Prof. Maged Refaat
Professor of Medicine, Allergy and Clinical Immunology, Ain Shams University, Egypt.

Short Biosketch

ISBN 978-81-968656-2-7 (Print)
ISBN 978-81-968656-0-3 (eBook)
DOI: 10.9734/bpi/acmmr/v9

This book covers key areas of medicine and medical research. The contributions by the authors include cardiovascular pathologies, climatic variations, morbidity and mortality, leiomyosarcoma, mandibular gingival, oral cavity, pseudo sarcomatous, metastasis, medical education, medical curriculum, learning assessments, teaching and learning resources, anxiety disorders, serotonin reuptake inhibitors, panic disorder, contact dermatitis, hypersensitivity, percutaneous nephrolithotomy, renal calculi, nephrolithotomy, nephroscopy, Craniovertebral junction, CVJ anomalies, vertebral fusion defects, OS odontoideum, atlantoaxial subluxation, breast cancer, achromatopsia, molecular genetics, fundoscopy, phototransduction, photoreceptors, phototransduction, oncological therapeutics, tumor microenvironment, thrombocythemia, myeloproliferative neoplasm, myelofibrosis, thrombocythemia, immune checkpoint inhibitor therapy, next generation ICI, primary myelofibrosis. This book contains various materials suitable for students, researchers and academicians in the field of medicine and medical research.


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Primary Leiomyosarcoma of the Mandibular Gingiva

Bourazani M., Skiadas S. , Gkanasouli D. , Zanakis S.

Advanced Concepts in Medicine and Medical Research Vol. 9, 27 December 2023, Page 1-10

Leiomyosarcoma (LMS) is a malignant neoplasm, which originates from smooth muscle. Primary oral LMS is an exceptionally rare lesion, often associated with poor prognosis. The most common symptom of oral LMS is presented as a painless mass. We present a case of oral LMS in the anterior mandibular gingiva, with an uncommon clinical appearance in an no prevalent anatomic site. Moreover, this case presents difficulties in the histopathologic diagnosis of the incisional biopsy, which referred to the lesion as pseudosarcomatous. The treatment of choice is radical surgical resection; however, adjuvant radiotherapy and chemotherapy may also have a beneficial effect

A Case Report on Multiple Developmental Craniovertebral Junction Anomalies Associated with Fusion of the Third and Fourth Cervical Vertebrae

Himanshu Mishra , Amit Kumar , Hitnarayan Prasad , Sanjay Kumar Suman

Advanced Concepts in Medicine and Medical Research Vol. 9, 27 December 2023, Page 11-19

This chapter discusses multiple developmental craniovertebral junction anomalies associated with fusion of the third and fourth cervical vertebrae. Craniovertebral junction (CVJ) is formed by the occipital condyles of the skull, atlas (C1), and axis (C2). CVJ anomalies are a complex group of disorders with a variable course and complicated line of management. A cross-sectional imaging is indispensable for the evaluation of CVJ as it may unmask pathologies unsuspected by clinical evaluation and conventional radiography. A 25-year-old male patient presented with complaints of low- grade neck pain, weakness of both the lower limbs, and fecal incontinence. According to the patient, the symptoms began at the age of 13 years and had progressed gradually, so that, now, he was bedridden for 6 months. The multiple developmental CVJ anomalies include fusion defects of anterior and posterior arches of C1, os odontoideum, atlantoaxial subluxation (with compression of the cervical cord at the cervicomedullary junction), and fusion of C3 and C4 vertebral bodies as well as posterior elements.

This chapter is intended to identify the issues and challenges of medical education in Somalia.  Improving medical education has been aspirational aim for the countries around the world over the past century to realize the universal health coverage. Through the continuous endeavors of the world countries and their learning institutions, tremendous advances have taken place in the field of medical education over the last five decades. However, being a low-resource and fragile country afflicted by protracted social conflicts and political fragmentation, Somalia faced difficulties in establishing its medical education institutions. Therefore, the study was conducted in Medical Universities & Colleges in Somalia between February to April 2021 using a cross-sectional study design and 384 individuals were selected for this study. An author-developed questionnaire and interview guide was utilized as data collection tools. The questionnaire was designed for the teaching staff who were involved in medical teaching and learning process to address the demographic characteristics, education qualifications, teaching strategies employed of the facilitators, while the interview guide was developed for medical education managers and policy makers to identify administrative challenges in medical education. The respondents of the study were selected through purposive sampling. The collected quantitative and qualitative data were analyzed using SPSS and NVIVO software packages, respectively. A descriptive analysis was undertaken using frequency and percentages for the categorical variables with SPSS version 25.0 while thematic analysis was employed with NVIVO version 12 for non-categorical qualitative variables.

