Mild hypophosphatasia may be twice as prevalent as previously estimated: an effective clinical algorithm to detect undiagnosed cases.

OBJECTIVES: Since the prevalence of hypophosphatasia (HPP), a rare genetic disease, seems to be underestimated in clinical practice, in this study, a new diagnostic algorithm to identify missed cases of HPP was developed and implemented. METHODS: Analytical determinations recorded in the Clinical Analysis Unit of the Hospital Universitario Clínico San Cecilio in the period June 2018 - December 2020 were reviewed. A new clinical algorithm to detect HPP-misdiagnosed cases was used including the following steps: confirmation of persistent hypophosphatasemia, exclusion of secondary causes of hypophosphatasemia, determination of serum pyridoxal-5'-phosphate (PLP) and genetic study of ALPL gene. RESULTS: Twenty-four subjects were selected to participate in the study and genetic testing was carried out in 20 of them following clinical algorithm criteria. Eighty percent of patients was misdiagnosed with HPP following the current standard clinical practice. Extrapolating these results to the current Spanish population means that there could be up to 27,177 cases of undiagnosed HPP in Spain. In addition, we found a substantial proportion of HPP patients affected by other comorbidities, such as autoimmune diseases (∼40 %). CONCLUSIONS: This new algorithm was effective in detecting previously undiagnosed cases of HPP, which appears to be twice as prevalent as previously estimated for the European population. In the near future, our algorithm could be globally applied routinely in clinical practice to minimize the underdiagnosis of HPP. Additionally, some relevant findings, such as the high prevalence of autoimmune diseases in HPP-affected patients, should be investigated to better characterize this disorder.

Influence of the Mediterranean Diet on Healthy Aging.

The life expectancy of the global population has increased. Aging is a natural physiological process that poses major challenges in an increasingly long-lived and frail population. Several molecular mechanisms are involved in aging. Likewise, the gut microbiota, which is influenced by environmental factors such as diet, plays a crucial role in the modulation of these mechanisms. The Mediterranean diet, as well as the components present in it, offer some proof of this. Achieving healthy aging should be focused on the promotion of healthy lifestyle habits that reduce the development of pathologies that are associated with aging, in order to increase the quality of life of the aging population. In this review we analyze the influence of the Mediterranean diet on the molecular pathways and the microbiota associated with more favorable aging patterns, as well as its possible role as an anti-aging treatment.

Characterization of bone disease in cystic fibrosis.

With the increased life expectancy of people with cystic fibrosis (CF), clinical attention has focused on prevention and treatment of non-pulmonary comorbidities. CF-related bone disease (CFBD) is a common complication and leads to increased fracture rates. Dual energy X-ray absorptiometry (DXA) is the recommended and gold standard technique to identify and monitor bone health. However, DXA has limitations because of its two-dimensional nature. Complementary tools to DXA are available, such as trabecular bone score (TBS) and vertebral fracture assessment (VFA). Quantitative computed tomography (QCT), magnetic resonance imaging (MRI) and quantitative ultrasound (QUS) may also be useful.

The Influence of the Mediterranean Dietary Pattern on Osteoporosis and Sarcopenia.

Diet is a modifiable factor in bone and muscle health. The Mediterranean diet (MedDiet) is rich in nutrients and contains key bioactive components with probable protective effects on muscle and bone deterioration. Osteoporosis (OP) and sarcopenia are diseases that increase frailty and susceptibility to fracture, morbidity and mortality. Therefore, it is necessary to combat them in the population. In this regard, MedDiet adherence has proven to be beneficial to bone mineral density (BMD), muscle mass, physical function, OP and sarcopenia. Hence, this diet is proposed as a therapeutic tool that could slow the onset of osteoporosis and sarcopenia. However, there is doubt about the interaction between the MedDiet, strength and fracture risk. Perhaps the amount of EVOO (extra virgin olive oil), fruits, vegetables and fish rich in anti-inflammatory and antioxidant nutrients ingested has an influence, though the results remain controversial.

Prevalence of Sarcopenia and Dynapenia and Related Clinical Outcomes in Patients with Type 1 Diabetes Mellitus.

BACKGROUND: Sarcopenia has recently been recognized as a complication of diabetes. However, there are few results about the prevalence of sarcopenia and dynapenia and the related clinical outcomes in type 1 diabetes mellitus (T1DM). Our objectives were to evaluate the prevalence of sarcopenia and dynapenia and to determine whether there are any associations with disease-related factors in people with T1DM. METHODS: A cross-sectional study was conducted in people with T1DM. We assessed appendicular skeletal mass index (ASMI) using bioimpedance 50 Hz (Nutrilab Akern). Muscle function was assessed through handgrip strength (HGS) using a Jamar dynamometer. Sarcopenia was defined as a low HGS with low ASMI, whereas dynapenia was defined as low HGS with a normal ASMI. We used HGS data from the Spanish population percentile table and a cut-off point at p5 as dynapenia. The association of clinical, metabolic, and lifestyle variables with sarcopenia and dynapenia was studied. RESULTS: This study included 62 T1DM patients (66% females, mean age of 38 ± 14 years, body mass index (BMI) of 24.9 ± 4.7 kg/m2). The prevalence of sarcopenia and dynapenia was 8% and 23%, respectively. In our sample, there were more men in the sarcopenic and dynapenic groups. The sarcopenic group showed a significantly higher mean HbA1c value. Lower diabetes duration, PREDIMED score, BMI, and muscle mass measures (fat-free mass index (FFMI), ASMI, and body cell mass index (BCMI)) were significantly associated with sarcopenia. Decreased diabetes duration, PREDIMED score, phase angle (PhA), and HGS values showed a significant association with dynapenia. CONCLUSIONS: The prevalence of sarcopenia and dynapenia was high in people with T1DM in our study. Specifically, the proportion of dynapenia was quite high. HGS and ASMI are practical tools for the assessment of muscle health status in T1DM, and low values are associated with poor glycemic control, underweight, and low adherence to the Mediterranean diet. Thus, dynapenia may predict accelerated muscle aging in T1DM.