ORIGINAL RESEARCH ARTICLE | July 12, 2024
Assessment of Carcinogenic/Mutagenic Potential of Different Series of Synthetic Compounds
Faisal Tasleem, Ayesha Bintay Farooq, Ijaz Ahmad, Abu Bakar Siddique, Rabia Tabassum, Farah Liaqat, Ambar Nadeem Muhammad, Adnan Hafiz, Rashed Rahman
Page no 268-287 |
DOI: 10.36348/sjls.2024.v09i07.005
The new drug research is usually based on synthesis medicine. The use of these medications has created problems such as tolerance in humans, for a long time and due to legitimate use of anti-infection, microbial defense against branded medication is growing. A mutagensis study by Ames in the early 1970's, used worldwide by drug and chemicals companies to diagnose mutagens carcinogenes, making it possible for them to be detected, and to be added to the mutagenic synthesis portion or radiation source triggering irreversible changes, and to the genetic material transmitted from the parent. deoxyribonucleic acid (DNA). The purpose of this study was to assessment of carcinogenicity of synthetic compounds series by hemolytic, Ames and Damaged DNA protection assay. The cytotoxicity was determined with hemolytic assay and DNA Damage protection assay while mutagenicity was resolute by using S. typhimurium TA100 and TA98 strains. It is concluded that the compounds with less hemolytic compounds are good for uses in drugs. Synthetic compounds were determined to be non- mutagenic in nature. Analysis of variance (ANOVA) was applied to compare the hemolysis percent between different concentrations.
REVIEW ARTICLE | July 11, 2024
Sleep Disorders & Bruxism – Trigeminal Cardiac Reflex a Missing Link!
Dr. Faisal Taiyebali Zardi, Dr. Nagalaxmi V., Dr. Brajesh Gupta, Dr. Rishika Reddy, Dr. Srishitha Enaganti Rao
Page no 122-128 |
DOI: 10.36348/sjodr.2024.v09i07.001
The trigeminal cardiac reflex (TCR) is a unique and powerful brainstem reflex that has received a great deal of research interest. Sleep bruxism (SB) is sleep disorder that affects the TCR as well as other brainstem reflexes via stimulation of the brainstem; at the level of the gasserion ganglion (GG). TCR play an important role in sleep bruxism while an exaggerated form of this reflex could be responsible for sleep disorders. This paper will discuss the unusual relationship of Trigeminal cardiac reflex – bruxism – sleep disorders.
ORIGINAL RESEARCH ARTICLE | July 11, 2024
Pattern of Cholelithiasis and Cholecystitis among Obese Patients
Dr. Md. Jakir Hossain, Dr. Mohmmad Shahin Kabir, Dr. Md. Yeakub Hosain, Dr. Md. Mahbub Azad, Dr. Shahin Reza
Page no 455-461 |
DOI: 10.36348/sjmps.2024.v10i07.005
Introduction: Obesity is a major health problem in western society with rapidly increasing prevalence in most countries. The healthcare burden of obesity is far reaching but many of the consequences are yet to be fully understood. While there is a perception that obesity negatively impacts on health and stone formation in gall bladder there is conflicting evidence for this. Aims & Objectives: To assess whether obesity impacts on the blood cholesterol level which leads to dislipidaemia and gall stone formation. To identify whether dislipidaemia causes cholelithiasis and cholecystitis among obese patient. Methods: Between 1st December, 2018 and 31thMay, 2019, patients admitted in dept of surgery at Shaheed Ziaur Rahman Medical College Hospital in Bogura, Bangladesh were enrolled. Following informed consent, BMI was assessed. High risk patients and complications were identified according to established criteria. Patients were grouped according to BMI categories as Normal, overweight, Obese grade-I and Obese grade-II. Various disease of gall bladder including stone formation and its complications were analysed on all obese patients treated at Shaheed Ziaur Rahman Medical College Hospital using a SQL database. Results: Total 59 people were available and consented for this study. 09 patients were excluded; 4 patient were obese but no cholelithiasis or cholecystitis, 3 patients were not agree to investigations and 2 patients declined study). The remaining 50 patients, 29 females and 21 males, included for analysis. The median age was 48 with a range from 18-55. A literature review found evidence of increased risk of dyslipidemia which induce stone formation in GB and inflammation of gall bladder associated with obesity. Conclusion: It is an important issue that obesity is increasing in our new generations. This study should take into account for the future health care researcher. This study has summarized the current body of literature and added to it by demonstrating in our cohort that obese patients were at increased risk of formation of gallstones. I have also provided the evidence that patients with increased BMI with cholelithiasis or cholecystitis or other comorbidities are associated with significantly greater cost to the healthcare system.
