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Showing posts from December, 2016

Paget's disease of bone: Treatments

Bisphosphonate promotes the healing of osteolytic lesions and improves the histological features of the bone, so some clinicians believe that bisphosphonates should be prophylactically applied to prevent complications in young patients. However, there is a lack of data on whether this approach improves the long-term outcome. There is also insufficient data on whether maintaining ALP levels in the normal range reduces the risk of complications. In the 2009 PRISM study, bone pain control and maintenance of ALP normal range were compared between symptomatic treatment group and intensive bisphosphonate treatment group. In the group receiving symptomatic treatment alone, 50% maintained normal ALP for 2-4 years, and in the intentive treatment group, 80% could maintain normal ALP. However, there was no significant difference in rate of fractures, orthopedic procedure, and quality of life between the two groups. In the intensive treatment group, follow-up studies were performed in patients wit...

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 ...

Primary adrenocortical insufficiency: Diagnosis & Treatments

Diagnosis The most important diagnosis is the rapid ACTH stimulation test. This is a screening test to measure plasma cortisol and aldosterone 30-60 minutes after the administration of 250 ug of synthetic ACTH. Normal criteria were cortisol> 18 ug / dL or more than 7 ug / dL, aldosterone> 5 ng / dL or more. In the case of primary insufficiency, both cortisol and aldosterone did not respond. In case of secondary insufficiency, there was no cortisol response and aldosterone response was normal. Confirmatory test is a standard (prolonged) ACTH stimulation test, and continuous 24hr infusion is performed and measured. In addition, plasma ACTH levels are helpful for diagnosis. In the case of primary, the ACTH level is over 250 pg / mL, and in the case of secondary, it is in the range of 0-50 pg / mL. Treatments Treatment is hormone replacement. Primary adrenal insufficiency should supply both glucocorticoids and mineralocorticoids. Secondary adrenal insufficiency should be suppleme...

Primary adrenocortical insufficiency: Symptoms & Causes

Causes The causes of primary adrenocortical insufficiency can be divided into the following five categories; Gland destruction (chronic & acute), impaired hormone production, ACTH-blocking antibodies, mutation of ACTH receptor gene, adrenal hypoplasia congenital. More than 90% of both glands must be destroyed before adrenal insufficiency develops. The most common cause of gland destruction is tuberculosis infection in Korea, and the most common cause of gland destruction is caused by autoimmune among idiopathic atrophy. This autoimmune destruction is due to cytotoxic T lymphocyte. Other causes of gland destruction include surgical removal, tuberculosis, infection with fungi and viruses, hemorrhagic infarction due to anticoagulation, and invasion of the tumor. Secondary adrenocortical insufficiency is a disease that lacks ACTH in the pituitary. Therefore, hypothyroid-pituitary disease-induced hypopituitarism, exogenous steroids, or endogenous steroids produced by tumors may cause...

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...

Grave's disease: Symptoms, Diagnosis, Treatments

Symptoms In Graves' disease, all of the clinical features of thyrotoxicosis mentioned above may occur. In addition, diffuse thickening of the thyroid gland, protrusion of the eye, lid retraction, lid lag, ocular motility disorder, optic nerve disorder may occur. The patient seemed to have a slight protrusion of the eyeball, and the professor asked him to try the thyroid gland, but he could definitely touch the enlarged thyroid gland. Among the clinical features mentioned above, thyroid ophthalmopathy is a characteristic feature of Graves' disease, which is not seen in other thyrotoxicosis. It is caused by thickening of the autoantibody in the extraocular muscle and elevation of the intraocular pressure. It is rarely seen in other thyroid diseases with autoantibody besides Graves' disease. Diagnosis The first thing to do in a patient suspected of elevated thyroid function is to measure TSH and free T4. If TSH decreases and free T4 increases, it can be classified as prima...

