Screening for childhood lead poisoning in the industrial region of Fez, Morocco.

The study objectives were to estimate lead poisoning prevalence among children living next to an industrial area, to compare it to that in a control population, and to establish clinical and biological follow-up of the poisoned children. This is a descriptive cross-sectional study including 150 children (exposed and unexposed) performed between January 2012 and April 2013. It was meant to determine blood lead levels (BLLs) in children considered to be an exposed population (EP N 90), living in the industrial area Ain Nokb Fez compared with BLLs of children of other areas belonging to the same city supposed to be unexposed [UP (N = 60)]. A sociodemographic questionnaire was obtained, and a blood lead analysis was performed. Clinical and biological follow-up has been performed of poisoned children. The sample consisted of 90 EP children with an average age of 6.82 ± 3.32 years and male-to-female sex ratio (SR) of 1.5 and 60 UP children with an average age of 6.45 ± 3.29 years and an SR of 1.2. Among the 150 children recruited, the average of BLLs was 58.21 ± 36 µg/L (18-202.3 µg/L). The average of BLLs in EP children (71 ± 40 µg/L) was statistically greater (p < 0.0001) than that registered in UP children (38 ± 13 µg/L). All poisoned children belonged to the EP group at a prevalence of 21.1 %. The clinical and biological examinations of poisoned children showed a few perturbations such as anemia, hypocalcaemia, and deficiencies in magnesium and iron. No renal disease or objective neurological disorders were observed. In the follow-up of the children with BLL ≥100 µg/L (19 cases). BLL monitoring showed a significant decrease in average of blood concentration ranging from 136.75 ± 32.59 to 104.58 ± 32.73 µg/L (p < 0.0001) and in lead poisoning prevalence (p < 0.001), which decreased to 7.8 % from 21.1. Our study showed a high prevalence of lead poisoning (21.1 %) in EP children. The relocation of the industrial site associated with corrective and preventive measures has contributed to a decrease of exposure and lead poisoning prevalence in the aforementioned population.

First report on the Moroccan registry of primary immunodeficiencies: 15 years of experience (1998-2012).

PURPOSE: Primary immunodeficiencies (PIDs) are a large group of diseases characterized by susceptibility to infections. We provide the first comprehensive report on PIDs in Morocco, the epidemiological, clinical, etiological and outcome features which have never before been described. METHODS: A national registry was established in 2008, grouping together data for PID patients diagnosed since 1998. RESULTS: In total, 421 patients were diagnosed between 1998 and 2012. Parental consanguinity was common (recorded for 43.2 % of patients) and the median time to diagnosis was 2.0 years. Overall, 27.4 % of patients were considered to have well defined syndromes with immunodeficiency (48 cases of hyper-IgE syndrome and 40 of ataxia-telangiectasia); 22.7 % had predominantly antibody deficiencies (29 cases of agammaglobulinemia and 24 of CVID); 20.6 % had combined immunodeficiencies (37 cases of SCID and 26 of MHC II deficiencies) and 17.5 % had phagocyte disorders (14 cases of SCN and 10 of CGD). The principal clinical signs were lower respiratory tract infections (60.8 %), skin infections (33.5 %) and candidiasis (26.1 %). Mortality reached 28.8 %, and only ten patients underwent bone marrow transplantation. We analyzed the impact on mortality of residence, family history, parental consanguinity, date of diagnosis and time to diagnosis, but only date of diagnosis had a significant effect. CONCLUSIONS: The observed prevalence of PID was 0.81/100,000 inhabitants, suggesting considerable underdiagnosis and a need to increase awareness of these conditions in Morocco. The distribution of PIDs was different from that reported in Western countries, with a particularly high proportion of SCID, MHC II deficiencies, hyper-IgE syndrome and autosomal recessive agammaglobulinemia. However, we have now organized a national network, which should improve diagnosis rates in remote regions.

[Seizures revealing phosphocalcic metabolism abnormalities]. / Crises épileptiques révélant des anomalies du métabolisme phosphocalcique.

