Taking care of inpatients with fragility hip fractures: the hip-padua osteosarcopenia (Hip-POS) fracture liaison service model.

PURPOSE: Osteoporotic fragility fractures (FF), particularly those affecting the hip, represent a major clinical and socio-economic concern. These fractures can lead to various adverse outcomes, which may be exacerbated by the presence of sarcopenia, especially among older and frail patients. Early identification of patients with FF is crucial for implementing effective diagnostic and therapeutic strategies to prevent subsequent fractures and their associated consequences. METHODS: The Hip-POS program, implemented at Azienda Ospedale-Università Padova, is a Fracture Liaison Service (FLS) program to evaluate patients aged > 50 years old admitted with fragility hip fractures, involving an interdisciplinary team. After the identification of patients with hip fractures in the Emergency Department, a comprehensive evaluation is conducted to identify risk factors for further fractures, and to assess the main domains of multidimensional geriatric assessment, including muscle status. Patients are then prescribed with anti-fracture therapy, finally undergoing periodic follow-up visits. RESULTS: During the first five months, a total of 250 patients were evaluated (70.4% women, median age 85 years). Following assessment by the Hip-POS team, compared to pre-hospitalization, the proportion of patients not receiving antifracture therapy decreased significantly from 60 to 21%. The prescription rates of vitamin D and calcium increased markedly from 29.6% to 81%. CONCLUSIONS: We introduced the Hip-POS program for the care of older adults with hip fractures. We aspire that our model will represent a promising approach to enhancing post-fracture care by addressing the multifactorial nature of osteoporosis and its consequences, bridging the gap in secondary fracture prevention, and improving patient outcomes.

The relevance of MRI blood-sensitive sequences in the diagnostic assessment of late-onset epilepsy.

OBJECTIVE: Sporadic cerebral amyloid angiopathy (CAA) is a degenerative brain small vessel disease of ageing resulting from progressive amyloid deposition in small arteries and arterioles of the cortex and leptomeninges. CAA may be diagnosed by the mean of Boston criteria, particularly with the use of the blood-sensitive T2* MRI sequences (GRE and SWI). Epileptic seizures have rarely been reported in CAA. PATIENTS AND METHODS: We describe two patients with late-onset unprovoked seizures due to CAA. A short literature review on this topic is presented. RESULTS: In our two patients with late-onset unprovoked seizures as the first manifestation of CAA, only GRE and SWI sequences lead to a correct diagnosis. In literature, only 15 patients with CAA presenting with seizures have been reported. In these subjects, data on seizures semiology and prognosis are scarce. CONCLUSIONS: Our report highlights the importance to perform blood-sensitive sequences in all subjects with LOE of otherwise unknown etiology, not to miss a diagnosis of CAA.

Functional convergence spasm: an unexpected finding in a patient with focal epilepsy.

OBJECTIVE: Convergence spasm is a clinical condition characterized by transient episodes of convergence, miosis and accommodation with strabismus and diplopia and it is usually a manifestation of a functional neurological disorder. We describe a patient with a challenging diagnosis of convergence spasm in the setting of occipital lobe epilepsy. CASE REPORT: A 52-year-old woman came for the assessment of focal epilepsy due to left occipital cortical dysplasia. During ocular motility tests, she presented with episodes of short duration (~10-30 seconds) of convergent strabismus. Neuropsychological evaluation showed a severe mixed anxiety-depressive disorder with a tendency toward somatization. RESULTS: Convergence spasm was recorded during video-EEG examination and no ictal activity was present. CONCLUSIONS: To our knowledge, no other report of functional convergence spasm in the context of focal epilepsy associated with cortical dysplasia has been described in literature.

Novel COL4A2 mutation causing familial malformations of cortical development.

OBJECTIVE: This article aimed to describe a novel COL4A2 mutation and the phenotypic features of two family members presenting with epilepsy and cortical development malformations. PATIENTS AND METHODS: The first patient is a 65-year-old woman with hematuria and adult-onset seizures. Brain MRI showed closed lip schizencephaly of right lateral sulcus associated with polymicrogyria of the surrounding cortex and areas of subcortical heterotopia. The second patient is a 40-year-old man, her son. He was born post-term with neonatal distress and psychomotor developmental delay with congenital left leg paresis and strabismus, as well as childhood-onset focal motor seizures. Brain MRI showed a right nucleus-capsular porencephalic cavitation with enlargement of the homolateral ventricle and a focal right occipital cortico-subcortical encephalomalacia. A small heterotopic band was also present in the frontal left subcortical region. RESULTS: We tested both patients with a NGS panel for genetic epilepsies, which evidenced a missense mutation in COL4A2 gene (c.2972G>A, causing the aminoacidic substitution Gly991Glu). CONCLUSIONS: The phenotypic spectrum associated with COL4A2 mutations has not been extensively described in the literature. Testing for COL4A mutations is indicated in patients with malformations of cortical development, particularly in the presence of familial conditions, even in the absence of porencephaly or early hemorrhagic strokes.

