Bernard El Khoury*, S Khazaka, N Chalhoub, F Abi Habib, L Saba, Y Sarkis, K Honein, R Sayegh, R Slim and C Yaghi
Published on: 17th October, 2023
Background and aim: Cirrhosis leads to sarcopenia and to life-threatening complications in decompensated stages. The objective of this study is to show the impact of the loss of muscle mass and function on hepatic decompensations. Methods: Our study compares a group of cirrhotic patients with controls matched with the same sex and age. A questionnaire was created to collect demographic, anthropometric, and cirrhosis characteristics. Several CT scan sections were analyzed and the average measurements have been grouped into tertiles to estimate the impact on cirrhotic complications.Results: Our study included 33 controls and 33 cirrhotic patients of which 59.4% had NASH. Anthropometric characteristics were similar in cirrhotics men and women. Grip strength was significantly lower in cirrhotic men. Using the skeletal muscle index we found 39.39% of cirrhotic patients were sarcopenic mostly men 84.61%. In Cirrhotic men, the density of the psoas and paravertebral muscles was lower than in controls. In women psoas and paravertebral muscle areas were comparable and the total muscle surface in cirrhotic patients was higher. There was a negative correlation between this surface and the density of the psoas (r = -0.293 p = 0.017) indicating the presence of myosteatosis in women. Analysing tertile groups showed a significantly higher incidence of complications related to liver disease and liver failure in patients with the psoas and paravertebral muscle density in the lowest tertile and in the frail population according to the frailty index.Conclusion: Cirrhotic patients have myosteatosis and sarcopenia associated with a higher incidence of complications related to hepatic failure.
Harish Prabhu*, Venkat Vellanki, Suvarna Dhake and Sathiyan Karunanithi
Published on: 14th November, 2023
Background: The C3 glomerulopathies are a group of rare forms of glomerulonephritis with an incidence of 1-2 cases per million. It is mainly characterized by dysregulation of the alternative complement pathway. It is further classified morphologically based on electron microscopy ultrastructural findings into Dense Deposition Disease (DDD) and C3 glomerulonephritis. DDD is normally characterised by C3 Deposits. Case: We report a rare case of a young Emirati male who presented with sub nephrotic proteinuria and microscopic haematuria on routine evaluation. Renal biopsy showed features of DDD with combined C3 and C4 deposits. The retinal evaluation showed features of Drusen classically seen in DDD. Genomic study showed heterozygous mutation in c.5842G>C (p.Asp1948His) variant of uncertain significance in MYH9 gene. Discussion: C3 Glomerulopathy is a type of immune mediated disease previously classified as membranoproliferative glomerulonephritis. DDD is mainly characterised by C3 deposits in the glomerular basement Membrane. Our case has both C3 and C4d deposits, which is a rare entity. It shows the activation of both classical and alternate pathways. Conclusion: Dense deposition disease is a rare complement mediated glomerulopathy. It is characterised by C3 deposits. Dense deposition disease with combined C3 and C4d deposits is a new entity. The treatment and prognosis of such cases will be different and unique compared to the normal cases of DDD.
Sandeep S Sandhu, Samhita Mallavarapu and Shannon M Smith and Maurice M Garcia*
Published on: 21st November, 2023
Purpose: Lower-extremity (LE) injuries due to prolonged surgery duration in the dorsal lithotomy (DL) position are often morbid and can significantly affect the patient’s short and long-term quality of life. These include the development of lower extremity pressure ulcers, neuropathies, rhabdomyolysis, and compartment syndromes. As compared to other surgeries, this risk is increased in patients undergoing genital gender-affirming surgery (gGAS) due to the relatively long operative time of these surgeries related to their high complexity. Our study aimed to describe our technique for preventing LE injuries in the DL position, and to evaluate our positioning-related post-operative complications and rates.Materials and Methods: We describe our technique for positioning in the dorsal lithotomy position, with an emphasis on injury prevention. We ensure a specific padding technique of the LE, we alert surgical assistants to not lean/rest on the LE, and we schedule LE checks and repositioning throughout the case to prevent and mitigate occult injuries. Herein, we report our clinical positioning-related outcomes and complications among all patients undergoing gGAS procedures lasting >300 minutes between January 2017 to March 2023. Results: A total of 227 patients underwent 310 surgical procedures (156 masculinizing, 154 feminizing gGAS procedures). Mean operative time was 495.5 minutes+/-156.5 minutes (SD) (Range 300–1095 minutes). A total of 6/227 (2.6%) patients (2 masculinizing and 4 feminizing surgical patients) had transient, self-limited LE pain post-op. No (0%) patients had major complications including chronic nerve injury, pressure ulcers, rhabdomyolysis, or compartment syndrome.Conclusions: Our study is the first to describe a replicable technique, and specifically which integrates the OR team and nursing staff, to prevent LE injuries during DL. We show that it is possible to achieve a 0%-to-rare incidence of major LE injury during long-duration surgeries.
