Galactokinase deficiency: lessons from the GalNet registry.

Purpose: Galactokinase (GALK1) deficiency is a rare hereditary galactose metabolism disorder. Beyond cataract, the phenotypic spectrum is questionable. Data from affected patients included in the Galactosemias Network registry were collected to better characterize the phenotype.

Impact of cerebrospinal fluid syndromic testing in the management of children with suspected central nervous system infection.

The aim of the study was to evaluate the impact of the use of BioFire® FilmArray® meningitis/encephalitis(FA-ME) panel which enables rapid automated CSF testing for 14 common viral, bacterial, and yeast pathogens that cause CNS infections, in the management of children with suspected CNS infection. A prospective cohort study was performed on children admitted to a tertiary pediatric hospital, over a period of 1 year, with possible CNS infection and CSF pleocytosis (> 15 cells/mm). Children were randomized 1:1, either to use FA-ME or separate molecular CSF microbiological tests according to usual pediatric practice in the hospital.

Plasma levels of soluble urokinase plasminogen activator receptor (suPAR) and high-sensitivity C-reactive protein after Roux-en-Y gastric bypass or sleeve gastrectomy: a 1-year prospective observational study.

Purpose: Low-grade inflammation in obesity contributes to the development of cardiovascular disease, diabetes mellitus and cancer, and is associated with increased mortality. The purpose of this 1-year prospective observational study was to examine the weight loss effect of bariatric surgery on plasma concentrations of two inflammatory markers, namely high-sensitivity C-reactive protein (hsCRP) and soluble urokinase-type plasminogen activator receptor (suPAR), in patients with obesity.

Methods: Sixteen subjects without obesity and 32 patients with obesity class III, who had already settled upon Roux-en-Y gastric bypass (RYGB) or sleeve gastrectomy (SG) were included in the study.

Safety assessment of open appendectomies for complicated acute appendicitis in children: a comparison of trainees and specialists.

Purpose: The aim of this study was to compare the outcome of children with complicated acute appendicitis (CAA) who underwent open appendectomy (OA) performed either by trainees under the direct supervision of an SPS, or an SPS.

Methods: Two hundred thirty eight patients with CAA were reviewed operated on either by a junior trainee (JT) or a senior trainee (ST) under the direct supervision of an SPS or by an SPS. The outcome measures were the overall rate of complications, operative time (OT), length of hospital stay (LHS) and 30-day readmission rate.

Calcineurin inhibitors in nephrotic syndrome secondary to podocyte gene mutations: a systematic review.

Background: Calcineurin inhibitor (CNI) use in genetic steroid-resistant nephrotic syndrome (SRNS) is controversial as response rate is reported to be lower than non-genetic disease and no plausible mechanism of action is known.

Methods: We reviewed PubMed for publications on CNI use in hereditary SRNS to determine (1) CNI response rate; (2) impact of response on renal outcome; and (3) clinical and molecular predictors of response. Variant pathogenicity was assessed according to American College of Medical Genetics criteria and patients were assigned to 1 of 4 categories based on estimated genotype contribution to phenotype.

Identifying early abdominal obesity risk in adolescents by telemedicine: A cross-sectional study in Greece.

Obesity and thus, lipotoxicity, is a major health risk factor. Modern exposure to environmental chemicals has contributed significantly to the obesity epidemic. The purpose of this study was to assess, via telemedicine and using bioelectrical impedance analysis (BIA) in schools, the levels of adiposity and other body composition parameters of Greek adolescents in relation with their metabolic syndrome (MetS) characteristics.

Inter-Tissue and Intra-Tissue Co-Expression Networks in Human Metabolism: Morphological Evaluation of the Link Between Transcription Factors ERβ and NFAT in Morbid Obesity.

Background: Estrogen receptor β (ERβ) plays an important role in human metabolism and some of its metabolic actions are mediated by a positive "cross-talk" with Nuclear Factor of Activated T cells (NFAT) and the key metabolic transcriptional coregulator Transcriptional Intermediary Factor 2 (TIF2).

Introduction: Our study is an "in situ" morphological evaluation of the communication between ERβ, NFAT and TIF2 in morbid obesity. Potential correlations with clinicopathological parameters and with the presence of diabetes and non-alcoholic fatty liver disease (NAFLD) were also explored.