Oxidative stress biomarkers in Fabry disease: is there a room for them?

BACKGROUND: Fabry disease (FD) is an X-linked lysosomal storage disorder, caused by deficient activity of the alpha-galactosidase A enzyme leading to progressive and multisystemic accumulation of globotriaosylceramide. Recent data point toward oxidative stress signalling which could play an important role in both pathophysiology and disease progression. METHODS: We have examined oxidative stress biomarkers [Advanced Oxidation Protein Products (AOPP), Ferric Reducing Antioxidant Power (FRAP), thiolic groups] in blood samples from 60 patients and 77 healthy controls. RESULTS: AOPP levels were higher in patients than in controls (p < 0.00001) and patients presented decreased levels of antioxidant defences (FRAP and thiols) with respect to controls (p < 0.00001). In a small group of eight treatment-naïve subjects with FD-related mutations, we found altered levels of oxidative stress parameters and incipient signs of organ damage despite normal lyso-Gb3 levels. CONCLUSIONS: Oxidative stress occurs in FD in both treated and naïve patients, highlighting the need of further research in oxidative stress-targeted therapies. Furthermore, we found that oxidative stress biomarkers may represent early markers of disease in treatment-naïve patients with a potential role in helping interpretation of FD-related mutations and time to treatment decision.

Management of psychogenic non-epileptic seizures: a multidisciplinary approach.

The International League against Epilepsy (ILAE) proposed a diagnostic scheme for psychogenic non-epileptic seizure (PNES). The debate on ethical aspects of the diagnostic procedures is ongoing, the treatment is not standardized and management might differ according to age group. The objective was to reach an expert and stakeholder consensus on PNES management. A board comprising adult and child neurologists, neuropsychologists, psychiatrists, pharmacologists, experts in forensic medicine and bioethics as well as patients' representatives was formed. The board chose five main topics regarding PNES: diagnosis; ethical issues; psychiatric comorbidities; psychological treatment; and pharmacological treatment. After a systematic review of the literature, the board met in a consensus conference in Catanzaro (Italy). Further consultations using a model of Delphi panel were held. The global level of evidence for all topics was low. Even though most questions were formulated separately for children/adolescents and adults, no major age-related differences emerged. The board established that the approach to PNES diagnosis should comply with ILAE recommendations. Seizure induction was considered ethical, preferring the least invasive techniques. The board recommended looking carefully for mood disturbances, personality disorders and psychic trauma in persons with PNES and considering cognitive-behavioural therapy as a first-line psychological approach and pharmacological treatment to manage comorbid conditions, namely anxiety and depression. Psychogenic non-epileptic seizure management should be multidisciplinary. High-quality long-term studies are needed to standardize PNES management.

Fistulotomy in the tertiary setting can achieve high rates of fistula cure with an acceptable risk of deterioration in continence.

INTRODUCTION: Surgery is the mainstay of treatment of anal fistulas. Low fistulas are often laid open, but higher fistulas present a more difficult problem. Patient choice centres on a compromise between risk of recurrence and risk of impairment of continence. We aimed to determine the efficacy and safety of fistulotomy at a tertiary referral centre, in particular the additional risk of impairment of continence following fistulotomy of the often recurrent, multiply-operated patients seen. METHODS: Patients undergoing surgery under the senior author (RKSP) for an anal fistula during the study period (2005-2006) were identified, and a thorough review of the patients' clinical records was undertaken. Demographic, fistula anatomy, treatment and follow-up data were obtained. RESULTS: Eighty-four patients underwent either fistulotomy (50), insertion of permanent loose (drainage) seton (28) or EUA with or without drainage of abscess. Mean length of follow up was 11 months (SD 14.22). In the fistulotomy group, we found an overall success rate of 93 %. Secondary extensions were associated with failure to achieve cure (P = 0.008). Nine patients (20 %) suffered deterioration in continence after surgery. A longer time to referral was associated with impaired final continence. In the group referred from a surgeon in secondary care, 91 % of patients were cured, and continence impairment (mostly minor) rose from 32 % at referral to 40 % after surgery. CONCLUSIONS: We have shown that it is safe and reasonable to offer fistulotomy to appropriate patients despite previous surgery and within the tertiary setting. By so doing, a very high rate of healing can be achieved in patients who have previously failed. The additional risk of impairment of continence is around one in five, and in the majority will represent only minor incontinence.

