Ireneusz Wierzejewski: treatment of amputees of the upper limb in Poznan during the Great War.

INTRODUCTION: The Great War (1914-1918) caused a dramatic increase in the number of limbless invalids. Orthopaedics became the field of medicine that could offer the most effective help for those patients. OBJECTIVE: This review article aims to present how new operations and methods in the field of orthopaedics spread to other countries during the Great War. METHODS: Historical photographs of patients treated by being given hand prostheses are analysed and discussed as a case study of the transfer of orthopaedic techniques in Europe. The pictures were taken in a provincial military hospital, directed by Ireneusz Wierzejewski, the pioneer of orthopaedics in Poland. RESULTS: The methods of preparing stumps for prostheses at Wierzejewski's hospital followed the patterns of the time. In some cases, the prostheses were further modified to better help patients return to their former lives. CONCLUSION: The case of the Fortress Hospital in Poznan demonstrates that kinetic hand prostheses were also available in provincial hospitals. Modern orthopaedic procedures remain an effective treatment and a way to restore amputees to society.

Correction to: Jean Baptiste Octave Landry (1826-1865).

The original version of this article unfortunately contained a mistake. Title was incorrect. The corrected title is given below.

Co-occurrence of Jalili syndrome and muscular overgrowth.

Jalili syndrome is a rare disorder inherited in an autosomal recessive pattern manifesting as a combination of cone-rod dystrophy including progressive loss of visual acuity, color blindness, photophobia, and amelogenesis imperfecta with hypoplastic, immature, or hypocalcified dental enamel. It is caused by mutations in CNNM4, which encodes the ancient conserved domain protein 4. Here we report three brothers with Jalili syndrome and muscle overgrowth of the legs. Myopathic changes were found in needle electromyography. Mutational analysis showed in all three brothers a novel likely pathogenic homozygous missense substitution in exon 1 (c.1076T>C, p.(Leu359Pro)) of CNNM4. Both parents were carriers for the variant. In order to exclude other causative variants that could modify the patients' phenotype we performed exome sequencing and MLPA analysis of the DMD gene in Patient 1. These analyses did not identify any additional variants. Our results expand the mutational spectrum associated with Jalili syndrome and suggest that mild myopathy with muscle overgrowth of the legs could be a newly identified manifestation of the disorder.

Analysis of PRKN Variants and Clinical Features in Polish Patients with Parkinson's Disease.

The etiology of Parkinson's disease (PD) is still unclear, but mutations in PRKN have provided some biological insights. The role of PRKN mutations and other genetic variation in determining the clinical features of PD remains unresolved. The aim of the study was to analyze PRKN mutations in PD and controls in the Polish population and to try to correlate between the presence of genetic variants and clinical features. We screened for PRKN mutations in 90 PD patients and 113 controls and evaluated clinical features in these patients. We showed that in the Polish population 4% of PD patients had PRKN mutations (single or with additional polymorphism) while single heterozygous polymorphisms (S167N, E310D, D394N) of PRKN were present in 21% of sporadic PD. Moreover, 5% PD patients had more than one PRKN change (polymorphisms and mutations). Detected PRKN variants moderately correlated with PD course and response to L-dopa. It also showed that other PARK genes (SNCA, HTRA2, SPR) mutations probably may additionally influence PD risk and clinical features. PRKN variants are relatively common in our Polish series of patients with PD. Analysis of the PRKN gene may be useful in determining clinical phenotype, and helping with diagnostic and prognostic procedures in the future.

Serum homocysteine levels are decreased in levothyroxine-treated women with autoimmune thyroiditis.

