[The Cri du Chat syndrome: a study on the quality of care]. / Sindrome del Cri du Chat: indagine sulla qualità dell' assistenza.

AIM: The Cri du Chat syndrome (SCdC / [OMIM #123450]) is a rare disease characterized by the deletion of the short arm of chromosome 5. The typical clinical features are the cat-like cry, microcephaly, a distinct facial phenotype and a severe psychomotor and mental retardation. The aim of this study was to provide an analysis on the data concerning the life quality and families assistance to whom have a child affected by Cri du Chat syndrome such as: the life's change of parents after the child's birth, the frequency of treatments, the collaboration between family and center of reference. METHODS: We have also analyzed the improvement obtained, the type of school attended, the aide and the time spent at home in postprimary education. Through a questionnaire sent to 100 families, we have been picked up information on 76 patients. RESULTS: These families have to adapt to the reality of a child with a rare genetic disorder for which there are no pharmacological or surgical therapies. CONCLUSION: Therefore, it seems important to give information and tips for dealing with the disease and the early start of rehabilitation and educational therapy.

[Evaluation of the varus-valgus knee in a group of calabrian children]. / Valutazione del varismo-valgismo del ginocchio in un gruppo di bambini calabresi.

INTRODUCTION: In the early years of life, the angular deviation of knee causes anxiety in parents and alert to paediatricians. The problem is often an expression of physiological development of the lower limbs and correction occurs spontaneously. A small number of children has a true pathology, which can lead to functional problems, modification of the knee's axis and muscular-skeletal disorders. We analyzed the prevalence of pathological forms of varus-valgus knee and their association with lower limb dysmetria and scoliotic attitude. MATERIALS AND METHODS: We evaluated radiographies of the lower limbs of 60 calabrian children; we analyzed the mechanical axis of knee and articular spacing angles. We evaluated the X-ray of the spine with study of Cobb's angle and the gradient of the femoral head. RESULTS: 61.6% of children had a deflection angle of the knee: 6.7% physiological varus and 28.3% physiological valgus, 8.3% pathological varus and 18.3% pathological valgus. Mechanical axis deviation was: +15.6 degrees with articular spacing angle of about +2.4 degrees in pathological varus and +1.95 degrees with articular spacing angle of about -2.09 degrees in pathological valgus. 15% of children had pathological deviation and femoral head dysmetria (7.7 mm). 10% of children had association between pathological valgus/varus knee, dysmetria and scoliotic attitude ( 8.3% sacral-lumbar scoliotic attitude with Cobb's angle <20 degrees ). CONCLUSIONS: Without alarm we must pay attention to varus/valgus knee, because probably it will be a physiological deviation. In the pathological condition, it is important to consider the association with the limbs dysmetria that can lead to irreversible scoliotic postural deviation, if ignored for a long time. Unlikely early diagnosis and a subsequent correction of these defects could assurance a good development of skeletal structure.

Growth and puberty in thalassemia major.

Present transfusional regimen protocols increase the life expectancy of patients with beta-thalassemia major, but cause a progressive iron overload that can be prevented or limited only by appropriate iron chelation. Siderosis is responsible for the clinical complications of the disease. Short stature and hypogonadism are extremely frequent in patients with thalassemia. Many factors are responsible for short stature in patients with thalassemia, the most important of which are dysfunction of the GH-IGF-I axis and desferoxamine (DFX)-induced bone dysplasia. Hypogonadism is the most frequent endocrine complication, mostly due to gonadotrophins deficiency secondary to iron overload. Sex steroid treatment for induction of puberty and/or maintenance of sexual characteristics is necessary. Both short stature and hypogonadism are present in a significant percentage of bone marrow transplanted patients with thalassemia. Factors responsible for short stature are previous iron overload, liver impairment, DFX treatment, and toxicity of chemotherapeutic agents. In some patients absence of pubertal development is due to gonadotropin insufficiency, probably secondary to previous iron overload; other patients exhibit hypergonadotrophic hypogonadism due to the toxic effect of chemotherapeutic agents on the gonads. Both groups need hormonal replacement therapy. These data support the need for vigilant follow-up of patients with thalassemia before and after transplantation, in order to treat endocrine dysfunctions at the appropriate age.