Usefulness of rectal biopsy for the diagnosis of Kufs disease: a controlled study and review of the literature.

BACKGROUND AND PURPOSE: Rectal biopsy is usually performed for in vivo diagnosis of Kufs disease (KD). We evaluated the usefulness of rectal biopsy in the diagnosis of such condition by comparing ultrastructural data of patients with suspicion of KD with those of control subjects. Furthermore, we reviewed literature data concerning the value of such a diagnostic procedure in the diagnosis of KD. METHODS: Sixty-five subjects were enrolled and underwent rectal biopsy. Of these, 13 had a clinical picture in keeping with KD, whereas 52, affected by Irritable Bowel Syndrome, constituted the control group. RESULTS: Ultrastructural analysis evidenced fingerprint (FP) inclusions in 12 subjects, 4/13 with suspicion of KD and 8/52 controls. In patients, FPs were mainly located in vascular smooth muscle cells (VSMC) while in controls they were mostly found in pericytes and VSMC. No FPs were found in one patient with genetically confirmed KD. In literature, we identified 14 KD patients who underwent rectal biopsy. In most reports, ultrastructural features were not systematically analyzed or described. CONCLUSIONS: Fingerprints are the most common ultrastructural finding in rectal biopsy in patients with suspicion of KD. However, their presence in pericytes and VSMC is not specific for KD because they may be found in controls subjects. Our literature review revealed that data on the value of rectal biopsy in the diagnosis of KD are scarce. In light of these findings, the relevance of rectal biopsy in such condition should be re-evaluated.

Diffusion and practice of ultrasound in emergency medicine departments in Italy.

INTRODUCTION: This paper reports data from a cognitive survey on the diffusion, practice and organization of ultrasound (US) in emergency medicine departments (EMDs) in Italy. The study was carried out by the Emergency Medicine Section of the Italian Society for Ultrasound in Medicine and Biology (SIUMB) in collaboration with the Italian Society for Emergency Medicine and Urgent Care (SIMEU). METHODS: We created a questionnaire with 10 items, relating to 4 thematic areas. The questionnaires were administered from September 2007 to February 2008, by email, telephone or regular mail. In August 2008 the data were subjected to nonparametric statistical analysis (Spearman's Rho and Pearson's chi-square - software SPSS). RESULTS: We analyzed 170 questionnaires from the EMDs of all Italian regions. A US scanner is present in 64.7% of the ERs, emergency US (E-US) is practiced only in 47.6% of the ERs, and only in 24% of these more than 60% of the ER team members have training in US. The diffusion of US in other operative units of the EMDs ranges from 8.2% to 26.5%. DISCUSSION: The presence of a US scanner in the ER is essential for the practice and training and is correlated with the level of the EMD. The use of US appears to be less common in less equipped hospitals, regardless of the size of the ER and the availability of radiological services. Wider diffusion of US and greater integration with other services for the installment of the required equipment is to be hoped for.

Ultrasound duplex as a sole exam for surgical purposes in lower limb arterial obstructive disease.

BACKGROUND: The aim of the research is to value the efficacy of ultrasound duplex as a sole preoperative exam in peripheral Arterial Obstructive Disease (PAOD). Angiography is undoubtedly known as the gold standard, though its risks and complications. In the last decades duplex scanning and its variant, has proven to be an irreplaceable tool in the diagnosis of these disease. METHODS: We evaluated five previous studies that compare angiography to duplex scanning. RESULTS: Out of 273 cases, 207 (73.8%) had a good correspondence between the two methods; besides if we consider each arterial tract duplex reliability is better in distal diseases (159 cases out of 200, 79.5%) than in proximal (48 out of 73.65%) contrasting with an other meta-analytic evaluation made by Koelemay et al. Moreover we wanted to verify our personal experience, by the intention to treat method, if the surgical operation selected for our patients would have been the same based only on pre-operative echo-duplex scanning. After the analysis of about 20 files the research was interrupted because there was a perfect correspondence between the two exam only in three cases, all of them re-operation for graft branches obstruction. The lacks of duplex has been: 1) non identification of important lesions on the aorto-iliac tract; 2) insufficient location of distal disease. CONCLUSIONS: The angiography results the fundamental choice in the treatment of PAOD particularly in the distal tracts. Debatable is the role of echography in aorto-iliac portion, where a number of lesions may be effectively treated by endovascular procedures.

