Shiny Alugula

BRIDGING PBL NAME:SHINY ALUGULA. GROUP:27 TUTOR:TAMAR PERTAIA. DIANA ABHMEDONA PATIENT PRESENTATION Diana Akhmedova is a 7-year-old girl. Her nanny Abigail has brought Diana to the Children’s Emergency Department. Abigail explains that Diana had returned from school crying, short of breath and unable to do much apart from slumping exhausted in a chair. DISCUSSION QUESTIONS: 1.What key information is relevant to Diana’s case? *Name-diana akhmedova *Age-7years old *Gender-female *Crying,’shortness of breadth,slumping exhausted in a chair. 2.Summarise Diana’s problems.? *shortness of breadth (dyspnea): Dyspnea in children has important physical and psychosocial impact. It is useful to define the quality of the dyspnea and quantify its magnitude in a child-friendly manner. Through careful history taking .physicalexamination, a targeted investigation can lead to identification of the cause and potential treatment. *Slumping exhausted in chair : it means child is fatique . *crying may be some pain that she can’t explain. 3.Hypothesis to possible explanations for? *Anemia hemoglobin is an iron-rich protein that helps red blood cells . If you have anemia, your body does not get enough oxygen-rich blood. This can cause you to feel tired or weak. You may also have shortness of breath, dizziness In case of Diana, She may have shortness of breath and fatigue due to anemia. *Anxiety disorder- anxiety disorders frequently have intense, excessive and. persistent worry and fear about everyday situations. Often, anxiety disorders involve repeated episodes of sudden feelings of intense anxiety and fear or terror that reach a peak within minutes (panic attacks). In case of Diana she is crying and also doing nothing and short of breath. It may be signs of anxiety. *respiratory problems :COPD like asthma,chronic bronchilits. *cardiovascular problems: cardiomyopathy HISTORY Abigail told that Diana had intense physical training sessions in school today. It was a Sports day. She also noticed before that Diana often looked pale and very tired by the end of the school day, but she has never seen Diana in such condition like today DISCUSSION QUESTIONS 1.new information do you have about Diana’s problems? *intense physical training *often looked pale *every she look tired has never seen in such condition like today. 2.Does any of this information make any of your group's hypotheses more or less likely? *Yes, this information make my hypotheses it might be any anemia kind- conditions. 3.Are there any new hypotheses? If so, provide a rationale Looking tired,pale may be patient *Sleep problems: This makes sense, obviously, since if a child doesn’t get enough sleep, or good enough sleep, they will be tired. There are lots of ways this can happen, such as: Staying up later than they should for homework or whatever reason. Children need at least 8 to 10 hours of sleep a night; if they are getting less, it catches up with them. waking up frequently during the night, whether it’s because they are a light sleeper or because of a sleep disorder *Sleep apnea: or pauses in breathing that happen during sleep. The most common cause is enlarged tonsils or adenoids, but there are other causes as well. *Side effects of medications :Many medications can cause sleepiness, including common allergy medications. *Infections, such as Epstein-Barr virus :There are some infections that can make children very tired, and some of them can last for weeks or months. *Chronic illnesses, such as asthma: .When chronic illnesses are in poor control, they can cause fatigue. The reason for the fatigue depends on the illness. For example, children with poorly controlled asthma can feel frequent shortness of breath, which makes them feel tired. For some illnesses, feeling tired may be the first clue something is wrong. *The red cells in the blood carry oxygen to the cells in the body. When there aren’t enough of them, it causes fatigue. *Heart problems : This is very rare in children, but if the heart is weak, it can cause fatigue. *Cancer or other serious diseases: These too are very rare, but feeling tired can be one of the early symptoms. *Depression, anxiety, or other mental health problems: When life feels hard for children, for whatever reason, they may feel it and express it as fatigue. This is much more common than many of the medical reasons listed above. Just as adults can have persistent fatigue without any clear medical reasons, children can as well. Children can feel so tired that they have trouble with normal activities such as school, sports, or playing with friends. 