BACKGROUND: Hyperhomocysteinemia is a well-known cardiovascular risk factor and its elevation is established in overt hypothyroidism. Since some authors suggest that chronic autoimmune thyroiditis per se may be considered as a novel risk factor of atherosclerosis independent of thyroid function, the analysis of classical cardiovascular risk factors might be helpful in evaluation the causative relationship. Data concerning the impact of thyroid autoimmunity in euthyroid state on homocysteine (Hcy) level is lacking. The aim of this study was to evaluate Hcy level in context of anti-thyroperoxidase antibodies (TPOAbs) in euthyroidism. METHODS: It is a case-control study. 31 euthyroid women treated with levothyroxine (L-T4) due to Hashimoto thyroiditis (HT) and 26 females in euthyroidism without L-T4 replacement therapy were enrolled in the study. All women with HT had positive TPOAbs. Forty healthy females negative for TPOAbs comparable for age and body mass index (BMI) participated in the study as controls. Exclusion criteria were a history of any acute or chronic disease, use of any medications (including oral contraceptives and vitamin supplements), smoking, alcoholism. RESULTS: TPOAbs titers were higher in both groups of HT patients versus the healthy controls. Hcy levels were found to be significantly lower in treated HT patients (Me 11 µmol; IQR 4.2 µmol) as compared with healthy controls (Me 13.35 µmol; IQR 6.34 µmol; p = 0.0179). In contrast, no significant difference was found between non treated HT and control group in Hcy level. The study groups and the controls did not differ in age and BMI. Furthermore, levels of TSH, FT4, TC, LDL, HDL and TAG did not differ between the study group and the control group. CONCLUSION: The main finding of the study is a decrease in Hcy level in treated HT as compared with healthy controls. Based on our observations one can also assume that correct L-T4 replacement was associated here with a decrease of Hcy. Furthermore, it seems that non treated HT in euthyroidism is not associated with Hcy increase, in contrast to overt hypothyroidism. This may be just another argument against the concepts about the role of "euthyroid HT" in the development of atherosclerosis.

[Psychopathological syndromes of neurological diseases in the elderly]. / Psychopatologia chorób ukladu nerwowego w wieku podeszlym.

Vascular and degenerative diseases of the central nervous system are one of the most common health problems in the elderly. Cognitive dysfunction, mood disorders and behavioural changes as well as psychotic symptoms constitute an invariable part of the clinical manifestation of these diseases. Psychopathological syndromes influence management decisions, commonly being a reason for patients' institutionalization; they are also a cause of suffering of patients and their caregivers and relatives. Relevant diagnosis of psychological symptoms is crucial in establishing adequate therapy, which improves quality of life of patients and their caregivers. The paper provides an overview of the psychopathological presentation of the most common central nervous system diseases in the elderly.

[Association study between exon 4 NFKBIL1 polymorphism and multiple sclerosis]. / Analiza polimorffizmu eksonu 4 NFKBIL1 w populacji chorych na stwardnienie rozsiane.

UNLABELLED: Multiple sclerosis (MS) is conceptualised as a complex autoimmune inflammatory disorder in which several environmental factors act together in a genetically susceptible individual to cause disease. Epidemiological data confirmed that genetic factors are involved in MS pathogenesis. Genes responsible for MS predisposition still await to be identified. The only consistent genetic finding, establishes so far, is the association between MS and a number of HLA haplotypes (locus 6p21.3). NFKBIL1 gene (locus 6p21.31) is one of candidate genes. One of NFKBIL1 gene coding sequence polymorphisms is a non-synonymous thymine-cytosine substitution at position 738 (exon 4) resulting in cysteine-arginine substitution at position 224 of encoded protein. THE AIM OF THE STUDY: To assess the NFKBIL 1 exon 4 contribution to MS genetic predisposition and its relationship to the clinical course of the disease. MATERIAL AND METHODS: 107 unrelated MS patients (77 female ones) attended in Department of Neurology Medical University of Poznari participated in this study. Control group included 110 healthy age and sex matched unrelated volunteers (71 female). Investigation of NFKBIL1 exon 4 polymorphism was performed with use of the single strand conformation polymorphism technique (SSCP). RESULTS: NFKBIL1 exon 4 polymorphism was observed in 10 patients and 9 control samples (9.35% and 8.18% respectively). The results remained statistically insignificant (p = 0.8136). Associations between the polymorphism and course of MS, clinical symptoms at onset, sex (p = 0.2851) and optic neuritis (ON) (p = 0.0865) were also insignificant. However, lack of statistical significance in the two latter parameters suggests insufficient size of the patients and control groups, as the absolute percentage values were remarkably different (respectively: 7.59% female vs. 14.28% male; 2.5% ON-positive vs. 13.4% ON-negative). CONCLUSIONS: The results of the present study do not provide evidence for the association between the NFKBIL1 exon 4 polymorphism and MS predisposition in the investigated Polish population. However, it may have a restricted result on MS course and a protecting effect on optic neuritis in MS patients.

