Following the completion of the Human Genome Project, a lot of progress has been made in understanding the genetic basis of motor neuron diseases (MNDs) and neuropathies. Spinal Muscular Atrophies ...(SMA) are caused by mutations in the SMN1 gene localized on Chromosome 5q11. Amyotrophic Lateral Sclerosis (ALS) has been found to have at least 18 different types, many of them associated to different genetic loci (e.g. SOD1, ALS2, SETX, FUS, VAPB, ANG, TARDBP and others), but many of the forms have still not been associated with a particular gene. Sensomotoric hereditary neuropathies (Charcot-Marie-Tooth) are a large heterogeneous group of various hereditary neuropathies, which have also been associated with a wide spectrum of genetic mutations, such as PMP22, LITAF, EGR2, P0 protein, KIF1B, MFN2, RAB7 and others. It is also apparent that more genes are being implicated, mutations discovered, and phenotypes recognised and broadened. Therefore, a lot of continuing, additional research effort will be required in the coming years to illuminate pathogenic mechanisms that underlie motor neuron diseases and neuropathies and that could lead to new and improved treatments.
Among other symptoms, multiple sclerosis can also produce symptoms of affective and cognitive disorders. The majority of patients have certain cognitive dysfunctions, and the' most common affective ...disorder is reactive depression. The aim of the study was to determine the correlation of the Mini-Mental State (MMS) and Beck Depression Inventory (BDI) scale scores with the Expanded Disability Status Scale (EDSS) score in patients with multiple sclerosis treated at University Department of Neurology, Sarajevo University Clinical Center in Sarajevo. We evaluated 50 randomly selected patients with various types of multiple sclerosis using the MMS, BDI and EDSS instruments. The study included 33 women and 17 men (66% : 34%), mean age 40.74 years (SD 9.236). The mean value of EDSS score was 3.98, ranging from 1.0 to 8.5 in women and from 1.0 to 6.5 in men. BDI scale scores showed a mean value of 12.56. The mean MMS score in baseline sample was 26.88. Statistically significant positive correlation was found between age and EDSS score, and negative correlation between EDSS and MMS, as well as between BDI and MMS. Study results indicated older patients with multiple sclerosis to have a higher EDSS score with more pronounced cognitive disturbances. There was no statistically significant correlation between EDSS score and depression.
The aim of this study was to determine the incidence of monosymptomatic optic neuritis (MON) and progression of MON to multiple sclerosis (MS) from the Mediterranean region of southern Europe in the ...County of Split-Dalmatia, Croatia during the 11 years period from 1991 to 2001. This study was made retrospectively on the 87 cases (59 female, aged 25.9 +/- 11.3 and 28 male aged 29.9 +/- 9.2) of MON, which were treated at the Department of Ophthalmology and Department of Neurology, Split, University Hospital, from January 1991 to December 2001. In each case the diagnosis was confirmed by a chart review and cases were ascribed to the data of admittance at hospital. The annual incidence of MON was 1.9 per 100,000 (95% CI, 0.4-3.5). The incidence among males was 1.2 (95% CI, 0-2.9) cases / 100,000 per year and 2.5 (95% CI, 0.1-4.9) among females. A significant seasonal variations in the incidence of MON was not found (chi2 = 6.81, p = 0.08). MS developed in 20 of 87 patients (22.9%) and median time was 25 (SE 8) months, (95% CI, 9-41) after the MON onset. After two years 12.6% of patients with MON developed MS, 20.6% after 5 years and 22.9% after 10 years. MS was slightly but not significantly more frequent in women than in men (chi2 = 0.72, p = 0.3). In conclusion, the progression of MON to MS in the County of Split-Dalmatia, Croatia was at a relatively moderate frequency.
Vascular compression of the facial nerve is a well recognized cause of hemifacial spasm (HFS). Magnetic resonance imaging (MRI) and magnetic resonance angiography (MRA) provide vascular and brain ...tissue diagnosis in a single non-invasive examination and should be recommended as primary neuroradiological procedure in HFS. We report a rare case of symptomatic HFS caused by a vertebrobasilar dolichoectasia. A 49-year-old women experienced left hemifacial spasm for 10 months. MRI showed an enlarged vertebrobasilar dolichoectasia of the left vertebral artery which compressed the seventh cranial nerve at its exit from the caude pons. MRI is essential in establishing the cause of HFS. Together with MR angiography it shows the correlation among the seventh cranial nerve, blood vessels and the structures of mid-brain. Vertebrobasilar delichoestasia is just one of the blood vessel anomalies which causes HFS and which can be shown by MRI. HFS caused by vertebrobasilar dolichoectasia is quite rare.
Following the completion of the Human Genome Project, a lot of progress has been made in understanding the genetic
basis of motor neuron diseases (MNDs) and neuropathies. Spinal Muscular Atrophies ...(SMA) are caused by mutations
in the SMN1 gene localized on Chromosome 5q11. Amyotrophic Lateral Sclerosis (ALS) has been found to have at least
18 different types, many of them associated to different genetic loci (e.g. SOD1, ALS2, SETX, FUS, VAPB, ANG, TARDBP
and others), but many of the forms have still not been associated with a particular gene. Sensomotoric hereditary neuropathies
(Charcot-Marie-Tooth) are a large heterogeneous group of various hereditary neuropathies, which have also
been associated with a wide spectrum of genetic mutations, such as PMP22, LITAF, EGR2, P0 protein, KIF1B, MFN2,
RAB7 and others. It is also apparent that more genes are being implicated, mutations discovered, and phenotypes recognised
and broadened. Therefore, a lot of continuing, additional research effort will be required in the coming years to illuminate
pathogenic mechanisms that underlie motor neuron diseases and neuropathies and that could lead to new and
improved treatments.
