Four-Way Wada: SEEG-based mapping with electrical stimulation, high frequency activity, and phase amplitude coupling to complement traditional Wada and functional MRI prior to epilepsy surgery.

Presurgical evaluation of refractory epilepsy involves functional investigations to minimize postoperative deficit. Assessing language and memory is conventionally undertaken using Wada and fMRI, and occasionally supplemented by data from invasive intracranial electroencephalography, such as electrical stimulation, corticortical evoked potentials, mapping of high frequency activity and phase amplitude coupling. We describe the comparative and complementary role of these methods to inform surgical decision-making and functional prognostication. We used Wada paradigm to standardize testing across all modalities. Postoperative neuropsychological testing confirmed deficit predicted based on these methods.

Longitudinal neurodevelopmental profile of a pediatric patient with de novo SPTAN1, epilepsy, and left hippocampal sclerosis.

Pathogenic variants in SPTAN1 result in abnormal neurodevelopment but limited information is available on the spectrum of neurodevelopmental profiles associated with variations in this gene. We present novel data collected at two time points over a three-year period in a nine-year-old patient with heterozygous de novo SPTAN1 variant, drug-resistant epilepsy, and left hippocampal sclerosis. Across evaluations, our patient's performance was highly variable, ranging from below age expectation to within age-expected range. The patient exhibited relative cognitive strengths at both time points on verbal-expressive tasks. Weaknesses were seen in her attention, executive function, psychomotor processing speed, fine motor, visual-motor integration, and social skills. Memory findings were consistent those associated with left hippocampal sclerosis. Evaluations resulted in diagnoses including attention deficit hyperactivity disorder and autism spectrum disorder.

Erratum to: Scaling up strategies of the chronic respiratory disease programme of the European Innovation Partnership on Active and Healthy Ageing (Action Plan B3: Area 5).

[This corrects the article DOI: 10.1186/s13601-016-0116-9.].

Scaling up strategies of the chronic respiratory disease programme of the European Innovation Partnership on Active and Healthy Ageing (Action Plan B3: Area 5).

Action Plan B3 of the European Innovation Partnership on Active and Healthy Ageing (EIP on AHA) focuses on the integrated care of chronic diseases. Area 5 (Care Pathways) was initiated using chronic respiratory diseases as a model. The chronic respiratory disease action plan includes (1) AIRWAYS integrated care pathways (ICPs), (2) the joint initiative between the Reference site MACVIA-LR (Contre les MAladies Chroniques pour un VIeillissement Actif) and ARIA (Allergic Rhinitis and its Impact on Asthma), (3) Commitments for Action to the European Innovation Partnership on Active and Healthy Ageing and the AIRWAYS ICPs network. It is deployed in collaboration with the World Health Organization Global Alliance against Chronic Respiratory Diseases (GARD). The European Innovation Partnership on Active and Healthy Ageing has proposed a 5-step framework for developing an individual scaling up strategy: (1) what to scale up: (1-a) databases of good practices, (1-b) assessment of viability of the scaling up of good practices, (1-c) classification of good practices for local replication and (2) how to scale up: (2-a) facilitating partnerships for scaling up, (2-b) implementation of key success factors and lessons learnt, including emerging technologies for individualised and predictive medicine. This strategy has already been applied to the chronic respiratory disease action plan of the European Innovation Partnership on Active and Healthy Ageing.

MACVIA-ARIA Sentinel NetworK for allergic rhinitis (MASK-rhinitis): the new generation guideline implementation.

Several unmet needs have been identified in allergic rhinitis: identification of the time of onset of the pollen season, optimal control of rhinitis and comorbidities, patient stratification, multidisciplinary team for integrated care pathways, innovation in clinical trials and, above all, patient empowerment. MASK-rhinitis (MACVIA-ARIA Sentinel NetworK for allergic rhinitis) is a simple system centred around the patient which was devised to fill many of these gaps using Information and Communications Technology (ICT) tools and a clinical decision support system (CDSS) based on the most widely used guideline in allergic rhinitis and its asthma comorbidity (ARIA 2015 revision). It is one of the implementation systems of Action Plan B3 of the European Innovation Partnership on Active and Healthy Ageing (EIP on AHA). Three tools are used for the electronic monitoring of allergic diseases: a cell phone-based daily visual analogue scale (VAS) assessment of disease control, CARAT (Control of Allergic Rhinitis and Asthma Test) and e-Allergy screening (premedical system of early diagnosis of allergy and asthma based on online tools). These tools are combined with a clinical decision support system (CDSS) and are available in many languages. An e-CRF and an e-learning tool complete MASK. MASK is flexible and other tools can be added. It appears to be an advanced, global and integrated ICT answer for many unmet needs in allergic diseases which will improve policies and standards.