Prolactinoma: Treatments

Lactotroph adenoma (prolactinoma) is a pituitary adenoma that secretes prolactin. It is called a macroadenoma if the size is more than 1 cm and a microadenoma if it is smaller than 1 cm. Treatment is essential if the size of the adenoma is large enough to cause a neurologic symptom such as headache or visual impairment. It is also advisable to treat the adenoma if it goes beyond the sella or if the size continues to increase. Prolactinoma is well tolerated in drug therapy compared to other types of pituitary adenomas. Dopamine agonist reduces prolactinoma size and prolactin secretion. The secretion of prolactin by Lactotroph adenoma is generally proportional to the size of adenoma. Serum prolactin values ​​are usually no greater than 200 ng / mL for diameters less than 1 cm, 200 to 1000 ng / mL for diameters of 1.0 to 2.0 cm, and between 1000 ng / mL to 50,000 ng / mL for diameters exceeding 2 cm, ML. However, prolactinomas with poor differentiation do not secrete prolactin in large am...

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...

Diabetes mellitus(DM): Treatments

The treatment of DM depends on the type of DM. In the case of DM type I, insulin deficiency arising from the destruction of B cells due to autoimmunity is a direct problem. On the other hand, DM type II does not regulate blood glucose by insulin resistance. Therefore, treatment should be different according to etiology. Treatment of DM type I is aimed at lowering blood glucose by injecting insufficient insulin from the outside. Insulin is an injectable drug, and it is the most definitive hypoglycemic agent. However, there are problems such as hypoglycemia and weight gain. Human insulin and insulin analogue are present as insulin types. Regular insulin, which has a short duration in human insulin, can be expected to lower the blood sugar level for one meal because it takes about 1-2 hours. The human insulin intermediate type NPH insulin is available and has a working time of 12 hours. Insulin analogues include insulin lipro, insulin aspart, insulin glulisine, insulin detemir, and susta...

Diabetes mellitus(DM): Symptoms & Diagnosis

Diabetes mellitus is one of the most common diseases in our society. The American Diabetes Association (ADA) recommends that one of the following four tests be used to diagnose DM: glycated hemoglobin (A1C), fasting plasma glucose (FPG), random elevated glucose with symptoms, or abnormal oral glucose Tolerance test. In addition, people with impaired fasting glucose or impaired glucose tolerance are known to have a high rate of progression to DM and should receive periodic diagnostic tests. Symptoms Clinical symptoms are known to vary according to the type of DM. In general, DM type II is the most common type of DM occurring in adults (> 90%), which can be expressed by hyperglycemia and insulin resistance. The most typical clinical symptoms are asymptomatic and hyperglycemia. Many patients do not have any special symptoms, but hyperglycemia is often seen in screening tests such as health screenings. Asymptomatic patients have more than 126 mg / dL of fasting plasma glucose (FPG), ...

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...

Fever of unknown origin(FUO): Causes, Work-ups & Managements

The febrile illness, for which clinically clear etiology is not known, is often referred to as the Fever of unknown origin (FUO), but the use of the term is not clearly defined. Most febrile illness comes about before diagnosis, or before showing any characteristic findings that may lead to diagnosis. In the end, FUO is a persistent febrile illness that does not establish etiology even though it uses intensive evaluation and diagnostic tools. Causes The most common causes of FUO are infection, neoplasm, connective tissue disease, miscellaneous disease, and undiagnosed condition. First, there may be a number of infectious agents such as abscess, endocarditis, tuberculosis, and extrapulmonary tuberculosis is one of the most common causes of FUO. Malignant lymphoma is the most common cause of neoplasm, and hematologic malignancies, solid tumors, and benign tumors may be the cause of FUO. Noninfectious inflammatory disease is also a common cause of FUO, other than miscellaneous conditio...

