Myopathic Carnitine Palmitoyltransferase II (CPT II) Deficiency: A Rare Cause of Acute Kidney Injury and Cardiomyopathy.

Carnitine palmitoyltransferase II (CPT II) deficiency is a long-chain fatty acid (LCFA) oxidation disorder. There are three main types classified by symptoms and age of onset: the neonatal form, the infantile hepatocardiomuscular form, and the adult or myopathic form. The first two are early-onset severe disorders presenting with marked hypoketotic hypoglycemia, cardiomyopathy, and liver dysfunction. The latter is characterized by muscle pain and weakness and stiffness, typically triggered by exercise or febrile illnesses and occasionally associated with myoglobinuria. One of the most common complications is acute kidney injury (AKI) following massive rhabdomyolysis, which is managed with aggressive fluid therapy; crystalloid solutions are preferred. We report an otherwise healthy 38-year-old patient who presented with severe myalgia, cramps, fatigue, low-grade fever, and transient myoglobinuria, after intense physical training. Significant recurrent muscle pain was reported. Family history was unremarkable. Imaging studies showed no abnormalities. Echocardiogram showed a left ventricle ejection fraction (LVEF) of 40%. Acetylcarnitine analysis with tandem mass spectrometry and molecular tests confirmed the diagnosis. Fluid resuscitation was started. Acute kidney injury was diagnosed and managed with plasmapheresis and five sessions of hemodialysis. The patient was discharged upon the improvement of renal function with lifestyle modification recommendations. In otherwise healthy young adults presenting with myalgia and rhabdomyolysis triggered by physical activity or infection, CPT II deficiency should be considered, and genetic testing should be initiated to provide an opportunity for patients to modify their daily lifestyle, preventing future attacks and the development of complications.

Late Recurrence of Renal Cell Carcinoma in Unusual Sites 23 Years After Nephrectomy.

Renal cell carcinoma (RCC) is a common malignancy in the elderly population and it is notorious for its mechanism of late metastasis to unusual anatomical sites. Late recurrences are common following curative treatment, such as radical nephrectomy. Pancreatic metastases and hepatic metastatic lesions make the diagnosis and classification of a primary tumor challenging. This necessitates a high index of suspicion and an extensive interrogation. We present the case of a 68-year-old Hispanic female with progressive pain in the right upper quadrant, weight loss, and decreased appetite. She has a history of renal cell carcinoma treated with radical nephrectomy and radiotherapy. A pancreatic biopsy was performed based on the ultrasound and computed tomography findings at a private clinic. Subsequently, the patient was referred to the Instituto Oncologico Nacional (ION) due to immunohistochemical features suggestive of a well-differentiated neuroendocrine tumor. At ION, a more comprehensive medical history was obtained, and the immunohistochemistry panel was extended, confirming the diagnosis of late recurrence of RCC. One possible explanation for the very late relapse of our patient is the presence of malignant cells that were spared or seeded during the surgical intervention and remained dormant or latent, subsequently spreading via hematogenous dissemination or via the lymphatic system. We highlight the importance of medical history, pathological examination, and immunohistochemical analysis in establishing a differential diagnosis, given the nature of RCC, which can often present asymptomatically and has a propensity for late recurrence. Further research should focus on developing standardized surveillance protocols for such cases.

Recurrent Syncope in a Patient With Arrhythmogenic Right Ventricular Cardiomyopathy.

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an autosomal inherited cardiac condition characterized by fibroadipose tissue replacement of the right ventricular muscle, leading to structural changes and a high risk for ventricular arrhythmias, a gradual decline in right ventricular function, and sudden cardiac death. ARVC has an autosomal dominant inheritance pattern with variable expression among patients, typically affecting young adults. Genetic mutations affecting the cardiac desmosome genes have been widely reported. Intense exercise has been hypothesized as one of the drivers of ARVC's pathogenesis. Due to its non-specific presentation, it can become a diagnostic challenge for physicians with delayed care. We report a case of a male adult with a history of recurrent syncope and atypical chest pain who developed ventricular tachycardia on admission. This case aims to highlight the unspecific manifestations of ARVC and its main electrocardiographic features for an early diagnosis.

Acute Presentation of Mesoamerican Nephropathy in an Agricultural Worker From Panama.

Mesoamerican nephropathy (MeN) is Central America's growing endemic renal disorder. No single cause is established, but many risk factors are hypothesized, such as young and medium-aged adults, male sex, work environment, heavy metals and agrochemicals exposure, occupational heat stress, nephrotoxic drug use, and low socioeconomic status. The diagnosis is confirmed by renal biopsy with chronic tubular atrophy and tubulointerstitial nephritis. If biopsies are unavailable, MeN is clinically suspected in patients residing in hotspot regions with a reduced estimated glomerular filtration rate (eGFR) and the absence of defining etiology, such as hypertension, diabetes, or glomerulonephritis. Currently, there is no specific treatment for which early diagnosis and intervention on risk factors is the primary strategy to improve prognosis. We report a case of a young male with agricultural labor exposure who presented with acute abdominal pain, back pain, and renal dysfunction that later progressed to chronic kidney disease (CKD) due to MeN. This case is significant because, although MeN is well-described in the literature, few cases of acute presentation have been documented.

