Frequent Form Of Presentation Research Articles

#1475 Anti-neutrophil cytoplasmic antibodies (ANCA) associated vasculitis (AAV) with glomerulonephritis (AAV-GN) in real world life

Abstract Background and Aims Anti-neutrophil cytoplasmic antibodies (ANCA) associated vasculitis (AAV) with glomerulonephritis (AAV-GN) is a rare disease and the different treatment with plasma exchange are still controversial. We evaluate the AAV-GN outcomes of the last ten years in our centre. Method We retrospectively reviewed the clinical presentations and outcomes of AAV-GN patients in our centre between 2013-2022. We compared the presentation and prognosis according to the type of ANCA, serum creatinine (SCr) and the use of plasma exchange (PLEX). We included patients with AAV and kidney biopsy with at least 6 months of follow-up. Patients with positivity for both MPO and PR3, anti-GBM antibodies or did not meet inclusion criteria were excluded. Results Of 64 patients reviewed, 13 were excluded: 3 lack of follow-up, 3 absence of renal biopsy, 3 ANCA negative, and 4 concomitant anti-GBM antibodies. A total of 51 patients were included in the analysis (Table 1): 28 women (54.9%), age 66.75 ± 15.24 years, (64.7% over 65 years) and 44 (86.3%) with ANCA-MPO (+). Results comparing ANCA-MPO and PR3 in Table 1. The most frequent form of presentation was anaemia with haemoglobin 9.87 ± 2.04 mg/dL, acute kidney injury (AKI) AKIN III (39.2%), median SCr 2.78 (1.58-5.22) mg/dL, 41 (80.4%) with microhematuria, proteinuria 2.62 ± 2.7g/g, and 8 (15.7%) alveolar haemorrhage. 18 patients (25.3%) required hemodialysis, and 7 (13.5%) were transient (4 requiring <1 month). Rituximab was more used than cyclophosphamide (p < 0.001). Of the patients treated with plasma exchange (PLEX, n = 11), 6 (54.5%) had alveolar haemorrhage and/or 7 (63.6%) SCr>5.6 mg/dL, with no further infections or mortality at one year. Of the patients diagnosed with SCr>5.6 mg/dL, 9 (81.8%) were men (p = 0.008), 7 (63.6%) received PLEX (p < 0.001) and 6 (54.4%) died (p = 0.003). As expected, in the multivariate binary logistic regression SCr>5.6 at diagnosis was identified as independent risk factor for PLEX (p = 0.02, OR = 15.6 (95% CI 3.16-76.92). There were 13 deaths (25.5%), 6 in the first year after diagnosis. The most used maintenance treatment was MMF (52.9%), SCr and glomerular filtration rates at 2 years were 1.5 mg/dL and 45.36 mL/min/1.72 m² respectively. Conclusion The most common AAV-GN in our centre are ANCA-MPO+, and mainly affect people over 65 years of age, with rituximab being the most used treatment. ANCA-MPO+ patients have worse renal function at 18 months of follow-up. Mortality is higher in AAV-GN with serum creatinine greater than 5.6 mg/dL at diagnosis and in ANCA-MPO+. PLEX therapy is more used in cases of alveolar hemorrhage or severe renal involvement, without presenting an impact in our cohort in the incidence of infections or mortality at one year of follow-up.

Native Valve Infective Endocarditis Associated with Ruptured Right Sinus of Valsalva: A Case Report

Endocarditis is defined as an infection of the cardiac endothelium. The incidence occurs from 2 to 10 cases per 100,000 people/year. Cardiovascular complications, including cardiac arrest, cardiogenic shock, myocardial infarction, acute heart failure, and heart block. The case of a 51-year-old male patient with fever, asthenia, adynamia, and chills is presented, evolving to shock data to determine the origin, requiring management with vasopressor, a diagnostic protocol with transthoracic echocardiogram is performed where calcified aortic valve and mass attached to the valve ring and image suggestive of abscess at the level of the sinuses of Valsalva are observed. Transesophageal echocardiogram, in addition to the vegetation previously described and the abscess in the mitro-aortic continuity, tricuspid valve lesion with rupture of the sinus of Valsalva. Consultation was requested for cardiothoracic surgery with aortic valve replacement due to a N23 mechanical valve, with closure of the right sinus of Valsalva ruptured to the right ventricle infective endocarditis of the aortic and tricuspid valve with clinical improvement if any eventualities occurred. Rupture of the sinus of Valsalva with fistulization towards lower-pressure cavities (generally the right atrium and ventricle) is probably the most frequent form of presentation. Accurate diagnosis of complicated infective endocarditis means the difference between a good evolution and a poor prognosis.