Fibromyalgia: Symptoms, Diagnosis & Treatments

Fibromyalgia is a disease that affects about 2-8% of the population. The name itself means muscle and connective tissue pain, which is a painful disease. Once the diagnosis criteria were first determined, they were set once in the 1990s, and in 2010 new diagnostic criteria were set. Symptoms & Diagnosis In 1990, pain was seen in four quadrants of the body, lasting more than three months, and specifying 18 tender points in the body to determine how painful it was. In addition, the concept of this tender point disappeared in 2010, and the widespread pain index (WPI-19 body parts, 2-week pain experience) and symptom severity scale (SS-severity of the person's fatigue, unrefreshed waking, cognitive symptoms, And general somatic symptoms: 12 points, total of 3 points). Based on this, WPI ≥ 7 and SS ≥ 5 OR WPI 3-6 and SS ≥ 9, symptoms persisted for more than 3 months, Which can not be explained by First, it is said that the exact cause of the cause is unknown. Nowadays, the hypot...

Thrombocytopenia: Causes & Work-ups

Causes There are three major causes of Thrombocytopenia. First, there is a decrease in bone marrow production. If there is a problem in bone narrow, factors such as BM failure, adverse effect of drug, and BM infiltration can be considered. The second is splenic sequestration by splenomegaly. One-third of the platelets usually pass through the liver and spleen, and splenomegaly can increase this amount, reducing the number of platelets in the peripheral blood. Liver cirrhosis, leukemia, splenic vein thrombosis, and portal hypertension may cause splenomegaly. Finally, when platelet destruction increases, thrombocytopenia may occur, which can be further divided into immune destruction and non-immune destruction. Immunologic thrombocytopenia is caused by the removal of monocytes from the spleen of the pletelets that bind the antibody, immune complexes, and complement. The most common cause is infection and autoimmune diseases such as drug, ITP and SLE can also be induced. Non-immunologic ...

Adult onset Still's disease(AOSD): Symptoms, Diagnosis & Treatments

Adult still's disease is an inflammatory disorder with Fever, Arthritis, and Evanescent rash. Still's disease is an inherited disease in children, but it is called Adult still's disease when a similar symptom appears in patients in their 30s and 40s. It is an uncommon disease that can take up to 0.16 out of 100,000. The prevalence of men and women is globally same, but in the Orient it is known to be slightly higher in females. It affects 15 to 25 years old and develops once again at 36 and 46 years old. It has a recurrence characteristic after the onset. There is no definite explanation for the cause, but it has been pointed out that EBV and CMV are involved now. Symptoms It is characterized by a fever of over 39 degrees and shows the appearance of spiking fever. In addition, arthralgia appears in major joints such as hands, elbows, knees, and feet. Rashes are often accompanied by fever and show typical rheumatoid rash. In some cases, pericarditis and chest wallitis may...

Mixed connective tissue disease(MCTD): Symptoms, Diagnosis, Complications & Treatments

Symptoms MCTD is a disease that affects women aged 10 to 20, and it is common to have non-specific symptoms such as fatigue, myalgia, and arthralgia at first. In the end, however, there are characteristic symptoms, which differ from other connective tissue disorders as follows. First, the Raynaud phenomenon, swollen hand, and puffy finger are characteristic, and ANA shows a high tilter speckled pattern. In addition, kidney and central nervous system involvement is not often, and arthritis is a serious aspect. Unlike SLE and scleroderma, MCTD is a common symptom of pulmonary arterial hypertension. Diagnosis The anti-U1 RNP antibody is indispensable for the diagnosis of MCTD. However, this antibody is not unconditionally diagnosed. First, a positive ANA is suspected to be an early MCTD, followed by an anti-U1 RNP antibody. MCTD has a characteristic overlapping feature that tends to appear over a period of several years, and there is no universally accepted diagnostic criterion. Com...

Systemic sclerosis(SSc): Symptoms & Treatments

Systemic sclerosis is an invasion of internal organs, and can be divided into diffuse and limited. The cause is not known yet, and it is said to occur in middle-aged women. Symptoms Limited SSc has a long period of time from the appearance of Raynaud phenomenon to the appearance of scleroderma, and pulmonary HTN is the predominant systemic symptom. The associated autoantibody is known as anti-centromere and the 10-year survival rate is 75% higher than diffuse SSc. Diffuse SSc is characterized by rapid progression of the distal to proximal sclerosis and occurs simultaneously with the Raynaud phenomenon. Interstitial lung disease and kidney disease cause systemic symptoms and related autoantibody is anti-topoisomerase. The 10-year survival rate is 55%. Raynaud phenomenon is a typical clinical phenomenon, which is caused by seizure vasoconstriction induced by external stimuli such as cold, stress, and vibration. It is also a characteristic symptom of SSc in which symmetrical skin hard...

