 14 · Número 3 · Octubre 2022
Familial hypocalciuric hypercalcemia (FHH) is a syndrome characterized by the association of mild or asymptomatic hereditary hypercalcemia and hypocalciuria. 3 subtypes have been described (FHH1, FHH2 and FHH3). FHH1, the most common, is due to inactivating mutations in the calcium-sensitive receptor (CaSR) gene [1-3]. Its prevalence is low, the inheritance is autosomal dominant, and it is often diagnosed by chance, because it is rarely symptomatic. Due to its clinical benignity, it is essential to establish a differential diagnosis (DD) with primary hyperparathyroidism (PHPT) to avoid unnecessary examinations and treatments. Routine genetic testing is not accurate because biochemical tests usually establish the diagnosis .
Joint recommendations on the management of patients with osteoporosis and/or fragility fractures during and after the pandemic due to COVID-19 of SEIOMM, SEFRAOS, SER, SEMI, SEGG, SEMG, SEMERGEN and SEEN
The COVID-19 pandemic has impacted the healthcare of patients with osteoporosis and fragility fractures .
Some strategies aimed at protecting against the spread of the virus, such as social distancing, have brought about changes in care models that are been homogeneous in all areas.
The need to limit access to health centers and infections has imposed a system of telemedicine  which offers many advantages to professionals and users and has become a key assistance tool to ensure social distancing. Likewise, telematic consultation can have additional applications in routine clinical practice, as it allows medical professionals to attend to patients with displacement problems and efficiently solve doubts and/or problems related to treatment, so it could be especially useful to control therapeutic compliance. However, in order to advance more effectively and secure telematic attention, always seeking the greatest agility in the responses, it should be protocolized.
Clinical efficacy of FRAX®-based hybrid and age-dependent intervention thresholds in the Ecuadorian population
Osteoporosis is a skeletal disorder characterized by compromised bone strength that predisposes to an increased risk of fracture . Osteoporosis-related fractures are a major health problem and a significant economic and social burden worldwide. By 2050, 12.5% of hip fractures worldwide are projected to occur in the Latin American and Caribbean region . Consequently, it is very important to recognize and treat people who are at high risk of fractures, for which several simple and inexpensive alternatives have been developed to identify and select people at risk who are candidates for treatment and evaluation of bone mineral density (BMD) .
Type 1 diabetes mellitus (DM1) has been associated with lower bone mass for more than 30 years [1,2], although existing data in children and adolescents are contradictory [3-8]. Published results on bone mass development in the adult diabetic population show a lower BMD in type 1 diabetics that persists over time and a higher risk of fractures [9-11]. However, in the pediatric population with DM1, longitudinal studies are very limited and with discrepant results. Some authors report a reduction in BMD during follow-up [6,12,13], while others do not observe long-term changes [14,15]. These discrepant results may be due to multiple variables such as the length of follow-up, which is almost always too short; the different ages and anthropometric variables, or the different pubertal stages of the diabetic population included in the studies [11-14].
Effect of treatment with denosumab for 24 months in individuals with recent spinal cord injury with osteoporosis
After a spinal cord injury (SCI) there is a marked loss of bone mass and an increase in remodeling that leads to the development of osteoporosis and skeletal fractures, especially below the level of the injury [1-3]. Thus, more than 50% of patients with complete SCI develop densitometric osteoporosis one year after SCI1, which can reach 81% of patients after more than 5 years of SCI . However, despite the high incidence of osteoporosis and fractures, the therapeutic approach to these patients is clearly deficient, since less than 10-20% of them receive anti-osteoporotic treatment [2,5].
Description of the patients treated at the Fracture and Fall Prevention Unit in the context of a Fracture Liaison Service. FLS Anoia
Worldwide, 1 in 3 women and 1 in 5 men will experience a fragility fracture in their lifetime. Every 3 seconds there is 1 fragility fracture in the world. The most frequent fractures associated with osteoporosis are located in the hip, spine and wrist [1,2].
Hip fracture has become an international barometer of osteoporosis, associated with low bone mineral density, high health care costs, and greater disability than other types of osteoporotic fracture . Only 30% of people with a hip fracture regain their pre-fracture level of physical function, and many are left with reduced mobility, loss of functional independence, and requiring long-term care. For this reason, among other reasons, the International Osteoporosis Foundation (IOF) has developed the Capture the Fracture program, aimed at reducing secondary and posterior fractures by facilitating the implementation of Fracture Liaison Services (FLS) [1,2].
Vitamin D is recently in the news. Until not many years ago, it was almost exclusively related to bone mineralization. However, the increasingly widespread knowledge that the actions of vitamin D extend to practically all our body cells has led to the discovery and research into the so-called “extra-osseous effects of vitamin D.” This research is increasing and becoming better known[1-8]. In fact, vitamin D should be termed hormone D, since its structure, functioning, control and self-regulation mechanisms are more typical of a hormone than a vitamin9.
Precisely one of these extra-osseous effects is the direct relationship of hormone D with the functioning of the cells responsible for the body’s immunity. Thus, low levels of vitamin D have been associated with a higher prevalence of infections and autoimmune diseases and adequate levels have been related to a better clinical course of infectious diseases[1,10,11].
In January 2020, when a group of researchers from the Chinese province of Wuhan published the outbreak caused by a novel corona virus, few of us imagined the storm that was looming. The experience of epidemic outbreaks due to emerging viral infections that have occurred worldwide in the past twenty years should have warned us that something like this could happen[2-4]. But even the very serious situation of the Ebola virus outbreak in West Africa in 2014 did not alert us, until just a few tragic cases spread across borders, set off alarm bells in Europe. But it seems more incomprehensible that, with the appearance of new viruses of zoonotic origin, such as SARS-CoV-1, MERS, avian influenza viruses (H5N1 and H7N9), or the 2009-H1N1 influenza virus that caused the first pandemic of the XXI century, in the year 2020 we were still ignoring the impending dangers.
The vitamin D system has extraskeletal pleiotropic functions, including the modulation of the adaptive immune response and the enhancement of the innate response[1-3]. This explains why vitamin D influence on infections has been the subject of many analyses. The implication of vitamin D deficiency in tuberculosis has been known for decades. But it has also been associated with other infections, mainly respiratory tract infections and others such as the flu, exacerbations of chronic obstructive pulmonary disease or cystic fibrosis, sepsis or human immunodeficiency virus infection. More recently, there has been interest in knowing its influence on the pathogenesis and possible therapeutic use in SARS-CoV-2 infection. In this article we will review the role of vitamin D in the immune system and its influence on infectious diseases.