A fatal case of neonatal onset multiple acyl-CoA dehydrogenase deficiency caused by novel mutation of ETFDH gene: case report.

Background: Multiple acyl-CoA dehydrogenase deficiency (MADD) or glutaric aciduria type II is an extremely rare autosomal recessive inborn error of fatty acid beta oxidation and branched-chain amino acids, secondary to mutations in the genes encoding the electron transfer flavoproteins A and B (ETFs; ETFA or ETFB) or ETF dehydrogenase (ETFDH). The clinical manifestation of MADD are heterogeneous, from severe neonatal forms to mild late-onset forms.

Case Presentation: We report the case of a preterm newborn who died a few days after birth for a severe picture of untreatable metabolic acidosis.

Cadherin-13 is a critical regulator of GABAergic modulation in human stem-cell-derived neuronal networks.

Activity in the healthy brain relies on a concerted interplay of excitation (E) and inhibition (I) via balanced synaptic communication between glutamatergic and GABAergic neurons. A growing number of studies imply that disruption of this E/I balance is a commonality in many brain disorders; however, obtaining mechanistic insight into these disruptions, with translational value for the patient, has typically been hampered by methodological limitations. Cadherin-13 (CDH13) has been associated with autism and attention-deficit/hyperactivity disorder.

First Measurement of a Long-Lived π^{+}π^{-} Atom Lifetime.

The adapted DIRAC experiment at the CERN PS accelerator observed for the first time long-lived hydrogenlike π^{+}π^{-} atoms, produced by protons hitting a beryllium target. A part of these atoms crossed the gap of 96 mm between the target and a 2.1  μm thick platinum foil, in which most of them dissociated.

Intraoperative initiation of a modified ARDSNet protocol increases survival of septic patients with severe acute respiratory distress syndrome.

Purpose: To assess the intraoperative initiation and feasibility of a modified NIH-NHLBI ARDS Network Mechanical Ventilation Protocol (mARDSNet protocol) in septic patients with severe ARDS.

Materials And Methods: This prospective observational study included consecutive adult septic patients with severe ARDS who underwent emergency abdominal surgery prior to intensive care unit (ICU) admission. The primary outcome was survival to hospital discharge and at 90 days.

Development and Testing of a Novel Anaesthesia Induction/Ventilation Protocol for Patients With Cardiogenic Shock Complicating Acute Myocardial Infarction.

Background: Cardiogenic shock is a life-threatening condition and patients might require rapid sequence induction (RSI) and mechanical ventilation. In this study, we evaluated a new RSI/mechanical ventilation protocol in patients with acute myocardial infarction complicated by cardiogenic shock.

Methods: We included consecutive adult patients who were transferred to the emergency department.

Observation of π^{-}K^{+} and π^{+}K^{-} Atoms.

The observation of hydrogenlike πK atoms, consisting of π^{-}K^{+} or π^{+}K^{-} mesons, is presented. The atoms are produced by 24  GeV/c protons from the CERN PS accelerator, interacting with platinum or nickel foil targets. The breakup (ionization) of πK atoms in the same targets yields characteristic πK pairs, called "atomic pairs," with small relative momenta Q in the pair center-of-mass system.

Transitions to and from the acute inpatient care setting for children with life-threatening illness.

Children with life-threatening illnesses (LTIs) are hospitalized more often and spend more days in the hospital than children without LTIs. Hospitalizations may be associated with changes in health status of children with LTIs and thus alter their care needs significantly. Transitional care is particularly relevant for this population.

The natural history of a newly developed flexion contracture following primary total knee arthroplasty.

Purpose: We investigated the incidence, natural history, and functional consequences of a newly developed flexion contracture after total knee arthroplasty (TKA).

Methods: Forty patients with full knee extension preoperatively who developed a postoperative flexion contracture were match-paired 1:2 with 80 patients who had full extension. The incidence of a newly developed flexion contracture, ROM, and Knee Society scores (KSS) at six weeks, four months, and one year were analysed.

Giant coronary artery aneurysm in association with systemic arterial ectasia. A case report.

Since the advent of coronary angiography, coronary artery aneurysm has been diagnosed with increased frequency. The etiology of coronary artery aneurysm is atherosclerosis in 50%, followed by other causes. In a 71-year-old man with previously documented abdominal aortic aneurysm of 6 cm diameter and ectasia of both left and right middle cerebral arteries, thoracic magnetic resonance imaging (MRI) demonstrated a large hollow para-cardiac mass (maximum diameter of 7 cm) lying in the anterior-lateral part of the atrio-ventricular sulcus.

[Histogenic characterization of the cells forming RA pannus].

Objective: This work aims to clarify the histogenesis of the cells forming RA pannus: the pannocytes.

Methods: 15 patients with seropositive RA; 5 controls with post-traumatic knee effusion and 5 with OA knee effusion were included in the study. Synovial tissues and fluids, collected during diagnostic arthrocentesis, were used as a source of cells to be cultured.

Arthropathies and thyroid diseases.

