Outlines of American trypanosomiasis ( chagas' disease )

 

Introduction:

Chagas disease, also known as American trypanosomiasis, is a parasitic infection caused by the protozoan Trypanosoma cruzi (T. cruzi). The disease is endemic in Central and South America, where it affects approximately 6 to 7 million people, with an additional 70 million individuals at risk of infection. The disease is transmitted to humans via the feces of triatomine bugs, also known as “kissing bugs”. The acute phase of the disease is usually mild or asymptomatic, but if left untreated, the chronic phase can lead to serious cardiac and digestive complications.

Etiology and Transmission:

T. cruzi is a hemoflagellate protozoan that is primarily transmitted to humans via the feces of infected triatomine bugs. These bugs typically live in the cracks and crevices of poorly constructed housing, and feed on the blood of sleeping humans at night. During feeding, the bug defecates near the site of the bite, and the feces, which contain the T. cruzi parasites, can then enter the human body through mucous membranes or broken skin. In addition to vector-borne transmission, Chagas disease can also be transmitted via blood transfusions, organ transplantation, or from mother to child during childbirth.

Clinical Manifestations:

The clinical manifestations of Chagas disease can be divided into acute and chronic phases. The acute phase usually lasts for several weeks and is characterized by mild or asymptomatic symptoms, including fever, headache, muscle pain, and swollen lymph nodes. In some cases, patients may develop a characteristic swelling of the eyelid on the side of the bite, known as a “Romaña sign”. However, in approximately 30% of cases, the acute phase can progress to a severe form of the disease, with myocarditis, meningoencephalitis, and other serious complications.

If left untreated, the chronic phase of Chagas disease can develop decades after initial infection, and can lead to severe cardiac and digestive complications. Cardiac complications are the most common and include cardiomyopathy, arrhythmias, and heart failure. Digestive complications can include megacolon and megaesophagus, which can lead to difficulty swallowing, malnutrition, and weight loss.

Diagnosis and Treatment:

Diagnosis of Chagas disease can be challenging, particularly in the chronic phase, as symptoms may be nonspecific and laboratory tests may have low sensitivity and specificity. Serological tests, such as ELISA and indirect immunofluorescence, are the primary diagnostic tests, although PCR and microscopy may also be used.

Treatment of Chagas disease is most effective in the acute phase, with antiparasitic drugs such as benznidazole and nifurtimox. These drugs are less effective in the chronic phase, and treatment is usually focused on managing symptoms and preventing complications. In cases of severe cardiac or digestive complications, surgery may be necessary.

Prevention:

Prevention of Chagas disease primarily involves control of the triatomine bug population, through measures such as improved housing, insecticide spraying, and bed net use. Blood transfusion and organ transplantation screening programs have also been implemented in endemic areas to reduce the risk of transmission through these routes.

Conclusion:

Chagas disease is a significant public health problem in Central and South America, with millions of individuals affected and at risk of infection. The disease is transmitted primarily by the triatomine bug, and can lead to serious cardiac and digestive complications if left untreated. Diagnosis and treatment can be challenging, particularly in the chronic phase, and prevention is focused on controlling the vector population and reducing transmission through blood transfusions and organ transplantation. Further research is needed to develop effective treatments for the chronic phase of the disease.

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Outlines of African Trypanosomiasis (African Sleeping Sickness)

Abstract:

African trypanosomiasis, also known as sleeping sickness, is a neglected tropical disease caused by the protozoan parasites Trypanosoma brucei. The disease is transmitted to humans and animals by the tsetse fly, a bloodsucking insect found only in sub-Saharan Africa. African trypanosomiasis is characterized by two distinct stages: an early hemolymphatic stage and a late meningoencephalitic stage, which can be fatal if left untreated. Diagnosis of African trypanosomiasis is challenging, and treatment options are limited, with many drugs having toxic side effects. There is an urgent need for new diagnostic tools and treatments for this disease.

Introduction:

African trypanosomiasis is a parasitic disease that affects humans and animals in sub-Saharan Africa. The disease is caused by the protozoan parasites Trypanosoma brucei, which are transmitted by the tsetse fly. There are two subspecies of T. brucei that cause human African trypanosomiasis: T. b. gambiense, which is responsible for over 95% of cases, and T. b. rhodesiense, which accounts for the remaining cases.

