Transformation of a long-standing phosphaturic tumor-inducing osteomalacia into malignancy.

Key Clinical Message: Tumor-induced osteomalacia is a paraneoplastic syndrome characterized by renal phosphate wasting and deranged bone turnover. Clinicians should consider tumor-induced osteomalacia in unexplained hypophosphatemia and investigate for underlying tumors. Abstract: Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome characterized by renal phosphate wasting, which leads to deranged bone turnover. TIO is usually associated with benign mesenchymal tumors, although it has also been reported in malignant tumors. We present the case of a 56-year-old individual who experienced a protracted 6-year clinical course characterized by hypophosphatemia, weakness, and kyphosis, alongside the presence of a foot tumor. Subsequently, this lesion displayed malignant behavior and was ultimately diagnosed as a high-grade sarcoma. To date, this case is among the 10 reported cases in the literature of a mesenchymal tumor associated with TIO undergoing malignant transformation. This report underscores the importance of a comprehensive evaluation of patients with unexplained hypophosphatemia and highlights the need for diligent follow-up to detect possible malignant transformation of the underlying tumor. Clinicians should consider TIO in the differential diagnosis of hypophosphatemia and promptly investigate for the presence of an underlying tumor, as early detection may improve the patient's prognosis.

A novel mutation c.457C > T p.Q153 in the HMBS gene in a Mexican woman with acute intermittent porphyria.

Key Clinical Message: The detection of a novel HMBS gene mutation (c.457C > T) in a Mexican woman with acute intermittent porphyria underscores the importance of expanding genetic analyses in diverse populations to improve diagnosis, management, and knowledge of the disease's clinical implications. Abstract: Acute intermittent porphyria (AIP) is an autosomal dominant disorder caused by a deficiency in the enzymatic activity of porphobilinogen deaminase (HMBS), resulting in the accumulation of toxic heme metabolites. In this report, we present the case of a Mexican woman with AIP who experienced recurrent episodes of severe abdominal pain, weakness, vomiting, and insomnia. Despite the challenges in diagnosis and treatment, genetic analysis revealed a novel HMBS mutation, c.457C > T (p.Q153X), located in exon 9. This mutation induces a premature translational stop codon and had not been previously reported in medical literature among individuals with AIP. Remarkably, the patient exhibited a positive response to RNA interference therapy. We hypothesize that this novel HMBS mutation may potentially account for the more severe clinical presentation observed in this case. However, further research is necessary to establish a definitive link between this specific mutation and disease severity. The prevalence and genetic variants of AIP in Mexico remain largely unknown, underscoring the importance of conducting additional research and expanding genetic analyses to gain a better understanding of the clinical implications associated with these mutations.

[Correlation between insufficiency or deficiency of vitamin D levels and interleukins 1ß and 6]. / Correlación entre la insuficiencia o deficiencia de los niveles de vitamina D y las interleucinas 1ß y 6.

OBJECTIVES: The primary objective of this study was to define the relationship between vitamin D levels and interleukins (IL) 1ß and 6 as inflammatory markers in a healthy population. As a secondary objective, to measure the prevalence of insufficiency/ deficiency of vitamin D in the same population. METHODS: A sample of 43 healthy blood donors, without chronic-degenerative, inflammatory, or infectious diseases, and without obesity, was selected. Serum levels of IL-1ß and IL-6 were measured in individuals with insufficiency or deficiency of vitamin D. The correlation between vitamin D and interleukins was measured using Spearman's rho. RESULTS: No correlation was found between levels of vitamin D and interleukins. In addition, a prevalence of insufficiency/deficiency of vitamin D was found in 95.3% of the sample. CONCLUSIONS: In healthy subjects with deficiency or insufficiency of vitamin D, there is no association between the levels of this vitamin and IL-1ß and IL-6.

Objetivos: El objetivo primario de este estudio fue definir la relación entre los niveles de vitamina D y las interleucinas (IL) 1ß y 6, como marcadores inflamatorios en población sana. Como objetivo secundario, medir la prevalencia de insuficiencia/deficiencia de vitamina D en la misma población. Métodos: Se seleccionó una muestra de 43 donadores de sangre sanos, sin enfermedades crónico-degenerativas, inflamatorias o infecciosas, y sin obesidad. A los individuos con insuficiencia o deficiencia de vitamina D se les midieron niveles séricos de IL-1ß e IL-6. Se midió la correlación de vitamina D e interleucinas mediante rho de Spearman. Resultados: No se encontró correlación entre los niveles de vitamina D y las interleucinas. Adicionalmente, se encontró una prevalencia de insuficiencia/deficiencia de vitamina D en 95.3 % de la muestra. Conclusiones: En sujetos sanos con deficiencia o insuficiencia de vitamina D, no existe correlación entre los niveles de esta vitamina y de IL-1ß e IL-6.

Prone position in non-intubated patient with COVID-19 as a maneuver to avoid intubation. / Posición prono en paciente no intubado con COVID-19 como maniobra para evitar la intubación.

BACKGROUND: The COVID-19 (from Coronavirus Disease 2019) is a disease that has generated a pandemic that has affected the world, Mexico included. The spectrum of the disease ranges from asymptomatic infection to severe acute respiratory distress syndrome (ARDS). The objective of the case is to demonstrate the usefulness of the prone position in non-intubated patients. CLINICAL CASE: We present the case of a woman without comorbidities with COVID-19 and moderate ARDS, in whom intubation was avoided after improvement with the prone position, as determined by arterial oxygen saturation by pulse oximetry and by the relationship of arterial oxygen pressure and the fraction of inspired oxygen (PaO2/FiO2). CONCLUSION: There is scarce evidence of this therapeutic maneuver in awake patients. However, it can help to improve oxygenation and to avoid intubation in these patients.

INTRODUCCIÓN: la COVID-19 (del inglés Coronavirus Disease 2019) es una enfermedad que ha generado una pandemia, la cual ha afectado a todo el mundo, incluido México. Esta enfermedad puede presentarse desde una infección asintomática hasta síndrome de distrés respiratorio agudo (SDRA) grave. El objetivo del reporte de caso es mostrar la utilidad de la posición prono en pacientes no intubados. CASO CLÍNICO: presentamos el caso de una mujer sin comorbilidades con COVID-19 y SDRA moderado, en quien se evitó la intubación tras la mejoría con la posición prono, evaluada por la saturación arterial de oxígeno por pulsioximetría y por la relación de la presión arterial de oxígeno y la fracción inspirada de oxígeno (PaO2/FiO2). CONCLUSIÓN: existe poca evidencia sobre esta maniobra terapéutica en pacientes despiertos. Sin embargo, puede ser de ayuda para mejorar la oxigenación y evitar la intubación en estos pacientes.