A cross-sectional nationwide survey on esophageal atresia and tracheoesophageal fistula.

BACKGROUND: Our study aims at disclosing epidemiology and most relevant clinical features of esophageal atresia (EA) pointing to a model of multicentre collaboration. METHODS: A detailed questionnaire was sent to all Italian Units of pediatric surgery in order to collect data of patients born with EA between January and December 2012. The results were crosschecked by matching date and place of birth of the patients with those of diagnosis-related group provided by the Italian Ministry of Health (MOH). RESULTS: A total of 146 questionnaires were returned plus a further 32 patients reported in the MOH database. Basing on a total of 178 patients with EA born in Italy in 2012, the incidence of EA was calculated in 3.33 per 10,000 live births. Antenatal diagnosis was suspected in 29.5% patients. 55.5% showed associated anomalies. The most common type of EA was Gross type C (89%). Postoperative complications occurred in 37% of type C EA and 100% of type A EA. A 9.5% mortality rate was reported. CONCLUSIONS: This is the first Italian cross-sectional nationwide survey on EA. We can now develop shared guidelines and provide more reliable prognostic expectations for our patients.

Smoking, polyuria and impaired vision.

The pituitary gland can be involved in a variety of medical conditions, including metastatic tumors. Metastases to the pituitary gland, although absolutely rare, more commonly affect the posterior pituitary lobe and so frequently present with diabetes insipidus. We report on a 48-year-old male heavy smoker patient suffering from sudden onset of polyuria and persistent thirst. Laboratory results revealed central diabetes insipidus. Computed tomography (CT) scan of the brain showed a mass located in the sella turcica and in the suprasellar region. CT scan of the chest showed a mass in the right superior lobe with mediastinal lymphadenopathy, with bronchoscopy and biopsy features of pulmonary adenocarcinoma. The patient received radiotherapy on the pituitary gland and adjuvant chemotherapy, and as intrasellar and suprasellar mass decreased in size, urinary output was accordingly reduced. Therefore, is that in patients with risk factors for cancer and sudden onset of diabetes insipidus pituitary metastasis should be taken into account in differential diagnosis.

Current outcome of antenally diagnosed cystic lung disease.

BACKGROUND/PURPOSE: The natural history of parenchymal lung lesions such as congenital cystic adenomatoid malformation (CCAM) and pulmonary sequestration (PS) has been altered by the advent of antenatal ultrasonography. Initial reports were characterized by a high (about 30%) incidence of adverse features (eg, hydrops) and a poor outcome and did not accord with our recent experience. The authors have reviewed the outcome of fetuses that had been diagnosed in a large tertiary referral fetal medicine unit with the aim of delineating current experience. The term cystic lung disease was used throughout to avoid unjustifiable histologic precision. METHODS: The scans of all fetuses that had been diagnosed with cystic lung disease between January 1995 and July 2001 were reviewed. The outcome of each pregnancy was established, and, where possible, all infants underwent appropriate investigations, including thoracic computed tomography (CT) scans. RESULTS: Sixty-seven fetuses had a cystic lung abnormality diagnosed from January 1995 to July 2001. The median (range) age at diagnosis was 21 (19 to 28) weeks. The lesion was right sided in 29 (43%), left in 36 (54%), and bilateral in 2 (3%); it was characterized as dominantly macrocystic in 27 (40%), microcystic in 35 (52%), and mixed in 5 (8%). Mediastinal shift was present in 30 fetuses (45%). Severe signs of fetal distress (eg, hydrops) were present in 5 fetuses (7%). Antenatal intervention was performed in 4 fetuses (thoraco-amniotic shunts [n = 3] and percutaneous intrauterine laser therapy [n = 1]). Sixty-four (96%) of the fetuses were born alive. There was 1 termination of pregnancy and 2 intrauterine deaths (all severe microcystic lesions). Forty-two infants (63%) underwent thoracotomy and appropriate excisional surgery at a median of 7.5 months (range, 1 day to 34 months). Two infants (which included the fetus having intrauterine laser therapy) died early in the postnatal period. Both were large microcystic lesions and had antenatal features of severe fetal distress. Twelve infants were investigated in the postnatal period but did not undergo surgery. Ten infants were not appropriately investigated or were lost to follow-up. Histologic examination showed definitive diagnostic features of CCAM (n = 25) or PS (n = 6). Other lesions with hybrid features of both were also seen (n = 11). There was a degree of correlation between antenatal ultrasound features (size of cyst [P =.03], in-utero behavior [P =.06], mediastinal shift [P = 0.05]) and the need for surgery but not with the final histologic diagnosis. Surgical excision was required in 45% of lesions showing late-gestation "resolution." CONCLUSIONS: Antenatally diagnosed "cystic lung disease" has an excellent prognosis in the absence of signs of severe fetal distress. The need for surgery should be based on appropriate postnatal investigations (eg, CT scans), rather than on antenatal behavior.