[A multicenter study on profile of hypertension in focal segmental glomerulosclerosis in Tunisia]. / Profil de l'hypertension artérielle dans la hyalinose segmentaire et focale (HSF). Étude multicentrique de 116 cas en Tunisie.

UNLABELLED: Hypertension in focal segmental glomerulosclerosis is frequent and responsible for the progression of the disease. It could be a circumstance of the diagnosis of FSG or a complication of the nephrotic syndrome. PURPOSE: To determine the prevalence of hypertension among patients with FSG diagnosed in Tunisia and to describe the profile of patients with FSG having hypertension in contrast with who do not. PATIENTS AND METHODS: It was a retrospective multicentric study based on 116 patient files having FSG located in 5 specialized centers in Tunisia. RESULTS: The prevalence of hypertension among our patients was 41%, with a feminine predominance, their mean age was 36.34 ± 15.71 years. The systolic blood pressure among the patients with hypertension was 153.18 mmHg. The nephrotic syndrome was impure due to hypertension in 14.5% of the cases. The patients affected by hypertension were more obese. Proteinuria was higher among those not having hypertension than those with it, who score an average value of 5.67 ± 4.51 g/24h, with an insignificant difference. Serum creatinine at presentation was significantly higher among patients with hypertension. Vascular lesions were present at the renal biopsy among 39.45% of patients affected by hypertension, associated with renal failure in 58.50% of patients. The etiopathogenic treatment of FSG was essentially based on steroids full dose. CONCLUSION: Hypertension is often present in FSG and its' treatment must be as soon as possible in order to slow the progression of kidney chronic disease.

[Treatment and prognosis of advanced stage non-small-cell lung cancer]. / Traitement et pronostic du cancer bronchique non à petites cellules au stade avancé.

INTRODUCTION: Lung cancer is the main cause of death from cancer in both men and women worldwide. In 70 to 80% of cases, the diagnosis is made at an advanced stage. Although the management of non-small-cell lung cancer (NSCLC) has continued to improve over the last 5 years, the prognosis remains poor with a 5-year survival rate of about 16%. The aim of this study was to evaluate the management of locally advanced or metastatic NSCLC in our patients and to analyze overall survival (OS) and prognostic factors at these stages. MATERIALS AND METHODS: A retrospective study, including cases of locally advanced and metastatic NSCLC diagnosed in our department between 2008 and 2011. RESULTS: We included 150 patients with a mean age of 60.2 years. The cancer was at stage IIIA in 21% of cases, IIIB in 14% of cases and IV in 65% of cases. Thoracic surgery was performed in 5 patients; 61.4% of patients received chemotherapy and chemo-radiotherapy was given in 21% of patients. Overall survival was 6 months. Better survival was observed in patients aged less than 60 years, having better performance status (PS), having no metastatic mediastinal lymph nodes and patients who received specific anti-tumor treatment. CONCLUSIONS: The prognostic factors in locally advanced and metastatic NSCLC in our patients were: age, PS, status of mediastinal lymph nodes at diagnosis and treatment. These factors should be considered by physicians when treating patients with advanced stage NSCLC.

[Sternal tuberculosis causing spontaneous fracture of the sternum]. / Tuberculose sternale avec fracture spontanée du sternum.

Sternal tuberculosis is an uncommon condition. Few cases have been reported. We report the case of a 74-year-old man, presented with a swelling and pain of the anterior chest wall associated to worsening of general state. All routine investigations were normal. Chest radiograph in lateral view showed sternal and chest wall hypertrophy with spontaneous fracture of the sternum. Computed tomography (CT) scan demonstrated ring-enhancing hypodense soft tissue mass surrounding the sternum with sternal fracture. Tuberculosis diagnosis was confirmed by histological study of the mass biopsy. We noted clinical and radiological recovery with medical tuberculosis treatment.

Bladder perforation in a peritoneal dialysis patient.