Results: In the sample of 384 participants, 311 males and 73 females were included in the study with mean age 33 years. Most of them had master’s degree and average teaching experience of 5 years. Majority of medicine and health sciences institutions were private-owned operating in rented campuses. The study revealed a significant correlation between the type of institution, staff employment type, student selection policy, ownership of the campus, and employee satisfaction with current salary.  On the other hand, it was also found that the medical education in Somalia faces some major challenges including shortage of trained competent lecturers, lack of relevant medical curricula, shortage of teaching/learning resources, lack of government oversight & licensing and lack of higher education policies.  Therefore, it is concluded that Somalia needs to incorporate a competency-based curriculum, improve the availability of teaching and learning resources, provide training to medical teachers on teaching approaches, and increase investment in research in this field. 

This chapter reveals the impact of seasonal climatic variations on cardiovascular pathologies at HNABD. Cardiovascular disease (CVD) refers to the disorders that affects the heart and blood vessels. It is an important public health issue because they constitute the most reported cases for death across the world. This is a prospective and comparative study which has done over four months between the cold season (January- February) and the hot season (April-May) 2016. It took place over four months in the HNABD medicine- cardiology department. The study population consists of all patients hospitalized in the department during the period. It concerned 258 patients hospitalized in the medicine-cardiology department during this period in whom the diagnosis of cardiovascular pathologies has been made. Through this work, we have studied the epidemiological, clinical, paraclinical, therapeutic, evolutionary aspects and finally the impact of climatic and seasonal variations on cardiovascular pathologies. Data collection was manual, through providing an individual survey form. Data analysis and processing were carried out using Word 2010, EXCEL 2010, CSPro6.2, IBM SPSS 20.

Epidemiologically, cardiovascular pathologies account for 55.60% of admissions to the department. We note a male predominance with 53.10% against 46.90% for the female sex. The average age was 55.17 years. The age group over 60 years is the most affected with 54.25%. The cardiovascular disease admission rate was 43.41% in the cold season compared to 56.59% in the hot season. Clinically, the most frequent diagnoses were heart failure, stroke and hypertension with 47.28%, respectively; 24.03%; and 8.91%. From a therapeutic standpoint, the protocol used is largely based on diuretics, CE inhibitors and antiplatelet agents. From an evolutionary standpoint, the course is favorable in 81.79% of patients. The death rate is 14.34% with a peak of deaths during the hot season. Thus we found 24 deaths, a mortality rate of 16.43% and 64.86% of total deaths in the hot season. Indeed, the temperature rises lead to an increase in admissions but also in mortality linked to cardiovascular diseases. In conclusion, it was mentioned that the climate could play an important role in the morbidity and mortality of cardiovascular pathologies with seasonal variations depending from abruptness of the variation, the gap of this variations, the age of the patients, the cardiovascular status and its past medical history and some environmental factors. Therefore, the world should unite to galvanize action towards solutions for climate adaptation putting Health at the Center of the Climate Agenda.

This chapter aims to assess knowledge, attitude and practices towards breast cancer among female students in the study setting. Breast cancer is the most common type of cancer among women and the second most common malignancy in both developed and developing nations. The case of its incidence is rising because of increased life expectancy of people, increased urbanization and adoption of unhealthy lifestyles. An awareness of breast cancer and its presentation are essential among women for detection at an early stage and timely treatment for better prognosis.

A cross-sectional study was conducted for a duration of 3 months from July-September 2018 among female students at a Government degree college in Koppal city, Karnataka, India. Minimum sample size calculated was 256 with an absolute precision of 5% and significance level of 0.05, taking 80% prevalence of awareness on Breast cancer as per recent estimates and data was collected using a pre-tested and semi structured questionnaire after taking an informed consent. Collected data were analyzed using Microsoft Office Excel version 2013.

More than 80% of study participants had heard about breast cancer in the present study but their knowledge on various aspects of Breast cancer was limited. More than half of them were positive in their attitude believing that they are not at risk of Breast cancer and were willing to practice Breast self-examination (BSE) in future but only 5.28% of them admitted to have done BSE in the past. Most common source of information about disease was school in comparison to tv, social media, etc. in the present study.

The present study concludes that the level of knowledge among female graduate students about Breast cancer was poor and identifies several areas where Educational interventions are necessary. Even though majority had positive attitude both towards disease and practice of BSE only few practiced BSE which needs to be tackled   through Behavior change communication (BCC).

