Limb-Girdle Type Congenital Myasthenic Syndrome Anticipated With Scoliosis: A Case Report.

Congenital myasthenic syndromes (CMS) comprise a group of inherited disorders that impair signal transduction as well as the structural integrity of the neuromuscular junction. Since there are several gene mutations associated with CMS, including the rare GFPT1 gene, the clinical presentation of this condition is quite variable. Importantly, patients with the same genotype can exhibit different clinical features.

MSMO1 deficiency: a potentially partially treatable, ultrarare neurodevelopmental disorder with psoriasiform dermatitis, alopecia and polydactyly.

MSMO1 deficiency (OMIM #616834) is an ultrarare autosomal recessive disorder of distal cholesterol metabolism with only five cases reported to date. The disorder is caused by missense variants in the MSMO1 gene encoding methylsterol monooxygenase 1, leading to the accumulation of methylsterols. Clinically, MSMO1 deficiency is characterized by growth and developmental delay, often in association with congenital cataracts, microcephaly, psoriasiform dermatitis and immune dysfunction.

Towards functional improvement of motor disorders associated with cerebral palsy.

Cerebral palsy is a lifelong neurodevelopmental condition arising from non-progressive disorders occurring in the fetal or infant brain. Cerebral palsy has long been categorised into discrete motor types based on the predominance of spasticity, dyskinesia, or ataxia. However, these motor disorders, muscle weakness, hypotonia, and impaired selective movements should also be discriminated across the range of presentations and along the lifespan.

Predictors of outcome among 31 children with infantile spasms syndrome.

Objective: Infantile spasms syndrome is a severe epileptic encephalopathy. Management of infantile spasms remains challenging because of pharmacoresistant forms and relapsing seizures. A high number of patients with this syndrome have neurodevelopmental delay.

Seizures and Outcome One Year After Neonatal and Childhood Cerebral Sinovenous Thrombosis.

Background: Pediatric cerebral sinovenous thrombosis is a treatable cause of brain injury, acute symptomatic seizures, and remote epilepsy. Our objective was to prospectively study epilepsy and outcomes in neonates and children one year after cerebral sinovenous thrombosis diagnosis.

Methods: Patients with cerebral sinovenous thrombosis were enrolled prospectively from 21 international sites through the Seizures in Pediatric Stroke Study.

High risk of subacute sclerosing panencephalitis following measles outbreaks in Georgia.

Objective: To describe cases and estimate subacute sclerosing panencephalitis (SSPE) risk following large-sale measles outbreaks in Georgia. A rare, fatal late complication of measles, SSPE is often overlooked in assessments focused on the acute illness. Georgia had 8377 and 11,495 reported measles cases during the 2004-2005 and 2013-2015 outbreaks, respectively, but SSPE burden has not been assessed.

CHARACTERISTICS OF WEST SYNDROME IN GEORGIA, PRELIMINARY RESULTS OF THE PROSPECTIVE STUDY.

West syndrome hasn't been thoroughly investigated in Georgia. The purposes of our study were a) to assess the clinical and etiological peculiarities of West syndrome, based on MRI data and its relation to the long-term outcome; b) to assess the evolution of West syndrome and its relation to patient characteristics; c) to compare the efficacies of treatments with ACTH and antiepileptic drugs (AEDs); d) to evaluate the neuropsychological outcome after 12 and 24 months and their early predictors. We evaluated 31 patients (17 male, 14 female) with infantile spasms.

Cognitive functions in children exposed to antiepileptic drugs in utero - Study in Georgia.

Objective: The cognitive teratogenicity of antiepileptic drugs (AEDs) has gained increasing attention in the last decade. The objective of the current study was to assess the effects of AED fetal exposure on the cognitive development of children of mothers with epilepsy from Georgia in a controlled study taking into consideration major confounding factors.

Methods: A prospective cohort group was formed from children and mothers registered in the Georgian National AED-Pregnancy Registry.

Short-term outcomes and major barriers in the management of convulsive status epilepticus in children: a study in Georgia.

Aim: Convulsive status epilepticus is the most common childhood neurological emergency in developing countries, where poor healthcare organisation could play a negative role in the management of the condition. Unavailability of second-line injectable anticonvulsants is an additional hindering factor in Georgia. This report reflects the results of the first study aimed at evaluating the epidemiological features of convulsive status epilepticus, as well as identifying obstacles influencing the management of patients with convulsive status epilepticus in Georgia.

Etiologic agents of central nervous system infections among febrile hospitalized patients in the country of Georgia.

Objectives: There is a large spectrum of viral, bacterial, fungal, and prion pathogens that cause central nervous system (CNS) infections. As such, identification of the etiological agent requires multiple laboratory tests and accurate diagnosis requires clinical and epidemiological information. This hospital-based study aimed to determine the main causes of acute meningitis and encephalitis and enhance laboratory capacity for CNS infection diagnosis.

Effect of treatment of convulsive status epilepticus on outcome in children.

Convulsive Status Epilepticus (CSE) is most common neurological emergency in childhood. Condition has been defined as a convulsion lasting at least 30 min or recurrent convulsions occurring over a 30-min period without recovery of consciousness. It is generally accepted that early intervention for terminating seizures is beneficial for outcome.