Primary biliary cholangitis. Experience in 179 patients

Primary biliary cholangitis (PBC) is a chronic autoimmune cholestatic disease, which can progress to cirrhosis. It mainly affects middle-aged women. Its most frequent form of presentation is asymptomatic with biochemical cholestasis and the presence of antimitochondrial antibodies (AMA). To describe the epidemiological characteristics, clinical presentation and treatment for patients with PBC at a clinical hospital. Descriptive, observational, retrospective study, carried out between January 2015 and December 2020. 179 patients (158 women) were cared in the study period. At the time of diagnosis, the median age was 54 years (range 24-76), 55% of them were asymptomatic, 45% had fatigue and 28% had pruritus. Positive AMA were present in 65% of patients, antinuclear antibodies (ANA) in 51%, and anti-smooth muscle antibodies (ASMA) in 9%. Immunoglobulin M (IgM) was elevated in 30% of the patients and 50% of patients were biopsied. Splenomegaly and esophageal varices were present in 24 and 22% of patients, respectively. PBC was associated with Sjogren's syndrome in 15%, hypothyroidism in 14%, osteoporosis in 13%, and scleroderma in 8%. The epidemiological characteristics of our patients agree with those published abroad. Laboratory cholestasis associated with the presence of AMA, currently allows diagnosis without the need for histological study. Ursodeoxycholic acid (UDCA) is the first-line treatment for patients with PBC. The use of biochemical response criteria is essential to identify patients who require other UDCA alternatives for isolated or combined treatment.

Thyroid disorders associated with immune control point inhibitors

IntroductionImmune checkpoint inhibitors (ICPI) have improved progression-free survival in several solid tumors. Side effects are related to overstimulation of the immune system. Thyroid dysfunction (TD) is the most common endocrine immune-related adverse event of ICPI. ObjectiveTo describe the clinical presentation and the course of TD in cancer patients treated with ICPI referred to an endocrinology outpatient clinic. Material and methodsThis was a descriptive, retrospective and multicenter study of patients with TD associated with ICPI in six Spanish hospitals. Results120 patients (50.8% women), mean age 60 ± 12 years were included. The initial TD was hypothyroidism in 49% of patients and hyperthyroidism in 51%, with an average of 76 (41–140) and 43 (26–82) days respectively between the onset of ICPI and the analytical alteration. Significantly, the earlier the first analytical determination was, the greater the prevalence of hyperthyroidism. A turnover was observed in 80% of subjects during follow-up, mostly from hyperthyroidism to hypothyroidism. Twenty-one percent received double ICPI therapy. The most frequent form of presentation in monotherapy was hypothyroidism (57%), and in double therapy it was hyperthyroidism (77%) (p = 0.002). Patients under double therapy showed thyroid alterations earlier than those in the monotherapy group (p = 0.001). After a follow-up of 205 (112–360) days, half of the patients continued under levothyroxine treatment. ConclusionsHypothyroidism and hyperthyroidism present in a similar proportion in cancer patients undergoing ICPI therapy. Our results suggest that transitory hyperthyroidism may not be detected in a relevant number of cases. In addition, TD in double therapy presents earlier. This should be taken into account in the follow-up protocols of these patients.

Hemangiomas congénitos: serie de 14 casos

IntroductionCongenital hemangiomas (CH) are benign vascular tumors present at birth. Two types of CH are identified: RICH (rapidly involuting cogenital hemangioma) and NICH (noninvoluting, grows proportionally with the child). Regression of some CH is incomplete; these are known as PICH (partially involuting). ObjectiveTo describe a series of 14 cases of CH treated in our unit during the period 2016-2019, focusing on its clinical-evolutionary features. MethodologyObservational, descriptive retrospective study of cases of CH treated in a reference clinic. ResultsIn our case-series we found a similar incidence in both sexes, the mean age at the time of consult was 15.8 days, in two of the patients the diagnosis was retrospective. In one case, the diagnosis was prenatal. The most frequent form of presentation was an erythematous-violaceous tumor with telangiectasias and peripheral pallor. Followed by the erythematous-violaceous plaque. The most frequent location was in the upper limbs, followed by the head, upper back, thorax, thigh, abdomen and lower limb. Ten cases were classified as RICH, 3 cases as NICH, and in one case the patient did not continue to be followed up. Doppler ultrasound was performed on all patients that confirmed the diagnosis. None of the patients presented complications. Close clinical follow-up was performed, requiring no interventions. ConclusionsDiagnosis of CH is clinical-echographic. Treatment is indicated when there are complications, with clinical follow-up being the most recommended course of action.

