Fai una domanda

Scegli la categoria

  • Anatomia 171 domande A branch of biology dealing with the structure of organisms.
  • Organismi 54 domande Any living biological entity, such as an animal, plant, fungus, or bacterium.
  • Malattie 348 domande Any impairment of normal physiological function affecting all or part of an organism, esp a specific pathological change caused by infection, stress, etc, producing characteristic symptoms; illness or sickness in general.
    • Infezioni Batteriche E Micotiche 35 domande Infections caused by bacteria and fungi, general, specified, or unspecified.
    • Malattie Virali 16 domande A general term for diseases produced by viruses.
    • Malattie Parassitarie 1 quesito Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure.
    • Neoplasie 24 domande New abnormal growth of tissue. Malignant neoplasms show a greater degree of anaplasia and have the properties of invasion and metastasis, compared to benign neoplasms.
    • Malattie Del Sistema Muscoloscheletrico 23 domande Diseases of the muscles and their associated ligaments and other connective tissue and of the bones and cartilage viewed collectively.
    • Malattie Dell'Apparato Digerente 7 domande Diseases in any part of the GASTROINTESTINAL TRACT or the accessory organs (LIVER; BILIARY TRACT; PANCREAS).
    • Malattie Stomatognatiche 5 domande General or unspecified diseases of the stomatognathic system, comprising the mouth, teeth, jaws, and pharynx.
    • Malattie Delle Vie Respiratorie 21 domande
    • Malattie Otorinolaringoiatriche 7 domande Pathological processes of the ear, the nose, and the throat, also known as the ENT diseases.
    • Malattie Del Sistema Nervoso 21 domande Diseases of the central and peripheral nervous system. This includes disorders of the brain, spinal cord, cranial nerves, peripheral nerves, nerve roots, autonomic nervous system, neuromuscular junction, and muscle.
    • Malattie Dell'Occhio 11 domande Diseases affecting the eye.
    • Malattie Urologiche E Dell'Apparato Genitale Maschile 15 domande Pathological processes of the male URINARY TRACT and the reproductive system (GENITALIA, MALE).
    • Malattie Dell'Apparato Genitale Femminile E Complicanze Della Gravidanza 8 domande Pathological processes of the female URINARY TRACT, the reproductive system (GENITALIA, FEMALE), and disorders related to PREGNANCY.
    • Malattie Del Sistema Cardiovascolare 15 domande Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM.
    • Malattie Del Sistema Ematico E Linfatico 8 domande Hematologic diseases and diseases of the lymphatic system collectively. Hemic diseases include disorders involving the formed elements (e.g., ERYTHROCYTE AGGREGATION, INTRAVASCULAR) and chemical components (e.g., BLOOD PROTEIN DISORDERS); lymphatic diseases include disorders relating to lymph, lymph nodes, and lymphocytes.
    • Malattie Ed Anomalie Neonatali 5 domande Diseases existing at birth and often before birth, or that develop during the first month of life (INFANT, NEWBORN, DISEASES), regardless of causation. Of these diseases, those characterized by structural deformities are termed CONGENITAL ABNORMALITIES.
      • Congenital Abnormalities 3 domande Malformations of organs or body parts during development in utero.
      • Malattie Fetali 0 domande Pathophysiological conditions of the FETUS in the UTERUS. Some fetal diseases may be treated with FETAL THERAPIES.
      • Malattie Genetiche Congenite 1 quesito Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero.
        • Iperplasia Surrenale Congenita 0 domande A group of inherited disorders of the ADRENAL GLANDS, caused by enzyme defects in the synthesis of cortisol (HYDROCORTISONE) and/or ALDOSTERONE leading to accumulation of precursors for ANDROGENS. Depending on the hormone imbalance, congenital adrenal hyperplasia can be classified as salt-wasting, hypertensive, virilizing, or feminizing. Defects in STEROID 21-HYDROXYLASE; STEROID 11-BETA-HYDROXYLASE; STEROID 17-ALPHA-HYDROXYLASE; 3-beta-hydroxysteroid dehydrogenase (3-HYDROXYSTEROID DEHYDROGENASES); TESTOSTERONE 5-ALPHA-REDUCTASE; or steroidogenic acute regulatory protein; among others, underlie these disorders.
        • Sindrome Di Alagille 0 domande A multisystem disorder that is characterized by aplasia of intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC), and malformations in the cardiovascular system, the eyes, the vertebral column, and the facies. Major clinical features include JAUNDICE, and congenital heart disease with peripheral PULMONARY STENOSIS. Alagille syndrome may result from heterogeneous gene mutations, including mutations in JAG1 on CHROMOSOME 20 (Type 1) and NOTCH2 on CHROMOSOME 1 (Type 2).
