Gene therapy is divided into somatic and germ line therapy. The latter involves reproductive cells or their stem cells, and its results are heritable. The effects of somatic gene therapy are generally restricted to a sin...Gene therapy is divided into somatic and germ line therapy. The latter involves reproductive cells or their stem cells, and its results are heritable. The effects of somatic gene therapy are generally restricted to a single tissue of the patient in question. Until now, all gene therapies in the world have belonged to the regime of somatic therapy, germ line therapy having been a theoretical possibility only. Very recently, however, a method has been developed which is applicable to germ line therapy as well. In addition to technical challenges, severe ethical problems are associated with germ line therapy, demanding opinion statement.
Sipponen T, Isomäki P, Leinonen S
… +2 more, Mälkönen T, Jokiranta S
Duodecim
· 2016 · PMID 27017791
The use of biological drugs consisting of large molecules has in recent years expanded to new indications and new specialties. These drugs are most commonly proteins possessing the structure of an antibody or a receptor,...The use of biological drugs consisting of large molecules has in recent years expanded to new indications and new specialties. These drugs are most commonly proteins possessing the structure of an antibody or a receptor, and treatment with them is significantly more expensive than that carried out with conventional small molecule drugs. Determination of drug levels and emerging antibodies form the basis of individualization. They will enable better treatment results with simultaneous avoidance of unnecessary medications, excessive doses--and extra costs. We demonstrate the individualization of TNF-α blocker therapy through patient cases in various situations.
Several new biological drugs, of which TNFα blockers are being used most extensively, have in recent years been adopted for the treatment of pediatric inflammatory diseases such as juvenile arthritis and associated chron...Several new biological drugs, of which TNFα blockers are being used most extensively, have in recent years been adopted for the treatment of pediatric inflammatory diseases such as juvenile arthritis and associated chronic iritis, and inflammatory bowel diseases. In special situations the children will be prescribed off-label also other drugs affecting cytokines, e.g. IL-1 and IL-6 blockers. Tailoring of the treatment is possible today with the help of drug level measurements and anti-drug antibody determinations. Severe safety hazards associated with biological drug therapy in children are very rare.
Anttila VJ, Haapamäki J, Peltomaa R
… +2 more, Tiippana-Kinnunen T, Luosujärvi R
Duodecim
· 2016 · PMID 27017789
The use of biological drugs in the treatment of inflammatory rheumatic diseases, bowel diseases, and psoriasis has increased. Patients receiving a biological drug are invariably under the supervision of a specialized phy...The use of biological drugs in the treatment of inflammatory rheumatic diseases, bowel diseases, and psoriasis has increased. Patients receiving a biological drug are invariably under the supervision of a specialized physician, but many are also attending basic healthcare clinics. Every physician taking care of a patient receiving a biological drug should be aware of the principles of interruption. In the present article we will focus on common situations, where an interruption of a biological drug must be considered in the treatment of these inflammatory diseases.
Biological drugs are the most rapidly growing group of medicinal agents. In addition to hormone and vaccine products, the significance of drugs produced using genetic engineering has increased in numerous indications, es...Biological drugs are the most rapidly growing group of medicinal agents. In addition to hormone and vaccine products, the significance of drugs produced using genetic engineering has increased in numerous indications, especially in oncology. Furthermore, they have significantly contributed to the treatment of inflammatory musculoskeletal as well as cutaneous and intestinal diseases. Their use is limited by parenteral administration, immunogenicity, uncertainty about possible severe adverse effects and especially the high price of the drugs. The cessation of patent protection of the original brand pharmaceuticals, and marketing of biosimilar drugs are expected to lower the prices of the original biological, as well.
Rheumatoid arthritis, inflammatory bowel diseases and psoriasis are examples of immune-mediated inflammatory diseases. They involve activation of a partly similar cytokine network that has an essential role in the diseas...Rheumatoid arthritis, inflammatory bowel diseases and psoriasis are examples of immune-mediated inflammatory diseases. They involve activation of a partly similar cytokine network that has an essential role in the disease pathogenesis. Biological drugs have been developed for the inhibition of single cytokines, and good therapeutic responses have been achieved by using them. For instance, TNF blockers are used in the treatment of several inflammatory diseases. The use of the blockers of certain other cytokines is more limited. Other important target molecules include certain interleukins. New bispecific antibodies enabling inhibition of the action of two distinct cytokines are currently undergoing clinical studies.
Biological drugs differ from conventional synthetic drugs in their method of production, size and structure. Some biologicals are small peptides, but the number of large molecule biologicals having a protein structure ha...Biological drugs differ from conventional synthetic drugs in their method of production, size and structure. Some biologicals are small peptides, but the number of large molecule biologicals having a protein structure has increased rapidly. The structural spectrum of proteins is extensive, whereby the WHO committee issuing international names for medicinal agents has decided on a uniform nomenclature that has already been updated. Knowing this nomenclature will make it easier for the physicians to deduce the properties and applicability of the drugs on the basis of the mere drug name. It will also help remembering the complex names.
