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Clinical Neuroscience

JUNE 10, 2004

[Questions of epileptogenesis and prevention in symptomatic epilepsies]

NIKL János

[Symptomatic epilepsies usually report themselves after a longer period of time after brain injury, after the so-called latent period. During this period progressive functional and structural changes occur which finally cause an increased excitatory condition. The process of epileptogenesis may be examined in animal models, such as in the kindling, status epilepticus, hypoxicischaemic models. Data gained from such sources support the hypothesis that the first injury results in a lower seizure threshold, but genetical and enviromental factors also contribute to the development of epilepsy and most probably further insults may be needed. The development of epilepsy can be traced back to several reasons. In spite of this, the latent period provides opportunity for the prevention of epilepsy or for the influence of epileptogenesis in such a manner that later treatment can become more succesful. Prevention should be an aim in clinical practice, as well. Medication used presently are more like to have anticonvulsive properties and their antiepileptogenic effect is questionable. Due to this fact, development of new drugs is necessary with new theoretical background. The most important influence on the incidence of epilepsy in recent years has been provided by the improvement in neonatal care. This highlights the fact that such optimal medical care should be provided in the acute period of brain injury which can terminate or lessen the risk of epilepsy.]

Hungarian Immunology

OCTOBER 10, 2005

[Transmission of antibodies from mother to offspring: evolutionary aspects]

BAINTNER Károly

[The earliest known form of transmission of antibody is the transport from the maternal circulation into the yolk during vitellogenesis (in birds and reptiles), followed by endodermal uptake and transport into the embryonal circulation. During the early mammalian evolution lacteal secretion and the development of the placenta opened new ways to feed the young. These changes also resulted in alterations in sites and mechanisms of transmission of immunoglobulins. In a few species (e.g. rabbit and rodents) the yolk-less yolk sac gained a new function, i.e. the absorption of uterine secretion. In most of the mammalian species the neonatal type Fc-receptor (FcRn) plays a key role in the transmission and confers IgG-selectivity on the process. In ungulates undigested colostral proteins, including antibodies, are absorbed non-selectively by the gut, mediated by sizable transport vacuoles. The limited postnatal transmission period (24 to 48 h) is compensated by the considerable length of the small intestine and the efficiency of absorption. In the human chorioallantoic placenta the two steps of transmission (maternal secretion and absorption by the offspring) were reduced to a single step. Absorption of IgG is often carried out in a proteolytic environment (yolk sac, gut lumen, intestinal vacuoles), and as a result, different mechanisms evolved for the protection of antibody.]

Clinical Neuroscience

DECEMBER 20, 2008

[Convulsions in neonatal period and infancy with rare etiology (neurogenetic disease)]

NAGY Andrea, SZEVER Zsuzsa, KORMOS Zsuzsa, SZÉKELY Emőke, TÓTH EDIT, SMIDÉLIUSZ Lajos, HORVÁTH Rita, KARCAGI Vera, SCHULER Ágnes, JÁVORSZKY Eszter

[Authors summerized the etiology of convulsions in neonatal period and infancy (hypoxy, intracranial hemorrhage, infections of central nervous system, metabolic background, chromosomal abnormalities, brain developmental abnormalities, benign neonatal convulsions, benign neonatal familial convulsions, drug withdrawal, inborn error of metabolism). They suggest screening examinations after convulsion, summerized the basic princpile of tandem examination and review a proposal at suspicion of inborn error of enzym defects (aminoacidemias, defects of fatty acid oxydation, organic acidemias). They present case history of two patients suffered in extraordinary inborn error of enzym defect (SCO2 gene mutation, propionic acidemia). Diagnosis originated in Heim Pál Hospital (settlement Madarász Hospital) with a Hungarian and international cooperation.]

Lege Artis Medicinae

FEBRUARY 21, 2004

[EYE DISORDERS ASSOCIATED WITH MUSCULOSKELETAL DISEASES]

VOGT Ferenc

[The diseases of connective tissue and musculoskeletal system frequently associated with typical eye disorders. These can either be mild, recovering fully after treatment or more serious with persisting symptoms and destructive changes resulting in permanent loss of sight Eye symptoms can occur in the following diseases: rheumatoid arthritis, juvenile chronic arthritis, neonatal onset multisystem disease, ankylosing spondylitis, seronegative spondarthrities, Reiter’s syndrome, Behçet’s syndrome, Lyme disease, systemic lupus erythematosus, scleroderma, polyarteritis nodosa, Wegener’s granulomatosis, giant cell arteritis, erythema nodosum, relapsing polychondritis, sarcoidosis, Marfan’s syndrome, osteogenesis imperfecta.]

Hungarian Immunology

MARCH 20, 2002

[Neonatal activation of interferon-γ in macrophages]

ERDŐS Melinda, MARÓDI László

[Each individual passes through developmental or transient immunodeficiency due to the immaturity of the immune system in early childhood, expecially in the neonatal period. Therefore, neonates contract infections by intracellular and extracellular microorganisms more easily than older children and adults, and develop more severe disease with a high mortality rate. A number of abnormalities in the neonate’s host defense systems have been described suggesting that the immune system at birth functionally differs from that in adults. Neonatal T and B cells show decreased reactivity to antigens and mitogens and have deficienct IgM-IgG isotype switching. Newborns have decreased functional capacities of the hemolytic complement system. Under the same in vitro and in vivo conditions neonatal granulocytes show functional deficiency earlier than adult cells. Effector mechanisms of the cell-mediated immunity involve activation of macrophages by T helper1 cytokines, particularly interferon- γ (IFN-γ). IFN-γ is the most important macrophage-activating cytokine in vivo. Neonatal T cells express lower levels of IFN-γ and macrophages are hyporesponsive to activation by this cytokine. This deficiency may be explained by decreased phosphorilation of STAT1 despite comparable expression of STAT1 protein in neonatal and adult macrophages.]