[Clinical spectrum of neuroborreliosis]. / Obraz kliniczny neuroboreliozy.

Lyme disease is a multisystem infectious disease with a wide variety of symptoms involving the skin as well as nervous, musculosceletal and cardiovascular systems. Lyme disease is caused by spirochaete Borrelia burgdorferi transmitted by Ixodes tics in endemic regions. The diverse manifestations of neuroborreliosis require it to be included in differential diagnosis of many neurological disorders. The paper reviews the spectrum of clinical symptoms of nervous system involvement in early and late Lyme disease.

[Bilateral "crocodile tears syndrome" associated with Melkersson-Rosenthal syndrome--case report]. / Obustronny zespól krokodylich lez w przebiegu zespolu Melkerssona-Rosenthala--opis przypadku.

We present a rare case of bilateral crocodile tears syndrome (CTS) in the course of Melkersson-Rosenthal syndrome. Melkersson-Rosenthal syndrome is characterised by a triad of recurrent orofacial swelling, relapsing facial paralysis, and fissured tongue. The classic triad is infrequent and oligosymptomatic variants are seen more frequently. CTS is a rare complication of facial nerve paralysis characterised by inappropriate lacrimation on the side of the palsy in response to salivary stimuli. It results from aberrant reinnervation of the lacrimal gland by salivary parasympathetic fibres. The therapeutic approach for an acute bout of Melkersson-Rosenthal syndrome consists mainly of steroid administration. CTS management is composed of anticholinergic drugs and surgical procedures. Botulin toxin injection into the lacrimal gland is the most modern therapeutic option. In the case presented CTS developed in a 50-year-old man after 5 incidents of facial palsy due to Melkersson-Rosenthal syndrome. The case deserves attention due to the rarity of the observed symptoms and signs.

[Ischemic manifestation of adult moyamoya disease: a case report]. / Choroba moyamoya z czestymi incydentami niedokrwiennymi--opis przypadku.

Moyamoya disease is a chronic non-inflammatory cerebrovascular steno-occlusive disorder of unknown origin, with a typical pattern of collateral netlike vessels visualized in angiography. In Poland it is a relatively rare condition. A case of a 44-year-old non-Japanese woman with moyamoya disease is presented. Ischemic manifestation of the disease, rather uncommon in adults, and a long asymptomatic post-operative period are discussed.

[Molecular biology of polyglutamine diseases]. / Biologia molekularna chorób poliglutaminowych.

Polyglutamine diseases include at least 9 neurodegenerative disorders: Huntington's disease (HD), dentatorubral pallidoluysian atrophy (DRPLA), spinobulbar muscular atrophy (SBMA), and spinocerebellar ataxia (SCA) type: 1-3, 6-7 and 17, each caused by a CAG-trinucleotide repeat expansion in a different gene. The poly-CAG sequence is translated into a polyglutamine stretch in the respective proteins. This review discusses mutual molecular features of polyglutamine diseases. The formation of intranuclear inclusions, recruitment of physiological polyglutamine proteins as well as a potential role of molecular chaperones, capsases, and inhibition of histone acetyltransferases-depended transcription in cellular pathogenesis are considered.