General movement assessment efficacy for assessment of nervous system integrity in children after hypoxic-ischemic encephalopathy in middle income countries.

BACKGROUND: Many infants who survive hypoxic-ischemic encephalopathy (HIE) face long-term complications like epilepsy, cerebral palsy, and developmental delays. Detecting and forecasting developmental issues in high-risk infants is critical. AIM: This study aims to assess the effectiveness of standardized General Movements Assessment (GMA) and Hammersmith Infant Neurological Examinations (HINE) in identifying nervous system damage and predicting neurological outcomes in infants with HIE. DESIGN: Prospective. SUBJECTS AND MEASURES: We examined full-term newborns with perinatal asphyxia, classifying them as Grade 2 HIE according to Sarnat and Sarnat. The study included 31 infants, with 14 (45.2 %) receiving therapeutic hypothermia (Group 1) and 17 (54.8 %) not (Group 2). We evaluated general movements during writhing and fidgety phases and conducted neurological assessments using the HINE. RESULTS: All infants exhibited cramped-synchronized - like movements, leading to cerebral palsy (CP) diagnosis. Three children in Group 1 and four in Group 2 lacked fidgety movements. During active movements, HINE and GMA showed high sensitivity and specificity, reaching 96 % and 100 % for all children. The ROC curve's area under the curve (AUC) was 0.978. CONCLUSION: Our study affirms HINE and GMA as effective tools for predicting CP in HIE-affected children. GMA exhibits higher sensitivity and specificity during fidgety movements. However, study limitations include a small sample size and data from a single medical institution, necessitating further research.

General movements assessment: A bibliometric analysis.

This bibliometric analysis provides an in-depth exploration of the scholarly landscape in the field of Prechtl General Movement Assessment (GMA) research, spanning the period from 1961 to 2023. It offers valuable insights into the evolutionary trajectory and global impact of GMA. The study employs a longitudinal approach, meticulously tracking trends in scholarly output, international collaborations, and authorship patterns. Notably, our findings reveal a significant increase in GMA-related publications, highlighting the growing prominence of this field. The dominance of Australia and Austria in scholarly contributions underscores their pivotal roles. International collaborations are prominent, with active participation from European nations and the Americas. However, it is essential to acknowledge certain limitations, including potential data source biases and a reliance on English-language publications. This analysis serves as a valuable resource for stakeholders in the field, emphasizing the need for ongoing evaluation and collaborative efforts to enhance GMA applications and further our understanding of its clinical implications.

Relation between Guillain-Barré syndrome and Covid-19: Case-Series.

Approximately two-thirds of the Guillain-Barré syndrome (GBS) cases are preceded by upper respiratory tract infection or enteritis. There has been previous documentation of a clear association between Covid-19 and GBS. Covid-19 can affect the nervous tissue either through direct damage or through triggering a host immune response with subsequent development of autoimmune diseases such as GBS. Covid-19 can affect the host`s immune system through the activation and interaction of the T-and B-lymphocytes with subsequent production of antibodies that cross-react with the gangliosides. Depending on the nature of the neuronal autoimmune destruction, the affected individual may have either a demyelinating or axonal subtype of GBS. These subtypes differ not only in symptoms but also in the likelihood of recovery. This report presents two cases of GBS that developed after the respiratory symptoms of Covid-19. Their neurological features indicated demyelination, axonal damage, irritation of spinal nerve roots, and impaired sensory and motor transmission with additional facial nerve palsy in the second-studied case. This case report highlights the relationship between GBS and Covid-19 infection.

Vitamin D and vitamin D receptor polymorphism in Asian adolescents with primary dysmenorrhea.