Aim: Improvement of articular symptoms following thyroidectomy has often been observed in patients with an association of thyroid and joint diseases. An assessment has therefore been made of the types of arthropathy thus benefited and the anatomopathological features of the thyroid in patients with concomitant joint diseases. An account is given of the arthropathies associated with nontoxic nodular goitre (NTG).

[Pruritus. Physiopathology, clinical features, and treatment].

Pruritus is a subjective disturbance that accompanies many dermatological, allergic and internal medicine disorders. It may well be the only symptom that leads a patient to consult a doctor. In situations of this kind, the cause of the complaint is very hard to determine and the tests employed often fail to give a clear-cut answer.

Bronchial reactivity in subjects with urticaria.

Background: Respiratory symptoms (rhinitis, asthma) accompany some skin diseases with a proven immunological or allergic pathogenesis whereas the immunological and allergological findings are sometimes negative in subjects with chronic urticarial skin symptoms and no cause can be found. This paper explores the possibility of airway inflammation in cases of this kind.

Methods: Nonspecific bronchostimulation with methacholine was carried out in 12 subjects with a clinical history of urticaria and negative immunological and allergological findings.

Measurement of specific IgEs in the diagnosis of drug allergy.

Background: The anamnesis and, in certain cases, skin tests are indispensable methods for the correct diagnosis of allergy to drugs. However, in some cases, these two techniques alone, prove insufficient in achieving reliable predictive elements for drug allergies. Besides, the use of skin testing is often discouraged, due to the potential risks involved.

[Muscle fatigue and dyspnea].

Calm breathing requires little effort on the part of the inspiratory muscles to overcome the elastic and non-elastic resistances of the chest-lung system. Spontaneous expiration is passive and does not engage the respiratory muscles. In the event of restriction or obstruction, however, there are changes in these two types of resistance and their distribution.

[Transient immunosuppression after abdominal surgical intervention].

Transient immunodepression appears a few hours after surgery and usually regresses spontaneously within 15-20 days. In this study, cellular and humoral immunity parameter values were compared prior to and 24 h, 7 days and 14 days after laparotomic and laparoscopic cholecystectomy (12 patients and 25 patients respectively) operated at the University of Turin's First Surgical Clinic, to look for differences in the immunological effects of these two types of surgery. The following parameters were determined: IgG, IgA, IgM, C3, C4, granulocytes (CD11c), lymphocytes, B lymphocytes (CD19, CD19-CD15), T lymphocytes (CD3), T helper cells (CD3-CD4), T suppressor cells (CD3-CD8), CD4/CD8 ratio, NK cells (CD16), monocytes (CD14, CD11c-CD14), IL-2 receptor expression (CD25), HLA-DR expression (total HLA-DR, HLA-CD3), total cytotoxic activity (CD57), T cell cytotoxic activity (CD8-CD57), and NK cell cytotoxic activity (CD16-CD57).

[Components of complement in patients with immediate hypersensitivity].

Background: This prospective study was undertaken to assess the differences between the levels of the main plasma components of complement in allergic subjects and in those with pseudoallergic clinical manifestations.

Methods: Plasma C3 and C4 were evaluated in a total of 256 subjects examined consecutively at the allergology outpatients clinic of the Internal Medicine Division B, University of Turin. Total IgE and C1-inhibitor levels were also determined in 128 and 44 subjects respectively.

[Immunologic aspects of allergic and non-allergic asthma].

Methods: The peripheral blood lymphocytes and lung function have been studied in 25 patients: 12 affected by atopic asthma and 13 affected by non atopic asthma.

Results: The results obtained indicate that peripheral blood CD3 and CD4 cell as well as HLA-DR marker are higher in the extrinsic asthma group.

Conclusions: These findings confirm that an active inflammatory process exists in the group of non-atopic and functionally more compromised patients.

Undefined CD4 lymphocytopenia without clinical complications. A report of two cases.

A form of idiopathic CD4 lymphocytopenia (ICL) has been recently described. Its diagnostic criteria have been defined by the Centers for Disease Control (CDC), Atlanta. Associations of ICL with hepatitis C infection have been reported, while some ICL patients have presented abnormalities partly similar to those observed in common variable immunodeficiency (CVI).

[CD4 lymphocytopenia in patients without significant clinical pathology].

There are different causes of CD4 lymphocytopenia: neoplastic pathology, immunosuppressive therapy or other iatrogenic forms. In addition to these causes, an important role is certainly played by HIV infection which, at the AIDS stage, constantly accompanies progressive CD4 lymphocytopenia, with or without affecting the other lymphocyte components. CD4 lymphocyte deficits not correlated to HIV infection are relatively rare and are not always accompanied by progressive clinical manifestations of immunodeficiency.

[Diagnosis of drug allergy. Role of specific IgE and IgG determination].

In the diagnosis of drug allergies, the anamnesis and, in some cases, prick tests are without doubt indispensable approaches but they are not always able to provide optimal prognostic levels. Moreover, prick tests are sometimes contraindicated owing to their potential danger. This study evaluated the diagnostic efficacy of a test in vitro--the assay of IgE- and IgG-specific (RAST)--for a group of 16 drugs in 88 patients referred for allergological consultancy after clinical manifestations attributable to the administration of a drug (30/88 cases) or more than one drug (58/88).