Epidemiology:

African trypanosomiasis is endemic in 36 countries in sub-Saharan Africa, where an estimated 69 million people are at risk of infection. The disease is most prevalent in rural areas where there is a high density of tsetse flies. The World Health Organization (WHO) estimates that there were approximately 9779 cases of African trypanosomiasis in 2020, with 92% of cases reported in the Democratic Republic of the Congo.

Clinical features:

The clinical features of African trypanosomiasis can be divided into two distinct stages: an early hemolymphatic stage and a late meningoencephalitic stage. In the early stage, patients may experience non-specific symptoms such as fever, headache, joint pain, and malaise. As the disease progresses to the late stage, patients may develop neurological symptoms such as confusion, behavioral changes, and sleep disturbances. The late stage is also characterized by the presence of trypanosomes in the cerebrospinal fluid, which can lead to coma and death if left untreated.

Diagnosis:

Diagnosis of African trypanosomiasis can be challenging, as the clinical symptoms are non-specific and can be similar to those of other diseases. The diagnosis is usually confirmed by the detection of trypanosomes in blood or cerebrospinal fluid using microscopy or other diagnostic tests such as the card agglutination test for trypanosomiasis (CATT).

Treatment:

Treatment options for African trypanosomiasis are limited, and many drugs have toxic side effects. The drugs used for the treatment of the early stage of the disease include pentamidine and suramin, while the drugs used for the late stage include melarsoprol and eflornithine. However, these drugs have limitations, and the emergence of drug-resistant trypanosomes is a major concern. There is an urgent need for new drugs with better efficacy and safety profiles.

Prevention and control:

Prevention and control of African trypanosomiasis rely on a combination of strategies, including the control of tsetse fly populations, the use of insecticide-treated bed nets, and the screening of blood donors. The WHO has set a goal to eliminate African trypanosomiasis as a public health problem by 2030, and progress is being made towards achieving this goal.

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Outlines of Autoimmune Hepatitis

 

Introduction:

Autoimmune hepatitis (AIH) is a chronic inflammatory liver disease, which is caused by the immune system attacking the liver. The disease is characterized by a range of symptoms, such as fatigue, abdominal pain, and jaundice. The condition can lead to serious liver damage and cirrhosis if left untreated. The purpose of this paper is to provide a comprehensive overview of autoimmune hepatitis, including its epidemiology, etiology, pathophysiology, clinical presentation, diagnosis, and treatment.

Epidemiology:

Autoimmune hepatitis is a relatively rare disease, with a prevalence of 10-20 cases per 100,000 population. The disease affects women more frequently than men, with a female-to-male ratio of 3:1. It can occur at any age, but it most commonly affects individuals between the ages of 15 and 40.

Etiology:

The exact cause of autoimmune hepatitis is unknown, but it is believed to be a result of a combination of genetic and environmental factors. Some of the environmental factors that may trigger the disease include viral infections, certain medications, and exposure to toxins. In addition, genetic factors may also play a role, as there is evidence of a familial predisposition to autoimmune hepatitis.

Pathophysiology:

Autoimmune hepatitis is characterized by the immune system attacking the liver, resulting in inflammation and damage to the liver cells. The inflammation is caused by an abnormal immune response, which results in the production of autoantibodies that attack the liver cells. The exact mechanism of the immune response is not fully understood, but it is believed to involve a complex interplay between T cells, B cells, and cytokines.

Clinical presentation:

The clinical presentation of autoimmune hepatitis can vary widely, but common symptoms include fatigue, abdominal pain, jaundice, and nausea. In some cases, patients may also experience joint pain, skin rashes, and itching. The severity of the symptoms can vary depending on the stage of the disease.

Diagnosis:

The diagnosis of autoimmune hepatitis involves a combination of clinical, laboratory, and histological criteria. Laboratory tests can reveal elevated liver enzymes, such as alanine transaminase (ALT) and aspartate transaminase (AST), as well as the presence of autoantibodies. Liver biopsy is usually necessary to confirm the diagnosis and assess the extent of liver damage.

Treatment:

The treatment of autoimmune hepatitis typically involves a combination of medications, such as corticosteroids and immunosuppressive agents. The goal of treatment is to reduce inflammation and prevent further liver damage. In some cases, liver transplantation may be necessary if the disease progresses to end-stage liver disease.