The dysfunction of the catheter in peritoneal dialysis (PD) is a frequent complication. However, perforation of organs are rare, particularly that of the urinary bladder. This requires an early diagnosis and prompt treatment of patients. We report here the case of a 38-year-old woman having end-stage renal disease due to autosomal-dominant polycystic kidney disease treated by PD since November 2000. Three years later, she was treated for Staphylococcal peritonitis. Four months later, she presented with a severe urge to urinate at the time of the fluid exchanges. The biochemical analysis of the fluid from the bladder showed that it was dialysis fluid. Injection of contrast through the catheter demonstrated the presence of a fistula between the bladder and the peritoneal cavity. She underwent cystoscopic closure of the fistulous tract and the PD catheter was removed. Subsequently, the patient was treated by hemodialysis. One month later, a second catheter was implanted surgically after confirming the closure of the fistula. Ten days later, she presented with pain at the catheter site and along the tunnel, which was found to be swollen along its track. The injection of contrast produced swelling of the subcutaneous tunnel but without extravasation of the dye. PD was withdrawn and the patient was put back on hemodialysis. Bladder fistula is a rare complication in PD and diagnosis should be suspected when patient complains of an urge to pass urine during the exchanges, which can be confirmed by contrast study showing presence of dye in the bladder. PD may be possible after the closure of the fistula, but recurrence may occur.

Severe chronic allergic (and related) diseases: a uniform approach--a MeDALL--GA2LEN--ARIA position paper.

Concepts of disease severity, activity, control and responsiveness to treatment are linked but different. Severity refers to the loss of function of the organs induced by the disease process or to the occurrence of severe acute exacerbations. Severity may vary over time and needs regular follow-up. Control is the degree to which therapy goals are currently met. These concepts have evolved over time for asthma in guidelines, task forces or consensus meetings. The aim of this paper is to generalize the approach of the uniform definition of severe asthma presented to WHO for chronic allergic and associated diseases (rhinitis, chronic rhinosinusitis, chronic urticaria and atopic dermatitis) in order to have a uniform definition of severity, control and risk, usable in most situations. It is based on the appropriate diagnosis, availability and accessibility of treatments, treatment responsiveness and associated factors such as comorbidities and risk factors. This uniform definition will allow a better definition of the phenotypes of severe allergic (and related) diseases for clinical practice, research (including epidemiology), public health purposes, education and the discovery of novel therapies.

Rehospitalization after kidney transplantation during the first year: length, causes and relationship with long-term patient and graft survival.

INTRODUCTION: There is a wide interest in epidemiologic studies assessing different causes of post-kidney transplantation rehospitalization. However, there is a paucity of knowledge on the long-term survival and graft function of rehospitalized kidney transplant recipients during the first year. Knowledge of posttransplant rehospitalization causes may help guide the preventive program at the first year. In our study, we assess causes for hospitalization and investigate the long-term patient and graft survival after non-fatal rehospitalization in kidney recipients during the first year. MATERIALS AND METHODS: We retrospectively studied the medical histories of 419 kidney transplant recipients whose operations were performed between 1986 and 2009 at Charles Nicolle Hospital, in Tunis, Tunisia. Among these patients, a total of 296 posttransplant rehospitalizations of kidney transplant recipients during the first year occurring in 191 (45.5%) patients were assessed. Clinical characteristics of the patients, including gender, age, reason for kidney failure, weight, height, blood group, length of pretransplant dialysis, immunosuppressive regimen, postoperative complications, the length of hospital stay, transplantation-admission interval, causes of rehospitalizations, graft loss, and mortality rate were reviewed. For donors, these demographics included age, gender, blood group, type of donor (deceased or living), and relationship to the recipient. Because rehospitalizations are possible for more than one cause, the sum of frequencies of rehospitalization causes is more than 100%. RESULTS: There was 1 rehospitalization in 121 patients, 2 rehospitalizations in 47 patients, 3 rehospitalizations in 15 patients, 4 rehospitalizations in 5 patients, 5 rehospitalizations in 2 patients and 6 rehospitalizations in 1 patient. Rehospitalization was more frequent for diabetic patients without significant association. The causes of rehospitalization were infection in 221 cases (55.5%), renal dysfunction in 106 cases (26%), cardiovascular event in 10 cases (2.4%), and diabetic ketoacidosis in 11 cases (2.7%). The length of hospital stay was 22.5 ± 29.6 days, 20.15 ± 22.16 days, 25 ± 30 days and 23.4 ± 27.5 days, respectively, in the first, second, third, and fifth rehospitalizations. Median hospital stay for all rehospitalizations was between 14 and 16 days. The risk factors of rehospitalization were: use of mycophenolate mofetile (P = .0072), use of cyclosporine (P = .0073), and cytomegalovirus infection (P < .001). There was no significant correlation between rehospitalization and either lost of graft and death. CONCLUSIONS: During the first year after kidney transplantation, rehospitalization was especially required because of infections and renal dysfunction. The risk factors of rehospitalization were cadaveric graft, use of mycophenolate mofetil, use of cyclosporine, and cytomegalovirus infection. To prevent and minimize rehospitalizations during the first year, a specific preventive program based on infection prevention and graft function monitoring should be established.

