tst1-positive ST22-MRSA-IVa in healthy Italian preschool children.

A survey was performed in May 2013 to assess methicillin-resistant Staphylococcus aureus (MRSA) nasal colonization in healthy children attending 26 municipal daycare centres in Palermo, Italy. Of the 500 children, ten (2 %) tested positive. Eight MRSA isolates were tst1-positive ST22-MRSA-IVa, spa t223; the other two isolates were identified as ST1-IVa and ST398-V, respectively. tst1-positive ST22-MRSA, spa t223 has been previously identified only in the Middle Eastern area.

Meconial peritonitis in a rare association of partial ileal apple-peel atresia with small abdominal wall defect.

Intestinal atresia type III B (apple peel) and gastroschisis are both congenital malformations who require early surgical correction in neonatal age. Their association is very rare. We present the case of a full term infant with partial apple peel ileal atresia and a small defect of the anterior abdominal wall, complicated by in utero intestinal perforation and subsequent meconial peritonitis. We observed a partial atresia of small intestine, with involvement of terminal ileus savings of jejunum and a large part of the proximal ileum, small anterior abdominal wall defect with herniation of few bowel loops, intestinal malrotation. Paralytic ileus and infections are the main causes of morbidity and mortality at neonatal age. In our case, in spite of the mild phenotype, prognosis has been complicated by the onset of functional bowel obstruction, caused by chemical peritonitis resulting from contact with either amniotic fluid and meconium.

Epidermal inclusion cyst of the penis after urethroplasty causing an urethro-cutaneous fistula: a first case report.

Penile epidermal cysts are uncommon. We report a pediatric case of epidermal inclusion cyst of the penis after urethroplasty, responsible of the appearance of an urethro-cutaneous fistula. In our opinion, surgical excision of epidermal inclusion cyst after urethroplasty must be performed as quickly as possible to avoid occurrence of postoperative complications.

Newborn screening of inherited metabolic disorders by tandem mass spectrometry: past, present and future.

Inborn errors of metabolism are inherited biochemical disorders caused by lack of a functional enzyme, transmembrane transporter, or similar protein, which then results in blockage of the corresponding metabolic pathway. Taken individually, inborn errors of metabolism are rare. However, as a group these diseases are relatively frequent and they may account for most of neonatal mortality and need of health resources. The detection of genetic metabolic disorders should occur in a pre-symptomatic phase. Recently, the introduction of the tandem mass spectrometric methods for metabolite analysis has changed our ability to detect intermediates of metabolism in smaller samples and provides the means to detect a large number of metabolic disorders in a single analytical run. Screening panels now include a large number of disorders that may not meet all the criteria that have been used as a reference for years. The rationale behind inclusion or exclusion of a respective disorder is difficult to understand in most cases and it may impose an ethical dilemma. The current organization is an important tool of secondary preventive medicine, essential for children's healthcare, but the strong inhomogeneity of the regional models of screening applied today create in the Italian neonatal population macroscopic differences with regards to healthcare, which is in effect mainly diversified by the newborn's place of birth, in possible violation of the universal criterion of the equality of all citizens. Carefully weighed arguments are urgently needed since patient organizations, opinion leaders and politicians are pressing to proceed with expansion of neonatal population screening.

Incidence and risk factors of bacterial sepsis and invasive fungal infection in neonates and infants requiring major surgery: an Italian multicentre prospective study.

BACKGROUND: Limited data are currently available on the incidence rates and risk factors for bacterial sepsis and invasive fungal infections (IFIs) among neonates and infants undergoing major surgery. AIM: To assess the incidence of bacterial sepsis and IFI, fungal colonization, risk factors for sepsis, and mortality in neonates and infants aged <3 months undergoing major surgery. METHODS: A multicentre prospective study was conducted involving 13 level-3 neonatal intensive care units in Italy, enrolling all infants aged ≤3 months undergoing major surgery. FINDINGS: From 2018 to 2021, 541 patients were enrolled. During hospitalization, 248 patients had a bacterial infection, and 23 patients had a fungal infection. Eighty-four patients were colonized by fungal strains. Overall, in-hospital mortality was 2.8%, but this was higher in infected than in uninfected infants (P = 0.034). In multivariate analysis, antibiotic exposure before surgery, ultrasound-guided or surgical placement of vascular catheters, vascular catheterization duration, and gestational age ≤28 weeks were all associated with bacterial sepsis. The risk of IFI was markedly higher in colonized infants (odds ratio (OR): 8.20; P < 0.001) and was linearly associated with the duration of vascular catheterization. Fungal colonization in infants with abdominal surgery increased the probability of IFI 11-fold (OR: 11.1; P < 0.001). CONCLUSION: Preventive strategies such as early removal of vascular catheters and the fluconazole prophylaxis should be considered to prevent bacterial and fungal sepsis in infants undergoing abdominal surgery, and even more so in those with fungal colonization.

