Publications by authors named "Lalaoui A"

Context: Intussusception is the most common cause of small bowel obstruction in children under 4 years of age. Intussusception is not a widely recognized complication of celiac disease.

Case Report: We present a clinical case of a 23-month-old boy with a 1-month history of watery diarrhea complicated by 2 episodes of intestinal obstruction, both had required surgery. He presented with acute and severe abdominal distention with bilious vomiting, and an appearance of intussusception on abdominal ultrasound. Upon further investigation, the diarrhea was found to be malabsorptive. The diagnosis of celiac disease was confirmed by the presence of specific serum autoantibodies (IgA Tissue transglutaminase and endomysium Antibodies >200 UI/ml with normal serum IgA level). He started a gluten-free diet and his symptoms were almost completely resolved.

Conclusion: Recurrent intussusception may be associated with celiac disease, so celiac serology is recommended in children with recurrent intussusceptions. However, intestinal tuberculosis and lymphoma associated with enteropathy should be considered in the differential diagnosis. Intussusception in celiac disease is usually transient and should be managed expectantly rather than early surgical reduction.

Aphallia or penile agenesis is a rare congenital malformation with an estimated incidence rate of 1 in 10 to 30 million births. More than half of aphallia cases have associated anomalies including caudal axis, cardiovascular, genitourinary, and gastrointestinal anomalies. The penile agenesis associated with adrenal insufficiency has never been reported in an infant. We report a rare case of a newborn that was diagnosed as a case of aphallia with vesicorectal fistula and vesicoureteral reflux, complicated by adrenal insufficiency with salt-wasting crisis.

Background: A colorimetric microassay for the quantitative determination of galactose in the blood was taken and updated. This method helps in diagnosis and follow-up of several inherited metabolic diseases connected to galactose metabolism deficiency such as galactosemia, glycogenosis, glycosylation, tyrosinemia and citrin deficiency. Galactose assay in the blood presents difficulties due to interference with glucose. In this study, we update a method to get around these difficulties.

Method: This procedure was based on the incubation of whole blood with orcinol in a strongly acidic solution to form a galactose and glucose complexes able to absorb at two different wavelengths.

Results: The standard curve analysis for the individual solutions of these two sugars showed a wide range of linearity from 0 to 200 mg / l. Under optimal experimental conditions, the stirring time of the orcinol is 3 minutes, the heating time of the reaction is 20 minutes at 56 ° C, and the duration of the incubation in the dark is 40 minutes. The analysis is carried out on fresh blood. The maximum absorbance of galactose and glucose is respectively 569 nm and 421 nm. An adapted diagnosis algorithm was developed based on our results.

Conclusion: this method could help in screening and identifying patients with hypergalactosemia that need further investigations. It could represent a promising method for neonatal screening in countries with limited resources.

Rationale & Objective: Membranous nephropathy (MN) is characterized by the deposition of immune complexes along glomerular basement membranes. M-Type phospholipase A receptor (PLAR), thrombospondin type 1 domain-containing 7A (THSD7A), exostosin 1 and 2 (EXT1/2), and neural epidermal growth factor-like 1 protein (NELL-1) have been identified as established or potential podocyte antigens in MN. We investigated the association of podocyte antigen staining with MN clinical phenotype and outcomes.

Study Design: Multicenter retrospective cohort study.

Setting & Participants: 177 consecutive patients with MN unrelated to lupus erythematosus, identified after screening of 3,875 native kidney biopsies performed in the Belgian UCLouvain Kidney Disease Network from 2000 through 2018.

Predictor: Positive immunostaining for podocyte antigens on archived kidney biopsy samples.

Outcomes: Association with different phenotypes (baseline characteristics of patients and pathologic findings on kidney biopsy), time to cancer and to kidney failure.

Analytical Approach: Kaplan-Meier estimates and Cox regression analyses to assess time to cancer and kidney failure.