ORIGINAL RESEARCH ARTICLE | July 10, 2024
The Associated Factors with the Occurrence of Patients Falling in a Government Hospital in Saudi Arabia: A Cross-Sectional Study of Nurses
Mohammad H. ALqrishah, Saad L. Alshahrani, Owais S. Numan
Page no 143-149 |
DOI: 10.36348/sjnhc.2024.v07i07.001
Introduction: Patient falls are a global concern that has been identified as one of the most common adverse events affecting patient safety in healthcare institutions around the world. In this study, factors associated with the occurrence of patients falling were investigated and classified into three categories: patient-related factors, environment conditions and nurse-related factors. Methods: The study was descriptive and cross-sectional. It was conducted between 15 February and 15 March 2024 in King Saud Medical City. A self-administered questionnaire was personally sent to staff nurses. The total nurses participating in the study was 504. Results: The most common factors leading to patient falls are wet floors, an absence of warning signs, a lack of safety grab bars, unsafe corridors, and a shortage of staff nurses, as well as distributing patients in different rooms, making it difficult to observe all of them simultaneously. Moreover, a patient who starts walking after an extended period in bed will be at increased risk of falling. Nurses also agreed that polypharmacy can be a risk factor for patient falls. Conclusion: The results present a clear picture of the various factors that healthcare professionals perceive as contributing to patient falls. Environmental conditions, operational issues and patient-related factors all play significant roles.
ORIGINAL RESEARCH ARTICLE | July 10, 2024
Project Management and Sensory Acceptance in Ready-To-Use Bakery Products: A Systematic Literature Review
Samuel Silva Xelhuantzi, José Carlos Hernández-González
Page no 312-322 |
DOI: 10.36348/sjet.2024.v09i07.006
Bakery nutritional products are limited in a global market considering the consumer preferences. Recent years have seen a surge in publications, especially in India and Latin America, reflecting nutritional and development of new products challenge, however, there are project management tools that could help in the development of new products because proactive approaches are necessary to navigate bakery product development complexities. Malnutrition and obesity pose global health challenges, elevating the importance of providing more nutritious bakery options. This systematic literature review explores the intersection of bakery product development with project management methodologies, emphasizing nutritional enhancement and consumer acceptance by the analysis of 69 articles from 2013 through 2024 from prestigious database such as Scopus and Redalyc to generate an overview for new future projects related to enhance the sector in Mexico. The study identifies multiple opportunities in bakery product research. The most researched products in this area are bread, cake, cookies and tortillas compared to pasta, pizza, pudding, waffles, etc. Additionally, only a quarter of articles explore new commercial prototypes, indicating significant potential for further development in this area.
ORIGINAL RESEARCH ARTICLE | July 9, 2024
Toxicological Assessment of Pesticide Exposure in Wistar Rats: An Acute and Sub-Acute Inhalation Study
Anthony Olalekan Akande, Titilayo O. Aladesanmi, Olumide Stephen Akinsomisoye, Oyedayo Phillips Akano
Page no 74-79 |
DOI: 10.36348/sjbr.2024.v09i05.002
Background: Pesticide ubiquity and extensive applications have attendant public health implications. This study examines the immediate and prolonged inhalation toxicity of various commonly used insecticides in male Wistar rats. Methods: 192 male Wistar rats were utilized and kept in regular housing. The study was carried out in three stages: a preliminary test, an acute test, and a sub-acute. Wistar rats, housed in an improvised chamber, were exposed to varying doses of insecticides in each phase to assess their toxicities to insecticides. For comparativeness, we withdrew 57 of the rats from exposure to ascertain possible recovery. The study included monitoring behavioral changes, recording mortality rates, and conducting necropsies to evaluate organ pathology. Dose-response relationships were analyzed to determine lethal doses (LD50) and potential sublethal effects. Results: Overall, we found a dose-related increase in the severity of the response, which potentially indicates an alteration of a specific biochemical process. The range-finding test assessed the effects of DD Force, Sniper, Industrial Camphor, Edible Camphor, Kerosene, and combined pesticides. It revealed significant physiological impacts followed by mortalities at specific dosage levels. Subsequent acute toxicity testing determined LC50 values for each insecticide. Rats showed a dose-dependent health deterioration following sub-acute exposure, particularly in the combined pesticide group, indicating synergistic toxicity. Conclusion: Exposure to the combined pesticide at high doses was associated with severe toxicities in the tested rats. This evidence suggests that commonly used pesticides could potentiate adverse health outcomes when results are extrapolated in humans.
