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Symptoms can vary greatly, but they include a persistent dry cough.
Failure to have a pulmonary sequestration removed can lead to a number of complications. These include:
- Hemorrhage that can be fatal.
- The creation of a left-right shunt, where blood flows in a shortcut through the feed off the aorta.
- Chronic infection. Diseases such as bronchiectasis, tuberculosis, aspergillosis, bronchial carcinoid and bronchogenic squamous cell carcinoma.
The main symptom is usually severe central chest pain. Other symptoms include laboured breathing, voice distortion (as with helium) and subcutaneous emphysema, specifically affecting the face, neck, and chest. Pneumomediastinum can also be characterized by the shortness of breath that is typical of a respiratory system problem. It is often recognized on auscultation by a "crunching" sound timed with the cardiac cycle (Hamman's crunch).
Pnemomediastinum may also present with symptoms mimicking cardiac tamponade as a result of the increased intrapulmonary pressure on venous flow to the heart.
Three quarters of affected patients are asymptomatic. However, 25% develop cyanosis, pneumothorax, and show signs of increased breathing difficulty ( tachypnoea and intercostal retractions).
At examination, they may show hyper-resonance at percussion, diminished vesicular murmur and an asymmetrical thorax.
Congenital pulmonary airway malformation (CPAM), formerly known as congenital cystic adenomatoid malformation (CCAM), is a congenital disorder of the lung similar to bronchopulmonary sequestration. In CPAM, usually an entire lobe of lung is replaced by a non-working cystic piece of abnormal lung tissue. This abnormal tissue will never function as normal lung tissue. The underlying cause for CPAM is unknown. It occurs in approximately 1 in every 30,000 pregnancies.
In most cases the outcome of a fetus with CPAM is very good. In rare cases, the cystic mass grows so large as to limit the growth of the surrounding lung and cause pressure against the heart. In these situations, the CPAM can be life-threatening for the fetus. CPAM can be separated into five types, based on clinical and pathologic features. CPAM type 1 is the most common, with large cysts and a good prognosis. CPAM type 2 (with medium-sized cysts) often has a poor prognosis, owing to its frequent association with other significant anomalies. Other types are rare.
In medicine, hepatopulmonary syndrome is a syndrome of shortness of breath and hypoxemia (low oxygen levels in the blood of the arteries) caused by vasodilation (broadening of the blood vessels) in the lungs of patients with liver disease. Dyspnea and hypoxemia are worse in the upright position (which is called platypnea and orthodeoxia, respectively).
Pneumomediastinum (from Greek "pneuma" – "air", also known as mediastinal emphysema) is (abnormal presence of air or other gas) in the mediastinum. First described in 1819 by René Laennec, the condition can result from physical trauma or other situations that lead to air escaping from the lungs, airways, or bowel into the chest cavity.
The hepatopulmonary syndrome is suspected in any patient with known liver disease who reports dyspnea (particularly platypnea). Patients with clinically significant symptoms should undergo pulse oximetry. If the syndrome is advanced, arterial blood gasses should be measured on air.
A useful diagnostic test is contrast echocardiography. Intravenous microbubbles (> 10 micrometers in diameter) from agitated normal saline that are normally obstructed by pulmonary capillaries (normally <8 to 15 micrometers) rapidly transit the lung and appear in the left atrium of the heart within 7 heart beats. Similarly, intravenous technetium (99mTc) albumin aggregated may transit the lungs and appear in the kidney and brain. Pulmonary angiography may reveal diffusely fine or blotchy vascular configuration. The distinction has to be made with an intracardiac right-to-left shunt.
Respiratory disease is a medical term that encompasses pathological conditions affecting the organs and tissues that make gas exchange possible in higher organisms, and includes conditions of the upper respiratory tract, trachea, bronchi, bronchioles, alveoli, pleura and pleural cavity, and the nerves and muscles of breathing. Respiratory diseases range from mild and self-limiting, such as the common cold, to life-threatening entities like bacterial pneumonia, pulmonary embolism, acute asthma and lung cancer.
