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Scottish author Irvine Welsh has crafted an internally cohesive cosmology, grounded in mapping a somewhat loosely defined “chemical generation” that helped spearhead a personal brand of anti-Thatcherite counterculture (with an especially heavy focus on the marginalized, disgruntled and boisterous youths of Edinburgh). Examining some of the writer’s most recent and lesser-known works, my essay will argue that a series of archaic mythical patterns, symbols and cosmological coordinates can be shown to guide a large number of the axioms that Welsh employs to refine his own vision of a modern, emergent mythos.

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Copyright of Pediatru.ro is the property of MEDICHUB MEDIA, S.R.L. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

The article reviews the 26th volume of history periodical "Transylvanian Review" titled "Echoes from the Troubled Past."

In this article, the authors present the important steps for the diagnosis of neurologic diseases in children. Simptoms and algorhitmic approach are discussed regarding for age and frequency of the neurological disturbances. The main features are reviewed in the following situations: neonatal neurologic distress and seizures, hypotonia, epileptic seizures and epileptic syndromes, cerebral palsy, abnormal gait, coma, mental retardation, abnormal behavior and communication, cranial nerve palsy, orthopedic abnormalities of neurologic etiology. [ABSTRACT FROM AUTHOR]

Genetic defects of neurotransmitter and related disorders are beginning to be recognized, These disorders cause severe metabolic encephalopathy either before birth, or within the first days of life. In this review are presented: • Disorders of glycine and serine metabolism • Disorders of pteines and other biogenic amines metabolism • Disorders of gamma aminobutyrate metabolism • Other related neurometabolic disorders. [ABSTRACT FROM AUTHOR]

Gastrointestinal manifestations of metabolic disorders include vomiting, diffuse abdominal pain, pancreatitis, slowed transit time and constipation, maldigestion and malabsorbtion (which may result in diarrhea), and ascites. These symptoms may occur as part of systemic disorder of intermediary metabolism in which other symptoms predominate, or they may be the major or exclusive symptoms. Vomiting is typical of the organic acidurias and hyperammonemic syndromes. Pain and constipation occur in the porphyrias and familial fevers. Pancreatitis occurs with many organic acidurias, lipid and fatty acid disorders, and defects of oxidative phosphorylation. Malabsorbtion and diarrhea can be due to disorders of digestive enzymes, especially disaccharidases, defects of carrier proteins, and mitochondrial dysfunction. Ascites occurs in many lysosomal disorders. [ABSTRACT FROM AUTHOR]

Headaches are relatively common in childhood. Undue irritability in young children may be an indication of recurrent or persistent headaches. Older children may have headaches which are related to increased intracranial pressure from any cause, migraine, tension, trauma, and systemic disease. These painful episodes may precede, follow or be the only manifestation of convulsions. [ABSTRACT FROM AUTHOR]

Lysosomal storage disorders comprise a group of over 40 different diseases that are caused by genetic defects of lysosomal enzymes, resulting in the accumulation of incompletely digested substrates within the lysosome, and, consequently, in the increasing impairement of cellular function. As cells become filled with storage material, the whole organ may enlarge. Although different predominances of involvement are characteristic for individual disorders, the three systems primarily affected are the connective tissue, nervous tissue and parenchymatous organs. However, the idea that all lysosomal storage disorders generally cause visceromegaly and characteristic skeletal changes is a misconception. A substantial number affect predominantly, or even exclusively, the central nervous system, causing chronic progressive neurologic and psychiatric dysfunction. Inheritance is autosomal recessive with the exception of mucopolysaccharidosis type II/( Hunter disease) and Fabry disease, a sphingolipidosis in which the affected genes are located on the X-chromosome. [ABSTRACT FROM AUTHOR]

