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We describe the first individual treatment trial with D-mannose in a young girl with PIGV-CDG. PIGV-CDG belongs to the GPI anchor deficiencies leading to intellectual disability, dysmorphic features, epilepsy, and, less frequently, organ malformations. A hallmark of the GPI anchor deficiencies is the elevated serum alkaline phosphatase (AP). Our patient carried the germline homozygous PIGV variant c.1022C>A, p. (Ala341Glu), the most commonly reported pathogenic variant leading to PIGV-CDG so far. We aimed to improve the impaired enzymatic function of PIGV through elevated substrate levels by giving D-mannose orally. We monitored the clinical status, developmental progress as well as serum AP levels. Our patient experienced no side effects. Standardized developmental testing showed better developmental progress during the 21-month treatment period with D-mannose than in the 12 months following the discontinuation of treatment. The D-Mannose treatment might have had a positive effect on the development of our patient with PIGV-CDG.

Background: Apert syndrome is a type 1 acrocephalosyndactyly, a rare syndrome characterized by the presence of multiple craniosynostoses, dysmorphic facial manifestations, and syndactyly of hand and feet. It affects 1:100.00 of birth and is the second most common of syndromic craniosynostosis. Molecular genetic tests that identify the heterozygous pathogenic variant in FGFR2 genes - identical with Apert syndrome cost too high to be applicable in developing countries. Therefore, the diagnosis of Apert syndrome should be suspected from the clinical findings. Three cases from the Community of Indonesian Apert Warrior Group were collected. These series were based on medical and surgical records. We obtained the patient characteristics from the phenotypic manifestations only. Case report: We present a case of a newborn baby girl, with similar anatomical findings, such as skull shape abnormality, midface hypoplasia, intraoral disfigurement, and hands and feet deformities that resemble Apert Syndrome. Our series presents similar Apert syndrome characteristics, such as typical craniofacial dysmorphic with symmetrical syndactyly of both upper and lower extremities. These clinical findings are essential to establish an initial diagnosis of Apert Syndrome.

Background: Liver cancer is a global health concern, with overweight and obese individuals exhibiting an increased risk of its development. Understanding the interplay between obesity-related factors and liver cancer incidence is crucial for early prediction and intervention.Aim: The aim of this investigation was to construct and validate an extreme gradient boosting (XGBoost) based machine learning model for the purpose of establishing a one-year liver cancer risk prediction system specifically tailored to overweight and obese patients. In addition, this study sought to compare the predictive performance of the XGBoost model with those of a random forest model and a logistic regression model, while also identifying the most influential predictive features for liver cancer incidence.Methods: A comprehensive retrospective analysis was conducted on MIMIC III data comprising 2,354 patients. To predict the risk of liver cancer development, three machine learning models were developed: XGBoost, random forest, and logistic regression. Feature selection was executed using a stepwise regression procedure encompassing both forward selection and backward elimination.Results: The stepwise regression technique unveiled 14 predictive factors for liver cancer incidence. Among the patient cohort, 132 individuals developed liver cancer within a year of follow-up, while 2,222 did not. Notably, most liver cancer cases occurred in male patients (60%). Statistically significant differences were observed between patients with liver cancer and those without, in terms of age, gender, total bilirubin, platelet, albumin, chloride, potassium, sodium, prothrombin time (PT) and alanine aminotransferase (ALT). The XGBoost model exhibited an impressive area under the receiver operating characteristic curve (AUROC) of 99%, Random Forest (RF) of 99%, and Logistic Regression (LR) of 90%. In a multivariate analysis, total bilirubin, creatinine levels, age, gender, ALT, alkaline phosphate (ALP), PT, calcium, and chloride emerged as independent predictors for liver cancer incidence.Conclusion: The XGBoost model demonstrated superior predictive performance when compared to the RF and LR models. If corroborated through prospective studies, the XGBoost model may prove to be a valuable tool for the early prediction of liver cancer risk in overweight or obese individuals. Such predictive capabilities could, in turn, facilitate the implementation of timely preventive interventions against liver cancer.