BACKGROUND: The expression of vitamin D receptor in the normal endometrium and ovaries supports the role of vitamin D in local immunity and inflammatory cytokines regulation. OBJECTIVE: This study aimed to detect the relation between serum 25(OH)D and primary dysmenorrhea in Asian Adolescents. METHODS: Two hundred and five (205) adolescents complaining of primary dysmenorrhea (study group) were compared in this prospective study to matched controls (210 controls) after informed consent following the Helsinki Declaration. After thorough evaluation, including a thorough history and pelvic ultrasound examination, blood samples were collected from the studied adolescents to measure serum 25(OH)D and for vitamin D receptor TaqI (rs731236) genotyping. The studied adolescents' data were analyzed using the Pearson's correlation to detect the relation between serum 25(OH)D and primary dysmenorrhea (primary outcome). The secondary outcome measures the odds of primary dysmenorrhea in Asian adolescents with vitamin D receptor TaqI (rs731236) polymorphism. RESULTS: The serum 25(OH)D was significantly lower in the studied-dysmenorrhea group compared to controls (16.17 ± 7.36 versus 17.65 ± 6.36 ng/ml, respectively), (P = 0.01). The correlation analysis showed a significant negative correlation between the serum 25(OH)D and visual analogue scale of dysmenorrhea (r = -0.9003, P < 0.0001). The studied-dysmenorrhea cases with vitamin D receptor T/t and t/t genotypes had significantly lower serum 25(OH)D (16.7 ± 8.05 and 14.4 ± 4.1 ng/ml, respectively) compared to controls (18.97 ± 6.7 and 21.4 ± 2.45 ng/ml, respectively), (P = 0.02 and 0.004, respectively). The VDR T/t and t/t polymorphisms significantly increase the odds of primary dysmenorrhea (OR 1367.2, P < 0.0001 and OR 106.2, P = 0.001, respectively). CONCLUSION: The serum 25(OH)D was significantly lower in the studied-dysmenorrhea group compared to controls. The studied-dysmenorrhea cases with VDR T/t and t/t TaqI genotypes had significantly lower serum 25(OH)D compared to controls. The VDR T/t and t/t polymorphisms significantly increase the odds of primary dysmenorrhea.

Duchenne Muscular Dystrophy in Kazakhstan: A Journey from Diagnosis to the Treatment, the Biases and Achievements.

BACKGROUND: Neuro-muscular disorders constitutes a group of rare but heterogeneous conditions. The onset of these diseases ranges widely from birth to elderly. Many of them are life threatening and progressive. Neuromuscular science is a very specialised medical field for which specific knowledge and expertise are necessary. Such an expertise is available only partially in Kazakhstan where underdiagnosis, misdiagnosis and mismanagement of patients with muscle diseases are commonplace. Hopefully, times are changing. With the implementation of international guidelines for the diagnosis and treatment of Duchenne Muscular Dystrophy (DMD), patients are now given better care including pharmacological interventions (including steroids in DMD), respiratory and nutritional support. OBJECTIVES: To report on clinical data and genetic variants in a nationwide cohort of DMD patients. To describe and analyse management strategies applied in Kazakhstan in these patients. METHODS: The medical records of 84 patients recruited by the national expert-consulting board based at the national multidisciplinary centre of reference in neuro-muscular disorders in Astana, Kazakhstan, have been ascertained for the study. The national expert committee meets monthly to decide over the prescription of disease-modifying therapies in paediatric neuromuscular disorders. Data on the age of disease onset, the age at genetic testing, spectrum of genetic variants, the stage of disease and the serum CK levels have been collected.ResultsThe mean age of 84 examined patients was 10 years. In Kazakhstan, the average age of disease manifestation was 3 years and 3 months. The vast majority of patients passed through genetic test due to the clinical manifestations. The average age of genetic confirmation was 7 years and 6 months. There were 58,33%of gross variations, of which 55,95%were deletions and 2,38%were duplications. Nonsense mutations were identified in 29,7%. CONCLUSION: The authors contend that strictly keeping the clinical guides in the diagnosis of DMD is essential, as the genetic variations may affect the stage and feasibility of novel therapies. The way of management of neuro-muscular diseases used in Kazakhstan is strictly recommended for implementation in developing countries.