Hypocalcemia due to hypoparathyroidism produces a broad spectrum of clinical manifestations, but overt symptoms may be sparse. One unusual presentation is onset or aggravation of epilepsy in adolescence revealing hypoparathyroidism. This situation can lead to delayed diagnosis, with inefficacity of the antiepileptic drugs. We report five cases of adolescence-onset epilepsy with unsuccessful antiepileptic therapy, even with gradually increasing dose. Physical examination revealed signs of hypocalcemia, confirmed biologically. Full testing disclosed the origin of the seizures: hypoparathyroidism in three patients and pseudohypoparathyroidism in the other two. In four of five patients, computed tomography showed calcification of the basal ganglia, defining Fahr's syndrome. The patients were treated with oral calcium and active vitamin D (1-alphahydroxy vitamin D3). Seizure frequency progressively decreased and serum calcium levels returned to normal. These cases illustrate the importance of the physical examination and of routine serum calcium assay in patients with new-onset epileptic seizures in order to detect hypocalcemia secondary to hypoparathyroidism.

Activated extracellular signal-regulated kinase correlates with cyst formation and transforming growth factor-beta expression in fetal obstructive uropathy.

Human renal dysplasia is frequently associated with urinary tract obstruction and the abnormal expression of mitogen-activated protein kinase (MAPK). Here, we determined the renal responses and MAPK expression in developing kidneys that were obstructed in fetal lambs. Kidneys were harvested at various times after obstruction (gestation day 60) through normal term (day 145). Dilation of Bowman's capsule and proximal tubules was seen 2 days after obstruction and involved the whole cortex 18 days later, with numerous cysts present throughout the kidney at term. The proliferation marker Ki-67 and transforming growth factor-beta (TGF-beta) were detected 2 days after obstruction and progressively increased in tubules, cysts, and the interstitium. In control kidneys, p38 was expressed in tubules only during the fetal stage, whereas phosphorylated extracellular signal-regulated kinase (P-ERK) was limited to ureteric buds and collecting ducts at all stages examined. However, Jun-N-terminal kinase (JNK) was absent in the fetal kidney but present in tubules at term. In obstructed kidneys, cyst epithelia were positive for p38 and P-ERK but negative for JNK throughout all stages. These studies show that P-ERK correlated spatially and temporally with Ki-67 and TGF-beta expression, which suggests that ERK may contribute to cyst formation and fibrosis in the obstructed fetal kidney.

[Infantile herpes zoster]. / Zona chez un nourrisson.

Herpes zoster occurs seldom in infants, especially in the absence of exposure to maternal varicella either intrauterine or postnatal. We report on a case in a 3-month-old infant admitted for herpes zoster in the sciatic nerve territory. No cutaneous eruption was found in the mother or in people who were in contact with the patient. This rare clinical situation is here reviewed, showing that the absence of antenatal or postnatal exposure to herpes viruses does not preclude the occurrence of herpes zoster infection in early infancy.

[Giant mesenteric lipoma in children: A case-report]. / Lipome mésentérique géant chez l'enfant : à propos d'un cas.

Mesenteric lipoma is an extremely rare disease in children. Fewer than 50 cases have been reported in the literature. Diagnosis is based on clinical examination, ultrasound, and computed tomography (CT). However, only the histological study of the specimen during laparotomy or laparoscopy can confirm the diagnosis. Thus, surgery, be it by laparotomy or laparoscopic, is both a means of exploration and treatment in mesenteric lipoma. We report on a case of giant lipoma of the mesentery in a 7-year-old girl presenting paroxysmal abdominal pain with a subocclusive syndrome lasting 1 week.

[Inflammatory tumor of the great omentum after ingestion of a bone fragment]. / Tumeur inflammatoire du grand épiploon après ingestion d'un fragment osseux.