        • Deficit Di Alfa-1-Antitripsina 0 domande Deficiency of the protease inhibitor ALPHA 1-ANTITRYPSIN that manifests primarily as PULMONARY EMPHYSEMA and LIVER CIRRHOSIS.
        • Anemia Emolitica Congenita 0 domande Hemolytic anemia due to various intrinsic defects of the erythrocyte.
        • Anemia Ipoplastica Congenita 0 domande An inborn condition characterized by deficiencies of red cell precursors that sometimes also includes LEUKOPENIA and THROMBOCYTOPENIA.
        • Angioedemas, Hereditary 0 domande Inherited disorders that are characterized by subcutaneous and submucosal EDEMA in the upper RESPIRATORY TRACT and GASTROINTESTINAL TRACT.
        • Atassia Teleangectasia 0 domande An autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive CEREBELLAR ATAXIA; TELANGIECTASIS of CONJUNCTIVA and SKIN; DYSARTHRIA; B- and T-cell immunodeficiency, and RADIOSENSITIVITY to IONIZING RADIATION. Affected individuals are prone to recurrent sinobronchopulmonary infections, lymphoreticular neoplasms, and other malignancies. Serum ALPHA-FETOPROTEINS are usually elevated. (Menkes, Textbook of Child Neurology, 5th ed, p688) The gene for this disorder (ATM) encodes a cell cycle checkpoint protein kinase and has been mapped to chromosome 11 (11q22-q23).
        • Autoimmune Lymphoproliferative Syndrome 0 domande Rare congenital lymphoid disorder due to mutations in certain Fas-Fas ligand pathway genes. Known causes include mutations in FAS, TNFSF6, NRAS, CASP8, and CASP10 proteins. Clinical features include LYMPHADENOPATHY; SPLENOMEGALY; and AUTOIMMUNITY.
        • Disturbi Ereditari Della Coagulazione Del Sangue 0 domande Hemorrhagic and thrombotic disorders that occur as a consequence of inherited abnormalities in blood coagulation.
        • Brugada Syndrome 0 domande An autosomal dominant defect of cardiac conduction that is characterized by an abnormal ST-segment in leads V1-V3 on the ELECTROCARDIOGRAM resembling a right BUNDLE-BRANCH BLOCK; high risk of VENTRICULAR TACHYCARDIA; or VENTRICULAR FIBRILLATION; SYNCOPAL EPISODE; and possible sudden death. This syndrome is linked to mutations of gene encoding the cardiac SODIUM CHANNEL alpha subunit.
        • Cadasil 0 domande A familial, cerebral arteriopathy mapped to chromosome 19q12, and characterized by the presence of granular deposits in small CEREBRAL ARTERIES producing ischemic STROKE; PSEUDOBULBAR PALSY; and multiple subcortical infarcts (CEREBRAL INFARCTION). CADASIL is an acronym for Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy. CADASIL differs from BINSWANGER DISEASE by the presence of MIGRAINE WITH AURA and usually by the lack of history of arterial HYPERTENSION. (From Bradley et al, Neurology in Clinical Practice, 2000, p1146)
        • Camurati-Engelmann Syndrome 0 domande An autosomal dominant form of dysplasia that is characterized by progressive thickening of diaphyseal cortex of long bones. Mutations in the gene that encodes TRANSFORMING GROWTH FACTOR BETA1 are one cause of this disorder.
        • Cardiomiopatia Ipertrofica A Carattere Di Familiarità 0 domande An autosomal dominant inherited form of HYPERTROPHIC CARDIOMYOPATHY. It results from any of more than 50 mutations involving genes encoding contractile proteins such as VENTRICULAR MYOSINS; cardiac TROPONIN T; ALPHA-TROPOMYOSIN.
        • CHARGE Syndrome 0 domande Rare disease characterized by COLOBOMA; CHOANAL ATRESIA; and abnormal SEMICIRCULAR CANALS. Mutations in CHD7 protein resulting in disturbed neural crest development are associated with CHARGE Syndrome.
        • Cherubismo 0 domande A fibro-osseous hereditary disease of the jaws. The swollen jaws and raised eyes give a cherubic appearance; multiple radiolucencies are evident upon radiographic examination.