Immunotherapy in allergic diseases - improved understanding and innovation for enhanced effectiveness.

Allergen immunotherapy leads to tolerance through multiple mechanisms that include tolerogenic dendritic cells and T and B regulatory cells. These induced cellular populations produce mediators to skew the immune response to a tolerogenic milieu that, among others, results in IgG4 blocking antibodies formation and lowered FcE receptors. All lead in decreased effector responses from mast cells, eosinophils, and basophils thus limiting the allergic inflammation.

Frequency of moderate-to-severe obstructive sleep apnea syndrome among children with snoring and blood pressure in the hypertensive range.

Background: It is recommended that children with hypertension and loud snoring should be referred for polysomnography. We aimed to compare the frequency of moderate-to-severe obstructive sleep apnea syndrome (OSAS) among snorers with and without hypertension. Thus, it was hypothesized that systolic or diastolic hypertension among children with snoring is a risk factor for moderate-to-severe OSAS.

Myeloablative conditioning for allo-HSCT in pediatric ALL: FTBI or chemotherapy?-A multicenter EBMT-PDWP study.

Although most children with acute lymphoblastic leukemia (ALL) receive fractionated total body irradiation (FTBI) as myeloablative conditioning (MAC) for allogeneic hematopoietic stem cell transplantation (allo-HSCT), it is an important matter of debate if chemotherapy can effectively replace FTBI. To compare outcomes after FTBI versus chemotherapy-based conditioning (CC), we performed a retrospective EBMT registry study. Children aged 2-18 years after MAC for first allo-HSCT of bone marrow (BM) or peripheral blood stem cells (PBSC) from matched-related (MRD) or unrelated donors (UD) in first (CR1) or second remission (CR2) between 2000 and 2012 were included.

Effect of nasal irrigation on allergic rhinitis control in children; complementarity between CARAT and MASK outcomes.

Background: Nasal irrigations (NI) are increasingly used as an over-the-counter adjunctive treatment for allergic rhinitis (AR), but clinical studies on their effectiveness are limited.

Methods: An open-label, controlled, non-randomized, real-life study was conducted to evaluate the effectiveness of NI with a new hypertonic solution as add-on treatment for AR. Children and adolescents with AR were prescribed symptomatic treatment.

Time-Dependent Effects in Chronic Urticaria: A Time-Series Perspective of Omalizumab Treatment.

Background: Chronic spontaneous urticaria (CSU, or CU) is a disease that significantly affects the quality of life of patients. It is a chronic disease and requires a specialized approach to diagnosis and treatment. In recent years, the disease has been of great interest due to the existence of new targeted therapeutic approaches.

The role of HLA matching in unrelated donor hematopoietic stem cell transplantation for sickle cell disease in Europe.

We report the results of an analysis of unrelated allogeneic hematopoietic stem cell transplantations (HSCT) in 71 patients with sickle cell disease (SCD) transplanted in EBMT centers between 2005 and 2017. Median age was 9.3 years; graft type was bone marrow in 79% and peripheral blood in 21%.

A national educational campaign to raise awareness of child physical abuse among health care professionals.

Education is necessary to improve child physical abuse detection and management. A few studies have described national child abuse training programs, but none has measured changes in knowledge among participants. A collaboration of child abuse experts from the USA, an academic pediatric department, and a non-governmental organization in child protection aimed at (a) training hospital physicians in a train-the-trainer course for the detection and management of child physical abuse and (b) conducting workshops and measuring attendance and gain of knowledge of participants.

'Testis-epididymis dissociation' in cryptorchidism and hydrocele: the tip of the iceberg of a persistent genital mesentery.

Purpose: To investigate whether testis-epididymis dissociation encountered in boys with cryptorchidism/hydrocele is related with an abnormal persistence of the fetal mesentery of testis and associated ducts.

Methods: We examined the morphology of peritoneal folds of the testis, epididymis, and vas deferens in 25 boys operated for unilateral cryptorchidism [inguinal (n = 20), intrabdominal (n = 5)] and 20 boys operated for unilateral communicating hydrocele. Findings were compared with the normally persisting genital mesentery of rats (n = 30, both sides), a known animal model of the genital mesentery of human fetuses, as well as with the normal mature pattern of genital peritoneal folds in adult male cadavers (n = 12, both sides).

