Non-occlusive mesenteric ischemia (NOMI) and prognostic signs at CT: reperfusion or not reperfusion that is the question!

Purpose: Non-occlusive mesenteric ischemia (NOMI) is a misdiagnosed and dangerous condition. To our knowledge, a comprehensive evaluation of CT parameters that can predict the outcome of patients suffering from NOMI is still missing.

Materials And Methods: Contrast-enhanced CT examination of 84 patients with a confirmed diagnosis of NOMI (37 with clinical and laboratory confirmation and 47 biopsy or surgery proven) was retrospectively reviewed by assessing vessels, mesentery, bowel, and peritoneal cavity CT quantitative and dichotomous parameters, and data were analyzed with Fisher's test.

Coronavirus HKU 1 infection with bronchiolitis, pericardial effusion and acute respiratory failure in obese adult female.

Seven species of coronavirus cause acute respiratory illness in humans. Coronavirus HKU 1 (CoV HKU 1) was first described in 2005 in an adult patient with pneumonia in Hong Kong. Although it is a well-known respiratory tract pathogen, there is not much information about its role in hospitalized adults, especially in southern Europe.

Unusual solution to abdominal pain with contrast enhanced ultrasound.

Splenic infarction might be the symptom onset of an important underlying disease. The possibility of splenic infarction must be inserted into differential diagnosis in all those patients who have pain in the upper left quadrant and/or on the left flank. When faced with a case of splenic infarction in a patient who has flown or climbed to high altitudes, it is appropriate to consider the possibility of an haemoglobinopathy.

Integrated Method for Personal Thermal Comfort Assessment and Optimization through Users' Feedback, IoT and Machine Learning: A Case Study .

Thermal comfort has become a topic issue in building performance assessment as well as energy efficiency. Three methods are mainly recognized for its assessment. Two of them based on standardized methodologies, face the problem by considering the indoor environment in steady-state conditions (PMV and PPD) and users as active subjects whose thermal perception is influenced by outdoor climatic conditions (adaptive approach).

Which method is best for an early accurate diagnosis of acute heart failure? Comparison between lung ultrasound, chest X-ray and NT pro-BNP performance: a prospective study.

Acute heart failure is a common condition among adults presenting with dyspnea in the Emergency Department (ED), still the diagnosis is challenging as objective standardized criteria are lacking. First line work-up, other then clinical findings, is nowadays made with lung ultrasound imaging study, chest X-ray study and brain natriuretic peptide (BNP) level determination; however, it is not clear which is the best diagnostic test to be used and whether there is any real benefit for clinical judgement. We set up this study to compare the performances of these three diagnostic tools; furthermore, we combined them to find the best possible approach to dyspneic patients.

Intestinal Stenosis of Garré: An Old Problem Revisited.

Background: Intestinal stenosis of Garré, first described in 1892, is a rare condition as a consequence of a complicated strangulated hernia. Preoperative diagnosis is challenging because of unspecific symptoms. Proper anamnesis, especially in terms of clinical and surgical history, as well as careful examination of both inguinal spaces is essential.

Decreased plasma endogenous soluble RAGE, and enhanced adipokine secretion, oxidative stress and platelet/coagulative activation identify non-alcoholic fatty liver disease among patients with familial combined hyperlipidemia and/or metabolic syndrome.

Objective: In patients with familial combined hyperlipidemia (FCHL), without metabolic syndrome (MS), occurrence of non-alcoholic fatty liver disease (NAFLD) is related to a specific pro-inflammatory profile, influenced by genetic traits, involved in oxidative stress and adipokine secretion. Among FCHL or MS patients, hyperactivity of the ligand-receptor for advanced glycation-end-products (RAGE) pathway, as reflected by inadequate protective response by the endogenous secretory (es)RAGE, in concert with genetic predisposition, may identify those with NAFLD even before and regardless of MS.

Methods: We cross-sectionally compared 60 patients with vs.

Unrecognized lung disease in classic Rett syndrome: a physiologic and high-resolution CT imaging study.

Background: Breathing disorders in Rett Syndrome (RS) have been generally attributed to severe autonomic and/or brain stem dysfunction, and, to our knowledge, no information regarding lung morphologic characteristics exists to date. The aim of the present study was to determine if there are RS-associated pulmonary abnormalities.

Methods: A total of 27 female subjects (age, M +/- SD: 12.

Systemic oxidative stress in classic Rett syndrome.

Rett syndrome (RS), a progressive severe neurodevelopmental disorder mainly caused by de novo mutations in the X-chromosomal MeCP2 gene encoding the transcriptional regulator methyl-CpG-binding protein 2, is a leading cause of mental retardation with autistic features in females. However, its pathogenesis remains incompletely understood, and no effective therapy is available to date. We hypothesized that a systemic oxidative stress may play a key role in the pathogenesis of classic RS.

Three-dimensional analysis of pulmonary nodules by MSCT with Advanced Lung Analysis (ALA1) software.

Purpose: The purpose of this study was to test the reproducibility of the three-dimensional (3D) Advanced Lung Analysis software (3D-ALA, GE Healthcare) in the estimation of pulmonary nodule volume.

Materials And Methods: We retrospectively reviewed the unenhanced multislice CT scans (Lightspeed Pro 16 GE) of 77 patients with a solitary pulmonary nodule (n=71) or metastatic pulmonary disease (n=6). A total of 103 pulmonary nodules (19 well-circumscribed, 45 juxtavascular and 39 juxtapleural) were analysed grouped into five classes based on diameter: <5 mm, 10 nodules (9.