The ingestion of a foreign body is one of the most common accidents in children. It comes in extremely varied clinical presentations in which radiological imaging plays an important role in diagnosis. Colonic perforations are particularly serious because of the major risk for septic fecal peritonitis. Management depends on the nature of the ingested object, its location, the child's age and the child's clinical status. We report a child presenting an inflammatory tumor of the omentum on an ingested bone fragment that had perforated the transverse colon.

Circulating microparticles from diabetic rats impair endothelial function and regulate endothelial protein expression.

AIM: Diabetes mellitus increases the risk of cardiovascular disease, which is accompanied by functional and structural changes in the vascular system. Microparticles (MPs) have been described as biological vectors of endothelial dysfunction in other pathologies. However, the molecular mechanisms underlying their formation and signalling are unclear. We investigated the role of MPs derived from streptozotocin (STZ)-induced diabetic rats in endothelial function. METHODS: Male Wistar rats were injected with STZ to induce diabetes, and MPs isolated from control or STZ-induced diabetic rats were characterized by dot blotting (assessed by CD62P detections), flow cytometry (assessed by annexin V detections) and ELISA. Carotid arteries from rats were incubated with MPs, and expressions of enzymes and endothelium-dependent relaxation were analysed. RESULTS: The circulating levels of MPs, particularly the levels of platelet-derived microparticles, from diabetic rats were higher than those present in controls. Endothelium-dependent relaxation induced by acetylcholine (ACh) was attenuated in carotid arteries from STZ-induced diabetic rats. Following the incubation of control carotid arteries with MPs isolated from STZ rats, ACh-induced endothelium-dependent relaxation was impaired, but MPs isolated from control rats had no such effect. Furthermore, the effect of MPs was mediated by a decrease in expression of endothelial nitric oxide synthase (eNOS) and the overexpression of caveolin-1. CONCLUSION: Circulating MPs isolated from STZ-induced diabetic rats induce endothelial dysfunction in carotid arteries and regulate protein expressions of eNOS and caveolin-1. These data advance our understanding of the deleterious effects of circulating MPs observed in disorders with diabetic complications.

[Acute retention of urine secondary to a congenital diverticulum of the bladder]. / Rétention aiguë d'urine secondaire à un diverticule congénital bilatéral de la vessie.

Bladder diverticula in children are mostly congenital, frequently associated with vesicoureteral reflux. Their positive diagnosis is based primarily on retrograde urethrocystography. One complication of this condition is acute urinary retention. We report the case of a 4-month-old infant who presented acute retention of urine secondary to bilateral congenital bladder diverticulum and review the literature on this subject.

Poststreptococcal acute glomerulonephritis superimposed on bilateral renal hypoplasia.

An 8-year-old girl with preexisting chronic renal failure (CRF) due to bilateral renal hypoplasia presented with edema, gross hematuria and acute deterioration of renal function. The diagnosis of poststreptococcal acute glomerulonephritis (PSAGN) was made based on clinical presentation, red blood cell casts, low level of C3 and elevated antistreptolysin 0 titer. Her course was prolonged with serum creatinine increased from the baseline level of 1.1 mg/dl to 2.2 mg/dl, returning toward the baseline level (1.2 mg/dl) after one month. Serum creatinine then started to increase again. The slope of creatinine clearance over time became steeper after the episode of PSAGN. A severe course of PSAGN and subsequent deterioration of renal function have previously been reported in patients with diabetic nephropathy or focal glomerulosclerosis. The present case along with a literature review suggests that individuals with fewer nephrons are at higher risk of severe course and outcome of PSAGN. Conversely, patients with severe PSAGN may be born with fewer nephrons due to low birth weight, unrecognized renal hypoplasia or other unknown causes.

[Colonic duplication revealed by intestinal obstruction due to fecal impaction]. / Duplication colique découverte à l'occasion d'une occlusion intestinale par fécalome.

Colonic duplications are very rare in children. With rectal duplications, they are the rarest locations of alimentary tract duplications, most often diagnosed in the first years of life. We report an unusual case of colic duplication with fecal impaction in a 9-month-old boy revealed by intestinal obstruction. We discuss the main diagnostic and therapeutic aspects of this malformation.