[Thoracic imaging in adolescence: news and perspectives]. / L'imaging toracico in età pediatrica adolescenziale: attualità e prospettive.

Technological advances modified actual trends in pediatric imaging. Up 25 years ago thoracic X-ray was the only resource in pediatric radiology. The introduction of CT, digital radiography, sonography and magnetic resonance and then of psitron emission tomography, led to a new dimension in thoracic pediatric imaging. In the future, new technological perspectives will make the functional study of the lung ventilation possible with techniques such as the 3-He hyperpolarized.

[Chest pain in adolescents]. / Il dolore toracico nell'adolescente.

In children and in adolescents, chest pain is relatively common and self-limiting. The close association between chest pain, cardiopathies and sudden death is the cause of intense anxiety in boys and their parents and even doctors. The most frequent causes of chest pain, the diagnosis and the eventual treatment are examined. Finally, the causes of chest pain due to drug abuse (in particular cocaine) and to CO poisoning are also examined. Good knowledge of the problem, an accurate anamnesis and a careful objective exam are useful to choose the most suitable treatment.

Vesico-ureteral reflux in pediatric kidney transplants: clinical relevance to graft and patient outcome.

From June 1985 to December 1998, 173 pediatric renal transplants were carried out in 170 patients at our center. From this pool, 73 patients (34 males and 39 females) with a follow-up of 48 months were examined. In all patients, ureteroneocystostomy was performed according to the Lich-Grégoire procedure. All patients were treated with cyclosporin A (CsA)-based immunosuppression, including prednisone and sometimes azathioprine (AZA). Six months after transplantation, voiding cystography (VCU) was performed in all patients and reflux was classified from Grade I to Grade IV. The patients were divided into two groups: those with reflux (Group A: 25 patients) and those without (Group B: 48 patients). Grade I reflux was found in four patients, Grade II in seven patients, Grade III in seven patients, and Grade IV in seven patients. All the patients with severe reflux (Grade IV) underwent a corrective surgical procedure. Both groups were examined for immunologic and non-immunologic risk factors and no significant differences were found. Analysis of patient and graft survival rates revealed no statistical differences (NS) between Groups A and B. Mean serum creatinine (mg/dL) was 1.06 +/- 0.28 and 1.12 +/- 0.41 at 4 yr in Groups A and B, respectively (NS). Mean calculated creatinine clearance (cCrC; ml/min) was 76.74 +/- 15.92 and 77.96 +/- 15.66 in Groups A and B, respectively (NS). The analysis was further extended by considering the grade of reflux (I to IV). Again, no significant differences in the above parameters emerged between the reflux sub-groups; only in the Grade IV sub-group was a slight decrease in cCrC detected, although this difference was not statistically significant when compared with the other sub-groups. In conclusion, vesico-ureteral reflux (VUR) does not seem to negatively affect graft function. However, as all severe reflux patients (Grade IV) were surgically corrected, no conclusions can be drawn with regard to the influence of Grade IV reflux on long-term graft function.

[Abdominal tuberculous lymphadenitis simulating pancreatis cancer]. / Linfoadenite tubercolare addominale simulante un carcinoma pancreatico.

The Authors report the case of a patient symptomatic for fever, weight loss and abdominal pain submitted to abdominal sonography and CT which identified a mass of the pancreatic head. The patient underwent laparotomy plus biopsy; the istologic and bacteriological diagnosis demonstrated a tuberculous lymphoadenitis in spite of a normal cutaneous tuberculin test. Abdominal localization of TBC infection therefore is increasing in epidemiological studies, and thus it must be included in the differential diagnosis of subdiaphragmatic disease.

[Vascular bench surgery in renal transplant]. / Chirurgia di banco vascolare nel trapianto di rene.

The development in the number of patients for renal transplants has not been matched to the kidneys supplied. On this subject the authors think that this chronic deficit could be improved by making use of all the organs by using a series of technical means during bench surgery; which enable optimisation of use of kidneys with vascular abnormalities or those injured upon removal. The authors report their experience of 450 renal transplants operated between January 1981 and December 1985 and of the evolution vascular bench surgical techniques which enable use of a considerable number of kidneys which would otherwise have been discarded. Moreover, it helped the implant, shortened surgery time without prolonging hot ischemia, and did not increase the number of complications.

