Introduction: Von Hippel-Lindau disease (VHL) is autosomal dominant tumor syndrome that debuts mostly in young adults , patients with this disease are linked to the triggering of various types of benign and malignant neoplasms in multiple locations, systems and organs, in particular affecting more the nervous system and other internal organs. Approximately this tumor syndrome shows an incidence rate of 1 in 36,000 live births with a penetrance greater than 90%. The molecular basis of VHL disease is the impairment of VHL protein function and the consequent clustering of hypoxia-inducible factors with subsequent consequences on cell differentiation and metabolism. Objective: to present current information related to Von Hippel-Lindau disease, description, genetics, molecular basis, classification and manifestations of the disease. Methodology: a total of 33 articles were analyzed in this review, including review and original articles, as well as clinical cases, of which 26 bibliographies were used because the other articles were not relevant to this study. The sources of information were PubMed, Google Scholar and Cochrane; the terms used to search for information in Spanish, Portuguese and English were: Von Hippel-Lindau, VHL, tumor suppressor gene, pheochromocytoma, hemangioblastomas. Results: VHL has an incidence of approximately 1 in 36,000 live births, with a penetrance of over 90%. These present tumors are initiated by inactivation of biallelic VHL and are related to pathologic activation of hypoxic gene response pathways. Conclusions: Von Hippel-Lindau disease is an autosomal dominant disorder that is generated by mutations in the VHL tumor suppressor gene. Within the field intrafamilial variation may evidence correctly shaped genotype-phenotype connections for renal cancer and pheochromocytoma risks. Visceral cysts (renal, pancreatic and epididymal) are frequent, however organ function involvement is rare. They usually occur with hemangioblastomas of the central nervous system and retina, as well as renal cancers. Unusually it includes non-functioning pancreatic endocrine cancers, adrenal and extra-adrenal pheochromocytomas, endolymphatic sac tumors, as well as head and neck paragangliomas. KEYWORDS: Von Hippel-Lindau, VHL, gene, suppressor, tumor, pheochromocytoma, hemangioblastomas

Introduction: Mirizzis syndrome, named after the Argentine surgeon Pablo Luis Mirizzi who first reported the syndrome in 1948, when he showed a history of a patient who presented a calculus of considerable size impacted in the infundibulum of the gallbladder, which generated jaundice due to extrinsic compression of the common bile duct. We speak of Mirizzi syndrome when there is an impaction of a calculus in the infundibulum of the gallbladder or the cystic duct that crushes the common hepatic duct, weakening it and forming a cholecystocholedochal fistula. Objective: to detail the current information related to Mirizzi syndrome, description, etiology, epidemiology, pathophysiology, classification, histopathology, presentation, diagnosis, treatment, prognosis and complications. Methodology: a total of 45 articles were analyzed in this review, including review and original articles, as well as clinical cases, of which 33 bibliographies were used because the other articles were not relevant to this study. The sources of information were PubMed, Google Scholar and Cochrane; the terms used to search for information in Spanish, Portuguese and English were: Mirizzi Syndrome, obstruction, common bile duct, gallstone, hepatic duct. Results: Mirizzi syndrome is relatively infrequent, occurring in only 0.1% of patients with gallstones with findings in 0.7% to 25% of patients who have undergone cholecystectomy. Between 5% to 28% of individuals with Mirizzi syndrome had gallbladder cancer following cholecystectomy. The modification of the anatomy and the cholecystocoledocian fistula increase the risk of damage to the biliary tract in the surgical act of cholecystectomy. Regarding classification type I was present in 40% of cases, type II, type III and type IV in 20% each. Conclusions: Mirizzi syndrome, also called extrinsic biliary compression syndrome, is an infrequent complication of chronic cholecystitis and cholelithiasis secondary to obliteration of the cystic duct or gallbladder infundibulum (Hartmanns pouch) generated due to the impact of one or more calculi. The impacted stone plus the inflammatory response produces the obstruction of the external biliary tract, with which the mucosa will erode and form a cholecystohepatic or cholecystocoledocian fistula. The risk of presenting gallbladder cancer increases with Mirizzi syndrome. The most common presentation is obstructive jaundice and right upper quadrant pain accompanied by epigastric pain, dark urine, nausea, tachycardia, vomiting, anorexia, fever and chills. The beginning of the diagnosis should be made with the usual tests for cholecystitis.Right upper quadrant abdominal ultrasound is currently the first-line study for the diagnosis of gallstones and acute cholecystitis. If a gallstone in the common bile duct is suspected by ultrasound, magnetic resonance cholangiopancreatography should be performed. This is followed by endoscopic retrograde cholangiopancreatography (ERCP) performed by a trained gastroenterologist. Conventionally the treatment of Mirizzi syndrome is surgical. Cholecystectomy is the first-line treatment; in case of fistula, open cholecystectomy with bilioenteric anastomosis, possibly with a Roux-en-Y is effective. In individuals without fistula, the prognosis is usually positive. In elderly patients with multiple comorbidities and high risk of surgical complications, non-surgical methods should be considered to minimize the morbidity associated with surgery. KEY WORDS: Mirizzi, syndrome, obstruction, duct, calculus, common bile duct, hepatic.