Acute attack of gouty arthritis: Symptoms, Diagnosis & Treatments

Symptoms The main symptoms of acute attack of gouty arthritis are severe pain, heat, and swelling, and the symptoms usually worsen at night. Most gouty arthritis also involve single joints. However, in this patient, polyarticular gout is observed in about 20% of cases. Most polyarticular gout patients were not treated with gout or multiple recurrence cases. Diagnosis The diagnosis of Gouty arthritis can be confirmed by puncturing the synovial fluid and observing the MSU through a polarizing microscope. Hemorrhagic leukocytosis is observed in the blood, and ESR and CRP are increased, and uric acid is increased. However, when acute gouty attack is present, uric acid may be normal. Treatments In addition, ultrasound examination can be helpful in image examination, hyperechoic linear density (double contour sign) is a powerful current feature. Acute attack The treatment of gouty arthritis is an anti-inflammatory drug. NSAIDs, colchicine, systemic / intraarticular glucocorticoids, ...

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...

Systemic lupus erythematosus(SLE): Symptoms, Diagnosis & Treatments

Symptoms Systemic lupus erythematosus (SLE) is an autoimmune disease involving multiple organs. The immune complex formed by autoantibody and autoantigen binds to various organs such as joints, skin, kidneys, and CNS and causes inflammation. The prevalence rate is high.  In most SLE patients, fatigue, fever, myalgia, and weight loss are present. In addition, there are other cutaneous lesions such as cutaneous lesions, oral or nasal ulcers, vascular disease (Raynaud phenomenon, Vasculitis, Thromboembolic disease ), Nephritis, GI symptoms (adverse medication reactions or infections), pleuritis, and life threatening diseases such as pericarditis. Diagnosis  SLE can be diagnosed according to the 2012 SLICC criteria. 11 clinical and 6 immunologic criteria, at least one criterion is met and more than 4 of 17 criteria are met. Clinical criteria include Acute cutaneous lupus, Chronic cutaneous lupus, Nonscarring alopecia, Oral or nasal ulcer, Joint disease, Serositis, Renal, Neur...

Gout: Symptoms, Diagnosis & Treatments

Symptoms Gout is a crystal-related arthropathy caused by the accumulation of monosodium urate (MSU) crystals in joints and soft tissues. Uric acid is the last metabolite of purine. When plasma urate saturation exceeds 7.0 mg / dL, it is called hyperuricemia and MSU occurs from this point. It is most common in adult men and is associated with age, BSA, weight, creatinine, alcohol, and hypertension. Gouty arthritis progresses to four stages of asymptomatic hyperuricemia, acute gouty arthritis, intercritical gout, and chronic tophaceous gout. First, asymptomatic hyperuricemia shows hyperuricemia but not arthritis, tophi, and nephrolithiasis. In acute gouty arthritis, severe pain, redness, warmth, swelling, and disability occur. Peaks appear in 12 to 24 hours, and all symptoms disappear within a few days to a few weeks. Acute gout attacks occur frequently during the night or early morning, resulting in pain that often causes them to wake up. In addition, 80% of the initial attack occurs o...

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...

Inflammatory myopathy(Polymyositis & Dermatomyositis): Diagnosis & Treatments

Diagnosis Creatine kinase (CK) is the most sensitive enzyme in the diagnosis of inflammatory myopathy among serum muscle enzymes. If the disease is active, it can increase up to 50 times normal. Generally, CK levels are proportional to disease activity, and SGOT, SGPT, LDH, and adolase are also increased. In PM, inflammation is the primary factor. T cells mainly infiltrate into the muscle bundles, surrounding normal muscle cells individually, and eventually muscle fiber necrosis and predation. MHC-I molecules are scattered in the sarcolemma, which increases the expression of MHC-I molecules in muscle fibers that are not infiltrated into CD8 + cells. The CD8 / MHC-I molecule lesion is the most essential finding in establishing the diagnosis and is a helpful finding in excluding the secondary non-specific inflammatory muscle disease. If the disease is chronic, connective tissues increase and may react positively to alkaline phosphate Inflammatory myopathy is characterized by an increa...

