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Acrocallosal syndrome (also known as ACLS) is a rare autosomal recessive syndrome characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and mental retardation, and other symptoms. The syndrome was first described by Albert Schinzel in 1979.
It is associated with "GLI3".
Acrocallosal syndrome (ACLS, ACS, Schinzel-Type, Hallux-duplication) is a rare, heterogeneous [3] autosomal recessive disorder first discovered by Albert Schinzel (1979) in a 3-year-old boy . To inherit ACLS, one gene copy from each parent must contain a mutation somewhere in the KIF7 gene and be passed on to the child [3]. Characteristics of this syndrome include absence or poor development of the area connecting the left and right parts of the brain, an abnormally large head, increased distance between facial features (eyes), poor motor skills, mental retardation [2], extra fingers and toes, many facial deformities [3], and cleft palate [5]. This is considered a rare disorder and is placed on the NIH Office of Rare Diseases (fewer than 200,000 cases) rare disease list [8]. Lifespan may range from stillbirth to normal expectancy depending on pregnancy complications and severity of the disorder [2,3,5]. In mild cases, the subjects have been shown to live relatively normal lives, but with developmental delays [2].
Cardiac resuscitation guidelines (ACLS/BCLS) advise that Cardiopulmonary resuscitation should be initiated promptly to maintain cardiac output until the PEA can be corrected. The approach in treatment of PEA is to treat the underlying cause, if known (e.g. relieving a tension pneumothorax). Where an underlying cause for PEA cannot be determined and/or reversed, the treatment of pulseless electrical activity is similar to that for asystole. There is no evidence that external cardiac compression can increase cardiac output in any of the many scenarios of PEA, such as hemorrhage, in which impairment of cardiac filling is the underlying mechanism producing loss of a detectable pulse.
An intravenous or intraosseous line should be started to provide medications through. The mainstay of drug therapy for PEA is epinephrine (adrenaline) 1 mg every 3–5 minutes. Although previously the use of atropine was recommended in the treatment of PEA/asystole, this recommendation was withdrawn in 2010 by the American Heart Association due to lack of evidence for therapeutic benefit. Epinephrine too has a limited evidence base, and it is recommended on the basis of its mechanism of action.
Sodium bicarbonate 1meq per kilogram may be considered in this rhythm as well, although there is little evidence to support this practice. Its routine use is not recommended for patients in this context, except in special situations (e.g. preexisting metabolic acidosis, hyperkalemia, tricyclic antidepressant overdose).
All of these drugs should be administered along with appropriate CPR techniques. Defibrillators cannot be used to correct this rhythm, as the problem lies in the response of the myocardial tissue to electrical impulses.
Defibrillation is the definitive treatment of ventricular fibrillation, whereby an electrical current is applied to the ventricular mass either directly or externally through pads or paddles, with the aim of depolarising enough of the myocardium for co-ordinated contractions to occur again. The use of this is often dictated around the world by Advanced Cardiac Life Support or Advanced Life Support algorithms, which is taught to medical practitioners including doctors, nurses and paramedics and also advocates the use of drugs, predominantly epinephrine, after every second unsuccessful attempt at defibrillation, as well as cardiopulmonary resuscitation (CPR) in between defibrillation attempts. Though ALS/ACLS algorithms encourage the use of drugs, they state first and foremost that defibrillation should not be delayed for any other intervention and that adequate cardiopulmonary resuscitation be delivered with minimal interruption.
The precordial thump is a manoeuver promoted as a mechanical alternative to defibrillation. Some advanced life support algorithms advocate its use once and only in the case of witnessed and monitored V-fib arrests as the likelihood of it successfully cardioverting a patient are small and this diminishes quickly in the first minute of onset.
Patients who survive a 'V-fib arrest' and who make a good recovery from this are often considered for implantation of an implantable cardioverter-defibrillator, which can quickly deliver this same life-saving defibrillation should another episode of ventricular fibrillation occur outside a hospital environment.
Medications, while included in guidelines, have not been shown to improve survival to hospital discharge following out-of-hospital cardiac arrest. This includes the use of epinephrine, atropine, lidocaine, and amiodarone. Epinephrine is generally recommended every five minutes. Vasopressin overall does not improve or worsen outcomes compared to epinephrine.
Epinephrine does appear to improve short-term outcomes such as return of spontaneous circulation. Some of the lack of long-term benefit may be related to delays in epinephrine use. While evidence does not support its use in children guidelines state its use is reasonable. Lidocaine and amiodarone are also deemed reasonable in children with cardiac arrest who have a shockable rhythm. The general use of sodium bicarbonate or calcium is not recommended.
The 2010 guidelines from the American Heart Association no longer contain the recommendation for using atropine in pulseless electrical activity and asystole due to the lack of evidence for its use. Neither lidocaine nor amiodarone, in those who continue in ventricular tachycardia or ventricular fibrillation despite defibrillation, improves survival to hospital discharge but both equally improve survival to hospital admission.
Thrombolytics when used generally may cause harm but may be of benefit in those with a confirmed pulmonary embolism as the cause of arrest. Evidence for use of naloxone in those with cardiac arrest due to opioids is unclear but it may still be used. In those with cardiac arrest due to local anesthetic lipid emulsion may be used.
