Volume 16 (2019): Issue 2 (April 2019)

Renal pathology is a pluralism of acute or chronic conditions in which the main victim is the nephron. Regardless of the nature of the injury, the primary lesion will always lead - in absence of efficient treatment - to end-stage kidney disease and renal replacement therapy. Although we are in the 21st century and amazing advances have been recorded in the medical field, the diagnosis of chronic kidney disease is performed - most frequently - based on the estimation of the glomerular filtration rate, based on serum creatinine. Unfortunately the serum creatinine level increases only when > 50% of the nephrons are already irremediably destroyed. In the last 20 years, an intensive research is performed in order to discover new plasma or urinary biomarkers for an earlier diagnosis of the renal pathology. Neutrophil gelatinase-associated lipocalin (NGAL) has a central place in this research, and its diagnostic and prognostic utility is proven particularly in acute kidney injury, but also in glomerulonephrites, diabetic nephropathy, and chronic kidney disease.

Objective. The study aimed to investigate the relationship between ankle involvement and disease activity in rheumatoid arthritis (RA), from clinical and ultrasound perspectives.

Methods. RA patients were recruited in 2018 in the random order of presentation from the out-patient clinic. On the same day of inclusion, all patients underwent clinical examination, laboratory tests (inflammatory markers), ankle ultrasound and patient-reported outcomes.

Results. The study included 183 patients with established RA, mostly women (86.3%), with mean age of 57.3 years. Clinical examination revealed 101 (55.2%) patients with at least one tender ankle and 56 (30.6%) patients with at least one swollen ankle. Regression analysis revealed that both clinically tender and swollen ankles were 2.8 and respectively 3.4 times more likely to reveal ultrasound ankle joint synovial hypertrophy (SH). The presence of ankle SH was associated with higher disease activity: for example, compared to patients without ankle SH, patients with ultrasound-detected SH in any ankle joint had significantly higher median DAS28CRP (4.60 compared to 2.73, p<0.001). Power Doppler (PD) activity of ankle SH produced similar results: PD signal presence (p<0.001) and PD grade (p = 0.009) were associated with higher median DAS28CRP. Ankle joint involvement had an independent effect on DAS28CRP-defined disease activity: for example, the absence of ankle SH independently and significantly decreased DAS28CRP with 0.985 points (p<0.001).

Conclusion. Clinical ankle involvement and ultrasound-detected ankle SH have a directly proportional relationship with disease activity in RA.

Cushing’s syndrome (CS) is a clinical condition resulting from chronic exposure to glucocorticoid excess. Hypercortisolism contributes significantly to the early development of systemic disorders by direct and/or indirect effects. Complications such as obesity, hypertension, diabetes, dyslipidemia, and hypercoagulability cause premature atherosclerosis and increase cardiovascular mortality. These associated abnormalities increase cardiovascular risk not only during the active phase of the disease but also long after the remission of hypercortisolism. Clinical management of these patients should be particularly careful and control of cardiovascular risk factors is necessary for a long period.

The Epstein-Barr virus (EBV) is a gamma-herpesvirus that colonizes the B-cell system of its human host, allowing it to persist asymptomatically in the majority of the world’s adult population. In most people primary infection goes unnoticed, whereas in a minority of individuals, primary infection results in infectious mononucleosis (IM), a benign condition that almost always resolves after several weeks or months. However, EBV is also causally linked with a number of malignancies, including B-cell lymphomas, such as classical Hodgkin lymphoma (cHL).

A proportion of patients with cHL harbor EBV within their tumor cells. Emerging evidence suggests that while EBV is able to subvert cellular processes to promote the growth and survival of HRS cells or their progenitors, mutations in key cell signalization pathways are probably required to do this when EBV is absent. The challenge is to unravel exactly how EBV and its latent genes contribute to the pathogenesis of cHL particularly with respect to how the virus co-operates with cellular genetic and epigenetic changes to drive transformation. It is hoped that the development of better in vitro and in vivo models of disease will reveal more fundamental aspects of EBV’s role in Hodgkin lymphoma pathogenesis and pave the way for targeted therapies for patients with EBV-positive cHL.

Chronic kidney disease, no matter the aetiology, has a progressive evolution and a negative prognosis. The rapidity of nephrons loss and deterioration of renal function depends on the aetiology of the kidney disease, the prompt diagnosis, efficiency of the treatment and the patient compliance to the treatment, diet and suitable lifestyle. The therapeutic control of the mechanisms of progression have also demonstrated that it could be possible to attenuate or even to stop the evolution towards kidney failure.

Mindfulness is a complex mental state meaning paying attention to the present moment but non judgemental, practically awareness of present. Developed like a form of mental training, has the objective to replace automatic or reactive modes of mind.

Processes to improve a non-judgemental attitude by mindfulness meditation and cognitive training may relieve psychological distress in COPD, where stigma and self blame, associated with depression are highly prevalent. Mindfulness based trainings could be included as add on treatments in pulmonary rehabilitation programs , with a hope to improve patients self-care and adherence.

Appendiceal epithelial tumors are a rare finding in comparison with the incidence of colorectal cancer that is approximately 100-fold higher. As appendiceal neoplasms and colorectal cancer have a different clinical and tumoral behavior, these tumors are classified separately in the various tumor classifications. Most appendiceal neoplasms are found during surgery or postoperatively in appendectomy specimens. Given the possibility of neoplastic peritoneal dissemination, the lack of symptoms is a serious problem.

However, the percentage of appendiceal tumors that is incidentally discovered by imaging is increasing over time. Primary adenocarcinoma of the appendix is exceedingly rare and frequently has an extremely poor prognosis because it is diagnosed in advanced stages.

The purpose of this paper is to present a case of congenital pseudohypoparathyroidism, late diagnosed in a 22-year-old patient.

The patient’s history revealed hypocalcaemia, diagnosed at birth and persistent despite the treatment with calcium. At 8 years old, the patient is diagnosed with epilepsy and receives treatment with Levetiracetam and Oxcarbazepine; at 12 years old she is diagnosed with dilatative cardiomyopathy and receives treatment with Spironolactone and Glycosides. At 22 years old, she visits our Internal Medicine Department with the suspicion of polymyositis and psoriasis. Clinical examination shows armonic short stature, fourth finger hypoplasia, laboratory findings show severe hypocalcaemia, the hand X-ray - third and fourth metacarpal hypoplasia, immunological tests were negative. All data leads to the diagnosis of congenital disease, and given the history of the patient and the evolution of the clinical manifestations we presume hypoparathyroidism or pseudohypoparathyroidism, therefore PTH is dosed – with normal values, and the diagnosis of congenital pseudohypoparathyroidism is established. The patient was referred to endocrinology, where genetic tests were performed to confirm the diagnosis.

In conclusion, in the absence of multiple pathology integration into a single disease, the diagnosis of the genetic disease is delayed. Therefore, it is important to have a comprehensive approach and collaboration between different specialties to establish the correct diagnosis.