Classes
Immunodeficiencies in children
What is immunodeficiency? What does it cause? How do you suspect from immunodeficiency? Is it congenital, hereditary or acquired? What types are there? Case 1 (AT) A problem-based learning case being discussed in class regards an immunodeficiency disorder involving a 12-year-old boy. Shortly after he began walking, he developed worsening instability and imbalance until he was eventually confined to a wheelchair at 9 years of age. Additionally, he developed oculocutaneous telangiectasias beginning at approximately 3 years of age. During the discussion of this patient’s case, it is added that such patients commonly have chronic sinopulmonary disease and also have a high incidence of malignancy, particularly lymphoreticular malignancies. What is the mechanism of action responsible for this patient’s condition? (A) Absent respiratory burst (B) Blocked lysosomal trafficking (C) Defective DNA repair (D) Defects in peroxisome function (E) Impaired toll-like receptor signaling Case 2: (WAS) A 26-month-old boy, the first child of nonconsanguineous parents, was previously diagnosed as chronic immune thrombocytopenic purpura. Hb 11.7 WBC 4000 Plt 40 000 He was referred to our clinic with recurrent bruising and petechial lesions since 3.5 months of age. He had received prednisolone and intravenous immunoglobulin treatments. He had accompanying mild transient eczema together with early onset of thrombocytopenia and small platelets. Case 3: (SCID) A seven months old male infant born of non-consanguineous marriage presented with recurrent oral ulcers, fever along with failure to thrive since 4 months. He had macular rash over face and chest since 1 month. He had been hospitalized for pneumonia 15 days back. He was a full term normal vaginal delivery and birth weight was 3.1 kg. His elder 2 sisters were completely asymptomatic. He had been immunized till date and milestones were normal. On examination, he had pallor with hypo-pigmented macules over neck and perianal region. On examination of oral cavity, tonsils were absent. On systemic examination, he had hepatosplenomegaly. Due to absent tonsils with recurrent infections and failure to thrive, he was suspected to be suffering from a Primary Immunodeficiency. His hemogram showed hemoglobin of 9.2 mg/dl with WBC count of 15,000/cumm [76% polymorphs, 8% Band Forms and 16% lymphocytes] with absolute lymphocyte count of 2400/cumm suggestive of lymphopenia and ESR of 12mm at end of 1 hour. His renal function test, liver function tests, urine and stool examination were normal. His urine culture was suggestive of candida albicans. X-Ray Chest revealed no thymic shadow. His HIV ELISA was negative. His serum immunoglobulins were all elevated [S. IgA = 100 mg/dl, S. IgG = 1426 mg/dl, S. IgM = 160 mg/dl] and CD panel by flow cytometry was suggestive of T- B+ NK- severe combined immunodeficiency most likely X-linked variant [CD3 = 20 cells/cumm, CD4 = 21 cells/cumm, CD8 = 24 cells/cumm, CD19 = 330 cells/cumm, CD20 = 437 cells/cumm, CD56 = 66 cells/cumm, CD16 = 630 cells/cumm]. He was treated with Intravenous Fluconazole and advised regarding Bone Marrow Transplant. In view of oral ulcers, skin rash along with hepatosplenomegaly he was suspected as a case of Graft versus host disease due to engraftment of maternal T cells. However it could not be confirmed by HLA testing as parents were not willing for the same. Discussion Severe combined immunodeficiency (SCID) is characterized by abnormal T and B cell function from birth. It is the severest of all congenital immunodeficiencies and unless immunologic reconstitution is achieved through bone marrow transplantation or enzyme replacement, death usually occurs by 2 years of age (1). Several types of SCID have been identified and clinically classified as T-B+ or T-B- SCID depending on affection of B cells. T cells and subsets are low to absent in all types. X linked SCID is the commonest form of SCID and patients present as T-B+ NK- SCID (decreased T cells, normal B cell quantity and low Non-Killer cells) as was seen in our patient. Males are affected. Affected infants present with frequent episodes of diarrhea, pneumonia, sepsis and cutaneous infections within first few months of life. Failure to thrive after infections is common. Viral infections such as Varicella, Measles, Parainfluenzae, CMV, Epstein Barr Virus and fungal infections such as Candida, Pneumocystis Carinii (PCP) are common. Our patient had a candidial urinary tract infection. BCG vaccine can lead to disseminated TB. Infants lack the ability to reject foreign tissue and hence are at risk for graft-versus-host disease from maternal immunocompetent T cells or from T cells in non-irradiated blood transfusion or allogenic bone marrow transplant. Thymus tissue is hypoplastic and hypoplasia of adenoids, tonsils and peripheral lymph nodes is seen as was seen in our patient. Investigations reveal profound lymphopenia with diminished serum immunoglobulins and no antibody formation following investigation. Antibody levels may initially be normal due to passively transferred maternal antibodies. Analysis of lymphocyte subpopulation helps to identify the type of SCID (3). Treatment consists of bone marrow transplant. Gene therapy with enzyme replacement is useful in ADA deficient SCID . 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Immunodeficiencies in children