The drug and biopharmaceutical enterprises play a pivotal part in transforming healthcare through the incident and delivery of creative cures and remedies. This item explores the key facets of these areas, stressing their impact on healthcare.Pharmaceuticals, outlined as wealthy secondhand in the diagnosis, situation, or stop of disease, aim to restore, correct, or refine everyday functions. On the other hand, biopharmaceuticals (or biologicals) circumscribe sugars, proteins, nucleic acids, living containers, or tissues and are curative devices that arise natural beginnings to a degree persons, animals, or microorganisms. In contrast to common pills combined with synthetic processes, biopharmaceuticals are primarily acquired through unaffected processes, containing extraction from living constructions or production utilizing alteration of genetic material Table 1.•    Some usual biopharmaceuticals, originally gleaned from animals or persons, are immediately created through biotechnological advancements.•    For instance, healing insulin, previously gleaned from porcine pancreatic islets, is immediately made utilizing alteration of genetic material in yeast (Saccharomyces cerevisiae) or E. coli.•    Biopharmaceuticals caused by alteration of genetic material usually fall into three classifications:•    Substances nearly equal to the body’s own key signaling proteins.•    Monoclonal antibodies look like those caused by apiece human immune plan against bacteria.•    Receptor builds (fusion proteins) established uniformly happening receptors connected to the immunoglobulin frame.Examples includeFrom living systems: Whole blood and ancestry parts, organs and fabric transplants, stem containers, antibodies for inactive immunization, polluted microbiota, human bosom milk, and human reproductive containers.Produced by recombinant DNA: Blood determinants, fabric plasminogen activators, hormones, hematopoietic growth determinants, interferon, interleukin-located produce, vaccines, monoclonal antibodies, tumor loss determinants, therapeutic enzymes.•    Key dispute Pharmaceutical manufacturing•    Biopharmaceuticals•    Healthcare strike•    Innovative medicines•    Therapeutic fragments•    Recombinant DNA technologies•    Personalized cure•    Gene medicines•    Regulatory processes.

Background: Neonatal hypoglycemia is known to cause significant neuronal damage and poor neurodevelopmental outcomes. Consensus guidelines are lacking for the management of persistent neonatal hypoglycemia and hyperinsulinism which often requires high concentrations of dextrose and medications. Although used in the pediatric population with persistent hypoglycemia, only a few case reports are published regarding the use of Maltodextrin supplementation in persistent neonatal hypoglycemia due to transient hyperinsulinism. Objective: To audit the use of Maltodextrins in the management of persistent neonatal hypoglycemia due to transient hyperinsulinism in neonates. Audit design: A retrospective chart review (CERNER electronic data) of all cases with persistent neonatal hypoglycemia who received Maltodextrin supplementation for a period of 3½ years between July 2018 and December 2021. Results: A total of 18 neonates received Maltodextrin supplementation for neonatal hypoglycemia during the audit period. 16/18 (89%) neonates who received Maltodextrin supplementation were weaned off from intravenous dextrose within 1 week without major side effects or severe rebound hypoglycemia. Two out of 18 babies who received Maltodextrin needed Diazoxide supplementation for persistent hypoglycemia.  Conclusion: The results of our audit are promising, yet further research and randomized controlled studies are needed to systematically evaluate the findings of this audit regarding Maltodextrin supplementation for the management of neonatal hypoglycemia with transient hyperinsulinism.

Today’s need for renewable energy combined with modern societies' reliability on on-demand power leads us to find solutions that can store excess or produce directly to storage for later use. A MOlecular Solar Thermal (MOST) based on norbornadiene/quadricyclane(NBD/QC) does the latter with an isomeric photoswitching molecule pair. The theoretical studies of molecular solar thermals (MOST) provide a needed understanding of potential synthetic candidates. We have investigated an array of more complex solvation models for the norbornadiene/quadricycle (NBD/QC) photoswitch and the impacts of the models on the first absorption energy. Our results have been obtained with various density functional theoretical methods and basis sets.