Eosinophilic granulomatosis with polyangitis(EGPA; Churg-Strauss syndrome): Treatments

Differential diagnosis The most common diseases are aspirin-exacerbated respiratory disease (AERD), hypereosinophilic syndrome, granulomatosis with polyangiitis (Wegener's), microscopic polyangiitis, eosinophilic pneumonia and allergic bronchopulmonary aspergillosis. In AERD, asthma, chronic rhinosinusitis with nasal polyposis, and hypersensitivity to aspirin or NSAID, which are bronchoconstriction, rhinorrhea and nasal congestion. Serum eosinophilia may also increase, but eosinophilic pneumonia and other organ involvement are not seen. AERD can evolve into EGPA, so proper management is essential. Chronic eosinophilic pneumonia may be difficult to differentiate because of its clinical features similar to those of EGPA. However, there is no characteristic granuloma on histologic examination and there is no other organ penetration except the lung. Patients with hypereosinophilic syndrome (HES) may have cough and pulmonary infiltration, but asthma is rare. In order to differentiate, ...

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...

Long-term treatment results of hepatoblastoma at a single institution in Taiwan.

Long-term treatment results of hepatoblastoma at a single institution in Taiwan. Hou JY, Liu HC, Yeh TC, Chen SH, Wang LY, Sheu JC, Liang DC. PMID: 19727010 From 1990 to 2004, 23 patients with Hepatoblastoma were treated at the Mackay Memorial Hospital in Taipei. The basic information of each person is summarized in table 1, and in addition to the surgery, the first line therapy was cisplatin 90 mg / m 2 / d on the first day and epirubicin 25 mg / m 2 / d on the first day to the third day. Each course was repeated every 3 weeks and Epirubicin was chosen because of its low cardiotoxicity. Carboplatin / etoposide, vincristine / cyclophosphamide / 5-fluorouracil were used as secondary agents when the cumulative toxicity of the first-line treatment became a problem. Table 2 lists information about the medicines used to treat people and their current disease status. In the first case of immediate surgical removal, 4-6 courses of post op chemotherapy were performed, of which 3 died due ...

Hepatoblastoma in children with Beckwith-Wiedemann syndrome: does it warrant different treatment?

Hepatoblastoma in children with Beckwith-Wiedemann syndrome: does it warrant different treatment? Trobaugh-Lotrario AD, Venkatramani R, Feusner JH. PMID: 24608075 In this paper, we analyzed the cases with hepatoblastoma among 56 BWS patients. Patients with Beckwith-Wiedemann Syndrome (BWS) are 2,000 times more likely to get hepatoblastoma than the average population. At the time of diagnosis of hepatoblastoma, the mean age of the patients was 6 months. Of the 26 patients, 13 were born premature. Of 31 patients, 19 had hemihypertrophy and 32 of 33 had AFP levels at diagnosis. The overall survival rate was about 75%, of which 27 out of 36 survived. Of the 25 survivors, 24 received chemotherapy and surgery. All 9 patients who had undergone routine liver cancer screening were all alive until the time of the report, suggesting a prospective study of whether BWS patients will be regularly screened for further survival after early detection.

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...

