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.

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.

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.

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

Specific Oral Tolerance (SOTI) is a promising therapy of food allergy, specially for IgE-mediated cow milk allergy (CMA) in pediatric age. Randomized controlled trials have reported that about 35% of children, at least 5 years of age, became full tolerant to cow milk proteins after SOTI. Regard to the safety, literature describes about 200 children who underwent SOTI, with no fatal events. Nevertheless, a considerable percentage of those children (15%-20%) had to stop SOTI, because of important adverse effects. Numerous protocols have been described, some audacious and other prudent, however all demand an intense commitment either of the doctors and of the families. The information about the follow up of the children who underwent SOTI are still insufficient. For these reasons, we think that SOTI is still an experimental therapy.

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.

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.

Cancer rates after year 2000 significantly decrease in children with perinatal HIV infection: a study by the Italian Register for HIV Infection in Children.

PURPOSE: To evaluate the impact of highly active antiretroviral therapy (HAART) on cancer incidence in HIV-infected children throughout a 20-year period. PATIENTS AND METHODS: An observational population study was conducted on 1,190 perinatally HIV-infected children enrolled onto the Italian Register for HIV Infection in Children from 1985 to 2004 and never lost to follow-up (total observation time, 10,037.66 years). Cancer rates were calculated in the pre-HAART (1985 to 1995), early HAART (1996 to 1999), and late HAART (2000 to 2004) periods and compared using Poisson regression adjusted for age. The proportion of HAART-treated children increased from 4.1% in 1996 to 60.4% in 1999 and to 81.5% in 2004. In the same time frame, the proportion of children receiving HAART for at least 2 years increased from 3.1% to 77.0%. RESULTS: Overall, 35 cancers occurred. Cancer rates were 4.49 (95% CI, 2.37 to 6.64), 4.09 (95% CI, 1.68 to 6.50), and 0.76 (95% CI, 0.00 to 1.80) per 1,000 children per year in 1985 to 1995, 1996 to 1999, and 2000 to 2004, respectively. Notably, there was no significant difference comparing the periods from 1985 to 1995 and 1996 to 1999 (P = .081). By contrast, cancer rates were significantly lower in the period from 2000 to 2004 than in 1996 to 1999 (P < .0001). Results were confirmed by separately analyzing data from children observed from birth (P = .418 for 1985 to 1995 v 1996 to 1999; P = .001 for 1996 to 1999 v 2000 to 2004). CONCLUSION: Dramatically reduced cancer rates were observed only in the late HAART period in parallel to the increasing proportion of children receiving HAART therapy.

Combined diagnostic imaging in a patient with suspected biliary atresia.

The case of a newborn infant of 40 days of age with persistent jaundice and blood chemistry values suggestive of cholestasis is discussed. Liver and bile duct US documented missed visualization of the gallbladder. In the suspicion of biliary atresia, hepatobiliary scintigraphy was performed; it showed preserved hepatocyte function, missed visualization of the gallbladder and absence of intestinal bile flow which confirmed the diagnostic hypothesis. Based on possible diagnostic alternatives, signs perceived and interpreted, are analyzed.

Amoxicillin-induced nephritis and tubulitis in a child.

The occurrence of interstitial nephritis in patients receiving antimicrobial therapy has frequently been reported in adults while it has rarely been described in children. We report the case of a patient treated with amoxicillin who presented hallucinations and serosanguineous blisters during treatment and developed renal failure a few days after discontinuation of the drug. On renal biopsy an interstitial nephritis with tubulitis was identified.