Pilot study shows right ventricular diastolic function impairment in young children with obstructive respiratory disease.

AIM: This study determined cardiovascular impairment in young children with obstructive respiratory disease who were assessed using the opening interrupter technique (RINT). METHODS: This pilot study enrolled 41 children who had been referred to pulmonology and allergology specialists at the University of Catania, Italy, from March to July 2017: 23 (mean age 4.13 ± 0.62 years) had chronic coughs and wheezing and 18 controls (mean age 4.27 ± 0.66 years) had obstructive chest disease, but were otherwise healthy. Airway resistance was evaluated using RINT and cardiac function by studying the ejection fraction, pulmonary artery systolic pressure (PASP), tricuspid annular plane systolic excursion and tricuspid flow propagation velocity (TFPV). RESULTS: The RINT and PASP values were significantly higher in the patient group when compared to the controls, but the TFPV values were lower. A direct and significant Spearman's correlation coefficient (r) between RINT and PASP values was observed (r = 0.81). We found a significant inverse correlation between RINT and TFPV (r = -0.83), as well as TFPV and PASP (r = -0.78). CONCLUSION: This study showed that children with obstructive respiratory diseases had a major risk of cardiovascular impairment. Impaired diastolic function of the right ventricle occurred very early when airway resistance was abnormally increased.

Subclinic cardiac involvement in paediatric patients with celiac disease: a novel sign for a case finding approach.

The aim of the present work was to assess the prevalence of early cardiac involvement in children with celiac disease (CD), and the impact of a gluten free diet (GFD) on this issue. Sixty CD children was compared with a control group of 45 healthy children by an echocardiographic examination. CD patients were re-evaluated 1-year after 1-year GFD. Main outcome measures were ejection fraction (EF), fractional shortening (FS), left ventricular end-diastolic diameter (LVDD), left ventricular end-systolic diameter (LVSD), any regurgitating valve lesions. Mild cardiac involvement was found in 13 CD children and in one control (21.7% vs. 2.2%; p=0.003), and was secondary to regurgitation of mitral valve, aortic valve, pulmonary and tricuspid valve, or to impaired ejection fraction. CD children as compared to controls had significantly lower contractility indices, and higher left ventricular dimensions. In patients adhering to the GFD all valve regurgitations resolved, and the echocardiographic parameters significantly improved. Subclinical cardiac involvement in CD children is quite frequent, and GFD may exert a beneficial effect on the overall cardiac performance.

Endothelium and inflammation.

During the past decade, our understanding of the pathophysiology of coronary heart disease (CAD) has undergone a remarkable evolution. To date atherosclerosis is considered an inflammatory disease, whose the endothelial dysfunction represents an early key event. When the arterial endothelium encounters certain bacterial products or risk factors, such as dyslipidemia, vasoconstrictor hormones involved in hypertension, the products of glycoxidation associated with hyperglycemia, or proinflammatory cytokines derived from excess adipose tissue, these cells increase the expression of adhesion molecules that promote the sticking of blood leukocytes to the inner surface of the arterial wall. Once in the arterial intima these cells communicate with endothelium and smooth muscle cells, under the influence of mediators of inflammation and immunity, such as the cytokines and complements components, prostanoids and leukotrienes. Thus, the activated endothelium promotes the development of the atherosclerotic disease process, i.e., vascular inflammation and thrombosis by producing vasoconstrictor substances, by inducing the expression of adhesive receptors for leukocytes and platelets, the production of tissue factor and endothelin, and by increasing the production of the plasminogen activator inhibitor-1. Emerging data support the concept that assessment of endothelial vasomotion may be a useful biomarker for atherosclerotic vascular disease.

Dextrocardia with and without situs viscerum inversus in two sibs.

We described two sibs born to consanguineous Sicilian parents who died of severe congenital heart malformation. Both had dextrocardia; however, only the girl had situs viscerum inversus. At necropsy she was found to have a right spleen and right pulmonary isomerism (three lobes in each lung, as commonly found in the asplenia syndrome). This observation, together with other literature reports, suggest that isolated dextrocardia, situs viscerum inversus, and the asplenia-polysplenia complex may be different end results of a unique dysmorphogenetic process involving the embryonic midline.

[Osteoid osteoma]. / Osteoma osteoide.

Reference is made to a case of osteoid osteoma of the humerus followed radiologically from the first symptoms to surgery, to complete cure and followed up 10 yr later, in an extensive account of the subject, its historical background, aetiology, sites, anatomopathological, clinical and radiological picture, differential diagnosis, prognosis and treatment. Support is given to the view that this is a benign, tumoral lesion.