1.What information would you seek from a physical examination that would help you refine your hypotheses? *New info- Diana had intense physical training, often looked pale, and very tired *As of now nothing is conclusive to say it supports our current hypothesis. *No I can’t think of any other hypothesis unless I get more information. *From physical examination I would seek for Inspection of the chest for general appearance posture, breathing effort, nails, skin, lips, anterior and posterior thorax palpation for any outgrowth or any deformity or a hollow cavity, trachea, thoracic muscle, tactile fremitus Auscultation for abnormal sounds from chest ,anterior, posterior, and lateral thorax, and Percussion for tone and diaphragmatic excursion. * Vital signs like body temperature, blood pressure, pulse, respiratory *complete blood count – is blood test to know aut evaluate all your health and wide range disorders like anemia ,thalassemia etc. PATIENTEXAMINATION Abigail agrees for Diana’s examination and remains with the girl for this period of time. Diana says: "I am very tired, I had a race. But I could not reach till the end. I had squeezing feeling in my breast". The girl looks pale and not healthy. Her mucous membranes and the palm of her hands are very pale. The examination revealed following information: - respiratory rate 32 breaths / minute at rest - heart rate of 130 beats / min apex beat shifted by 2 cm towards the left anterior axillary line and strongly felt - auscultation of the lungs reveals normal breath sounds. 3.Are there any new hypotheses? Anemia :condition in which you lack enough healthy red blood cells to carry adequate oxygen to your body's tissues. Having anemia can make you feel tired and weak.There are many forms of anemia, each with its own cause. Anemia can be temporary or long term, and it can range from mild to severe Hypertrophic cardiomyopathy : This involves abnormal thickening of your heart muscle, particularly affecting the muscle of your heart's main pumping chamber (left ventricle). The thickened heart muscle can make it harder for the heart to work properly. Hypertrophic cardiomyopathy can develop at any age, but the condition tends to be more severe if it becomes apparent during childhood. Most affected people have a family history of the disease, and some genetic mutations have been linked to hypertrophic cardiomyopathy.. Sickle cell disease: is a group of disorders that affects hemoglobin, the molecule in red blood cells that delivers oxygen to cells throughout the body. People with this disorder have atypical hemoglobin molecules called hemoglobin S, which can distort red blood cells into a sickle, or crescent, shape Sickle cells that block blood flow to organs deprive the affected organs of blood and oxygen. In sickle cell anemia, blood is also chronically low in oxygen. This lack of oxygen-rich blood can damage nerves and organs, including your kidneys, liver and spleen As in Diana case she has pale skin and shortness of breath due to Sickle cell disease and due to low oxygen she feels tired 2.Reprioritise your top 3. *sickle cell disease * cardiomopathy *anemia . Rest hypothesis we can eliminate by looking at the signs and symptoms even by the clinical features. 3. If there are new hypotheses, add then to your sketch of the mechanism underlying Diana’s *sickle cell disease: the polymerization of deoxy-HbS. The replacement of a glutamic acid by a valine residue at position 6 in the β-globin polypeptide chain characterizes the abnormal haemoglobin of SCD: HbS. At low oxygen pressure, deoxy-HbS polymerises and gets organised in long polymer fibres that deform, stiffen, and weaken the red blood cell. 4. Try and elaborate this diagram to make sense of any abnormal clinical signs exhibited by Diana *Paleness may be caused by reduced blood flow and decrease in blood number count(anemia). *On patient examination there is no symptom of cold, runny nose, fever (Symptoms of respiratory tract infection. LABORATORY INVESTIGATIONS Reference range (child) Haemoglobin concentration (Hb) 6.9 g/dL > 11 g/dL After discussion with Diana and nanny, it was decided to check blood for a full blood count (FBC). The reasons taking of blood were mentioned as: "dyspnoea, tachycardia and paleness". There was an urgent phone call from the lab in order to inform about haemoglobin indicators, the remaining indicators were still in the process. DISCUSSION QUESTIONS 1.Do these results support or eliminate any of your hypotheses? *Yes, I want to eliminate problem with respiratory problems like chronic obstructive pulmonary diseases like asthma, chronic bronchitis.because in physical examination there is normal sounds 2.Can you suggest explanations for these findings? *Here first we have to conclude here hemoglobin levels its very low(anemia) *Here I want to go give some important normal ranges of blood cells. 3.Do these results help to explain Diana’s presenting symptoms? *Yes,they do help me. *Blood hemoglobin levels in persons with sickle cell anemia are generally between 6 to 8 gms/dl (normal levels are above 11 gms/dl). Occasionally, there can be a severe drop in hemoglobin requiring a blood transfusion to correct the anemia. PATIENTPRESENTATION 2 Diana's mother - NargizAhmadova, arrives in the emergency department, calmes down her nanny, who was also worried about this situation. She explained to doctor that the diagnosis of sickle cell disease was revealed, but the girl hadn't severe attacks or manifestations of the disease. Parents did not even know that girl was sick until she was a year old. It started with swelling one of her fingers. Nanny has not been informed in order to avoid unnecessary complications. Sometimes the