Results: 177 patients were followed up for a median of 4.0 (IQR, 1.3-8.0) years. Diagnosis of PLAR-positive (PLAR), THSD7A, and double-negative (PLAR/THSD7A) MN was made in 117 (66.1%), 6 (3.4%), and 54 (30.5%) patients, respectively. Progression to kidney failure was similar in all groups. Although the number of patients with THSD7AMN was small, they showed a higher incidence (50%) and increased risk for developing cancer during follow-up (adjusted HR, 5.0 [95% CI, 1.4-17.9]; P=0.01). 8% and 5% of patients with double-negative MN stained positively for EXT1/2 and NELL-1, respectively. Most patients with EXT1/2MN were women, had features of systemic autoimmunity, and showed glomerular C1q deposits.

Limitations: Retrospective design; small number of patients in the THSD7A group; lack of evaluation of immunoglobulin G subclasses deposition.

Conclusions: Our real-world data describe the relative prevalence of subgroups of MN and support the hypothesis that a novel classification of MN based on podocyte antigen staining may be clinically relevant.

Background: Rapid and accurate diagnosis of mucopolysaccharidoses (MPS) is still a challenge due to poor access to screening and diagnostic methods and to their extensive clinical heterogeneity. The aim of this work is to perform laboratory biochemical testing for confirming the diagnosis of mucopolysaccharidosis (MPS) for the first time in Morocco.

Methods: Over a period of twelve months, 88 patients suspected of having Mucopolysaccharidosis (MPS) were referred to our laboratory. Quantitative and qualitative urine glycosaminoglycan (GAG) analyses were performed, and enzyme activity was assayed on dried blood spots (DBS) using fluorogenic substrates. Enzyme activity was measured as normal, low, or undetectable.

Results: Of the 88 patients studied, 26 were confirmed to have MPS; 19 MPS I (Hurler syndrome; OMIM #607014/Hurler-Scheie syndrome; OMIM #607015), 2 MPS II (Hunter syndrome; OMIM #309900), 2 MPS IIIA (Sanfilippo syndrome; OMIM #252900), 1 MPS IIIB (Sanfilippo syndrome; OMIM #252920) and 2 MPS VI (Maroteaux-Lamy syndrome; OMIM #253200). Parental consanguinity was present in 80.76% of cases. Qualitative urinary glycosaminoglycan (uGAGs) assays showed abnormal profiles in 31 cases, and further quantitative urinary GAG evaluation and Thin Layer Chromatography (TLC) provided important additional information about the likely MPS diagnosis. The final diagnosis was confirmed by specific enzyme activity analysis in the DBS samples.

Conclusions: The present study shows that the adoption of combined urinary substrate analysis and enzyme assays using dried blood spots can facilitate such diagnosis, offer an important tool for an appropriate supporting care, and a specific therapy, when available.

Unlabelled: The SYMPLICITY studies showed that renal denervation (RDN) is feasible as novel treatment for resistant hypertension. However, RDN is a costly and invasive procedure, the long-term efficacy and safety of which has not yet been proven. Therefore, we designed the INSPiRED trial to compare the blood pressure lowering efficacy and safety of RDN vs usual medical therapy. INSPiRED is a randomized controlled trial enrolling 240 treatment-resistant hypertensive patients at 16 expert hypertension centres in Belgium. Eligible patients, aged 20-69 years old, have a 24-h ambulatory blood pressure of 130 mmHg systolic or 80 mmHg diastolic or more, while taking at least three antihypertensive drugs. They are randomized to RDN (EnligHTN(TM), SJM system) plus usual care (intervention group) or usual care alone (control group) in a ratio of 1:1. The primary endpoints for efficacy and safety, measured after 6 months, are the baseline-adjusted between-group differences in 24h systolic blood pressure and in glomerular filtration rate as estimated by the Chronic Kidney Disease Epidemiology Collaboration equation. Follow-up will continue up to 36 months after randomization. INSPiRED is powered to demonstrate a 10-mmHg difference in systolic blood pressure between randomized groups with a two-sided p-value of 0.01 and 90% power. It will generate long-term efficacy and safety data, identify the subset of treatment-resistant hypertensive patients responsive to RDN, provide information on cost-effectiveness, and by doing so INSPiRED will inform guideline committees and health policy makers.