Peroxisomes are indispensable for the synthesis of bile acids, cholesterol and lipids, including plasmalogens and other phospholipids that are present in highest concentrations in the brain, heart and muscle. Impairments of these biosynthetic pathways result in progressive multisystem disease. Peroxisomes are also critical for the oxidation of very-long-chain fatty acids and related substances, such as phytanic acid. In addition, peroxisomes accommodate many oxygen-dependent reactions and peroxisomal catalase protects against H2O2. Peroxisomal disorders can be subclassified as follows: A. Disorders of peroxisom biogenesis and peroxisomal  -oxidation (elevations of very-long-chain faty acids) B. Single peroxisomal disorders with variant phenotypes. C. Defects of plasmalogen synthesis However, this widely used classification is not optimal for a clinical and diagnostic approach to peroxisomal disorders. Symptoms and disease courses in patients with generalized versus specific peroxisomal disorders are often indistinguishable and they may vary tremendously within the same group. Further on the authors present a modified grouping of peroxisomal disorders on the basis of the simple, comprehensive diagnostic approach outlined below. Clinical presentations, routine laboratory investigations and specialized investigations of peroxisomal disorders are discussed in the end. [ABSTRACT FROM AUTHOR]

Abnormalities in one or more components of the hematologic system are present in a variety of inborn errors of metabolism. In some they may serve as signals to alert the clinician to the presence of an undelzing metabolic disease. In others, such as the enzymopathies that produce hemolytic anemia, the abnormal hematologic is the disease. In some, as in hypersplenism of Gaucher disease, they represent an important complication that must be monitored and treated appropriately in a patient whose diagnosis had been made earlier on the basis of other manifestations. In this paper the authors presents the hematologic abnormalities in inborn errors of metabolism: - neutropenia, thrombocytopenia or pancytopenia in severe metabolic disorders (table 1); - megaloblastic anemia in some metabolic disorders (table 2); - hemolitic anemia in some metabolic or molecular disease (table 3); - vacuolated lymphocytes and abnormal storage cells in the bone marrow in lysosomal storage disease, including disorders of complex lipid catabolism and the mucopolysaccharidoses. [ABSTRACT FROM AUTHOR]

Described by Erik Adolf von Willebrand in 1926, it is a constitutional hemorrhagic disease, inherited in the autosomal mode. Considered initially as a thrombopathic disease, then as a prologation of the bleeding time associated to a deficit in the factor VIII, today it is defined as an absence, diminuation or a modification of the von Willebrand factor, a glycoprotein sintetized by the endotheklial cell and the megariocyte. The incidence of the disease is around 2%, being the first constitutionally hemorrhagic deficit, in front of the hemophilias. In this article we present: phisiopathologic mechanisms of the disease, clinical signs, biologic diagnosis, classification of von Willebrand disease, the differential diagnosis and treatment. [ABSTRACT FROM AUTHOR]

Thrombosis is a rare situation in pediatric practice. That makes it impossible to have homogenous series and therefore treatment regimens are difficult to be well defined. In this article the authors present: - neonatal thrombosis (arterial and venous), thrombosis in infants and older children; - treatment regimens (indications regarding the etiology) in neonates, infants, children; - thrombolitic treatment (dosage, duration of treatment, precautions and biologic follow-up); - conclusions. [ABSTRACT FROM AUTHOR]

An anomaly of Central Nervous System (CNS) can occur as an isolated defect or as a part of a syndrome. This syndrome can be the result of single genes, a chromosome aberration, or environmentally induced conditions (Bergsna D, 1979; Smith DW, 1982). The authors present: - Anomalies of the head: microcephaly; macrocephaly; hydrocephaly; - Central Nervous System (CNS) closure defects (Open neural tube defects); Spinal dysraphism; spina bifida occulta; - Epilepsy; - Huntington's disease; - Alzheimer disease; - Cerebellar ataxias. [ABSTRACT FROM AUTHOR]