Evaluation of cytokine polymorphisms (TNFalpha, IFNgamma and IL-10) in Down patients with coeliac disease.

BACKGROUND: In Down syndrome there is an increased prevalence of coeliac disease, but the reasons for this association are yet unknown. AIMS: To evaluate a possible correlation between TNFalpha, IFNgamma and IL-10 genotype polymorphisms with the susceptibility to coeliac disease in Down syndrome patients. METHODS: Single nucleotide polymorphisms of TNFalpha (-308G-->A promoter region), IFNgamma (+874T-->A promoter region) and IL-10 (-1082G-->A promoter region) have been studied in 10 Down patients with coeliac disease, in 40 Down patients without coeliac disease and in 220 healthy controls. Clinical features were also studied in coeliac disease-Down syndrome patients. RESULTS: The 10 coeliac disease-Down syndrome patients had a biopsy proven coeliac disease afterward a serological testing positive to antigliadin, antiendomysium and antitransglutaminase antibodies. Intestinal biopsy showed total atrophy in 6/10 and partial villous atrophy in 4/10 of them. All coeliac disease-Down syndrome patients had silent forms of coeliac disease and classical trisomy 21. No significant differences were observed for the IFNgamma and IL-10 polymorphisms in the studied groups. A significant trend for increase of TNFalpha -308A positive frequency was observed in coeliac disease-Down syndrome patients compared to healthy controls (p=0.043). CONCLUSIONS: Single nucleotide polymorphisms of IFNgamma and IL-10 do not play a role in predisposing Down syndrome patients to coeliac disease, while the TNFalpha -308 allele could be an additional genetic risk factor for coeliac disease in trisomy 21.

New syndrome: autosomal dominant microcephaly and radio-ulnar synostosis.

To date, the combination of microcephaly and radio-ulnar synostosis has not been recognized as a distinct clinical and genetic entity. We report on 4 familial cases with this previously undescribed combination of defects, showing autosomal dominant inheritance (Fig. 1).

Autosomal recessive severe dwarfism in a Sicilian girl: a new form of osteodysplastic primordial dwarfism?

A new type of osteodysplastic primordial dwarfism is delineated in a 5-year-old female child with severe growth retardation of prenatal onset, gross skeletal changes, a non-Seckel facial phenotype, and presumed autosomal recessive inheritance.

Lymphoproliferative disorders in Sotos syndrome: observation of two cases.

Sotos syndrome is included among the overgrowth disorders, most of which have an increased risk of neoplasms. Sotos syndrome does not appear to be related to a specific tumor type, but rather to the development of solid tumors of ectodermal or mesodermal origin in general. We report on two Sotos syndrome patients who developed a non-Hodgkin lymphoma and an acute lymphoblastic leukaemia, respectively. Our experience suggests that there may exist a high frequency of lymphoproliferative disorders in Sotos syndrome, and points out the importance of a long-term follow-up of Sotos syndrome patients, to detect a possible neoplastic evolution.

