The second (Hutchinson) type is characterized clinically by secondary growth in the orbit xenical 120mg fast delivery, meninges discount xenical online amex, skull and long bones and occurs in childrenup to 15 years of age buy 120 mg xenical amex. It shows central space flled with eosinophilic fbrillary material called neuropil surrounded by concentrically arranged tumor cells (Homer-Wright pseudorosettes). Presence of Schwannian stroma, mature Schwann cells and fbroblasts is a histologic pre- requisite for the designation of ganglioneuroblastoma and ganglioneuroma. It signifes localized primary tumor with dissemination limited to skin, liver and/or bone marrow. Histology Schwannian stroma Present Absent Gangliocytic differentiation Present Absent Mitotic rate Low High Mitotic karyorrhexis index <200/5000 cells (≤ 4%) >200/5000 (> 4%) Intramural calcifcation Present Absent 4. Retinoblastoma • Retinoblastoma is the most common malignant eye tumor of childhood. Hereditary retinoblastoma when affecting both eyes is called bilateral retinoblastoma. The nuclei are displaced away from the lumen and photoreceptor like elements are produced from it. Retinoblastoma also shows Homer Wright rosettes which are radial arrangement of cells around a central tangle of fbrils. The risk of Wilms’s tumor is increased in association with at least three recognizable groups of congenital malformations: 1. Denys-Drash syndrome, which is characterized by gonadal dysgenesis (male pseudo- hermaphroditism) and early-onset nephropathy leading to renal failure. The charac- teristic glomerular lesion in these patients is a diffuse mesangial sclerosis. In addition to Wilms’ tumors, 651651 Review of Pathology these individuals are also at increased risk for developing germ-cell tumors called gonadoblastomas. Beckwith-Wiedemann syndrome, characterized by enlargement of body organs (organomegaly), macroglossia, hemihypertrophy, omphalocele, and abnormal large cells in adrenal cortex (adrenal cytomegaly). In addition to Wilms’ tumors, patients with Beckwith-Wiedemann syndrome are also at increased risk for developing hepatoblastoma, adrenocortical tumors, rhabdomyosarcomas, and pancreatic tumors. Morphology Grossly, Wilms’s tumor tends to present as a large, solitary, well-circumscribed mass and on cut section, the tumor is soft, homogeneous, and tan to grey with occasional foci of hemorrhage, cyst formation, and necrosis. Microscopically, Wilms’s tumors are characterized by the classic triphasic combination of blastemal, stromal, and epithelial cell types observed in the vast majority of lesions. Pulmonary Langerhans’ cell histiocytosis: most often seen in adult smokers and can regress spontaneously on cessation of smoking. The presence of Birbeck’s granules in the cytoplasm is characteristic which have a tennis- racket appearance under the electron microscope. The anterior mediastinum extends from the sternum anteriorly to the pericardium and brachiocephalic vessels posteriorly. It contains the thymus gland, the anterior mediastinal lymph nodes, and the internal mammary arteries and veins. The middle mediastinum lies between the anterior and posterior mediastinum and contains the heart; the ascending and transverse arches of the aorta; the venae cavae; the brachiocephalic arteries and veins; the phrenic nerves; the trachea, main bronchi, and their contiguous lymph nodes; and the pulmonary arteries and veins. The posterior mediastinum is bounded by the pericardium and trachea anteriorly and the vertebral column posteriorly. It contains the descending thoracic aorta, esophagus, thoracic duct, azygos and hemiazygos veins, and the posterior group of mediastinal lymph nodes. The most common lesions in the anterior mediastinum are thymomas, lymphomas, teratomatous neoplasms, and thyroid masses. The most common masses in the middle mediastinum are vascular masses, lymph node enlargement from metastases or granulomatous disease, and pleuropericardial and bronchogenic cysts. In the posterior mediastinum, neurogenic tumors, meningoceles, meningomyeloceles, gastroenteric cysts, and esophageal diverticula are commonly found. If the epithelial cells of the thymus become neoplastic, the tumor that develops is a thymoma. The epithelial component of the tumor may consist primarily of round or oval cells derived mainly from the cortex or spindle-shaped cells derived mainly from the medulla or combinations thereof. In addition to myasthenia gravis, other paraneoplastic syndromes, such as acquired hypogammaglobulinemia, pure red cell aplasia, Graves disease, pernicious anemia, dermatomyositis-polymyositis, and Cushing syndrome, can be seen. Diffuse and limited scleroderma are both a systemic disease, whereas the linear/morphea form is localized to the skin. Difuse Scleroderma Diffuse scleroderma (progressive systemic sclerosis) is the most severe form. It has a rapid onset, involves more widespread skin hardening, will generally cause much internal organ damage (especifcally the lungs and gastrointestinal tract), and is generally more life- threatening. Skin hardening is usually confned to the hands and face, internal organ involvement is less severe, and a much better prognosis is expected. In typical cases