Long-term assessment of clinical outcomes and disease progression in patients with corrected Tetralogy of Fallot.

OBJECTIVE: Understanding changes of right ventricular (RV) geometry and function in repaired Tetralogy of Fallot (rToF) patients can improve decision-making for pulmonary valve replacement. Therefore, we aimed to assess the magnitude and clinical correlations of RV changes in rToF patients. PATIENTS AND METHODS: Clinical and MRI data of rToF patients who underwent repeated cardiac magnetic resonance imaging (MRI) at two centers between December 2003 and September 2020 were analyzed together with anatomical factors, including RV outflow tract obstruction, pulmonary artery branch stenosis, and tricuspid regurgitation. Adverse cardiac events and/or NYHA class worsening were documented and correlated with MRI changes. QRS length was reported at each MRI. RESULTS: Two-hundred-and-nineteen rToF patients (53% males, aged 20.2 ± 10.1 years) were enrolled. An increase of ventricular dimensions, except LVEDVi, and worsening of right and left ejection fractions were found over an average period of 5 years of follow-up. These changes were statistically significant but within 10% of the initial value. No significant changes were reported on a year-to-year basis, except in a small group of patients (6%) in whom no predictive factors were identified. Despite similar RV dimensions at the first examination, younger patients had a higher RV ejection fraction and a different annual rate of change of ventricular dimensions compared to older ones. Patients with arrhythmias (20%) were more frequently older and had larger RV dimensions but showed no significant correlations with MRI changes/years. CONCLUSIONS:  Changes in RV dimensions and function occur rarely and very slowly in rToF patients. A small percentage of patients experience a significant worsening in a short time interval without any recognized risk factors. Arrhythmias appear to occur in a small percentage of cases in the late follow-up.

Neonatal teeth: Importance of histological findings in management update.

BACKGROUND: Presence of teeth in a newborn represents a rare finding and a disturbance of biological chronology of teeth. The aim of this paper is to report two cases with neonatal teeth histologically examined. CASE REPORT: In this paper two cases of patients with neonatal teeth are reported and histological examinations of three extracted teeth are described. We report an exceptional finding in one of the neonatal teeth microscopically examined: a massive inflammatory infiltration in the pulp tissue similar to that in pulpitis. RESULTS: The management of natal and neonatal teeth usually includes the extraction in case of ulceration on the tongue or severe tooth mobility to prevent accidental inhalation or feeding disturbances. The presence of an inflammatory infiltration of pulp tissue in one of teeth histologically examined suggests to review the indications for extraction considered to date. CONCLUSION: The management of natal and neonatal teeth should consider the presence of an inflammatory infiltration of pulp tissue. An anamnestic interview is advisable in ordert to deeply investigate about possible behaviours of the child due to pain or discomfort.

Correlation between cephalometric variables and obstructive sleep apnoea severity in children.

AIM: Alterations in craniofacial growth have been associated with obstructive sleep apnoea in children. The main objectives of this study were to analyse the correlation between cephalometric variables and Obstructive Apnea/Hypopnea Index (OAHI) in order to investigate if craniofacial features may influence the severity of obstructive sleep apnoea and to study the correlation between upper nasopharyngeal width and maxillomandibular skeletal discrepancy in sagittal and vertical plane. MATERIALS AND METHODS: Study Design: Correlations between cephalometric variables and obstructive sleep apnoea/hypopnea index and between upper airways space and maxillomandibular skeletal discrepancy were investigated. Forty-seven children with obstructive sleep apnoea diagnosed by overnight sleep study (polysomnography) underwent a lateral radiograph, orthodontic and ear-nose-throat examinations. Cephalometric analysis according to Kirjavainen has been performed to define skeletal and upper airways variables. STATISTICS: Spearman's correlation analysis was performed between OAHI and all cephalometric variables. Pearson's correlation analysis was performed between cephalometric variables of upper airway space and cephalometric variables related to maxillomandibular discrepancy. Chi-square test was used to compare occlusal features with adenoidal and tonsillar hypertrophy. Kruskal-Wallis rank test was used to compare OAHI with occlusal variables and adenotonsillar hypertrophy. RESULTS: The results show a positive correlation between OAHI and maxillomandibular discrepancy measured by ANB angle (rho=0.32; p=0.023). A significant correlation was found between upper nasopharyngeal width and vertical maxillomandibular skeletal discrepancy: 1) ad1-PNS were correlated to Mandibular Plane/Sella- Nasion angle (r=-0.36; p=0.012), Palatal Plane/Mandibular Plane angle (r=-0.39; p=0.007), and Posterior-Anterior Facial Height % (r=0.29; p=0.045); 2) ad2-PNS was correlated to Palatal Plane/Mandibular Plane angle (r=-0.39; p=0.007). No statistically significant differences were found in non-parametric tests between OAHI and occlusal variables or adenoidal and tonsillar hypertrophy. CONCLUSIONS: The present study shows a significant correlation between maxillomandibular discrepancy and the severity of OSA. Moreover, the reduction of nasopharyngeal width was correlated to maxillomandibular hyperdivergent growth pattern. These results support the presence of a correlation between sleep-disordered breathing and craniofacial features even if the cause-effect relation is still unclear. Based on these evidences, we suggest the importance of orthodontic evaluation in the management of paediatric OSA.