Factors related to amphotericin-B-induced rigors (shivering)

Amphotericin-B is the only parenteral agent currently available to treat systemic fungal infections. Pyrogenesis, accompanied by severe shivering, is a distressing side effect. Possible risk factors of developing this reaction have not been reported. A case series was developed to document the occurrence and duration of shivering in patients who received amphotericin-B and to investigate whether these responses were associated with a diagnosis of diabetes mellitus, receipt of insulin or beta blockers, the amount of body fat content, an immunocompromised state, age, and gender. Medical records were reviewed and abstracted for patients who received 20 milligrams or more of amphotericin-B per day for at least 10 consecutive days between January 1, 1984, and September 1, 1988. Results indicated that a diagnosis of diabetes, insulin therapy, and advancing age were inversely associated with the amphotericin-B-induced rigors response. Shivering was noted to occur first at the test dose, with the percentage of patients who shivered increasing with each successive dose (this peaked at the fifth therapeutic dosage). Of the factors under study, only advancing age appeared to be related to the duration of shivering. It is possible that identification of the descriptive characteristics of amphotericin-B-induced rigors will facilitate the nursing care of patients who receive this treatment; it also may be an important first step in the identification of risk factors for this clinical complication.

Intraperitoneal alpha interferon for ovarian cancer: a case report.

Though therapeutic advances have been made in the treatment of ovarian carcinoma, success at achieving a cure in women with advanced disease has been elusive. Since advanced ovarian carcinoma is frequently confined to the peritoneum, the use of intraperitoneal (IP) chemotherapy is being studied. Dose-limiting toxicity and extended nausea and vomiting associated with intraperitoneal chemotherapy are problems with several of the drugs under study. The most beneficial drug for intraperitoneal use would be one that offers the maximum pharmacologic value without toxicity. An investigation at the Dartmouth-Hitchcock Medical Center in New Hampshire is exploring the use of alpha interferon in treating advanced ovarian carcinoma. This case report describes an individual's course of treatment and the challenges in managing the administration of the IP immunotherapy, anticipating problems, and identifying interventions necessary to achieving optimal patient comfort during this Phase I-II investigation.

Evaluating needlestick injuries in nursing personnel. Development of a questionnaire.

1. Needlestick injuries are the most common type of occupational injury experienced by nursing personnel. Sixty percent to 90% of needlestick injuries in medical centers are incurred by nurses. 2. Future increases in patient acuity and more advanced technology are likely to increase the risk of nurses experiencing accidental needlesticks. 3. Needle devices that require disassembly of equipment, especially those related to intravenous piggybacks and prefilled cartridge syringes, are placing nurses at an increased risk for injury. 4. Needle-less devices or devices which keep the needle recessed except during intended use have been designed. The assessment instrument can identify needlestick injury incidence and trends and can be used to evaluate and justify the increased costs of purchasing new safety equipment.

[Authors' experience with the role of preoperative ultrasonography in the study of benign lesions of the gallbladder]. / La nostra esperienza sul ruolo dell'esame ecografico preoperatorio nello studio delle lesioni parietali benigne della colecisti.

The benign parietal lesions of the gallbladder are diseases that, as known, found their pathogenetic moment on hyperplasia of constituent tissues of the gallbladder wall and comprises the controversial chapter of "cholecystosis". The Authors, to contribute to their better clinical and pathogenetic staging, report their experience on 25 cases. They debate on the usefulness of ultrasonography, surely a diagnostic progress for these formations, which are small structures more or less echogenic and that they develop in the gallbladder; the echographic imaging, for its sharpening, has substituted the cholecystographic procedure. The aim of present study is to analyse the results obtained by using echography as diagnostic preoperative procedure of "cholecystosis". The ultrasonography supplies the surgeon an indication to prophylactic surgical treatment as single, effective procedure in preventing the gallbladder carcinoma.

[A case of appendiceal mucocele associated with adenocarcinoma of the left colon]. / Su di un caso di mucocele appendicolare associato ad adenocarcinoma del colon sinistro.

The Authors report an unusual case of appendiceal mucocele associated with a large bowel carcinoma occasionally observed in the course of examinations for the first pathology. Due to the rareness of the association of the two affections, the clinical problems and pathogenetic theories are reviewed, also analysing the histological differences of the various mucoceles which need a different surgical approach. They conclude stating that the preoperative diagnosis of appendiceal mucocele, is easier today than in the past, thanks to the routine use of ultrasonography and tomography through which it is possible to reveal concomitant pathologies often clinically silent.

Successful control of an outbreak of colonization by Klebsiella pneumoniae carbapenemase-producing K. pneumoniae sequence type 258 in a neonatal intensive care unit, Italy.

