Paraneoplastic brainstem encephalomyelitis and atypical form of chronic inflammatory demyelinating polyneuropathy in patient with testicular germinal tumor-is this an overlap syndrome? a case report.

Paraneoplastic neurologic syndromes are diagnosed when neurologic symptoms are associated with neoplasm and other causative factors are excluded. They may precede or be simultaneous to various types of neoplasms, mainly malignant. In men up to 45-50 years old the most common cancer causing the paraneoplastic syndrome is testicle tumor, manifesting usually as limbic/brain stem encephalitis and myelitis. Usually effective treatment of underlying neoplasm brings resolution of neurologic symptoms. But corticosteroids and intravenuous immunoglobulins are also used. In the presented case a 37-year-old man was primarily diagnosed and treated for progressive tetraparesis with signs of both upper and lower motor neuron dysfunction, associated with bulbar symptoms. Having various diagnostic procedures performed an atypical form of chronic inflammatory demyelinating polyradiculoneuronopathy was primarily suspected, but eventually a discovery of endodermal sinus tumor in the testicle enabled to state the diagnosis of possible paraneoplastic syndrome. In spite of chemotherapy the patient died shortly after the diagnosis because of infectious complications. Histopathology displayed intense inflammatory changes in the brain stem as well as in cranial nerves and cervical spinal cord. The same immunological process evoked by various pathogenetic factors (infection vs. neoplasm) may cause similar clinical picture and hinder the diagnosis. Most importantly it may delay the proper way of treatment.

The complication rate, but not the mortality rate, lower after percutaneous endoscopic gastrostomy than after open surgical gastrostomy: comparison of two methods in a high volume group of patients.

Introduction: Percutaneous endoscopic gastrostomy (PEG) has become the primary procedure for long-term enteral nutrition of most, but not all patients with dysphagia. Still in some patients gastrostomy may only be performed with open surgical technique (SG). Finally, in some patients due to relative contraindications to both methods, surgeons have to choose one of them. Aim: To compare PEG with SG in terms of effectiveness and safety. Material and methods: A retrospective study of 612 patients with dysphagia, who underwent PEG (573) or SG (39) was conducted. Authors analysed effectiveness of PEG and SG procedures as well as the type, frequency and treatment methods of complications classified according to Clavien-Dindo Classification. Results: The rate of all complications was significantly lower for PEG than for SG and a significant effect of the treatment type on the probability of serious complications was observed - notably lower after PEG (OR = 0.21, 95% CI: 0.05-0.8, p = 0.02). The 30-day mortality rate was 1.74% for PEG and 0% for SG. PEG patients who required laparotomy were over 30 times more likely to die than others. No significant effect of the nutrition status on the probability of serious complications was observed (OR = 0.83, 95% CI: 0.51-1.34, p = 0.46). Conclusions: A significant effect of the treatment type on the probability of serious complications was confirmed. This result was robust to the preoperative patients' nutrition status which was found to be insignificant. A lower risk of postoperative complications, a relatively easy procedure make PEG a procedure of choice in patients with dysphagia.

Pathogenic Mutations and Putative Phenotype-Affecting Variants in Polish Myofibrillar Myopathy Patients.

Myofibrillar myopathies (MFM) are heterogeneous hereditary muscle diseases with characteristic myopathological features of Z-disk dissolution and aggregates of its degradation products. The onset and progression of the disease are variable, with an elusive genetic background, and around half of the cases lacking molecular diagnosis. Here, we attempted to establish possible genetic foundations of MFM by performing whole exome sequencing (WES) in eleven unrelated families of 13 patients clinically diagnosed as MFM spectrum. A filtering strategy aimed at identification of variants related to the disease was used and included integrative analysis of WES data and human phenotype ontology (HPO) terms, analysis of muscle-expressed genes, and analysis of the disease-associated interactome. Genetic diagnosis was possible in eight out of eleven cases. Putative causative mutations were found in the DES (two cases), CRYAB, TPM3, and SELENON (four cases) genes, the latter typically presenting with a rigid spine syndrome. Moreover, a variety of additional, possibly phenotype-affecting variants were found. These findings indicate a markedly heterogeneous genetic background of MFM and show the usefulness of next generation sequencing in the identification of disease-associated mutations. Finally, we discuss the emerging concept of variant load as the basis of phenotypic heterogeneity.

[Prevalence of home mechanical ventilation in Poland]. / Rozpowszechnienie wentylacji mechanicznej w warunkach domowych w Polsce.