Introduction: In recent years the understanding and comprehension of the elbow has improved, clarifying some aspects of the complex diarthrodial joint. The relevance of the radial head in the biomechanics of the elbow is recognized which helps to improve the management and treatment of fractures at this site. Elbow trauma is the most common origin of proximal radius fractures, this trauma can be direct or indirect and can cause an isolated fracture, a fracture associated with other fractures and ligament injuries. Objective: to detail the current information related to radial head fractures, epidemiology, anatomy, presentation, clinical evaluation, imaging evaluation, classification, treatment and complications. Methodology: a total of 42 articles were analyzed in this review, including review and original articles, as well as clinical cases, of which 31 bibliographies were used because the other articles were not relevant to this study. The sources of information were PubMed, Google Scholar and Cochrane; the terms used to search for information in Spanish, Portuguese and English were: radial head fractures, radial head prosthesis, radial head arthroplasty. Results: Radial head fractures have an incidence of 2.5 per 10,000 per year, which represents 1.7 to 5.4% of all fractures. Most radial head injuries are the result of a fall on the hand in extension. Usually the affected individuals show limitation of mobility of the forearm and elbow in addition to pain or discomfort when making passive rotational movement of the forearm; they also usually present pain on palpation over the radial head and joint effusion in the elbow. Sometimes there is a fracture-dislocation of the radial head related to a rupture of the interosseous membrane with lesion of the distal radioulnar joint called Essex-Lopresti lesion. Conclusions: The radial head together with the interosseous membrane of the forearm provide longitudinal stability; when the interosseous membrane is damaged, a proximal migration of the radial head may occur after removal of the radial head. When presenting clinical suspicion of elbow fracture, standard anteroposterior and lateral projections of the elbow should be requested, as well as oblique projections such as the Greenspan projection. The Manson, Mason-Johnston or Mason classification modified by Hotchkiss is usually used for classification. Among the indications for conservative treatment are solitary, undisplaced or minimally displaced fractures that do not present mechanical blockages in the range of motion or less than 3 mm of displacement. Studies report the effectiveness of open reduction and internal fixation of simple Mason type II fractures; Manson type III fractures are controversial. Complications usually arise from contracture subsequent to prolonged immobilization or secondary to persistent pain, edema and swelling; which may be due to undiagnosed osteochondral injury of the capitellum. KEY WORDS: fracture, radius, head, prosthesis, elbow.