Aim: Kidney stone disease, which can affect people of all ages and whose incidence increases day by day, is becoming a public health problem due to treatment costs. This study aims to determine how factors related to kidney stones affect the diagnosis of the disease when taken together, rather than determining their relationship with the disease one by one.Materials and methods: An open-access dataset containing kidney stone status and associated factors was used in the study. Mann Whitney U test and independent sample t-test were used in data analysis. Logistic regression was performed with the backward variable selection method to determine the factors associated with kidney stones. ROC analysis was used to determine the power of the variables that were significant as a result of logistic regression analysis, individually and together, in discriminating kidney stones.Results: According to the results of logistic regression analysis, gravity, cond, and urea calc variables were found to be associated with kidney stones. With ROC analysis, it can be said that urea, calc, and gravity variables with AUC values above 0.60 can distinguish kidney stones. When the combinations of these variables are examined, the AUC values of the binary combinations are between 0.734 and 0.759, while the AUC value obtained for the triple combination is 0.831.Conclusion: According to the results obtained from the article, it can be said that while the factors associated with the disease and used in the diagnosis have little effect on the diagnosis of the disease alone based on the AUC values obtained from the ROC analysis, it can be said that considering them together increases the accuracy in diagnosis. Therefore, considering the factors thought to be associated with the disease together may be more appropriate in diagnosis and may give more accurate results.
Márta Zsoldos, Attila K Pajor*, Krisztián Zsoldos and Henriette Pusztafalvi
Published on: 4th December, 2023
Introduction: Adolescents and young adults often engage in oral sex. However, the factors affecting the development of agreeing with oral sex are not clear enough.Objective: We aimed to assess the degree of agreement with oral sex among high school students and to search for background factors affecting this.Material and method: We conducted a quantitative cross-sectional study among 157 females and 38 male high school students over the age of eighteen by using an anonymous, paper-based, multiple-choice, self-administered questionnaire. For statistical analysis, we used descriptive statistics, two-sample t-tests, and Spearman rank correlation. Results: Of the respondents 67.9% were sexually active and 31.6% of them had more than one sexual partner. Of males 97.1% and of females 84.9% agreed with accepting oral sex. Degree of agreement with oral sex was higher in those who had had partnered sexual experience, and in those females who more frequently met close friends outside of school. Most participants were not in a current relationship with a partner, and for those who were, its duration did not affect the degree of accepting oral sex. The degree of agreement with the proficiency in male sexuality, and the degree of agreement with those dimensions of sexuality that most expressed the sexual drive and the desire to gratify it with the partner showed the strongest positive correlation with the degree of agreement with oral sex. In addition, the degree of agreement with the items of expressing sexual openness showed correlations with the degree of accepting oral sex. Conclusion: The degree of agreement with oral sex is high among high school students. Among the factors influencing this, the intensity of meeting friends seems to be important. We therefore recommend that the schools improve sex education in groups, highlighting the risks of oral sex, to reach the target individuals and their friends as well as their potential partners.