ORIGINAL RESEARCH ARTICLE | July 9, 2024
An Impactful Health Fair in a Semi-Urban Community: Awolowo Town Case Study
Opreh Owigho Peter, Adeoye Bayo Olufunso, Obisanya Akintomiwa, Ukangwa Ngozi Angela, Oyeleke Ibukun Oyebimpe, Anthony G. S. Moore
Page no 235-241 |
DOI: 10.36348/sjm.2024.v09i07.004
Background: Even though most communities in developing countries understand the importance of disease prevention, they do not know how to do so. Beneficial programmes, like Health Fairs, even when relatively free, are often scorned. Understanding the importance of hypertension prevention in rural communities in developing nations is under-utilized. This study aimed to get the Awolowo community to come to terms with the benefits of an impactful Health Fair and generate convincing health information. It addressed how to motivate, generate interest and participate. Thus bridging knowledge gap and experience regarding disease prevention and medical screening. Methodology: This was a prospective study conducted over three days during a health fair at Awolowo town, Osun State, South-western Nigeria. A total of 178 Participants (18 years and above) were divided into three groups. Each group went through eight (8) different stations of specialized Health screening format. Blood pressure, Body mass index (BMI), and demographics were collected. Regression analyses was carried out on IBM SPSS (version 21) to examine the relationship between demographic features and blood pressure. Results: Our study found a high prevalence of pre-hypertension (41.6%) among participants. The study highlighted the rising rates of overweight (22.5%) and obesity (14%) in the population. Also, about 33% had hypertension, while increasing age was identified as a significant factor in its prevalence. The data demonstrates a strong correlation between obesity/overweight and hypertension. Conclusion: The specialized Health screening format and seminars/workshops served as motivation and interest generation. This should be adopted for similar studies. This study emphasizes the need for community interventions to address the growing prevalence of hypertension and obesity in Awolowo town and environ. Early diagnosis, heightened awareness, and lifestyle modifications are crucial approaches to mitigate health risks related to these conditions and enhance the overall health and well-being of the community.
ORIGINAL RESEARCH ARTICLE | July 9, 2024
Outcomes of Cystodistension for Bladder Pain Syndrome: A Monocentric Analysis
Abdelmounim Boughaleb, Reda Tariqi, Hussein Abdallah, Idriss Ziani, Imad Boualaoui, Ahmed Ibrahimi, Hachem El Sayegh, Yassine Nouini
Page no 242-246 |
DOI: 10.36348/sjm.2024.v09i07.005
Introduction: Bladder pain syndrome (BPS) is a chronic condition characterized by pelvic pain and urinary urgency/frequency. While the exact cause of BPS is unknown, various treatment options exist. This study aimed to evaluate bladder hydrodistension's short- and long-term efficacy in BPS patients. Methods: A retrospective analysis of four female BPS patients treated with bladder hydrodistension over 10 years was conducted. Symptoms, cystoscopy findings, and treatment outcomes were reviewed. Results: The average patient age was 40 years. All patients reported pain, with an average of 13 daytime and 3 nighttime urinary voids per day. Hydrodistension improved symptoms in 75% of patients, reducing daytime frequency and nocturia. Cystoscopy after hydrodistension revealed Hunner's ulcers in one patient and petechiae in three. One patient required a second hydrodistension. Transient worsening of symptoms and hematuria occurred in one patient each. Discussion: Bladder hydrodistension appears to be a safe and effective treatment for BPS, improving symptoms in most patients in our study. The findings are consistent with previous reports suggesting. Our study adds to the growing body of evidence supporting hydrodistension as a valuable tool in managing BPS. Conclusion: Bladder hydrodistension is a simple and minimally invasive technique that has proven its efficacy with a low complication rate. Our findings support the existing literature on the benefits of hydrodistension for BPS.