Trial Registration: ClinicalTrials.gov Identifier: NCT 01505010.

Bone loss, a recognized complication of renal transplantation (TP), is mainly attributed to steroids. The effect of other immunosuppressive agents on patients' bone mass is difficult to distinguish from that of steroids. In this study, we evaluate the evolution of bone mass density over the first 12 months following renal TP in two groups of patients given either low-dose steroids with tacrolimus ( n=7) or normal-dose steroids and cyclosporine ( n=19). Bone mineral density (BMD) of the lumbar spine, total hip, and hip subregions and total-body bone mineral content (BMC) were measured by dual-energy X-ray absorptiometry within the first 15 days, and 1 year after TP. Biological markers of bone turnover (serum calcium, phosphate, total alkaline phosphatase activity, intact parathyroid hormone, bone-specific alkaline phosphatase, calcitriol, and urinary pyridinolines) were regularly measured during follow-up. After TP, renal function improved rapidly in all patients. One year after TP, bone mass had decreased significantly in the cyclosporine group in all investigated sites. By contrast it had increased in the tacrolimus group. In order to compare the evolution of bone mass in patients given similar amounts of steroids, the cyclosporine group was subdivided in tertiles according to the 1-year cumulative oral intake of prednisolone. A significant bone loss was still observed in the low-steroid cyclosporine subgroup but not in the tacrolimus group, despite the similar steroids intake (3.5+/-0.5 g and 2.7+/-1 g, respectively). Bone gain in the tacrolimus group occurred despite a previous longer dialysis duration and a higher number of postmenopausal women who were not receiving hormone substitutes. Long-term evaluation of bone density (3-5 years post-TP) confirmed the bone gain in the tacrolimus patients. Interestingly, the profile of the biological markers of bone turnover appeared better in patients prescribed tacrolimus than in those given cyclosporine, though the differences did not reach statistical significance. Weconclude that tacrolimus associated with low-dose steroids might better preserve bone mass after renal TP than cyclosporine and normal doses of steroids.

Background: Physical activity (PA) level of end-stage renal disease (ESRD) patients after renal transplantation (TP) is a largely unexplored field, although it is an important component of quality of life.

Methods: Using the Baecke self-administered and the Five-City Project 7-day PA recall questionnaires, PA level was estimated in 32 consecutive ESRD patients (12 males, 20 females; mean age 45.9+/-13.1 years; mean dialysis duration 23.5+/-21.8 months) admitted for renal TP and to whom no exercise programme of any kind was proposed. PA were recorded 1, 3, 6, 12 and 60 months after TP.

Results: Immediate pre-TP PA level of renal transplant candidates was between 18 and 35% less than that of age-matched healthy subjects (P < 0.05), depending on gender and questionnaire. After an immediate decrease in PA level 1 month post-TP, mean PA level increased and reached a plateau 1 year after TP. This gain in PA capacity reached 30%, as compared with pre-TP values (P = 0.06 to P < 0.01). During the fifth year after TP, the mean level of PA was unchanged. A more qualitative analysis, allowed by the sub-score comparisons, showed that although the occupational status of the patients remained the same, they participated significantly more in moderate and even high intensity PA (leisure, sports, household chores) after TP.

Conclusions: Most renal graft recipients are spontaneously more active after TP, an observation consistent with a better quality of life. Therefore, they should be advised precisely about how to resume more strenuous activities such as sports in order to avoid cardiac or musculoskeletal disorders in relation to their weakened pre-TP condition.