Multidisciplinary approach to the treatment of double bilateral upper permanent incisors in a young boy.

BACKGROUND: A double tooth is a rare developmental anomaly referring to the fusion of two adjacent tooth buds or the gemination of a single bud. CASE REPORT: This case report describes the multidisciplinary approach to an 11-year-old patient with two double upper permanent incisors. The clinical intraoral examination showed a mixed dentition with bilateral double maxillary central incisors, molar Class I malocclusion and palatal ectopy of two lateral upper incisors. Computed tomography of the upper dental arch revealed the presence of double central incisors with two distinct roots. The clinical choice consisted of an innovative treatment including surgical, endodontic, orthodontic and restorative treatments. This management protocol produced good aesthetic, healthy and functional results that were stable also two years post-treatment.

Evaluation of Distensibility and Stiffness of Ascending Aortic Aneurysm using Magnetic Resonance Imaging.

INTRODUCTION: Magnetic resonance imaging emerging as a new tool for the diagnosis and evaluation of ascending aortic aneurysm. The aim of our study is to evaluate in vivo distensibility and pulse wave velocity of the aortic wall using functional magnetic resonance imaging technique. METHODS: We enrolled 25 patients undergoing surgery for ascending aortic aneurysm and or aortic valve replacement for a period of 8 months. Preoperatively, all the patients underwent functional MRI study of the aorta. Aortic wall distensibility and pulse wave velocity of ascending aorta was evaluated. RESULTS: Mean age of the patient was 66 years (66.68 ± 5.62 years) with 60% (15) male patients. More than fifty percentages of patients were smoker (52%), hypertensive (64%) and diabetic (56%). We have observed significant decrease of distensibilty in the patients with aortic diameter above 50 mm (p-0.0002). Furthermore, we have found a significant inverse correlation between aortic distensibility and pulse wave velocity (R= -0.650, R2= 0.42, p-0.0004). Similarly, we have found a significant inverse correlation between ascending aortic diameter and distensibility of the aorta (R= -0.785, R2= 0.61, p-0.00001). Statistically significant positive correlation was observed between aortic diameter and pulse wave velocity (R= 0.865, R2= 0.74, p-0.00001). CONCLUSIONS: MRI measurement of aortic diameters, distensibility, and flow wave velocity is an easy, reliable and reproducible technique. Distensibility and pulse wave velocity define the elasticity of the aorta. We have observed that elasticity of aortic wall is decreased in ascending aorta aneurysm patients.

Effects of simultaneous palatal expansion and mandibular advancement in a child suffering from OSA.

This clinical report describes a child suffering from obstructive sleep apnoea (OSA) and class II skeletal malocclusion with maxillary contraction and anterior open bite. He presented moderate obstructive sleep apnoea with large impact on quality of life of patient and parents. He was treated using an innovative orthodontic device (Sleep Apnea Twin Expander) to simultaneously carry out palatal expansion and mandibular advancement. After orthodontic therapy, the OSA-18 questionnaire demonstrated an improvement of the main respiratory symptoms, while cardiorespiratory sleep study revealed a reduction in obstructive sleep apnoea events. Post-treatment, clinical assessment and cephalometric analysis showed a reduction of sagittal maxillary discrepancy and an extension of upper airway space. In conclusion, this case report suggests that orthodontic treatment might be a valuable alternative treatment in children with obstructive sleep apnoea related to craniofacial anomalies.