ORIGINAL RESEARCH ARTICLE | July 9, 2024
Development of Prediction Model for Oil Formation Volume Factor for Sudanese Crude Oil
Hassan Suliman, Ibrahim Elamin, Mohamed Ali
Page no 304-311 |
DOI: 10.36348/sjet.2024.v09i07.005
Understanding Oil Formation Volume Factor βo is crucial for effective oil field development, impacting well performance analysis, reservoir simulation, and production engineering calculations. Traditionally, βo is determined through costly and time-consuming laboratory tests, prompting the need for accurate mathematical correlations. Existing correlations such as Vasquez-Beggs, Standing-Glaso, and others have been widely used but show varying degrees of accuracy across different operating conditions. In this study, these correlations were evaluated against 95 datasets of experimental βo data for Sudanese crude oils. Statistical analysis revealed that Vasquez-Beggs and Standing- Glaso models performed best, with average absolute errors of 3.4219 and 3.4477, and correlation coefficients of 0.7563 and 0.7213 respectively. Motivated by the limitations of existing correlations, a new ap- proach using Polynomial Neural Networks (PNN) was developed. This model utilized reservoir temperature, gas gravity, gas oil ratio, and API as input parameters, trained on 70% of the dataset and tested on the remaining 30%. The PNN model exhibited superior predictive performance with a relative average absolute error of 2.8607 and a correlation coefficient of 0.9080. This study contributes a robust predictive tool for estimating βo in Sudanese oil fields, offering enhanced accuracy over traditional correlations and facilitating more reliable reservoir management decisions.
This paper delves into the rapidly evolving domain of Artificial Intelligence (AI), with a particular focus on Machine Learning (ML), a dynamic and influential subset of AI. It explores how ML empowers computers to learn from data, identify patterns, and make decisions with minimal human intervention. The manuscript examines the broad utility of ML across various real-world scenarios, emphasizing its critical role in enabling organizations to evolve and maintain a competitive edge in the fast-paced technological landscape. It discusses the necessity for organizations to adopt new ways of working and embrace the opportunities presented by AI to remain viable in the global, online marketplace. The paper reviews the evolution of ML, evaluates its advantages and disadvantages, and contemplates the future directions ML could lead organizations willing to integrate this powerful technology. The overarching theme is the transformative potential of ML in reshaping organizational strategies and operations for a more interconnected and intelligent future.
ORIGINAL RESEARCH ARTICLE | July 8, 2024
Prediction of Cerebral Palsy and Other Motor Developmental Trajectories in High-Risk Neonate Using the Rapid Neurodevelopmental Assessment (RNDA)
Dr. Laila Sharmin Diba, Major Dr. Md. Mofizul Islam, Dr. Naila Zaman Khan, Dr. Katherine Benfer, Dr. Razia Sultana, Dr. Umme Qulsum Sonia
Page no 427-435 |
DOI: 10.36348/sjmps.2024.v10i07.002
Background: Cerebral Palsy (CP) is a prevalent motor disability affecting children globally, emphasizing the need for early identification and intervention. The Rapid Neurodevelopmental Assessment (RNDA) offers a comprehensive approach to predict CP and other motor developmental trajectories in high-risk neonates. Objective: This longitudinal cohort study aims to evaluate the effectiveness of RNDA in predicting CP and motor developmental trajectories. Method: Seventy term neonates from Dhaka Shishu (Children) Hospital were included, with neurodevelopmental assessments conducted using RNDA. Assessments were performed at 3 months and 6-9 months, with CP evaluation at 12 months using clinical examinations. Results: Prolonged labor (44.3%) and delayed cry after birth (31.4%) were common among the study patients (n=70), with varying modes of delivery including normal vaginal delivery (50.0%), vaginal delivery with complications (12.9%), and lower uterine cesarean section (37.1%). Muscle tone, primitive reflexes, gross and fine motor skills, epilepsy, and microcephaly were evaluated across visits to identify impending CP. Significant associations were found between hypertonicity, primitive reflex impairment, gross motor impairment, and fine motor impairment with impending CP across visits, particularly in the 3rd visit (p<0.05). Sensitivity, specificity, accuracy, and predictive values varied across parameters and visits, with fine motor skills and gross motor skills showing the highest sensitivity in the 3rd visit (86.4% and 100.0%, respectively). Additionally, abnormal EEG, USG of the brain, and MRI findings were significantly associated with impending CP, with USG of the brain demonstrating the highest sensitivity (93.3%) and MRI showing the highest specificity (70.0%). Conclusion: RNDA emerges as a valuable tool for early prediction of CP and motor developmental trajectories in high-risk neonates. Early identification through RNDA facilitates timely interventions, optimizing long-term neurodevelopmental outcomes.