Neurophysiological Commonalities and Differences Across Obsessive- Compulsive, Panic, Phobic and Generalized Anxiety Disorders

Montserrat Gerez, Enrique Suárez , Carlos Serrano , Lauro Castanedo , Armando Tello

Advanced Concepts in Medicine and Medical Research Vol. 9, 27 December 2023, Page 73-105

Disorders characterized by anxiety (AD) have been among the leading causes of global health-related burden for over 30 years. Prevalence has increased despite strong evidence of effective therapeutic interventions in transversal group studies, partly because of a high rate of recurrences and decreased responses in long-term individual histories.

Comorbidity and pharmacological response among obsessive-compulsive (OCD), agora, social, and specific phobias (SD), panic (PD) and generalized anxiety (GAD) disorders suggest a single dimension: serotonin-dysfunction. Yet, psychiatric classifications conceptualize those entities as distinct, with strong support from various neuroscience fields.

Understanding and targeting physiopathogenic mechanisms may improve the long-term therapeutic response, particularly when social, psychological, and biological factors are combined in most affected subjects, loading differently across individuals, but somewhat clustering by nosological entities.

The primary purpose of this chapter is to examine for neurophysiological dysfunctions shared by, or different among PD, SAD, OCD and GAD.

A sample population of 192 unmedicated patients and 30 aged-matched controls partook in this study. Ten independent factors have included in Hypothesis- related neurophysiological variables. Contingency tables and correspondence analysis75 with chi-square tests were used to describe the sample distribution and relation to clinical groups of the three categorical factors: EPI, cROI and side (Fig. 1; Table 3), Fisher linear discrimination for the quantitative ones The nonparametric analysis correctly classified 81% of the sample. Dysrhythmic patterns, decreased delta, and increased beta differentiated AD from controls. Shorter ERP latencies were found in several individual patients, mostly from the OCD group. Hyperactivities were found at the right front orbital-striatal network in OCD and at the panic circuit in PD. Our findings support diffuse cortical instability in AD in general, with individual differences in information processing deficits and regional hyperactivities in OCD and PD. This study findings suggest that neurophysiology can be used to identify ongoing dysfunctions, their relative weights and their interactive patterns on a moment-to-moment basis.

The Philadelphia chromosome-negative (Ph-) myeloproliferative neoplasms (MPNs), encompassing essential thrombocythemia (ET), polycythemia vera (PV), and myelofibrosis (MF), represent a group of persistent and well-documented hematological disorders. These conditions are typified by aberrant proliferation of one or more hematopoietic cell lineages within the body’s stem cells, culminating in organomegaly and the emergence of constitutional symptoms. A plethora of research has substantiated that the etiology of these maladies is intricately linked to immune system dysregulation and chronic inflammation, both of which play pivotal roles.

Recent advancements in oncological therapeutics, particularly in hematological malignancies, have been directed towards modalities targeting the immune system, the cytokine milieu, immunotherapeutic agents, and specialized immune therapies. Immune checkpoints, which are crucial regulators of T cell functionality within the tumor microenvironment (TME), include primary checkpoints such as programmed cell death-1 (PD-1)/programmed cell death ligand-1 (PD-L1), and cytotoxic T-lymphocyte antigen-4 (CTLA-4). Immune checkpoint inhibitor therapy (ICIT) revolutionizes cancer treatment by obstructing the inhibitory pathways in T cells. Despite the remarkable clinical achievements of ICIT, intrinsic tumor resistance remains a formidable challenge for oncologists, manifesting as suboptimal response rates in both solid tumors and hematological malignancies.

A Phase II clinical trial (Identifier: NCT02421354) investigating the efficacy of nivolumab, a PD-1 blockade agent, in patients with post-essential thrombocythemia myelofibrosis, primary myelofibrosis, or post-polycythemia myelofibrosis was initiated but prematurely terminated due to adverse events and insufficient efficacy. Concurrently, a multicenter, Phase II, single-arm open-label study involving pembrolizumab in patients with primary thrombocythemia, post-essential thrombocythemia, or post-polycythemia vera myelofibrosis, who were ineligible for or had previously received ruxolitinib treatment, was conducted. This study concluded that while pembrolizumab administration was not associated with significant adverse events, it failed to elicit meaningful clinical responses, leading to its discontinuation after the initial stage.

In light of these outcomes, the focus in immunotherapy has shifted towards novel immune checkpoints within the TME, such as lymphocyte activation gene-3 (LAG-3), T cell immunoglobulin and mucin domain 3 (TIM-3), T cell immunoglobulin and ITIM domain (TIGIT), V-domain immunoglobulin-containing suppressor of T cell activation (VISTA), and human endogenous retrovirus-H long terminal repeat-associating protein 2 (HHLA2). These are forming the foundation for the next generation of ICIT. The primary objective of this discourse is to highlight and explicate the importance of next-generation ICIT in the context of MPN. Specifically, this article seeks to investigate the potential of monoclonal antibodies as targeted immunotherapy and the development of vaccines targeting specific MPN epitopes, aiming to enhance tumor-related immune responses. It is projected that these immunotherapy-based therapeutic strategies will not only broaden but also refine the treatment spectrum for MPN patients. Preliminary investigations in our laboratory have revealed over-expression of MDSC and VISTA in MDSC, progenitor, and immune cells, underscoring the necessity for additional clinical trials employing next-generation ICIs in MPN management.