This article presents advances in the field of fetal echocardigraphy and the significant impact of these within the fields of pediatric cardiology, perinatology and neonatology. A prenatal diagnosis of congenital heart disease allows improved counseling of the parents, guides the timing and optimal location of delivery, and allows appropriate planning and consultation between the cardiologist and neonatologist. It also facilitates accurate diagnosis and management of fetal arrhytmias, identifies potential candidates for in utero cardiac intervention and serves as the imaging guidance technique for these procedures. The goals, indications, advantages, limitations and spectrum of congenital heart disease that can be diagnosed are reviewed. [ABSTRACT FROM AUTHOR]

Another reproductive option that is now available is prenatal diagnosis. By utilizing increasingly sophisticated technology, many congenital malformations and genetic defects can now be diagnosed prior to twenty weeks of pregnancy. The authors present: 1. Couples at risk. 2. Techniques used for prenatal diagnosis: X-rays, amniography, fetoscopy, echography, amniocentesis, chorionic willi sampling (CVS). 3. Conditions amenable to prenatal diagnosis (chromosome abnormalities, CNS closure defects, metabolic diseases, X-linked recessive diseases, hemoglobinopathies, miscelaneous). 4. Prerequisites for prenatal diagnosis. 5. Reaction of couple to prenatal diagnosis. [ABSTRACT FROM AUTHOR]

The authors present: 1. What patients ought to be transferred in an intensive care unit 2. Parenteral feeding 3. Daily needs (per weight and in 24 hours) 4. Treatment of cerebral edema 5. General principles of hypothermia treatment 6. Prescribing dangerous drugs in an infant 7. Diet of an infant with acute renal failure 8. Osmotic diuresis 9. Ventilation 10. External cardiac massage 11. Cardiac puncture 12. Measuring the cardio-thoracic proportion 13. Endovenous perfusisons 14. Antibiotics used in neonates. [ABSTRACT FROM AUTHOR]

Rett syndrome, a neurodegenerative disorder, occurs almost exclusively in female children and has an incidence of 1/15.000. Development proceeds normally until 1 year of age when regression of language and motor milestones and acquired microcephaly become apparent. An ataxic gait or fine tremor of hand movements is an early neurologic finding. Most children develop peculiar sighing respirations with intermittent periods of apnea that may be associated with cyanosis. The hallmark of Rett syndrome is repetitive hand-wringing movements and a loss of purposeful and spontaneous use of the hands which may not appear until 2-3 years of age. Autistic behavior is a typical findings in all patients. Generalized tonic-clonic convulsions occur in the majority and are usually well controlled by anticonvulsivants. Feeding disorders and poor weight gain are common. Several studies have shown elevated CSF levels of endorphins in Rett syndrome. Trials of opiate receptorblocking agents (e.g., naltrexone) have improved the apnea and behavior abnormalities in some patients. After the initial period of neurologic regression, the disease process appears to plateau, with a persistence of the autistic behavior. [ABSTRACT FROM AUTHOR]

After presenting the main characteristics of tics, the authors are evaluating the etiopatogeny, considering their psychogenic or somatogenic nature. Tics may not be considered exclusively nevrotic and for each case we must establish how much of the clinical signs can be determined by the psychogenic factors. Finally the authors are discussing about preventing and treatment of tics. [ABSTRACT FROM AUTHOR]

In this article the authors present: - what are IEMs? - what are the different types of IEMs? - what is the relative frequency of these IEMs? - what is the inheritance pattern of these IEMs? - how can these IEMs be diagnosed in a timely manner? - what is the role of newborn screening (NS) programe in early diagnosis and prevention of morbidity and mortality? - what are the treatment and management options for these IEMs? - what is the long-term prognosis for patients with IEMs? [ABSTRACT FROM AUTHOR]

The authors present the case of a 1 year and 7 months old girl, with no medical history, initially diagnosed with left preauricular adenopathy, which increased in volume progressively, despite 12 days of antibiotic therapy. This report presents the causes of laterocervical adenopathy and the main tumor etiologies with preauricular and parotid localization. The clinical case presented a challenge in clarifying the final diagnosis – high-risk embryonal rhabdomyosarcoma. [ABSTRACT FROM AUTHOR]