Distinguishing between fibroadenomas and phyllodes tumors is a challenge in breast surgery, despite advances in both radiology and pathology. In this case report, we analyze a patient presenting with a breast mass with multiple core needle biopsy results consistent with fibroadenoma, who underwent enucleation and was found to have phyllodes tumor on final pathology, thereby requiring surgical re-excision. This case report highlights the importance of patient clinical presentation in differentiating fibroadenomas and phyllodes tumors and explores how to achieve appropriate margins upon surgical re-excision after prior enucleation of phyllodes tumor via ultrasound localization of a seroma.

Forеst dеgradation has bеcomе incrеasingly pronouncеd in rеcеnt timеs due to shifts in climatе pattеrns and prolongеd drought pеriods. This invеstigation aims to cultivatе high-quality vеgеtation and gain insights into thеir еcophysiological rеsponsеs undеr conditions of watеr strеss. Spеcifically, wе conductеd еxpеrimеnts on 6-month-old individuals from two dеciduous spеciеs (Quеrcus subеr and Cеratonia siliqua) and two conifеrs (Tеtraclinis articulata and Cеdrus at-lantica), subjеcting thеm to watеr strеss conditions. Wе mеasurеd and analyzеd both thе basic (Ψb) and minimum (Ψm) lеaf watеr potеntials, factoring in climatic variablеs for all four forеst spеciеs. Our findings rеvеal that Quеrcus subеr еxhibits morе nеgativе valuеs, with a basic lеaf watеr potеntial of -0. 42 MPa and a minimum lеaf watеr potеntial of -1. 43 MPa, comparеd to thе othеr studiеd forеst spеciеs. On thе contrary, Cеdrus atlantica displays lеss nеgativе valuеs for thе minimum lеaf watеr potеntial, rеcording -0. 89 MPa. Thеsе outcomеs еnablе us to idеntify thе spеciеs displaying grеatеr rеsiliеncе against watеr strеss and climatе fluctuations. Nеvеrthеlеss, they also prompt broadеr inquiriеs into thе undеrlying mеchanisms govеrning watеr utilization in forеst flora. 

Light is not only a primary energy source, but it is also one of the environmental factors that affect plant growth and development. Common bean (Phaseolus vulgaris L.) is commonly produced in association with maize as subordinate intercrops in the Sidama region. Under such a production system, the shade effect may limit the photosynthetic and nitrogen-fixing capacity of common beans. The objective of the current study was to assess how inoculation and shade affect the ability to fix nitrogen and yield components of common beans. Three common bean varieties (Hawassa dume, Nassir, and Ibbado), two shade levels (open and 25% shade) as well as two levels of inoculation (uninoculated and inoculated) were used for these purposes. The experiment was set up in factorial randomized complete block design (RCBD) in four replications. In this experiment, Rhizobium inoculation and shade significantly (p < 0.05) affected the number of pods plant-1 and the number of seeds pod-1. The inoculated treatment produced the maximum number of pods plant-1 (14.02) and the lowest number of pods plant-1 (10.95) was obtained from uninoculated treatments. The results also showed that the inoculated Hawassa dume variety from the open treatments derived the maximum percentage of N from N2 fixation, whereas the non-inoculated Ibbado variety from the 25% shade treatments derived the lowest percentage of N. Common bean grown on full light had significantly greater N content than shade.

The superposition of non-linear waves in space refers to the phenomenon where two or more waves overlap and combine to form a new wave pattern. Non-linear waves are characterized by their ability to interact with each other, leading to complex behaviors that are not observed in linear wave systems. Understanding the stability and behavior of the superposition of non-linear waves in space is crucial in various fields such as physics, engineering, and oceanography.When non-linear waves superpose, their interactions can lead to a range of behaviors, including wave breaking, formation of solitons (localized wave packets), and the generation of harmonics. The stability of the superposition is determined by the balance between the non-linear effects and dispersive effects, which can either stabilize or destabilize the wave pattern. In addition, the behavior of non-linear waves in space is influenced by external factors such as boundaries, dissipation, and external forcing.In this paper, we study the behavior and characteristics of waves when they interact with each other. Superposition refers to the phenomenon where multiple waves combine to form a resultant wave. In the case of linear waves, this superposition occurs according to the principles of linear superposition, which states that the displacement or amplitude at any point is the algebraic sum of the displacements or amplitudes of the individual waves.Understanding the superposition of linear waves in space has various applications in fields such as physics, engineering, acoustics, optics, and signal processing. By studying how waves interact and combine, researchers can gain insights into wave propagation, interference patterns, wave reflections, diffraction, and other phenomena that occur when waves meet.