Asthma in children: Symptoms, Diagnosis & Treatments

ymptoms Asthma is characterized by reversible airway obstruction due to increased airway hyperresponsiveness due to chronic inflammation of the airways. Airway mucosal edema, mucus hypersecretion, airway smooth muscle contraction due to cough, dyspnea is an important symptom of asthma. Diagnosis The diagnosis of asthma is based on a combination of detailed history listening, examination findings, laboratory tests and in vivo tests. However, these diagnostic methods may be limited by age and patient condition. Because of the structural and physiological peculiarities of the respiratory tract, pediatric patients may have symptoms of airway obstruction such as asthma even in children younger than 2 years of age. Skin tests are possible, especially until age 2, but they are very limited, have a high dependence on blood tests, and can not be tested for asthma induction and lung function. Skin tests and maximal expiratory rate can be measured after 4 years of age. By the age of 6, almos...

Mycoplasma pneumonia: Symptoms, Diagnosis & Treatments

Mycoplasma pneumonia spreads through the respiratory system and the latency period is about 12-14 days on average. It is prevalent every three to four years, especially in autumn and winter. This is the highest incidence of childhood school children. M. pneumoniae affects respiratory ciliated epithelial cells and causes inflammation. After infection, the cold hemagglutinin response to the red blood cell I antigen begins to appear nonspecifically after one week, and increases by four times over four weeks and becomes negative after four months. The test for M. pneumonia specific antibodies includes complement binding test and immunofluorescence test, but indirect hemagglutination test is most widely used. It increases at the end of the first week after the onset and reaches its peak at 3 ~ 4 weeks and gradually decreases. Symptoms Clinical symptoms of Mycoplasma pneumonia are severe, long-standing cough and fever over 38 degrees. Headache, malaise, fever, runny nose, and sore throat ...

Hemoptysis in children: Causes, Work-ups & Managements

Hemoptysis refers to the bleeding that occurs in the lower extremities and should be differentiated from bleeding from the donor nasopharynx and gastrointestinal tract. It is important to distinguish between hemoptysis and hematemesis. Hemoptysis is bright red or rust, pH is alkaline. Usually accompanied by a cough, mixed with blood in the phlegm, frothy mucus can be seen if you see a hemoptysis. Chest pain may also accompany. On the other hand, blood clots may show crimson or brown with a coffee-ground appearance and may contain food waste. It has an acidic pH, followed by nausea and vomitting. Causes The most common causes of hemoptysis in children are respiratory infections, foreign body aspiration, and bronchiectasis. Bronchiectasis is most common in children with cystic fibrosis. Tuberculosis is the cause of bacterial infection and histoplasmosis, coccidioidomycosis, invasive pulmonary aspergillosis, aspergilloma, and stachybotrys atra are the causes of fungal infection. Trache...

Respiratory tract infection in children: Causes, Diagnosis & Treatments

A respiratory infection is the first suspicious symptom when it comes to symptoms of runny nose, cough, sputum and shortness of breath in infants and young children. The most common causative agent is a virus, which causes a cold, nasal congestion, rhinorrhea, throat injection, and cough. Viral respiratory infections are largely divided into upper respiratory infections and lower respiratory infections. Upper respiratory tract infection The infection usually involves the nose and the larynx and is accompanied by a mild or no fever. Croup is a typical disease. It is the most prevalent at 3 to 5 months of age and 2 years of age and is known to be more prevalent in men. In addition, family history is often seen. Parainfluenza was the most common causative organism, and RSV, adenovirus, and influenza were the most common causative organisms of the viral croup. In the bacterial croup, hemophilus influenza was the main causative organism. However, vaccine was developed and Moraxella catar...

Influenza in children: Symptoms, Complications & Treatments

Symptoms & Complications Influenza virus infections cause high fever, runny nose, throat, muscle aches, headache, cough, and fatigue. These symptoms typically begin 2 days later and disappear a week later. However, coughing can last for more than two weeks. Zone and vomiting can occur, especially in children. This is a rare condition in adults and has a greater severity in influenza B infection. At first, it is difficult to distinguish between cold and influenza infection, but flu can be classified into high fever and sudden fatigue. The GI symptom may be seen in some adults with H5N1 called bird flu. Complications of Influenza infection include viral pneumonia, secondary bacterial pneumonia, sinus infection, asthma and heart failure. In fact, mycoplasma infection was confirmed in this patient, and we felt the necessity to check whether the complication did not occur in influenza infection patients. If the symptoms appear to improve and then return to high temperature, this may be...

