Longitudinal changes in lung function following initiation of lumacaftor/ivacaftor combination.

Background: The combination of lumacaftor and ivacaftor (LUM/IVA) is a recently approved CFTR modulator treatment for homozygous F508del CF patients. Our study aimed at evaluating the change in the rate of lung function decline after one-year treatment with LUM/IVA.

Methods: The study evaluated patients homozygous for F508del, 12 to 23 years old.

Triple-Negative Breast Cancer: The Progress of Targeted Therapies and Future Tendencies.

Triple-negative breast cancer (TNBC) is characterized by a lack of expression of estrogen receptor (ER), progesterone receptor (PR) and human epidermal growth factor receptor 2 (HER2) and unfortunately is not associated with good prognosis. Treatment of breast cancer mainly depends on chemotherapy, due to the lack of specifically approved targeted therapies for TNBC. It is of paramount importance to find new therapeutic approaches, as resistance to chemotherapy frequently occurs.

Amikacin liposome inhalation suspension for chronic Pseudomonas aeruginosa infection in cystic fibrosis.

Background: Shortcomings of inhaled antibiotic treatments for Pseudomonas aeruginosa infection in patients with cystic fibrosis (CF) include poor drug penetration, inactivation by sputum, poor efficiency due to protective biofilm, and short residence in the lung.

Methods: Eligible patients with forced expiratory volume in 1 s (FEV) ≥25% of predicted value at screening and CF with chronic P. aeruginosa infection were randomly assigned to receive 3 treatment cycles (28 days on, 28 days off) of amikacin liposome inhalation suspension (ALIS, 590 mg QD) or tobramycin inhalation solution (TIS, 300 mg BID).

Development of a multidisciplinary clinic of neurofibromatosis type 1 and other neurocutaneous disorders in Greece. A 3-year experience.

Given the complexity of neurocutaneous syndromes, a multidisciplinary approach has been advocated in order to provide optimum care. Retrospective analysis of a cohort of 157 patients during a 3-year period, seen at a newly developed neurocutaneous clinic in a pediatric tertiary care hospital in Athens (Greece); and systematic chart review of the patients diagnosed with neurofibromatosis type 1 during this time period. The most frequent neurocutaneous syndromes were neurofibromatosis type 1 (NF1) in 89 patients and tuberous sclerosis complex in 17.

Association of vitamin D status with lung function measurements in children and adolescents with cystic fibrosis.

Background: Vitamin D status is considered a potential determinant of lung function in cystic fibrosis (CF). The aim of this retrospective longitudinal study was to investigate the decline of spirometric values in association with vitamin D status.

Methods: The data regarding 25-hydroxy vitamin D (25OHD) serum levels, spirometric measurements (FEV1, FVC, FEF25-75%), and factors known to be associated with the decline of lung function in CF were retrospectively collected over a 5-year period.

Screening and Risk Assessment of Coronary Artery Disease in Patients With Type 2 Diabetes: An Updated Review.

Current literature indicates that there is a strong correlation between coronary artery disease (CAD) and type 2 diabetes. The arteriosclerotic progression occurs earlier and in a greater extent in the diabetic than in the non-diabetic population. In diabetic subjects, the detection of arterial disease does not always precede the development of an acute arterial incident.

Quantitation of the arginine family amino acids in the blood of full-term infants perinatally in relation to their birth weight.

Background Arginine family amino acids (AFAAs) include glutamine (Gln) plus glutamate (Glu), ornithine (Orn), proline (Pro), citrulline (Cit) and arginine (Arg). We aimed to quantitate these amino acids in the blood of full-term infants in relation to their birth weight (BW) perinatally. Methods Breastfeeding full-term infants (n = 2000, 1000 males, 1000 females) with a BW of 2000-4000 g were divided into four equal groups: group A, 2000-2500 g; B, 2500-3000 g; C, 3000-3500 g and D, 3500-4000 g.

Passive range of motion changes in young children with spastic diplegia. A study during the initial stages of independent walking.

Purpose: To investigate how the onset of independent walking in children with Cerebral Palsy (CP) influences the Passive Range of Motion (PROM) of lower limb joints.

Method: Sixteen children with CP, GMFCS levels I and II, and 16 Typical Development (TD) children who had just begun independent walking participated in the study. The PROM of the hip abduction and external rotation, knee extension, popliteal angle, and ankle dorsiflexion was recorded with a goniometer at the onset of independent walking and 8 months later.

Intraparenchymal Pericatheter Cyst after Cerebrospinal Fluid Shunt: A Rare Complication with Challenging Diagnosis - Case Presentation and Review of the Literature.

An intraparenchymal pericatheter cyst is a rare complication of ventriculoperitoneal shunt, which is not well described yet. Due to its rarity, lack of characteristic symptoms and radiological features that often mimic brain tumors or abscesses, especially in head computed tomography without contrast can be easily misdiagnosed. We report the case of a 9-year-old girl who was admitted to a peripheral hospital due to severe headaches and vomiting.

Wilms tumour event-free and overall survival in Southern and Eastern Europe: Pooled analyses of clinical data from four childhood cancer registries (1999-2017).

Background: Wilms tumour (WT) management represents a success story in pediatric oncology. We aimed to assess, for the first time, the event-free survival (EFS) vs. overall survival (OS) in Southern and Eastern Europe (SEE) using harmonised clinical data collected by childhood cancer registries and to identify respective prognostic factors.

Enhanced Recovery After Surgery: Is It Time to Change Our Strategy Regarding Laparoscopic Colectomy?