Conclusion:

Autoimmune hepatitis is a chronic liver disease that can lead to serious liver damage and cirrhosis if left untreated. The disease is relatively rare, but it can affect individuals of any age. The exact cause of autoimmune hepatitis is unknown, but it is believed to be a result of a combination of genetic and environmental factors. The diagnosis of autoimmune hepatitis involves a combination of clinical, laboratory, and histological criteria, and treatment typically involves a combination of medications and, in some cases, liver transplantation.

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Outlines about Vasculitis

 

Abstract:

Vasculitis is a group of diseases characterized by inflammation of blood vessels, which can affect any organ system in the body. It is a rare condition with a broad range of symptoms and can be difficult to diagnose. Vasculitis can be classified based on the size of the affected blood vessels, the presence of antibodies, and other clinical features. This paper will provide an overview of vasculitis, its causes, symptoms, diagnosis, and treatment.

Introduction:

Vasculitis is a group of rare diseases characterized by inflammation of blood vessels. This inflammation can affect any organ system in the body and can cause a wide range of symptoms. Vasculitis can be classified based on the size of the affected blood vessels, the presence of antibodies, and other clinical features. The causes of vasculitis are not fully understood, but it is believed to be an autoimmune disorder. The diagnosis of vasculitis can be challenging due to its broad range of symptoms, and treatment options vary depending on the type and severity of the disease.

Causes:

The exact causes of vasculitis are unknown, but it is believed to be an autoimmune disorder. The immune system, which normally protects the body from infections and foreign substances, mistakenly attacks the body's blood vessels, causing inflammation. This inflammation can lead to narrowing or blockage of the affected blood vessels, reducing blood flow to vital organs and tissues.

Vasculitis can also be triggered by infections, medications, or exposure to environmental toxins. Some types of vasculitis are associated with specific conditions, such as rheumatoid arthritis or hepatitis B or C.

Symptoms:

The symptoms of vasculitis vary depending on the type and severity of the disease and the organs affected. Some common symptoms include fever, fatigue, weight loss, muscle and joint pain, and skin rashes. If the disease affects the kidneys, symptoms may include blood in the urine, proteinuria, and decreased urine output. If the lungs are affected, symptoms may include coughing, shortness of breath, and chest pain. If the nervous system is affected, symptoms may include headaches, seizures, and confusion.

Diagnosis:

The diagnosis of vasculitis can be challenging due to its broad range of symptoms, which can mimic other diseases. The diagnostic process typically involves a physical examination, blood tests, and imaging studies such as X-rays, CT scans, or MRIs. A biopsy of affected tissue may also be necessary to confirm the diagnosis.

Treatment:

The treatment of vasculitis depends on the type and severity of the disease and the organs affected. The primary goal of treatment is to reduce inflammation and prevent damage to vital organs. This may involve the use of corticosteroids or other immunosuppressive medications. In some cases, plasma exchange therapy may be necessary to remove antibodies from the blood. Supportive care, such as dialysis or mechanical ventilation, may be necessary for severe cases.

Conclusion:

Vasculitis is a rare and complex disease that can affect any organ system in the body. The exact causes of vasculitis are unknown, but it is believed to be an autoimmune disorder. The diagnosis of vasculitis can be challenging due to its broad range of symptoms, but early detection and treatment can help prevent damage to vital organs. The treatment of vasculitis depends on the type and severity of the disease and may involve the use of corticosteroids, immunosuppressive medications, plasma exchange therapy, or supportive care. Further research is necessary to better understand the causes and treatment options for vasculitis.

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Outlines of Porphyrias

 

Introduction:

Porphyria is a group of rare genetic disorders that affect the production of heme, a vital component of hemoglobin in red blood cells. The condition results in a buildup of porphyrins, which are precursors to heme, and their byproducts in the body. This can cause a range of symptoms, including abdominal pain, skin sensitivity, and neurological problems. In this paper, we will discuss the types, causes, diagnosis, and treatment of porphyria.

Types:

There are several types of porphyria, including acute intermittent porphyria, congenital erythropoietic porphyria, hereditary coproporphyria, porphyria cutanea tarda, variegate porphyria, and ALAD porphyria. Each type has its own set of symptoms and specific genetic mutations that cause the condition.

Causes:

Porphyria is caused by mutations in genes that are involved in the production of heme. These mutations can be inherited from one or both parents, or they can occur spontaneously. Some triggers for porphyria attacks include certain medications, alcohol, fasting, hormonal changes, and exposure to sunlight.

