Identification of a 0.4 Kb deletion region in 10q26 associated with endometrial carcinoma

We have identified an allelic deletion common region in the q26 region of chromosome 10 in endometrial carcinomas, which has been reported previously as a potential target of genetic alterations related to this neoplasia. An allelotyping analysis of 19 pairs of tumoral and non-tumoral samples was accomplished using seven microsatellite polymorphic markers mapping in the 10q26 chromosomal region. Loss of heterozygosity for one or more loci was detected in 29% of the endometrial carcinoma samples. The observed pattern of loss enabled the identification of a 3.5 Mb common deleted region located between the D10S587 and D10S186 markers. An additional result from an endometrial sample with evidence of a RER phenotype may suggest a more centromeric region of loss within the above-mentioned interval. This 401.84 Kb interval flanked by the D10S587 and D10S216 markers may be a plausible location for a putative suppressor gene involved in early stage endometrial carcinogenesis

a case report

publishersversionpublishe

Thyrotoxicosis leading to adrenal crises reveals primary bilateral adrenal lymphoma

Primary adrenal lymphoma is a rare malignancy. It frequently presents bilaterally and with symptoms of adrenal insufficiency. Amiodarone may induce secondary organ dysfunction, and thyrotoxicosis develops in 15% of cases. The symptomatology of both conditions is nonspecific, especially in the elderly, and a high suspicion index is necessary for appropriate diagnosis. A 78-year-old female presented to the emergency department with confusion, nausea and vomiting. She had recently been to the emergency department with urinary tract infection, vomiting and acute hypochloremic hyponatremia. Upon re-evaluation, the leukocyturia persisted and because of TSH 0.01 μU/mL and free-T4 68 (10–18) pmol/L, she was admitted to the Endocrinology ward. Further evaluation supported amiodarone-induced thyroiditis type 2. Sepsis ensued, in the setting of nosocomial pneumonia. Hemodynamic instability, hyponatremia, hypoglycemia and vomiting raised the suspicion of adrenocortical insufficiency. Fluid resuscitation and hydrocortisone led to clinical improvement, and adrenal insufficiency was admitted. The thoracoabdominal tomography suggested an endobronchic primary lesion with hepatic and adrenal secondary deposits (6.6 and 7 cm), but this was confirmed neither on pleural effusion nor on bronchofibroscopic fluid analyses. The adrenals were not accessible for biopsy. Despite high-dose hydrocortisone maintenance, the patient died before definite diagnosis. The autopsy confirmed primary non-Hodgkin lymphoma

Fibrosis of Peritoneal Membrane, Molecular Indicators of Aging and Frailty Unveil Vulnerable Patients in Long-Term Peritoneal Dialysis

Funding: Sociedade Portuguesa de Nefrologia (SPN) SPN funded a project and Ana Rita Martins, MD, Nephrology fellow, for a residence at Jiménez Díaz Foundation University Hospital, Madrid under the scope of novel serum biomarkers of CKD. iNOVA4Health research program (UIDP/04462/2020) is also acknowledged to support J.M.Peritoneal membrane status, clinical data and aging-related molecules were investigated as predictors of long-term peritoneal dialysis (PD) outcomes. A 5-year prospective study was conducted with the following endpoints: (a) PD failure and time until PD failure, (b) major cardiovascular event (MACE) and time until MACE. A total of 58 incident patients with peritoneal biopsy at study baseline were included. Peritoneal membrane histomorphology and aging-related indicators were assessed before the start of PD and investigated as predictors of study endpoints. Fibrosis of the peritoneal membrane was associated with MACE occurrence and earlier MACE, but not with the patient or membrane survival. Serum α-Klotho bellow 742 pg/mL was related to the submesothelial thickness of the peritoneal membrane. This cutoff stratified the patients according to the risk of MACE and time until MACE. Uremic levels of galectin-3 were associated with PD failure and time until PD failure. This work unveils peritoneal membrane fibrosis as a window to the vulnerability of the cardiovascular system, whose mechanisms and links to biological aging need to be better investigated. Galectin-3 and α-Klotho are putative tools to tailor patient management in this home-based renal replacement therapy.publishersversionpublishe

Chronic constrictive pericarditis: a rare cardiac involvement in primary Sjögren’s syndrome

