[Celiac disease and the evolution of its diagnosis. Comparison and experience at a hospital pediatric department (1975-1993). (Second part)]. / La malattia celiaca e l'evoluzione nella sua diagnosi. Confronti ed esperienze di un reparto pediatrico ospedaliero (1975-1993). (Seconda parte).

In a period of over 18 years the prominent medical bibliographic marks with regard to definition, diagnosis and examinations of coeliac disease (CD) have been compared and as far as possible reproduced. The results confirm the remarks derivating from wider statistics. From the beginning of 1975 to the first six months of 1993 in Merate Hospital Pediatric Division, 323 patients were submitted to a first jejunal peroral biopsy in 133 cases (41.2%) CD was diagnosed. Since 34 children (25.6%) concluded the ESPGAN diagnostic iter with 3 consecutive biopsies, the reasons why the other patients didn't finish or respect the programs are here examined. Since 1987 a specific anti-gliadin (IgA and IgG) antibodies titrimetry has been available either in the investigation of suspect symptomatology or like control mark during the assessment or after a sure CD diagnosis. Since october 1992 antiendomysium antibodies (EMA or AEA IgA) have been determined only in selected patients. From the examination of 24 subjects now checked with AGA IgA/IgG and EMA and with a first positive biopsy, it is possible to point out that only one jejunal biopsy (or at the most a second one as a control during the gluten challenge) with the guarantee of haematologic patterns doesn't raise doubts about a CD diagnosis. Analogous considerations mainly refer to the atypical CD "late onset" when a constant lack of AGA and EMA during gluten free diet (GFD) or their changes in a non compliance or in gluten challenge, can exclude a following hystological confirmation. By this experience it follows that a specific antigliadin and antiendomysium antibodies investigation is indispensable to the shortening of diagnostic times, to the reduction of an often unwelcome invasive diagnostic method and to the discovery of the "CD iceberg".

[Celiac disease and its diagnostic evolution. Comparisons and experiences in a hospital pediatric department (1975-1992). I]. / La malattia celiaca e l'evoluzione nella sua diagnosi. Confronti ed esperienze di un reparto pediatrico ospedaliero (1975-1992). (Prima parte).

The coeliac disease (CD) or gluten-sensitive enteropathy (GSE) is a permanent intolerance to wheat gliadin and to correlated proteins inducing malabsorption and typical damages of the jejunal mucosa (total or subtotal villous atrophy = SVA) in genetically-predisposed individuals ("DQW2"). A large amount of research has been devoted to CD pathogenesis: the most recent studies, thanks to sophisticated and experimental methods, support the pathogenetic immunological theory and the one of direct cytotoxicity. The correct diagnostic procedure for CD, established in 1970 by the European Society for Pediatric Gastroenterology and Nutrition (ESPGAN), suggested three small bowel mucosal biopsies. In the last years, because of the difficulties of such a practice, the necessity of non-invasive diagnostic approaches has developed; such approaches have been verified in absorption tests (one-hour blood xylose, intestinal permeability methods) and in immunogenetic tests (antibodies antigliadin, anti-reticulin, anti-endomysium, anti 90 KD glycoprotein, anti-human jejunum, HLA I/II antigens). The specific MHC antigens establish CD's incidence in several population and in particular situations, as in first-degree relatives and in diseases associated with CD (dermatitis herpetiformis (DH), insulin dependent diabetes mellitus (IDDM) and other auto-immune syndromes). The specific serum antibodies singly used as first level screening if estimated in combination with absorption tests, reach the highest levels of specificity and sensibility in CD diagnosis. It's anyway fundamental the comparison with at least a typical CD histological feature, caused by a challenge with a sufficient gluten to be carried in dubious cases and in non high auxological risk age (ESPGAN 1989). Adolescence is a period of frequent non compliance with a gluten-free diet and of particular psychological and physical problems: the apparent "gluten insensitivity", typical of teen-agers and adults, recalls the definitions of silent CD and latent CD (iceberg like). In the first case the jejunal mucosa is abnormal and the symptomatology isn't evident. In latent CD, genetically restricted, the mucosa is normal but there are minimal markers of inappropriate immunity to gliadin (at intestinal humoral immunity level) and a possible worsening of histological lesions to the third stage under environmental stimuli. This represents a two-stage model CD. That's why CD is still under-evaluated despite recent statistics reporting an increasing incidence (late and atypical forms). Prevalence rates between 1:300 and 1:4,000 and more are quoted in literature. The necessity of a strict gluten-free diet is confirmed by the evident frequency of lymphoma and by the increased risk of malignancy in untreated CD.(ABSTRACT TRUNCATED AT 400 WORDS)

[A rare congenital malformation: genu recurvatum. Presentation of a case]. / Una rara malformazione congenita: il genu recurvatum. Presentazione di un caso.

The authors report a case of congenital genu recurvatum: a rare malformation characterized for abnormal hyperextension of knee and wide limitation of flexion. Pathogenesis, clinical pictures and therapy are described.

[Indications and results of surgical treatment in gastroesophageal reflux and hiatal hernia]. / Indicazioni e risultati del trattamento chirurgico del reflusso gastro-esofageo e dell'ernia jatale.