[Etiology and evolution of bronchiectasis in women]. / Profil étiologique et évolutif des bronchectasies chez la femme.

INTRODUCTION: Although considered as an orphan disease in the developed countries, bronchiectasis are frequent in our country as in all emerging ones. They are most common in women and they represent a frequent cause for consultation and hospitalization in pulmonology departments. PATIENTS AND METHODS: To determine the etiology and prognosis of the bronchectasies in women, a retrospective study was performed including 200 patients. RESULTS: The mean age was 55.60 years. The diagnosis of bronchiectasis was confirmed in all patients. Bronchiectasis were post-tuberculosis in 56.5% of cases and primitive in 29.5% of cases. The systemic diseases, in particular the rheumatoid polyarthritis represented 3% of cases. The infectious complications and the chronic respiratory failure were more frequent in patients with primitive bronchiectasis than those with secondary bronchiectasis. However this difference was statistically significant only for the chronic respiratory failure. CONCLUSION: The bronchiectasis remains frequent in women in our country, as a sequel of pulmonary tuberculosis more than primitive forms. Bronchiectasis secondary to systemic diseases, although rare, must be known.

Malformative uropathies and kidney transplantation.

INTRODUCTION: Malformative uropathies are a frequent cause of end-stage renal disease (ESRD) requiring renal replacement therapy (RRT). Medical management of urinary tract infections and advances in surgical reconstruction procedures resulted in good outcomes of kidney transplantation among these patients. The aim of this article was to describe the epidemiological profiles and outcomes of patients who underwent transplantation for ESRD related to malformative uropathies. PATIENTS AND METHODS: Among 493 kidney recipients at our center from 1986 to 2009, 47 had malformative uropathies as the cause of ESRD. We retrospectively studied the incidence of acute rejection episodes, acute tubular necrosis, as well as patient and graft survivals, comparing these results to those observed in patients without malformative uropathies using chi-square tests for qualitative parameters and nonpaired Student t tests for continuous variables. Log-rank tests were used for comparisons of survival curves. RESULTS: The 47 patients, representing 9.53% of our kidney transplant recipients, included 27 men and 20 women (sex ratio=1.35) with an overall mean age of 27.6±9.1 years (range, 10-49). The common etiology was vesico-ureteral reflux (78.7%). Hemodialysis was the main RRT modality (68%) with a median duration of 41 months. Also, 82.9% of patients received transplants from living donors. Acute tubular necrosis occurred in 4 of these (8.5%) versus 22.06% of the other patients (P=.03). Acute rejection episodes were observed in 13 of these patients (27.6%) versus 23.1% of the other patients (P=not significant [NS]). After a cumulative follow-up period of 3744 months (median, 41.8 months), 5 patients had died (1.6 death/y/100 patients) and 5 had lost their allografts and returned to dialysis (1.6 case/y/100 patients). Graft survival rates at 1, 5, and 10 years were 97.8%, 93.2%, and 79.9%, which were comparable with 95.9%, 87.6%, and 78.9% among the other patients, respectively (P=NS). Patient survival rates at 1, 5, and 10 years were 100%, 88.5%, and 82.6% versus 96%, 87.6%, and 79.6%, respectively (P=NS). CONCLUSION: Kidney transplantation in patients with malformative uropathies is increasingly frequent. The incidence of acute rejection episodes as well as patient and graft survivals were comparable with those of subjects without malformative uropathies.

Short- and long-term outcomes of living donors in Tunisia: a retrospective study.

