Biochemical characterization on muscle tissue of a novel biallelic mutation in an infant with progressive encephalopathy.

The gene encodes the mitochondrial protein aconitate hydratase, which is responsible for catalyzing the interconversion of citrate into isocitrate in the tricarboxylic acid (TCA) cycle. Mitochondrial aconitase is expressed ubiquitously, and deficiencies in TCA-cycle enzymes have been reported to cause various neurodegenerative diseases due to disruption of cellular energy metabolism and development of oxidative stress. We investigated a severe early infantile-onset neurometabolic syndrome due to a homozygous novel variant in exon 13 of the gene.

KETASER01 protocol: What went right and what went wrong.

Objective: To discuss the results of the KETASER01 trial and the reasons for its failure, particularly in view of future studies.

Methods: KETASER01 is a multicenter, randomized, controlled, open-label, sequentially designed, non-profit Italian study that aimed to assess the efficacy of ketamine compared with conventional anesthetics in the treatment of refractory convulsive status epilepticus (RCSE) in children.

Results: During the 5-year recruitment phase, a total of 76 RCSEs treated with third-line therapy were observed in five of the 10 participating Centers; only 10 individuals (five for each study arm; five females, mean age 6.

Recommendations for analgesia and sedation in critically ill children admitted to intensive care unit.

We aim to develop evidence-based recommendations for intensivists caring for children admitted to intensive care units and requiring analgesia and sedation. A panel of national paediatric intensivists expert in the field of analgesia and sedation and other specialists (a paediatrician, a neuropsychiatrist, a psychologist, a neurologist, a pharmacologist, an anaesthesiologist, two critical care nurses, a methodologist) started in 2018, a 2-year process. Three meetings and one electronic-based discussion were dedicated to the development of the recommendations (presentation of the project, selection of research questions, overview of text related to the research questions, discussion of recommendations).

Management and Nutrition of Neonates during the COVID-19 Pandemic: A Review of the Existing Guidelines and Recommendations.

Objective: We aimed at reviewing the currently available guidelines and scientific recommendations regarding the neonatal in-hospital management and feeding in the light of the coronavirus disease 2019 (COVID-19) pandemic.

Study Design: We systematically searched the guideline databases, Medline, Embase, and nationale/international neonatal societies websites as of June 19, 2020, for guidelines on neonatal management and feeding during the COVID-19 pandemic, at the same time assessing the methodological quality using the Appraisal of Guidelines for Research and Evaluation II tool.

Results: Eleven guidelines were included.

Intrahepatic Administration of Human Liver Stem Cells in Infants with Inherited Neonatal-Onset Hyperammonemia: A Phase I Study.

Previous studies have shown that human liver stem-like cells (HLSCs) may undergo differentiation in vitro into urea producing hepatocytes and in vivo may sustain liver function in models of experimentally induced acute liver injury. The aim of this study was to assess the safety of HLSCs intrahepatic administration in inherited neonatal-onset hyperammonemia. The study was approved by the Agenzia Italiana del Farmaco on favorable opinion of the Italian Institute of Health as an open-label, prospective, uncontrolled, monocentric Phase I study (HLSC 01-11, EudraCT-No.

Monitoring the effectiveness of hypothermia in perinatal asphyxia infants by urinary S100B levels.

Background Perinatal asphyxia is a major cause of mortality and morbidity in neonates: The aim of the present study was to investigate, by means of longitudinal assessment of urinary S100B, the effectiveness of hypothermia, in infants complicated by perinatal asphyxia and hypoxic-ischemic encephalopathy. Methods We performed a retrospective case-control study in 108 asphyxiated infants, admitted to nine tertiary departments for neonatal intensive care from January 2004 to July 2017, of whom 54 underwent hypothermia treatment and 54 did not. The concentrations of S100B protein in urine were measured using an immunoluminometric assay at first urination and 4, 8, 12, 16, 20, 24, 48, 72, 96, 108 and 120 h after birth.

Differential response to renal replacement therapy in neonatal-onset inborn errors of metabolism.