The current study aimed to investigate the effect of using a pilates exercise program on improving body mass index and body composition of non-physically active working women. The participants of the study were (16) working women at the University of Basrah, Iraq. A pre-posttest was utilized to collect the data, (after a 12-week cycle of exercises) in Pilates groups, the results of the study showed that there were statistically significant differences at (α ≤ 0.05) in the women’s mean scores on body mass index and body composition. The study concluded that the pilates exercise program is effective in the improvement of body mass index and body composition of non-physically active working women.

Systemic lupus erythematosus (SLE) is a chronic inflammatory multisystem disorder that commonly affects females during their reproductive years. It is characterized by the presence of autoantibodies and immune complex deposition, the etiology is not known but the interaction of an environmental agent in a genetically susceptible individual is thought to be fundamental. SLE most frequently involves the skin, joints, lungs, heart, kidney, and neuropsychiatric manifestations that may occur during the course of the disease. Mood disorders among SLE patients, particularly depression, are common and important psychiatric manifestations of the disease, in addition to their high incidence and possible deleterious influence on disease progression, so early identification and treatment of depression may have a significant influence on the patient’s quality of life.

Being hospitalized or undergoing a surgical procedure may be quite an isolating and lonely experience. This review explored loneliness in the hospital and surgical setting, and highlights the emotional and psychological challenges experienced by patients during their healthcare journey. While hospitals traditionally provide medical and surgical care for a wide array of conditions, the irony lies in their potential to disrupt one’s daily routines, contribute to loss of control, prolong hospital stays, and limit connections with family and loved ones leading to negative psychological well-being and intensifying feelings of loneliness. The implications of loneliness in the hospital and surgical contexts are discussed along with recommendations for improving the healthcare system’s response to the negative health consequences associated with loneliness. Coping strategies are discussed, including social support mechanisms, and approaches to healthy behaviors, i.e. mindfulness, which contribute to mitigating loneliness, in the context of hospitalizations and surgery.

Introduction: The functional anatomy of the myocardium allows envisioning that it initiates and ends at the origin of the great vessels. In our research, we have always considered that it should have a point of attachment to allow its helical rotation to fulfill the fundamental movements of shortening-torsion (systole) and lengthening-detorsion (suction), which once found, was called the cardiac fulcrum. Materials and methods: A total of 31 hearts, arising from the morgue and slaughterhouse were used: 17 corresponded to bovids and 14 were human. Anatomical and histological studies were performed. The heart was fixed in 10% buffered formalin. Hematoxylin-eosin, Masson’s trichrome staining technique, and 4-micron sections were used for the histological study, and 10 % formalin was used as a buffer. Results: The anatomical investigations have revealed that all the hearts (bovids and humans) have myocardial support whose histological structure in the analyzed specimens presents with an osseous or chondroid-tendinous character. In this structure, which we have called the cardiac fulcrum, are inserted the myocardial fibers at the origin and end of the band, which correspond to the continuous myocardium coiled as a helix.Conclusion: This description of the fulcrum would end the problem of lack of support of the myocardium to fulfill its function of suction/ejection.

