Severe acute pancreatitis in a child with phenylketonuria.

We report for the first time severe acute pancreatitis in a child treated for phenylketonuria (PKU) discovered on neonatal screening. This 2-year-old boy was first hospitalized for bilious vomiting and moderate back pain. Laboratory values included a lipase level of 1.142 U/L, a phenylalanine level of 10mg/dL, and computed tomography revealed Balthazar grade E pancreatitis. Continuous enteral feeding was started on the 3rd day after admission. We observed clinical and biological improvement. Etiologic investigations for pancreatitis returned negative. Despite the severity of the pancreatitis, we did not observe decompensation of the metabolic disease. Specific nutritional management was necessary.

Multifocal pelvic osteomyelitis in a child associated with cat-scratch disease: a case report and review of the literature.

Bone infections in cat-scratch disease (CSD) are uncommon and the diagnosis can be missed. A 3-year-old boy with multifocal pelvic osteomyelitis caused by Bartonella henselae is reported. Serological tests were negative but DNA was detected by polymerase chain reaction assay of a lymph node. A swift recovery followed antibiotic treatment and there was completeresolution within a few months. The literature on 64 cases of osteomyelitis owing to CSD in children and adults since 1954 is reviewed.

Arthroscopy-assisted Trillat procedure for anterior shoulder instability: Surgical technique and preliminary clinical results.

The Trillat procedure performed as open surgery to treat anterior shoulder instability has been proven effective in preventing recurrences and restoring range of motion. An arthroscopically assisted variant of the Trillat procedure is described here, together with the preliminary clinical results in 18 patients treated between 2011 and 2014. After a mean follow-up of 24.7±9.8 months, the clinical outcomes were very satisfactory, with a Walch-Duplay score of 81.5±18.0, a Rowe score of 83.6±16.0, and 94% of satisfied or very satisfied patients. Mean operative time was 55±13min. No recurrences were recorded. As an easily performed procedure that provides good clinical outcomes, the arthroscopically assisted Trillat procedure is a simple and reproducible alternative to arthroscopic Latarjet procedure, which is still reserved for highly experienced surgical teams.

Dramatic Increase in Incidence of Ulcerative Colitis and Crohn's Disease (1988-2011): A Population-Based Study of French Adolescents.

OBJECTIVES: Few data are available to describe the changes in incidence of pediatric-onset inflammatory bowel disease (IBD). The aim of this study was to describe changes in incidence and phenotypic presentation of pediatric-onset IBD in northern France during a 24-year period. METHODS: Pediatric-onset IBD (<17 years) was issued from a population-based IBD study in France between 1988 and 2011. Age groups and digestive location were defined according to the Paris classification. RESULTS: 1,350 incident cases were recorded (8.3% of all IBD) including 990 Crohn's disease (CD), 326 ulcerative colitis (UC) and 34 IBD unclassified (IBDU). Median age at diagnosis was similar in CD (14.4 years (Q1=11.8-Q3=16.0)) and UC (14.0 years (11.0-16.0)) and did not change over time. There were significantly more males with CD (females/males=0.82) than UC (females/males=1.25) (P=0.0042). Median time between onset of symptoms and IBD diagnosis was consistently 3 months (1-6). Mean incidence was 4.4/105 for IBD overall (3.2 for CD, 1.1 for UC and 0.1 for IBDU). From 1988-1990 to 2009-2011, a dramatic increase in incidences of both CD and UC were observed in adolescents (10-16 years): for CD from 4.2 to 9.5/105 (+126%; P<0.001) and for UC, from 1.6 to 4.1/105 (+156%; P<0.001). No modification in age or location at diagnosis was observed in either CD or UC. CONCLUSIONS: In this population-based study, CD and UC incidences increased dramatically in adolescents across a 24-year span, suggesting that one or more strong environmental factors may predispose this population to IBD.

[Desmoid tumors in an adolescent girl with familial adenomatous polyposis]. / Tumeurs desmoïdes dans le cadre d'une polypose adénomateuse familiale chez une adolescente.