Severe urea cycle defects (UCD), organic acidemias (OA) and maple syrup urine disease (MSUD) are life-threatening disorders presenting in the first days of life. Renal replacement therapy (RRT) is an emergency option in affected newborns, mostly performed as ultima ratio. We report our 10-year experience using emergency RRT in newborns with UCD, OA and MSUD.

Efficacy of ketamine in refractory convulsive status epilepticus in children: a protocol for a sequential design, multicentre, randomised, controlled, open-label, non-profit trial (KETASER01).

Introduction: Status epilepticus (SE) is a life-threatening neurological emergency. SE lasting longer than 120 min and not responding to first-line and second-line antiepileptic drugs is defined as 'refractory' (RCSE) and requires intensive care unit treatment. There is currently neither evidence nor consensus to guide either the optimal choice of therapy or treatment goals for RCSE, which is generally treated with coma induction using conventional anaesthetics (high dose midazolam, thiopental and/or propofol).

Neurological abnormalities in full-term asphyxiated newborns and salivary S100B testing: the "Cooperative Multitask against Brain Injury of Neonates" (CoMBINe) international study.

Background: Perinatal asphyxia (PA) is a leading cause of mortality and morbidity in newborns: its prognosis depends both on the severity of the asphyxia and on the immediate resuscitation to restore oxygen supply and blood circulation. Therefore, we investigated whether measurement of S100B, a consolidated marker of brain injury, in salivary fluid of PA newborns may constitute a useful tool for the early detection of asphyxia-related brain injury.

Methods: We conducted a cross-sectional study in 292 full-term newborns admitted to our NICUs, of whom 48 suffered PA and 244 healthy controls admitted at our NICUs.

Lidocaine treatment in refractory status epilepticus resulting from febrile infection-related epilepsy syndrome: a case report and follow-up.

We report the management of refractory status epilepticus (SE) by using continuous intravenous infusions of lidocaine in a previously healthy 15-year-old girl with a "catastrophic encephalopathy" in whom a diagnosis of febrile infection-related epilepsy syndrome was supposed. One week after a banal pharyngitis and fever, the patient presented confusion and intractable clusters of seizures. Although she underwent multiple examinations investigating all possible etiologies (intracranial infection, autoimmune disease, or toxic and metabolic illness), all results were negative except a feeble positivity to Mycoplasma pneumoniae serum antibodies.

Update of recommendations for Analgosedation in pediatric intensive care unit.

Effective and adequate therapy to control pain and stress are essential in managing children in Pediatric Intensive Care Unit (PICU) undergoing painful invasive procedures, this should be, but is not yet, one of our main aims. Aware that this difficult mission must be pursued in a systematic, multimodal and multitasking way, the Studying Group on Analgosedation in PICU from the Italian Society of Neonatal and Paediatric Anesthesia and Intensive Care (SARNePI) is providing its recommendations.

Surveillance study of healthcare-associated infections in a pediatric neurosurgery unit in Italy.

Background: This prospective surveillance study was designed to estimate the incidence of healthcare-associated infections (HAIs) and to analyze the risk factors for their development in a pediatric neurosurgical unit.

Methods: The study was performed in an Italian teaching hospital from October 2008 through March 2010. All children (0-18 years) undergoing neurosurgery were included and monitored daily for the development of HAIs.

Spinal versus peripheral effects of adjunct clonidine: comparison of the analgesic effect of a ropivacaine-clonidine mixture when administered as a caudal or ilioinguinal-iliohypogastric nerve blockade for inguinal surgery in children.

Background: The adjunctive use of clonidine to local anaesthetics has been reported to enhance analgesia both after spinal and peripheral administration. However, no attempt has been made to compare spinal and peripheral application of clonidine in the same surgical context in order to further explore the mechanism for the analgesic action of clonidine when administered together with local anaesthetics.

Methods: Using a prospective, randomized, observer-blinded study design, 40 patients, aged 1-7 years, who were undergoing elective surgery for inguinal hernia repair or orchidopexy, were randomly allocated to receive either a caudal block (group C: n = 20; ropivacaine 0.