        • Disturbi Del Cromosoma 0 domande Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)
        • Costello Syndrome 0 domande Rare congenital disorder with multiple anomalies including: characteristic dysmorphic craniofacial features, musculoskeletal abnormalities, neurocognitive delay, and high prevalence of cancer. Germline mutations in H-Ras protein can cause Costello syndrome. Costello syndrome shows early phenotypic overlap with other disorders that involve MAP KINASE SIGNALING SYSTEM (e.g., NOONAN SYNDROME and cardiofaciocutaneous syndrome).
        • Fibrosi Cistica 0 domande An autosomal recessive genetic disease of the EXOCRINE GLANDS. It is caused by mutations in the gene encoding the CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR expressed in several organs including the LUNG, the PANCREAS, the BILIARY SYSTEM, and the SWEAT GLANDS. Cystic fibrosis is characterized by epithelial secretory dysfunction associated with ductal obstruction resulting in AIRWAY OBSTRUCTION; chronic RESPIRATORY INFECTIONS; PANCREATIC INSUFFICIENCY; maldigestion; salt depletion; and HEAT PROSTRATION.
        • Donohue Syndrome 0 domande Rare autosomal recessive syndrome of extreme insulin resistance due to mutations in the binding domain of INSULIN RECEPTOR. Clinical features include severe intrauterine and postnatal growth restriction, characteristic dysmorphic FACIES; HIRSUTISM; VIRILIZATION; multiple endocrine abnormalities, and early death.
        • Nanismo 0 domande A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is significantly below the average height.
        • Malattie Dell'Occhio Ereditarie 0 domande Transmission of gene defects or chromosomal aberrations/abnormalities which are expressed in extreme variation in the structure or function of the eye. These may be evident at birth, but may be manifested later with progression of the disorder.
        • Sindrome Di Frasier 0 domande A syndrome characterized by CHRONIC KIDNEY FAILURE and GONADAL DYSGENESIS in phenotypic females with karyotype of 46,XY or female individual with a normal 46,XX karyotype. It is caused by donor splice-site mutations of Wilms tumor suppressor gene (GENES, WILMS TUMOR) on chromosome 11.
        • Malattie Genetiche Associate Al Cromosoma X 0 domande Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. Included here are animal models of human X-linked diseases.
        • Malattie Genetiche Legate Al Cromosoma Y 0 domande Genetic diseases that are linked to mutant ALLELES on the Y CHROMOSOME in humans (Y CHROMOSOME, HUMAN) or the Y chromosome in other species. Included here are animal models of human Y-linked diseases.
        • Sindrome Hajdu-Cheney 0 domande Rare, autosomal dominant syndrome characterized by ACRO-OSTEOLYSIS, generalized OSTEOPOROSIS, and skull deformations.
        • Emoglobinopatie 0 domande A group of inherited disorders characterized by structural alterations within the hemoglobin molecule.
        • Hereditary Autoinflammatory Diseases 0 domande Hereditary inflammation conditions, characterized by recurrent episodes of systemic inflammation. Common symptoms include recurrent fever, rash, arthritis, fatigue, and secondary AMYLOIDOSIS. Hereditary autoinflammatory diseases are associated with mutations in genes involved in regulation of normal inflammatory process and are not caused by AUTOANTIBODIES, or antigen specific T-LYMPHOCYTES.
        • Malattie Degenerative Ereditarie Del Sistema Nervoso 0 domande Inherited disorders characterized by progressive atrophy and dysfunction of anatomically or physiologically related neurologic systems.
        • Ipertiroxinemia Disalbuminica Familiare 0 domande An inherited autosomal dominant trait characterized by abnormally elevated levels of total serum THYROXINE; (T4) in euthyroid patients with abnormal SERUM ALBUMIN that binds T4 with enhanced affinity. The serum levels of free T4, free T3, and TSH are normal. It is one of several T4 abnormalities produced by non-thyroid disorder. This condition is due to mutations of the ALB gene on CHROMOSOME 4.
        • Sindrome Di Kallmann 0 domande A genetically heterogeneous disorder caused by hypothalamic GNRH deficiency and OLFACTORY NERVE defects. It is characterized by congenital HYPOGONADOTROPIC HYPOGONADISM and ANOSMIA, possibly with additional midline defects. It can be transmitted as an X-linked (GENETIC DISEASES, X-LINKED), an autosomal dominant, or an autosomal recessive trait.
        • Sindrome Di Kartagener 0 domande An autosomal recessive disorder characterized by a triad of DEXTROCARDIA; INFERTILITY; and SINUSITIS. The syndrome is caused by mutations of DYNEIN genes encoding motility proteins which are components of sperm tails, and CILIA in the respiratory and the reproductive tracts.