of limited scleroderma, Raynaud’s phenomenon may precede scleroderma by several years. Morphea/Linear Scleroderma Morphea/linear scleroderma involves isolated patches of hardened skin. Diagnosis is by clinical suspicion, presence of autoantibodies (especifcally anti-centromere and anti-scl70/anti-topoisomerase antibodies) and occasionally by biopsy. Anti-centromere antibody is more common in the limited form (80-90%) than in the systemic form (10%), and anti-scl70 is more common in the diffuse form (30-40%). Splenic macrophages in Gaucher’s disease differ from histiocytosis is positivity for which of the following? Two biopsies take from the (d) Keratin 14 lesion proper show benign appearing papillomatosis with hyperkeratosis and acanthosis infltrating the sub- 3. In familial Mediterranean fever, the gene encoding the frozen section biopsy in histopathology laboratory? A 14 years old girl on exposure to cold develop pallor of (c) Neural extremities followed by pain and cyanosis. Which of the following diseases have an underlying (a) Triad of diarrhea, dementia and dermatitis mitochondrial abnormality? Most common second malignancy in patients with (a) Dermatitis, glossitis, steatorrhea familial retinoblastoma is: (Karnataka 2004) (b) Dermatitis, glossitis, alopecia (a) Teratoma (c) Mental changes, diarrhea, alopecia (b) Medullary carcinoma (d) Dermatitis, dementia, diarrhea (c) Osteosarcoma 45. Frozen section biopsy in not used for: (Bihar 2005) (c) Disarrangement of tooth (a) Enzyme (d) Dysplastic leukoplakia (b) Amyloid 43. Endothelial cells have: (Bihar 2003) (c) Pleomorphic adenoma (a) Weibel Palade bodies (d) None (b) Gamma Gandy bodies (c) Both 56. They are essential for normal colla- gen fbrillogenesis in various connective tissues like cornea. Prognostic factors in Neuroblastoma • Age and stage: Good prognosis in infants regardless of stage.

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It indicates the propensity of disease transmission x = cases diarrhea among the contacts following in population discount xenical 120mg online. To workout numbers of contacts (at risk) generic xenical 60mg online, primary cases was 10 we usually subtract the number of primary cases from y = number of persons at risk (total number of the total number of people xenical 120mg free shipping. Statement of existing facts by tabulating all available incorporates time into the denominator. When a information as per age, sex, class, profession, habits person or an event is observed for variable length of time we use person time as denominator for calculation and other characteristic features. Formulation of hypothesis, such as smoking causes each person is observed, totalled for all persons and lung cancer. Testing the hypothesis by making observations, trials or investigations to see if the hypothesis holds good. Sum of time each person is It may be mentioned that four things are needed observed (total person time) for carrying out a good field epidemiological study. These are a field unit, a statistical unit, a laboratory and Risk Ratio (Refer General Epidemiology- an efficient transport system. The field unit consists of Chapter 4, Page 35) interrogators, technicians, enumerators, social workers, A risk ratio, or relative risk, is the ratio of incidence public health nurse, etc. The first classification was to exposure over and above that experience by non- published in 1893 as the Bertillon Classification of exposed. The basic or core code is a three character code, It provides an estimate of the amount by which disease comprizing a letter of the alphabet (excluding U) followed could be reduced in that population if the suspected by two digits from 0-9. Incidence of the disease in total population – Letter U is reserved for provisional classification of new Incidence in non-exposed population diseases of uncertain etiology. For example, chapter 1 is titled “Certain infectious and para- Methodology of Epidemiological Studies sitic diseases”. It covers entries from A00 to B99 spread 26 Any epidemiological study consists of the following six over 21 blocks. The block for viral hepatitis (B+15 to methodical steps: B19) has the following three character categories: B 15 Acute hepatitis A References B 16 Acute hepatitis B 1. A Dictionary of Epidemiology, London: Under B 15 acute hepatitis A are listed 2 four Oxford University Press, 1983. New York: McGraw Hill, 1980 Human beings are directly exposed to various forms of 8. In: Leavell and Clark (Eds): changes in climate including temperature, extreme Preventive Medicine for the Doctor in this Community (2nd events like cyclone, heat waves, sea level rise, etc. A Short Textbook of Preventive would help in appropriate resource allocation for all Medicine for the Tropics. International retrieval and analysis of public health data to support Journal of Health Geographics. London: Epi info: It can be used for data entry and analysis; Churchill Livingstone, 1975. The word ‘study’ degenerative changes with advancing years, accidents, denotes scientific inquiry on some problem or event. The poisons, tumors, cancers, and invasions of body by epidemiological investigation to health problem involves microorganisms, all seem to have