Neonatal diaphragmatic hemangioma.

The first neonatal case of a hemangioma of the diaphragm in a neonate is reported. After 25 months the patient is well with no signs of recurrence. Diaphragmatic tumors should be considered in the differential diagnosis of neonatal thoracic masses.

Striated muscle cells in non-neoplastic lung tissue: a clinicopathologic study.

This study was performed to study the prevalence, origin, and clinical implication of striated muscle cells in congenital non-neoplastic lung abnormalities. Five cases of striated muscle cell proliferation within congenital non-neoplastic pulmonary abnormalities were identified from a series of 31 (16%) resected specimens obtained at King's College Hospital, London, during the period 1992 to 1998. Lung tissue was also obtained from 48 normal human fetuses and serial sections stained for the presence of striated muscle. A histologic and immunohistochemical study of the clinical cases and the fetal material was performed by using phosphotungstic acid hematoxylin staining and immunostaining for myoglobin and desmin. Striated muscle cells were identified either as a diffuse or a focal proliferation within the lung interstitia of five infants. The congenital lung anomalies were intra-abdominal pulmonary sequestration associated with congenital cystic adenomatoid malformation (CCAM), intrathoracic sequestration again with features of CCAM, an intrathoracic sequestration associated with a congenital diaphragmatic hernia, and 2 Stocker type II intrathoracic CCAMs. Striated muscle cells were not identified in any section of lung tissue derived from the fetal series. Striated muscle cells proliferation in non-neoplastic lung tissue is more common than usually reported. Although the exact origin of such cells is speculative, because it is always detected within pulmonary anomalies, a wide morphogenetic error is likely. The clinical implication of its presence has to be further defined. HUM PATHOL 31:1477-1481.

Characterization of a putative calcitonin receptor in IMR 32 human neuroblastoma cells.

In this study we characterized calcitonin (CT) receptors in human neuroblastoma IMR 32 cells. Saturation binding assays indicated that [125I]-human CT bound with high affinity to IMR 32 cell membranes (K(d) = 253.6 pM; Bmax = 3.84 fmol/ mg protein). In competition binding studies, human adrenomedullin displayed high affinity for these sites (IC50 = 30 nM) whereas human alpha calcitonin-gene related peptide (alphaCGRP; IC50 = 145 nM) and human amylin (IC50 = 415 nM) showed lower affinity. These peptides increased cAMP levels in viable cells; the relative potencies were: human CT > human adrenomedullin > human cCGRP > or = human amylin. The expression of mRNA coding for the published sequences of the human calcitonin receptor and of the human calcitonin receptor-like receptorwas evaluated by reverse transcriptase-polymerase chain reaction. Electrophoretic analysis did not confirm the occurrence of mRNA coding for the above mentioned receptors in these cells. This study suggests the presence of a novel, putative CT receptor in IMR 32 cells.

Tracheal ring-graft reinforcement in lieu of tracheostomy for tracheomalacia.