Desmoid tumors (DT) are rare and nonmetastasizing fibroblastic neoplasms, characterized by local invasiveness. They occur sporadically or arise in the context of familial adenomatous polyposis (FAP; 5-10% of cases). Most cases develop sporadically in young adults, but some cases also occur in children. We report the case of an adolescent girl with FAP and DT, and we discuss the therapeutic strategies. An adolescent girl with FAP underwent surgery at the age of 14 years with total proctocolectomy. She had a neo-mutation in the APC gene at codon 1068, which is not usually associated with DT. Three years later, she had painful defecations. Imaging showed two abdominal DT. After a multidisciplinary team meeting, the patient was refused for surgery, and medical treatment with antihormonal agents and nonsteroidal anti-inflammatory drugs was started. Imaging 18 months later showed DT stabilization, but the patient had difficulties to control chronic pains, which required morphine treatment, hypnotic sessions, and transcutaneous electric nerve stimulation. This case highlights the importance of DT screening in patients with FAP, mainly after surgery, regardless of their age and genetic mutation. Progress remains to be made in determining DT risk factors and in developing treatment. DT are still difficult to cure because of their potential for local invasion and local recurrence, and need to be managed by a multidisciplinary team.

[Ovarian remnant syndrome: diagnostic difficulties and management]. / Syndrome de l'ovaire rémanent: difficultés diagnostiques et stratégies thérapeutiques.

OBJECTIVES: The ovarian remnant syndrome is a rare condition after unilateral or bilateral oophorectomy, with or without a hysterectomy. This syndrome occurs when a fragment of ovarian tissue is left behind and becomes functional and cystic. The purpose of this study is to report the cases of patients treated surgically for an ovarian remnant syndrome during the last 10 years and to recall the diagnostic and therapeutic difficulties. PATIENTS AND METHODS: A retrospective, observational study was carried out between 1997 and 2006. Seven patients were treated surgically for an ovarian remnant syndrome. Perioperative data analysis (history, surgical techniques, and postoperative follow-up) was carried out. RESULTS: The mean age of the patients was 46 years (36-55). The number of previous abdominal surgical procedures ranged from 2 to 5. The syndrome appeared after a mean period of 4 years and 4 months (range 5 months-12 years) after oophorectomy. Among the 7 patients, 3 had had a previous hysterectomy. Pelvic pain was found in all cases. Gonadotropin-releasing hormones agonists were used in 1 patient without success. Aspiration was performed in 2 cases before surgical treatment. Two patients underwent a laparotomy in the first place. Laparoscopy was performed in 5 cases and laparoconversion was necessary in 1 case. Intraoperative difficulties and anatomic variations were found in all cases. Ureteral catheters were placed in 2 cases. Radiotherapy was performed in 1 patient who had a recurrent ovarian remnant. DISCUSSION AND CONCLUSION: The ovarian remnant syndrome is a rare complication. Surgery, either by laparoscopy or by laparotomy, is the recommended treatment. These operations are often difficult and associated with a high risk of complications. Histologically, remnant ovarian tissue associated with hemorragic corpus luteum cysts is the most common finding. The prevention of the ovarian remnant syndrome is based on rigorous surgical treatment during the oophorectomy so as not to leave behind ovarian tissue.

[Pelvic floor disorders four years after first delivery: a comparative study of restrictive versus systematic episiotomy]. / Troubles périnéaux quatre ans après le premier accouchement: comparaison entre épisiotomie restrictive et systématique.

OBJECTIVE: To compare two policies for episiotomy: restrictive and systematic. PATIENTS AND METHODS: It is a quasi-randomised comparative study between two French university hospitals with contrasting episiotomy policies: one using it restrictively and the second routinely. Population included 774 nulliparous women delivered during 1996 of a singleton in cephalic presentation at a term of 37-41 weeks. A questionnaire was mailed four years after delivery. Sample size was calculated to allow showing a 10% difference in the prevalence of urinary incontinence with 80% power. Main outcome measures were urinary incontinence, anal incontinence, perineal pain and pain during intercourse. RESULTS: We received 627 responses (81%), 320 from women delivered under the restrictive policy, 307 from women delivered under the routine policy. In the restrictive group, 186 (49%) deliveries included mediolateral episiotomies and in the routine group, 348 (88%). Four years after the first delivery, the groups did not differ in the prevalence of urinary incontinence (26% versus 32%), perineal pain (6% versus 8%), or pain during intercourse (18% versus 21%). Anal incontinence was less prevalent in the restrictive group (11% versus 16%). The difference was significant for flatus (8% versus 13%) but not for faecal incontinence (3% for both groups). Logistic regression confirmed that a policy of routine episiotomy was associated with a risk of anal incontinence nearly twice as high as the risk associated with a restrictive policy (OR=1.84, 95 % CI :1.05-3.22). DISCUSSION AND CONCLUSION: A policy of routine episiotomy does not protect against urinary or anal incontinence four years after first delivery.