Acute cerebrovascular events and inflammatory markers associated with COVID-19: An observational study.

The novel Coronavirus disease (COVID-19) is associated with an increased risk of cerebrovascular events. About 1,228 cases of severe COVID-19 were hospitalized in the West Kazakhstan Medical University Hospital, in Aktobe, Kazakhstan, 1.22% (N=15) of whom were clinically diagnosed with acute cerebrovascular events and were included in the current study. COVID-19 was diagnosed using a nasopharyngeal polymerase chain reaction (PCR) test, blood count, inflammatory markers, and chest computerized tomography. The diagnosis of acute cerebrovascular events was based on the clinical manifestation. The participants' data were reviewed to detect the prevalence of acute cerebrovascular events and the inflammatory markers associated with COVID-19 infection. The mean age of the participants was 66.9 years (±11.07), 53% (N=8) of them were male, while 47% (N=7) were female. Moreover, 13% (N=2) presented a history of cerebrovascular events, 87% (N=13) of the participants had hypertension, 47% (N=7) had coronary heart disease, 33% (N=5) had diabetes mellitus (DM), 13% (N=2) had cardiac arrhythmia, and 13% (N=2) had chronic obstructive pulmonary disease (COPD). The C-reactive protein was high in 100% (N=15) of participants, D-dimer in 87% (N=13) of them, and both the ferritin and interleukin-6 were high in 60% (N=9) of the participants. SARS-CoV-2 causes a systemic inflammatory response, and the presence of comorbidities increases the risk of acute cerebrovascular events in COVID-19-infected individuals. The elevated inflammatory markers in severely COVID-19-infected individuals support the inflammatory "cytokine storm" response theory.

The impact of primary dysmenorrhea on adolescents' activities and school attendance.

Primary dysmenorrhea is the most commonly encountered menstrual issue among adolescents, often leading to significant school absenteeism. This study aimed to detect the impact of primary dysmenorrhea on adolescents' activities and school attendance. We conducted a cross-sectional comparative study involving 180 adolescents aged 12 to 18 who experienced primary dysmenorrhea. A comprehensive trans-abdominal pelvic sonography was performed to rule out any underlying pelvic conditions. The severity of dysmenorrhea was evaluated using the visual analog scale (VAS), categorizing adolescents into groups with mild dysmenorrhea (VAS ≥1 to ≤3), moderate dysmenorrhea (VAS >3 to ≤7), and severe dysmenorrhea (VAS >7 to ≤10). Adolescents were surveyed to determine whether the severity of dysmenorrhea had an adverse effect on their physical and social activities as well as their school attendance. We used one-way ANOVA to compare the groups. There was a significant positive relation between the severity of dysmenorrhea and its negative impact on adolescents' physical activities (r=0.395; p<0.00001) and social activities (r=0.658; p<0.00001). Additionally, there was a significant positive relation between the severity of dysmenorrhea and its negative impact on adolescents' school attendance (r=0.416; p<0.00001). The odds of a negative impact on adolescents' physical and social activities and school attendance were significantly higher in adolescents experiencing moderate and severe dysmenorrhea than in adolescents with mild dysmenorrhea.

Selective screening for inborn errors of metabolism using tandem mass spectrometry in West Kazakhstan children: study protocol.

