Persistir y no desistir: diagnosticando un caso de porfiria aguda intermitente / Persist and do not give up: diagnosing a case of acute intermittent porphyria

A young woman with a history of asthma and anxiety-depressive syndrome, with poor adherence to treatment in long follow-up by Psychiatry and Family Medicine. She consulted for persistent abdominal pain refractory to conventional analgesia, associated with hypertension, hyponatremia, and progressive muscle weakness. It was performed a first Hoesch test which was positive; however, the study of porphyrins in blood and urine was inconclusive. On the other hand, she presented an acute respiratory failure requiring transfer to the ICU. A second Hoesch test was repeated, remaining positive, in addition to the presence of an increase in porphobilinogen in 24-hour urine and delta-aminolevulinic acid. Genetic study was performed, being compatible with acute intermittent porphyria. Treatment with carbohydrates and hemin was started with an adequate response. Approval of givosiran (RNA interference drug) has been requested. The patient has shown clinical improvement. Due to functional deterioration, she required rehabilitation support. (AU)

Mujer joven con antecedentes de asma y síndrome ansioso-depresivo con escasa adherencia al tratamiento, en seguimiento por Psiquiatría y Médico de Familia desde hace años. Consultó por dolor abdominal persistente y refractario a analgesia convencional, junto con hipertensión, hiponatremia y debilidad muscular progresiva. Se realizó un primer test de Hoesch que fue positivo, aunque el estudio inicial de porfirinas en sangre y orina no fue concluyente. Posteriormente presentó insuficiencia respiratoria aguda, precisando traslado a UCI. Se repitió el test de Hoesch, nuevamente positivo, además de hallar incremento de porfobilinógeno en orina de 24 horas y de ácido delta-aminolevulínico. El estudio genético fue compatible con porfiria aguda intermitente. Recibió tratamiento con carbohidratos y hemina con adecuada respuesta. Está pendiente de aprobación de givosiran (fármaco ARN de interferencia). Ha evolucionado favorablemente, precisando soporte rehabilitador por marcado deterioro funcional. (AU)

Efficacy of canakinumab in a patient with adult-onset glucocorticoid-resistant periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis syndrome.

Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome, a polygenic or multifactorial condition, is the most frequent autoinflammatory disease in children. There is increasing evidence that some patients may have a disease onset during adulthood. With regard to PFAPA syndrome treatment, single medium-to-high doses of glucocorticoids during flares constitute the therapy of choice in children and adults, colchicine may be useful in some patients, and tonsillectomy has been reported of utility mainly in paediatric patients. Interleukin-1 (IL-1) blockers have been sporadically used with good response in glucocorticoid-resistant cases. We report a patient with an adult onset of glucocorticoid-resistant PFAPA syndrome and inconsistent response to colchicine and anakinra, who later achieved a complete and sustained response to canakinumab. Although canakinumab seems to be a good therapeutic option in paediatric and adult patients with refractory PFAPA syndrome, the best anti-IL-1 agent and the sequence of administration have to be still determined in well-designed clinical trials.

Preclinical ocular changes in systemic lupus erythematosus patients by optical coherence tomography.

OBJECTIVE: The aim of the present study was to detect preclinical changes in SLE patients in retinal microvascularization or retinal and optical nerve structure by optical coherence tomography. METHODS: This cross-sectional, single-centre study aimed to describe structural changes [macular and retinal nerve fibre layer (RNFL) thickness] by structural spectral-domain optical coherence tomography (SD-OCT) and perifoveal vascular [vessel density (VD) and vascular perfusion (VP) and foveal avascular zone (FAZ) structural parameters] findings by OCT angiography (OCTA) in 78 SLE patients and 80 healthy volunteers. In addition, we analysed their association with clinical and laboratory parameters, medications received, disease duration, and SLE activity and damage. RESULTS: Structural parameters by SD-OCT and perifoveal vascular parameters by OCTA were decreased in SLE patients compared with controls. OCTA parameters (VD, VP and FAZ circularity) and macular thickness were also decreased in patients with longer disease duration (>10 years). The presence of aPLs was associated with a decreased RNFL thickness, mainly in the inferior quadrants. Patients developing APS also showed decreased RNFL thickness and OCTA flow changes. SD-OCT and OCTA results were not associated with disease activity. Foveal structural parameters were lower in patients with higher damage score. CONCLUSION: SD-OCT and OCTA can detect preclinical structural and microcirculatory changes in SLE patients. Structural and perifoveal vascular macular changes in SLE patients are related to disease duration. Macular structural parameters were impaired in patients with higher disease damage. APS seems to be associated with preclinical damage to the optic nerve and impairment of the perifoveal microvasculature.

Longitudinal relationship of liver injury with inflammation biomarkers in COVID-19 hospitalized patients using a joint modeling approach.