Peripheral nerve war injuries Vrebalov-Cindro, V; Reic, P; Ognjenovic, M ...
Military medicine,
05/1999, Letnik:
164, Številka:
5
Journal Article
Recenzirano
Odprti dostop
The purpose of this study is to evaluate peripheral nerve war injuries sustained during the war in southern Croatia and Bosnia and Herzegovina.
During the war in Croatia, 713 patients (99% male and ...1% female) with wounds inflicted by firearms were examined at the Laboratory of Neurophysiology, University Hospital, Split. The patients, soldiers and civilians alike, ranged in age from 6 to 73 years (average, 28 years). All patients with firearm nerve war injuries underwent detection by electromyography and plurisegmental examination of the damaged peripheral nerve (neurography). The patients were examined and controlled on three occasions: within 2 months after wounding; up to 6 months after wounding; and more than 6 months after wounding.
Single peripheral nerve lesions were present in 80% of the patients, and multiple peripheral nerve or plexus lesions were present in 20% of the patients. Peroneal and ulnar nerves were most often involved (20.9% and 19.8%, respectively). Associated massive injuries to the muscles, large blood vessels, or vital organs were present in 45% of the patients. Wounds were inflicted by shell fragments in 80% of the patients and by projectiles in 20% of the patients.
According to our results, better recovery was achieved with conservative treatment and when physical therapy was initiated early with maximal patient cooperation. Electromyoneurographic findings were the most valid in the prognostic classification of war-inflicted peripheral nerve injuries.
Pancreatic fistula most commonly occur as a consequence of resective procedures and pseudocyst drainage, and rarely as a consequence of splenectomy. Conservative treatment can have good results, but ...it is long lasting and demands long hospitalization. In case of conservative treatment failure, operative treatment is indicated, but this has significantly higher percentage of morbidity and mortality. In selected cases, conservative treatment with somatostatine or octreotide, along with endoscopic procedure including the use of fibrin glue, significantly accelerates sanation of the fistula and reduces the length of hospitalization. We report a case of exterior pancreatic fistula due to splenectomy following blunt abdominal trauma, which were successfully treated with conservative (infusion, antibiotics, enteral nutrition, and octreotide) and endoscopic therapy. During ERCP papillotomy was performed, and good external drainage using drainage catheter was important in the patient outcome. Considering the initial secretion of 300 mL/24 h, our patient had a high output fistula. Despite that, fistula was quickly resolved after treatment. Our opinion is that octreotide therapy and unobstructed drainage of pancreatic duct into the duodenum were the most important in the rapid resolution of the fistula.
Među drugim simptomima multipla skleroza može uzrokovati i simptome afektivnih i spoznajnih poremećaja. Većina bolesnika ima određene spoznajne disfunkcije, dok je najčešći afektivni poremećaj ...reaktivna depresija. Cilj studije bio je utvrditi korelaciju vrijednosti dobivenih pomoću ljestvica Mini-Mental State (MMS) i Beck Depression Inventory (BDI) s vrijednosti na ljestvici Expanded Disability Status Scale (EDSS) u bolesnika s multiplom sklerozom liječenih na Neurološkoj klinici Kliničkog bolničkog centra u Sarajevu. Procjena je obuhvatila 50 nasumce izabranih bolesnika s različitim tipovima multiple skleroze uz primjenu MMS, BDI i EDSS. Bilo je 33 žena i 17 muškaraca (66%:34%) srednje dobi od 40,74 (SD 9,236) godine. Srednja vrijednost EDSS bila je 3,98, u rasponu od 1,0 do 8,5 kod žena te od 1,0 do 6,5 kod muškaraca. Na ljestvici BDI srednja vrijednost je bila 12,56, dok je srednja vrijednost za MMS u ispitanom uzorku bila 26,88. Utvrđena je statistički značajna pozitivna korelacija između dobi i vrijednosti EDSS, dok je negativna korelacija utvrđena između EDSS i MMS te između BDI i MMS. Rezultati ovoga ispitivanja pokazali su da stariji bolesnici s multiplom sklerozom imaju višu vrijednost EDSS uz jače izražene kognitivne smetnje. Nije bilo statistički značajne korelacije između vrijednosti EDSS i depresije.
The aim of this study was to determine the incidence of monosymptomatic optic neuritis (MON) and progression of
MON to multiple sclerosis (MS) from the Mediterranean region of southern Europe in the ...County of Split-Dalmatia,
Croatia during the 11 years period from 1991 to 2001. This study was made retrospectively on the 87 cases (59 female,
aged 25.9±11.3 and 28 male aged 29.9±9.2) of MON, which were treated at the Department of Ophthalmology and Department
of Neurology, Split, University Hospital, from January 1991 to December 2001. In each case the diagnosis was
confirmed by a chart review and cases were ascribed to the data of admittance at hospital. The annual incidence of MON
was 1.9 per 100,000 (95% CI, 0.4–3.5). The incidence among males was 1.2 (95% CI, 0–2.9) cases / 100,000 per year and
2.5 (95% CI, 0.1–4.9) among females. A significant seasonal variations in the incidence of MON was not found (c
2=6.81,
p=0.08). MS developed in 20 of 87 patients (22.9%) and median time was 25 (SE 8) months, (95% CI, 9–41) after the
MON onset. After two years 12.6% of patients with MON developed MS, 20.6% after 5 years and 22.9% after 10 years. MS
was slightly but not significantly more frequent in women than in men (c
2 =0.72, p=0.3). In conclusion, the progression
of MON to MS in the County of Split-Dalmatia, Croatia was at a relatively moderate frequency.
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