Pelvic floor disorders 4 years after first delivery: a comparative study of restrictive versus systematic episiotomy.

OBJECTIVE: To compare two policies for episiotomy: restrictive and systematic. DESIGN: Quasi-randomised comparative study. SETTING: Two French university hospitals with contrasting policies for episiotomy: one using episiotomy restrictively and the second routinely. POPULATION: Seven hundred and seventy-four nulliparous women delivered during 1996 of a singleton in cephalic presentation at a term of 37-41 weeks. METHODS: A questionnaire was mailed 4 years after delivery. Sample size was calculated to allow us to show a 10% difference in the prevalence of urinary incontinence with 80% power. MAIN OUTCOME MEASURES: Urinary incontinence, anal incontinence, perineal pain, and pain during intercourse. RESULTS: We received 627 responses (81%), 320 from women delivered under the restrictive policy, 307 from women delivered under the routine policy. In the restrictive group, 186 (49%) deliveries included mediolateral episiotomies and in the routine group, 348 (88%). Four years after the first delivery, there was no difference in the prevalence of urinary incontinence (26 versus 32%), perineal pain (6 versus 8%), or pain during intercourse (18 versus 21%) between the two groups. Anal incontinence was less prevalent in the restrictive group (11 versus 16%). The difference was significant for flatus (8 versus 13%) but not for faecal incontinence (3% for both groups). Logistic regression confirmed that a policy of routine episiotomy was associated with a risk of anal incontinence nearly twice as high as the risk associated with a restrictive policy (OR = 1.84, 95% CI: 1.05-3.22). CONCLUSIONS: A policy of routine episiotomy does not protect against urinary or anal incontinence 4 years after first delivery.

[Primary immunodeficiencies and Bruton's disease genetic analysis: which prospects offers this genetic diagnosis?]. / Déficits immunitaires primitifs et analyse génétique de la maladie de Bruton: quelles perspectives offre ce diagnostic génétique?

Bruton's disease is the most frequently primary X-linked immunodeficiency. Bruton's tyrosine kinase (Btk) is encoded by the XLA gene that when mutated causes bruton's disease. This protein acts in multiple intracellular signaling pathways where the BCR (B-cell receptor) pathway is the most elucidated. Moreover 400 mutations were found and identified as responsible for B-cells differentiation block; consequences are a lack of B-cells in peripheral blood and hypo/agammaglobulinemia. Thus, patients are more susceptible to early and recurring infections occurring before the age of one year. Laboratory testing allow differential diagnosis among primary immunodeficiencies in which others hypogammaglobulinemia. Genetic analyses help physicians for clinical and biological diagnosis, and allow prenatal diagnosis for patient's family. Patient's management is based upon polyclonal immunoglobulin supplementation, infectious diseases prevention and genetic advice.

[Validation of a Bruton's disease genetic analysis method]. / Validation d'une méthode d'analyse génétique de la maladie de Bruton.

Bruton's disease is the most frequently primary X-linked immunodeficiency. Patients are more susceptible to early and recurring infections associated with hypo/agammaglobulinemia and a severe B-cell deficiency. Moreover, 400 mutations were found in the XLA gene which codes the Btk tyrosine kinase and were identified as responsible for Bruton's disease. Genetic study was carried out with one group of patients named NECKER, composed by five XLA patients and two parents whose XLA gene was sequenced by an Italian crew. Results were obtained by PCR of 19 exons and initial/terminal intron's parts, followed by PCR-sequencing with universal primers and sequencing. The results from this study allowed the validation of the sequencing technique by comparing NECKER group data (equivalent results with Italian data). In addition, the mutation multiplicity (described or not, coding/non coding) need an exact analysis that should be given to clinicians through clear and trustful results. In this way, a strategy to analyse untreated results was created based on the mutation type. The genetic analysis could help physicians for uncertain diagnosis in immune defficiencies, allows proposing a genetic advice to the patient's family and the construction of a data base permits a best understanding of this disease.

