Dynamic balance assessment during gait in children with Down and Prader-Willi syndromes using inertial sensors.

Down (DS) and Prader-Willi (PWS) syndromes are chromosomal disorders both characterized by obesity, ligament laxity, and hypotonia, the latter associated with gait instability. Although these shared features may justify a common rehabilitation approach, evidence exists that adults with DS and PWS adopt different postural and walking strategies. The development of an instrumented protocol able to describe these strategies and quantify patients' gait stability in the current clinical routine would be of great benefit for health professionals, allowing them to design personalized rehabilitation programs. This is particularly true for children with DS and PWS, where motor development is dramatically constrained by severe hypotonia and muscle weakness. The aim of this study was, thus, to propose an instrumented protocol, integrated with the clinical routine and based on the use of wearable inertial sensors, to assess gait stability in DS and PWS children. Fifteen children with DS, 11 children with PWS, and 12 typically developing children (CG) were involved in the study. Participants performed a 10-meter walking test while wearing four inertial sensors located at pelvis, sternum, and both distal tibiae levels. Spatiotemporal parameters (walking speed, stride frequency, and stride length) and a set of indices related to gait symmetry and upper-body stability (Root Mean Square, Attenuation Coefficient and Improved Harmonic Ratio) were estimated from pelvis and sternum accelerations. The Gross Motor Functional Measures (GMFM-88) and Intelligence Quotient (IQ Wechsler) were also assessed for each patient. A correlation analysis among the GMFM-88 and IQ scales and the estimated parameters was then performed. Children with DS and PWS exhibit reduced gait symmetry and higher accelerations at pelvis level than CG. While these accelerations are attenuated by about 40% at sternum level in CG and DS, PWS children display significant smaller attenuations, thus reporting reduced gait stability, most likely due to their typical "Trendelenburg gait". Significant correlations were found between the estimated parameters and the GMFM-88 scale when considering the whole PWS and DS group and the PWS group alone. These results promote the adoption of wearable technology in clinical routines to monitor gait patterns in children with DS and PWS: the proposed protocol allows to markedly characterize patient-specific motor limitations even when clinical assessment scores provide similar results in terms of pathology severity. This protocol could be adopted to support health professionals in designing personalized treatments that, in turn, could help improving patients' quality of life in terms of both physical and social perspectives.

Ionized calcium/total calcium ratio during biofiltration.

The transmembrane transfer of calcium during hemodialysis is related to many factors (calcium gradient, plasma volume flow, plasma concentration of phosphate). During biofiltration the high ultrafiltration rate reduces the net transfer of calcium from dialysate to patient. Prolonged metabolic alkalosis occurs during biofiltration, lowering the ionized calcium/total calcium ratio. These two factors may stimulate PTH secretion, with negative long-term effects in dialysis bone disease.

[The treatment of spontaneous pneumothorax. A report on 160 cases]. / Il trattamento del pneumotorace spontaneo. Osservazione di 160 casi.

The results achieved in the treatment of 160 cases of spontaneous pneumothorax in 1976-1986 are examined. Pleural aspiration drainage was practised in 141 cases and produced a permanent cure. 5 cases were surgically treated. Hospitalisation time was less than 16 days in 110 cases.

[Comparison of endoscopic aspects and cytohistological patterns in primary lung neoplasia]. / Raffronto tra aspetti endoscopici e quadri cito-istologici nelle neoplasie polmonari primitive.

Four-hundred and thirty-six patients recognized affected by primitive lung neoplasia have been examined to prove possible correlation between the endoscopic aspects, histologic type and central or peripheral localization of the neoplasia. The diagnostic sensibility of the different cytohistological techniques used in fiberoptic bronchoscopy have been valued too. For the peripheral localizations the diagnosis has been obtained in most cases by using fine needle percutaneous aspiration.

[Cervical thymic cysts. A clinical case report]. / Le cisti timiche cervicali. Presentazione di un caso clinico.

The presence of thymic residues in a laterocervical site is very rare, as is cystic degeneration. The paper reports the case of a six-year-old boy who presented a swelling in a left laterocervical site; preoperative tests (especially echography and fine needle aspiration) identified the cystic nature of the swelling which was then confirmed intraoperatively; histological test diagnosed a thymic cyst. The paper analyses the embryological, anatomopathological and clinical aspects of these formations and underlines the difficulty of making a differential diagnosis from other neck pathologies, especially branchial cysts. In conclusion, preoperative tests can only determine the cystic component but not the thymic origin of these formations which can only be confirmed by final histological tests.

[Diverticulitis of the right colon. Presentation of a clinical case]. / La diverticolite del colon destro. Segnalazione di un caso clinico.

The recent observation of one case of diverticulitis of the right colon led to an evaluation of clinical diagnostic and therapeutic aspects of this comparatively rare condition, on the basis of reported data. Preoperative diagnosis is very difficult because it clinically resembles acute appendicitis in many ways, or because of the objective observation of a mass in the right iliac fossa. Instrumental examinations require preparation times that are often incompatible with the degree of surgical urgency. In the reported case, the inflammatory process was modest and treatment was straightforward, there being no diagnostic doubts. This confirms the fact that in so-called "usual" cases, the idea surgical approach must be as conservative as possible. In so-called "hidden" cases, on the other hand, the doubt as to the nature of the pathology often leads to extensive surgery, such as right hemicolectomy.

[Amyloid goiter]. / Il gozzo amiloide.