The study of respiratory disease is known as pulmonology. A doctor who specializes in respiratory disease is known as a pulmonologist, a chest medicine specialist, a respiratory medicine specialist, a respirologist or a thoracic medicine specialist.
Respiratory diseases can be classified in many different ways, including by the organ or tissue involved, by the type and pattern of associated signs and symptoms, or by the cause of the disease.
Cyanotic heart defect is a group-type of congenital heart defect (CHD) that occurs due to deoxygenated blood bypassing the lungs and entering the systemic circulation or a mixture of oxygenated and unoxygenated blood entering the systemic circulation. It is caused by structural defects of the heart (i.e.: right-to-left, bidirectional shunting, malposition of the great arteries), or any condition which increases pulmonary vascular resistance. The result being the development of collateral circulation.
According to a study in cyanotic congenital heart disease (CCHD) in Sohag University, Upper Egypt. 50 neonates were diagnosed as suffering from cyanotic congenital heart disease (CCHD), they concluded that cyanotic congenital heart disease (CCHD) frequency was significant (9.5%) with D-TGA being the commonest type. Majority of neonates with Cyanotic congenital heart disease (CCHD) showed survival with suitable management.
Chronic respiratory diseases (CRDs) are diseases of the airways and other structures of the lung. This disease could be characterized by a high inflammatory cells recruitment (neutrophil) and/or destructive cycle of infection, (e.g. mediated by "Pseudomonas aeruginosa"). Some of the most common are asthma, chronic obstructive pulmonary disease, or acute respiratory distress syndrome . CRDs are not curable, however, various forms of treatment that help dilate major air passages and improve shortness of breath can help control symptoms and increase the quality of life for people with the disease.
it usually lasts for three months to two years
Embryogenically, congenital hepatic fibrosis is due to malformation of the duct plate, a round structure appearing in the eighth week of gestation that is formed by primitive hepatocytes, which differentiate into cholangiocytes. Congenital hepatic fibrosis usually presents in adolescent or young adulthood, but onset of signs and symptoms can range from early childhood through mid-life. Clinical features may vary but commonly include Cholangitis, hepatomegaly and signs of portal hypertension.
Congenital hepatic fibrosis is an inherited fibrocystic liver disease associated with proliferation of interlobular bile ducts within the portal areas and fibrosis that do not alter hepatic lobular architecture. The fibrosis would affect resistance in portal veins leading to portal hypertension.
Hoarseness is the most common presenting symptom, while pain, stridor or laryngeal obstruction are unusual complaints. They may cause significant respiratory obstruction leading to dyspnoea or respiratory distress and even cyanosis, and jugular and epigastric retractions. Congenital lesions may present with severe airway obstruction at birth calling for emergency intervention and intubation.
Subglottic stenosis is a congenital or acquired narrowing of the subglottic airway. Although it is relatively rare, it is the third most common congenital airway problem (after laryngomalacia and vocal cord paralysis). Subglottic stenosis can present as a life-threatening airway emergency. It is imperative that the otolaryngologist be an expert at dealing with the diagnosis and management of this disorder. Subglottic stenosis can affect both children and adults.
Subglottic stenosis can be of three forms, namely congenital subglottic stenosis, idiopathic subglottic stenosis (ISS) and acquired subglottic stenosis. As the name suggests, congenital subglottic stenosis is a birth defect. Idiopathic subglottic stenosis is a narrowing of the airway due to an unknown cause. Acquired subglottic stenosis generally follows as an after-effect of airway intubation, and in extremely rare cases as a result of gastroesophageal reflux disease (GERD).
Subglottic stenosis is graded according to the Cotton-Meyer classification system from one to four based on the severity of the blockage.
Grade 1 – <50% obstruction
Grade 2 – 51–70% obstruction
Grade 3 – 71–99% obstruction
Grade 4 – no detectable lumen
Treatments to alleviate the symptoms of subglottic stenosis includes a daily dose of steroids such as prednisone, which reduces the inflammation of the area for better breathing. Other medications such as Methotrexate is also being tested by patients but results are pending.
Laryngeal cysts are cysts involving the larynx or more frequently supraglottic locations, such as epiglottis and vallecula. Usually they do not extend to the thyroid cartilage. They may be present congenitally or may develop eventually due to degenerative cause. They often interfere with phonation.
