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Showing posts with the label pathogenesis

Diabetic ketoacidosis(DKA) & Hyperosmolar hyperglycemic hyperglycemic state(HHS)

Diabetic ketoacidosis (DKA) and hyperglycemic hyperosmolar status (HHS) are typical complications of diabetes mellitus. These are commonly characterized by insulin deficiency, volume depletion, and acid-base abnormalities. Generally, DKA has ketoacidosis associated with hyperglycemia and is known to occur mainly in diabetes mellitus (DM) type 1, but it also occurs in DM type 2 patients who do not show immunological characteristics of DM type 1. On the other hand, HHS is mainly found in DM type 2. DKA occurs well in younger patients under 65 years, whereas HHS tends to occur mainly in patients over 65 years of age Symptoms DKA generally has an acute tendency to develop for 24 hours. In some cases, DM type 1 is found through the diagnosis of DKA, but it is common in DM type 1 patients who are undergoing blood glucose control after diagnosis. Patients with DKA show nausea / vomiting and also thirst / polyuria due to hyperglycemia. In addition, increased osmolarity, dehydration, hypoten...

Paget's disease of bone: Pathogenesis & Symptoms

Pathogenesis Paget's disease of bone is characterized by increased bone remodeling and disorganization in the focal area of ​​the bone. One or more bones are involved, especially the axial skeletons pelvis (70%), femur (55%), lumbar spine (53%) and skull (42%). Paget's disease is rare in people under 55 years of age, but prevalence increases after age 55. In some countries it has been reported that 5% of women and 8% of men are lifelong. Especially in European people and rare in Africa and asian. This difference makes us suspect that this disease is not on a genetic basis. It is speculated that infections such as Paramyxovirus may act as triggers for the onset of Paget's disease. Paget's disease has a positive family history in 15% of patients, and the disease is inherited as an autosomal dominant, with incomplete penetrance. The SQSTM1 mutation is found in 40-50% of familial patients and 5-10% of sporadic disease patients. This gene codes for a protein that regulates ...

Multiple endocrine neoplasia(MEN): Pathogenesis, Symptoms & Treatments

Multiple endocrine neoplasia (MEN) is a tumor that occurs in two or more endocrine organs, and can be classified into four types: MEN 1,2,3,4. Each MEN can be inherited dominantly or sporadically without family history. The diagnosis of MEN is based on the following: (1) two or more clinical features according to the associated tumor, (2) family history, (3) genetic mutation associated with MEN, . In particular, genetic testing is crucial for the clinical diagnosis of MEN, and it is also very important for screening people who have genetic mutations in their families and for early treatment. Men type 1 (Wermer's syndrome) is characterized by the presence of parathyroids, pancreatic islets, and anterior pituitary tumors, and adrenal cortical tumors, carcinoid tumors of the foregut, meningiomas, facial angiofibromas, collagenomas, and lipomas . The prevalence of MEN1 is approximately 0.25%, ranging from 1-18% in primary hyperparathyroidism, 16-38% in pancreatic islet tumors, and les...

Osteogenesis imperfecta: Pathogenesis, Symptoms & Treatments

Pathogenesis Osteogenesis imperfect (OI), also called brittle bone disease, is a type of connective tissue disease that causes skeletal fragility and growth deficiency in the bones. Currently, several genes have been identified as contributing to the disease. However, until now, mainly OI has been involved in the collagen structure-changing mutation of COL1A1 and COL1A2, which encode α1 and α2 chains that form collagen type I It has been known as an autosomal dominant disease. Several studies have also shown that a number of genes, including BRIL, PEDF, CRTAP, P3H1, CYPB, HSP47, WNT1 and BMP1, induce OI by mechanisms other than collagen formation. Symptoms Osteogenesis imperfecta is characterized by mild trauma or multiple fractures without any external factors. OI is initially diagnosed by clinical and radiographical findings. Clinical symptoms include mild trauma fractures, long bone curves Bowing, and growth abnormalities. In addition, the characteristic clinical features may in...