[Mechanical occlusion of the small intestines by gallstones. Our experience]. / Occlusione meccanica di tenue da calcoli biliari. Nostra esperienza.

The authors report their experience of biliary ileus, namely 8 cases out of 533 intestinal occlusions of the small bowel operated from 1982-1994. The patients included 5 women and 3 men with a F/M ratio = 1.7. Mean age was 79 years. Past medical history involving the biliary tract was only recorded in 3 cases. At the time of hospitalization occlusive symptoms had been present for between 2 and 7 days: pain in 7 patients, abdomen closed to gas and feces in 6, and vomiting in 7. Direct abdominal X-ray was only performed in 3 cases. A diagnosis of intestinal occlusion was made in 6 cases and biliary ileus in 2. During surgery it became clear that the occlusion was primarily localized at the level of the terminal ileum. Cholecysto-duodenal fistula was present in 5 cases. Enterolithotomy alone was performed in 5 cases. In 4 patients postoperative progress was normal leading to recovery. Two patients died: one immediately after surgery and the other on day 12. In conclusion, the authors confirm the increasingly frequent presence of cholecysto-duodenal fistula and the increasing age of patients, with a prevalence of females. They also emphasize the importance of an early diagnosis, supported by direct abdominal radiography so that surgery can be performed as rapidly as possible. Lastly, the need to perform cholecystectomy at a subsequent date is underlined.

[A strangulated perineal hernia. A rare case of intestinal obstruction]. / Ernia perineale strozzata. Un raro caso di occlusione intestinale.

A rare case of intestinal obstruction due to strangulated perineal hernia, observed among 533 small bowel obstructions operated since January 1982 until December 1994 (0.2%) is described. Less than 100 cases are reported in literature. The etiologic, anatomical and clinical aspects of perineal hernia are examined. The reported case is of the primitive, congenital type caused by defect of the rectovaginal fascia fusion, in correspondence of the Douglas. Preoperative diagnosis is very difficult. Strangulation of this type of hernia is rare, the hernial sac surrounding tissue being elastic. In case of strangulation, symptoms of intestinal obstruction appear. In the reported case the preoperative diagnosis was "acute abdomen", because there was defence in hypogastrium and in the right iliac fossa. A straight abdominal radiography has not been performed. In the reported case the patient, a 22-year-old woman, was promptly operated and the incarcerated intestinal loop released. A regular postoperative period followed. The importance of a complete clinical examination, of a straight abdominal radiography and of a promptly performed operation is underlined.

[Cancer of the male breast]. / Il cancro della mammella maschile.

BACKGROUND: Male breast cancer is a rare type of neoplasm, being 1% of all breast tumors. An increasing relevance is given to genetic factors. Familiarity is present in 10% of cases reported in literature. Gynecomastia is frequently associated. Personal experience about this pathology is compared with the most recent data of the literature. METHODS: Nine cases of male breast cancer observed among 519 breast tumors operated between 1982 and 1997 are reported. Etiologic and prognostic aspects, surgical and complementary therapy of breast cancer in man are examined and the high rate of II-III stage patients, mostly ER+ and PR+ is underlined. Diagnosis is reached by ultrasonography and mammography, after an accurate clinical examination and confirmed by cytology after needle biopsy. The choice operation is total mastectomy with axillary lymphadenectomy according to Patey. RESULTS: According to our experience, 5 patients died for non neoplastic pathology, 1 patient lost at follow-up, 3 patients still alive after 66, 60 and 12 months respectively. CONCLUSIONS: Male breast cancer is similar to the female one, but characterized by a higher hormone receptors positivity. Our survival data have no statistic significance. It is still discussed if prognostic difference between men and women is present or not.

[Intestinal obstruction caused by paracecal hernia. 3 case reports and review of the literature]. / Occlusione intestinale da ernia paracecale. Descrizione di tre casi e revisione della letteratura.

The authors report three rare cases of intestinal obstruction due to paracecal hernia observed in 533 small bowel obstructions operated between January 1982 and December 1994 (0.6%). In our experience, all the cases occurred in old female patients. Less than 150 cases are reported in the literature. The authors examine paracecal hernia embryologic aspects to explain its pathogenesis: the rotation of primary intestinal loop determines final intestinal rapports. Preoperative diagnosis is very difficult. Transitory symptoms may appear months or years before intestinal obstruction; these occurrences suggest that internal hernias, like external ones, may spontaneously reduce. Straight abdominal radiographies, performed in all cases here described, demonstrate small bowel levels. There is disproportion between important subjective symptoms and objective finding of a large round bump localized in the right iliac fossa. Authors underline the opportunity of a promptly performed operation: in all our cases we released the incarcerated intestinal loops and sutured hernial foramen. One exitus occurred, on the 4th postoperative day, probably due to pulmonary embolism.