[Osteomyelitis of the mandible and dysosteosclerosis]. / Dysostéosclérose et ostéite chronique de la mandibule.

Dysosteosclerosis is a rare genetic disorder with a poor prognosis. It is an osteochondrodysplasia similar to osteopetrosis but it is typically characterized by platyspondyly and expanded metaphyses. It shows complications such as compression of cranial nerves, especially the optic nerve, hematologic complications, fractures following mild injury, abnormal dentition, neurological and psychological deterioration, in addition to osteomyelitis of the mandible. We report a new case of dysosteosclerosis complicated by osteomyelitis of the lower maxilla.

Indications and results of renal biopsy in children: A single-center experience from Morocco.

The contribution of renal biopsy (RB) is of major importance in the management of many renal diseases in children. Specific indications for performing biopsy in children include steroid-resistant nephrotic syndrome (NS) and secondary nephropathies. The aim of our study was to report the common histological varieties of kidney diseases in children in Morocco. In this retrospective and descriptive study, we included all renal biopsies performed in patients under 16 years in the Department of Pediatrics of Hassan II University Hospital, Fez, Morocco from July 2009 to December 2013. Biopsy samples without glomeruli and those with less than five glomeruli or repeat biopsies on the same patient were excluded from our study. We performed 112 RBs during this period; the average age at the time of RB was 10.05 ± 4 years and the sex-ratio was 1.07. The indications for RB were NS with hematuria and/or renal failure (RF) in 32.1%, active urinary sediment in 21.4%, isolated NS in 15.2%, RF in 13.4% and steroid-resistant NS in 10.7% of cases. Primary nephropathies represented 59.8% of cases, with a predominance of minimal change disease (MCD) seen in 40.2% of the cases. Secondary nephropathies accounted for 27.7% of the cases, with a predominance of lupus nephritis (11.6%), followed by Henoch-Schonlein purpura nephritis (6.2% of cases) and post-streptococcal glomerulonephritis (3.6%). There was one case of hepatitis B virus-associated membranous glomerulonephritis. Chronic glomerulonephritis accounted for 12.5% of the cases. Vascular and tubulo-interstitial nephritis were rare. Our study confirmed that primary glomerular nephropathy was the most common renal disease in children. The most common lesion was MCD. Secondary nephropathies were less frequent, with a predominance of lupus nephritis.

[Subcutaneous emphysema, pneumomediastinum, pneumopericardium, pneumorachis, and pneumoretroperitoneum revealing an unknown foreign body aspiration]. / Emphysème sous-cutané massif, pneumomédiastin, pneumopéricarde, pneumorachis et pneumorétropéritoine révélant une inhalation méconnue d'un corps étranger.

Subcutaneous emphysema develops from the spread of air essentially from the mediastinum into the subcutaneous tissue causing progressive distension and infiltration. Diagnostic and therapeutic delay expose the patient to massive air effusion and risk of compression of cervical and mediastinal structures. The initial mechanism is a breach in the tracheobronchial tree with air diffusion into the interstitial space and along the perivascular spaces toward the mediastinum, and then spread and dissection in the subcutaneous tissue. A tracheobronchial foreign body is a very rare cause of emphysema and is often localized. An association with a combination of epidural emphysema, pneumopericardium, or pneumoretroperitoneum is exceptional. Here, we present a unique case associating massive subcutaneous emphysema, pneumomediastinum, pneumopericardium, pneumorrhachis, and pneumoretroperitoneum in a 3.5-year-old child complicating an unrecognized aspirated foreign body. The extraction of the foreign body resulted in gradual regression of the symptoms and the disappearance of these emphysematous locations.

[Hypercalcemia complicating BCG lymphadenitis: case report]. / Hypercalcémie compliquant une bécégite locorégionale : à propos d'un cas.