occurred with varying following two basic approaches. It has borrowed from sociology, • Where does the problem occur, in relation to demography, statistics, as well as other fields of study geographical distribution, residence, place of and it is still considered as neonate or budding exposure, etc.? What intervention may to describe the natural history of disease as well have been implemented? Making comparisons: The next basic approach is various possible outcomes (recovery, complication, to make comparison and draw inference. Such comparison may be made between different knowledge is useful not only for prognostic purposes population at a given time, between subgroup of but also in advancing hypotheses as to what specific population, or between various periods of factors may be more directly involved in determining observation. It has group, which help to draw inference on contributing been defined various way by different epidemiologist. In other word we can say that ‘the like application of this study to the control of health problems’ can be compared with like’. Last’s in his definition emphasized that epidemiological study is not only concerned with the Types of Epidemiological Study disease but also with ‘health related events’. The term ‘epi’ means among and ‘demos’ means people; any Epidemiological studies can be broadly classified as study undertaken among population to find the observational and experimental study with further magnitude of health problems and their distribution, subdivision, however, these studies cannot be regarded as watertight compartment; they complement one – Program trial another. Observational • Analytical-can be of following type types of studies generally employ the method of sample – Group based-the unit of study is population as surveys, where a sample of the population is observed group, e. Retrospective-this can be case control study studies) are considered to be analytical in nature, and iii. Prospective-this is cohort study, also called inference of associations can be made. Experimental study (Interventional study)-include Cross-sectional clinical trial, field trial, etc. Cross-sectional study In this study nature is allowed to take its own course, may be descriptive, analytical, or both. Descriptive cross- investigator only measure do not intervene or sectional survey usually provides prevalence data but manipulate any variable. This includes descriptive and repeated survey can be used to give an estimate of analytical epidemiology. In cross-sectional surveys the information on is concerned with measuring frequency and study of cause and effect is simultaneously gathered and the time distribution of health related problem in population sequence cannot be determined (e. From epidemiological Unlike the observational study, the researcher in an study it has been noted that individuals with cancer have experimental epidemiological study, control or significantly lower level of B-carotene in blood but from manipulate one or more factors in the study to obtain the study it is not possible to comment, which is the information how the factors influence the variables in cause and effect. The experiments are designed to test the cause effect difference between cross-sectional surveys and hypothesis. Evaluative study are those that appraise the value of Retrospective (Backward Looking Study) health care; they are setout to measure the effectiveness of different health services. They are of two main types: Here the investigator start with effect and goes back to review and trials. Prospective (Forward Looking) Types of Evaluative study • Program review In this study the investigator start with causative factor 29 • Trials and goes forward to the effect. The term prospective – Clinical trials not necessarily mean that the study is carried out in which allows valid comparisons across different populations. Pattern refers to the occurrence of health- related events by time, place, and personal characteristics. Study population are divided into two groups, The two main measures of frequency of disease, health exposed to the factor of interest and not exposed to problems and utilization of health services are incidence that factor, and then followed up to see and compare and prevalence. If the outcome and exposure both have already occurred at These explain time distribution of occurrence of disease the initiation of investigation called retrospective (it can or health related events. Choice of Study Design A particular research question may be addressed using Periodic Trend (Cyclical Fluctuation) different epidemiological approach; the choice depend Periodic fluctuation in occurrence of diseases is known upon nature of the disease, type of exposure and as periodic trend, e. The descriptive studies of periodic variation: (a) Variation in herd immunity, (b) are primarily carried out for measuring frequency and Antigenic variation in agent. On the other hand both case-control and cohort study can be Seasonal Trend used to test a hypothesis. For rare disease a case control Annual variation in the disease incidence that is related study design is useful and for common diseases cohort in part to a season is called seasonal trend, e.