The LAST operation is safe and effective: MIDCABG clinical and angiographic evaluation.

BACKGROUND: The aim of this study was to prospectively evaluate the angiographic results of a cohort of consecutive patients who underwent minimally invasive coronary artery revascularization. METHODS: From May 1997 to December 1998, 150 consecutive patients underwent left internal mammary artery to left anterior descending artery anastomosis through a left minithoracotomy on a beating heart in the Cardiovascular Department of Cliniche Gavazzeni, Bergamo, Italy. The mean age was 61.6 years (range, 36 to 84 years); 121 patients (81%) were men. Isolated left anterior descending artery disease was present in 74 patients. RESULTS: In-hospital patency was observed in 100% of the 149 angiographically controlled patients with no anomalies in 99.3% of the anastomoses. Anastomosis was performed on a diseased tract of the target vessel in 3 patients and a stenosis of the target vessel beyond the anastomosis was documented in 3 patients. In one case early angiographic control was not performed due to death of the patient on the 1st postoperative day. The morbidity included postoperative bleeding that required reopening (3.3%) and intraoperative myocardial infarction (2%). CONCLUSIONS: A left internal mammary artery to left anterior descending artery anastomosis on a beating heart through a left minithoracotomy is an alternative approach to myocardial revascularization. Surgical invasiveness is limited, cardiopulmonary bypass risks are avoided, and the procedure is safe and effective. In our consecutive series, postoperative angiographic controls demonstrated graft patency in all patients and very high quality anastomoses. Midterm clinical follow-up (14 months) appears favorable.

Effect of withdrawal of pravastatin on biliary lipid composition in humans.

Abrupt withdrawal of HMG-CoA reductase inhibitors is associated with increased excretion of cholesterol into bile, but this phenomenon has not been investigated in humans. In order to evaluate whether patients interrupting these hypolipidemic drugs are at increased risk of forming gallstones, pravastatin (40 mg twice a day) or placebo was randomly administered to 16 bile fistula patients for 5 days. Biliary lipid composition was determined in basal conditions and for 5 consecutive days after drug withdrawal. Both biliary cholesterol concentration and saturation increased significantly on the second day after pravastatin withdrawal, but tended to decrease thereafter. Biliary bile acids and phospholipids were not affected. This short-lasting effect on biliary cholesterol excretion was probably the result of a transient increase of hepatic cholesterol synthesis by the up-regulated HMG-CoA reductase in the absence of the inhibitory drug. These results are consistent with the hypothesis that, also in humans, biliary cholesterol excretion could be dependent on the hepatic free cholesterol pool.

Ultrasonic evaluation of gallbladder emptying with ceruletide.

In order to develop a practical and reproducible method to assess gallbladder function, gallbladder emptying was studied by ultrasound in 27 gallstone patients after i.m. administration of ceruletide (0.3 micrograms/kg), and the procedure was compared to oral cholecystography with fatty meal. Maximal percent gallbladder contraction was reached in all patients 30 min after ceruletide. Maximal percent contractions were 47.5 +/- 27.7 during ultrasound with ceruletide and 33.9 +/- 16.3 during oral cholecystography with fatty meal (p = 0.03). A significant linear relationship was found between the results obtained with the two different procedures (r = 0.57; p = 0.002). Serial ultrasound determinations of gallbladder emptying were performed in 16 patients. Day-to-day variation was below 20% in 11 subjects, and it ranged between 20 and 40% in 5 subjects. Minor side effects were observed in 9 patients. Ultrasound determination of gallbladder emptying after ceruletide appears to be a practical and reliable method to assess gallbladder function.

Effect of tauroursodeoxycholic acid (TUDCA) on biliary lipid composition.