It is well known that closure of the cardia is incomplete in about 25-30% of all infants; the GER is a direct consequence. Roughly two-thirds of these infants do not show symptoms and only one-third become symptomatic. The symptoms are mild in about 75% of the symptomatic children; no treatment or medical treatment by pediatrician is required. In the remaining 25% the symptoms are moderate or severe and the clinical treatment is necessary. About the 85% of these children are cured with conservative treatment and only 15% of this small remaining group require surgery. In the paper the diagnostic problems and indications for surgery are considered. The Authors report the results of 66 children operated on for GER without (44 children) and with (22 children) hiatus hernia. The operative technique was gastropexy according to Boerema plus retroesophageal hiatopexy in the cases of important hiatus hernia. At the follow-up 61 children (92.5%) were completely asymptomatic and three showed mild symptoms without pathological radiological findings. Clinical and radiological recurrences occurred in two patients (4.5%) with severe brain damage. Two children were reoperated on postoperatively for an ileus due to adhesion. The mortality rate has been zero. In the author's opinion, the Boerema procedure is a simple, physiologic and fast technique, associated with very few complications and no mortality rate and should be considered the elective method in the surgical treatment of GER and hiatal hernia in pediatric patients.

[Long=term evaluation of renal damage in primary vesico-renal reflux after corrective surgery]. / Valutazione a distanza del danno renale nel reflusso vesico-renale primitivo dopo intervento chirurgico correttivo.

Traditionally 3 mechanisms are responsible for the development of renal damage when primary vesico-renal reflux is present: reflux is a manifestation of abnormal embryological development of the ureteral bud, with subsequent dysplasia; sterile reflux damages the kidney, perhaps trough a mechanical or/and an immunological mechanism; renal damage occurs as a result of the reflux of infected urine into susceptible renal papilla (intrarenal reflux). Whatever the mechanism, it is apparent that reflux and renal damage are intimately related. It does appear that for the most part damage is done at an early age. Operative repair of vesico-renal reflux has been advocated as a reliable method to stop reflux, with attendant cessation of renal damage and improvement in renal function. However some recent prospective study found that the rate of continued renal scarring is independent of medical or surgical therapy. The aim of the present paper is to study the functional and radiological long-term results after successful antireflux surgery (mean follow-up 6 years 4/12). 90 patients for a total of 140 refluxing ureters were studied for assessment of urinary infection, blood pressure and renal function. 40 patients for a total of 62 refluxing ureters were evaluated for determination of renal parameters evolution. At follow-up from 3 to 14 years (mean 6 4/12 years), less than 10% of the patients showed pathological bacteriuria generally without episodes of acute pyelonephritis. Hypertension was present in 4 (4.4%) out of 90 patients, aged from 14 to 18 years. There was a significant improvement in renal function after operation, especially in infants operated on in the first two years of life. The postoperative radiological study showed a growing of affected kidneys in about 89%. In almost 47%, the affected kidneys showed an increased growth. Only about the 5% of the kidneys showed a decreased development with a final evolution toward a small pyelonephritic kidney. The best results were obtained in patients operated on very early in the life. Our greatest challenge is to prevent the early destruction of nephrons. This means an early diagnosis of urinary tract infection and detection of vesico-renal reflux with an early treatment. The administration of prophylactic antibiotics and, when indicated, an early surgical treatment can minimize, in our opinion, the magnitude of renal damage for the most part of patients.

[Prolonged Q-T syndrome (Romano-Ward syndrome). Description of a case diagnosed in infancy]. / La sindrome del Q-T lungo (S. di Romano-Ward). Descrizione di un caso diagnosticato nella prima infanzia.

A case of prolonged Q-T interval syndrome without deafness (Romano-Ward syndrome) is reported. A 2-month-old female was seen in consultation because of a near-miss event (syncopal attack). An EKG showed a long Q-T interval. Successful therapy was achieved with propanolol.

[Infantile gluteal granuloma. Case report]. / Granuloma gluteale infantile. Contributo casistico.

A 5 months old infant having "granuloma gluteale infantum" (G.G.I.) is reported. One or more tumorous red-purple nodules on gluteal or on genitocrural area are the usual cutaneus injuries of G.G.I. The histologic aspect resembles pyogenic granulomas. The exact pathogenesis of G.G.I. is still to be defined; nevertheless the use of plastic diaper covers and topical fluorinated steroid preparations seems to have great influence.

[Long-term non-malformative urinary infections in children. (I)]. / Infezioni urinarie non malformative di lunga durata in età pediatrica (prima parte).

Non malformative long term urinary tract infections affect above all the female sex. The specific anatomic conditions explain only in part the predisposition for the female sex. Other determinants are the individual susceptibility and bacterial virulence. The authors studied 169 pediatric patients with recurrent urinary tract infections; of which 159 where females. The study of the blood group in 70 patients showed a net predominance of the groups B and AB. About one-third of the patients studied presented a scarce symptomatology or complete absence. The urodynamic study in 120 patients has revealed an abnormal pattern in more than 80% of the cases. According to the authors the abnormal urodynamic pattern is related to the long-term infection and is reversible in the cases which are curable. In about one-third of the cases with long-term infections which are resistent to the therapy, the cystoscopy has revealed a cystitis cystica. The study carried out by the authors permits precise indications on the specific tests that must be effectuated in this particular type of pathology and the indications of treatment.

[Polymorphism of the cleidocranial dysplasia syndrome. Presentation of 2 cases]. / Polimorfismo della sindrome cleido-cranica. Presentazione di due casi.

Following a brief description of the clinical and radiological features of cleidocranial dysplasia (see Table), two patients are presented who respectively exemplify the classic and the incomplete form of this syndrome. The morphologic appearance of the bone segments involved may suggest a diagnosis of cleidocranial dysplasia even through occasional radiologic examinations, specially in the pediatric age. The patients suffering from this condition, which in itself is not incapacitating, should be serially observed so that appropriate therapeutic measures can be adopted, mainly in the presence of hip dysplasia or when the thoracic cage or the spine are severely involved.