CNS lupus: Symptoms, Pathogenesis & Treatments

Symptoms Neurologic and psychiatric symptoms are known to occur in 10 to 80% of SLE patients, and the patterns of these symptoms vary widely. Neurological symptoms in SLE patients are due to involvement of the nervous system at various levels, and therefore, even if they involve the nervous system in the same way, The symptoms may vary from person to person. One of the reasons for this involvement is vasculopathy in most SLE patients. Because vasculopathy causes a direct injury to the blood vessels, it also destroys the blood-brain barrier (BBB), which is thought to result in the autoantibody entering the CNS through the damaged BBB. Pathogenesis In addition, anti-neuronal Ab targeting human neuroblastoma cells is seen in 45% of patients with CNS lupus. Of course, 5% of SLE patients with anti-neuronal Ab are not associated with CNS lupus, but if this autoantibody is found, it is likely to show seizure or psychosis. Lymphocytotoxic Ab is associated with cognitive dysfunction, anti-p...

Retroperitoneal fibrosis: Symptoms, Pathogenesis, Work-ups & Treatments

Symptoms Retroperitoneal fibrosis is one of the IgG4-related disease (IgG4-RD) with increased IgG4 antibody and is a disease in which retroperitoneum fibrosis occurs over the fourth and fifth lumbar spine. It is characterized by the appearance of retroperitoneal structures, especially ureteral stenosis. The symptoms of retroperitoneal fibrosis are nonspecific, and patients present with symptoms such as dorsal non-colicky pain, fever, weight loss, and nausea. Pathogenesis The pathogenesis of IgG4-related disease is still unclear. Although IgG4-RD has been detected in patients with diseases, the name IgG4-RD has emerged, but it is still unclear whether the IgG4 antibody is pathogenic. There is also a hypothesis that an increase in IgG4 is a downward process of other more important processes. The characteristics of IgG4 related disease are autoimmune and allergic. Autoimmune aspects include autoantibodies to antigens such as lactoferrin and carbonic anhydrase in type-1 autoimmune panc...

Polymyositis: Symptoms, Pathogenesis, Diagnosis & Treatments

Symptoms Polymyositis is one of the idiopathic inflammatory myopathies characterized by proximal muscle weakness and muscle inflammation. Polymyositis is caused by cell mediated immunity due to endomysial infiltration of T cells, and thus an immune response is produced by CD8 + T cells. Clinical manifestations may vary depending on which autoantibody is involved in the disease and in which environment. The most common symptom is proximal muscle weakness or associated myalgia and muscle tenderness, as well as interstitial pulmonary disease (more frequently when anti-synthetase Ab is present), dysphagia due to esophageal muscle weakness, polyarthritis, Raynaud phenomenon symptoms May appear. Sometimes systemic sclerosis or systemic rheumatic disease features such as systemic lupus erythematosus are combined. Polymyositis is less common than dermatomyositis, but it also increases the risk of malignancy. When combined with anti-synthetase syndrome, a palmar of the finger, a mechanical han...

Antiphospholipid syndrime: Pathogenesis, Diagnosis & Treatments

Pathogenesis Antiphospholipid syndrome is an autoimmune, hypercoagulable state caused by an antiphospholipid antibody. APS causes thrombosis in the arteries and veins, and may cause miscarriage, premature birth, severe preeclampsia, etc. in connection with pregnancy. Antiphospholipid Ab includes anti-cardiolipin Ab and Lupus Anticoagulant, which bind to the phospholipid in the plasma membrane. Anti-ApoH and anti-cardiplipin Ab inhibit protein C and glycoprotein, which bind to ApoH and degrade factor V, resulting in hypercoagulable state. Lupus anticoagulant Ab binds to prothrombin and promotes the separation into thrombin. Lupus anticoagulant Ab also targets β2glycoprotein 1, which is more associated with thrombosis and has a higher thrombus risk when LA (Lupus anticoagulant) and moderate to high titer (> 40 GPLU) anticardiolipin Ab together. In addition, the antiphospholipid antibody causes decreased trophoblast viability, syntialization, and invasion, which may interfere with the...