Iphosphamide is a chemotherapeutic that is used in the treatment of many cancer types. It causes encephalopathy in as many as 27% of patients. Drug interactions increase the probability of encephalopathy. Aprepitant, whi...Iphosphamide is a chemotherapeutic that is used in the treatment of many cancer types. It causes encephalopathy in as many as 27% of patients. Drug interactions increase the probability of encephalopathy. Aprepitant, which is used in the prevention of chemotherapy-induced nausea and vomitus, is one of the problematic drugs. The treatment of encephalopathy includes discontinuation of iphosphamide, the use of methylene blue and correction of electrolytes. If iphosphamide is still useful, methylene blue can be used prophylactically to prevent encephalopathy.
Methods of brain stimulation based on a weak electric current are non-invasive neuromodulation techniques. They include transcranial direct current, alternating current and random noise stimulation. These methods modify...Methods of brain stimulation based on a weak electric current are non-invasive neuromodulation techniques. They include transcranial direct current, alternating current and random noise stimulation. These methods modify the membrane potential of neurons without triggering the action potential, and have been successfully utilized to influence cognition and regulation of emotions in healthy experimental subjects. In clinical studies, indications of the efficacy of these techniques have been obtained in the treatment of depression, schizophrenia, memory disorders and pain as well as in stroke rehabilitation. It is hoped that these techniques will become established as part of the care and rehabilitation of psychiatric and neurologic patients in the future.
Partinen M, Huutoniemi A, Kajaste S
… +10 more, Lagerstedt R, Markkula J, Mäkinen E, Paakkari I, Partonen T, Polo P, Saarenpää-Heikkilä O, Seppälä M, Kukkonen-Harjula K, Tuunainen A
Duodecim
· 2016 · PMID 26951032
Insomnia symptoms must be differentiated from insomnia disorder. The correct aiagnosis or insomnia aisoraer is important, as insomnia may also be a symptom of many other diseases. Cognitive behavioral methods are recomme...Insomnia symptoms must be differentiated from insomnia disorder. The correct aiagnosis or insomnia aisoraer is important, as insomnia may also be a symptom of many other diseases. Cognitive behavioral methods are recommended as first-line treatment options. Treatment of acute insomnia with hypnotics should not exceed two weeks. In elderly persons adverse effects of hypnotics may exceed their beneficial effects in long-term use. Antidepressive medications acting on the histamine-1 system may be used in very small doses. The new guideline includes e.g. insomnia in pregnant and menopausal women and in cancer patients, and driving issues.
Medical students feel that their ability to carry out procedures is lower than desired. Whereas supervised learning is easily arranged at scheduled appointment clinics, experience in emergency procedures often accumulate...Medical students feel that their ability to carry out procedures is lower than desired. Whereas supervised learning is easily arranged at scheduled appointment clinics, experience in emergency procedures often accumulates only during practical training. A large part of the students had turned to the internet in search for advice or repetition about typical emergency procedures. With the growing yearly intake by the faculties it will be difficult to increase contact teaching at the clinical stage, but it is possible to improve its quality through flipped classroom. Procedural videos found in the internet are well suited for stimuli prior to contact teaching.
Sätilä H, Kuusela AL, Pietilä K
… +2 more, Niinikoski H, Keskinen P
Duodecim
· 2016 · PMID 26951030
Congenital disorders of glycosylation (CDG) are a relatively recently identified group of multisystem disorders caused by defective glycosylation of N-glycosylated proteins. They mainly involve the central and peripheral...Congenital disorders of glycosylation (CDG) are a relatively recently identified group of multisystem disorders caused by defective glycosylation of N-glycosylated proteins. They mainly involve the central and peripheral nervous system, but other organ systems are involved as well. Type CDG Ia accounts for over 80% of cases, characterized by decreased activity of the enzyme phosphomannomutase caused by mutations in chromosome 16 PMM2 gene. Treatment of CDG Ia remains symptomatic.
Hyperhidrosis can be localized or generalized and may cause the patient significant discomfort. Localized hyperhidrosis is usually primary, often begins in adolescence and is partly based on genetic dispositions. As a ru...Hyperhidrosis can be localized or generalized and may cause the patient significant discomfort. Localized hyperhidrosis is usually primary, often begins in adolescence and is partly based on genetic dispositions. As a rule it does not necessitate investigations for secondary causes (e.g. endocrine or neurologic conditions). Generalized hyperhidrosis is commonly associated with environmental or lifestyle factors, and sometimes physiological factors. In new-onset generalized sweating of unclear origin, it may be appropriate to consider secondary causes (underlying diseases, medications, infections). Relatively effective symptomatic treatments are available in localized hyperhidrosis. The treatment of generalized hyperhidrosis is almost always directed against the underlying factors.