Amyloid goitre, defined as diffuse hyperplasia of the thyroid due to infiltration of amyloid substance, has been rarely reported as in confirmed by the latest reviews of the literature. This paper reports the case of a 23-year-old patient with a long history of systemic amyloidosis probably secondary to a Mediterranean fever with diffuse lymphoadenopathy, hepatosplenomegaly and chronic renal insufficiency, who was referred to our attention due to a struma which had increased in volume over the past few years. Aspirated needle biopsy showed the presence of amyloid and the patient underwent total thyroidectomy; the histological test confirmed amyloid struma. The postoperative evolution was normal and characterised by a slight but transient deterioration of renal function. The authors stress the importance of cytological tests using aspirated needle biopsy under polarised light and after Congo Red staining; this is the only test which enables a preoperative diagnosis to be made, thus conditioning the choice of surgery, even if full thyroidectomy is almost certain given the size of the goitre and the systemic pathogenesis of amyloidosis.

[Mechanical entero-enteral anastomosis in surgery of the upper digestive tract]. / L'entero-entero anastomosi meccanica nella chirurgia del TGE superiore.

The authors analyse the results relating to the use of a technical variation of entero-enteroanastomosis preparation in the reconstruction of the continuity of upper digestive tract with a defunctionalised Roux en Y loop. This variation includes the use of a circular Proximate ILS mechanical stapler. The series examined, operated during the period June 1993 to November 1994, includes a total of 57 patients, of which 51 with gastric neoplasia. 43 cases underwent total gastrotectomy with R1-R2 lymphoadenectomy and 8 cases underwent gastroresection; a further 3 emergency operations were performed for benign pathologies responsible for upper digestive tract hemorrhage. Moreover, in the 3 remaining cases 2 cysto-jejunal derivations for pancreatic pseudocysts were also performed using the same method, together with 1 hepaticojejunostomy secondary to calculosis of the common hepatic duct. Attention is focused on the analysis and description of the operating technique in order to identify the basic key stages as accurately as possible. In conclusion, the authors indicate that, in view of the excellence of results and the simple and rapid technical execution of this entero-enteroanastomosis, the use of this method was amply justified and undoubtedly advantageous both for surgeons and patients.

[Complicated Spigelian hernia. A case report]. / Ernia di Spigelio complicata. Caso clinico.

Prompted by the observation of a case of lateral ventral Spigelian hernia complicated by strangulation and manifested by symptoms of small intestine occlusion, the authors describe the anatomo-surgical characteristics of the abdominal site of this pathology. They analyse the various diagnostic and subsequently surgical options available to the surgeon when dealing with this pathology. This is achieved with reference to data reported in the current international literature on the subject. Lastly, the authors provide a series of evocative images obtained during the diagnosis of the patient treated and of the results achieved following surgery and a 1-year follow-up after the operation.

[The use of the BAR-Valtrac-type pressure stapler in surgery of the large intestine]. / L'impiego delle suturatrici a pressione tipo BAR-Valtrac nella chirurgia del grosso intestino.

A total of 148 patients underwent colon resection between June 1993 and November 1994 at the General Surgery Division of Busto Arsizio Hospital; anastomosis was performed using BAR Valtrac in 58 patients (39%), namely 28 males and 30 women with a mean age of 66.3 years. Surgery was elective in 90% of cases and in 84% of patients was secondary to neoplastic pathologies. Recanalisation occurred within a mean of 5.5 days after surgery, whereas the average hospital stay was 14.4 days. The authors report the absence of mortality and the low morbidity levels connected to the use of this anastomotic technique. Emphasis is also laid on the absence of anastomotic stenosis in all endoscopic controls performed to date.

HCV infections in dialysis patients.

HCV is seen as an emergent problem in Dialysis Units; in fact, the patients of these centers are at high risk for blood-transmitted infections, through coming microepidemies. For this reason and using the same method, we have studied the prevalence of anti-HCV and virus-derived hepatitis in a dialytic population of 105 patients. The prevalence of anti-HCV was 25.71%.

Polymorphism of the angiotensin-converting enzyme gene in end-stage renal failure patients.

The plasma levels of angiotensin-converting enzyme (ACE) are modulated by the insertion (I)/deletion (D) polymorphism within the ACE gene locus. An association between progressive renal disease, raised cardiovascular risk, and ACE plasma levels has been shown. To evaluate the genotype frequencies of the I/D polymorphism in terminal renal failure, we have enrolled 341 dialysis patients (321 on hemodialysis and 20 on peritoneal dialysis) in a district of southern Italy (Foggia). As controls, 1,307 subjects from the same area have been enrolled. Genomic DNA was obtained from leukocytes, and the ACE I/D polymorphism was determined by polymerase chain reaction. Among uremics, 151 subjects (44.3%) carried the DD genotype, 149 (43.7%) the ID, and 41 (12.0%) the II genotype. In controls, 560 subjects (42.8%) had the DD genotype, 577 (44.1%) the ID, and 170 (13.1%) the II genotype (p = n.s.). Among patients, the frequency of DD subjects was higher in men (48.3%) than in women (39. 7%, p < 0.01). A slight different frequency of the DD genotype was found according to the duration of dialysis treatment: 47.5% in patients on dialysis up to 60 months and 41.7 and 40.6% in those with a dialytic age of 60-120 and >120 months, respectively (p for trend: 0.53). Patients with or without cardiovascular diseases, such as hypertension, left ventricular hypertrophy, coronary artery disease, and chronic cardiac failure, did not exhibit any difference in ACE I/D allele and genotype frequencies (p always >0.05). In conclusion, frequencies of the ACE DD genotype were similar in uremics and in controls and did not differ between patients with and without cardiovascular diseases. A nonsignificant inverse relationship with the time spent on dialysis was observed, suggesting that ACE I/D polymorphism may influence the cardiovascular death rate.