Recent Viewed Articles

Spinal muscular atrophy is an autosomal recessive neuromuscular disorder characterized by progressive muscle weakness and atrophy. It is one of the most common single-gene disorders with an incidence rate of approximately 1 in 10,000 live births. The clinical manifestations are progressive hypotonia and muscle weakness due to the degeneration of alpha neurons in the anterior horn cells of the spinal cord and motor nuclei in the lower brain stem. Depending on the severity of the symptoms, SMA has five subtypes. Supportive measures can be offered for respiratory, gastrointestinal, and musculoskeletal complications. Carrier testing for all couples is recommended and this can be done by Multiplex Ligation-dependent Probe Amplification (MLPA). Prenatal diagnosis can be offered to carrier couples. Therapies must be given within the newborn period for maximum benefit and before the loss of motor neurons. It is achieved by identifying the SMA babies through Newborn screening. Several new FDA-approved drugs can reduce the progression of symptoms in SMA. However, they cannot offer a definite cure. Clinical follow-up and Neurological assessment demonstrate that SMA children can attain developmental milestones after receiving treatment, which is never normally attained in untreated cases. In utero SMA treatment with Zolgensma would enhance the survival rate and favorable neurological outcomes in the future. Base editing and Gene editing with CRISPR-Cas technologies to target the mutations and restore functional and stable SMN protein levels are the future hopes for a permanent cure of SMA.

The present review highlights some of the very important contributions to non-alignment ways of comparing biological sequences, which may be genome sequences of nucleotides, protein sequences of amino acids, or sequences of protein secondary structures. The discussion centers around specific methods applicable to the comparison of three types of sequences. The methods of comparison of genome sequences are based on three pairs of biological groups of nucleotides; the same for protein sequences are based on either physio-chemical property values of amino acids or on classified groups of amino acids of different cardinalities obtained from the physio-chemical properties; the same for sequences of secondary structures of proteins are based on their sequential expressions of structure elements of cardinality three and four. Comparison is made in the time domain and also in the frequency domain. Different taxa of known phylogeny are considered for comparison. It tries to find out the specific method of comparison, which can show the exact phylogeny of the taxa. If a new sequence appears in the database, it becomes essential to know its phylogeny. For this purpose, a phylogenetic tree is drawn on the sequences of the known taxa together with this new sequence using the best possible method. If the species having this new sequence belongs to the old taxa, there is nothing to worry about. Otherwise, the species with the new sequence has to be studied separately. This is the general reason for the construction of a phylogenetic tree in any form of biological sequence comparison.

We report a rare case of 62-year-old South Asian women who visited the Molecular Pathology and Genomics Department for hereditary germline cancer genetic testing after being diagnosed with oesophageal cancer, reported as invasive keratinizing squamous cell carcinoma metastasized to the lymph nodes. Her personal history revealed that she was diagnosed with triple-negative breast cancer five years before oesophageal cancer. Germline cancer testing showed pathogenic variants in BRCA1 gene c.68_69delAG, which proved it a hereditary breast and ovarian cancer syndrome. She was started on PARP inhibitors but developed some secondary respiratory failure and succumbed to death. Less than 10 cases have been reported in the literature of the association of germline BRCA1 and Squamous cell Carcinoma – the esophagus. The article focuses on the probable pathogenesis of BRCA1 mutation with non-classic malignancies and the response of Poly adenosine diphosphate ribose polymerase inhibitors (PARP) inhibitors in such a scenario. We report an unusual manifestation of the BRCA1 gene with second primary oesophageal squamous cell cancer occurring five years later to triple-negative breast cancer.

The presence of heavy metals (HMs) on Earth is essential to all forms of life. These metals are essential for plant and animal development but can have numerous negative effects on the living environment. In this review, we looked at where HMs come from, why they are harmful, and how they affect plants. Articles indexed in Google Scholar, PubMed, Research Gate, Science Direct, and a few books on heavy metals were consulted for this study. Heavy metals are essential for plant development and growth. According to this analysis, the hazardous effects of HMs are on the rise all throughout the globe, and this trend may be attributed mostly to human activity. Because of its impact on agricultural productivity and environmental changes, soil pollution caused by HMs is among the most crucial elements. Plants have evolved very sophisticated defense systems to deal with these environmental challenges. The threat that HM stress poses to plants has attracted a lot of attention worldwide because it could stunt agriculture’s long-term expansion. In spite of their importance for plants, this study found that HMs pose a significant threat to plant life. The novelty of this review lies in its detailed examination of both the beneficial and detrimental roles of HMs, providing a balanced perspective often overlooked in current literature. The significance of this work is underscored by its potential to inform sustainable agricultural practices and environmental management strategies, as it highlights the delicate balance required to harness the benefits of HMs while mitigating their risks. Despite their necessity for plant development, this review underscores the significant risks HMs pose to plant health and ecosystems.Less than 10 cases have been reported in the literature of the association of germline BRCA1 and Squamous cell Carcinoma – the esophagus. The article focuses on the probable pathogenesis of BRCA1 mutation with non-classic malignancies and the response of Poly adenosine diphosphate ribose polymerase inhibitors (PARP) inhibitors in such a scenario. We report an unusual manifestation of the BRCA1 gene with second primary oesophageal squamous cell cancer occurring five years later to triple-negative breast cancer.

