Joint pain is one of the most common reasons for consultation in clinical practice, and its correct interpretation presents a diagnostic challenge due to the wide variety of causes and clinical presentations.The assessment of joint pain requires a structured clinical approach that allows differentiation between joint and extra-articular causes and distinguishes between inflammatory and non-inflammatory processes. A detailed medical history and targeted physical examination form the cornerstone of the diagnostic process, facilitating the identification of clinical patterns based on the number of joints affected, their distribution and the course of the condition over time.Supporting investigations, including laboratory tests, synovial fluid analysis and imaging techniques, should be used judiciously and always within the clinical context, avoiding indiscriminate testing.This approach allows for the early recognition of potentially serious conditions, the identification of warning signs and the optimisation of decision-making in clinical practice.
INTRODUCTION:Stickler syndrome is a hereditary connective tissue disease with variable eye, auditory and musculoskeletal involvement. Its multi-organ signs require various specialists to be aware of it. We present a case series illustrating clinical variability and the presence of undescribed genetic variants. METHODS:Descriptive observational study of patients with clinical and genetic diagnosis of Stickler syndrome evaluated in a specialized hospital setting. Clinical signs and identified genetic variants were analyzed, as well as intra- and inter-familial variability in cases with shared mutations. RESULTS:The cohort comprised 18 patients carrying pathogenic or likely pathogenic heterozygous variants in the COL2A1 gene. Six distinct variants were identified, five of which have not been reported in other patients. Ophthalmological signs were the most prevalent clinical features, with myopia and retinal detachment observed in 67% of patients, followed by hearing loss (44%) and early-onset osteoarthritis (44%). Ocular signs exhibited the earliest age at onset. Intrafamilial analyses revealed relative phenotypic homogeneity among individuals harboring the same mutation, whereas marked differences were observed between families, suggesting distinct clinical profiles associated with specific genetic variants. CONCLUSIONS:This case series confirms the marked clinical heterogeneity of Stickler syndrome and identifies novel disease-causing variants in COL2A1. The findings support the presence of a partial genotype-phenotype correlation, which may inform clinical surveillance and risk stratification, particularly with regard to ophthalmological complications.
Osteoporosis is a highly prevalent chronic disease associated with an increased risk of fragility fractures and a substantial clinical and socioeconomic burden. Its management is based on fracture risk stratification, integrating clinical risk factors, bone mineral density, and tools such as FRAX®. Previous fragility fracture is the strongest predictor of future fractures and, in most cases, indicates the need for pharmacological treatment. In patients at high risk, antiresorptive agents remain the cornerstone of therapy, whereas in those at very high risk, an initial anabolic strategy followed by antiresorptive treatment should be considered. Treatment duration and sequencing require periodic reassessment, particularly with bisphosphonates and denosumab, whose discontinuation must be carefully planned to avoid rebound effects. This practical approach allows individualized clinical decision-making and aims to optimize fracture prevention, treatment adherence, and long-term outcomes in patients with osteoporosis in routine clinical practice settings.
BACKGROUND AND OBJECTIVE:To assess the relationship between alkalosis or metabolic alkalosis (MA) and mortality or rehospitalisation in patients with acute heart failure (AHF) through a systematic review and meta-analysis. MATERIALS AND METHODS:PubMed, Scopus and Web of Science were searched from inception to February 2025. Eligible studies included at least 50 patients and evaluated the association between alkalosis or MA and mortality or rehospitalisation in AHF. The review was conducted according to PRISMA guidelines and registered in PROSPERO (CRD42024525906). RESULTS:Of 1,395 potentially relevant publications, five studies were included in the systematic review. The prevalence of alkalosis ranged from 12% to 44%, whereas the prevalence of MA ranged from 3% to 9%. Two retrospective studies found an association between MA and in-hospital mortality, although this finding was not confirmed in other studies. Only one prospective study reported an association between MA and rehospitalisation for AHF at 30 and 90 days of follow-up. Four studies including 19,296 patients were included in the meta-analysis. No significant association was observed between alkalosis or MA and in-hospital mortality (OR 1.43, 95% CI 0.91-2.25 and OR 1.47, 95% CI 0.95-2.27, respectively). CONCLUSIONS:Very few studies have evaluated the relationship between alkalosis or MA and mortality or rehospitalisation in patients with AHF. The prognostic impact of MA in AHF remains uncertain. Meta-analysis showed no significant association between MA and in-hospital mortality. However, the limited available data do not allow robust conclusions to be drawn.