Known since antiquity, migraine is a complex primary disorder, an episodic painful Autonomic Nervous System (ANS) storm, generally following the stress/post-stress phase. Despite exhaustive study of neuropeptides, neurochemicals, molecules, neurogenetics, neuroimaging along with animal and human experiments over the last 50 years, the scientific basis of migraine remains unknown. Straddling eight decades from Cortical Spreading Depression (CSD) to Calcitonin-Gene Related Peptide (CGRP) and its antagonists, exponentially increasing data have failed to create a gestalt synthesis. This article lays cohesive and robust fundamental principles for the comprehension and management of migraine. The continuum between migraine and non-congestive Primary Open-Angle Glaucoma (POAG), Normal Tension Glaucoma (NTG), or Low-Tension Glaucoma (LTG) is advancing. The case of sustained remission of migraine attacks (> 75%) over 3 years - 5 years with ocular hypotensive topical Bimatoprost Ophthalmic Solution (BOS) 0.3% in an N-of-1 trial in 3 patients with refractory migraine is presented. A cause-effect-adaptive process underlies the ANS-stress/post-stress-linked biology of migraine. Vasopressin-serotonin-norepinephrine ‘homeostatic-adaptive system’ Lowers Intraocular Pressure (IOP), while enhancing anti-stress, antinociception, vasomotor, and behaviour control functions, thereby selectively decreasing algogenic neural traffic in the ophthalmic division of trigeminal nerve (V1), and, raising the threshold to develop migraine. Striking migraine headache-aborting feature of vomiting is also likely linked to a several hundred-fold increase in arginine-vasopressin secretion. Eye-cover tests and self-ocular digital displacement are essential to studying the visual aura. Real-time physical displacement of Scintillating Scotoma (SS) and floating ‘stars’ is reported. The basis of spontaneous onset and offset, self-limited duration of migraine attacks, as well as female preponderance, and age/menopause decline in prevalence, are elucidated. Intraocular implants with long-term ocular hypotensive effects, including bimatoprost, are the future of migraine management. Controlled trials are required to establish the migraine-preventive effect of topical bimatoprost, a revolutionary advance in neuroscience.

Background and purpose: Schizophrenia (SZH) is a chronic mental disorder affecting the individuals` thoughts, perceptions, emotions, and behaviors. People with SZH may experience a wide range of positive, negative, and cognitive symptoms. Since there are no laboratory assays for definite SZH diagnosis, the authors aimed to identify the cerebral volumetric variations in SZH patients with the most prevalent positive symptoms as a diagnostic tool. This study selected 15 SZH patients displaying the most prevalent positive symptoms based on the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) criteria. Assessment tools included the Mini-Mental State Examination (MMSE) for cognitive impairment, the Positive and Negative Syndrome Scale (PANSS) for symptom evaluation, and the Wechsler Intelligence Scale (WIS) for intelligence assessment. Additionally, 15 Healthy Controls (HC) without cerebral pathologies were recruited. T1w MRI images underwent analysis using Freesurfer software. Data analysis employed Mann-Whitney U and χ² tests, considering p < 0.05 as significant.Results: SZH and HC groups showed no significant differences in age and gender. However, significant (p < 0.05) alterations in Gray Matter (GM) volume were observed in SZH patients compared to HC. In the right hemisphere, several regions exhibited volume reduction, including the Fusiform sulcus, Rostral middle frontal gyrus, isthmus cingulate, Frontal pole, Middle temporal gyrus, Lateral occipital gyrus, and Inferior Parietal gyrus. Notably, the Precentral sulcus and Postcentral gyrus demonstrated volume acceleration. Similarly, in the left hemisphere, various regions showed volume reduction while the Paracentral gyrus indicated volume acceleration, all significant (p < 0.05).Conclusion: SZH patients display significant volumetric brain changes, indicating potential for future diagnostic procedures in SZH.

A 10-year-old male child presented to the Department of Respiratory Medicine in March 2017, with complaints of dyspnea (mMRC grade 1) for last 14 months which aggravated on right lateral position, left-sided chest pain for 1 year and mild fever for 3 months. There was no hemoptysis, wheeze, and expectoration. The patient gave a past history of straw-colored pleural fluid aspiration one year ago which was diagnosed as tubercular hydropneumothorax (Figure 1) in 2016 based on pleural fluid analysis. He was given antitubercular treatment for the effusion. He took ATT for 8 months but with no improvement. 