[Renal transplantation in patients over 60 years of age. An increasing clinical reality]. / Il trapianto renale nei pazienti ultrasessantenni. Una realtà clinica in aumento.

The elevation of the uremic population age, the longer survival of dialysis, the increasing number of elderly donors, together with the safer surgical, anesthesiological and immunological procedures have led all over the word to an improvement of over 60s patients transplantation program, with very good results. The authors present their own experience of renal transplantation in elderly recipients and a review of what is reported in the literature on the question.

[Retrorectal hamartomatous cysts or "tail gut syndrome": a case report and review of the literature]. / Cisti amartomatosa retrorettale o "tail gut syndrome": caso clinico e revisione della letteratura.

Retrorectal cyst hamartomas or so called tail gut syndrome are dystopic lesions, rarely reported in Literature, characterized by the presence of cysts lined by mucous-producing ciliated epithelium. The Authors report a case, recently observed and surgically treated, in a 55 year old male, hospitalized because of an abscess and fistula in the right buttock diagnosed to be a cyst hamartoma. The Literature is reviewed as well.

[Technique of vascular reconstructive bench surgery in pancreas transplantation]. / Tecnica di chirurgia ricostruttiva "su banco" degli assi vascolari nel trapianto di pancreas.

Vascular reconstructive bench surgery has become a basic step in pancreas transplantation, in order to prevent vascular thrombosis. The Authors describe their experience, also reporting literature results.

HLA matching in pediatric recipients of a first kidney graft. A single center analysis.

We retrospectively examined the effect of HLA-A, -B, and -DR serological matching on graft survival in 88 pediatric end-stage renal disease patients who underwent primary renal transplantation. Actuarial graft survivals (GS) at 2 and 6 years in patients with zero DR mismatches (MM) (12 patients) or 1 DR MM (58 patients) were significantly higher than those in patients with 2 DR MM (18 patients) (2-year GS: 100% vs. 90% vs. 59%; 6-year GS: 100% vs. 79% vs. 59%, respectively). Because of the low number of patients in the zero DR MM group, only the GS difference between 1 DR MM and 2 DR MM had a significant result at 1 year (92% vs. 68%). No clear HLA matching effect was obtained in the HLA-A and -B loci. When DR were combined with A or B antigens (0-2 MM vs. 3-4 MM), significantly higher GS at 1, 2, and 6 years persisted for patients with 0-2 MM only in the A, DR group (96%, 94%, and 85% vs. 68%, 63%, and 56%, respectively). It is suggested that avoidance of mismatching for DR alleles at the serological level, in the selection of pediatric recipients of first cadaveric renal transplantation, leads to an improvement of both short- and longterm graft outcome.

[Renovascular hypertension-bilateral kidney: autotransplantation and reconstruction of the aorta with autologous saphena]. / Ipertensione nefrovascolare: autotrapianto renale bilaterale con ricostruzione dell'arteria mediante vena safena autologa.

The authors describe a patient with stenosis of the renal artery undergoing bilateral kidney autotransplantation and reconstruction of the aorta with autologous saphena. This study also provides a general evaluation of renovascular hypertension incidence, etiopathogenesis, symptomatology, diagnostic criteria, therapy. The presence of a diastolic pressure > 110 mmHg, with normal creatinin levels and urinalysis results, is very significant and leads to invasive investigations. Site and size of the anatomic anomaly are evaluated by arteriography. Surgery is the treatment of choice.

[Interstitial radiotherapy with 125I in non-resectable pancreatic carcinoma]. / Radioterapia interstiziale con 125I nel carcinoma pancreatico non resecabile.

The authors analyze results of 220 patients suffering from pancreatic cancer treated in their department from 1982 to 1992. Among these patients 24 of them underwent surgical operation for positioning of radioactive pills. The discussion is on indication and results of this technique, considering also what's reported in scientific literature on the argument.