[Cost effectiveness of Ligasure Precise versus surgical clips during axillary nodal dissection for breast cancer]. / Coût efficacité du Ligasure Precise versus clips chirurgicaux lors du curage axillaire pour cancer du sein.

UNLABELLED: Introduction. The techniques used for axillary node dissection are constantly evolving. The advent of the grip Ligasure Precise raise the question of its cost-effectiveness compared with surgical clips. OBJECTIVE: To compare the effectiveness of Ligasure compared with surgical clips for simple axillary node dissection or Patey procedure in terms of duration of drainage, cost of hospitalization and complications. MATERIAL: and method. Retrospective study extending from January 1, 2003 to December 31, 2004, concerning 187 patients who underwent simple axillary dissection (100) or Patey procedure (87), with use of surgical clips or Ligasure followed by drainage. RESULTS: The use of Ligasure increased the operative cost because its price is higher than that of a clip grip with a refill. Ligasure significantly decreased the duration of drainage in the two groups but there was significantly more abundant fluid loss in the dissection group. The cost of hospitalization related to the choice of the technique of hemostasis (cost of the material + lasted of drainage X price of the day of hospitalization), was not significantly favor of Ligasure. Taking into account the choice of the hemostasis technique and the total duration of hospitalization (material cost + duration of hospitalization X price of the day of hospitalization), there is no significant difference between the two groups. CONCLUSION: This study compares grip Ligasure Precise with surgical clips for axillary dissection. The duration of drainage was significantly shorter with Ligasure Precise but its benefit in terms of fluid loss remains to be shown. The use of Ligasure does not significantly reduce the cost of hospitalization.

Early steps in the formation of neural tissue in ascidian embryos.

Ascidians are simple invertebrate chordates whose lineage diverged from that of vertebrates at the base of the chordate tree. Their larvae display a typical chordate body plan, but are composed of a remarkably small number of cells. Ascidians develop with an invariant cell lineage, and their embryos can be easily experimentally manipulated during the cleavage stages. Their larval nervous system is organised in a similar way as in vertebrates but is composed of less than 130 neurones and around 230 glial cells. This remarkable simplicity offers an opportunity to understand, at the cellular and molecular levels, the ontogeny and function of each neural cell. Here, we first review the organisation of the ascidian nervous system and its lineage. We then focus on the current understanding of the processes of neural specification and patterning before and during gastrulation. We discuss these advances in the context of what is currently known in vertebrates.

[Value of ureteral catheterization in laparoscopy]. / Intérêt du cathétérisme urétéral en coeliochirurgie.

OBJECTIVE: Describe indications and procedures of ureteral retrograde catheter placement in operative laparoscopy. Assess the security that allows this technique to avoid or detect ureteral injury. STUDY DESIGN: A cohort study over a five year period was performed on 1722 patients who underwent an operative gynecologic laparoscopy. SURGICAL TECHNIQUE: When presumptive evidence of ureter adhesiolysis (dense adhesions from previous surgery, endometriosis), or suspicion of iatrogenic ureter transection, laparoscopic procedure was interrupted. A cystoscopy was performed and an internalized stent was inserted. RESULTS: In nine cases (preventive indications), patients required this procedure in adnexal surgery (dense adhesions from previous operations endometriosis), in oophorectomy for residual ovary syndrome and ovarian remnant syndrome and in hysterectomy with an intraligamentary leiomyomata. In one case (diagnostic indication), ureteral catheter placement was performed after use of an endoscopic linear stapler during a laparoscopically assisted vaginal hysterectomy. CONCLUSION: This intra-operative procedure can allow better ureter recognition and its safe dissection when complex operative laparoscopy is foreseen.