Divertículo de Meckel como causa de obstrucción intestinal

Meckel’s diverticulum is the commonest congenital anomaly of the gastrointestinal tract. It occurs due to fibrous degeneration of the umbilical end of the omphalomesenteric duct. Its diagnosis is usually incidental, but in approximately a third of cases, it produces symptoms due to complications. One of them is small bowel obstruction, which is the second most frequent form of presentation, so the knowledge of embryology, anatomy, clinical presentation and its imaging findings are important in order to perform a correct surgical treatment.

Linfoma anaplásico de grandes células associado a implante mamário: uma revisão narrativa

Objetivo: Realizar uma revisão narrativa atualizada acerca do Linfoma Anaplásico de Grandes Células Associado ao Implante Mamário (BIA-ALCL), por meio de discussões em torno das principais questões que envolvem a doença. Ademais, visa propagar informações que auxiliem médicos e estudantes da área a reconhecerem possíveis manifestações da neoplasia, bem como a atuarem no manejo de casos suspeitos. Revisão bibliográfica: O BIA-ALCL é um tipo de linfoma raro associado à texturização de implantes mamários. Entretanto, diante do elevado e crescente número de cirurgias estéticas e reconstrutivas realizadas no contexto brasileiro e mundial, a doença adquire relevância notável na prática médica. Sua forma de apresentação mais frequente ocorre tardiamente à colocação da prótese e pode ser diagnosticada por meio da ultrassonografia, com tratamento geralmente baseado na remoção cirúrgica do implante juntamente à cápsula fibrosa. Considerações finais: O artigo buscou reunir evidências acerca da neoplasia para que aspectos relativos ao tema fossem elucidados, incluindo aqueles referentes a discussão médico-paciente sobre os riscos relacionados aos implantes texturizados, bem como à necessidade de acompanhamento periódico com o profissional.

Alteraciones tiroideas asociadas con los inhibidores de los puntos de control inmunitario

IntroductionImmune checkpoint inhibitors (IPCI) have improved progression-free survival in several solid tumors. Side effects are related to overstimulation of the immune system. Thyroid dysfunction (TD) is the most common endocrine immune-related adverse event of IPCI. ObjectiveTo describe the clinical presentation and the course of TD in cancer patients treated with IPCI referred to an endocrinology outpatient clinic. Material and methodsThis was a descriptive, retrospective and multicenter study of patients with TD associated with IPCI in six Spanish hospitals. Results120 patients (50.1% women), mean age 60 ± 12 years were included. The initial TD was hypothyroidism in 49% of patients and hyperthyroidism in 51%, with an average of 76 (41-140) and 43 (26-82) days respectively between the onset of IPCI and the analytical alteration. Significantly, the earlier the first analytical determination was, the greater the prevalence of hyperthyroidism. A turnover was observed in 80% of subjects during follow-up, mostly from hyperthyroidism to hypothyroidism. Twenty-one percent received double IPCI therapy. The most frequent form of presentation in monotherapy was hypothyroidism (57%), and in double therapy it was hyperthyroidism (77%) (p = 0.002). Patients under double therapy showed thyroid alterations earlier than those in the monotherapy group (p = 0.001). After a follow-up of 205 (112-360) days, half of the patients continued under levothyroxine treatment. ConclusionsHypothyroidism and hyperthyroidism present in a similar proportion in cancer patients undergoing ICPI therapy. Our results suggest that transitory hyperthyroidism may not be detected in a relevant number of cases. In addition, TD in double therapy presents earlier. This should be taken into account in the follow-up protocols of these patients.