Warm sweetened liquids can be given provided the person is alert and can swallow. Many recommend that alcohol and drinks with lots of caffeine be avoided. As most people are moderately dehydrated due to cold-induced diuresis, warmed intravenous fluids to a temperature of are often recommended.
The term for non-surgical treatment for ACL rupture is "conservative management", and it often includes physical therapy and using a knee brace. Instability associated with ACL deficiency increases the risk of other knee injuries such as a torn meniscus, so sports with cutting and twisting motions are problematic and surgery is often recommended in those circumstances.
Patients who have suffered an ACL injury should be evaluated for other injuries that often occur in combination with an ACL tear and include cartilage/meniscus injuries, bone bruises, PCL tears, posterolateral injuries and collateral ligament injuries. When a combination injury occurs, surgical treatment is usually advised.
Cardiopulmonary resuscitation (CPR) is a key part of the management of cardiac arrest. It is recommended that it be started as soon as possible and interrupted as little as possible. The component of CPR that seems to make the greatest difference in most cases is the chest compressions. Correctly performed bystander CPR has been shown to increase survival; however, it is performed in less than 30% of out of hospital arrests as of 2007. If high-quality CPR has not resulted in return of spontaneous circulation and the person's heart rhythm is in asystole, discontinuing CPR and pronouncing the person's death is reasonable after 20 minutes. Exceptions to this include those with hypothermia or who have drowned. Longer durations of CPR may be reasonable in those who have cardiac arrest while in hospital. Bystander CPR, by the lay public, before the arrival of EMS also improves outcomes.
Either a bag valve mask or an advanced airway may be used to help with breathing. High levels of oxygen are generally given during CPR. Tracheal intubation has not been found to improve survival rates in cardiac arrest and in the prehospital environment may worsen it. When done by EMS 30 compressions followed by two breaths appear better than continuous chest compressions and breaths being given while compressions are ongoing.
For bystanders, CPR which involves only chest compressions results in better outcomes as compared to standard CPR for those who have gone into cardiac arrest due to heart issues. Mechanical chest compressions (as performed by a machine) are no better than chest compressions performed by hand. It is unclear if a few minutes of CPR before defibrillation results in different outcomes than immediate defibrillation. If cardiac arrest occurs after 20 weeks of pregnancy someone should pull or push the uterus to the left during CPR. If a pulse has not returned by four minutes emergency Cesarean section is recommended.
Aggressiveness of treatment is matched to the degree of hypothermia. Treatment ranges from noninvasive, passive external warming to active external rewarming, to active core rewarming. In severe cases resuscitation begins with simultaneous removal from the cold environment and management of the airway, breathing, and circulation. Rapid rewarming is then commenced. Moving the person as little and as gently as possible is recommended as aggressive handling may increase risks of a dysrhythmia.
Hypoglycemia is a frequent complication and needs to be tested for and treated. Intravenous thiamine and glucose is often recommended, as many causes of hypothermia are complicated by Wernicke's encephalopathy.
The UK National Health Service advises the lay public against putting a person in a hot bath, massaging their arms and legs, using a heating pad, or giving them alcohol. These measures can cause blood to be directed to the skin, causing a fall in blood pressure to vital organs, potentially resulting in death.
A torn ACL is less likely to restrict the movement of the knee. Not repairing tears to the ACL can sometimes cause damage to the cartilage inside the knee because with the torn ACL, the tibia and femur bone are more likely to rub against each other. Immediately after a tear of the ACL, the person should rest the knee, ice it every 15 to 20 minutes, provide compression on the knee, and then elevate it above the heart; this process helps decrease the swelling and reduce the pain. The form of treatment is determined based on the severity of the tear on the ligament. Small tears in the ACL may require only several months of rehab in order to strengthen the surrounding muscles, the hamstring and the quadriceps, so that these muscles can compensate for the torn ligament. Falls associated with knee instability may require the use of a specific brace to stabilize the knee. Women are more likely to experience falls associated with the knee giving way. Sudden falls can be associated with further complications such as fractures and head injury.
Myofibre break-up, abbreviated MFB, is associated with ventricular fibrillation leading to death. Histomorphologically, MFB is characterized by fractures of the cardiac myofibres perpendicular to their long axis, with squaring of the myofibre nuclei.
Pulseless electrical activity (PEA), also known as electromechanical dissociation, refers to cardiac arrest in which the electrocardiogram shows a heart rhythm that should produce a pulse, but does not. Pulseless electrical activity is found initially in about 55% of people in cardiac arrest.
Under normal circumstances, electrical activation of muscle cells precedes mechanical contraction of the heart (known as "electromechanical coupling"). In PEA, there is electrical activity, but the heart either does not contract or there are other reasons this results in an insufficient cardiac output to generate a pulse and supply blood to the organs. While PEA is classified as a form of cardiac arrest, significant cardiac output may still be present which may be determined and best visualized by bedside ultrasound.
Cardiopulmonary resuscitation (CPR) is the first treatment for PEA, while potential underlying causes are identified and treated. The medication epinephrine may be administered. Survival is about 20%.