girl had occasional pain and soreness around the joints that mother treated using massage, relaxation, warmth and taking plenty of fluids. MECHANISMS 1.What explanation can you give for the swollen toe and occasional aches and pains? Sickle cell getting stuck in the blood vessels and blocking the flow of blood in and out of the hands and feet ans its swollen and aches and pain due to obstruction of blood flow and cause pain. 2.What other complications are possible? Anemia: It’s another common complication, which happens when sickled blood cells die faster than your body can replace them. That makes it harder for your cells to get oxygen, which can leave you feeling tired, weak, and dizzy. You can also have a fast heartbeat and trouble breathing. Anemia may also make it harder for children to grow. Acute chest syndrome: This problem happens when sickle cells block blood flow in the lungs. It’s very serious, so if you or your child has any symptoms -- fever, trouble breathing, chest pain, and cough -- get to the hospital right away. 3.Why didn’t Diana have problems from birth? Sickle cell doesn’t show any symptoms with birth and by thee age disease will progress and become worsen. LABORATORY FINDINGS Following laboratory results: HPLC(High Pressure Liquid Chromatography ) - No HbA - The main component of hemoglobin are HbS (83%) and HbF (10%) 1.What is this test? *Best way to check for sickle cell trait or sickle cell disease is to look at the blood using a method called high-performance liquid chromatography (HPLC). This test identifies which type of hemoglobin is present. To confirm the results of HPLC, a genetic test mayThe be done. 2.What do the results mean? *Adults with sickle cell trait will produce mostly normal hemoglobin A, while those with sickle cell disease (anemia) will produce mostly Hb S with no Hb A. People who have two gene copies for two different hemoglobin variants will usually produce varying amounts of both types. For example, they may produce both Hb S and Hb C but no Hb A. PATIENTPRESENTATION Diana is getting better after meeting with her mother, dyspnoea decreases, fatigue passes. Reexamination shows that breathing and heart rates returned within the normal child range. After some rest and discussion about the need for follow-up, the girl is allowed to return home with her mother. The information about the organization that is engaged in the support of families with children with similar diseases at their place of residence is given to mother. 1.How might the community group help? Yes ,community will help in many ways mainly in children physical ability and mental stability. generally and helps to communicate there problems. FURTHERDEVELOPMENTS 1.Diana is in the list at the clinic for children with sickle cell disease. 2.She arranges an appointment three months later and comes to the clinic complaining to severe hand pain. Both she and her mother, talking with doctors, say that at this time the pain much stronger. CLINICALEXAMINATION: Diana has 39 temperature. The pain is localized on the palmar surface of the right forearm (volar surface of the right forearm) . No sign of damage from bone injuries. Full Blood Count results Hb WBC Reference range (child) 8.7 g/dL 22.7 x 109 /L Platelets 230 109 /L > 11 g/dL 1.5 - 9.5 x 109/L 150 - 350 x 109 /L 1.List hypotheses for the current presentation? *Here clearly we can observe patient had high- grade hyperthermia of 39 temperature and localized pain of bones and joint without bone injuries even sickle cell disease can cause pain of the body. But high temperature along with pain may because of infection may be. *increase in WBC may be counter reaction to the treatment. 2.Explain test results? * Decrease in haemoglobin-decrease in oxygen level in the blood *increase in WBC-may be body produces more due to infection in the body. PATIENT EXAMINATION RESULTS: `The X-ray examination shows the lytic lesion of the radial bone with periosteal reaction, which is characteristic of osteomyelitis - bacterial bone infection. DISCUSSION QUESTIONS : 1. What has happened to Diana’s arm? *Osteomyelitis happens when a bacterial infection from another part of the body spreads to the bone. In children, an infection in the blood is a common cause of osteomyelitis. This is because a child's growing bones have an increased blood supply. That makes it easier for the bacteria to get into the bone. FURTHERCLINICALEVENTS: Doctor explains that general anesthesia must be done because it is necessary to make an aspiration from diseased bone in order to reveal the form of bacteria. Diana will be hospitalized and intravenous antibiotics will be injected. The girl enters pediatric haematology department. It occurs that Diana does not takes antibiotics on a regular basis and has no pneumococcal infection vaccination. Doctorsexplaine mother that Diana is very sensitive to incapsulated bacteria infection as her spleen is damaged, that is common for children with sickle cell disease. DISCUSSION QUESTIONS: 1.Why is Diana more susceptible to infection from encapsulated bacteria? Patients with sickle cell disease are prone to infections. Both children and adults