        • Loeys-Dietz Syndrome 0 domande An autosomal dominant aneurysm with multisystem abnormalities caused by increased TGF-BETA signaling due to mutations in type I or II of TGF-BETA RECEPTOR. Additional craniofacial features include CLEFT PALATE; CRANIOSYNOSTOSIS; HYPERTELORISM; or bifid uvula. Phenotypes closely resemble MARFAN SYNDROME; Marfanoid craniosynostosis syndrome (Shprintzen-Goldberg syndrome); and EHLERS-DANLOS SYNDROME.
        • Sindrome Di Marfan 0 domande An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, and the skeleton. Cardiovascular manifestations include MITRAL VALVE PROLAPSE, dilation of the AORTA, and aortic dissection. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome is associated with mutations in the gene encoding fibrillin, a major element of extracellular microfibrils of connective tissue.
        • Errori Congeniti Del Metabolismo 1 quesito Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.
        • Distrofie Muscolari 0 domande A heterogeneous group of inherited MYOPATHIES, characterized by wasting and weakness of the SKELETAL MUSCLE. They are categorized by the sites of MUSCLE WEAKNESS; AGE OF ONSET; and INHERITANCE PATTERNS.
        • Sindromi Miasteniche Congenite 0 domande A heterogeneous group of disorders characterized by a congenital defect in neuromuscular transmission at the NEUROMUSCULAR JUNCTION. This includes presynaptic, synaptic, and postsynaptic disorders (that are not of autoimmune origin). The majority of these diseases are caused by mutations of various subunits of the nicotinic acetylcholine receptor (RECEPTORS, NICOTINIC) on the postsynaptic surface of the junction. (From Arch Neurol 1999 Feb;56(2):163-7)
        • Sindrome Patello-Ungueale 0 domande A syndrome of multiple abnormalities characterized by the absence or hypoplasia of the PATELLA and congenital nail dystrophy. It is a genetically determined autosomal dominant trait.
        • Sindromi Neoplastiche Ereditarie 0 domande The condition of a pattern of malignancies within a family, but not every individual's necessarily having the same neoplasm. Characteristically the tumor tends to occur at an earlier than average age, individuals may have more than one primary tumor, the tumors may be multicentric, usually more than 25 percent of the individuals in direct lineal descent from the proband are affected, and the cancer predisposition in these families behaves as an autosomal dominant trait with about 60 percent penetrance.
        • Osteogenesi Imperfetta 0 domande COLLAGEN DISEASES characterized by brittle, osteoporotic, and easily fractured bones. It may also present with blue sclerae, loose joints, and imperfect dentin formation. Most types are autosomal dominant and are associated with mutations in COLLAGEN TYPE I.
        • Insensibilità Congenita Al Dolore 0 domande A syndrome characterized by indifference to PAIN despite the ability to distinguish noxious from nonnoxious stimuli. Absent corneal reflexes and INTELLECTUAL DISABILITY may be associated. Familial forms with autosomal recessive and autosomal dominant patterns of inheritance have been described. (Adams et al., Principles of Neurology, 6th ed, p1343)
        • Anomalia Di Pelger-Huet 0 domande Autosomal dominant anomaly characterized by abnormal ovoid shape GRANULOCYTE nuclei and their clumping chromatin. Mutations in the LAMIN B receptor gene that results in reduced protein levels are associated with the disorder. Heterozygote individuals are healthy with normal granulocyte function while homozygote individuals occasionally have skeletal anomalies, developmental delay, and seizures.
        • Rene Policistico Infantile (Malattia Autosomica Recessiva) 0 domande A genetic disorder with autosomal recessive inheritance, characterized by multiple CYSTS in both KIDNEYS and associated LIVER lesions. Serious manifestations are usually present at BIRTH with high PERINATAL MORTALITY.
        • Pycnodysostosis 0 domande Rare autosomal recessive syndrome characterized by delayed closing of CRANIAL SUTURES, short stature, ACRO-OSTEOLYSIS of distal phalanges, dental and MAXILLOFACIAL ABNORMALITIES and an increase in bone density that results in frequent BONE FRACTURES. It is associated with BONE RESORPTION defect due to mutations in the lysosomal cysteine protease CATHEPSIN K.
        • Malattie Genetiche Della Pelle 0 domande Diseases of the skin with a genetic component, usually the result of various inborn errors of metabolism.
