Carlo Fundarò

Prevalence of small intestinal bacterial overgrowth in children with irritable bowel syndrome: a case-control study.

OBJECTIVE To assess the prevalence of small intestinal bacterial overgrowth (SIBO) in children affected by irritable bowel syndrome (IBS). STUDY DESIGN Consecutive children affected by IBS according to Rome II criteria (n = 43) were enrolled at the Gemelli Hospital, Catholic University of Rome. The control population (n = 56) consisted of healthy subjects without IBS symptoms, similar to patients for age, sex, and social background. All subjects underwent lactulose/methane breath test (LBT) to assess small intestinal bacterial overgrowth. RESULTS The prevalence of abnormal LBT result was significantly higher in patients with IBS (65%, 28/43) with respect to control subjects (7%, 4/56; OR 3.9, 95% CI 7.3-80.1, P < .00001). Patients with abnormal LBT showed a trend toward a worse visual analog scale score with respect to children with IBS without SIBO, but a significant statistical difference was observed only for bloating. CONCLUSIONS Results from this study suggest a significant epidemiologic association between SIBO and IBS in childhood. Placebo-controlled interventional studies with antibiotics used to treat bacterial overgrowth are warranted to clarify the real impact of the disease on IBS symptoms.

Celiac Disease: What’s New about It?

In the present review we will try to summarize the clinical and diagnostic features of celiac disease (CD) as well as the new findings on extraintestinal manifestation. CD is an immune-mediated enteropathy caused by a permanent gluten intolerance. In the last years, the diagnosis is becoming more and more frequent because of the recognition of ‘new’ symptoms and associated extraintestinal manifestations. Classical CD is dominated by symptoms and sequelae of gastrointestinal malabsorption. In the ‘atypical forms’, the extraintestinal features usually predominate, with few or no gastrointestinal symptoms. Silent CD refers to asymptomatic patients with a positive serologic test and villous atrophy on biopsy. This form is detected by screening of high-risk individuals, or villous atrophy occasionally may be detected by endoscopy and biopsy conducted for another reason. The potential form is diagnosed in groups at risk including relatives of celiac patients, Down syndrome and autoimmune diseases. Latent CD is defined by positive serological tests but not histological changes on biopsy. These individuals are asymptomatic, but later may develop symptoms and/or histological alterations. Recognition of atypical manifestations of CD is very important because many cases can remain undiagnosed with an increased risk of long-term complications.

Specific oral tolerance induction (SOTI) in pediatric age: clinical research or just routine practice?

Miceli Sopo S, Onesimo R, Giorgio V, Fundarò C. Specific oral tolerance induction (SOTI) in pediatric age: Clinical research or just routine practice?
Pediatr Allergy Immunol 2010: 21: e446–e449.
© 2009 John Wiley & Sons A/S

Water-immersion technique during standard upper endoscopy may be useful to drive the biopsy sampling of duodenal mucosa in children with celiac disease.

Objective: To evaluate the accuracy of the water-immersion technique during upper endoscopy in recognizing the duodenal villous pattern in a series of children who were undergoing endoscopy to obtain duodenal biopsy for histological analysis. Materials and Methods: The water-immersion technique was performed in 19 children. Endoscopic findings were compared with histology. Results were assessed on per biopsy analysis and per patient analysis, taking into account the worst endoscopic finding in each patient and correlating it with the worst histological diagnosis. Results: Per biopsy analysis: A total of 57 biopsy specimens were obtained and assessed. The endoscopic duodenal investigation correctly identified 53 areas (93%), which corresponded to histology, giving it an accuracy rate of 93%. Per patient analysis: The worst histology of the duodenal bulb was predicted by endoscopy in 18 of the 19 enrolled patients (95%), whereas the worst histopathological lesion of the second portion of the duodenum was recognized in 100% of cases. On the whole, therefore, the endoscopist suggested a diagnosis of celiac disease in 11 patients, with both positive and negative predictive values of 100%. Conclusions: The water-immersion technique during upper endoscopy is highly accurate in recognizing the duodenal villous pattern in subjects who need a duodenal investigation. Our findings encourage a cost-saving and patient-retaining approach to the diagnosis of celiac disease by driving biopsy and reducing the number of duodenal samplings.

Chromosome 9p deletion syndrome and sex reversal: novel findings and redefinition of the critically deleted regions

Deletions of the short arm of chromosome 9 are associated with two distinct clinical entities. Small telomeric 9p24.3 deletions cause genital anomalies in male subjects, ranging from disorder of gonadal sex to genital differentiation anomalies, while large terminal or interstitial deletions result in 9p‐malformation syndrome phenotype. The critical region for non‐syndromic 46,XY sex reversal was assigned to a 1 Mb interval of chromosome 9p, extending from the telomere to the DMRT genes cluster. The 9p‐syndrome was assigned to bands 9p22.3p24.1, but a phenotypic map has not been established for this condition, probably because of the lack of detailed molecular and/or phenotypic characterization, as well as frequent involvement of additional chromosome rearrangements. Here, we describe a unique patient with a small isolated 9p terminal deletion, characterized by array‐CGH and FISH, who shows a complex phenotype with multiple physical anomalies, resembling the 9p‐syndrome, disorder of sex development with gonadoblastoma, congenital heart defect and epilepsy. The observed deletion includes the 46,XY sex‐reversal critical region, excluding the region so far associated with the 9p‐syndrome. Genotype–phenotype correlations are tentatively established comparing our patient to seven other previously reported males with isolated terminal 9p deletions, finely defined at a molecular level. Our observations expand the 9p deletion clinical spectrum, and add significantly to the definition of a 9p‐syndrome critical region.