Osteomyelitis: Symptoms, Pathogenesis, Diagnosis & Treatments

Osteomyelitis is an infectious disease localized to the bones. In this disease, especially hematogenous bone microorganisms occur frequently due to traumatic, surgical, sinusitis or periodontal disease. Epidemiplogy In a systematic review in 2012, it is known that one of 5000-700 in developed countries and one in 500-2300 in developing countries is more likely to appear in developing countries. In the United States, osteomyelitis caused by methicillin-resistant Staphylococcus aureus (MRSA) is increasing. Pathogenesis Although the mechanism of deposition has not been well known, microbial migration of endothelial cells seems to play a major role in the initiation of microbial growth. It also develops as bone marrow or cellulitis, and exudate raises intramedullary pressure to cause rupture. Subacute and chronic osteomyelitis may form intraosseous abscesses and cause suppuration and necrosis. Causes S. aureus is the most common cause of osteomyelitis in children. From 1996 to 201...

Respiratory distress syndrome(RDS): Symptoms, Diagnosis, Pathogenesis & Treatments

Diagnosis RDS is more prevalent with less maturity of the lung, so the shorter the gestational age and the smaller the birth weight, the higher the incidence. It is rarely seen in about 2% of all births, 60 ~ 80% at gestational age of less than 28 weeks, 15 ~ 30% at 32 ~ 36 weeks, 5% after 37 weeks and less than 1% at over 39 weeks. By weight, the incidence is 30-40% in very low birth weight infants less than 1500 g. There is no way to differentiate between hyaline membrane disease and surfactant after the administration of Surfactant, so it is difficult to make an accurate diagnosis, but it is likely that the HMD was mild or normal because the HMD was not seen in the initial chest x-ray photograph . Pathogenesis The pathophysiology of RDS can be summarized as follows. (1) Inhalation due to lack of surfactant; (2) Lack of air exchange in the alveoli, resulting in hypoxemia, hypercapnia, increased acidity, decreased resistance of lung compliance, decreased FRV, Physiological disturb...

Eisenmenger syndrome: Symptoms, Pathogenesis & Managements

Let's look at the Eisenmenger SD in chronological order. In the early phase, pulmonary arterial pressure rises with a noticeable increase in pulmonary blood flow. If this condition persists, it develops into a pulmonary vascular disease with pathological changes. This results in pulmonary hypertension. Pathological changes occur in small pulmonary arterioles and muscular arteries, and are divided into Grade I-VI according to histologic findings. In the early stage, medial hypertrophy occurs in Grade I, hyperplasia of intima in II, and obliteration in III. In IV, arterial dilation, V and VI eventually result in plexiform lesion, angiomatoid formation and fibrinoid necrosis. However, in the clinical setting, pulmonary artery resistance, pulmonary artery resistance, and systemic vascular resistance are observed rather than clinical course according to these histological changes. The retrospective study showed that the symptoms, syncope, poor functional class, low oxygen saturation (...

Febrile seizure: Symptoms, Pathogenesis, Diagnosis & Treatments

Symptoms Fever seizures are defined as seizures occurring in children between 6 months and 60 months with a febrile disease of greater than 38 degrees, but not due to central nervous system infection or metabolic abnormalities. A simple febrile seizure is defined as a febrile seizure that starts with a generalized tonic-clonic pattern and lasts only within 15 minutes and does not recur within 24 hours. If it does not, it is classified as a complex febrile seizure . On the other hand, if seizures continue for more than 30 minutes, they are defined as Status Epilepticus because they can cause permanent damage to the central nervous system. Pathophysiology  More than 2% to 5% of all children experience febrile seizures at any one time and most suffer from simple febrile seizures. In simple febrile convulsions, the mortality rate does not increase without leaving any sequelae of abnormal behavior or dysfunction, whereas combined febrile seizure increases the risk of death by more t...