TUDCA has been proposed in the treatment of hepatobiliary disease, but data on the enrichment of the biliary TUDCA pool and changes of biliary lipids after administration of the compound are scarce. We studied the composition of biliary lipids in a series of 33 patients with radiolucent stones, before and after treatment with TUDCA, 3.5 to 16.6 mg/kg/die for 4-6 weeks. Duodenal bile was collected with the Entero-Test after gallbladder contraction. Cholesterol saturation was 147% + 67 before treatment. TUDCA administration produced the following dose-dependent effects: a) a linear decrease of cholesterol saturation (r = 0.59; p); b) a non-linear increase of the percent of ursodeoxycholate in bile (r = 0.59; p); c) a non-linear increase of the fraction of ursodeoxycholate conjugated with taurine. At the dose of 11 mg/kg per day, cholesterol saturation was 80%, ursodeoxycholic acid represented about 45% of biliary bile acids, and about half of urso was conjugated with taurine. These results can be used as guidelines to assess the required daily dosage of TUDCA.

Effect of tauroursodeoxycholic acid on biliary lipid composition. A dose-response study.

Tauroursodeoxycholic acid has been proposed for the treatment of hepatobiliary disease, but data on the enrichment of biliary tauroursodeoxycholic acid pool and on changes of biliary lipids after administration of the compound are scarce. We studied the composition of biliary lipids in a series of 33 patients with radiolucent stones, before and after treatment with tauroursodeoxycholic acid, 3.5 - 16.6 mg/kg/day for 4 - 6 weeks. Duodenal bile was collected with the Entero-Test after gallbladder contraction. Tauroursodeoxycholic acid administration produced the following dose-dependent effects: a linear decrease of cholesterol saturation (r = 0.59, p < 0.001); a non-linear increase of the percent of ursodeoxycholic acid in bile (r = 0.59, p < 0.001); a non-linear increase of the fraction of ursodeoxycholate conjugated with taurine. At the dose of 11 mg/kg per day, cholesterol saturation was 80%, ursodeoxycholic acid represented about 45% of biliary bile acids, and about half of UDCA was conjugated with taurine. Biliary bile acids were repeatedly measured in 6 patients during long-term treatment with 9.7 - 12.1 mg/kg. The fraction of tauroursodeoxycholic acid decreased progressively from 67.6% +/- 10.5 to 29.1% +/- 5. Tauroursodeoxycholic acid is as effective as ursodeoxycholic acid on a molar basis in reducing biliary cholesterol saturation and in enriching bile with ursodeoxycholate. Moreover, tauroursodeoxycholic acid administration is associated with higher concentrations of tauroconjugates in the bile than those previously reported by feeding the free bile acid.

Ultrasonic evaluation of gallbladder emptying with ceruletide: comparison to oral cholecystography with fatty meal.

Assessment of gallbladder function is required prior to nonsurgical treatment of gallstones. In order to develop a practical and reproducible method of evaluation, gallbladder emptying was studied by ultrasound (US) in 55 gallstone patients after intramuscular administration of ceruletide (0.3 micrograms/kg). In 27 of these subjects, the US procedure was compared to oral cholecystography (OCG) with fatty meal. Maximal percent gallbladder contraction was reached 30 min after ceruletide in all patients. Maximal percent contractions were 47.5 +/- 27.7 during US with ceruletide and 33.9 +/- 16.3 during OCG with fatty meal (p = 0.03). A significant linear relationship was found between the results obtained with the two different procedures (r = 0.57; p = 0.002). Serial US determinations of gallbladder emptying were performed in 16 patients. Individual variation was below 20% in 11 subjects, and in five subjects it ranged between 20 and 40%. Minor, self-limiting side effects were observed in 13 patients. US determination of gallbladder emptying after ceruletide appears to be a practical and reliable method to assess gallbladder function.

Routine determination of biliary lipid composition with the entero-test.

A simple method for the assay of biliary lipids was used for routine determination of biliary cholesterol saturation index (CSI) in 17 healthy subjects, 40 untreated patients with radiolucent gallstones and 21 gallstone patients treated with ursodiol. The method is based on collection of bile with the Entero-Test, a device for easy sampling of gastrointestinal contents. The procedure was easy to perform and well accepted by the patients. Both CSI and the cholesterol content of bile were higher in untreated gallstone patients than in controls, and were significantly lower in treated than in untreated patients. Normal CSI was found in 35% of untreated gallstone patients, while 24% of healthy subjects had supersaturated bile. Supersaturated bile was still present in 14% of ursodeoxycholic acid treated patients, suggesting inefficacy of therapy. These results demonstrate the possibility of performing easy, routine determination of biliary lipid composition, which can yield useful information for the management of gallstone patients.