Transthyretin Cardiac Amyloidosis: Patient Characteristics in Our Region

Introduction Transthyretin cardiac amyloidosis (ATTR) is an increasingly recognized cause of heart failure (HF). The prevalence is not exactly known and a significant underdiagnosis is suspected. The objective of our study is to identify the characteristics of patients with this diagnosis in our region. Methods Prospective single-center study that included all patients (p) with cardiac ATTR diagnosis from March 2016 to January 2020. Clinical, analytical and diagnostic imaging data were collected. Results 44p were included with cardiac ATTR diagnosis confirmed by 99mTc-DPD scintigraphy (84% with intense cardiac 99mTc-DPD uptake and 16% moderate). The mean age at diagnosis was 83 years, 77% were men and 52% were in atrial fibrillation. The most frequent form of presentation was HF (61% of patients) and left ventricular hypertrophy (32%). Only 7% was a casual finding. The mean left ventricular ejection fraction was 53%, the mean thickness of the interventricular septum was 16.5 mm and the posterior wall was 13.5 mm. Only 4.5% of the cases presented signs of obstruction. Aortic stenosis was present in 25% of patients, being severe in 11% of cases. The left ventricular myocardial deformation or strain pattern was analyzed by echocardiogram in 29 patients (64%) and 97% of the patients had a compatible pattern with amyloidosis. A genetic study was performed in 68% of the individuals (30p) and 98% had the natural or wild-type form of the disease. All patients aged 80 years or older had no mutations in the TTR gene. The only patient with a familial form was diagnosed at age 76. During a median follow-up of 14 months 77% of patients had or developed HF symptoms, 57% in NYHA functional class II. 6 patients (13.5%) died during follow-up (18.5% with diagnosis due to HF and 7.1% with diagnosis due to left ventricular hypertrophy, p = 0.47). Conclusions Left ventricular myocardial strain assessment by echocardiogram is the initial diagnostic technique that provides the most value when suspecting cardiac ATTR amyloidosis. In our series the genetic study provides little value in patients older than 80 years with a compatible echocardiogram and 99mTc-DPD scintigraphy.

Metabolic risk factors in children with kidney stone disease: an update.

The prevalence of kidney stones in children has significantly increased in the past few decades, with concomitant increased morbidity and healthcare costs worldwide. Assessing metabolic risk factors is essential for diagnosis and specific treatment. The objective of this retrospective study is to identify the epidemiological and clinical characteristics of children under 17years of age, as well as the metabolic risk factors of nephrolithiasis. A total of 300 children with kidney stone disease were included to undergo several clinical tests using a standardized protocol. The mean age was 11.2years, and the male:female ratio was 1.15:1.0. Biochemical abnormalities were found in 89.3% of all cases. A single urine metabolic risk factor was present in 52.6% (n = 141) of the patients, and multiple risk factors were present in 36.7% (n = 106). Idiopathic hypercalciuria (alone or in combination) and hypocitraturia (alone or in combination) were the most frequent risk factors identified in 47.0% and 39.6% of these patients, respectively. Renal colic and/or unspecified abdominal pain were the most frequent forms of presentation (76.9%), followed by hematuria in 64.4% with 97.5% of stones located in the upper urinary tract. A positive family history in first-degree and second-degree relatives was found in 64.8% of boys and 61.8% of girls. We conclude that specific urinary metabolic risk factors can be found in most children with kidney stones, with hypercalciuria and hypocitraturia being the most common diagnoses. Graphical abstract .

P0426HISTOLOGICAL PREDICTORS OF RENAL PROGNOSIS IN LUPUS NEPHRITIS: WHICH COMPARTMENT MAKES THE DIFFERENCE?

Abstract Background and Aims Lupus nephritis (LN) encompasses a spectrum of glomerular, tubulointerstitial, and vascular lesions; we aimed to evaluate which compartment injury has renal prognostic value. Method We retrospectively examined the renal outcome at 31 December 2015 of 66 patients (age 36 [28-52] years; 76% female; eGFR at baseline 60.8 [24.4-78.1] mL/min) who were diagnosed with lupus nephritis by kidney biopsy during 2010-2015. Data regarding the clinical presentation, renal function, histology (presence/absence of lesions - Table 1; ISN/RPS classification) and treatment were retrieved from the electronic patients’ files. We used a composite endpoint in the survival analysis (Cox proportional hazard models, CPH): renal replacement therapy initiation, doubling of serum creatinine and death, whichever came first. Results Nephrotic syndrome was the most frequent form of presentation (42%), followed by nephritic (24%) and nephrotic-nephritic (15%). Most of the patients received immunosuppression treatment (97%, 70% cyclophosphamide regimen). Twenty-five patients (38%) reached the composite endpoint. They were older, male more often, had higher mean arterial pressure (MAP), lower serum albumin, decreased eGFR and higher proteinuria. Moreover, they were in class IV LN and had glomerulosclerosis more frequently. Median renal survival for the entire cohort was 4.4 (95%CI, 2.3-6.5) years. In the multivariatle CPH for the histological predictors, only ISN/RPS classification and tubular atrophy were associated with renal survival (Table 1). In a CPH that included clinical, histological and treatment variables, only lower eGFR (0.97 (95%CI, 0.95-0.99)), MAP (1.03 (95%CI, 1.00-1.06)) and tubular atrophy (4.52 (95%CI, 1.50-13.55)) remained as independent predictors of renal survival. Conclusion Tubular atrophy seems to be an important prognostic sign in LN; therefore, greater importance should be given to the tubulointerstitial compartment evaluation.