Atopic dermatitis: Symptoms & Treatments

Symptoms Atopic dermatitis is known to be caused by atopic genetics and exposure to the environment. Patients with atopic dermatitis (80 to 90%) were diagnosed before the age of five. The location and shape of the lesion vary with age, and this is very important for diagnosis. Symptoms appear around the mouth, on the cheeks, and on the outside of the limbs when under 2 years of age. There is a lot of friction between the aged 3 and adolescent, or in the folded parts (arms, neck, earlobe, armpits, etc.), and then more on the face and neck. Main symptoms are itching, location and shape of characteristic lesion, history of atopy or family history. Auxiliary symptoms include dry skin, pore keratosis, skin prick test positive, increased IgE, white skin necrosis, nonspecific eczema of the limbs, clefts, itching when sweating, eczema or pigmentation around the eyes, eczema around the ears, There is an increase in infection, papillary eczema, and white nasolacia in women. Atopic dermatitis is...

Kawasaki disease: Symptoms & Treatments

Symptoms Kawasaki disease is an acute vasculitis that often occurs in young children. When left untreated, coronary aneurysm is known to occur in about 20% of patients. The exact cause of Kawasaki disease has not yet been elucidated, and there is a hypothesis that patients with genetic predisposition, especially those with Asians, are more likely to develop Kawasaki disease. There are characteristic clinical findings, which are diagnostic criteria. First, there is a high fever lasting more than five days. Palms or soles swollen and red. There are rashes of various shapes and sizes in the skin and itchy. Bilateral conjunctival hyperemia is seen, but there is no glare. There may be flushing and cracking of the lips, bleeding, and redness in the strawberry and oral mucous membranes. Cervical lymph node enlargement may also be seen. Treatments IVIg and aspirin are mainly used for treatment. High-dose aspirin and IVIg are given to the acute phase. When the fever completely falls from 48...

Bronchiolitis: Symptoms & Treatments

Symptoms Bronchiolitis is an inflammation of the bronchiole, which is a clinical symptom of lower respiratory tract infection, dyspnea and wheezing or rale following viral upper respiratory infections in infants under 2 years of age. Occlusive occlusion may cause overexcessing of the lungs and hypoxia (SaO2 <95), accompanied by pharyngitis and acute otitis media. Severe infants can have cyanosis due to difficulty breathing, and even wheezing can become inaudible if the airway is completely blocked. The most common causative organism is RSV, but there are viruses such as metapneumovirus, parainfluenza, and adenovirus, and bacteria such as chlamydia and tuberculosis. Patients with severe symptoms (persistent dyspnea, SpO2 <95%, acute respiratory failure, unable to eat, shrinking, and needing water replenishment) require inpatient treatment. Diagnosis is suspected when the infant under 2 years of age is healthy but wheezing is present for the first time. Hyperinflation on x-ray ma...

Viral meningitis: Causes, Symptoms, Daignosis & Treatments

Causes & Symptoms When we look at viral meningitis, symptoms are similar to bacterial meningitis, but they are usually much weaker. Neurological symptoms may be relatively low or absent. However, in neonates, herpes simplex virus meningitis is associated with a higher risk of severe systemic diseases such as pneumonia, hepatitis, and myocarditis. When infected with enteroviruses (poliovirus, coxsackievirus, echovirus, numbered enteroviruses), which are the most common cause of viral meningitis, sudden fever of 38 ~ 40 ℃ occurs in more than half of cases. In addition, if the child has symptoms such as conjunctivitis, pharyngitis, rash, and wrist disease, enterovirus may be suspected. Herpes simplex virus, arbovirus, lymphocytic choriomeningitis virus, influenza virus, and mumps virus. Diagnosis The Bacterial Meningitis Score (BMS) can be used to predict if the cause is due to the virus. CSF pleocytosis (WBC count ≥10 cells / μL for CSF) In children who have not received antibiot...