Three children with tracheomalacia had tracheal reinforcement with free three-quarter circumference ring grafts of autologous cartilage taken from the costal margin. A low cervical manubrium-splitting approach gave excellent access to the anterior mediastinum and the intrathoracic trachea in two children. The first child, a neonate with oesophageal atresia (OA) and tracheo-oesophageal fistula (TOF), had 11 grafts to support the whole of the trachea from the cricoid to the carina and never required a tracheostomy. For the first 5 years she had frequent pneumonic episodes and on one occasion bilateral pneumothoraces. These episodes and radiographic lung hyperinflation, attributed to distal bronchomalacia, have reduced spontaneously in frequency and severity. At 9 years of age she has a well-supported trachea with palpable cartilage rings in the cervical segment. The trachea has grown to approximately 75% of expected normal size for her age. Another child with tracheomalacia related to innominate-artery compression and who presented with 'dying episodes' was completely relieved and resumed a normal life without a tracheostomy following insertion of four grafts to the intrathoracic trachea. He remains well and symptom-free 8 months postoperatively. A third child had cartilage-graft reinforcement of the lower cervical trachea, including the tracheostomy site, to achieve tracheostomy closure at 16 months of age. Five years later he continues to have a well-supported trachea showing acceptable growth. However, he has ongoing evidence of tracheo-bronchomalacia presenting as expiratory wheezing, lung hyperinflation, and pneumonic episodes that are diminishing spontaneously with growth. Our experience, limited to three children, recommends primary tracheal reinforcement with autologous free costal-cartilage grafts for tracheomalacia in the neonate and young infant. This procedure and the anterior mediastinal approach are well-tolerated, providing instant tracheal support, removing the need for a tracheostomy, and allowing the child's rapid return to the family. Long-term follow-up, presently 9 and 5 years in two children originally presenting with OA and TOF, indicates adequate tracheal growth and an aesthetically acceptable appearance. It is relevant to prognosis that relief of the life-threatening tracheal component exposed the full extent of the bronchial cartilaginous weakness, which has significantly detracted from the quality of life for these two children with OA and TOF-related tracheomalacia.

Ultrasound features of ectopic cervical thymus in a child.

A case of ectopic cervical thymus in a child is reported. Clinical and diagnostic aspects of this condition are discussed.

The importance of detailed diagnostic assessment in a case of partial situs inversus.

Partial situs inversus is not necessarily symptomatic; however, recent experience with a child affected by this condition and polysplenia led us to reconsider the approach to such cases. The collection of as much pre operative information as possible is desirable in order to delineate a correct surgical approach. In particular, the presence of gastrointestinal anomalies, e.g., duodenal dilatation, should be assessed individually, since they are virtually always pathological and not necessarily related to the situs inversus. At laparotomy all of the intra-abdominal contents should be carefully assessed.

Concepts and considerations for repair of a severe cloacal anomaly.

A 1.8 kg chromosomally normal child was suspected antenatally to have a cloacal anomaly and oligohydramnios. Both parents had a chromosome 9 inversion (inv [9] [p11 q13]). Postnatal study showed a high confluence of the urinary, genital and intestinal tracts. Because of prematurity, a right colostomy was performed on a short colon, but the genitourinary tract was not drained. Poor weight gain, urinary tract infection and septicaemia led to a one-stage reconstruction at 5 months of age and a weight of 3.2 kg. Follow-up although short at 15 months, is encouragingly suggestive of urinary and faecal continence. The vagina is patent. This paper considers concepts in cloacal management and submits for evaluation an alternative surgical plan to the presently almost exclusively accepted posterior sagittal approach of Peña and De Vries.

Intra-abdominal pulmonary sequestration associated with congenital cystic adenomatoid malformation of the lung: just an unusual combination of rare pathologies?

A case of intra-abdominal pulmonary sequestration associated with histological features of congenital cystic adenomatoid malformation (CCAM) of the lung is reported. The lesion consisted of a Stocker type II CCAM in which numerous striated muscle cells were present. A review of the literature of this rare combination of congenital pulmonary anomalies is presented.

Prenatal diagnosis of cloacal anomaly.

The authors present a case of prenatal diagnosis of cloacal anomaly, characterized by the presence of oligohydramnios and cystic pelvic mass with changing features during observation. Postnatal study confirmed the presence of a recto-cloacal fistula, with a high confluence of the urinary, genital and intestinal systems. Both parents had a chromosome 9 inversion (p11q13), but the child was chromosomally normal.

Gastric carcinoma with ovarian metastases in an adolescent.

Gastric carcinoma represents only 0.05% of malignant paediatric gastrointestinal tumours. This condition is associated with a poor prognosis because its rarity and non-specificity of the symptoms usually delay its diagnosis. The authors present a 16-year-old girl with a poorly differentiated gastric carcinoma (signet-ring-cell type) with bilateral ovarian metastases who died of peritoneal carcinomatosis despite extensive surgery and chemotherapy. The epidemiological, clinical, and pathological features of gastric carcinoma in childhood are discussed.