P1824RETROSPECTIVE STUDY FOR THE ANALYSIS AND EVOLUTION OF RENAL FUNCTION IN A COHORT OF PATIENTS AFFECTED BY THE NEPHRONOPHTHISIS COMPLEX

Abstract Background and Aims Determine evolution of renal function in nephronophthisis patient cohort, prognosis and variability of clinical presentation. Method Retrospective observational study to determine evolution of renal function in our cohort(n=13) between 4.5-20 years affected by different syndromes associated with nephronophthisis complex in last 20 years. We compared clinical-analytical parameters to diagnosis with current ones, including needs for kidney transplantation and results of genetics. Results Chronic-Kidney-Disease (CKD) prevalence at diagnosis was between 0.9-8.5 years (mean 5.3 years), staging of CKD was: 30.7% stage 2, 15.38% stage 3a and 1 patient stage 3b. 23.07% in stages 4 and 5. 69.23% needs first kidney transplantation and even a second one 15.38%. The average age at first transplantation was 6.04 years(2-11.67 years). The mean age to enter in renal replacement therapy program was 1.3 years(0.1-3.67 years). Among non-transplant, from diagnosis to present its being 0.5-7.25 years(median, 4.24 years). Most frequent symptom at the onset of the disease was delay in weight gain and height(84.61%) and also in cognitive development(53.84%), followed by polyuria-polydipsia(46.15%) and other signs/symptoms such as ataxia, pigmentary retinitis, hepatic insufficiency or skeletal alterations. In fact, in up to 54% of cases, renal involvement was a casual finding. Even with this, the most frequent form of presentation was purely renal(38.46%), followed by Joubert's Syndrome(30.77%), RHYNS(15.38%), Senior-Loken(7.7%) and Maizner-Saldino(7.7%). Currently, calculated glomerular filtration rate ranges between30.2-90.21 ml/min/1.73 m2 among recipient, with majority in the CKD stages: 3a(56%) and in between 30-128 ml/min/1.73 m2 among non-transplant patients, with predominance CKD 2 (50%). Conclusion The prognosis of renal function in the short-medium term in nephronophthisis is unfortunate. The possible initial symptomatic renal silence, the need (>50%) of multidisciplinary management and the frequency of CKD advanced to the diagnosis make necessary the knowledge of the disease and its possible associations, as well as its active search.