What is immunodeficiency? What does it cause? How do you suspect from immunodeficiency? Is it congenital, hereditary or acquired? What types are there? Case 1 (AT) A problem-based learning case being discussed in class regards an immunodeficiency disorder involving a 12-year-old boy. Shortly after he began walking, he developed worsening instability and imbalance until he was eventually confined to a wheelchair at 9 years of age. Additionally, he developed oculocutaneous telangiectasias beginning at approximately 3 years of age. During the discussion of this patient’s case, it is added that such patients commonly have chronic sinopulmonary disease and also have a high incidence of malignancy, particularly lymphoreticular malignancies. What is the mechanism of action responsible for this patient’s condition? (A) Absent respiratory burst (B) Blocked lysosomal trafficking (C) Defective DNA repair (D) Defects in peroxisome function (E) Impaired toll-like receptor signaling Case 2: (WAS) A 26-month-old boy, the first child of nonconsanguineous parents, was previously diagnosed as chronic immune thrombocytopenic purpura. Hb 11.7 WBC 4000 Plt 40 000 He was referred to our clinic with recurrent bruising and petechial lesions since 3.5 months of age. He had received prednisolone and intravenous immunoglobulin treatments. He had accompanying mild transient eczema together with early onset of thrombocytopenia and small platelets. Case 3: (SCID) A seven months old male infant born of non-consanguineous marriage presented with recurrent oral ulcers, fever along with failure to thrive since 4 months. He had macular rash over face and chest since 1 month. He had been hospitalized for pneumonia 15 days back. He was a full term normal vaginal delivery and birth weight was 3.1 kg. His elder 2 sisters were completely asymptomatic. He had been immunized till date and milestones were normal. On examination, he had pallor with hypo-pigmented macules over neck and perianal region. On examination of oral cavity, tonsils were absent. On systemic examination, he had hepatosplenomegaly. Due to absent tonsils with recurrent infections and failure to thrive, he was suspected to be suffering from a Primary Immunodeficiency. His hemogram showed hemoglobin of 9.2 mg/dl with WBC count of 15,000/cumm [76% polymorphs, 8% Band Forms and 16% lymphocytes] with absolute lymphocyte count of 2400/cumm suggestive of lymphopenia and ESR of 12mm at end of 1 hour. His renal function test, liver function tests, urine and stool examination were normal. His urine culture was suggestive of candida albicans. X-Ray Chest revealed no thymic shadow. His HIV ELISA was negative. His serum immunoglobulins were all elevated [S. IgA = 100 mg/dl, S. IgG = 1426 mg/dl, S. IgM = 160 mg/dl] and CD panel by flow cytometry was suggestive of T- B+ NK- severe combined immunodeficiency most likely X-linked variant [CD3 = 20 cells/cumm, CD4 = 21 cells/cumm, CD8 = 24 cells/cumm, CD19 = 330 cells/cumm, CD20 = 437 cells/cumm, CD56 = 66 cells/cumm, CD16 = 630 cells/cumm]. He was treated with Intravenous Fluconazole and advised regarding Bone Marrow Transplant. In view of oral ulcers, skin rash along with hepatosplenomegaly he was suspected as a case of Graft versus host disease due to engraftment of maternal T cells. However it could not be confirmed by HLA testing as parents were not willing for the same. Discussion Severe combined immunodeficiency (SCID) is characterized by abnormal T and B cell function from birth. It is the severest of all congenital immunodeficiencies and unless immunologic reconstitution is achieved through bone marrow transplantation or enzyme replacement, death usually occurs by 2 years of age (1). Several types of SCID have been identified and clinically classified as T-B+ or T-B- SCID depending on affection of B cells. T cells and subsets are low to absent in all types. X linked SCID is the commonest form of SCID and patients present as T-B+ NK- SCID (decreased T cells, normal B cell quantity and low Non-Killer cells) as was seen in our patient. Males are affected. Affected infants present with frequent episodes of diarrhea, pneumonia, sepsis and cutaneous infections within first few months of life. Failure to thrive after infections is common. Viral infections such as Varicella, Measles, Parainfluenzae, CMV, Epstein