[Intestinal obstruction due to Meckel's diverticulum. Description of three cases]. / Occlusione intestinale da diverticolo di Meckel. Descrizione di tre casi.

Among 588 small bowel mechanical obstructions operated since January 1982 until December 1996 at the Flajani Surgery Department and Emergency Department of the San Camillo Hospital in Rome, 3 male patients were operated for intestinal obstruction due to Meckel's diverticulum. In one case, obstruction was caused by a small bowel volvulus rolling on a Meckel's diverticulum, whose gangrenous extremity was "blocked" on caecum. In the other two cases, intestinal loops were incarcerated into an internal hernial ring constituted by the same diverticulum whose inflamed extremity was fixed to corresponding mesentery. We examined embryologic and clinical aspects of the pathology here considered, particularly its complications, obstruction being the most common in adult age. Diagnosis is often misunderstood, since a complicated Meckel's diverticulum simulates many other abdominal pathologies. A straight radiography and an ultrasonography of the abdomen may be useful to reach the correct diagnosis. We performed diverticulectomy, using a linear stapler and we underline the opportunity of this method. In young age laparoscopy resection is considered the gold treatment of this pathology by some authors. We didn't observe any mortality, although one of our patients was in a severe septic condition. It is necessary to examine the last ileal 100 centimetres when a suspected acute appendicitis is not initially found by operation. The opportunity of a promptly performed operation is underlined to prevent that such a benign pathology may induce also exitus.

[Cardiac involvement in tuberous sclerosis in the first months of life: physiopathologic and clinical aspects of cardiac rhabdomyoma]. / Il coinvolgimento cardiaco nella sclerosi tuberosa nei primi mesi di vita: aspetti fisiopatologici e clinici dei rabdomiomi cardiaci.

Cardiac rhabdomyomas are frequent in association with tuberous sclerosis and they are the first symptoms of Bourneville disease in fetal and neonatal period. Clinical findings of cardiac rhabdomiomas are quite heterogeneous: asymptomatic, cardiac murmur, cardiomegaly, heart failure or arrhythmias. Echocardiography can determine site, dimensions, numbers and haemodynamic consequences of cardiac tumours and their clinical evolution at follow-up. In this study the Authors report clinical findings in 9 cases of cardiac rhabdomyomas in newborn infants: 3 has familiarity for tuberous sclerosis and two of these had prenatal echocardiographic diagnosis; in the other 6 cases diagnosis was casual (1 in fetal period). All patients with prenatal diagnosis were asymptomatic. In other cases 1 had extrasystolic arrhythmias and five had only cardiac murmurs. Echocardiographic follow-up (6 months to 5 years) showed regression of number and dimension of cardiac masses in all cases. In 7 cases cardiac rhabdomiomas were associated with tuberous sclerosis.

[Kawasaki disease in Sicily: description of the first case with giant coronary aneurysm]. / La malattia di Kawasaki in Sicilia: descrizione del primo caso con aneurisma gigante delle coronarie.

A case of Kawasaki disease with early development of giant coronary artery aneurysm is reported. The delay in the diagnosis and consequently in the use of correct therapy has conditioned the outcome of the illness. We don't know the predictive factors of cardiac complications, but steroid treatment in our patient probably had an important role in the cardiac damage. The use of echocardiography in the evaluation of coronary aneurysm has confirmed the sensitivity, specificity and predictive value of this technique in detecting cardiac lesions.

[Hypertrophic cardiomyopathy (probably secondary) in an infant with Stickler's syndrome. The physiopathological aspects]. / Cardiomiopatia ipertrofica (probabilmente secondaria) in un lattante con sindrome di Stickler. Aspetti fisiopatologici.

Stickler syndrome is a hereditary connective tissue disease transmitted by AD pattern. It is characterized by peculiar facies with bone and ocular anomalies. Heart anomalies (except mitral valve prolapse) are an uncommon features that may be associated. The authors report on a 4 months patient affected by this syndrome who had hypertrophic cardiomyopathy. Pathogenetic mechanism of this anomaly is discussed.

[Heart involvement in progressive spinal muscular atrophy. A review of the literature and case histories in childhood]. / Il coinvolgimento cardiaco nell'atrofia muscolare spinale progressiva. Revisione della letteratura e contributo casistico in età pediatrica.