Análisis ético y jurídico del turismo médico en Colombia. Riesgos en la instrumentalización comunicativa / Ethical and legal analysis of medical tourism in Colombia. Risks in communicative instrumentalization

En un contexto globalizado, donde el mundo convencional se expande a lo virtual, se desarrolla un análisis ético y jurídico del turismo médico en Colombia mediante la identificación de riesgos potenciales en la instrumentalización comunicativa. La oferta y demanda de cirugía estética acompañada del marketing, como un reflejo del deseo, lo bello y el maquillaje, promueven tensiones éticas latentes. La incertidumbre jurídica que gravita alrededor del flujo transfronterizo e indeterminación de los distintos sistemas jurídicos exterioriza varios frentes susceptibles de abordaje y que a su vez se erigen como desafíos. El trasfondo de las reflexiones que se divisan hace imprescindible reivindicar prerrogativas fundamentales, inherentes a los seres humanos, que parecen desvanecerse ante inserciones cada vez más frecuentes y penetrantes provenientes de realidades construidas y enraizadas en el vaivén de los precios (AU)

In a globalized context, where the conventional world expands into the virtual, an ethical and legal analysis of medical tourism in Colombia is developed through identifying potential risks via communicative instrumentalization. The supply and demand for cosmetic surgery along with the associated marketing, as it reflects on desire, beauty, and makeup, promote latent ethical tensions. The legal uncertainty that gravitates around the cross-border flow and the indeterminacy within the different legal systems externalizes on several fronts that should be addressed and which in turn pose challenges. The background of the reflections that can be seen make it essential to claim fundamental prerogatives, inherent to humanity, which seem to vanish when presented with the frequent and penetrating insertions coming from realities built and rooted in the fluctuations of prices (AU)

En un context globalitzat, on el món convencional s'expandeix al virtual, es desenvolupa una anàlisi ètica i jurídica del turisme mèdic a Colòmbia mitjançant la identificació de riscos potencials en la instrumentalització comunicativa. L'oferta i demanda de cirurgia estètica acompanyada del màrqueting, com un reflex del desig, el bell i el maquillatge, promouen tensions ètiques latents. La incertesa jurídica que gravita al voltant del flux transfronterer i indeterminació dels diferents sistemes jurídics exterioritza diversos fronts susceptibles d'abordatge i que al seu torn s'erigeixen com a desafiaments. El rerefons de les reflexions que s'albiren fa imprescindible reivindicar prerrogatives fonamentals, inherents als éssers humans, que semblen esvair-se davant insercions cada vegada més freqüents i penetrants provinents de realitats construïdes i arrelades en el vaivé dels preus (AU)

Toma de decisiones centradas en la familia en la enfermedad renal crónica avanzada. De la autonomía individual a la autonomía familiar o comunitaria / Family Centered Decision Making in Advanced Chronic Kidney Disease. From individual autonomy to family or community autonomy / Tomada de decisões centradas na família na enfermidade renal crônica avançada. Da autonomia individual à autonomia familiar ou comunitária

Resumen El aumento de la tasa de incidencia y prevalencia de la enfermedad renal crónica plantea desafíos y dilemas éticos que tanto pacientes como familiares y profesionales de salud deben enfrentar diariamente. El objetivo de este artículo es reflexionar acerca de que, para la toma decisiones, los pacientes recurren a terceros como partícipes, lo que a nuestro juicio requiere un abordaje desde la autonomía solidaria. Se presenta el análisis de doce entrevistas semiestructuradas, realizadas a pacientes de 60 años o más, de distintos programas de la Unidad de Nefrología del Hospital Universitario San Ignacio, Colombia, entre 2017-2018. El artículo propone la necesidad de toma de decisiones centradas en la familia de los pacientes con enfermedades crónicas, antes de que su estado sea avanzado y los estados de inconciencia impidan su autodeterminación, considerando la determinación social de la autonomía.

Abstract The increase in the incidence and prevalence rate of Chronic Kidney Disease poses challenges and ethical dilemmas that patients, family members and health professionals must face daily. The objective of this article is to present a reflection on the way in which patients make recourse to third parties as participants in their decision-making, which would require an approach based on solidarity autonomy. The analysis of twelve semi-structured interviews conducted with patients 60 years of age and older, from different programs of the Nephrology Unit of the Hospital Universitario San Ignacio in the period 2017-2018 Colombia, is presented. This article proposes the need for family-centered decision making of patients with chronic diseases, before their state is advanced and states of unconsciousness prevent their self-determination, considering the social determination of autonomy.

Resumo O aumento da taxa de incidência e prevalência da enfermidade renal crônica coloca desafios e dilemas éticos que tanto pacientes como familiares e professionais da saúde devem enfrentar diariamente. O objetivo deste artigo é refletir acerca de que, para a tomada de decisões, os pacientes recorrem a terceiros como partícipes, o que a nosso juízo requer uma abordagem a partir da autonomia solidária. Se apresenta a análise de doze entrevistas semiestruturadas, realizadas com pacientes de 60 anos ou mais, de distintos programas da Unidade de Nefrologia do Hospital Universitário San Ignacio, Colômbia, entre 2017-2018. O artigo propõe a necessidade de tomada de decisões centradas na família dos pacientes com enfermidades crônicas, antes que seu estado esteja avançado e estados de inconsciência impeçam sua autodeterminação, considerando a determinação social da autonomia.

Efficient Photochemical Synthesis of Peptide-α-Phenylthioesters.

Low yields and substantial epimerization of peptide-α-thioesters often compromise the overall efficiency of native chemical ligation (NCL). Peptide arylthioesters are more reactive than peptide alkylthioesters in NCL, but are also more difficult to handle due to their propensity to hydrolyze, and are therefore often generated in situ. However, pre-prepared peptide arylthioesters are required for some NCL applications. Here we present a 7-nitroindoline-based photochemical method that generates protected peptide phenylthioesters under neutral reaction conditions via their activated esters from photoreactive peptide precursors in high isolated yields, and with low levels of epimerization. This method is fully compatible with Fmoc-strategy solid-phase peptide synthesis. Global deprotection with trifluoroacetic acid furnishes peptide phenylthioesters for NCL. Photoreactive peptide precursors can also be converted into their hydrazides in two steps by this method.