Etiology as a predictor of morbidity after convulsive status epilepticus in children.

CSE is the most common childhood neurological emergency in developed countries, which can lead to neuro cognitive sequel and death with different hazards and outcome. The majority of authors'agreed that etiology is the main determinant of morbidity, but different studies reported different etiology groups as predictors of the poor outcome. Present study was conducted to evaluate predictive value of etiology in post CSE morbidity.

Epidemiology of neurodevelopmental disorders in 2 years old Georgian children. Pilot study - population based prospective study in a randomly chosen sample.

Three hundred-forty-eight out of a regional population of 1272 newborn infants were randomly chosen and followed neurologically until age of two years to study the epidemiology of neurodevelopmental disorders, and to reveal the main factors influencing outcome. The most frequent neonatal pathologies were low Apgar scores - 45 (3.5%), neonatal sepsis - 28 (2.

[Comparative estimation of laser devices in complex treatment of oral cavity mucous membrane diseases].

The aim of the study was to compare laser devices "Optodan" and portative laser "Baure" in complex treatment of oral cavity mucous membrane diseases. We studied 90 patients: 54 female (60,0+/-0,77%) and 36 (30,0+/-0,7%) men from 18 to 45 years old. All patients had different forms of oral mucosal diseases: Stomatitis aphtosa chronica recidiva had 36 patients (28,9+/-0,9%); Erythema exudativum multiforme - 10 patients (6,7+/-1,5%), Candidosis angulitis - 26 patients (17,8+/-1,46%), Lichen ruber planus ulceroza - 4 patients (4,44+/-1,03%), Trauma mechanicum acutium - 12 patients (11,06+/-2,8%), Stomatitis herpetica - 28 patients (31,1+/-1,48%).

[Root canal treatment at pulpitis, periodontitis using ultrasound].

The aim of our research was the clinical estimation of ultrasound efficiency during root canal treatment at pulpitis, periodontitis. 446 root canals of 164 single and multi-rooted teeth were used for this study. Teeth were treated and monitored for 3 months, 6 months, 9 months, 1 year, 1,5 year, 2 year.

[Structural features of perinatal risk factors and their complications contributing to the development of psychomotor delay].

The incidence of perinatal problems in infants might be the one of the main reasons in delayed psychomotor development. The most predictive for future delay in psychomotor development are the pathology of pregnancy and delivery, an intra-uterine infection, incomplete pregnancy and the hypoxic--ischemic injury of the brain. Adequate conduct of the perinatal period, definition of existing or expected problems and preventive measures allows avoiding or reducing pathological conditions and possible future consequences.

Long-term neurological development of the preterm newborns.

Prematurity represents one of the risk factors of newborns' mortality, morbidity and derangements of long-term neurological development. With the increase of number of preterm newborns, problems with subsequent neurological development have also increased. Preterm population deserves great interest and a lot of investigations have been carried out in order to study their development dynamically.

[Assessment of psychomotor development in preschool and early preschool children, as a long term outcome of neonatal bacterial meningitis].

Disorder of the cognitive function and psychomotor retardation in the preschool and early preschool children is a result of neonatal bacterial meningitis in most cases. We have investigated 142 patients after neonatal bacterial meningitis and bacterial sepsis. We followed these children during 7 years (1998-2005).

[Early predictors of neurodevelopmental outcome of neonatal bacterial meningitis].

154 patients, who were hospitalized in M. Iashvili Children's central hospital in 1998-2005 were investigated. In 70 cases the diagnosis was neonatal bacterial meningitis, in 62 cases -- bacterial sepsis and neonatal meningitis and 22 cases patients were in control group with the diagnosis of neonatal bacterial sepsis.

[The effect of carnosine on the activity of Na,K,ATPase: prospective uses in clinical cardiology].

The effects of carnosine on erythrocyte membrane Na,K-ATPase and isolated enzyme in vitro as well as on membrane Na,K-ATPase activity and lipid peroxidation (LPO) in chronic heart failure (CHF) and acute myocardial infarction (AMI) have been studied. CHF and AMI have been shown to be associated with significant inhibition of the erythrocyte membrane Na,K-ATPase activity and LPO activation. Marked activation of erythrocyte membrane Na,K-ATPase by carnosine in comparison with the isolated enzyme has been established.

[A new immunogenetic marker of rheumatism].

Use of monoclonal D8/17 antiserum was studied for identification of B-cell antigen in 44 rheumatic fever patients. The control group comprised healthy subjects (30) and patients suffering from rheumatoid arthritis (30), ischemic heart disease (IO); chronic tonsillitis (12) and different neoplasma of the brain (10). The preliminary genetic analysis of these patients has shown that monoclonal antiserum D8/17 can identify B-cell marker in 88-100 per cent of rheumatic fever cases.

[Prostaglandins and the immunological indices of patients with chronic heart failure].

Some indices of T and B cellular immunity and content of PgE2 and PgF2 alpha in the peripheral blood plasma were studied in 70 patients with coronary heart disease and in 22 patients with rheumatic disease complicated by chronic cardiac failure. It was revealed that increase in PgE2 and PgF2 alpha levels was accompanied by changes in T cells subpopulations. It is suggested that Pg-s can mediate changes of immunoregulatory lymphocyte functions in chronic cardiac insufficiency.