Aortic hyporeactivity to norepinephrine induced by lipopolysaccharide in cirrhotic rats: beneficial effects of a non-steroidal anti-inflammatory drug coupled with a nitric oxide donor.

BACKGROUND AND AIMS: Cirrhosis is associated with a hyperdynamic syndrome and arterial vasodilation that is related to nitric oxide (NO) synthase 3 overactivity. Septic shock is frequently associated with cirrhosis and with a vascular induction of NO synthase 2. The aims of this study were to compare the effects of lipopolysaccharide (LPS) in normal and cirrhotic rats, and to test the effects of a nonsteroidal anti-inflammatory drug (NSAID) coupled with a (NO) donor. METHODS: Cirrhotic rats received NO-flurbiprofen, flurbiprofen or vehicle followed by LPS or placebo 15 min later. The heart rate and mean arterial pressure of rats were monitered for 5 h. Thoracic aortic rings were removed and contracted with the use of norepinephrine. Nitric oxide synthase activity was measured in the aorta and stomach of cirrhotic rats. RESULTS: Arterial pressure decreased in cirrhotic rats in the vehicle/LPS and flurbiprofen/LPS groups. After LPS administration, the heart rate of rats increased in all groups. In the aortic rings, LPS induced hyporeactivity to norepinephrine in all groups except the NO-flurbiprofen group. This hyporeactivity was abolished after preincubation with Nw-nitro-L-arginine (L-NNA). Nw-nitro-L-arginine had no effect on norepinephrine-induced vasoconstriction in the NO-flurbiprofen/LPS group. Nitric oxide synthase 2 activity in the stomach and aorta of cirrhotic rats was increased in each group except in the NO-flurbiprofen group after LPS administration. Pretreatment with NO NSAID prevented aortic hyporeactivity to norepinephrine in cirrhotic rats treated with LPS as it probably inhibited the NO synthase 2 induction. CONCLUSIONS: These findings suggest that NO-flurbiprofen has a beneficial hemodynamic effect in cirrhotic rats and may help to prevent LPS aortic hyporeactivity.

Distal deletion of 1p in colorectal tumors: an initial event and/or a step in carcinogenesis? Study by fluorescence in situ hybridization interphase cytogenetics.

Cytogenetics studies have suggested that short arm deletion in chromosome 1 is involved in triggering colorectal tumor development. To elucidate the role of 1p under-representation in the tumoral process, we investigated by fluorescence in situ hybridization interphase cytogenetics, using simultaneously centromeric and p36 telomeric probes for chromosome 1, 27 primary adenocarcinomas, 5 metastases, 5 adenomas and as control 4 normal mucous membranes. The 1p under-representation in paradiploid tumoral cells, interpreted as a 1p deletion, was observed in 8/27 adenocarcinomas, 2/5 metastases and 3/5 adenomas. Thus, in diploid cells 1p deletion was observed in some tumors independently of the stage of the process. The 1p under-representation in total number of examined cells, i.e., diploid and aneuploid, was observed in 14/16 grade B1-B2 tumors, in 5/8 grade C1-C2 tumors, and all grade D tumors (3/3) and all metastases (5/5). There were no correlations with location or histological characteristics of cancers, gender or age of patients. These results show high frequency of 1p under-representation in intestinal tumors, and lead to separate the under-representation of 1p in diploid cells, which correspond to a 1p deletion probably implicated in the initiation of the process, from the under-representation in aneuploid cells, which mainly may be the consequence of complex rearrangements in relation to extension of the malignant process.

Chronic ingestion of a potential food contaminant induces gastrointestinal inflammation in rats: role of nitric oxide and mast cells.

Chronic ingestion of xenobiotics could be pathogenic in the gastrointestinal tract. Recently, we showed that acute low administration of a food contaminant (diquat) induced intestinal secretion involving mast cells and nitric oxide. This work aimed to determine in rats: (1) the influence of a low level (0.1 mg/kg/day per os) chronic ingestion of diquat on gastrointestinal immune cells, and (2) the participation of nitric oxide synthases (NOS) in these effects. Diquat increased both gastric and jejunal myeloperoxidase activities, tissue histamine in vitro release after stimulation by 48/80, and mast cell numbers. Diquat did not alter gastric NOS but increased intestinal inducible NOS (iNOS) activity. L-NAME prevented diquat-induced gastric and intestinal mastocytosis and gastric but not intestinal inflammation. L-NAME reduced gastric constitutive NOS (cNOS) activity and reestablished control iNOS activity. Chronic low level ingestion of diquat induces a low-grade gastric and intestinal inflammation with mastocytosis and enhancement of intestinal iNOS activity.