Simoila L, Isometsä E, Halmesmäki E
… +5 more, Sailas E, Suvisaari J, Gissler M, Maim H, Lindberg N
Duodecim
· 2016 · PMID 26951028
Aspects to be taken into consideration in the total care of women of reproductive age and affected with schizophrenia include possible contraception, pharmacological therapy during pregnancy and need for support in paren...Aspects to be taken into consideration in the total care of women of reproductive age and affected with schizophrenia include possible contraception, pharmacological therapy during pregnancy and need for support in parenthood. Compared with other pregnant women, those affected with schizophrenia are older, are more frequently smokers during pregnancy and more often neglect health monitoring during pregnancy. Schizophrenia predisposes for preterm delivery, miscarriage and lower Apgar score of the infant. In regard to parenthood, the effects of the illness itself or the prescribed medication on the interactive mother-child relationship may emerge as problematic issues.
Seppälä T, Pylvänäinen K, Renkonen-Sinisalo L
… +4 more, Böhm J, Kuopio T, Järvinen HJ, Mecklin JP
Duodecim
· 2016 · PMID 26951027
Lynch syndrome (LS) refers to an autosomal dominant genetic predisposition to develop colon cancer or cancers or the uterine corpus, stomach, urinary tract, ovaries, small intestine, mammary gland or bile ducts at a youn...Lynch syndrome (LS) refers to an autosomal dominant genetic predisposition to develop colon cancer or cancers or the uterine corpus, stomach, urinary tract, ovaries, small intestine, mammary gland or bile ducts at a young age. The predisposition to cancer is caused by a germline mutation in one of the genes of the mismatch repair (MMR) system. International recommendations suggest immunohistochemical analysis of tumor tissue from at least those having developed colorectal cancer or endometrial cancer at an age of less than 70 years. This would allow the selection of patients to be referred for gene testing as well as identification of mutation carriers, for whom a regular colonoscopy follow-up is arranged at an interval of 2 to 3 years.
Anti-Müllerian hormone (AMH), also known as Müllerian inhibitory substance, is a useful marker of ovarian function. Granulosa cells of growing follicles secrete AMH, and its serum levels reflect the remaining follicular...Anti-Müllerian hormone (AMH), also known as Müllerian inhibitory substance, is a useful marker of ovarian function. Granulosa cells of growing follicles secrete AMH, and its serum levels reflect the remaining follicular pool and thus the remaining length of a woman's reproductive lifespan. Serum AMH measurement can be used as a marker of ovarian dysfunction such as primary ovarian insufficiency, polycystic ovarian syndrome and granulosa cell tumors. Furthermore, it helps to estimate ovarian damage due to chemotherapy or surgery and can be used as a tool in infertility treatment. The use of AMH in clinical practice will likely become more common in the future as the new automatic assay methods become available.
Physical symptoms often occur in the absence of physical illness. This is termed somatization when the symptoms are caused by psychic factors. When abundant symptoms affect the functional capacity and cause subjective ha...Physical symptoms often occur in the absence of physical illness. This is termed somatization when the symptoms are caused by psychic factors. When abundant symptoms affect the functional capacity and cause subjective harm and seeking healthcare services, a psychic disorder may be in question. Somatization may be associated with numerous psychic disorders. It may, however, also be a question of a somatoform disorder having a physical symptom picture. Somatization disorder is one of the somatoform disorders. Recognition of the disorder is often the problem in its treatment. Establishing a long-term treatment relationship actually forms the basis for therapy.
HämäläInen M, Katri L, Laukkala T
… +5 more, Nokelainen P, Raisio M, Rantala H, Aanttila P, Sätilä H
Duodecim
· 2016 · PMID 26939493
The majority of children with recurrent headaches can be effectively treated in the primary health care. Paracetamol and ibuprofen are the recommended first-line pain medications. Limited evidence is available on the eff...The majority of children with recurrent headaches can be effectively treated in the primary health care. Paracetamol and ibuprofen are the recommended first-line pain medications. Limited evidence is available on the effectiveness of triptans in children and adolescents. However, nasal sumatriptan and possibly oral rizatriptan and nasal zolmitriptan can be considered for children and adolescents, as well as oral almotriptan for adolescents. Propranolol is the first-line prophylactic medication for migraine.
Lehtoranta L, Valta M, Aantaa R
… +1 more, Perheentupa A
Duodecim
· 2016 · PMID 26939491
An increase in cardiac output during pregnancy increases the risk of arrhythmias for the expectant mother. Supraventricular tachycardia (SVT) underlies the sensations of arrhythmia in a pregnant woman in as many as one s...An increase in cardiac output during pregnancy increases the risk of arrhythmias for the expectant mother. Supraventricular tachycardia (SVT) underlies the sensations of arrhythmia in a pregnant woman in as many as one sixth of the cases. Vagal nerve (n. vagus) stimulation and adenosine serve as first-line treatment, but electrical cardioversion is likely to be a safe alternative as well. We describe a case in which the SVT of a woman in the third trimester of pregnancy was unresponsive to vagal nerve stimulation and pharmacological treatments. Electrical cardioversion was successfully performed after having a cesarean section procedure.