INTRODUCTION: Home mechanical ventilation (HMV) is increasingly used in the treatment of chronic respiratory failure thanks to rapid technological development, increasing number of elderly people and extension of indications. The aim of the study was to assess: prevalence of HMV in Poland, the proportions of lung disease and neuromuscular patients using HMV and the type of interface (invasive v. non-invasive). MATERIAL AND METHODS: The questionnaire was send to all institutions providing HMV in Poland and to regional departments of National Health System (NHS). RESULTS: All NHS departments responded. They reported 846 HMV users, 31% of children. The prevalence of HMV in Poland was assessed as 2,2 patient per 100.000 population without striking differences between provinces. Among 39 HMV centers in Poland 12 (31%) answered. They reported 206 patients (24% of all HMV users). Proportion of ventilation mode consisted of 59% (122 pts) treated via a tracheostomy and 41% (84 pts) with non invasive ventilation (NIV). 168 patients (82%) had neuromuscular diseases (ND), majority of them muscular dystrophy - 57 patients ( 34% of ND) and amyotrophic lateral sclerosis - 39 patients (23% of ND). There were only 38 patients (18%) with lung and thoracic cage diseases: 17 with COPD and 10 with kyphoscoliosis. CONCLUSIONS: The prevalence of HMV treatment in Poland has developed dramatically in the last decade, but is still very low comparing to other European countries, especially due to very low number of patients with lung and chest wall diseases. The prevalence of invasive mode of ventilation is extremely high. The most important factors which inhibit development of HMV in Poland are: omission of respiratory physicians in the process of qualification, lack of national guidelines, sophisticated demands for HMV providers. The awareness of the need of HMV especially in patients with respiratory failure due to obesity hypoventilation syndrome and restrictive lung diseases should be increased among chest physicians.

Juvenile onset acid maltase deficiency presenting as a rigid spine syndrome.

The rigid spine syndrome is a disorder characterized by proximal muscle weakness and limitation in flexion of the cervical and dorsolumbar spine. Such phenotype may be caused by a variety of hereditary myopathies. We present the case of a 15-years-old boy with rigid spine syndrome and severe restrictive respiratory changes. Muscle biopsy revealed vacuolar myopathy with excessive deposition of PAS-positive material. Lysosomal acid maltase activity in cultured skin fibroblasts was reduced to 6% of control values. DNA analysis demonstrated novel mutation E888X of acid alpha-glucosidase gene with compound heterozygosity IVS1/E888X, confirming diagnosis of Pompe disease. We conclude that acid maltase deficiency should be considered in the diagnosis of rigid spine syndrome.

Transcatheter closure of patent foramen ovale in patients with cryptogenic stroke.

BACKGROUND: Paradoxical embolism due to the presence of patent foramen ovale (PFO) is a well-established possible mechanism of ischaemic stroke of unknown origin. Mechanical sealing of the interatrial septum seems to be the most effective method for the prevention of stroke recurrences. AIM: To assess prospectively the short- and mid-term results of transcatheter closure of PFO in consecutive patients with a history of cryptogenic ischaemic stroke. METHODS: Between March 1999 and December 2002, thirty two patients with PFO (15 males, age from 19 to 55 years, mean 41 years) with a history of documented ischaemic stroke of unknown origin underwent transcatheter closure of PFO using an Amplatzer occluder. All procedures were performed under general anaesthesia and with transesophageal echocardiographic guidance. RESULTS: In all patients the procedure was effective and no complications were observed. During the follow-up period of a mean of 25.9 months (>12 months in 22 patients), no new neurological events were recorded. Control transesophageal echocardiography was performed in 28 patients mean 22.3 months after the procedure and confirmed the correct positioning of the occluder. A significant (>30 bubbles of contrast) residual shunt was detected in two patients. One patient developed episodes of paroxysmal supraventricular tachycardia which were effectively cured by radiofrequency ablation. CONCLUSIONS: Transcatheter closure of PFO is safe, effective and devoid of side effects connected with extracorporeal circulation. This procedure may become the treatment of choice in patients with the highest risk of recurrent ischaemic stroke.

Amiodarone induced pneumonitis and hyperthyroidism: case report.

Amiodarone is a highly effective antiarrhythmic agent used in life-threatening ventricular and supraventricular arrhythmias. Its long-term use may however lead to several adverse effects, including corneal deposits, liver and thyroid gland dysfunction, lung lesions, bone marrow injury, skin lesions, or neurological abnormalities. The article presents the case of a 56-year-old man with a history of a stroke, who after a few days of amiodarone therapy for an episode of atrial fibrillation was diagnosed with amiodarone-induced hyperthyroidism and interstitial pulmonary lesions. Clinical and laboratory symptoms of hyperthyroidism and radiographic signs of pulmonary involvement did not occur until several weeks after discontinuation of amiodarone therapy. Differential diagnosis of causes of hyperthyroidism and diseases causing nodular pulmonary lesions did not demonstrate any other pathologies. Empirical antibiotic therapy and administration of thiamazole and high doses of propranolol failed to improve the patient's clinical status. It was not until thiamazole was given in combination with glucocorticosteroids, when a slow relief of hyperthyroidism symptoms and resolution of radiographic pulmonary signs were observed. Based on the presented case, the risk of appearance of 2 serious concomitant adverse effects was demonstrated, even following a short-term amiodarone therapy. This paper also contains an overview of adverse effects which may be encountered during or after therapy with this effective antiarrhythmic agent. It was emphasized how important it is to select patients appropriately, and to monitor potential adverse effects during amiodarone therapy.