Despite initiatives to increase cadaveric donation, there is still a shortfall in donor organs. Kidneys from living donors now makes a significant contribution to increasing the number of organs available for transplantation in Tunisia. We performed a retrospective study of 405 kidney transplantations, including 321 (79.3%) from living donors performed from June 1986 to December 2007. We obtained information on only 162 (50.4%), namely, 64 men (39.5%) and 98 women (60.5%), whose mean age at the time of donation was 42.3 ± 12.2 years. Twelve (8.22%) perioperative complications occurred: wound infections (n = 4), pneumothorax (n = 4), phlebitis (n = 1), hematomas (n = 2), and urinary infection (n = 1). The mean follow-up period was 117.4 ± 74.4 months. Hypertension occurred in 42 donors (25.9%) with mean values of 134 ± 20 for systolic and 79 ± 10 for diastolic blood pressure. Twelve donors (7.4%) developed proteinuria (mean proteinuria, 0.08 ± 1.25 g/d). Renal insufficiency was found in 28 donors (19.44%), 2 of whom developed chronic renal failure requiring dialysis at intervals of 36 and 84 months. In both cases, we diagnosed a familial form of focal segmental glomerulosclerosis. Two donors (1.2%) died within 10 years after kidney donation due to senility. The relatively favorable outcomes suggest that living-donor kidney transplantation is an acceptable approach, in view of the superior results it yields in recipients. However, efforts to increase the number of cadaveric donors in Tunisia should be made. It is also important to develop a registry of long-term kidney function after kidney donation.

[AA amyloidosis complicating sarcoidosis: two cases and literature review]. / Amylose AA compliquant une sarcoïdose : deux observations et revue de la littérature.

INTRODUCTION: Sarcoidosis is a relatively common granulomatosis. Its outcome is usually favourable. AA amyloidosis is a rare complication of sarcoidosis. We report two new cases and review the literature. CASE REPORTS: A 40-year-old woman followed for a splenomegaly was admitted for assessment of hepatic cholestasis. The diagnosis of sarcoidosis involving lungs, liver, spleen and lymph nodes was obtained on clinical, biological and histological evidence. Simultaneously, AA amyloidosis deposits was demonstrated on lymph nodes and spleen. The second patient was a 42-year-old woman who was evaluated for mediastinal lymph nodes and interstitial pneumonia. Lung biopsy showed epithelioid and giant cell granuloma without caseous necrosis, associated to AA amyloidosis deposits. In these two patients, corticosteroids (initially at 1 mg/kg daily) led to a sustained improvement with a 1 and 5 years follow-up, respectively. CONCLUSION: AA amyloidosis is an uncommon complication of sarcoidosis. Corticosteroids associated with colchicine is proposed to treat simultaneously the two disorders.

Nephrolithiasis-induced end stage renal disease.

INTRODUCTION: Nephrolithiasis still remains a too frequent and underappreciated cause of end stage renal disease (ESRD). METHODS AND PATIENTS: Of the entire cohort of 7128 consecutive patients who started maintenance dialysis in our nephrology department between January 1992 and December 2006, a total of 45 patients (26 women, 19 men) had renal stone disease as the cause of ESRD. The type of nephrolithiasis was determined in 45 cases and etiology in 42. The treatment and evolution of stone disease and patient's survival were studied. RESULTS: The overall proportion of nephrolithiasis related ESRD was 0.63%. The mean age was 48.4 years. Infection stones (struvite) accounted for 40%, calcium stones, 26.67% (primary hyperparathyroidism:15.56%; familial hypercalciuria: 4.44%, unknown etiology: 6.66%), primary hyperoxaluria type 1, 17.78% and uric acid lithiasis in 15.56% of cases. The mean delay of the evolution of the stone renal disease to chronic renal failure was 85.8 months. The feminine gender, obesity and elevated alkaline phosphatases >128 IU/L were significantly correlated with fast evolution of ESRD. The median evolution to ESRD was 12 months. The normal body mass index (BMI), medical treatment of stone and primary hyperoxaluria type 1 were correlated with fast evolution to ESRD. All patients were treated by hemodialysis during a mean evolution of 60 months. Sixteen patients died. The patient's survival rate at 1, 3 and 5 years was 97.6, 92.8 and 69% respectively. Hypocalcemia, cardiopathy and normal calcium-phosphate product were significantly correlated with lower survival rate. CONCLUSION: Severe forms of nephrolithiasis remain an underestimated cause of ESRD. These findings highlight the crucial importance of accurate stone analysis and metabolic evaluation to provide early diagnosis and efficient treatment for conditions leading to ESRD.