Unexpected histopathologic result of a wide surgical excision of a bleeding lesion of the skin: a case of Merkel cell carcinoma of the leg.

BACKGROUND: Merkel cell Carcinoma is a very rare primary cutaneous tumor that often looks like an innocuous and asymptomatic nodule or plaque of the skin, but with a very fast growing. It is also called neuroendocrine carcinoma of the skin or trabecular cancer. The main treatment is based on a local excision followed by radiotherapy or chemotherapy. The most common site of presentation of this lesion is head and neck (40-60%.) and it often occur in older men with immunological system dysfunction like HIV patients, cancer, severe infections and immunosuppression for transplantation. METHODS: The authors report a case of a bleeding Merkel Cell Carcinoma of the right leg in a 83 years old man with HCV infection, chronic kidney disease and diabetes mellitus type 2 that required local excision. RESULTS: Lesion was entirely removed and then patient was sent to oncologists. After two months from surgical excision, healing process is regular and without complications. CONCLUSIONS: This type of tumor can be misdiagnosed and, if bleeding, it can represent a serious surgical emergency.

A biased random-key genetic algorithm for data clustering.

Cluster analysis aims at finding subsets (clusters) of a given set of entities, which are homogeneous and/or well separated. Starting from the 1990s, cluster analysis has been applied to several domains with numerous applications. It has emerged as one of the most exciting interdisciplinary fields, having benefited from concepts and theoretical results obtained by different scientific research communities, including genetics, biology, biochemistry, mathematics, and computer science. The last decade has brought several new algorithms, which are able to solve larger sized and real-world instances. We will give an overview of the main types of clustering and criteria for homogeneity or separation. Solution techniques are discussed, with special emphasis on the combinatorial optimization perspective, with the goal of providing conceptual insights and literature references to the broad community of clustering practitioners. A new biased random-key genetic algorithm is also described and compared with several efficient hybrid GRASP algorithms recently proposed to cluster biological data.

Oral parafunctions as risk factors for diagnostic TMD subgroups.

The frequency of diurnal clenching and/or grinding and nail-biting habits was assessed in patients affected by temporomandibular disorders (TMDs) and in healthy controls in order to investigate the possible association between these oral parafunctions and different diagnostic subgroups of TMDs. The case group included 557 patients (127 men, mean age +/- SD = 34.5 +/- 15.4 years; 430 women, mean age +/- SD = 32.9 +/- 14.1 years) affected by myofascial pain or disc displacement or arthralgia/arthritis/arthrosis. The control group included 111 healthy subjects (55 men, mean age +/- SD = 37 +/- 15.2 years; 56 women, mean age +/- SD = 38.2 +/- 13.8 years). Multinomial logistic regression analysis was used to assess the association between oral parafunctions and TMDs, after adjusting for age and gender. Daytime clenching/grinding was a significant risk factor for myofascial pain (odds ratio (OR) = 4.9, 95% confidence interval (CI): 3.0-7.8) and for disc displacement (OR = 2.5, 95% CI: 1.4-4.3), nail biting was not associated to any of the subgroups investigated. Female gender was a significant risk factor for myofascial pain (OR = 3.8; 95% CI: 2.4-6.1), whereas the risk factor for developing disc displacement decreased with ageing. No association was found between gender, age and arthralgia/arthritis/arthrosis.

[Diaphragmatic rupture with intrathoracic hepatic dislocation. Two case report]. / Rottura diaframmatrica con erniazione intratoracica del fegato. Presentazione di due casi clinici.

The authors show two cases of diaphragmatic rupture by blunt trauma with intra thoracic liver dislocation due to an accident on the street. The preoperative diagnosis has been based on the CT scan. The laparotomy, central for a patient and sub costal bilateral for the other one, gave the chance to repair the diaphragmatic defect directly and to deal with the associated lesions existing in both the casualties. No prosthetic material has been used and the reconstruction of the diaphragmatic defect has been conducted through a interrupted suture with non absorbable material. According to our experience the reparation of the diaphragmatic defect has always been conducted through a laparotomic approach and without using any prosthetic material. We repute that in these cases the laparotomic approach is the best one, which permits not only the reparation of the diaphragmatic defect but also the correct management of the related lesions which could be present. Usually we use a interrupted suture with non absorbable material for minor lesions and a continuous one, double layered if possible, for the major ones.