One of the side effects of the BCG vaccine is a local infection that may spread to the regional lymph nodes causing lymphadenitis, which can resolve spontaneously without treatment. We report the case of an immunocompetent infant who developed lymphadenitis after administration of the BCG vaccine, complicated with persistent symptomatic hypercalcemia in spite of the usual treatment including corticotherapy. Antituberculous treatment was necessary to reduce this hypercalcemia.

Cloning, expression analysis, and chromosomal mapping of GTPBP2, a novel member of the G protein family.

We have identified a novel gene encoding a protein bearing GTP-binding motifs, the characteristics of GTP-binding proteins (G proteins). The deduced amino acid sequence exhibited the highest overall homology with GTPBP1 and its mouse orthologue GP-1. Hence, we named the gene GTPBP2. The mouse orthologue of this gene, Gtpbp2, showed 98% identity with GTPBP2 over the entire protein (the HGMW-approved nomenclature symbol is GTPBP2 and mouse orthologue is Gtpbp2). A phylogenetic analysis showed GTPBP2 and homologous G proteins (GTPBP1, AGP-1, and CGP-1) did not belong to major G protein families. They formed a distinct branch in the phylogenetic tree, suggesting that they constitute a novel G protein family. A 2. 9kb mRNA was predominantly detected in the testis along with various other organs. In situ hybridization analysis revealed that Gtpbp2 was predominantly expressed in spermatocytes and round-spermatids in the testis. These novel genes were localized to human chromosome 6p21.1-2 and mouse chromosome 17qC-D.

Assignment of 118 novel cDNAs of cynomolgus monkey brain to human chromosomes.

In order to isolate genes that may not be represented in current human brain cDNA libraries, we have sequenced about 20,000 sequence tags of cDNA clones derived from cerebellum and parietal lobe of cynomolgus monkeys (Macaca fascicularis). We determined the entire cDNA sequence of approximately 700 clones whose 5'-terminal sequences showed no homology to annotated putative genes or expressed sequence tags in current databases of genetic information. From this, 118 clones with sequences encoding novel open reading frames of more than 100 amino acid residues were selected for further analysis. To localize the genes corresponding to these 118 newly identified cDNA clones on human chromosomes, we performed a homology search using the human genome sequence and fluorescent in situ hybridization. In total, 108 of 118 clones were successfully assigned to specific regions of human chromosomes. This result demonstrates that genes expressed in cynomolgus monkey are highly conserved throughout primate evolution, and that virtually all had human homologs. Furthermore, we will be able to discover novel human genes in the human genome using monkey homologs as probes.

Clinical evidence of peroxynitrite formation in chronic renal failure patients with septic shock.

The production of both nitric oxide (NO) and superoxide increases in septic shock. The cogeneration of these molecules is known to yield peroxynitrite, which preferentially nitrates tyrosine residues of protein and non-protein origins. We present evidence of peroxynitrite production in septic shock by measuring plasma nitrotyrosine. The nitrotyrosine was measured by an HPLC C-18 reverse-phase column and ultraviolet detector in chronic renal failure patients with or without septic shock, and in healthy volunteers. Plasma nitrite + nitrate (NOx) was also measured to evaluate NO production. Nitrotyrosine was selected as an index for production of peroxynitrite because the direct measurement of peroxynitrite in vivo is difficult. Patients with renal failure were selected in order to minimize nitrotyrosine excretion through the kidney. Plasma nitrotyrosine levels were not detectable in volunteers, 28.0 +/- 12.3 microM (1.6 +/- 1.1% of total tyrosine) in renal failure patients without septic shock, and 118.2 +/- 22.0 microM (5.5 +/- 1.2% of total tyrosine) in patients with septic shock. NOx levels were also higher in patients with septic shock than in patients without septic shock (173.9 +/- 104.7 vs. 75.6 +/- 19.1 microM). Although renal failure itself increases plasma concentrations of both molecules, the higher levels in patients with septic shock suggest that peroxynitrite is generated and the nitration of tyrosine residues is increased in this disease.