There are few cardiological studies in progressive spinal muscular atrophy and mainly concern subjects affected by the juvenile form (Kugelberg-Welander disease). The presence of a cardiomyopathy has been reported in these patients but the cardiac involvement is often secondary to the chronic respiratory insufficiency typical of the disease. We performed a retrospective study in our Institute on 43 patients, age range 3 months to 3 years, 37 of which presented type I (Werdnig-Hoffmann disease) and 6 type II (intermediate form) of the disease. No clinical nor instrumental signs of cardiomyopathy were observed. However, ECG revealed signs of right ventricular overload in 37.3% of the patients, probably provoked by pulmonary hypertension due to respiration anomalies. The authors underline the importance of correct respiratory assistance to prevent onset of cardiological alterations.

[A case of diaphragmatic eventration associated with Wolff-Parkinson-White syndrome]. / Su di un caso di eventratio diaframmatica associato a sindrome di Wolff-Parkinson-White.

The Authors report a case of diaphragmatic eventration associated with Wolff-Parkinson-White's syndrome. It's difficult to explain this unusual association. It's possible that the presence of cardiac accessory pathways in this particular patient is due to the alteration of the normal anatomical relationship resulting from the diaphragmatic eventration.

[Cardiologic study of 10 patients with Duchenne muscular dystrophy(DMD): personal experience]. / Studio cardiologico in 10 pazienti affetti da Distrofia Muscolare Duchenne (DMD): esperienza personale.

Duchenne (DMD) and Becker (BMD) muscular dystrophies are an heterogeneous group of diseases characterized by a progressive muscular degeneration. The locus involved is localized on short arm of chromosome X (2.1) and the gene product has been called dystrophin. The total dystrophin deficiency leads to DMD while the reduction of dystrophin expression to BMD. The dystrophin has an elevated molecular weight (427 Kd) with different isoforms expressed in skeletal muscular system, central nervous system and myocardium tissue. The cardiovascular involvement is up to the muscular dystrophy: in the DMD patients it is secondary to the progressive course and it usually seen in wheel-chair patients. We have retrospectively evaluated through electrophysiology (EKG) and Echo (M-mode and 2 dimensional) studies 10 DMD patients to define the heart involvement.

[THe echographic diagnosis of diaphragmatic eventration in newborn infants. 2 cases]. / Diagnosi ecografica di eventratio diaframmatica nel neonato. Due casi.

The authors report two cases of neonatal partial diaphragmatic eventration. The diagnosis in both two cases was echographic more than radiographic. The authors underline the role of B-mode echography in the diagnosis and follow-up of diaphragmatic anomalies, especially eventration, and suggest that examination of diaphragm and of its motion should complete any abdominal and thoracic echography.

[Recurrent facial paralysis in a child with renovascular hypertension]. / Paralisi ricorrente del facciale in un bambino affetto da ipertensione renovascolare.

Hypertension is rarely observed in childhood. The renal diseases are the most common causes of this condition. Headache, seizures, cranial nerve palsy and hemiplegia are the most frequent neurological manifestations. The Authors report on a patient with a severe involvement of central nervous system due to renal hypertension. The main clinical features were recurrent episodes of facial nerve palsy.

[Epidemiological and clinical findings in congenital heart diseases during the neonatal period. Report on personal cases]. / Rilievi epidemiologici e clinici sulle cardiopatie congenite in epoca neonatale. Contributo casistico personale.

Cardiovascular impairment is frequent in the neonatal period and can be linked to malformative and non malformative pathologies. The Authors performed a retrospective study on the incidence of these two types of pathologies in a population of 3326 newborns who underwent cardiological examination. Malformative cardiopathy was observed in 779 (23.4%) of them, while non malformative cardiopathy was present in 316 (9.5%). Acyanogen forms (86.7%) were more common than cyanogen forms (13.2%) in malformative, while cyanogen forms (64.8%) were more frequent than acyanogen ones (35.1%) in non malformative cardiopathies. The Authors reviewed the incidence of the single cardiac defects and report some clinical and physiopathological considerations that underline the need for prompt differential diagnosis and the validity of echocardiography in achieving this aim.

[Normal levels of carboxyterminal propeptide of type I procollagen in the first three months of life]. / Livelli normali del propeptide carbossiterminale del procollagene di tipo I nei primi tre mesi di vita.

Serum levels of type I procollagen were measured on 118 samples from cord blood or from healthy infants aging from 1 to 90 days of life. Significant variations (P = 0.001) were noticed in the values of the marker in the whole period under investigation. We observed a decrease of PICP from cord blood to the end of the first day of life with a sharp rise on the 5th day lasting until the 30th day which then became stable till the end of the third month. Our results show a peculiar pattern of PICP levels during the first month of life which has to be taken into account to evaluate normal values of the marker in this period of life.