Abstract Background Constrictive pericarditis represents a chronic condition and systemic inflammatory diseases are a known, yet uncommon, cause. Pericardial involvement is seldom reported in primary Sjögren’s syndrome, usually occurring in association with pericardial effusion or pericarditis. We report a case of constrictive pericarditis with an insidious course and unusual evolution associated with primary Sjögren’s syndrome. Due to the challenging nature of the diagnosis, clinical suspicion and multimodality imaging are essential for early identification and prompt initiation of treatment. Long-term outcomes remain uncertain. To the best of our knowledge, no other cases linking this autoimmune disease to constrictive pericarditis have been reported. Case presentation We present the case of a 48-year-old male patient with moderate alcohol habits and a history of two prior hospitalizations. On the first, the patient was diagnosed with primary Sjögren’s syndrome after presenting with pleural effusion and ascites, and empirical corticosteroid regiment was initiated. On the second, two-years later, he was readmitted with complaints of dyspnea and abdominal distension. Thoracic computed tomography revealed a localized pericardial thickening and a thin pericardial effusion, both of which were attributed to his rheumatic disease. A liver biopsy showed hepatic peliosis, which was considered to be a consequence of glucocorticoid therapy. Diuretic therapy was adjusted to symptom-relief, and a tapering corticosteroid regimen was adopted. Four years after the initial diagnosis, the patient was admitted again with recurrent dyspnea, orthopnea and ascites. At this time, constrictive pericarditis was diagnosed and a partial pericardiectomy was performed. Although not completely asymptomatic, the patient reported clinical improvement since the surgery, but still with a need for baseline diuretic therapy. Conclusion Albeit uncommon, connective tissue disorders, such as primary Sjögren’s syndrome, should be considered as a potential cause of constrictive pericarditis, especially in young patients with no other classical risk factors for constriction. In this case, after excluding possible infectious, neoplastic and autoimmune conditions, a primary Sjögren´s syndrome in association with constrictive pericarditis was assumed. This case presents an interesting and challenging clinical scenario, highlighting the importance of clinical awareness and the use of multimodal cardiac imaging for early recognition and treatment

Atypical essential thrombocythemia with leukocytosis, positive JAK2V617F mutation and BCR/ABL translocation and a normal karyotype

Poster apresentado no 7th International Conference on Myeloproliferative Neoplasms / European School of Haematology. 27-29 October 2016, Estoril, PortugalN/

IGA nephropathy – Are intravenous steroid pulses more effective than oral steroids in relapse prevention?

Introduction: It is recommended that IgA nephropathy (IgAN) is treated with steroids when the glomerular filtration rate (GFR) is >50 ml/min and proteinuria >1 g/day. Few studies have been performed comparing the two accepted steroid regimens (1 g/day methylprednisolone pulses for 3 consecutive days at the beginning of months 1, 3 and 5, followed by 0.5 mg/kg prednisolone on alternate days vs. 1 mg/kg/day oral prednisolone). The aim of this study was to compare these two steroid regimens in IgAN treatment. Methods: We selected 39 patients with biopsy-proven IgAN treated with steroids. Mean age at diagnosis was 37.5 years, 23 males (59%), baseline proteinuria (Uprot) was 2.1 g/day and median serum creatinine (SCr) was 1.5 mg/dl. The mean follow-up period was 56 months. Twenty-five patients (64%) were treated with methylprednisolone pulses and 14 (36%) with oral steroids. Results: Patients treated with steroid pulses presented lower relapse risk, defined as the reappearance of Uprot >1 g/day and an Uprot increase of more than 50% (incidence rate ratio of 0.18, 95% CI 0.02–0.5). The Kaplan–Meier analysis showed longer relapse-free period (p = 0.019). This result was confirmed in a multivariate analysis (p = 0.026). However, we did not find other differences between the two steroid regimens. Conclusions: In comparison to oral steroids, the intravenous pulse regimen was associated with a lower risk of relapse in IgAN, a known independent negative predictor of renal survival. No differences were found regarding the other renal outcomes. Resumen: Introducción: Se recomienda el tratamiento de la nefropatía por IgA (NIgA) con esteroides cuando el índice de filtración glomerular (IFG) > 50 ml/min y proteinuria > 1 g/día. Pocos han sido los estudios realizados comparando los 2 esquemas de esteroides aceptados (1 g/día de metilprednisolona en pulsos durante 3 días consecutivos en el principio de los meses 1, 3 y 5 seguido de 0,5 mg/kg en días alternos de prednisolona vs. 1 mg/kg/día de prednisolona oral). El objetivo de este estudio fue comparar estos 2 esquemas de esteroides en el tratamiento de la NIgA. Métodos: Fueron seleccionados 39 pacientes con NIgA demostrada por biopsia y tratados con esteroides. La edad media al diagnóstico fue de 37,5 años, 23 varones (59%), proteinuria basal (Uprot) 2,1 g/día y la creatinina sérica mediana (SCR) 1,5 mg/dl. El periodo medio de seguimiento fue de 56 meses. Veinticinco de los pacientes (64%) fueron tratados con pulsos de metilprednisolona y 14 (36%) con esteroides orales. Resultados: Los pacientes tratados con pulsos de esteroides presentan menor riesgo de recaída, definido como la reaparición de una Uprot > 1 g/día y aumento de más del 50% de la Uprot (razón de tasa de incidencia: 0,18; IC 95%: 0,02-0,5) y el Kaplan-Meier mostró período más largo libre de recaída (p = 0,019). Este resultado se confirmó en un análisis multivariante (p = 0,026). Sin embargo, no se encontraron otras diferencias entre los esquemas de esteroides. Conclusiones: En comparación con los esteroides orales, el esquema en pulsos intravenosos se relacionó con un menor riesgo de recaída en la NIgA, un conocido predictor negativo independiente de la supervivencia renal. No se encontraron diferencias en cuanto a los otros outcomes renales. Keywords: IgA nephropathy, Steroid regimens, Renal survival, Palabras clave: Nefropatía por IgA, Esquemas de esteroides, Supervivencia rena