P0387PATHOLOGICAL FEATURES AND CLINICAL COURSE OF LATE-ONSET LUPUS NEPHRITIS

Abstract Background and Aims It has been described that the early onset of lupus nephritis (LN) at a young age can determine the clinical course and outcome of the disease, being more aggressive with a higher mortality rate. However, no studies have explored the influence of age at onset of the disease in European cohorts of LN patients, neither have they analyzed treatment outcomes depending on age at presentation. Therefore, the aim of our study was to compare the clinical and histological characteristics of patients with late-onset LN compared to those with an onset at a younger age. Method We performed a retrospective observational study of biopsy-proven LN diagnosed between 1981 and 2018. Patients were stratified according to their age at presentation of LN, considering an onset with >50 years old as late-onset. Demographic, clinical and serological data at presentation of systemic lupus and LN, during and at the end of follow-up, as well as extrarenal manifestations, histological characteristics of the kidney biopsy, clinical course, received treatment regimens and related adverse effects were registered. Results 85 LN patients were included in the study, 10 of whom had late-onset LN (11.7%). Late-onset LN patients presented significantly higher serum C3 and C4 levels at the time of kidney biopsy (92.8 ± 22.4 mg/dl vs 62.5 ± 25.7 mg/dl, p=0.002, and 18.6 ± 5.0 vs. 9.3±5.8 mg/dl, p<0.001 respectively), and had lower eGFR measured by CKD-EPI (58.50±19.79 vs 90.41±30.53,p=0.003), a higher frequency of serositis manifestations (53.45% vs 17.46%, p=0.034), predominantly pleuritis (79.37% vs 51.75% p=0.013). Early-onset LN had predominantly Class IV LN (50% vs 10%, p=0.017), whereas in late-onset LN the most frequent type was Class V LN (50% vs 21.3%, p=0.048). Tubular atrophy was more common in late-onset LN (75% vs 34.9%, p=0.035). The group of patients with late-onset LN achieved complete clinical remission more frequently (87.5% vs 57.1%), but there were no differences in relapses between the groups. No differences were found in treatment regimens among the groups. Late-onset LN patients were more seronegative (100% vs 61.3%, p=0.015) at the end of follow-up. Severe infectious complications related to immunosuppression were significantly higher in late-onset LN patients (62.5% vs 22.2%, p=0.027) Conclusion Late-onset LN has a milder complement consumption at presentation compared to early-onset, and Class V LN is its most frequent form of presentation. Complete renal remission is more frequently achieved in late-onset LN compared to those with an early-onset, but present more adverse events associated with immunosuppression, particularly infectious complications.

Clinical- epidemiological characteristics and predictors of coronary complications in children of Argentina with Kawasaki disease

Kawasaki disease (EK) is an acute systemic vasculitis with a risk of developing coronary aneurysms. To describe the clinical and epidemiological characteristics of children with EK in Argentina and to analyse the risk factors for the development of coronary's complications (CC). Multicenter, retrospective, cross-sectional, observational and analytical study. It included patients younger than 18 years of age diagnosed with EK in hospitals in Argentina, between January the 1st, 2010 and December the 31th, 2013. N = 193 subjects. Age: medium: 29 months. Total incidence 5 cases / 10,000 hospital discharges. CC was observed in 15.5% of patients. Increased risk factors for CC: Elevated number of days with fever at the time of treatment placement (p = 0.0033); Increased of: heart frequency (p = 0.0021), erythrosedimentation (ESR) (p = 0.005), C-reactive protein (CRP) (p < 0.0001), leukocytes (p = 0.0006), neutrophils (p = 0.0021); Decreased of hematocrit (p = 0.0007) and hemoglobin (p < 0.0001).Association with CC: non-coronary cardiological alterations (OR = 10,818); PCR greater than 68 mg /L (OR = 11,596); leukocytes greater than 20,000 / mm3 (OR = 4.316); and ESR greater than 64 mm / 1 hour (OR = 4.267). The most frequent form of presentation was complete EK, the risk of CC was higher in males, younger than 5 years old, the risk factors (clinical and laboratory) were similar to those described in the literature.

Late-onset thymidine kinase 2 deficiency: a review of 18 cases

BackgroundTK2 gene encodes for mitochondrial thymidine kinase, which phosphorylates the pyrimidine nucleosides thymidine and deoxycytidine. Recessive mutations in the TK2 gene are responsible for the ‘myopathic form’ of the mitochondrial depletion/multiple deletions syndrome, with a wide spectrum of severity.MethodsWe describe 18 patients with mitochondrial myopathy due to mutations in the TK2 gene with absence of clinical symptoms until the age of 12.ResultsThe mean age of onset was 31 years. The first symptom was muscle limb weakness in 10/18, eyelid ptosis in 6/18, and respiratory insufficiency in 2/18. All patients developed variable muscle weakness during the evolution of the disease. Half of patients presented difficulty in swallowing. All patients showed evidence of respiratory muscle weakness, with need for non-invasive Mechanical Ventilation in 12/18. Four patients had deceased, all of them due to respiratory insufficiency. We identified common radiological features in muscle magnetic resonance, where the most severely affected muscles were the gluteus maximus, semitendinosus and sartorius. On muscle biopsies typical signs of mitochondrial dysfunction were associated with dystrophic changes. All mutations identified were previously reported, being the most frequent the in-frame deletion p.Lys202del. All cases showed multiple mtDNA deletions but mtDNA depletion was present only in two patients.ConclusionsThe late-onset is the less frequent form of presentation of the TK2 deficiency and its natural history is not well known. Patients with late onset TK2 deficiency have a consistent and recognizable clinical phenotype and a poor prognosis, due to the high risk of early and progressive respiratory insufficiency.