The four men and two women were all diagnosed at middle age. The symptoms were slowly and steadily progressive. Telangiectasias developed over the face, trunk and arms. Increased serum erythropoietin levels, eventually exceeding 5000 mU /ml, preceded the intrapulmonary shunting and the development of hypoxemia. Sampling of the perinephric fluid revealed a clear, serous fluid with low levels of protein, few leukocytes and no cholesterol or triglycerides. An IgG monoclonal gammopathy was implicated in the four patients tested (with an associated kappa light chain in all three patients tested). Spontaneous venous thromboses occurred in three patients, two of whom also had spontaneous intracranial bleeding in the absence of blood vessels malformations.
Since then more patients with the syndrome have been reported.
Caplan syndrome presents with cough and shortness of breath in conjunction with features of rheumatoid arthritis, such as painful joints and morning stiffness.
Examination should reveal tender, swollen metacarpophalangeal joints and rheumatoid nodules; auscultation of the chest may reveal diffuse râles that do not disappear on coughing or taking a deep breath.
Caplan syndrome is a nodular condition of the lung occurring in dust-exposed persons with either a history of rheumatoid arthritis (RA) or who subsequently develop RA within the following 5–10 years. The nodules in the lung typically occur bilaterally and peripherally, on a background of simple coal workers' pneumoconiosis. There are usually multiple nodules, varying in size from 0.5 to 5.0 cm. The nodules typically appear rapidly, often in only a few weeks. Nodules may grow, remain unchanged in size, resolve, or disappear and then reappear. They can cavitate, calcify, or develop air-fluid levels. Grossly, they can resemble a giant silicotic nodule. Histologically, they usually have a necrotic center surrounded by a zone of plasma cells and lymphocytes, and often with a peripheral inflammatory zone made of macrophages and neutrophils.
Among some of the symptoms consistent with pulmonary valve stenosis are the following:
- Heart murmur
- Cyanosis
- Dyspnea
- Dizziness
- Upper thorax pain
- Developmental disorders
TEMPI Syndrome is a novel orphan disease where the person share five characteristics from which the acronym is derived: telangiectasias, elevated erythropoietin and erythrocytosis, monoclonal gammopathy, perinephric fluid collection, and intrapulmonary shunting.
Aplasia cutis congenita (ACC) is a rare disorder characterized by congenital absence of skin. Frieden classified ACC in 1986 into 9 groups on the basis of location of the lesions and associated congenital anomalies. The scalp is the most commonly involved area with lesser involvement of trunk and extremities. Frieden classified ACC with fetus papyraceus as type 5. This type presents as truncal ACC with symmetrical absence of skin in stellate or butterfly pattern with or without involvement of proximal limbs.]It is the most common congenital cicatricial alopecia, and is a congenital focal absence of epidermis with or without evidence of other layers of the skin.
The exact etiology of ACC is still unclear but intrauterine infection by varicella or herpes virus, drugs such as methimazole, misoprostol, valproate, cocaine, marijuana etc., fetus papyraceus, feto-fetal transfusion, vascular coagulation defects, amniotic membrane adherence, abnormal elastic fiber biomechanical forces and trauma are implicated. It can be associated with Johanson-Blizzard syndrome, Adams-Oliver syndrome, trisomy 13, and Wolf-Hirschhorn syndrome.
It can also seen with exposure to methimazole and carbimazole in utero. This dermatological manifestation has been linked to Peptidase D haploinsufficiency and a deletion in Chromosome 19.
Caplan's syndrome (or Caplan disease or Rheumatoid pneumoconiosis) is a combination of rheumatoid arthritis (RA) and pneumoconiosis that manifests as intrapulmonary nodules, which appear homogenous and well-defined on chest X-ray.
Individuals with the condition of fungal sinusitis mostly present with features that include facial pain and pain around the eyes, nasal congestion, rhinorrhea(running nose), headache, later there may be ophthalmoplegia (paralysis of ocular muscles).
The types of fungal sinusitis are based on "invasive" and "non-invasive" as follows:
- Invasive
- Non Invasive