"Progressive myoclonic ataxia and developmental/epileptic encephalopathy associated with a novel homozygous mutation in TCN2 gene".

BACKGROUND: Transcobalamin II (TCN2) defect is a rare metabolic disorder associated with a range of neurological manifestations, including mild developmental delay, severe intellectual disability, ataxia, and, in some cases, seizures. Cobalamin, an essential nutrient, plays a crucial role in central nervous system myelination. CLINICAL PRESENTATION: We present a family with an index patient who exhibited progressive neurodevelopmental regression starting at 9 months of age, accompanied by myoclonic seizures, ataxia, and tremor. No significant hematological abnormalities were observed. Exome sequencing analysis identified a novel homozygous mutation, c.3G>A - P(Met1I), affecting the acceptor site of intron 4 of the TCN2 gene (chromosome 22: 31003321, NM_000355.4), leading to likely pathogenic variant potentially affecting translation. Following treatment with hydroxocobalamin, the patient demonstrated partial clinical improvement. He has a sibling with overt hematological abnormalities and subtle neurological abnormalities who is homozygous to the same mutation. Both parents are heterozygous for the same mutation. CONCLUSIONS: In infants presenting with unexplained non-specific neurological symptoms, irrespective of classical signs of vitamin B12 deficiency, evaluation for TCN2 defect should be considered. Early diagnosis and appropriate management can lead to favorable outcomes.

Assessing the risk of venous thromboembolism in patients with haematological cancers using three prediction models.

PURPOSE: Assessment of individual VTE risk in cancer patients prior to chemotherapy is critical for determining necessity of interventions. Risk assessment models (RAM) are available but have not been validated for haematological malignancy. We aimed to assess the validity of the Vienna Cancer and Thrombosis Study (V-CATS) score in prediction of VTE in a variety of haematological malignancies. METHODS: This is a prospective cohort study conducted on 81 newly diagnosed cancer patients undergoing chemotherapy. Demographic, clinical and cancer related data were collected, patients were followed up for 6 months, and VTE events were recorded. Khorana score (KS) was calculated. Plasma D-dimer and sP-selectin were measured, and then, V-CATS score was calculated. Receiver operator curve (ROC) was used to assess the sensitivity and specificity of RAMs. A modified V-CATS was generated and subsequently assessed by using new cut-off levels of d-dimer and sP-selectin based on ROC curve of the patients' results and compared the probability of VTE occurrence using all three RAMs. RESULTS: Among the 81 patients included in this study, a total of 2.7% were diagnosed with advanced metastatic cancer. The most frequent cancer was non-Hodgkin lymphoma (39.5%), and 8 patients (9.8%) developed VTE events. The calculated probability of VTE occurrence using KS, V-CATS and modified V-CATS scores at cut-off levels ≥ 3 was 87.5%, 87.5% and 100%, respectively. The AUC in ROC curve of modified Vienna CATS score showed significant difference when compared to that of V-CATS and KS (P = 0.047 and 0.029, respectively). CONCLUSION: The findings of our study highlight the value of three VTE risk assessment models in haematological malignancies. The modified V-CATS score demonstrated higher specificity compared to both V-CATS and KS, while all three scores exhibited similar sensitivity. We encourage the implementation of RAMs in haematological cancers for an appropriate use of thromboprophylaxis.

An Unusual Case of Headache in a Child: Idiopathic Intracranial Hypertension with Diagnostic Challenge.

Introduction: In children, idiopathic intracranial hypertension (IIH) is relatively uncommon. It is characterized by an increase in intracranial pressure, in the absence of evidence of underlying brain disease, structural abnormalities, hydrocephalus, or abnormal meningeal improvement. However, very rarely it can occur without papilledema, even though it is the most recognizable clinical sign. Due to this, a delay in diagnosis can lead to severe visual impairments. Case presentation: We describe a patient with a chronic headache but no papilledema. His neurological and systemic examinations were otherwise unremarkable. A lumbar puncture revealed a high opening pressure of 450 mmH2O and normal cerebrospinal fluid (CSF) parameters. Magnetic resonance imaging of the brain revealed only tortuous optic nerves, no parenchymal lesions, and no evidence of venous sinus thrombosis. He required acetazolamide treatment. Our patient's symptoms improved significantly in 2 months with medical treatment, weight loss, and exercise, with no development of papilledema. Conclusion: There is a wide range of clinical manifestations of IIH, making it difficult to decide when to begin treatment.

Vicissitudes in the Placental Cotyledon Number in a Singleton Pregnancy with Gestational Diabetes.

