• MeSH
• Diverticulitis diagnosis   therapy   MeSH
• Diverticulosis, Colonic diagnosis   therapy   MeSH

• Conspectus
• Patologie. Klinická medicína
• NML Fields
• gastroenterologie
• NML Publication type
• kolektivní monografie

• MeSH
• Alzheimer Disease MeSH
• Demyelinating Diseases MeSH
• Mental Disorders MeSH
• Infarction MeSH
• Brain Ischemia MeSH
• Middle Aged MeSH
• Humans MeSH
• Check Tag
• Middle Aged MeSH
• Humans MeSH
• Male MeSH
• Publication type
• Case Reports MeSH

• MeSH
• Amebiasis drug therapy   MeSH
• Anthelmintics MeSH
• Giardiasis drug therapy   MeSH
• Helminthiasis drug therapy   MeSH
• Tinidazole therapeutic use   MeSH
• Trichomonas Vaginitis drug therapy   MeSH
• Publication type
• Congress MeSH

• Conspectus
• Farmacie. Farmakologie
• NML Fields
• farmakoterapie
• farmacie a farmakologie
• parazitologie

• MeSH
• Cystic Fibrosis drug therapy   immunology   MeSH
• Adult MeSH
• Guanidines therapeutic use   MeSH
• Immunoglobulin G MeSH
• Immunoglobulin Fragments deficiency   MeSH
• Humans MeSH
• Check Tag
• Adult MeSH
• Humans MeSH
• Male MeSH
• Publication type
• Case Reports MeSH

• MeSH
• Femoral Artery MeSH
• Arterial Occlusive Diseases therapy   MeSH
• Lower Extremity pathology   MeSH
• Hemodynamics analysis   MeSH
• Vascular Surgical Procedures MeSH

• MeSH
• Arterial Occlusive Diseases diagnosis   MeSH
• Arteriosclerosis MeSH
• Cerebrovascular Disorders prevention & control   MeSH
• Diabetic Angiopathies diagnosis   MeSH
• Hemodynamics MeSH
• Humans MeSH
• Carotid Artery Diseases diagnosis   physiopathology   MeSH
• Ultrasonics diagnostic use   MeSH
• Check Tag
• Humans MeSH

Myotonická dystrofie 2. typu je způsobena expanzí čtveřice nukleotidů v genu ZNF9 ("zinc-finger protein 9") na 3. chromozomu. Ve srovnání s myotonickou dystrofií 1. typu (19ql3.3) se jedná o variantu, která se vyskytuje převážně v Evropě a je považována za méně častou. Oba typy sdílí řadu společných klinických znaků, ale i některé odlišnosti ve frekvenci klinických projevů. Byla vyšetřena skupina nemocných s klinickým a elektrofyziologickým obrazem myotonické myopatie, u kterých nebyla nalezena mutace odpovídající myotonické dystrofii 1. typu. Při DNA diagnostice byly použity metody PCR a „Triplet-Primed" PCR. Autoři nalezli 18 pozitivních mutací. Potíže probandů se manifestovaly od 20 do 50 let věku, v průměru v 33 letech. V 16 případech byla přítomna kořenová slabost dolních končetin, jeden nemocný měl naopak slabost spíše pletence ramenního. Ze systémových projevů byla v 9 případech přitomna katarakta, 2x skolióza, 2x leukoencefalopatie. Postižení převodního systému bylo nalezeno 3x, svalové bolesti udávalo 8 osoh.

Myotonic dystrophy of the 2nd type is caused by expansion of four nucleotides in gene ZNF9 („zinc-finger protein 9") on the 3rd chromosome. If compared with myotonic dystrophy of the 1st type (19ql3.3), it is a variant occurring mainly in Europe and considered to be of lesser frequency. Both types have a number of common clinical features, but also some dissimilarities in the frequency of clinical manifestations. An examination was carried out in a set of patients with clinical and electrophysiological pictures of myotonic myopathy in whom no mutation corresponding with myotonic dystrophy of the 1st type was found out. In the DNA diagnostics, methods of PCR and „TripletPrimed" PCR were appHed. 18 positive mutations were revealed. The probands' complaints were manifested between 20 and 50 years of age, on the average, at 33 years. 16 cases presented proximal weakness of the lower extremities, on contrary, one patient showed the shoulder girdle weakness. Out of systemic problems, cataract was present in 9 cases. scoliosis in 2 patients, leukoencephalopathy in 2 subjects. The involvement of a conductive system was found 3x, muscular pains were reported by 8 subjects.

• MeSH
• Molecular Diagnostic Techniques MeSH
• Research Support as Topic MeSH
• Humans MeSH
• Myotonic Dystrophy epidemiology   genetics   classification   MeSH
• Polymerase Chain Reaction methods   MeSH
• Check Tag
• Humans MeSH

• MeSH
• Diagnosis, Differential MeSH
• Drug Therapy MeSH
• Humans MeSH
• Common Cold etiology   drug therapy   physiopathology   MeSH
• Virus Diseases transmission   MeSH
• Check Tag
• Humans MeSH

• MeSH
• Common Variable Immunodeficiency diagnosis   complications   therapy   MeSH
• gamma-Globulins therapeutic use   MeSH
• Comorbidity MeSH
• Humans MeSH
• Prednisone administration & dosage   therapeutic use   MeSH
• Sarcoidosis diagnosis   complications   therapy   MeSH
• Check Tag
• Humans MeSH
• Publication type
• Case Reports MeSH

• MeSH
• Autoimmune Diseases immunology   MeSH
• Epidemiologic Methods MeSH
• Humans MeSH
• Neoplasms immunology   MeSH
• Immunologic Deficiency Syndromes etiology   MeSH
• Check Tag
• Humans MeSH