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.

Foreign bodies of the esophagus are part of the traumatic emergencies in ENT. They are most often encountered in children, whereas in adults they occur in a particular context and are rarely overlooked.This was a 48-year-old patient from a neighboring country referred by a colleague for a history of neglected laryngeal contusion with infectious cervical fistula evolving for 2 years. Further questioning revealed a notion of accidental ingestion of dentures. The first endoscopy was of capital interest in especially in the diagnosis and management of this long-retained foreign body. The extraction under general anesthesia was done by a combined endoscopic and external approach. The postoperative course was marked by superinfection and swallowing disorders.Cervical suppurations secondary to esophageal foreign bodies are rare, especially in adults. Clinicians should consider this possibility in the face of any chronic cervical suppuration that resists treatment.

SARS-CoV-2 is a new pandemic infection that affects at the beginning the upper respiratory system, and, successively, all the organisms, due to cytokine storm, with serious consequences that can reach death. The aim of this work was the observation of the nasal mucosa of enrolled 60 patients, resulting negative for two weeks to the molecular swab for SARS-CoV-2, versus the control group. Rhino-fibroscopy and nasal cytology of nasal mucosa were performed for both the investigated groups. The observation of the samples showed the occurrence of plasmablastic lymphocytes and Downey II lymphocytes type. The former type of lymphocytes was prevalent against the second one, probably because of an immunological “scar”. The rhino-fibroscopy showed a “pseudo ischemia of nasal submucosa” at pre and pericranial levels, not occurred in the control group.The occurrence of atypical lymphocytes in the nasal smear was analog to that observed in the blood peripheral smear, probably caused by mechanisms of local immune reaction and dysregulation like those observed in other virus infections. Our findings suggest that the nasal mucosa study through the nasal cytology, can represent an important predictive tool of the SARS-CoV-2 infection.

Background: This study explored whether emotional distress, coping, and/or resilience contributed to return to driving (RTD) following experienced mild traumatic brain injury, and whether these variables of interest differed among those who had and had not RTD.  Methods: The present study evaluated de-identified archival data of 65 patients with mTBI following an MVA. Patients were either the driver, passenger, /or pedestrian struck by a motor vehicle, and aged 22 to 69 years. The sample consisted of 36 men and 29 women with an average education. The mean months elapsed between the accident and the assessment was 16.82 months. Pearson correlations were used to test for associations between all explanatory and outcome variables. Separate linear and hierarchical regressions were carried out to evaluate whether variables of interest were significant predictors of RTD.  Results: Findings revealed that the presence of depressive symptoms was associated with coping, irrespective of style, resilience, driving-related anxiety, and RTD. Moreover, RTD was related to driving-related anxiety, too, and in fact, anxiety (considering the presence of depressive symptoms) appeared to be an even greater limiting factor when considering RTD in this population. Age, gender, and education did not influence RTD. Conclusion: The present study revealed that depressive symptoms and driving-related anxiety in particular contribute to whether patients with mTBI RTD, irrespective of time since injury, age, and gender. Coping styles and resilience did not predict RTD. Further work is warranted to address the paucity of research investigating RTD parameters that contribute to and/or hinder RTD among mTBI sufferers.

Anthropogenic activity has escalated the planet’s temperature and resulted in dire consequences on our environment, and our health, whether physical or mental. The imbalance created in the planet’s environmental conditions has consequently caused a rupture in mental health, and ecoanxiety has become one of the adverse indirect repercussions. Not quite recently, a sense of urgency has been spreading in the literature of climate change, evoking a call for action, and requesting commitment from us all: individuals, communities, and countries. This paper attempts to establish a link between the climate crisis and ecoanxiety in the aim to restore our cognition of our roles to save the planet, salvage our health and preserve, and conserve, environmental resources for future generations.

Background and aims: Iron deficiency is one of the most important health issues in adolescents, especially girls. Today, empowerment is considered an effective program to change behavior in chronic disease control. This study was conducted to determine the effect of the family-centered empowerment model on the empowerment indicators of student girls with iron deficiency anemia and their mothers.Methods: This is a two-group semi-experimental study conducted on 60 student girls along with their mothers, who were selected by a two-stage cluster random sampling method. Data was collected using a demographic information questionnaire and an adolescent and mother empowerment questionnaire. The intervention based on the family-centered empowerment model was implemented for the test group, and after 1.5 months, data from both groups were collected and analyzed with chi-square, independent t, and paired t-tests.Results: The results of the independent t-test showed that there was a significant difference between the student girls in the test and control groups after the intervention in terms of empowerment indicators (p < 0.05). The results of the independent t-test showed that there was a significant difference between the mothers in the test and control groups after the intervention in terms of ability indicators (p < 0.05), while before the intervention, this difference was not significant (p > 0.05). Conclusion: The results of the present study showed that the implementation of the family-centered empowerment model not only increased the empowerment indicators of student girls with iron deficiency anemia but also had an effect on the empowerment of their mothers.