Barr Virus and fungal infections such as Candida, Pneumocystis Carinii (PCP) are common. Our patient had a candidial urinary tract infection. BCG vaccine can lead to disseminated TB. Infants lack the ability to reject foreign tissue and hence are at risk for graft-versus-host disease from maternal immunocompetent T cells or from T cells in non-irradiated blood transfusion or allogenic bone marrow transplant. Thymus tissue is hypoplastic and hypoplasia of adenoids, tonsils and peripheral lymph nodes is seen as was seen in our patient. Investigations reveal profound lymphopenia with diminished serum immunoglobulins and no antibody formation following investigation. Antibody levels may initially be normal due to passively transferred maternal antibodies. Analysis of lymphocyte subpopulation helps to identify the type of SCID (3). Treatment consists of bone marrow transplant. Gene therapy with enzyme replacement is useful in ADA deficient SCID . 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Community Medicine - Primary Healthcare in the KSA
This course is planned and developed by a cooperative multi-disciplinary partnership of the College of Medicine faculty and the community-based health services providers. The course is responsive to the evolving social and health systems of Saudi Arabia. It serves medical students by providing community-centered learning experiences. Community medicine at Alfaisal College of Medicine is a longitudinal program consisting of several courses. This first course includes field visits to some of the community medical centers. Also, integral to the course is the Community Oriented Research Project, wherein students undertake a field research project that explores relevant community health issues, such as prevalence of disease and illness, factors affecting such illness, and community attitudes to and knowledge of the problems affecting them. In our everyday clinic we start to see patterns and trends: epidemics of heart disease, obesity, depression, substance abuse. Using the tools and basic principles of community medicine/public health and epidemiology, we can take the next step of learning about the factors that lie behind these illnesses and deal appropriately with them. This course is designed to teach students the basic principles of community medicine/public health and confirm what they already know: that, through community involvement, physicians have the knowledge and the opportunity to change our society/communities for the better.
Occupational and Environmental Medicine - COM 237
Occupational and Environmental Medicine is the area of family medicine devoted to prevention and management of occupational and environmental injury, illness, and disability and the promotion of health and productivity of workers, their families and communities. The Kingdom of Saudi Arabia is industrializing rapidly. It is imperative that the primary care and other physicians have a practical working knowledge on the range of occupational hazards in the Kingdom, especially how to recognize, evaluate, treat or prevent them. Many Saudi and expat workers are employed by small or mid-size companies that may not have a full-time occupational physician on site. Thus, the importance of occupational medicine training becomes evident when considering the incidence of work-place induced illnesses and injuries. This course is usually offered in the third or fourth semester, teaching the medical students general and basic principles of Occupational and Environmental Medicine. It consists of 16 weekly lectures of fundamental topics in Occupational and Environmental Medicine. In addition, we usually conduct filed trips and encourage students to participate is filed work to give student exposure to and some experience in this important area of family medicine.
This course provides an overview of the factors affecting healthcare delivery in rural regions of the Kingdom of Saudi Arabia and the region; exploration of the significance of poverty, low population density, and geographic mal-distribution of providers for the development of policy and practice in healthcare and administration. In the second part of the course student will learn to identify main groups of communicable diseases in the kingdom of Saudi Arabia, identify the links in the chain of infection and means of breaking the chain. Student will also learn the signs and symptoms, causative agent, reservoir, means of transmission, for these locally known communicable diseases. During this course students will be asked to conduct a community research project addressing one of the course objectives and present findings to the class.
Twice weekly problem-based learning sessions for both male and female batches, for academic year 2012-13.
Twice weekly problem-based learning (PBL) sessions, for academic year 2013-14.