Background: Placenta is a transient organ during pregnancy, connects the fetus to the uterine wall. Pregnancy is frequently complicated by gestational diabetes, which might cause morphological changes in the placenta (weight, diameter, and cotyledons number); consequently, it may affect both fetus and mother. Aim: The aim of this study was to determine the difference in placental cotyledons number between pregnant with gestational diabetes versus without gestational diabetes, then correlate it with the weight and diameter between groups. Materials and Methods: A comparative study (gestational diabetes Group A and nongestational diabetes Group B) included mothers with a singleton baby delivered at term (37-40 weeks) after acceptance of the informed consent. Women with pregestational diabetes and other chronic diseases and those with intrauterine fetal death were excluded. Postdelivery placentae were accurately prepared and examined in detail. The placental weight, diameter, and cotyledons number were recorded and analyzed by SPSS version 21. The correlation was measured between the two groups in terms of cotyledons count, placental diameter, and weight. Results: The study included 385 participants (128 Group A and 257 Group B). Placental number of cotyledons, weight, and diameter in Group A were higher than in Group B, and the difference was significant (P = 0.000, P = 0.021, and P = 0.000, respectively). In Group A, there was a significant correlation between the placental weight, diameter, and number of its cotyledons (r = 0.23, P = 0.011). Cotyledon count was significantly affected by diabetic control (P = 0.021). Conclusions: Gestational diabetes increases placental cotyledons number, weight, and diameter.

Carbonated ground granulated blast furnace slag stabilising brown kaolin.

Proposals have been made by several researchers to conduct the sequestration of carbon dioxide (CO2) through calcium and magnesium-rich materials. From these materials, ground granulated blast furnace slag (GGBS) containing 5% magnesium and 45% calcium is seen to be a good candidate and is available to sequester CO2. This study intends to ascertain the ability to absorb CO2, sequester it, and increase treated kaolin strength with different content of GGBS under various carbonation periods with varying CO2 pressure. The impacts of carbonated GGBS on the mechanical attributes of soil were examined by conducting the unconfined compressive strength (UCS) test, and microstructure analysis was conducted to identify the changes in the structure and Crestline phase. Stationary carbonation in a triaxial test with pure CO2 was conducted to accelerate the carbonation process. The outcome indicates that the strength rises as the carbonation period rises. Likewise, UCS rises as the CO2 pressure rises from 100 to 200 kPa. It could be concluded that augmentation of the strength is because of carbonated calcium and magnesium products which stuff the soil voids. Changes occur on the microstructure level due to carbonation as well.

Infraclavicular arterio-arterial prosthetic loop is a safe and effective vascular access technique for haemodialysis in frail patients: a prospective observational study.

Vascular access failure causes significant morbidity among end stage renal failure patients. With the increased life expectancy and frailty of those patients, maintaining vascular access became a great challenge. In this study, we assess the short and midterm outcomes of infraclavicular arterio-arterial prosthetic loop (IAAPL) as vascular access for haemodialysis in frail patients who have exhausted conventional vascular access methods. A prospective observational study of 43 patients undergoing IAAPL was conducted in a single centre between May 2017 and March 2020. Primary, assisted primary and secondary patency rates were recorded in addition to complications and patient compliance with access. The achieved primary, assisted primary and secondary patency rates at 6 months are 87.5%, 95%, 97.5% respectively, at one year, corresponding rates were 75%, 83.3%, 94.4% and at 18 months they were 68.6%, 77.1%, 85.7% respectively. There was no procedure related mortality and life-threatening complications during the study period. So we can assume that infraclavicular AAPL is a safe and effective method of obtaining alternative vascular access for hemodialysis in frail patients for whom the conventional vascular access for hemodialysis is not suitable or contraindicated.

Self-Assembling Organogels Based on Pluronic and Lecithin for Sustained Release of Etodolac: In Vitro and In Vivo Correlation.

BACKGROUND: Etodolac, a member of non steroidal anti-inflammatory drugs (NSAIDs), has a poor aqueous solubility. Long term administration of etodolac causes severe gastrointestinal disturbances such as peptic ulcer and bleeding. These disturbances could be overcome by alternative routes such as a topical administration. METHOD: In the present study, pluronic lecithin organogels (PLOs) were prepared by simple mixing of pluronic solution with lecithin solution. Etodolac was loaded into the prepared gels or added during the gel formation. The physicochemical properties of the modified organogels were investigated by different analysis including visual inspection, pH determination, viscosity, spreadability and extrudability. Also, the in vitro release studies of etodolac in the presence of different penetration enhancers were carried out. The anti-inflammatory behavior of the prepared etodolac organogel was investigated using carrageenan induced paw edema test. RESULTS: The results indicated that the prepared organogels showed good physicochemical properties. The organogels, containing a combination of tween 80 and oleic acid as penetration enhancers, showed the highest percentage of drug release. CONCLUSION: All tested organogels showed a significant oedema inhibition compared with oral indomethacin ® and Voltaren® as a topical marketed anti-inflammatory drug. Moreover, the increase of drug concentration from 1% to 5% w/w is accompanied with a longer duration of action up to 12 hrs. Therefore, the formulated organogels are considered as a promising vehicle for controlled topical delivery of etodolac.