Is heel prick as safe as we think

Purulent lymphadenitis is rare in newborn and is associated with prematurity and invasive procedure. Neonatal staphylococcal infections due to skin interruption during intramuscular vitamin K administration and national metabolic screening programme (heel prick or Guthrie card test) have been already previously described. This is a report of a premature infant who developed an inguinal adenitis as a result of late complications from heel pricks. The diagnosis was made on clinical grounds and confirmed by ultrasound scans. Staphylococcus aureus was isolated. Bacteremia did not occur and the lymphadenitis had a complete resolution with antimicrobial therapy. The heel prick is a well-established procedure in neonatal practice, nevertheless it is not risk-free. The attention to signs of infections is important to avoid complications such as purulent lymphadenitis, abscess formation and septicemia. Best practice prevention and control in minimising the risk of infections are the most important intervention to prevent this complication.

Combination antiretroviral therapy in human immunodeficiency virus-infected pregnant women

The conclusions of McGowan, et al (Obstet Gynecol 1999;94:641–6) may be questionable. A viral load change of 20.8 (22.6–0) log and a median viral load at delivery of 3.2 (2.6–5.2) log and an undetectable viral load at delivery in only 43% of women do not support “good control” of viral replication. In fact, these data may be considered criteria for changing therapy. Clinical deterioration, confirmed by AIDS-related events observed in two women, suggests antiretroviral therapy failure. Failure of a combination antiretroviral therapy may be related to many factors including altered absorption or metabolism of drugs (as may occur in pregnancy), multidrug pharmacokinetics (as may occur in drug addicts using methadone or benzodiazepines), or poor patient adherence. Active use of illicit drugs is undoubtedly related to poor adherence to therapy protocols and this may induce drug resistances. Therapeutic options may be greatly reduced after pregnancy. Moreover, we believe that active use of illicit drugs is a confounding factor for evaluating the effect of combination antiretroviral therapy on the newborn. From December 1997 to November 1999 we followed 12 non–drug-addicted pregnant women who used combination antiretroviral therapy (including protease inhibitors) and their newborns. Nine women achieved undetectable HIV RNA at delivery. Three women with incomplete adherence, a previous experience with zidovudine monotherapy (in two cases), and a noncontemporary starting of treatment had 0, 0.4, and 0.8 log HIV RNA reduction. The follow-up of these women is ongoing, but currently none has developed any HIVrelated event. Newborns exhibited low birth weight (z score 20.175, range 1.93 to 23.41); no major adverse events were observed at birth. HIV RNA and proviral DNA were negative in all infants at birth and in the evaluated babies at 6 months. The follow-up of these babies is ongoing, but no clinical events have developed yet. In our experience, combination therapy during pregnancy is useful for the control of maternal disease itself and in reducing vertical transmission of HIV. Thus, multicenter studies are needed to confirm the safety and the efficacy of such protocols.

Can MII–pH values predict the duration of treatment for GERD in preterm infants?

BACKGROUND Little is known regarding the prognostic role of Multichannel Intraluminal Impedance and pH monitoring (MII/pH) parameters in preterm infants with Gastro-Esophageal Reflux Disease (GERD). AIM Our study aimed to evaluate the relationship between MII/pH variables and the duration of pharmacological therapy for GERD, in preterm infants with gestational age (GA) ≤34weeks. SUBJECTS, STUDY DESIGN, OUTCOME MEASURES We retrospectively reviewed data of all newborns with GA ≤34weeks that underwent MII/pH in our Neonatal Intensive Care Unit (NICU) and pharmacological treatment for GERD. We included them in a 12-month follow-up program. MII/pH parameters were used as independent variables and the duration of pharmacological therapy as dependent variable in linear regression models. RESULTS 16 patients (GA 28.4±1.8weeks, BW 1122±427g) were enrolled into the study. Regression analysis performed on all reflux events reported a significant correlation between the duration of pharmacological treatment and MII-BEI (r(2)=0.36, p=0.01) and MII-reflux frequency (r(2)=0.33, p=0.02). Moreover, regression analysis performed on all events classified according to the corresponding pH change - acidic (ac.), weakly acidic (w.ac.) or weakly alkaline (w.a.) - showed a significant correlation between the duration of pharmacological treatment and MII-w.ac.BEI (r(2)=0.26, p=0.05), MII-w.ac. reflux frequency (r(2)=0.44, p=0.01), and MII-proximal w.ac. reflux frequency (r(2)=0.35, p=0.02). No statistically significant correlation was found between pH-Reflux Index and the duration of treatment. CONCLUSION The study shows how, in our population of preterm infants, MII-parameters could have not only a diagnostic role, but also a prognostic value in terms of the duration of pharmacological treatment.

Drug Addiction in Pregnancy: 13 Years of Experience

In this retrospective study, we review our data on 203 drug-addicted pregnant patients, considering two different aspects of the question: maternal and fetal. We report the findings relative to maternal metabolic, endocrinological, neuroendocrinological and immunological studies performed in our department over the past 13 years. Moreover, we study fetal involvement in drug-addicted pregnancy and report the findings of our fetal behavior and urodynamic studies. The last section of this study deals with perinatal outcome. In particular, we report a high incidence of small-for-gestational-age fetuses and premature deliveries.

A crying baby: not simply infant colic

Hypertrophic pyloric stenosis is a relatively common condition, but atypical presentations can present a diagnostic challenge. We describe the case of a 9-week-old Latin male infant who presented with a 2-day history of intermittent crying and poor feeding. He was suspected to have intussusception but was affected by and successfully treated for hypertrophic pyloric stenosis. Diagnostic tools of atypical HPS cases are discussed.