ORIGINAL RESEARCH ARTICLE | July 8, 2024
Closed Reduction and Percutaneous Cross K-wire Fixation: Management of Displaced Supracondylar Fracture of the Humerus (Gartland Type-III) in Children
Dr. Ananta Kumar Bhakta, Dr. Md. Ziaur Rahman, Dr. Husni Mobarok, Dr. Sree Ashok Kumar, Dr. Md. Humayun Kabir, Dr. Sheikh Md. Sheikh Sadi, Dr. Syed Muhammad Sahid, Dr. Pankoj Kanti Mondol
Page no 447-454 |
DOI: 10.36348/sjmps.2024.v10i07.004
Introduction: Supracondylar fractures of the distal humerus, occurring just above the elbow joint, are the most common pediatric fractures around the elbow, accounting for 60-70% of all elbow injuries in children. Methods: This prospective observational study, conducted from June 2023 to May 2024 at NITOR, Dhaka, Bangladesh, focuses on managing displaced supracondylar fractures (Gartland Type-III) in children. Result: The average age of the patients in the study is reported as 6.5 years. The number and percentage of male and female patients are presented, with a total of 17 males (56.7%) and 13 females (43.3%) respectively. The average time for radiographic healing of the fractures was 5.2 weeks. Satisfactory radiographic outcomes were observed in 28 patients (93.3%), indicating favorable radiographic evidence of fracture healing and alignment. K-wires were typically removed around the 1-month mark postoperatively, once radiographic healing was confirmed and satisfactory outcomes were achieved. Conclusion: In conclusion, our study supports the efficacy and safety of closed reduction and percutaneous cross K-wire fixation for treating displaced supracondylar fractures of the humerus in children.
ORIGINAL RESEARCH ARTICLE | July 8, 2024
Clinical Study of HELLP Syndrome and It's Outcome at Pravara Rural Hospital, Loni
Dr Pragya Isser, Dr Sai Borawake
Page no 284-288 |
DOI: 10.36348/sijog.2024.v07i07.001
Background: HELLP syndrome, a severe pregnancy complication characterized by hemolysis, elevated liver enzymes, and low platelet count, occurs in 0.5 to 0.9% of all pregnancies and in 10–20% of severe preeclampsia cases. It poses significant risks to both mother and fetus, presenting diagnostic and therapeutic challenges. Patients often experience epigastric or right upper quadrant pain, hypertension, proteinuria, fatigue, nausea, vomiting, sudden weight gain, and headaches. HELLP syndrome typically occurs in the second and third trimesters (27-37 weeks) and 15–30% of cases present postpartum. The exact causes remain unclear but may involve placental origins, autoimmune factors, gene mutations, or fatty acid oxidation disorders. Aims and Objectives: To analyze the clinical profile of HELLP syndrome cases and to assess maternal and perinatal outcomes, including morbidity and mortality. Material and Methods: This prospective cross-sectional study was conducted in the Obstetrics and Gynecology department at Pravara Rural Hospital, Loni, involving 45 patients with severe preeclampsia and eclampsia above 28 weeks of gestation diagnosed with HELLP syndrome. Patients were admitted to the ICU, and detailed histories and examinations were recorded. Patients were divided into two groups: those with HELLP syndrome (Group A) and those without (Group B). Results: Group A had a higher representation in the 20-22 age bracket, while Group B had more members aged 22-24. Cesarean sections were more common in Group A, whereas vaginal deliveries were more frequent in Group B. Blood pressure readings were higher in Group A. Maternal complications, such as abruption placentae, DIC, hepatic infarction, acute renal failure, and ascites, were more frequent in Group A, as were neonatal complications like IUGR, preterm delivery, neonatal thrombocytopenia, and RDS. Conclusion: The study reveals significant differences between patients with and without HELLP syndrome. Group A included younger patients, more first-time mothers, and a higher incidence of complications and mortality. These findings highlight the need for tailored management strategies for severe preeclampsia/eclampsia, especially in those with HELLP syndrome, to improve maternal and neonatal outcomes.