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At present this test is not feasible due to lack the vaccine is most effective in women who have not yet of resources order xenical canada. Vaccine schedule requires three doses to be administered over a period of 6 months Visual inspection methods for cancer screening: (Gardasil: 0 order xenical with visa, 2 and 6 months and Cervarix: 0 cheap xenical 60 mg, 1 and 6 This method is inferior to cervical cytology, but is more months). Four types of visual detection methods have at +2 to +8°C and should be shaken well before use. Unaided visual inspection or ‘downstaging’: It is not suitable as an independent screening test. Visual inspection after application of Lugol’s iodine • Diagnosis, treatment and follow-up. If necessary, the patients may be further referred from There are two recognized techniques- (i) Signal here to the regional cancer centers. Such information can be generated only by requires transport of the sample to laboratory, storage means of population-based registries. Elevan cancer registries have now been esta- expert committee group for cervical cancer screening blished under the National Cancer Registry Program. The Mumbai, Bangalore and Chennai registries have both a hospital as well as a population-based registry. The Regional Cancer Centers are located National Cancer Control Program was started in the year at Bangalore, Ahmedabad, Gwalior, Chennai, 1975 to 76. At that time priority was given to equip Tiruvananthapuram, Cuttack, Guwahati, Kolkata, premier cancer institutions in the country. For this New Delhi, Mumbai, Allahabad, Hyderabad, Nagpur, central assistance @ Rs 2. In of the Regional Cancer Centers are: 1984, the strategy was revised and stress was laid on – Cancer diagnosis, treatment and follow-up primary prevention and early detection of cancer cases. Districts were – Preventive measures with emphasis on screening, selected based on their proximity to medical colleges. The project regarding hazards of tobacco consumption and is envisaged to find out the awareness amongst women necessity of genital hygiene for prevention of cervical aged 20 to 65 years about cancer, health facilities cancer. The project • Secondary prevention-early detection of cancers is likely to be completed by 2002. Ministry of Health and Family Welfare, Govt of India, than 30 medical college hospitals for purchase of Annual Report, 1999-200. New Delhi: Tata • District Cancer Control Scheme: A scheme for district McGraw Hill, 1980. Estimate of Cancer Incidence in India detection and pain relief measures was started in in 1991. Leads to cancer control based on cancer for each district project and a recurring grant of Rs patterns in rural population in south India. Cancer Causes 15 lakhs is provided for each district project and a Control 2000;11(5):433-39. The Epidemiology of Mouth Cancer: A The districts are linked with institutions capable of Review of Global Incidence. Indian J Gastroenterol than 30 voluntary agencies recommended by the 1999;18(1):24-48. Typhoid carriers among patients with assistance of up to Rs 5 lakhs each for undertaking gallstones are at increased risk for carcinoma of the health education and early detection activities. A study on serum carotenoid levels in breast cancer patients of Indian women in Chennai (Madras), charitable as well as government hospitals. Dietary factors in oral leukoplakia and 361 tions are being supported for setting up mammo- submucous fibrosis in a population to based case control graphy units. Oxford Textbook of Medicine (2nd edn), discussed here: ischemic heart disease, rheumatic heart Oxford: Oxford University Press, 4. Survival in cancer of the cervix: treatment in a population-based cancer registry in a It is also commonly known as coronary heart disease developing country. Cancer Cases Control 1998;9(1): and coronary artery disease, because most cases of 117-23. Preventive Medicine for the Doctor These figures include silent as well as clinically apparent in his Community (2nd edn). It may be mentioned community based cluster randomized controlled oral that this disease was virtually unknown in cancer screening trial in Kerala, India. Review of Screening and claim that there has been a recent epidemic of coronary Preventive Strategies for Cervical Cancer in India. The highest risk group has more than 10 times the risk compared to that in the lowest risk group. In Positive association with intake of animal protein and women, it is the second or third leading cause. It has been found that has been labelled as the single largest killer of the world. Fifty percent of these cholesterol (cholesterol present as a component of low deaths are preventable. These