Background: Faba bean (Vicia faba L.) is one of the most important grain legume crops in Egypt and many other countries of the world because the seeds offer a low-cost source of protein, lysine, carbohydrates, minerals, and vitamins. Chocolate spot disease is a stress-related fungal disease produced by Botrytis fabae that causes plant damage, limits photosynthetic activity, and reduces yield. Results: Trichoderma atroviride greatly reduced mycelial growth by 90.00% in vitro, followed by T. harzianum (86.67%) and T. album (83.89%) on average. In vivo, all studied antagonists dramatically reduced Botrytis fabae disease incidence and severity in both seasons 2021/22 and 2022/23. T. atroviride showed the highest efficacy bioagent (73.55 and 85.15%), followed by T. harzianum (72.55 and 81.22%), in controlling B. fabae of faba bean plants in both seasons. In addition, the results also showed that all tested biological treatments had an impact on yield components and increased levels of chlorophyll, protein%, phenols, flavonoids, Peroxidase (PO), polyphenol Oxidase (PPO), chitinase, and -1, 3-glucanase activities compared to control treatment in both seasons. In this regard, spraying T. atroviride showed the highest efficacy as a bioagent, followed by T. harzianum. Contrary, T. hamatum showed the lowest efficacy compared to other treatments in both seasons. Conclusion: This investigation was carried out to determine the effectiveness of several different antagonists, i.e., T. album, T. atrovirde, T. hamatum, and T. harzianum (30 x 106 spore/ml), Blight Stop, and Bio Zeid, for controlling Botrytis fabae on bean plants and evaluating their effect on yield parameters, components, and quality.
Amitrano L*, Guardascione MA, Saviano S, Martino A and Lombardi G
Published on: 27th December, 2023
Introduction: Bleeding from varices is a severe complication in patients with cirrhosis. Despite its treatment has been well established in the last three decades the mortality can be still high. This study compares the epidemiological features and the bleeding-related outcomes of a group of patients published about ten years ago with a more recent group of 168 consecutive patients. Methods: The diagnosis, the treatment, and the main outcomes (5-day failure, 5-day and 6-week rebleeding, 5-day and 6-week mortality) of variceal bleeding were evaluated according to the current guidelines.Results: The number of patients with cirrhosis admitted for variceal bleeding every year has progressively decreased in the last ten years. The age sex and severity of liver disease, evaluated with Child Pugh and MELD scores, were comparable in the two series. In the more recent series, there were significantly fewer patients with HCV infection and more patients with alcohol-related cirrhosis. The main outcomes of bleeding were comparable too. Overall, at 6 weeks 36.4% of patients did not overcome the bleeding episode. Conclusion: The decreasing incidence of bleeding from varices is likely attributable to antiviral treatment of HCV and HBV and the larger diffusion of beta-blockers in primary prophylaxis. Despite the larger application of the gold standard therapy, the mortality of variceal bleeding remains high in patients with cirrhosis.
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.
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.
Nada Benabdelouahab*, Hajar Moujtahid, Larbi Aberouch, Jaouad Tadili, Ali Kettani and Mamoun Faroudy
Published on: 19th January, 2024
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.
Michelle Nanni*, Vivian Hu, Swagata Patnaik, Alejandro Folch Sandoval and Johanna Contreras
Published on: 24th January, 2024
The incidence of heart failure with preserved ejection fraction (HFpEF) continues to rise, and obesity continues to be a predominant comorbid condition affecting patients with HFpEF. Recent research sheds light on the important pathophysiologic role that obesity plays in the development of HFpEF, with many areas of opportunity existing for future developments in understanding the etiology and management of the disease. Crucial in these pathophysiologic developments are studies that clearly characterize the obesity phenotype in HFpEF and compare it to presentations of HFpEF in patients without obesity. This paper reviews the existing literature on the obesity phenotype within HFpEF and discusses some of the prevailing ideas behind the pathophysiologic interplay between the conditions, as well as the existing treatments demonstrating improved outcomes in HFpEF.