Comparison of racemic bupivacaine, ropivacaine, and levo-bupivacaine for pediatric caudal anesthesia: effects on postoperative analgesia and motor block.

Background And Objectives: To compare ropivacaine, levo-bupivacaine, and racemic bupivacaine for caudal blockade in children.

Methods: Using a prospective observer blinded design, 60 sevoflurane anesthetized children (1 to 7 years) undergoing minor subumbilical surgery, were randomized to receive a caudal block (1 mL/kg) with either ropivacaine 0.2%, racemic bupivacaine 0.

Ropivacaine-clonidine combination for caudal blockade in children.

Background: Adding clonidine to weak ropivacaine solutions (<0.2%) could potentially enhance analgesia as well as further reduce the risk for unwanted motor blockade. The aim of the present study was to compare the postoperative pain-relieving quality of a ropivacaine 0.

Clonidine-mepivacaine mixture vs plain mepivacaine in paediatric surgery.

In a double-blind study, 42 children, aged 1-10, undergoing general subumbilical surgery, were randomly allocated to two groups; they received, via caudal extradural, 1% mepivacaine 7 mg.kg-1 and normal saline 1 ml (Group 1) and a mixture of 1% mepivacaine 7 mg.kg-1 plus clonidine 2 micrograms.

Evaluation of the ovarian cancer antigen, Ca-125, as a tumor marker.

The presence of the Ca-125 antigen was tested in the serum of 46 patients with ovarian cancer in order to determine the prognostic value of preoperative levels and its usefulness for monitoring the clinical response in longitudinal studies; survival (S) and progression-free survival (PFS) were also evaluated. In our series, the specificity of the assay in normal subjects and in patients with benign gynecological diseases is 99.3 and 73.

A randomized trial comparing cisplatin plus cyclophosphamide versus cisplatin, doxorubicin, and cyclophosphamide in advanced ovarian cancer.

After primary surgery, 125 patients with epithelial ovarian cancer (International Federation of Gynaecology and Obstetrics [FIGO] 1c + IIb + IIc = 22 patients, FIGO III = 82 patients, FIGO IV = 21 patients) were randomly allocated to receive PC (cisplatin 50 mg/m2 + cyclophosphamide 600 mg/m2 on day 1 every 28 days) (corrected) or PAC (PC + doxorubicin 45 mg/m2). After six cycles, patients clinically disease-free or with resectable residual disease were submitted to second-look surgery. After restaging, patients in surgical complete response (CR) stopped treatment while those responding partially (PR) received six more courses; patients whose disease progressed were excluded from the study.

High dose cisplatin after failure of polychemotherapy containing cisplatin in ovarian cancer. Preliminary results.

A substantial percentage of patients with advanced ovarian cancer will progress or relapse after platinum-based front therapies and will require salvage chemotherapy. In order to evaluate feasibility and effectiveness of high dose platinum (HD-CDDP) nine patients with ovarian cancer were treated with HD-CDDP while progressing after conventional doses of the same drug. Cisplatin 40 mg/M2 d.

Cisplatin, methotrexate, and 5-fluorouracil combination chemotherapy for advanced ovarian cancer.

A combination chemotherapy including cisplatin, 25 mg/m2 on Days 1,8; methotrexate, 30 mg/m2 on Day 1; and 5-fluorouracil, 600 mg/m2 on Day 1 has been evaluated in 28 previously untreated and 10 pretreated patients with advanced ovarian cancer after debulking surgery when feasible. The pathological response rates (complete + partial responses) were 69.2 and 50% in untreated and pretreated patients, respectively.

[Radioimmunoassay of SP1 in obstetrics and gynecological oncology].

The authors by means of radioimmunoassay analyze SP1 values in selected obstetric and oncological samples. Seven amniotic fluid samples showed various degrees of positivity, but not strictly correlated to the gestational age (previous analysis by immunodiffusion were always negative). SP1 concentrations in ectopic pregnancy confermed similar investigations by other authors.