Spinal extradural angiolipomas: 7 new cases and review of the literature

IntroductionWe present our experience with the diagnosis and treatment of spinal angiolipomas (SAL). MethodsWe used our database of surgical patients to gather epidemiological, clinical, diagnostic, treatment, and follow-up data from confirmed cases of SAL. Patients’ functional status was evaluated using the modified Japanese Orthopaedic Association (mJOA) score for thoracic myelopathy. ResultsWe included 7 patients with ages ranging between 42 and 63 years; 4 were women. Lesions in all patients were located in the thoracic epidural space; in 2 cases, lesions extended outside the spinal canal. The most frequent form of presentation was pain combined with progressive myelopathy; patients scored 5 to 9 points on the mJOA scale. Radiological findings varied; this variability clearly depended on the proportion of tumour components (cellular variant in one case, predominantly angiomatous in another, and myxoid in yet another case). Four cases displayed radiological signs of bone involvement. Surgery resulted in excellent mJOA scores except in one case (mJOA score of 10); no recurrences were detected during follow-up (periods ranging from 1 to 5 years). ConclusionsExtradural SAL can present with highly variable radiological and clinical features. Surgery must be tailored to each individual situation according to tumour extension; in some cases, it may include spinal reconstruction. Surgery results in excellent outcomes regardless of preoperative functional status and it is associated with low recurrence rates, even in case of incomplete resection.

Persistencia de conducto onfalomesenterico permeable

The persistence of permeable omphalomesenteric duct is one of the less frequent forms of presentation, within the pathology, of the embryonic remnants derived from this duct. We present the case of a 30-day-old infant who is diagnosed with permeable omphalomesenteric duct, and resective surgery is performed, with a good postoperative evolution and with home discharge at 8 days. The embryology data as well as the pathology, the clinical presentation, the differential diagnoses and the therapeutic options are reviewed.

Localized histoplasmosis during treatment with adalimumab

Background: Histoplasmosis is an opportunistic systemic micosis. In Argentina, the basin of the Río de la Plata is the most prevalent área. Lung involvement is the most frequent form of presentation and most patients have disseminated at the time of diagnosis, being the extrapulmonary manifestation exceptional. In immunosuppressed individuals both infected with human immunodeficiency virus and those treated with biological agents increased risk of developing disseminated histoplasmosis with severe symptoms that can lead to death. Methods & Materials: He was treated with methotrexate (Mtx) until July 2013, with remission and subsequent suspension of medication. He presented joint regrowth in January 2014, for which he restarted treatment. In September 2015, he presented uveitis, which is why he started treatment with Adalimumab (anti-TNF); being clinically inactive in April 2016. In July 2017, the patient complained of granulomatous formation on the hard palate and tumor in the right nostril, without general symptoms. Results: Metotrexate and adalimumab were discontinued. Magnetic resonance of the facial massif was performed, demonstrating the presence of an inflammatory lesion on the hard palate without bone invasion. As for the nasal mass, it was recognized as a polypoid formation arising from one of the turbinates. Chest and abdominal scans were normal. In August of 2017, surgery was performed on both lesions. The microbiological culture of the lesion was negative for common bacteria and mycobacteria. In the mycological culture, Histoplasma capsulatum was isolated. Treatment was carried out with itraconazole. Conclusion: Therapy with tumor necrosis factor blockers has revolutionized the treatment of various autoimmune disorders, but the Histoplasmosis can complicate the treatment, Worldwide, in the pediatric population, there are no published cases of presentation with granulomatous compromise on the hard palate associated with nasal polypoid mass in the absence of disseminated disease and pulmonary compromised

Q fever in Spain: Description of a new series, and systematic review.