        • Weill-Marchesani Syndrome 0 domande Rare congenital disorder of connective tissue characterized by brachydactyly, joint stiffness, childhood onset of ocular abnormalities (e.g., microspherophakia, ECTOPIA LENTIS; GLAUCOMA), and proportionate short stature. Cardiovascular anomalies are occasionally seen.
        • Sindrome Di Werner 0 domande An autosomal recessive disorder that causes premature aging in adults, characterized by sclerodermal skin changes, cataracts, subcutaneous calcification, muscular atrophy, a tendency to diabetes mellitus, aged appearance of the face, baldness, and a high incidence of neoplastic disease.
        • Yellow Nail Syndrome 0 domande A rare condition characterized by the presence of yellow nails, LYMPHEDEMA, and/or PLEURAL EFFUSION with respiratory tract involvement. Abnormal lymphatic network may play a role in its etiology. Occasionally inherited, yellow nail syndrome mostly is sporadic without apparent family history.
      • Malattie Del Neonato 1 quesito Diseases of newborn infants present at birth (congenital) or developing within the first month of birth. It does not include hereditary diseases not manifesting at birth or within the first 30 days of life nor does it include inborn errors of metabolism. Both HEREDITARY DISEASES and METABOLISM, INBORN ERRORS are available as general concepts.
    • Malattie Della Pelle E Del Tessuto Connettivo 12 domande A collective term for diseases of the skin and its appendages and of connective tissue.
    • Malattie Del Metabolismo E Della Nutrizione 7 domande A collective term for nutritional disorders resulting from poor absorption or nutritional imbalance, and metabolic disorders resulting from defects in biosynthesis (ANABOLISM) or breakdown (CATABOLISM) of endogenous substances.
    • Malattie Endocrine 6 domande Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES.
    • Malattie Del Sistema Immunitario 2 domande Disorders caused by abnormal or absent immunologic mechanisms, whether humoral, cell-mediated, or both.
    • Disturbi Di Origine Ambientale 1 quesito Disorders caused by external forces rather than by physiologic dysfunction or by pathogens.
    • Malattie Degli Animali 0 domande
    • Segni E Sintomi Di Condizioni Patologiche 19 domande Abnormal anatomical or physiological conditions and objective or subjective manifestations of disease, not classified as disease or syndrome.
    • Malattie Professionali 0 domande Diseases caused by factors involved in one's employment.
    • Disturbi Da Uso Di Sostanze 1 quesito Disorders related to substance abuse, the side effects of a medication, or toxin exposure.
    • Ferite E Lesioni 13 domande Damage inflicted on the body as the direct or indirect result of an external force, with or without disruption of structural continuity.
  • Sostanze chimiche e Farmaci 207 domande Any substance used in or resulting from a reaction involving changes to atoms or molecules, especially one derived artificially for practical use and any synthetic, semisynthetic, or natural chemical substance used in the treatment, prevention, or diagnosis of disease, or for other medical reasons.
  • Tecniche ed apparecchiature analitiche, diagnostiche e terapeutiche 109 domande
  • Psichiatria e Psicologia 15 domande The branches of medicine concerned with the diagnosis and treatment of mental illness and the scientific study of all forms of human and animal behaviour, sometimes concerned with the methods through which behaviour can be modified.
  • Scienze biologiche 31 domande
  • Scienze naturali 17 domande
  • Antropologia, Formazione, Sociologia e fenomeni sociali 3 domande
  • Tecnologia, Industria, Agricoltura 7 domande
  • Discipline umanistiche 0 domande The study of literature, philosophy, and the arts.
  • Scienza dell'informazione 0 domande The field of knowledge, theory, and technology dealing with the collection of facts and figures, and the processes and methods involved in their manipulation, storage, dissemination, publication, and retrieval. It includes the fields of COMMUNICATION; PUBLISHING; LIBRARY SCIENCE; and informatics.
  • Gruppi di persone 9 domande
  • Assistenza sanitaria 45 domande
  • Caratteristiche della Pubblicazione 4 domande
  • Luoghi geografici 10 domande The study of the natural features of the earth's surface, including topography, climate, soil, vegetation, etc, and man's response to them.
crea domanda:
Benvenuti a lookformedical.com, dove si possono porre domande e ricevere risposte da altri membri della comunità.

Argomenti

1.0k domande

98 risposte

4 commenti

622 utenti

Limitazione di responsabilità: Non valuta né garantisce l'accuratezza dei contenuti di questo sito web.
Snow Theme by Q2A Market
Powered by Question2Answer
...