Achalasia: Symptoms, Pathogenesis & Treatments

In Achalasia, the neurons of Esophagus are degenerated for unknown reasons. As a result, the food in the esophagus does not go over normally. Also, LES does not work properly. Usually when food comes over The LES relaxes and has to hand over the food, which is not done well and the food does not go over. Symptoms of achalasia include dysphagia, chest pain, regurgiatation, and heartburn. Treatment of Achalasia includes laparoscopic heller myotomy and endoscopic pneumodilation. Heller myotomy is a surgical technique that cuts the LES of the cardia. Laparoscopy is used to inject the surgical instrument into the abdominal cavity and excision is performed from slightly above the LES to the upper part of the cardia. The esophagus consists of several layers, in which myotomy excludes only the outer muscle layer. This is because perforation occurs when resection to the inner mucosal layer. Recently, peroral endoscopy myotomy has developed and myotomy is performed with an endoscope rathe...

Peptic ulcer disease(PUD): Symptoms, Pathogenesis, Diagnosis & Treatments

Peptic ulcer disease (PUD) is a lesion that can invade from the mucous membrane of the digestive tract to the muscularis mucosa. PUD can range from natural remission without any treatment to severe complications such as bleeding or perforation. The stomach acts to decompose the protein by the action of the acidic environment and enzymes. The stomach itself has the ability to protect the stomach wall, so this PUD is not good. Most PUDs are caused by an infection of Helicobacter pylori (H. pylori) or by the ingestion of nonsteroidal anti-inflammatory drugs (NSAIDs) that interfere with normal protective function. Pathogenesis The mechanism of ulcer formation by H. pylori is not clear, but it is thought to affect the gastrointestinal tract and its mucous membrane in four aspects. First, it increases the secretion of gastric acid. H. pylori infection increases secretion of Gastrin, a hormone that increases the secretion of gastric acid. This is because H. pylori stimulates enterochromaf...

Cervical cancer: Epidemiology & Pathogenesis

Epidemiology Cervical cancer is the third most common cancer among gynecologic cancers and the third highest among women with cancer. It has lower incidence and lower mortality rate than uterine cancer or ovarian cancer. Human papillomavirus (HPV) has been identified as the cause of cervical cancer and HPV is found in 99.7 percent of cervical cancer patients. The histologic classification of cervical cancer is 69% of patients with squamous cell type and 25% of patients with adenocarcinoma. The number of newly diagnosed cervical cancer worldwide is estimated at 528,000, and in 2012, 266,000 died of cervical cancer. The two major histologic categories of cervical cancer are squamous cell type and adenocarcinoma, as discussed above, and share a risk factor that causes both types of cancer. The incidence of cervical cancer increases at the early age of sexual life, but it increases more than 1.5 times in cases between 18 and 20 years of age. Also, the risk of developing cervical cancer ...

Endometriosis: Pathogenesis, Symptoms & Diagnosis

Endometriosis means that endometrial glands and stroma are present outside the uterus. Usually these are present in the pelvis, but they can be found in various places such as large intestine, small intestine, diaphragm, thoracic cavity. Endometriosis is not a malignancy, but ectopic endometrial tissues can cause excessive menstruation, abdominal pain, and even infertility. Endometriosis is estrogen dependent. Pathogenesis of Endometriosis Endometriosis is known to be caused by the growth of ectopic endometrial cells elsewhere and causing an inflammatory reaction. Pathogenesis is known to play a role in a variety of causes, including ectopic endometrial tissue, altered immunity, asymmetric cell proliferation and apoptosis, defective endocrine function, and genetic factors. One hypothesis that endometriosis occurs is the hypothesis that endometrial cells flow into the abdominal cavity through the fallopian tubes during menstruation (sampon's theory of retrograde menstruation). ...