Diagnosis:

Diagnosing porphyria can be challenging because the symptoms can mimic those of other conditions. Blood, urine, and stool tests can help identify the presence of porphyrins and their byproducts. Genetic testing can also be used to confirm a diagnosis and determine the specific type of porphyria.

Treatment:

Treatment for porphyria depends on the type and severity of the condition. Acute attacks may require hospitalization and treatment with intravenous heme or glucose. Other treatments may include avoiding triggers, taking medications to reduce symptoms, and receiving regular heme infusions to prevent further attacks. In some cases, liver transplantation may be necessary.

Conclusion:

Porphyria is a rare genetic disorder that can cause a range of symptoms and complications. Early diagnosis and appropriate treatment can help manage symptoms and prevent serious complications. Genetic testing can also be helpful in identifying family members who may be at risk for inheriting the condition. Ongoing research into the causes and treatment of porphyria is essential to improving outcomes for individuals with this condition.

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Peutz-Jegher Syndrome PJS

- It's inherited in an Autosomal Dominant pattern

- Due to mutation in STK11 gene [ also known as LKB1 ] which is tumor suppressor gene. 

       →   its mutations disrupting its ability to restrain the cell division       

 

- Characterestic by development of non-cutaneous growths called hamartomatous polyps in the 

   gastrointestinal tract particulary stomach and intestine 

- The polyps have a great risk of develop cancer

features

   childern with :-

  

            * Small dark-colored spots on the lips, around and inside the mouth, near the eya, nostril and 

 

               around the anus. also may found on hands and feet and often fade as the person gets older 

           * Multiple polyps in the stomach and intestine during the childhood and adolescnce 

           * Polyps may cause recurrent bowel obstructions, chronic bleeding and abdominal pain

           * The patient has the risk of developing types of cancers as 

                    " GIT    " Pancreas       " Cervix      " Ovary      " Breast

The patient diagnosed by clinical picture

            

Whipple's disease ( intestinal lipodystrophy )

 

* It's form of malabsorption disease, caused by tropheryma whipplei organism. 

* Typically in white men of middle age 

* It's rare disease with unknown risk factors 

Symptoms 

 * The symptoms start slowly 

 

 * Joint pain is the most common early symptoms

 * GIT symptoms occure several years later 

 * Other symptoms like  

      

                " Abdominal pain    " Diarrhea   " Fever   " Darkening of skin in light exposed area of the skin

                " Joint pain [ ankle - knee - elbow - fingers - others ] 

  

                " Memory loss       " Weight loss     " mental changes 

Physical Exam 

 * Enlarged lymph nodes

 * Heart murmurs 

 * Oedema

Complications 

 * Brain damage 

 

 * Heart valve damage 

 * Weight loss

 * Symptoms return

Investigations

 * CBC      * PCR    * Fecal fat     * Albumin level       * D-xylose absorption 

*  Biopsy of small Bowel on periodic acid-schiff stain ( PAS ) → positive macrophages  in lamina 

     properia contain Non-acid fast gram +ve bacilli

 * Upper GIT  endoscopy

Treatment

* Long term antibiotics to cure against CNS infection 👇

   

             " Ceftraixone IV then TM-SM up to 1 year

             " If symptoms back during antibiotics use → may change antibiotics

* Dietary supplements for malnutrition

   

          

Coeliac disease ( Gluten Enteropathy )

 

* Inheritance patterin is unknown

* Autoimmune disease abnormall sensitive to gluten protein found in wheat, rye, barley and others 

* the risk of developing disease increased by variant HLA-DQA1 and HLA-DQB1 genes

* these genes binds to each other to form functional protein complex called antigene-binding DQαβ 

   heterodimer

* the only treatment is strict  gluten-free diet 

patterns of coeliac disease:-

( 1 ) Latent coeliac disease 

   

          * No symptoms 

          * Normal intestinal villi 

          * No Antibodies in bloodstream

( 2 ) Silent coeliac disease 

           * No symptoms  

 

           * Damaged intestinal villi

           * There are Antibodies in bloodstream

( 3 ) Refractory Sprue 

     

           * Not improve with gluten-free diet 

           * Chronic inflammation of GIT 

( 4 ) Non-classic coeliac disease 

           * No GIT symptoms 

           * Now it's more common than the classic form 

( 5 ) Symptomatic coeliac disease ( classic form )