Routine screening of newborn infants for metabolic disorders was introduced in 1961 after Bickel established an effective dietary therapy for phenyketonuria (PKU) and Guthrie developed a bacterial inhibition assay to detect elevated concentrations of phenylalanine in dried blood tests. Over time, neonatal screening has been expanded to several other treatable metabolic and endocrine disorders, including galactosemia, biotinidase deficiency, congenital hypothiroidism, congenital adrenal hyperplasia. A major step in recent years has been the development of routine acylcarnitine and aminoacid analysis in Guthrie cards by tandem mass spectroscopy. Researchers at Duke University developed tandem mass spectroscopy of acylcarnitines and aminoacids for expanded newborn screening in the early 1990's. It allows for screening aminoacidopathies, including PKU, organic acidurias and disorders of fatty acids oxidation. A positive result often constitutes a metabolic emergency as infants with many of the disorders diagnosed by the technique can become critically ill in the first days after birth. [ABSTRACT FROM AUTHOR]

Introduction. SARS-CoV-2 infection has put humanity to the test since December 2019, quickly becoming a global public health problem. There is a significant difference between the pediatric population versus the adult population in terms of infection rate, modes of transmission, clinical manifestations. The study aimed to identify some patterns of clinical presentation of SARS-CoV-2 infection in the pediatric population in “Dr. Victor Gomoiu“ Children’s Clinical Hospital in 2020, also following any possible variations between the first two waves of the pandemic. Materials and methods. The study was based on the descriptive observational analysis of two groups of SARS-CoV-2 positive patients, corresponding to the two pandemic waves. Patients were classified into some clinical patterns, using the definition of suspected / confirmed case established by the National Institute of Public Health (INSP) and transmitted through the National Center for Surveillance and Control of Communicable Diseases (CNSCBT), as well as the recommendations of the international guidelines and protocols. Results. There are found to be present some mild clinical forms of the disease secondary to SARS-CoV-2 virus infection, most children showing digestive symptoms. Starting with August (Group 2) there is a significant increase in the number of cases, as well as the appearance of a larger number of cases that associated respiratory symptoms. Conclusions. The study is showing the low impact of the SARS-CoV-2 virus infection in the pediatric population, compared to adults, especially in the first wave of the pandemic, the children having been considered “the hidden victims” of the pandemic, rather than its face. It is considered necessary the long-term monitoring of SARS-CoV-2 infected children, as the remote consciousness of the infection having been incompletely elucidated. Analyzing the epidemiological data obtained in the study, we are concluding the need for some sustained global efforts to define, more clearly, the variations in the patterns of the presentation of SARS-CoV-2 infection in children, in the context of the evolution of the pandemic. [ABSTRACT FROM AUTHOR]

The authors report the case of a 2 year 9 month old girl with neurodevelopmental delay and dysmorphic facial features: microcephaly, high and arched forehead, proeminence of the metopic suture, enophtalmya, micrognatia, big and malformed ears with low insertion. Classic Cytogenetic analysis with G banding revealed the following chromosomial formula: 46, XX de r(15)(9p ter ® 9p 11::15p 12 ® 15q ter), meaning that some additional material that correspond to the short arm of chromosome 9 is translocated to the 15 chromosome. The FISH test confirmed the presence of triplication in this patient. Normal karyotype was present in parents and sibling. [ABSTRACT FROM AUTHOR]