A hydrogel based on a polyaspartamide: characterization and evaluation of in-vivo biocompatibility and drug release in the rat.

This paper deals with the characterization of a new microparticulate hydrogel obtained by gamma irradiation of alpha, beta-poly[N-(2-hydroxyethyl)-DL-aspartamide] (PHEA). When enzymatic digestion of PHEA hydrogel was evaluated using various concentrations of pepsin and alpha-chymotrypsin no degradation occurred within 24 h. In-vivo studies showed that this new material is biocompatible after oral administration to rats. PHEA hydrogel was also studied as a system for delivery of diflunisal, an anti-inflammatory drug. In-vitro release studies in simulated gastrointestinal juice (pH 1 or 6.8) showed that most of the drug was released at pH 6.8. In-vivo studies indicated that diflunisal-loaded PHEA microparticles significantly improved the gastric tolerance and oral bioavailability of the drug in comparison with free diflunisal. These results suggest the potential application of PHEA hydrogel as a new delivery system for the oral administration of anti-inflammatory drugs.

The anterior sagittal transanorectal approach: a modified approach to 1-stage clitoral vaginoplasty in severely masculinized female pseudohermaphrodites--preliminary results.

PURPOSE: We present a modified 1-stage clitoral vaginoplasty technique for severely masculinized female pseudohermaphroditism involving an anterior sagittal transanorectal approach with the patient prone after clitoroplasty according to the Passerini-Glazel procedure. MATERIAL AND METHODS: An anterior sagittal transanorectal approach with protective colostomy was performed in 2 patients with severely masculinized female pseudohermaphroditism and a normal rectum. The anorectal sphincteric mechanism was divided only in the anterior midline, and the perineal body and rectum were opened in the anterior rectal wall, providing excellent exposure of the urogenital sinus. The vagina was easily and fully separated from the urogenital sinus, the site of vaginal attachment to the urethra was sutured, and anastomosis was created between the vaginal neo-introitus and vagina. The rectum, perineal body and anterior sphincteric mechanism were reconstructed. RESULTS: Cosmetic and anatomical results are satisfactory. The vaginal neo-introitus is located just below the urethral meatus, the clitoris appears almost normal and in the vulvar region a mucous lining is present in the front wall of the perineum between the clitoris and vagina. Convalescence was uneventful. The patients had normal bowel control after colostomy closure and no urinary incontinence. CONCLUSIONS: Our modified technique favors easy and safe posterior anastomosis between the vaginal neo-introitus and vagina under direct vision. Furthermore, suturing the vaginal stump is easier than in the original technique, since the approach to the vagina is posterior, not transvesical.

[Morpho-functional evaluation of subjects who had undergone surgery for ano-rectal malformations using the Peña technique]. / Valutazione morfo-funzionale dei soggetti operati per malformazione ano-rettale secondo la tecnica di Peña.

The approach to patients with Ano-Rectal Malformations (ARM) has undergone a substantial change in these last years due to the evolution of the studies of the anatomy and physiology carried out by Peña and de Vries. The authors report their experience on 15 patients and analyse the clinical and instrumental results according to the quality of life of the patients. There are different clinical criteria for the postoperative evaluation of these patients. The authors considered the Kelly, Kiesewetter, Peña and Holdschneider methods and compared the different values obtained. Moreover, they analysed the results of anorectal manometry performed in 10 patients and their correlations with clinical scores. The authors assert that the TC or NMR tests are unnecessary for these patients, since these methods demonstrate a correct position of the rectum within the muscular structure, but do not allow a correct evaluation of the quality of life of these patients. The clinical results obtained by the authors are satisfying; however, the number of patients is limited and the follow-up is relatively short.

Megacalycosis on duplex system upper moiety.

The authors report a rare case of megacalycosis located on a duplex system upper moiety, and analyse the problems related to its pathology, etiopathogenesis, clinical manifestations and diagnosis.

Hepatobiliary cystadenoma with hyaline stroma : A pediatric case associated with multiple hemangiomas.

The authors describe a case of hepatobiliary cystadenoma and its pathogenetic, histopathologic, and clinical aspects and point out its association with multiple hemangiomas.