BackgroundForms of presentation of Q fever vary widely across Spain, with differences between the north and south. In the absence of reported case series from Galicia (north-west Spain), this study sought to describe a Q-fever case series in this region for the first time, and conduct a systematic review to analyse all available data on the disease in Spain.MethodsPatients with positive serum antibodies to Coxiella burnetii from a single institution over a 5-year period (January 2011-December 2015) were included. Patients with phase II titres above 1/128 (or documented seroconversion) and compatible clinical criterial were considered as having Q fever. Patients with clinical suspicion of chronic Q-fever and IgG antibodies to phase I-antigen of over 1/1024, or persistently high levels six months after treatment were considered to be cases of probable chronic Q-fever. Systematic review: We conducted a search of the Pubmed/Medline database using the terms: Q Fever OR Coxiella burnetii AND Spain. Our search yielded a total of 318 studies: 244 were excluded because they failed to match the main criteria, and 41 were discarded due to methodological problems, incomplete information or duplication. Finally, 33 studies were included.ResultsA total of 155 patients, all of them from Galicia, with positive serological determination were located during the study period; 116 (75%) were deemed to be serologically positive patients without Q fever and the remaining 39 (25%) were diagnosed with Q fever. A potential exposure risk was found in 2 patients (5%). The most frequent form of presentation was pneumonia (87%), followed by isolated fever (5%), diarrhoea (5%) and endocarditis (3%). The main symptoms were headache (100%), cough (77%) and fever (69%). A trend to a paucisymptomatic illness was observed in women. Hospital admission was required in 37 cases, and 6 patients died while in hospital. Only 2 patients developed chronic Q-fever. Systematic review: Most cases were sporadic, mainly presented during the winter and spring, as pneumonia in 37%, hepatitis in 31% and isolated fever in 29.6% of patients. In the north of Spain, 71% of patients had pneumonia, 13.2% isolated fever and 13% hepatitis. In the central and southern areas, isolated fever was the most frequent form of presentation (40%), followed by hepatitis (38.4%) and pneumonia (17.6%). Only 31.7% of patients reported risk factors, and an urban-environment was the most frequent place of origin. Overall mortality was 0.9%, and the percentage of patients with chronic forms of Q-fever was 2%.ConclusionsThis is the first study to report on a Q-fever case series in Galicia. It shows that in this region, the disease affects the elderly population -even in the absence of risk factors- and is linked to a higher mortality than reported by previous studies. While pneumonia is the most frequent form of presentation in the north of the country, isolated fever and hepatitis tend to be more frequent in the central and southern areas. In Spain, 32% of Q-fever cases do not report contact with traditional risk factors, and around 58% live in urban areas.

Evolution of Reproductive Disorders Related to Celiac Disease under Gluten-free Diet

Introduction: Celiac disease (CD) is an autoimmune enteropathy induced by the ingestion of gluten (wheat, barley, rye). The classical form has become a minority. Currently, the most frequent forms of presentation are extradigestive with various manifestations, among others, reproductive disorders. The aim of our study is to assess the frequency of these disorders in CD and their evolution under gluten-free diet (GFD). Materials and methods: Descriptive retrospective study of 173 patients with CD followed in the department of diseases of the digestive tract Medecine C of the Ibn Sina Hospital in , over a period of 18 years. Result: In 173 patients with CD, 58 patients (28,9%) had reproductive disorders. There are 53 women and 5 men. The average age was 32,25 years. The diagnosis of CD is based on histology and serology. The Reproductive problems were never isolated but always associated with other digestive or extra-digestive signs at the time of diagnosis of CD. These disorders are represented by: delayed puberty in 11 patients (19%), secondary amenorrhea in 13 patients (22.4%), irregular menstrual in 12 patients (20.6%), absence of development of secondary sex characteristics in 8 patients (12.5%), spontaneous abortions in 7 patients (10.9%), menometrorrhagia in 4 patients (13.8%), primary sterility in 5 patients (8.6%), early menopause in 6 patients (10.3%), premature delivery in 3 patients (5%), primary amenorrhea in 2 patients (3.4%) and intrauterine fetal death in one case (1.7%). All our patients have had a GFD. 15 patients lost to follow-up, two patients died and 12 patients undergoing follow-up. The remaining 29 patients, the evolution of reproductive disorders under GFD was favorable in 26 patients (90%), with the normalization of cycles in 15 patients, resumption of cycles in 6 patients, development of secondary sex characteristics in 2 patients, fertility resumption in one case, initiation of cycles after primary amenorrhea in one case and delivery of a newborn at term after premature deliveries in one case. The evolution was unfavorable in 3 patients with the notion of miscarriage 4 years after the start of the GFD in one patient and the absence of cycle resumption in two patients. Conclusion: The reproductive disorders associated with CD are frequent and varied. In our study, these disorders responded very well under a GFD, conducted in 90% of patients. These disorders are thus reversible under this diet.