This article reports an outbreak of colonization by Klebsiella pneumoniae carbapenemase-producing K. pneumoniae (KPC-Kp) sequence type (ST) 258 in a neonatal intensive care unit (NICU) in Palermo, Italy. KPC-Kp ST258 was detected by an active surveillance culture programme. Between 18th September and 14th November 2012, KPC-Kp was isolated from 10 out of 54 neonates admitted in the outbreak period. No cases of infection were recorded. Male sex was associated with colonization, whereas administration of ampicillin- sulbactam plus gentamicin was protective. Infection control interventions interrupted the spread of KPC-Kp without the need to close the NICU to new admissions.

Laboratory investigations in genetic syndromes: examples of clinical approach in the neonatal unit.

Contiguous gene deletion syndromes: the importance of an accurate genetic definition for a careful clinical monitoring. Contiguous gene deletion syndromes are so named because the deletion manifests as a distinctive cluster of otherwise unrelated single-gene disorders in the same subject. An accurate genetic definition of the deleted region is extremely important for the appropriate management of these patients and for unravelling the function of the involved genes. The microarray-based comparative genomic hybridization (CGH arrays) analysis is the actual molecular method able to accurately define the bounds of a deleted region, since it allows an evaluation of DNA copy number alterations associated to chromosome abnormalities, with higher resolution than classical cytogenetics or chromosomal banding. The clinical presentation, the diagnostic course, the genetic investigations and the follow-up of a patient harbouring a contiguous gene deletion syndrome will be presented during the seminar. The newborn with ambiguous genitalia: diagnostic approach toward clinical and genetic definition. Disorders of sexual differentiation may depend on several different causes and pathogenetic mechanisms, which may interfere at different stages of the complex pathway of sexual determination and differentiation. Several genes are involved, together with hormones and receptors. The main disorders of sexual differentiation are characterized by dissociation between chromosomes and gonads or gonads and external genitalia appearance. Clinical phenotypes may be distinguished in true hermaphroditism and male or female pseudohermaphroditism. Diagnostic definition is based on clinical and instrumental evaluation and laboratory investigations (hormonal, cytogenetic and molecular genetic investigations). Early diagnosis may allow an appropriate medical and/or surgical treatment, involving a multidisciplinary equipe. The correct gender assessment must be guided by clinical and genetic diagnosis and, in the meantime, by the possibility of anatomic and functional recovery and the future reproductive opportunities.

Genetic syndrome suspicion: examples of clinical approach in the neonatal unit.

Overgrowth syndromes: the practical clinical approach. Excessive growth can be present in a variety of medical conditions as result of abnormal fetal metabolism (i.e., maternal gestational diabetes) or of an overgrowth syndrome. Within this latter group of diseases, a LGA newborn requires a complex differential diagnosis encompassing several syndromes, such as Beckwith-Wiedemman, Sotos, Weaver, Simpson-Golabi-Behmel, Perlman, and Bannayan-Riley-Ruvalcaba. Partial or global overgrowth, other dysmorphisms, abdominal organs anomalies, as well as benign and malignant tumors are the common issues to examine for the diagnosis and the monitoring of all these disorders. The molecular bases of these conditions, even if partially known so far, can help in explaining the clinical features and prognosis. The diagnostic course, the genetic investigations and the follow-up of a LGA patient will be presented during the seminar. A wide clinical spectrum from esophageal atresia to VACTERL association. Oesophageal atresia (OA) occurs approximately in 1 in 3000 live births. It can be clinically divided into isolated and syndromic, when associated with other features. The aetiology is largely unknown and is likely to be multifactorial, however, various clues have been uncovered in animal experiments particularly defects in the expression of the gene Sonic hedgehog (Shh). The vast majority of cases are sporadic and the recurrence risk for siblings is 1%. Survival is directly related to birth weight and to the presence of a major cardiac defect. The VACTERL association refers to anomalies of the bony spinal column (V), atresias in the gastrointestinal tract (A), congenital heart lesions (C), tracheoesophageal defects (TE), renal and distal urinary tract anomalies (R) and limb lesions (L). The overall phenotype of a series of newborn patients we observed may vary widely, reflecting the aetiologic heterogeneity of this group of conditions. Therefore, possible additional defects must be accurately investigated in all newborns with OA.