ORIGINAL RESEARCH ARTICLE | July 8, 2024
Hypothyroid Patients Show Significant Association with Antithyroid Antibodies: A Cross Sectional Study in Khulna
Dr. Utpal Kumar Chanda, Dr. Manika Rani Kundu, Dr. MD. Mijanur Rahman Sardar, Dr. Shatabdi Mallick, Dr. Palash Tarafder, Dr. Muhammed Arshad- UL- Azim, Dr. Nripendra Nath Biswas
Page no 228-234 |
DOI: 10.36348/sjm.2024.v09i07.003
Background and Objectives: A high prevalence of thyroid disorder is found worldwide and it is a serious public health problem. A community‑based investigations showed that; overall occurrence of thyroid disease was 20.43%, highest incidence of diffuse goiter (7.35%), followed by sub-clinical hypothyroidism (6.59%), hypothyroidism (4.97%), hyperthyroidism (0.86%) and sub-clinical hyperthyroidism (0.65%) in Khulna, Bangladesh. Antithyroid autoantibodies are one of the most important causes of thyroiditis resulting hypothyroidism. The aim of this study was to investigate the prevalence of antithyroid antibody to hypothyroid patients in Khulna region. Methods: This cross‑sectional study was done on Hypothyroid patients of Khulna Medical College Hospital and Institute of Nuclear Medicine and Allied Science (INMAS), Khulna, from July 2023 to December 2023. After having informed written consent of adult sixty hypothyroid patients, was interviewed and examined the blood sample for relevant information; data recorded in a preformed, semi-structured data collection sheet (Patient particulars form) and analyzed. Results: About 20 percent had positive family history of hypothyroidism, 27 percent patient was associated with other autoimmune diseases and about 80 percent was associated with anti-thyroid antibody. Out of the sixty hypothyroid patients about fifty percent was obese, eighty percent was female of 30-60 years age group. Ninety percent of them belongs to poor socioeconomic conditions and came from rural area of Khulna district. Conclusions: Most of the patients were rural female of low socioeconomic back ground of reproductive age groups. There was very significant association of anti-thyroid antibody with these patients. They also associated with chronic autoimmune diseases and poverty.
ORIGINAL RESEARCH ARTICLE | July 8, 2024
Clinical Presentation of Sudanese Patients with Breast Cancer
Galeela Abdalgader Salem, Balgis Elhag Ibrahim Tager, Rabaah ALadawya Mohammed Salih Elbasheri Gadkreem, Fadwa Ismail Guma Kortukala, Salma Suleiman Hassan, Maha Elrsheed barky, Nada Mohammed Salih Omer Adam, Mohamed Mahgoub Hassan Khalifa, Adam Ahmed Ishag Younis, Mohamed Mergani Elkhair, Abdulrahman Mohammed Abdulrahman Abouh, Ahmed Abdullah Agabeldour, Hussain Gadelkarim Ahmed
Page no 68-73 |
DOI: 10.36348/sjbr.2024.v09i05.001
Background: Breast cancer with advanced stages at a young age is a significant new challenge in Sudan. The purpose of this study was to determine the most common presentations of breast cancer patients in western Sudan. Methodology: For this retrospective descriptive investigation, materials for 183 breast cancer patients were obtained from two histopathology centers (Kordofan histopathology center and El-Obeid International Hospital). A full coverage sample was collected, spanning from January 2019 to May 2024. All data pertaining to the patient's essential identifying, clinical, and histological data were gathered. Results: This study looked at 183 breast cancer patients (177 (96.7%) women and 6 (3.3%) men). Their ages ranged from 20 to 90, with a mean ± standard deviation of 50.78 ± 13.6 years. The majority of participants were aged 41-50 years, followed by ≥61 and 51-60 years, with 50/183 (27%), 43 (23%), and 35 (19%), respectively. For clinical appearance, the most common skin change was unremarkable, followed by ulcerated skin change, which accounted for 127/183 (69%) and 48 (26%) respectively. Conclusion: Breast cancer with advanced stages upon presentation is common in Sudan. The majority of patients presented at a younger age and had distinct initial manifestations.