This chapter reports the cases of two siblings (8 and 5 years old) who were diagnosed with achromatopsia after genetic analysis. Achromatopsia (rod monochromatism) is a rare autosomal recessive form of cone dysfunction that is characterized by a near normal fundus appearance, nystagmus, a nonrecordable photopic ERG, and normal to near normal scotopic ERG that remains stable. The genetic approach for these patients is currently an important issue, and gene therapy is an ongoing therapeutic option already being studied in clinical trials.

We report the case of two siblings (8 and 5 years old) affected by achromatopsia. They carry compound heterozygous mutations in the CNGA3 gene at positions 1306 and 1279 in exon 8 (c.136C> T,  p.Arg436Trp and c.1279C> T, p.Arg427Cys).

Genetic testing is crucial to confirm the diagnosis in such cases. Molecular genetic testing approaches that can be considered include targeted analysis for common variants, the use of a multigene panel, or comprehensive genomic testing, typically exome sequencing. The parents were found to have one of the variants in a heterozygous condition. This is the first reported case of achromatopsia in India.

This report highlights the significance of genetic testing even more. It emphasizes that exome sequencing is a better diagnostic strategy when paired with standard testing, especially for disorders like achromatopsia and others where misdiagnosis might occur from depending only on clinical examinations. 

The objective of the study was to find out patch test positivity rate in the specific region in patients with suspected allergic contact dermatitis (ACD) so that proper management of the patients can be done. Contact dermatitis is an inflammatory condition of the skin after exposure to any exogenous substance. It can be classified as irritant contact dermatitis (ICD) and allergic contact dermatitis (ACD). For evaluating the patch test positivity rate, a cross-sectional study was arranged in Mahatma Gandhi Hospital. This was done over a period of 3 months duration from March-May 2016. The number of participation was 68 who were suspected of contact dermatitis. All the patients were patch tested using the Indian Standard Series consisting of twenty common contact allergens which is approved by Contact and Occupational Dermatoses Forum of India (CODFI). The most common allergen found to be positive in both males and females was Parthenium followed by fragrance mix. Patch testing should be kept in mind when dealing with cases of suspected ACD, anogenital dermatitis, delayed hypersensitivity type cutaneous adverse drug reactions and specific site chronic dermatitis.

Comparative Overview on Standard and Tubeless Percutaneous Nephrolithotomy for Renal Calculi

Manu Muraleedharan Kamalakshi , Vasantharaja Ramasamy, Darsan Sadasivan, Sunil Raveendran, Selvam Paramasivam , Venugopal Ganapathy

Advanced Concepts in Medicine and Medical Research Vol. 9, 27 December 2023, Page 172-182

This chapter prospectively compared the outcome of tubeless PCNL (without nephrostomy drainage tube) to reduce the pain and discomfort caused by tube with standard PCNL in the treatment of renal stones. Percutaneous nephrolithotomy (PCNL) is the cornerstone of treatment for renal stones larger than 2 cm in the present era of minimally invasive treatments. PCNL saw a number of evolutionary developments that reduced patient morbidity.

We conducted this prospective randomized control trial in the Department of Urology, Government medical college, Trivandrum, Kerala, South India during the period of July 2018 to April 2019 (10 months).

Patient's age, gender, sides of stone and stone size were comparable between two groups (standard versus tubeless PCNL).

Postoperative hemoglobin drop, bleeding, pyrexia, urine leak, and blood transfusion requirement did not show a statistically significant difference between the two groups. Postoperative urine leak and pyrexia were seen in only one patient in the standard PCNL group and none in the tubeless PCNL group showing statistically insignificant results. Analgesic requirement (190 mg versus 80 mg of tramadol), operative duration (49.80 min versus 38.60 min), postoperative pain score (6/10 versus 3.64/10-visual analog scale) and duration of hospital stay (68.48 hours versus 41.12 hours) showed statistically significant difference favoring tubeless PCNL.

Tubeless PCNL although showed promising results overall less morbidity in our trial should be preferred only in carefully selected patients with no residual stones, no bleeding or injury, no complex stone or abnormal kidney anatomy to avoid any complications postoperatively.