Amino-terminal fragment of pro-brain natriuretic hormone identifies functional impairment and right ventricular overload in operated tetralogy of Fallot patients.

To evaluate the relationship between plasma concentration of amino-terminal fragment of pro-brain natriuretic peptide (NT-proBNP), functional capacity, and right ventricular overload in survivors of tetralogy of Fallot (TOF) repair, we prospectively studied 70 operated TOF patients (44 males, 21 +/- 1 years old; mean +/- SEM) who underwent, during the same day, echocardiography, cardiac magnetic resonance imaging, neurohormonal characterization (plasma NT-proBNP, catecholamines, plasma renin activity, and aldosterone assay), and cardiopulmonary exercise testing. Forty-eight age- and sex-matched healthy volunteers served as the control group. Compared to controls, maximal workload and peak oxygen consumption (VO2/kg) were lower in operated TOF patients (p < 0.001), whereas NT-proBNP concentration was elevated (p < 0.001). No difference was found among the other neurohormones. In operated TOF patients, NT-proBNP showed a significant positive correlation with right ventricular (RV) end systolic and end diastolic volumes and RV systolic pressure, and it showed a negative correlation with peak VO2/kg and RV ejection fraction. From multivariable analysis, NT-proBNP concentration was found to be an independent predictor of peak VO2/kg, RV end systolic volume, and RV systolic pressure. These results show an association among RV overload, decrease in functional capacity, and cardiac natriuretic peptide expression in operated TOF patients. NT-proBNP plasma assay may be a useful tool for diagnostic purposes and for decision making in this setting.

On some optimization problems in molecular biology.

In the last two decades, the study of gene structure and function and molecular genetics have become some of the most prominent sub-fields of molecular biology. Computational molecular biology has emerged as one of the most exciting interdisciplinary fields, riding on the success of the ongoing Human Genome Project, which culminated in the 2001 announcement of the complete sequencing of the human genome. The field has currently benefited from concepts and theoretical results obtained by different scientific research communities, including genetics, biochemistry, and computer science. It is only in the past few years that it has been shown that a large number of molecular biology problems can be formulated as combinatorial optimization problems, including sequence alignment problems, genome rearrangement problems, string selection and comparison problems, and protein structure prediction and recognition. This paper provides a detailed description of some among the most interesting molecular biology problems that can be formulated as combinatorial optimization problems and proposes a new heuristic to find improved solutions for a particular class of them, known as the far from most string problem.

Tetralogy of fallot with left heart hypoplasia, total anomalous pulmonary venous return, and right lung hypoplasia: role of magnetic resonance imaging.

We report a rare case of tetralogy of Fallot with total anomalous pulmonary venous return, left heart hypoplasia, right lung hypoplasia, and left ocular-mandibular synchinesia (Marcus-Gunn phenomenon), correctly diagnosed by cardiovascular magnetic resonance imaging and successfully operated by modified Glenn anastomosis.

[Abdominal lymphoma with abscess and thoracic perforation: en-bloc resection]. / Linfoma addominale ascessualizzato e perforato in torace: resezione "en-bloc".

The authors compare a rare case of acute onset Gastric Lymphoma with that present in the literature. The patient, a white 67 year-old man, was admitted to hospital in severe general condition. On CT scan an opacity of the pleura and a subtotal collapse of the left lung associated with a mass infiltrating the diaphragm, the gastric fundus and pancreas were seen. After 48 hours from the admission an operation was performed. The abdominal mass infiltrating the stomach, the spleen and the left thorax was resected en-bloc by laparotomy. A Boulau drainage was inserted. The histology showed an high malignant, diffused, big cell lymphoma. The patient was discharged 23 days later after a regular postoperative course. Surgery can be necessary, sometime curative in gastric lymphomas while long term result and quality of life could be improved by chemotherapy.

[Primary anastomosis in the neoplastic colonic obstruction]. / L'anastomosi primaria nell'occlusione colica neoplastica.

The authors report their own experience on the treatment of large bowel obstruction caused by a neoplastic stenosis. During a 36-month period 110 operations for emergency large bowel obstructions were performed: 59 (53.6%) underwent primary anastomosis without colostomy (28 right colectomy, 16 left colectomy, 9 sub-total and 6 total colectomy). Total group post-operative mortality was 2.9% as a result of cardio-pulmonary complications. Morbidity was 19.8%, included a 3% of anastomotic leak underwent surgical treatment. Our results suggest that resection and primary anastomosis can be performed with acceptable morbidity and mortality in a high proportion of cases of emergency large bowel obstructions.