Hungarian Radiology

APRIL 20, 2004

[Opsismodysplasia A report of two cases]

AL Kaissi A, CHEHIDA FB, NESSIB N, GHACHEM MB, KOZLOWSKI K

[INTRODUCTION - Opsismodysplasia is a rare, severe, neonatal dwarfism usually associated with fatal outcome in the first few years of life. Up to, 2003 about 15 cases have been reported. CASE REPORT - We describe two brothers six and four years old with opsismodysplasia, who presented to the paediatric orthopaedic clinic with the diagnosis of short stature and genu varum deformity. CONCLUSION - Paediatric specialists should be aware, that in rare instances, with improving medical care, they may see children with severe bone dysplasias which usually do not reach age in which paediatric orthopaedic services are required.]

Lege Artis Medicinae

JANUARY 20, 2011

[Pain and opportunities for non-pharmacological pain management in intensive neonatological care]

ANDREK Andrea

[Neonatal intensive care and therapeutic process is accompanied with a range of painful interventions. Research data from the past decades revealed that repeated and/or prolonged pain has long-term consequences on the neurobiological development of the premature infant, which has led to an increased attention to the measurement and alleviation of pain. In addition to pharmacological pain relief, more and more alternative pain management methods of varying efficacy are appearing in the provision of care for premature infants. In this study, we introduce non-pharmacological pain treatment methods with proven efficiency that can be applied to complement the pharmacological pain management or as a therapy before any painful interventions in intensive neonatological care. These methods include heart sound and music therapy, nutritive and non-nutritive sucking, swaddling, touching and kangaroo care.]

Ca&Bone

NOVEMBER 20, 2004

[A de novo heterozygous R551K point mutation and an A986S polymorphism in a patient with neonatal severe primary hyperparathyroidism]

CSÁKVÁRY Violetta, TÓTH Miklós, PATÓCS Attila, VARGA Ibolya, OROSZLÁN György, RÁCZ Károly

[INTRODUCTION - Familial hypocalciuric hypercalcemia and neonatal severe primary hyperparathyroidism are caused by inactivating mutations of the calcium-sensing receptor (CaSR) gene. We report the case of a now 9.5 years old boy who presented with the clinical syndrome of neonatal severe hyperparathyroidism. PATIENT AND METHODS - At the age of 2 days the patient developed respiratory distress. Clinical studies revealed increased serum calcium (3.1 mmol/l), non-suppressed serum parathyroid hormone level (48.3 pg/ml) and severe undermineralization of bones, as well as periosteal calcification in the distal part of both femurs suggesting fractures during the intrauterine life. Parathyreoidectomy was not performed.At the age of 6 years normal mental and physical development, persisting hypercalcemia without clinical symptoms, normal skeletal morphology, absence of new bone fractures, and absence of renal stones or nephrocalcinosis were documented, and the patient has remained completely symptom-free until his present age of 9.5 years. Sequence analysis of the entire coding region (exons 2-7) of the CaSR gene in peripheral leukocyte DNA revealed a heterozygous mutation at codon 551 (AGG→AAG) predicting a change of arginine to lysine (R551K). In addition, a known heterozygous polymorphism at codon 986 (GCC→TCC) was found in the proband and in his father. CONCLUSION - Our patient seems to represent the fourth reported case of neonatal severe primary hyperparathyroidism with a heterozygous de novo mutation of the CaSR gene. In addition, this case provides new evidence that with time the disease of neonatal severe hyperparathyroidism may spontaneously turn into a symptomless, benign condition resembling familial hypocalciuric hypercalcemia.]

Ca&Bone

NOVEMBER 20, 2004

[The pathophysiological role of the cell surface calcium-sensing receptor New clinical entities and drugs, potential therapeutic targets]

TÓTH Miklós

[The extracellular calcium-sensing receptor (CaSR) was recognized and cloned a decade ago. It is a G-proteincoupled receptor that plays an essential role in the regulation of extracellular calcium homeostasis. Diseases known as familial hypocalciuric hypercalcemia, neonatal severe primary hyperparathyroidism and autosomal dominant hypocalcemia are the consequences of naturally occurring mutations of the CaSR. However, the spectrum of the CaSR diseases became more complex with the recognition of both hypo- and hypercalcemic states caused by anti-CaSR autoantibodies. Activating anti-CaSR autoantibodies have been implicated in the pathogenesis of isolated idiopathic hypoparathyroidism and of hypoparathyroidism associated with autoimmune polyglandular syndromes. Inactivating CaSR autoantibodies may cause fluctuating hypercalcemic disorder that resembles primary hyperparathyroidism. The CaSR recently became one of the most intensively investigated target of potential new drugs. Cinacalcet has been approved for the treatment of secondary hyperparathyroidism associated with chronic renal insufficiency and for the management of inoperable or metastatic parathyroid carcinoma.The CaSR may be one of the main molecular target of strontium ranelate, wich is a new antiosteoporotic compound.]