Objective: Vitamin D has pleiotropic actions, including a role in the development of the immune response. A link was suggested between vitamin D deficiency and the development of asthma in children. The aim of the present study was to investigate the role of serum 25(OH) vitamin D level as a predictor of recurrent wheezing and asthma exacerbations in children. Material and method: We investigated the parameters of 52 children aged 0.8 to 16.3 years, diagnosed with recurrent wheezing or asthma who were admitted to a children's hospital during a 24 months period either for recurrence or during clinically stable state. Results: Of the investigated parameters, eosinophil count and eosinophil/lymphocyte ratio were significantly associated (p<0.05) with serum 25(OH)D levels. Clinical state (stable/recurrence) was suggestively associated (p≤0.1) with several individual parameters: serum 25(OH) D level, age, neutrophil and eosinophil counts and their ratios (eosinophil/neutrophil and neutrophil/lymphocyte ratio). However, in binomial regression analysis serum 25(OH) D level was the only significant (p<0.05) independent predictor of the clinical state. Conclusion: Serum vitamin D level was found to be related to clinical state (stable/ recurrence) in children with recurrent wheezing or asthma. [ABSTRACT FROM AUTHOR]

Presence of atopy is an essential element in the classification of childhood persistent wheezing. An association with specific periods of childhood has been described for wheezing phenotypes; however, differences in the prevalence of childhood wheezing phenotypes exist between differently developed regions of the world. We studied the relationship of blood immune parameters and wheezing phenotype with age in 44 Romanian children with recurrent wheezing or asthma admitted during a 24 months interval in a children's hospital either for investigations during stable respiratory state or for treatment during recurrence. White blood cells count and neutrophil count showed an increase in the first 3 years of age, followed by slight decrease after wards, while eosinophil count showed a continuous increase in the first decade of life in the studied group. The wheezing phenotype showed a similar age dependence: non-atopic wheezing was manifest during preschool years, while the atopic phenotype was detected at a higher age. The age dependence of blood immune parameters and wheezing phenotype in Romanian children with recurrent wheezing or asthma resemble those described for childhood persistent wheezing in developed regions of the world. [ABSTRACT FROM AUTHOR]

Objective: Vitamin D has pleiotropic actions, including a role in the development of the immune response. A link was suggested between vitamin D defi ciency and the development of asthma in children. The aim of the present study was to investigate the role of serum 25(OH) vitamin D level as a predictor of recurrent wheezing and asthma exacerbations in children. Material and method: We investigated the parameters of 52 children aged 0.8 to 16.3 years, diagnosed with recurrent wheezing or asthma who were admitted to a children's hospital during a 24 months period either for recurrence or during clinically stable state. Results: Of the investigated parameters, eosinophil count and eosinophil/lymphocyte ratio were signifi cantly associated (p<0.05) with serum 25(OH)D levels. Clinical state (stable/recurrence) was suggestively associated (p≤0.1) with several individual parameters: serum 25(OH) D level, age, neutrophil and eosinophil counts and their ratios (eosinophil/neutrophil and neutrophil/lymphocyte ratio). However, in binomial regression analysis serum 25(OH) D level was the only signifi cant (p<0.05) independent predictor of the clinical state. Conclusion: Serum vitamin D level was found to be related to clinical state (stable/ recurrence) in children with recurrent wheezing or asthma. [ABSTRACT FROM AUTHOR]

Presence of atopy is an essential element in the classification of childhood persistent wheezing. An association with specific periods of childhood has been described for wheezing phenotypes; however, differences in the prevalence of childhood wheezing phenotypes exist between differently developed regions of the world. We studied the relationship of blood immune parameters and wheezing phenotype with age in 44 Romanian children with recurrent wheezing or asthma admitted during a 24 months interval in a children's hospital either for investigations during stable respiratory state or for treatment during recurrence. White blood cells count and neutrophil count showed an increase in the first 3 years of age, followed by slight decrease after wards, while eosinophil count showed a continuous increase in the first decade of life in the studied group. The wheezing phenotype showed a similar age dependence: non-atopic wheezing was manifest during preschool years, while the atopic phenotype was detected at a higher age. The age dependence of blood immune parameters and wheezing phenotype in Romanian children with recurrent wheezing or asthma resemble those described for childhood persistent wheezing in developed regions of the world. [ABSTRACT FROM AUTHOR]