Transcatheter closure of atrial septal defects with the STARFlex device: early results and follow-up.

BACKGROUND: The STARFlex (SF) device is a CardioSEAL (CS) double-umbrella device that has been modified by the addition of a self-centering mechanism comprised of nitinol springs connected between the two umbrellas and a flexible core wire with a pin-pivoting connection. This paper compares the results of atrial septal defect (ASD) closure with CardioSEAL and STARFlex devices. PATIENTS AND METHODS: Between December 1996 and March 2000, 117 patients underwent ASD closure with CardioSEAL (n = 79) and STARFlex (n = 38). The mean age (17 years), weight (49 kg), and ASD size (15 mm) were similar in the two groups. The procedures were performed under general anesthesia with both fluoroscopic and transesophageal echocardiographic monitoring. IMMEDIATE RESULTS: The devices were successfully implanted in all patients. Ten patients had multiple ASDs. A single device was used in four patients (CardioSEAL in three, STARFlex in one), while a simultaneous placement of two CardioSEAL (one patient) or two STARFlex (five patients) were performed in six patients. The results are summarized as follows: [table: see text] Follow-Up Results: On follow-up clinical exam, electrocardiograms, chest X-rays, and echocardiograms were obtained at 1, 6, and 12 months. [table: see text] During follow-up there were no deaths, endocarditis, rhythm disturbances, or other complications. Arm fractures were observed almost exclusively with large CardioSEAL devices (40 mm, less frequently with 33 mm), and only in one 33-mm STARFlex device. There were no clinical complications related to fractures. CONCLUSIONS: The STARFlex device seems to offer better results than the CardioSEAL, with significantly lower rates of residual shunts and arm fractures.

Lack of effects of recombinant human growth hormone in a child with a complex cardiovascular malformation and dilated cardiomyopathy.

Recent studies have suggested the beneficial effects of GH treatment in patients with dilated cardiomyopathy. We have treated with recombinant human growth hormone (rhGH) a 6-year-old female with a complex congenital heart defect (severe tricuspid hypoplasia and malposition of the great arteries), who developed a progressive dilated cardiomyopathy of unknown etiology. rhGH treatment (0,1 U/kg/day, for 3 months) did not improve cardiac function, nor clinical symptoms, although we have no clear explanations for this. However, a trial with rhGH may be offered to children with dilated cardiomyopathy and waiting for heart transplantation.

Rapid reversal of dilated cardiomyopathy following removal of neuroblastoma.

Reported is a child with dilated cardiomyopathy, in whom medical therapy resulted in a mild improvement of cardiac function. Metabolic studies suggested the presence of a catecholamine-secreting tumour; and an adrenal neuroblastoma was identified and surgically removed. Following surgery, there was progressive and complete normalization of cardiac function. Although very rare, neurogenic tumours may be involved in the development of a dilated cardiomyopathy in the infant and child.

Mechanical valves in the pulmonary position: a reappraisal.

OBJECTIVES: To evaluate midterm results of mechanical valves in pulmonary position in patients with pulmonary regurgitation and right ventricular dysfunction as an alternative to bioprostheses. PATIENTS: Mechanical valves (six tilting disc valves and two bileaflet valves) were implanted in eight patients previously operated on for tetralogy of Fallot (n = 7) and truncus arteriosus (n = 1), with severe right ventricular dysfunction caused by massive pulmonary regurgitation. RESULTS: All patients survived prosthesis implantation and are currently well. At follow-up (3 months to 9 years), they do not show signs of valve failure, and right ventricular function has dramatically improved in all but one, who still shows moderate ventricular hypokinesia. CONCLUSION: After operative correction of congenital heart defects in selected patients who show severe dysfunction of the right ventricle caused by pulmonary regurgitation/stenosis, mechanical valves may represent an alternative to bioprosthetic valves. The selection of the valve type is still a matter of debate. However, according to literature data, complications seem to have occurred only in patients with bileaflet mechanical valves in the pulmonary position, whereas no thromboembolic episodes or valve failure is reported in subjects with tilting disc valves in the right ventricular outflow. Tilting disc valves might perform better in the right ventricular outflow than bileaflet valves.