With the increase in incidence and prevalence of myeloid neoplasms in India, it has become a necessity to understand its molecular mechanisms, acquisition of genomic alterations, and understand its primary and secondary resistance pathways which ultimately impact the decision of therapeutics. The objective of this review is to investigate the molecular aspects of this disease type and identify the biomarkers that help with diagnosis, risk assessment, prognosis, and selecting the best line of treatment for a specific myeloid neoplasm. Advancements and innovations in molecular technologies from simplest Real-Time PCR to high throughput next-generation sequencing have played a vital role in screening the most common mutations and fusions to the novel and rare. Molecular technologies have helped to enumerate the genomic landscape of myeloid malignancies. The understanding of both- the mechanisms and the technology is a strong combination as it has helped revolutionize precision oncology and helped in giving better therapeutic choices with better clinical outcomes. The importance of cellular morphology, clinical symptoms, and molecular pathology in assessing the risk of myeloid malignancies is emphasized and summarized in the review. The review concludes that understanding molecular pathogenesis can be improved by using clinical-pathological-molecular strategies for diagnosis and therapy decision-making.
Paribello Giuseppe*, Papa Fortuna, Ganzerli Maria Chiara, Del Prete Chiara, Lanzuise Caterina, Capuano Ivana, Pacella Daniela, Sannino Giuseppina, Rompianesi Gianluca, Pisani Antonio and Riccio Eleonora
Published on: 29th January, 2024
Cognitive impairment (CI) can be defined as a clinical syndrome characterized by a decline in at least two of several domains of cognitive function. Chronic kidney disease (CKD) is an independent risk factor for cognitive decline, and the prevalence in patients with end-stage renal disease is estimated at 50% - 80%. However, it appears that CI in patients on renal replacement therapy (RRT) may be underdiagnosed. In this cross-sectional study, 33 patients on Peritoneal Dialysis from the AOU Federico II were recruited, and matched by sex, age, and dialysis age to 33 patients on Hemodialysis and 33 controls belonging to healthy volunteers. The total 66 patients and their 33 controls were assessed for cognitive function using the Cognitive Reserve Index Questionnaire (CRIq) test. Between PD and HD patients, a statistically significant difference emerged in all subscores and in the total CRI. Between PD patients and controls, a statistically significant difference emerged in education, CRI- CRI-leisure time, and the total CRI. Therefore, CI may occur in patients undergoing PD earlier and with a greater frequency than in the general population, but with a lower incidence than in patients on HD. These considerations should be communicated to patients when they are educated about different replacement methods.
Luísa Soares*, Karina Gomes and Inês dos Santos Silva
Published on: 5th February, 2024
Thyroid cancer, characterized by the development of malignant tumors in the cells of the thyroid gland, impacts the quality of life and well-being of diagnosed patients. This article explores different aspects of this type of cancer, including everything from its typologies, incidence, causes, and risk factors to symptoms, diagnostic methods, and treatment options. Furthermore, the impact on Health-Related Quality of Life (HRQoL) is addressed, highlighting that, although the prognosis is generally favorable, patients can experience significant negative repercussions. Therefore, the need for further investigation into the priorities of psychological intervention with the population with this problem is emphasized.
Abbas Andishmand, Ehsan Zolfeqari*, Mahdiah Sadat Namayandah and Hossein Montazer Ghaem
Published on: 5th February, 2024
Background: Acute Myocardial Infarction (AMI) results in a reduction in patients’ life expectancy. Different risk factors affect the risk of Major Adverse Cardiac Events (MACE). Although the role of kidney dysfunction in patients with Chronic Kidney Disease (CKD) in cardiac events has been identified, many patients with AMI are unaware of their underlying kidney disease. This study aimed to compare the incidence of adverse cardiovascular events and identify predictors of major adverse cardiovascular events in the medium term among patients with and without renal dysfunction following AMI. Methods: This retrospective cohort study was conducted on 1039 patients who were hospitalized for Acute Myocardial Infarction (AMI) between 2018 and 2019. The patient cohort comprised 314 women (mean age: 69.8 ± 13.2 years) and 725 men (mean age: 60.5 ± 13.8 years). Patient data were obtained from the registry of patients with acute myocardial infarction and the participants were followed up for a minimum of one year following hospital discharge to assess the incidence of MACE.Results: The study found that patients with a Glomerular Filtration Rate (GFR) level below 60 had a significantly higher mortality rate than those with a GFR level of 60 or above (15.7% vs. 3.5%,p < 0.0001). The multivariate analysis showed that Diabetes Mellitus (DM), GFR, and Non-ST Elevation Myocardial Infarction (NSTEMI) are significant risk factors for cardiovascular events. (p = 0.016, p = 0.015, p = 0.006 respectively), while variables such as sex, age, and Hypertension (HTN) were not significant risk factors. There was a negative correlation between GFR and death (0.241 - = r, p < 0.0001)Conclusion: This study highlights the importance of detecting kidney disease during an AMI and managing risk factors for cardiovascular disease to improve health outcomes and reduce the risk of mortality.