Enhanced recovery after surgery or 'fast-track' methods are evidence-based protocols designed to standardize post-operative medical care, improve patient outcomes, promote early recovery, and reduce healthcare expenditure. Fast-track surgery is a multifunctional concept involving pre-, peri- and post-operative measures aiming to reduce the length of hospital stay and morbidity and complication rates, following elective abdominal surgery. Through the optimization of peri-operative care and the recovery process in adherence to these fast-track protocols, improved outcomes are reached, surgical trauma and post-operative stress are reduced, with less surgical pain, reduced complications, and shorter length of hospital stay.

The genetic etiology in cerebral palsy mimics: The results from a Greek tertiary care center.

Objective: Non-progressive genetic disorders may present with motor dysfunction resembling cerebral palsy (CP). Such patients are often characterized as CP mimics. The purpose of this work was to delineate the clinical manifestations and molecular findings of CP mimic patients, with the ultimate goal to offer specific disease-modifying therapy and genetic counseling.

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.

Aim: To explore the clinical presentation, course, treatment and impact of early treatment in patients with remethylation disorders from the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD) international web-based registry.

Results: This review comprises 238 patients (cobalamin C defect n = 161; methylenetetrahydrofolate reductase deficiency n = 50; cobalamin G defect n = 11; cobalamin E defect n = 10; cobalamin D defect n = 5; and cobalamin J defect n = 1) from 47 centres for whom the E-HOD registry includes, as a minimum, data on medical history and enrolment visit. The duration of observation was 127 patient years.

The phenylketonuria patient: A recent dietetic therapeutic approach.

Phenylalanine hydroxylase (PAH) deficiency, commonly named phenylketonuria (PKU) is a disorder of phenylalanine (Phe) metabolism inherited with an autosomal recessive trait. It is characterized by high blood and cerebral Phe levels, resulting in intellectual disabilities, seizures, etc. Early diagnosis and treatment of the patients prevent major neuro-cognitive deficits.

Risk stratification of high-risk metastatic neuroblastoma: A report from the HR-NBL-1/SIOPEN study.

Background: Risk stratification is crucial to treatment decision-making in neuroblastoma. This study aimed to explore factors present at diagnosis affecting outcome in patients aged ≥18 months with metastatic neuroblastoma and to develop a simple risk score for prognostication.

Procedure: Data were derived from the European high-risk neuroblastoma 1 (HR-NBL1)/International Society for Paediatric Oncology European Neuroblastoma (SIOPEN) trial with analysis restricted to patients aged ≥18 months with metastatic disease and treated prior to the introduction of immunotherapy.

Survival and mortality rates of Wilms tumour in Southern and Eastern European countries: Socioeconomic differentials compared with the United States of America.

Background: Despite recent therapeutic advancements, Wilms tumour (WT) presents remarkable survival variations. We explored mortality and survival patterns for children (0-14 years) with WT in 12 Southern and Eastern European (SEE) countries in comparison with the United States of America (USA).

Methods: A total of 3966 WT cases (0-14 years) were registered by a network of SEE childhood cancer registries (N:1723) during available registration periods circa 1990-2016 and surveillance, epidemiology, and end results program (SEER) (N:2243; 1990-2012); mortality data were provided by the respective national statistical services.

Expression of phosphatase and tensin homologue in imprint smears of endometrial carcinoma.

Objective: The aims of this study were to determine the expression of phosphatase and tensin homologue (PTEN) in endometrial adenocarcinomas (as a potential prognostic indicator before treatment) in imprint smears and to correlate the results with clinicopathological parameters of primary untreated endometrial cancer patients.

Methods: A total of 126 patients with endometrial carcinoma were evaluated with samples freshly resected after a total abdominal hysterectomy during a 29-month period. The expression of PTEN was assessed by immunocytochemistry.

The significant role of amino acids during pregnancy: nutritional support.

Pregnancy is characterized by a complexity of metabolic processes that may impact fetal development and infant health outcome. Normal fetal growth and development depend on a continuous supply of nutrients the placenta. The placenta transports, utilizes, produces, and interconverts amino acids (AAs).

Persisting inequalities in survival patterns of childhood neuroblastoma in Southern and Eastern Europe and the effect of socio-economic development compared with those of the US.

Aim: Neuroblastoma outcomes vary with disease characteristics, healthcare delivery and socio-economic indicators. We assessed survival patterns and prognostic factors for patients with neuroblastoma in 11 Southern and Eastern European (SEE) countries versus those in the US, including-for the first time-the Nationwide Registry for Childhood Hematological Malignancies and Solid Tumours (NARECHEM-ST)/Greece.

Methods: Overall survival (OS) was calculated in 13 collaborating SEE childhood cancer registries (1829 cases, ∼1990-2016) and Surveillance, Epidemiology, and End Results (SEER), US (3072 cases, 1990-2012); Kaplan-Meier curves were used along with multivariable Cox regression models assessing the effect of age, gender, primary tumour site, histology, Human Development Index (HDI) and place of residence (urban/rural) on survival.

Stress response to ovariohysterectomy in rabbits: role of anaesthesia and surgery.

The aim of this study was to evaluate the neuroendocrine and inflammation response to laparoscopic total ovariohysterectomy (TOH) in rabbits, by comparing surgical stress markers of laparoscopic group with those of conventional open ovariohysterectomy and open ovariohysterectomy with pre-incisional local anaesthesia groups. Blood was sampled from 18 rabbits, of which six underwent laparoscopic TOH, six conventional open TOH and six conventional open TOH with pre-incisional local anaesthesia, 30 min before induction of anaesthesia (T0), immediately after skin incision (T1), 90 min postoperatively (T2), and 24 h postoperatively (T3). Cortisol and C-reactive protein serum, and adrenocorticothrophic hormone, tumour necrosis factor-a (TNF-a), adrenaline, noradrenaline and IL-6 plasma concentrations were evaluated.