Introduction: The evolution of a patient with severe traumatic brain injury may require the use of a tracheostomy as part of respiratory weaning. The central question revolves around the optimal timing to replace intubation with tracheostomy. The aim of this study is to evaluate the hypothesis that early tracheostomy reduces the incidence of ventilator-associated pneumonia (VAP), the duration of mechanical ventilation (MV), and the length of stay in the intensive care unit (ICU).Materials and methods: This was a retrospective study including all patients admitted to the department over a period of 08 months. Various historical, demographic, clinical, biological, and progression-related covariates were collected upon admission.Results: Among the 69 patients included in the study who underwent surgical tracheostomy, two groups were formed: those who underwent early tracheostomy (within the first 8 days of mechanical ventilation) and those with late tracheostomy (after 8 days). The early group showed a significant reduction in the duration of mechanical ventilation (16 ± 3 days) and length of stay in the intensive care unit (17 ± 3 days) compared to the late group (23 ± 6 days and 30 ± 11 days, respectively). No significant differences were observed regarding the incidence of ventilator-associated pneumonia (VAP) and mortality between the two groups.Conclusion: This study strengthens the existing literature by demonstrating that early tracheostomy is associated with a reduction in the duration of MV and length of stay in the ICU.

Introduction: In our fast-paced world, children’s dietary habits and behaviour are increasingly concerning, with a tendency toward indulging in sweets and snacks. Insights are derived from observations of 20 children at a crèche facility.Temptation of sweets: Children’s inherent attraction to sweet and salty snacks challenges maintaining a healthy diet. Excessive consumption can lead to health issues, recognizing the pivotal role parents and caregivers play in guiding children toward healthier choices.Significance of a balanced diet: A well-rounded and nutritious diet is crucial for a child’s physical and mental development. Providing fruits, vegetables, whole grains, and lean proteins is essential.Role of activities: Diversifying a child’s routine with engaging activities is a powerful strategy to redirect their focus from unhealthy snacks. Sports, arts, outdoor play, and educational games promote physical fitness, creativity, and cognitive development, contributing to a well-balanced lifestyle.Strategies for encouraging healthy choices:•    Lead by example: Modelling healthy habits inspires children to adopt similar behaviour.•    Educate about nutrition: Imparting knowledge about the nutritional value of foods equips children to make informed choices.•    Make healthy options accessible: Stocking the kitchen with nutritious snacks makes it convenient for children to opt for healthier alternatives.•    Limit unhealthy choices: Setting clear limits on sugary snacks helps children develop moderation and self-control.•    Create a fun and active environment: Fostering an enjoyable environment involves family outings, games, and making exercise a natural part of daily life.Results: Encouraging results were observed among the 20 children. Two children, aged around 12, demonstrated awareness of healthy habits. Excluding these two, others showed positive changes in behaviour towards sweets and snacks through activities and counselling.Conclusion: Maintaining a balance between a child’s consumption of sweets and snacks and engaging in diverse activities is crucial for overall development. A combination of nutritious choices and engaging activities guides children toward a path of health and happiness

Cardiovascular disease (CVD), including coronary artery disease and stroke, is the leading cause of death worldwide. Advances in primary and secondary prevention of CVD have improved patient prognoses and outcomes, however, it is imperative that the clinician and patient engage in early risk factor screening and preventive management of modifiable risk factors for CVD. In addition to blood lipid and blood pressure lowering medications, aspirin has been a long-standing therapy targeted to the prevention of CVD based on its antiplatelet and anti-inflammatory activity. However, recent articles and reports on updates to clinical guidelines for the primary prevention of CVD have resulted in confusion about aspirin recommendations. This review aims to assess the latest guidance on aspirin in CVD prevention and how to identify appropriately at-risk patients who may benefit from low-dose aspirin therapy as part of their CVD preventive healthcare choices. Additionally, this review will provide practical application guidance about clinician-patient conversations to clearly explain the benefits and risks of aspirin use and ensure a patient-centric decision to initiate aspirin therapy.