figures were projected to be 253 and tension, carbohydrate intolerance and obesity. It has been found that exercise reaching can have recurrent episodes well into their forties. During the same periods an aggressive, striging, ambitious and restless person of time, the prevalence of rheumatic fever ranged from 0. The incidence estimates are predominantly in north water tends to have a higher content of nitrate, Indian population. It is the genetic pathway is unknown it seems that some strains of group code that determines which patient will get the disease A Streptococcus are “rheumatogenic” and that a small 363 and who will respond to which treatment. It causes an acute generalized inflammatory response and Carditis Clinical an illness that selectively affects the heart, joints, brain Polyarthritis Fever Chorea Arthralgia and skin. However, damage to the heart valves, Laboratory particularly the mitral and aortic valves, may persist after Acute phase reactions: an acute episode has resolved. This involvement of the Abnormal erythrocyte sedimentation rate cardiac valves is known as rheumatic heart disease. Previous infection is Group A streptococci can be subdivided into more indicated by: increased antistreptolysin O or other streptococcal than 70 distinct types on the basis of M protein. Certain antibody; positive throat culture for group A Streptococcus and recent scarlet fever. Manifestations with a long latent period, such as chorea types of group A streptococci (including M types 1, 3, and late onset carditis, are exempted from this last requirement. Polyarthritis 36 percent Carditis 14 percent Primordial and Primary Prevention Corea 4 percent Subcutaneous nodules 0. Such sore as improvement in housing, hygiene infrastructure and throat is caused by group A hemolytic streptococci. For those allergic to penicillin, oral sulfadiazine or oral Streptococcal pharyngitis; primary prophylaxis of sulfasoxazole were considered optimal second choices.

All code for thin flament–associated proteins buy 120 mg xenical overnight delivery, suggesting disturbed assembly or interplay of these structures as a pivotal mechanism buy generic xenical 60mg online. There is mutation in the Gs a subunit; individuals express the disease only when the mutation is inherited from the mother) buy cheap xenical. Structural proteins that contribute to multimeric structures are vulnerable to dominant negative effects, e. It occurs in children and typically presents with an abdominal mass as well as with hypertension, hematuria, nausea and intestinal obstruction. Since it is derived from mesonephric mesoderm, it can include mesodermal derivatives such as bone, cartilage, and muscle. Multifactorial inheritance is similar to polygenic inheritance in that multiple alleles at different loci affect the outcome; the difference is that multifactorial inheritance includes environmental effects on the genes. Huntington disease is transmitted as an autosomal dominant trait with 100% penetrance, meaning that if a child inherits the abnormal gene, that child will inevitably develop Huntington disease. An earlier age of onset is associated with a larger number of trinucleotide repeats. Thus, patients who receive an abnormal gene from their fathers tend to develop the disease earlier in life. Anticipation is common in disorders associated with trinucleotide repeats as in Fragile X syndrome, myotonic dystrophy and Frie- dreich ataxia. The likelihood that the properties of a gene will be expressed is called penetrance. Dissecting aortic aneurysm (Ref: Robbins 8th/145, 9/e 145) The patient has Marfan syndrome, an autosomal dominant disorder caused by a defect in the gene on chromosome 15 encoding fbrillin, a 350 kD glycoprotein. Fibrillin is a major component of elastin associated microfbrils, which are common in large blood vessels and the suspensory ligaments of the lens. Abnormal fbrillin predisposes for cystic medial necrosis of the aorta, which may be complicated by aortic dissection. Other features of the syndrome are subluxated lens of the eye, mitral valve prolapse, and a shortened life span (often due to aortic rupture). Thus, maternal imprinting refers to transcriptional silencing of the maternal allele, whereas paternal imprinting implies that the paternal allele is inactivated. Imprinting occurs in the ovum or the sperm, before fertilization, and then is stably transmitted to all somatic cells through mitosis. The genomic imprinting is best illustrated by the following disorders: Prader-Willi syndrome and Angelman syndrome. It is also seen in other conditions like molar pregnancy and Beckwith-Wiedemann syndrome. There are three key mechanisms by which unstable repeats cause diseases: • Loss of function of the affected gene occurs in fragile X syndrome. If the breaks are on opposite sides of the centromere, it is known as pericentric. Similarly, insertion would lead to increase (and not loss) in the genetic material. It can be of the following types: – In balanced reciprocal translocation, there are single breaks in each of two chromosomes, with exchange of material. There is no loss of genetic material and so, the affected individual is likely to be phenotypically normal. A balanced translocation carrier, however, is at increased risk for producing abnormal gametes. Transfer of the segments then leads to one very large chromosome and one extremely small one. This loss is compatible with a normal phenotype because it carries only highly redundant genes. Therefore, deletion, insertion and Robertsonian translocation would lead to change in genetic material. Its greatest utilization in constitutional analysis is in the detection of microdeletionsQ. However, interphase analysis can be used to make a rapid diagnosis in instances when metaphase chromosome preparations are not yet available. Interphase analysis also increases the number of cells available for examination, allows for investigation of nuclear organization, and provides results when cells do not progress to metaphase. Most commonly used stain is Giemsa stain, so called G-banding • The chromosomes are arranged in order of decreasing length • Any alteration in number or structure of chromosomes can be easily detected by karyotyping 43. The features pointing towards this diagnosis are: • Male phenotype • Hypogonadism [rudimentary testes] • Decreased secondary sexual characteristics [sparse pubic and facial hairs] • Disproportionately long arms and legs. Turner’s Syndrome Turner’s syndrome is the most common sex chromosomal disorder in phenotypic females. So, the number of copies after 3 cycles would be 23 = 8 times the original copies. Mitral valve prolapse (Ref: Robbins 8th/169) The patient in question is suffering from Fragile X Syndrome which is a familial form of mental retardation with features like lax skin and joints, fat feet, large ears, long narrow face with prominent jaw and nasal bridge and macro-orchidism. Mitral valve prolapse and aortic root dilatation are the serious complications of this disorder. The clinical manifestations of this condition are as follows: 121121 Review of Pathology Phenotypic features Urogenital anomalies Cardiac anomalies Lymphatic anomalies *Short stature *Primary amenorrhea *“Streak” *Coarctation of the aorta *Cystic hygromas *Webbed neck ovaries *Bicuspid aortic valve *Edema of extremities in *High palate *Decreased estrogen and neonates *Low posterior hair line ↑ gonadotropins *“Shield” chest *Absent secondary sexual *Widely spaced nipples characteristics *Horseshoe kidney *Short fourth metacarpal Turner syndrome is genetically heterogeneous. While trisomies and non-mosaic monosomies typically result from meiotic non-disjunction, mosaicism arises secondary to mitotic errors after fertilization has taken place. An unbalanced trisomy 21 (in which one chromosome 14 contains the long arms of both chromosomes 14 and 21) is responsible for Down syndrome. Mosaicism (Ref: Robbins 8th/161) Mosaicism is the term used when cells with more than one type of genetic constitution are present in the same organism. The situation in the question uncommonly occurs when nondisjunction of chromosome 21 occurs during mitosis (rather than meiosis) in one of the early cell divisions. The degree to which the individual expresses the characteristics of the syndrome depends on the number of cells involved and their distribution. Balanced translocation (choice A) does not produce features of any syndrome, because critical genetic material is not lost, although progeny may be affected when the translocated chromosome is added to a complement of otherwise normal chromosomes. Chiasma (choice B) refers to the “X”-shape of chromosomes undergoing exchange of genetic material in crossover. Spermiogenesis (choice D) refers to the development of sperm precursors into mature sperm. It 122 Genetics is characterized by bone fragility, hearing loss, blue scleraQ and dentinogenesis imperfect. Most commonly used stain is Giemsa stainQ, so called G-bandingQ • The chromosomes are arranged in order of decreasing lengthQ. Any alteration in number or structure of chromosomes can be easily detected by karyotyping 60. It usually results from com- plete or partial monosomy of X chromosome and associated with hypogonadism in phenotypic females. The probe hybridizes to its homologous genomic sequence and thus labels a specifc chromosomal region that can be visualized under a fuorescent microscope.