The mechanisms underlying liver disease in patients with COVID-19 are not entirely known. The aim is to investigate, by means of novel statistical techniques, the changes over time in the relationship between inflammation markers and liver damage markers in relation to survival in COVID-19. The study included 221 consecutive patients admitted to the hospital during the first COVID-19 wave in Spain. Generalized additive mixed models were used to investigate the influence of time and inflammation markers on liver damage markers in relation to survival. Joint modeling regression was used to evaluate the temporal correlations between inflammation markers (serum C-reactive protein [CRP], interleukin-6, plasma D-dimer, and blood lymphocyte count) and liver damage markers, after adjusting for age, sex, and therapy. The patients who died showed a significant elevation in serum aspartate transaminase (AST) and alkaline phosphatase levels over time. Conversely, a decrease in serum AST levels was observed in the survivors, who showed a negative correlation between inflammation markers and liver damage markers (CRP with serum AST, alanine transaminase [ALT], and gamma-glutamyl transferase [GGT]; and D-dimer with AST and ALT) after a week of hospitalization. Conversely, most correlations were positive in the patients who died, except lymphocyte count, which was negatively correlated with AST, GGT, and alkaline phosphatase. These correlations were attenuated with age. The patients who died during COVID-19 infection displayed a significant elevation of liver damage markers, which is correlated with inflammation markers over time. These results are consistent with the role of systemic inflammation in liver damage during COVID-19.

La cuestión está en el síndrome general (y la pérdida de visión) / The question is the general syndrome (and the vision loss)

We present the case of a man who refers weight loss, asthenia, andrectal bleeding. After the initial tests a rectal ulcer was found througha colonoscopy. After that, he consulted for acute loss of vision, withfindings in the ophthalmological explorations compatible with bilateralposterior uveitis. We propose the differential diagnosis of the rectalulcer in one hand and of the bilateral posterior uveitis in the other,with the aim of reaching a diagnosis which involves both alterations.

Presentamos el caso de un hombre que consulta por pérdida depeso, astenia y rectorragia. En los estudios iniciales se objetiva una úlcera rectal en la colonoscopia realizada. Posteriormente presenta pérdida de visión brusca, con hallazgos en la exploración oftalmológica compatibles con uveítis posterior bilateral.Se plantea el diagnóstico diferencial por un lado de la úlcera rectal ypor otro de la uveítis posterior bilateral para llegar a un diagnósticoque aúne ambas alteraciones.

De-novo non-convulsive status epilepticus in adult medical inpatients without known epilepsy: Analysis of mortality related factors and literature review.

BACKGROUND: Non-convulsive status epilepticus (NCSE) often goes unnoticed and is not easily detected in patients with a decreased level of consciousness, especially in older patients. In this sense, lack of data in this population is available. AIMS: The aim of the present study was to examine daily clinical practice and evaluate factors that may influence the prognosis of NCSE in non-epileptic medical inpatients. METHODS: We conducted a retrospective analysis including patients admitted by any cause in an Internal Medicine ward. All patients with compatible symptoms, exclusion of other causes, clinical suspicion or diagnosis of NCSE, and compatible EEG were included. Patients with a previous diagnosis of epilepsy were excluded. We also conducted a literature review by searching the PubMed/Medline database with the terms: Nonconvulsive Status OR Non-Convulsive Status. RESULTS: We included 54 patients, mortality rate reached 37% and the main factors linked to it were hypernatremia (OR = 16.2; 95% CI, 1.6-165.6; P = 0.019) and atrial fibrillation (OR = 6.7; 95% CI, 1.7-26; P = 0.006). There were no differences regarding mortality when comparing different diagnosis approach or treatment regimens. Our literature review showed that the main etiology of NCSE were neurovascular causes (17.8%), followed by antibiotic treatment (17.2%) and metabolic causes (17%). Global mortality in the literature review, excluding our series, reached 20%. DISCUSSION: We present the largest series of NCSE cases in medical patients, which showed that this entity is probably misdiagnosed in older patients and is linked to a high mortality. CONCLUSION: The presence of atrial fibrillation and hypernatremia in patients diagnosed with NCSE should advise physicians of a high mortality risk.

An Atypical Manifestation of Mycobacterium tuberculosis Infection.