Carcinoma da tiroide: incidental e não incidental

ResumoIntroduçãoO aumento da incidência do carcinoma da tiroide pode ser consequência de um aumento da deteção de doença subclínica. O objetivo deste estudo foi comparar as características clínico‐patológicas do carcinoma da tiroide diagnosticado incidentalmente, na análise histológica, com o carcinoma com citologia prévia sugestiva.MétodosAnálise retrospetiva dos processos clínicos de 102 doentes com carcinoma da tiroide. O grupo I, constituído por 69 doentes diagnosticados de forma não incidental, foi comparado com o grupo II, constituído por 33 doentes diagnosticados de forma incidental.ResultadosA idade média foi 51,5 e 56,6 anos nos grupos I e II, respetivamente (p=0,10). Houve maior prevalência do sexo feminino, sendo do sexo masculino 18,8% doentes do grupo I e 12,1% do grupo II (p=0,39). A tiroidite de Hashimoto foi diagnosticada em 21,7 e 15,2% de doentes nos grupos I e II, respetivamente (p=0,53). O carcinoma papilar foi o mais frequente (87,0% no grupo I e 97,0% no grupo II). Na classificação TNM, ambos os grupos apresentaram percentagens semelhantes no estádio III (I 21,7% e II 21,2%). Não existiu diferença estatisticamente significativa na dimensão média do tumor (p=0,05), focalidade (p=0,72), invasão capsular (p=0,07) ou linfovascular (p=0,33). O grupo II não apresentou envolvimento ganglionar em comparação ao grupo I em que ocorreu em 11,6% (p=0,05). O tratamento com iodo radioativo foi mais frequente no grupo I (68,1 vs. 45,5%) p=0,03.ConclusõesNão se verificou diferença estatisticamente significativa, entre os grupos, relativamente à idade, sexo, presença de tiroidite, dimensão do tumor, focalidade, invasão capsular ou linfovascular. Em ambos os grupos registou‐se uma percentagem semelhante de doentes no estádio III. Contudo, os carcinomas incidentais parecem ser biologicamente menos agressivos que os não incidentais.AbstractIntroductionIncreasing incidence of thyroid cancer might be a consequence of an increase detection of subclinical disease. The aim of this study was to compare the clinical and pathologic characteristics of nonincidentally discovered (NID) thyroid cancer with incidentally discovered (ID) on postoperative pathology.MethodsA retrospective medical record review of 102 patients with thyroid cancer was performed. A group I of 69 patients with NID thyroid cancer was compared with a group II of 33 patients with ID thyroid cancer.ResultsAt diagnosis the mean age was 51.5 years for the group I and 56.6 years for the group II (p=0.10). The rate of male was 18.8% in the group I and 12.1% in the group II (p=0.39). Hashimoto's thyroiditis was present in 21.7% and 15.2% of patients in groups I and II, respectively (p=0.53). Papillary tumor was the most frequent in both groups (87.0% in group I and 97.0% in group II). At TNM, stage III was present at a similar rate in both groups (I 21.7% and II 21.2%). There was no statistical difference in the mean size of tumor (p=0.05), focality (p=0.72), capsular involvement (p=.07) and lymphovascular invasion (p=0.33). There weren’t lymph nodes metastasis in group II compared with a rate of 11.6% in group I (p=0.05). Radioactive iodine treatment was most frequent in group I (68.1% vs 45.5%) p=0.03.ConclusionsThere weren’t significant differences in the age, sex, presence of thyroiditis, size of tumor, focality, capsular or lymphovascular invasion between the groups. There was a similar rate of stage III in both groups, nevertheless the ID thyroid cancer seems to be biologically less aggressive than NID