Data on the prevalence of most inborn errors of metabolism are still unavailable in Kazakhstan. The study aims to perform selective screening for hereditary metabolic diseases among patients aged from 1 day to 18 years in western Kazakhstan using the LC-MS/MS method, with establishing the reference values for the content of amino acids, acylcarnitines, and succinylacetone in blood samples of healthy children. Tasks: 1. To assess the burden of metabolic disorders detected by LC-MS/MS in western Kazakhstan by examination of children at clinical risk in pediatric clinics throughout the region; https://www.frontiersin.org/register?returnUrl=https://loop.frontiersin.org 2. To set the reference values of metabolites in the child population; 3. To analyze the age distribution, prevalence, and age of onset for each identified IEM, further comparing the obtained findings with those from previously published reports in other populations. METHODS: To set the reference values of 51 metabolites in the child population, 750 healthy children will be included. The selective screening will be performed among 1,500 patients aged 1 day to 18 years with suspected hereditary metabolic disorders. ANTICIPATED RESULTS: The results of selective screening will be interpreted by comparison with the reference values established. Diagnosis will be based on clinical signs, blood levels of amino acids, acylcarnitines, succinylacetone, and urine levels of organic acids and tests for gene mutations. An assessment of 37 inborn errors of metabolism frequencies in high-risk children will be performed. The research will further develop the national as selective as expanded newborn screening programs. The study was registered in clinicaltrials. gov (https://www. CLINICALTRIALS: gov/study/NCT05910151) on 16 June 2023.

The effects of vitamin D and calcium on primary dysmenorrhea: a systematic review.

Dysmenorrhea, affecting approximately 80% of adolescents, significantly impairs quality of life, disrupts sleep patterns, and induces mood changes. Furthermore, its economic impact is substantial, accounting for an estimated $200 billion in the United States and $4.2 million in Japan annually. This review aimed to identify the effects of vitamin D and calcium on primary dysmenorrhea. We conducted a comprehensive literature search across Web of Science, PubMed, Scopus, and Science Direct, focusing on studies published from 2010 to 2020. Keywords included 'primary dysmenorrhea', 'vitamin D', '25-OH vitamin D3', 'cholecalciferol', and 'calcium'. The quality assessment of the articles was done using the Consolidated Standards of Reporting Trials (CONSORT) and the Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) checklists, and the risk bias was assessed using the Cochrane assessment tool. Abnormal low Vit. D levels increased the severity of primary dysmenorrhea through increased prostaglandins and decreased calcium absorption. Vitamin D and calcium supplements could reduce the severity of primary dysmenorrhea and the need for analgesics. This systematic review found an inverse relation between the severity of dysmenorrhea and low serum Vit. D and calcium.. Vitamin D and calcium supplements could reduce the severity of primary dysmenorrhea and the need for analgesics.

Establishing prognostic significance of hypoxia predictors in patients with acute cerebral pathology.

OBJECTIVES: This research aims to study the prognostic role of serum S100 as a predictor of mortality in vascular and traumatic brain injuries. METHODS: This prospective cohort study involved 219 patients. In the blood serum, neuron-specific markers (S100, NSE) and glucose, acid-base state and gas composition of arterial blood were obtained at admission, on the 3rd, 5th and 7th days of patients' stay in the intensive care unit. RESULTS: The most significant risk factor for an unfavorable outcome is the marker S100 with a cut-off point of 0.2 mcg/l. The analysis results indicate a statistically significant direct relationship between S100 > 0.2 mcg/l and NSE ≥ 18.9 ng/ml compared to other variables, while the chance ratio (OR) is 11.9 (95%CI:3.2927-1.6693;). With blood sugar increase above 7.4 mmol/l, the OR is 3.82 (95% CI: 2.1289-0.5539;); with a Glasgow scale below 13 points, the OR is 3.69 (95% CI: 2.1316-0.4819;); with an increase in pCO2 < 43.5 mm Hg, the OR was 3.15 (95% CI: 1.8916- 0.4062;). The obtained model certainty measure according to pseudo R2 Nagelkerke criterion is 263.5, showing the excellent quality of the mathematical model's predictive ability. The developed prognostic model, including the dependent variable S100 and independent variables as predictors of a poor outcome of NSE, pCO2, GCS and Hb, reached a cut-off point of 84.51%, AUC - 0.88 with high levels of sensitivity and specificity: 91.89% and 64.14%, respectively. NOVELTY: This model can be used to predict the outcome in patients with acute cerebral pathology.