Ultrastructural findings in the peripheral nerve in a family with the intermediate form of Charcot-Marie-Tooth disease.

The authors describe here the ultrastructural findings in peripheral nerve biopsies from two affected members of a family with a previously undescribed intermediate form of Charcot-Marie-Tooth (CMT) disease. We found prevalent demyelinating features such as onion bulbs and myelin splits with uncompacted and irregularly enlarged lamellae, mostly at the Schmidt-Lantermann incisures and in paranodal region. Signs of a chronic axonopathy such as regeneration clusters, large fiber loss, Büngner's bands and unmyelinated fiber involvement were also seen.

Autonomic nervous system and smooth muscle cell involvement in systemic sclerosis: ultrastructural study of 3 cases.

Objective: To investigate morphological abnormalities in nerve and smooth muscle structures of the anorectal wall underlying gastrointestinal dysfunction in patients with systemic sclerosis (SSc).

Methods: We performed deep rectal biopsy in 3 patients with limited scleroderma of relatively recent onset and intestinal symptoms.

Results: We found ultrastructural signs of axonal degeneration and cytoskeletal abnormalities in the bundles of unmyelinated fibers.

Type I sialidosis: a clinical, biochemical and neuroradiological study.

We report biochemical, morphological and neuroradiological findings in a 40-year-old woman affected with type I sialidosis. The clinical symptoms, consisting of a cerebellar syndrome, were first noted at the age of 17 years. The macular cherry-red spot was first observed after 23 years of disease.

Early synthesis and correlation of serum anti-thyroid antibodies with clinical parameters in multiple sclerosis.

A high frequency of anti-thyroid antibodies has been demonstrated in multiple sclerosis (MS), but there is a lack of data on the possible association of thyroid autoimmunity with disease activity. To assess whether anti-thyroid antibodies are synthesized early in MS or are induced over the course of the disease and whether or not they are correlated with clinical findings, we assayed serum anti-peroxidase and anti-thyroglobulin antibodies in 129 relapsing-remitting MS patients at the time of diagnosis and prior to any immunosuppressive or immunomodulatory treatment. Anti-peroxidase antibodies were detected in 28/129 (21.

Inheritance of a 38-kb fragment in apparently sporadic facioscapulohumeral muscular dystrophy.

Facioscapulohumeral dystrophy (FSHD) is an autosomal-dominant muscular disorder associated with a short (<35 kb) EcoRI/BlnI fragment resulting from deletion of an integral number of units of a 3.3-kb repeat located at 4q35. In this study, we determined fragment sizes separated by pulsed-field gel electrophoresis in a patient with an apparently sporadic case of FSHD and in his healthy family members.

Detection of beta-A4 amyloid and its precursor protein in the muscle of a patient with juvenile neuronal ceroid lipofuscinosis (Spielmeyer-Vogt-Sjögren).

Muscle biopsy tissue from a patient affected by the juvenile form of neuronal ceroid lipofuscinosis (NCL) was studied immunohistochemically using antibodies to beta-amyloid peptide and amyloid precursor protein. Positive reaction in muscle was specifically localized to autophagic vacuoles and blood vessel walls. Increased acid phosphatase reaction suggested enhanced lysosomal activity.

A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia.

Objective: To search for mutations in the calcium channel gene CACNA1A and to study the genotype-phenotype correlation in a family with a severe familial hemiplegic migraine (FHM) phenotype and a slowly progressive cerebellar ataxia.

Background: CACNA1A gene mutations on chromosome 19 are involved in approximately 50% of FHM families. The association of FHM and cerebellar ataxia has been reported in a small number of FHM families, all linked to chromosome 19.

Ultrastructural study of enteric ganglia in three patients with Rett syndrome.

In order to verify whether a pseudo-obstruction syndrome was associated with morphological changes in enteric ganglia, we performed an ultrastructural study on rectal biopsy specimens in three patients with Rett syndrome. Features of enteric neurons, detected to a different extent in all three biopsy specimens, included an abnormal dilatation of endoplasmic reticulum with a disorganization of cisternae of the Golgi apparatus, and masses of unidentified electron-dense granulo-filamentous material, probably of lipidic origin, observed in the perikaryon. Large electron-lucent membrane-bound vacuoles were found mostly within satellite glial cells.

Neuronal intranuclear inclusion disease: neuropathologic study of a case.

We report neuropathological findings in a 22-year-old man affected with neuronal intranuclear inclusion disease. The inclusions affected to different extents the various structures of the central nervous system, being more numerous in cerebral cortex, inferior olives, hypoglossal and oculomotor nuclei. They ultrastructurally differed from Marinesco bodies.

CAG repeat expansion in an italian family with spinocerebellar ataxia type 2 (SCA2): a clinical and genetic study.

We report an Italian family in which molecular genetic analysis showed expansion of CAG repeats indicative of the SCA2 genotype. This family confirms that ataxia, ophthalmoparesis and sensory peripheral neuropathy are the salient features of the SCA2 phenotype. In the present cases, early onset and mental deterioration were important additional findings.

Juvenile Leigh syndrome with protracted course presenting as chronic sensory motor neuropathy, ataxia, deafness and retinitis pigmentosa: a clinicopathological report.

We herein describe a male patient who died at 37 years of age, after having suffered from a slowly progressive syndrome of chronic sensory motor neuropathy, deafness, retinitis pigmentosa and ataxia. The neuropathological study showed symmetric areas of necrosis and demyelination affecting the cerebellum and brainstem. The type of lesion was consistent with the characteristics of Leigh Syndrome.