Neurologic diseases are recognized to have multifactorial origins well beyond mere genetic predisposition. Nutritional burdens have been identified to contribute to neurodegeneration. Healthy diets are becoming increasingly appreciated to potentially play key roles in both the developing and developed world of reducing incidences of neurologic diseases, while unhealthy diets are acknowledged to be contributing to their rise.
Eleni Tserioti, Harmeet Chana and Abdul-Majeed Salmasi*
Published on: 19th February, 2024
Introduction: Hypertension is the strongest independent predictor of Coronary Artery Disease (CAD) identified by Computed tomography of coronary arteries (CTCA). In this study, CTCA-assessed Coronary Calcium Scoring (CCS) was studied in hypertensive subjects referred for CTCA.Methods: After excluding TAVI and graft assessment patients, the individual electronic health records of 410 consecutive patients who underwent CTCA between July and November 2020, were reviewed with a mean age of 58.7 years. Risk factors were recorded including smoking (38%), hyperlipidaemia (33%), positive family history (22%), systemic hypertension (48%), diabetes mellitus (30%), and male gender (46%). Referral criteria, ethnicity, cardiac, and past medical history were recorded. Patients were stratified into four groups according to CAD severity: absent, mild, moderate, and severe disease, as seen on CTCA. The mean CCS for each CAD category was compared between hypertensive and non-hypertensive patients. Mean CCS were further compared according to the number of coronary arteries affected and the severity of CAD in each artery. Results: Out of all CTCA reports, 200 (48.8%) CCS were interpreted in the very low-risk category, 80 (19.5%) low risk, 58 (14.1%) moderate risk, 23 (5.6%) moderately high risk and 49 (12.0%) high risk. A significant difference in mean CCS and CAD severity was observed between mild, moderate, and severe CAD (p = 0.015 and p < 0.001). Comparison of CCS between hypertensives and non-hypertensives, across the four CAD severity categories, revealed a significant difference in mean CCS in the severe CAD category (p = 0.03). There was no significant difference in the CCS between hypertensives with chest pain and hypertensives without chest pain. A higher number of affected coronary arteries was associated with a higher mean CCS and a significant difference in CCS was observed between hypertensive and non-hypertensive subjects for the number of arteries affected. Similar results were observed when comparing mean CCS in moderate-severely affected coronary arteries.Conclusion: Hypertensive patients with a high CCS were associated with a higher incidence of severe CAD independent of the presence of chest pain. These results suggest that the incorporation of CCS in the investigation of CAD on CT angiography may pose a powerful adjunct in proposing an alternative paradigm for the assessment of patients with hypertension, in the progress of coronary artery disease.
Chemotherapy-Induced Peripheral Neuropathy (CIPN) is a major limiting side effect of many common chemotherapeutics often leading patients to terminate their chemotherapy treatment regimen early. The development of CIPN differs by chemotherapeutic class, with platinum- and taxane-based treatments demonstrating the highest incidence rates. Despite its relatively high prevalence, there are currently no FDA-approved treatments for CIPN, and clinicians must rely on the off-label use of several analgesics and various non-pharmacological approaches to treat CIPN symptoms in patients. Novel insights on the development of CIPN have identified new drug targets leading to several Phase II clinical trials to be initiated. Here, we describe recent advances in drug development for CIPN.