with sickle cell disease are functionally asplenic, making them susceptible to infections caused by encapsulated bacteria, such as pneumococci. In adults the basis for “hyposplenism” is autoinfarction. In the earlier childhood phase of splenic enlargement, congestion caused by trapped sickled red cells apparently interferes with bacterial sequestration and killing; hence, even children with enlarged spleens are at risk for the development of fatal septicemia. Patients with sickle cell disease also are predisposed to Salmonella osteomyelitis, possibly in part because of poorly understood acquired defects in complement function 2.What is the role of the spleen? spleen's main function is to act as a filter for your blood. It recognizes and removes old, malformed, or damaged red blood cells. When blood flows into your spleen, your spleen performs "quality control"; your red blood cells must pass through a maze of narrow passages. Healthy blood cells simply pass through the spleen and continue to circulate throughout your bloodstream. Blood cells that can't pass the test will be broken down in your spleen by macrophages. Macrophages are large white blood cells that specialize in destroying these unhealthy red blood cells. Aspiration lytic bone destruction region is performed under general anesthesia. The result shows salmonella culture that is sensitive to the cephalosporin antibiotic. An intravenous injection is done with ceftriaxone the antibiotic of the same group. There is a rapid relief of fever, pain, and immobility. Diana released home, with recommendation to make an appointment with her pediatrition and in the SCD (sickle cell desease) hospital. The hospital nurceexplaines to mother and daughter that SCD symptoms may greatly vary, including different levels of pain and permanent risk of infection. The nurse explains also the rationality of prevention - oral antibiotics (Penicillin V) and immunization with pneumococcal, meningococcal and haemophilus influenza type B vaccines - all vaccinations, which are now available to children in the general order, and at a time when Diana was born have not been applied. 1.Explain management (immunization, and so on) *Supportive care - The clinical management of sickle cell disease is highly variable. As a result of improvements in supportive care, an increasing number of patients are surviving into adulthood. Approximately 50% of patients now survive beyond the fifth decade. *Penicillin- Of particular importance is prophylactic treatment with penicillin to• prevent pneumococcal infections, especially in children younger than age 5. * Hydroxyurea- A mainstay of therapy is hydroxyurea, a “gentle” inhibitor of DNA• synthesis. Hydroxyurea reduces pain crises and lessens the anemia through several effects, including 18 (1) an increase in levels of HbF; (2) an anti-inflammatory effect because of the inhibition of white cell production; (3) an increase in red cell size, which lowers the intracellular hemoglobin concentration; and (4) its metabolism to NO, a potent vasodilator and inhibitor of platelet aggregation. * BMT-Encouraging results also have been obtained with allogeneic bone• marrow transplantation, for curative. Why the penicillin? *Here in these sickle cell disease where spleen does not work properly and very tough to control infections to the body. Pencillin is to avoid any bacterial infections to the body. DIAGNOSIS SICKLE CELL DISEASE THAT LEADS TO SALMONELLA (osteomyelitis) CONCLUSION Diana is 7years old girl had sickle cell disease *She had intense physical training and its cause dehydration and low blood supplyntense physical training in school. It causes dehydration and increased oxygen demand of body which are the triggers of Sickle cell disease symptoms * After 3 months she again Develop complication of SCD but this time it is infection of bone by Salmonella Spp (Osteomyelitis) *She never received Immunization with Pneumococcal, Meningococcal Vaccine which are mandatory in SCD patient *On treatment with Ceftriaxone Antibiotic She got rapid relief from Fever, Pain and immobilization. REFFERENCES * Moore clinically oriented anatomy *Guyton and Hall Textbook of Medical Physiology * Ashley-Koch A, Yang Q, Olney RS. Sickle hemoglobin (HbS) allele and sickle cell disease: a HuGE review. Am J Epidemiol. 2000 May 1;151(9):83945. Review. Citation on PubMed *MT, Sachdev V, Jison ML, Shizukuda Y, Plehn JF, Minter K, Brown B, Coles WA, Nichols JS, Ernst I, Hunter LA, Blackwelder WC, Schechter AN, Rodgers GP, Castro O, Ognibene FP.Pulmonary hypertension as a risk factor for death in patients with sickle cell disease. N Engl J Med. 2004 Feb 26;350(9):886-95. *chnog JB, Duits AJ, Muskiet FA, ten Cate H, Rojer RA, Brandjes DP. Sickle cell disease; a general overview. Neth J Med. 2004 Nov;62(10):364-74. Review. Citation on PubMed *Serjeant GR. The emerging understanding of sickle cell disease. Br J Haematol. 2001 Jan;112(1):3-18. Review. Citation on PubMed *Stuart MJ, Nagel RL. Sickle-cell disease. Lancet. 2004 Oct 915;-):1343-60. Review. Citation on PubMed *Vichinsky E. New therapies in sickle cell disease. Lancet. 2002 Aug 24;-):629-31. Review.