Nivolumab-related lichen planus of the lip in a patient with head and neck cancer.

Immune checkpoint inhibitors (ICIs) are among the most promising drugs in the field of immuno-oncology; they represent monoclonal antibodies that modulate the effects of immune checkpoints, such as Programmed Cell Death protein 1 (PD-1) which is a co-inhibitory signal responsible for immune suppression. Dermatologic immune-related toxicity is a common type of toxicity associated with these agents. However, oral skin reactions are rare.

The clinical outcome of the 'Surgilig' technique for the reconstruction of acromioclavicular dislocations: A systematic review.

Purpose: To investigate whether the 'Surgilig' technique is safe and effective for the treatment of patients suffering from acromioclavicular joint (ACJ) dislocations graded as Rockwood's type III or higher.

Methods: A systematic review was conducted according to Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) guidelines.

Results: The failure rate of the "Surgilig" implant was very low (3.

Omalizumab in the Treatment of Chronic Urticaria: The Effect of Drug Co-Administration and Co-Morbidities.

Background: Chronic Spontaneous Urticaria (CSU) is a disease presenting typical wheals characterized by itching, angioedema or both. Although CU is, by appearance, a relatively "simple" disease, yet it has a devastating effect on those suffering due to its immense social implications.

Aims: The aim of the present study was to investigate the effect of omalizumab in the treatment of CSU.

Gene Expression in Osteoblasts and Osteoclasts Under Microgravity Conditions: A Systematic Review.

Background: Microgravity (μG) negatively influences bone metabolism by affecting normal osteoblast and osteoclast function. μG effects on bone metabolism has been an extensive field of study in recent years, due to the challenges presented by space flight.

Methods: We systematically reviewed research data from genomic studies performed in real or simulat-ed μG, on osteoblast and osteoclast cells.

Serum Spexin is Correlated with Lipoprotein(a) and Androgens in Female Adolescents.

The gene is considered the most dysregulated in obese human fat. Limited data suggest that the novel peptide spexin may potentially impact food intake, weight regulation and body adiposity. The aim of this case-control study was to compare fasting serum spexin concentrations between normal weight (NW) and overweight/obese (OB/OW) adolescent females and explore the relationship between circulating spexin and anthropometric, bone and fat mass, metabolic and hormonal parameters.

Recurrent arterial ischemic strokes in a patient with patent foramen ovale and ductus arteriosus: Presentation of our management and review of the literature.

Ischemic stroke in children is a relatively rare entity, relative to the adult population. The most common potential risk factors include cardiac embolism, prothrombotic states and vasculopathies. The diagnosis is concerning for the need to identify the underlying cause.

Glucose metabolism disorders in patients with adrenal gland disorders: pathophysiology and management.

The aim of this review is to explore and discuss disorders of glucose metabolism that can arise in individuals with adrenal gland disorders, as well as to enumerate the available therapeutic treatments for these while considering their benefits and drawbacks. Hyperfunctioning adrenal glands, as in hypercortisolism, hyperaldosteronism, and malignancy, or hypofunctioning of adrenal glands, as in adrenal insufficiency, can lead to carbohydrate metabolism dysregulation with subsequent glucometabolic repercussions, either hyperglycemia or hypoglycemia. Glycemic disorders further affect patients' quality of life and represent a therapeutic dilemma for physicians.

Greek Validation of Emotional Eating Scale for Children and Adolescents.

Aim: In this study, we focused on the Greek validation of the Emotional Eating Scale for Children and Adolescents (EES-C).

Methods: Our sample consisted of 150 students in primary and secondary school settings from two different areas of Greece. Child Depression Inventory (CDI) and State and Trait Anxiety in Children (STAIC) were also used for validation purposes.

SRC-3/AIB-1 may Enhance Hepatic NFATC1 Transcription and Mediate Inflammation in a Tissue-Specific Manner in Morbid Obesity.

Background: Obesity is a global epidemic which is associated with several cardiometabolic comorbidities and is characterized by chronic, low grade systemic inflammation. Numerous biomarkers have been implicated in the pathophysiology of the disease, including transcription factors and coregulators. Steroid Receptor Coactivator (SRC)-family represent the master regulators of metabolic pathways and their dysregulation is strongly associated with numerous metabolic disorders.