Paribello Giuseppe*, Papa Fortuna, Ganzerli Maria Chiara, Del Prete Chiara, Capuano Ivana, Pacella Daniela, Sannino Giuseppina, Rompianesi Gianluca, Pisani Antonio and Riccio Eleonora
Published on: 28th February, 2024
Peritoneal dialysis (PD) is a well-tolerated home renal replacement therapy for patients with end-stage renal disease. One of the critical points for the success of a PD program is the care of the peritoneal catheter and the exit site. A target for the incidence of infections/year should not exceed 0,40. The aim of the study was to observe whether our exit-site cleansing and dressing method, which involves the application of silver-releasing dressing may be associated with a reduction in the incidence of exit-site infections compared to the data reported in the literature.The data of 51 patients attending the Peritoneal Dialysis DH of the AOU Federico II in Naples in the period between July 2021 and September 2023 were analyzed.Overall, 27670 catheter days were analyzed with an average incidence of 0.23 infections/year/patient. The average incidence (0.23) is lower than the target suggested by the ISPD (0.4 infections/year/patient) and the average estimated in the USA (0.5-0.6 infections/year/patient). The average incidence from 2021 to 2023, equal to 0.23 episodes/year/patient, is therefore lower than the incidence of 2014-2015 (0.38 episodes/year/patient), a two-year period in which we did not use dressings with silver Exit-Pad.The use of Exit-Pad silver ion-releasing dressings Ag may further hinder the development of such infections by reducing the failure of peritoneal treatment and the transition to hemodialysis.
Sheena P Kochumon and Cherupally Krishnan Krishnan Nair*
Published on: 29th March, 2024
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.
I am to express my view that Heighten Science Publications are reliable quick even after peer review process. I hope and wish the publications will go a long way in disseminating science to many interested in scientific research.
College of Fisheries, CAU(I), Tripura, India
Ajit Kumar Roy
In 2017, I submitted a manuscript to the journal Archives of Biotechnology and Biomedicine belonging to Heighten Science Publications Corporation. Within one week I already received the response from the editor. All processing steps were really fast so in terms of a speedy publication I can particularly recommend the journal Archives of Biotechnology and Biomedicine. The responsible contact person of the journal was always available, which gives a trustworthy impression to the author. Also the peer review process was clear and constructive. So from my experience with Heighten Science Publications Corporation I can recommend publishing there.
University of Tubingen, Germany
Yvonne Mast
My candid opinion is that the service you render is second to none. My favourite part is the prompt response to issue, really i value that.
Abiodun Akanbi Adeogun
This is to specify that I have had an extensive and detailed interaction with the Editorial team of Annals of Clinical Gastroenterology and Hepatology, USA, lasting over a significant period of time. My interaction has been extremely pleasant, especially with Ms Allie Smith, as I find the communication quite inspiring and crystal clear. The attitude of aforesaid individuals is quite helpful and guiding in pertinent instances. It has been a commemorative journey so far working with the Journal and I hope that the symbiosis will continue, evolve and flourish in the forthcoming years.
I wish the journal, related personnel and aforementioned individuals a fruitful, successful run.
New Delhi, India
Anubha Bajaj
I hope to ability to make some new investigation and publish in Your Company in future.
Artur Stopyra
Thank you very much. I think the review process and all of what concerns the administration of the publication concerning our paper has been excellent. The nice and quick answers have been very good I think.
Doris Nilsson
The service is nice and the time of processing the application is fast.
Department of Neurosurgery, Queen Elizabeth Hospital, Hong Kong
Long Ching
Thank you and your company for effective support of authors which are very much dependable on the funds gambling for science in the different countries of our huge and unpredictable world. We are doing our work and should rely on a teams like Galley Proof-HSPC. Great success to all of you for the 2019th!
Be well all the year long.
Russia
Victor V Apollonov
To the editorial team at HSPI and the Journal of Clinical Nephrology:
Thank you so much for your hard work and collaboration in bringing our article to life. Your staff was responsive, flexible, and communicative and made the process smooth and easy. Thank you!
Alejandro Munoz
I am delighted and satisfied with. Heighten Science Publications as my manuscript was thoroughly assessed and published on time without delay. Keep up the good work.
HSPI: We're glad you're here. Please click "create a new Query" if you are a new visitor to our website and need further information from us.
If you are already a member of our network and need to keep track of any developments regarding a question you have already submitted, click "take me to my Query."