INTRODUCTION: Aortitis is seen in a wide variety of diseases. It was rarely found in the past but this is changing because of new imaging techniques. CASE DESCRIPTION: We present the case of a 45-year-old man who was found on thyroid ultrasound to have infrarenal aortitis and pathological lymphadenopathies in different locations. After an exhaustive diagnostic process, tuberculous aortitis, an infrequent manifestation of extrapulmonary tuberculosis, was diagnosed. The condition resolved after a 6-month course of antibiotics and a 6-week course of corticosteroids. CONCLUSION: Tuberculous aortitis is an atypical manifestation of Mycobacterium tuberculosis infection. The absence of typical symptoms and the difficulty of isolating the microorganism makes its diagnosis difficult. Therefore, clinical suspicion, microbiological tests and imaging are key for reaching the diagnosis and starting treatment for a serious disease that can cause aortic aneurysm and dissection. LEARNING POINTS: New imaging techniques can identify aortitis for the diagnosis of extrapulmonary Mycobacterium tuberculosis infection.The extrapulmonary manifestations of Mycobacterium tuberculosis infection are diverse and include aortitis.Prompt and accurate differentiation between infectious and non-infectious causes of aortitis determines which of two very different therapeutic paths should be followed and hence the prognosis of the patient.

Burn-out syndrome in Spanish internists during the COVID-19 outbreak and associated factors: a cross-sectional survey.

OBJECTIVES: The objective of this study is to evaluate the impact of the COVID-19 outbreak on mental health and burn-out syndrome in Spanish internists and the factors that could be related to its appearance. DESIGN: We performed an observational, cross-sectional, descriptive study for which we designed a survey that was distributed in May 2020. SETTING: We included internists who worked in Spain during the COVID-19 outbreak. PARTICIPANTS: A total of 1015 internists responded to the survey. Of those 62.9% were women. RESULTS: Of 1015 people, 58.3% presented with high emotional exhaustion, 61.5% had a high level of depersonalisation and 67.6% reported low personal fulfilment. 40.1% presented with the 3 criteria described, and therefore burn-out syndrome.Burn-out syndrome was independently related to the management of patients with SARS-CoV-2 (HR: 2.26; 95% CI 1.15 to 4.45), the lack of availability of personal protective equipment (HR: 1.41; 95% CI 1.05 to 1.91), increased responsibility (HR: 2.13; 95% CI 1.51 to 3.01), not having received financial compensation for overtime work (HR: 0.43; 95% CI 0.31 to 0.62), not having rested after 24-hour shifts (HR: 1.61; 95% CI 1.09 to 2.38), not having had holidays in the previous 6 months (HR: 1.36; 95% CI 1.01 to 1.84), consumption of sleeping pills (HR: 1.83; 95% CI 1.28 to 2.63) and higher alcohol intake (HR: 1.95; 95% CI 1.39 to 2.73). CONCLUSIONS: During the COVID-19 outbreak, 40.1% of Internal Medicine physicians in Spain presented with burn-out syndrome, which was independently related to the assistance of patients with SARS-CoV-2, overworking without any compensation and the fear of being contagious to their relatives. Therefore, it is imperative to initiate programmes to prevent and treat burn-out in front-line physicians during the COVID-19 outbreak.

Analysis of predisposing factors for the development of Clostridioides difficile infection recurrence.

AbstractThe purpose of this study is to evaluate the influence of several risk factors and, among them, the role of different types of antibiotics, in the development of the first recurrent episode of Clostridioides difficile (CD) infection. We performed a case control study from 2006 to 2016. We included patients admitted to the hospital with CD infection that received any antibiotic treatment during the year before the onset of the infection. First, we described the characteristics of CD infection in a Spanish third level hospital and then we compared first cases of CD infection that presented recurrence with those that did not. We included 110 cases, corresponding to 94 individuals. There were 14 first CD infection episodes that later presented recurrence (12.7%). Receiving more than 3 types of antibiotics during the year before the onset of symptoms was associated with higher risk of presenting a recurrent episode (OR = 4.69, 95% CI 1.01-21.78), as well as the past history of neoplasia (OR = 4.58, 95% CI 1.00-20.98). The number of previous hospital admissions was associated with the development of recurrences in the univariate study (p < 0.05). No differences were observed related to the type of antibiotic used immediately before the CD episode neither with the treatment received. The number of types of antibiotics used during the year before the first episode of CD infection or having a personal history of neoplasia was associated with 4 times higher risk of recurrent episodes. Type of antibiotic used did not show to influence recurrences.

Fusobacterium Nucleatum Empyema: An Atypical Presentation.

A 40-year-old man presented to the emergency room and was evaluated in the internal medicine department for unexplained weight loss, asthenia, anorexia and night sweats over the previous 2 months. After a loculated pleural effusion was identified on thoracic computed tomography, purulent fluid was drained from the lung and Fusobacterium nucleatum was isolated. The patient was successfully treated for 27 days with amoxicillin-clavulanic acid. This was an atypical presentation of a common micro-organism implicated in lung infections. LEARNING POINTS: Empyema due to Fusobacterium nucleatum can have an atypical presentation, manifesting only with unexplained weight loss and night sweats.F. nucleatum lung infection usually responds well to treatment with common antibiotics.In patients with unexplained weight loss, the differential diagnosis should include cancer, tuberculosis and atypical presentations of other bacterial infections.