Inducible nitric oxide synthase activity in colon biopsies from inflammatory areas: correlation with inflammation intensity in patients with ulcerative colitis but not with Crohn's disease.

Nitric oxide synthase (NOS) activities are responsible for the enzymatic conversion of L-arginine into NO and L-citrulline. Relatively low amounts of NO are produced in intestinal epithelial cells or are released from nerve endings. The effects of NO production are related to the maintenance of epithelial integrity and permeability. A pathological role of an increased NO production has been suggested to play a role in models of experimental colitis. In humans, NOS activity in colon mucosa from patients with ulcerative colitis is clearly increased when compared with the activity of the control group. In contrast, an increase of NOS activity in the colon mucosa from patients with Crohn's disease remains controversial. In the present work, we have measured NOS activity in colon biopsies originating from the control group (n = 16), from patients with ulcerative colitis (n = 23) and Crohn's disease (n = 17) using the radiochemical method of the conversion of L-[guanido-14C] arginine into radioactive L-citrulline. In the control group, NOS activity was mainly of the inducible type (88% of total NOS activity) since it was characterised by its insensibility to the absence of calcium in the assay medium. In colon biopsies originating from patients with ulcerative colitis, inducible NOS activity was increased 3 fold (p < 0.005) and in patients with Crohn's disease, inducible NOS activity was increased 5 fold (p < 0.005). Correlations between NOS activity in colon biopsies and the intensity parameters of the disease i.e. Truelove index, endoscopic score and histological parameters were evidenced in patients with ulcerative colitis. In contrast, in patients with Crohn's disease, the high inducible NOS activity was not correlated with any intensity parameters of the disease. From these data, we concluded that although inducible NOS activity was increased several fold in colon biopsies originating from patients with both ulcerative colitis and Crohn's disease, a correlation between this activity and the severity of bowel inflammation was not found in either cases.

Dihydropyrimidine dehydrogenase activity in normal, inflammatory and tumour tissues of colon and liver in humans.

BACKGROUND/PURPOSE: Dihydropyridmidine dehydrogenase (DPD) is the initial and rate-limiting enzyme in the catabolism of 5-fluorouracil (5FU). Although this catabolism is likely to occur in the liver in humans, there may be a local inactivation in tumours, modifying the efficacy of 5FU. The aim of this study was to examine the DPD activity in normal, inflammatory and malignant tissues from both the colon and the liver to assess the modifications of DPD activity in the process of tumourigenesis. METHODS: DPD activity was evaluated in 107 patients, corresponding to 194 samples (70 colorectal tumour and normal colon, nine metastases secondary to a colon cancer, ten inflammatory colon, 20 samples of normal liver, seven from primary liver cancer, and eight from inflammatory liver). DPD activity was determined using an enzymatic reaction followed by analysis of 5FU and its catabolite dihydro-5FU by high-performance liquid chromatograph. Results were expressed as pmol of 5FU catabolized/min x mg protein. RESULTS: DPD was highly variable in tumour and normal tissues, both from colon and liver. In colon, the correlation between DPD activity in tumour and normal mucosa was weak, even if it was statistically significant due to the higher number of samples. In inflammatory colon tissue (ulcerative colitis or Crohn's disease), DPD activity was significantly higher than in normal tissue (P = 0.006). In liver metastases from colon cancer, DPD activity was not significantly different from that observed in primary colon tumour (P = 0.32). In liver, DPD activity was significantly lower in primary liver tumour than in uninvolved liver specimens (P = 0.001). In inflammatory liver tissue (hepatitis), DPD activity ranged between normal and tumour tissues, and did not differ significantly either from normal tissue or primary liver cancer. CONCLUSIONS: DPD activity was modified in colon and in liver during a pathological process and the dysregulation of DPD increased from a benign to a malignant tissue.