            * Can develop at any age after start eating gluten-containing diet 

            * Result from inflammation of GIT which damages intestinal villi so it become shortened and      

              flatten out and so malabsorption occure

Symptoms:- 

    GIT  

          * Diarrhea  *malabsorption   * Weight loss   * Abdominal pain     * Abdominal distention 

   

          * Food intolerance   * Increased risk of intestinal and esophageal cancers

  Skin & General 

          * Iron deficiency anemia   * Vitamins deficiency    * Osteoprosis     * Dermatitis herpatiforms

          * Teath enemal defects      * Chronic fatigue   * Joint pain    * Poor frowth     

  

          * Delayed puberty   * Infertility   * Repeats miscariages 

  Neurological 

          * Migraine    * ADHD    * Recurrent seziures 

How to manage refractory celiac disease

1-  In patients believed to have celiac disease who have persistent or recurrent symptoms or signs, the 

initial diagnosis of celiac disease should be confirmed by review of prior diagnostic testing, including 

serologies, endoscopies and histologic findings.

2-  In patients with confirmed celiac disease with persistent or recurrent symptoms or signs (nonresponsive celiac disease), ongoing gluten ingestion should be excluded as a cause of these symptoms with serologic testing, dietitian review, and detection of immunogenic peptides in stool or urine. EGD with small bowel biopsies should be performed to look for villous atrophy. If villous atrophy persists or the initial diagnosis of celiac disease was not confirmed, consider other causes of villous atrophy, including common variable immunodeficiency, autoimmune enteropathy, tropical sprue and medication-induced enteropathy.

3-  For patients with nonresponsive celiac disease, after exclusion of gluten ingestion, perform a systematic evaluation for other potential causes of symptoms, including functional bowel disorders, microscopic colitis, pancreatic insufficiency, inflammatory bowel disease, lactose or fructose intolerance and small intestinal bacterial overgrowth.

4-  Use flow cytometry, immunohistochemistry and T-cell receptor rearrangement studies to distinguish between subtypes of refractory celiac disease and to exclude enteropathy-associated T-cell lymphoma. Type 1 refractory celiac disease is characterized by a normal intraepithelial lymphocyte population and type 2 is defined by the presence of an aberrant, clonal intraepithelial lymphocyte population. Consultation with an expert hematopathologist is necessary to interpret these studies.

5-  Perform small bowel imaging with capsule endoscopy and computed tomography or magnetic resonance enterography to exclude enteropathy-associated T-cell lymphoma and ulcerative jejunoileitis at initial diagnosis of type 2 refractory celiac disease.

6-  Complete a detailed nutritional assessment with investigation of micronutrient and macronutrient deficiencies in patients diagnosed with refractory celiac disease. Check albumin as an independent prognostic factor.

7-  Correct deficiencies in macro- and micronutrients using oral supplements and/or enteral support. Consider parenteral nutrition for patients with severe malnutrition due to malabsorption.

8-  Corticosteroids, most commonly open-capsule budesonide or, if unavailable, prednisone, are the medication of choice and should be used as first-line therapy in either type 1 or type 2 refractory celiac disease.

9-  Patients with refractory celiac disease require regular follow-up by a multidisciplinary team, including gastroenterologists and dietitians, to assess clinical and histologic response to therapy. Identify local experts with expertise in celiac disease to assist with management.

10-  Patients with refractory celiac disease without response to steroids may benefit from referral to a center with expertise for management or evaluation for inclusion in clinical trials.

 

           

Burkkit's Lymphoma

 

Liddle's Syndrome

 

• it's inherited form of hypertension

• it's inherited in the form of Autosomal dominant pattern
• it's caused by mutation in the  SCNN1A, SCNN1B, SCNN1G genes
• these genes provide instruction for making subunit of protein complex called epithelial sodium channel ( ENaC ) may found on surface of kidney cells

• Normally ENaC open in response to signals that Na level in the blood is too low, which allow reabsorption of Na back to the bloodstream

• if mutations occure, the ENaC will increase on cell surface leading to increase Na reabsorption and K exceartion

Features :- 

• Begins usually early in life often in the childhood, some people aren't diagnosed until adulthood

• may be no additional signs or symptoms, but overtime if untreated, may develop heart disease or cerebrovascular accidents

• may suffer from signs and symptoms of hypokalemia as

                                      * muscle weakness

                                      * fatigue

                                      * constipation

                                      * heart palpitations

                                     * metabolic alkalosis