Introduction: Spinal muscular atrophy (SMA) is a complex neuromuscular disorder, it is the most usual autosomal recessively inherited lethal neuromuscular disease in pediatrics, it presents a defective alteration in the survival motor neuron 1 (SMN1) gene. Spinal muscular atrophy clinically shows progressive weakness of skeletal and respiratory muscles. In recent years, drugs with encouraging results from phase II and III clinical trials have been presented. Objective: to detail current information related to spinal muscular atrophy, clinical features, classification, natural history, genetics, diagnosis, complications and treatment of the disease. Methodology: a total of 40 articles were analyzed in this review, including review and original articles, as well as clinical cases, of which 31 bibliographies were used because the other articles were not relevant to this study. The sources of information were PubMed, Google Scholar and Cochrane; the terms used to search for information in Spanish, Portuguese and English were: spinal muscular atrophy, Spinal Muscular Atrophy, spinal muscular atrophy and spinal muscular atrophy. Results: About 95 % of the occurrences of spinal muscular atrophy are generated by homozygous deletions. Individuals with 5q mutation make up 95% of cases of spinal muscular atrophy and the remaining 5% are generated by mutations in 5q1-5. Targeted treatments may prevent or delay the progression of some symptoms of spinal muscular atrophy. Conclusions: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by muscle atrophy and weakness resulting from irreversible loss and progressive degeneration of the brainstem nuclei and anterior horn cells in the spinal cord (lower motor neurons). Clinically it presents with symmetrical proximal limb weakness that also impacts the axial muscles, intercostal and bulbar musculature and is progressive, and the classification protocol is important in genetics, as well as providing prognostic and clinical information. The natural history of the disease is variable and complicated. It is made by demonstrating a history of proximal muscle weakness, motor difficulties or regression, diminished or absent deep tendon reflexes. Among the most frequent complications in unsupported individuals are those previously mentioned such as poor weight gain with growth retardation, scoliosis, restrictive lung disease, joint contractures and sleep difficulties. In terms of treatment, several different compounds have been investigated in recent years, focused on increasing muscle strength and function. Proactive supportive treatment involving a multidisciplinary team is paramount to decrease the severity of symptoms. KEY WORDS: muscle atrophy, spine, spinal, spinal cord, motor neuron.

Introduction: Open fractures of the pelvis represent one of the most fatal injuries within musculoskeletal trauma so they must be treated correctly, adjusting to a multidisciplinary approach to achieve the well-being of the affected person, in addition to restoring homeostasis and normal pathophysiology related to the mechanical stability of the pelvic ring. Objective: to detail current information related to pelvic fractures, epidemiology, anatomy, mechanism of injury, classification, imaging presentation, clinical presentation, management and complications. Methodology: a total of 27 articles were analyzed in this review, including review and original articles, as well as clinical cases, of which 20 bibliographies were used because the other articles were not relevant for this study. The sources of information were PubMed, Google Scholar and Cochrane; the terms used to search for information in Spanish, Portuguese and English were: fracturas de pelvis, fraturas do anel pelvico, anatomy of the pelvis, fractures of the pelvis. Results: Most cases of pelvic fractures occur in young people due to high-energy mechanisms, although injuries can also be generated by low-energy mechanisms and can cause fractures of individual bones. Mortality is higher in individuals with hemodynamic instability. The standard imaging examinations in trauma are anteroposterior projections of the thorax, lateral cervical spine and anteroposterior projections of the pelvis; special projections of the pelvis include the oblique alar and obturator projections. The severity of pelvic fractures is closely related to the associated injuries. Conclusions: Knowledge of anatomy is a fundamental piece in the treatment of pelvic fractures and associated injuries. There are several systems for classifying pelvic fractures, according to anatomical patterns, mechanisms of injury, resulting instability requiring surgery. The most frequently used is that of Young and Burgess. For evaluation, one should start with the ABCDE, airway, breathing, circulation, disability, and exposure and integrate a complete traumatologic evaluation. To determine whether there is pelvic instability, the anteroposterior and lateral compression test is performed for one occasion, generating internal and external rotation of the pelvis. The spine and extremities should be well assessed with an adequate neurovascular examination and a thorough neurological examination. In pelvic fractures, management and treatment begins with ABCDE. Followed by stabilization of the patient, a multidisciplinary approach is required. External or internal fixation can be performed to stabilize the pelvis, its use and recommendation usually vary according to the characteristics of each fracture, the associated injuries and the instability of the pelvic ring. Pelvic trauma with involvement of the acetabulum and injuries to the genitourinary system should not be underestimated. Complications include infection, thromboembolism, malunion and pseudarthrosis. KEY WORDS: fracture, pelvis, pelvic ring, pelvic trauma.