Nerve growth factor expression in human dystrophic muscles

Nerve growth factor (NGF) is a neurotrophin that is expressed during muscle development and is also capable of favoring muscle regeneration in experimental studies. The presence of NGF in muscular dystrophies, such as Duchenne and Becker muscular dystrophies, has never been fully explored. By means of immunohistochemistry, we show that regenerating muscle fibers from such patients consistently express NGF, as do myofibroblasts and mast cells. By contrast, rest fibers from dystrophic patients, as well as muscle fibers from healthy, control patients and even regenerative muscle fibers in polymyositis do not show NGF immunoreactivity. The paracrine effect of NGF on muscle regeneration, as well as its chemoattractant capacities for mast cells, may contribute to explaining why regenerating fibers most frequently occur in clusters and why mast cells are more numerous in dystrophic muscles. Moreover, being a mediator of wound healing and tissue fibrosis, NGF may contribute to long-term muscle regeneration impairment by tissue fibrosis in the muscular dystrophies.     

Somatosensory evoked potentials and sensory involvement in multiple sclerosis: comparison with clinical findings and quantitative sensory tests

Sensory disturbances are one of the most common findings in patients with multiple sclerosis (MS). However, they are usually assessed at the standard neurological examination only. Quantitative Sensory Tests (QSTs) for temperature and vibratory sense allow a more objective evaluation. In a group of 19 clinically definite MS patients, we compared vibratory and temperature thresholds with sensory symptoms or signs at clinical neurological examination and somatosensory evoked potentials (SEPs) at the four limbs. The frequency of abnormalities of clinical symptoms/signs, vibration threshold and median SEPs were 69%, 33% and 55%, respectively. Correlation between degree of abnormality of SEPs and clinically assessed vibration sense (V) was statistically significant (P<0.007; Spearmann rank coefficient), as well as between SEPs and vibration perception threshold (P<0.02). Clinical evaluation of thermal sense did not show false positive results compared to quantitative thermal threshold, but false negative findings (35%). This study suggests that the combined use of vibration threshold and SEPs allows a better objectivation of sensory function, allowing the detection of subclinical abnormalities and possibly reducing the number of false positive results introduced by clinical assessment. Moreover QSTs are to be preferred to clinical evaluation in the assessment of thermal sense, due to their superior sensitivity.     

Posttraumatic epilepsy: neuroradiologic and neuropsychological assessment of long-term outcome

PURPOSE: We sought to detect the incidence and the risk factors of posttraumatic epilepsy (PTE) in rehabilitation patients; to define the influence of PTE for late clinical and functional outcome; and to assess the cognitive and behavioral features of the patients with PTE. METHODS: Patients were examined with (a) cognitive and behavioral examinations, which included a clinical interview and psychometric tests performed by an expert clinical psychologist; (b) single-photon emission computed tomography (SPECT) and magnetic resonance imaging (MRI); and (c) functional evaluation including the Glasgow Outcome Scale (GOS) and the Functional Independence Measure (FIM). RESULTS: Of the 143 patients examined in this study, in 27 (19%), seizures developed after a mean time from trauma of 11.9 +/- 8.6 months. The occurrence of PTE was significantly correlated with the hypoperfusion in temporal lobes (p < 0.004), the degree of hydrocephalus (p < 0.04), the evidence of intracerebral hematoma (p < 0.01), and operative brain injury (p < 0.001). Patients with epilepsy showed a significantly higher incidence of personality disorders than did patients without epilepsy. The uninhibited behavior, irritability, and agitated and aggressive behavior were significantly more frequent and severe in PTE patients. The psychometric tests intended to explore memory, language, intelligence, attention, and spatial cognition did not show any significant difference between those with and without epilepsy. PTE also was significantly correlated with a worse functional outcome 1 year after the trauma. CONCLUSIONS: The degrees of hydrocephalus and of hypoperfusion in the temporal lobes are significant risk factors for late PTE. Another main finding of our study is the absence of influence of epilepsy on cognitive disorders; its influence on neurobehavioral disorders and functional outcome is discussed.     

Reversal of acromegalic cardiomyopathy in young but not in middle-aged patients after 12 months of treatment with the depot long-acting somatostatin analogue octreotide

BACKGROUND: Cardiovascular disease is the most frequent cause of death of patients with acromegaly. AIM: To investigate whether young patients with a presumed short disease duration are more likely to reverse the acromegalic cardiomyopathy than older patients with longer disease duration. DESIGN: An open prospective design. PATIENTS: Ten young (aged < 40 years), and 12 middle-aged (41-59 years) patients with active acromegaly well controlled after 12 months of treatment with the depot formulation of octreotide (OCT-LAR); 22 sex- and age-matched healthy subjects as controls. METHODS: Left ventricular (LV) mass (LVM) by echocardiography and performance by equilibrium radionuclide angiography were measured before and after 12 months of OCT-LAR treatment. RESULTS: At study entry, none of the controls and 14 patients (63.4%) of whom six were young (chi2 = 17.7; P < 0.0001) had LV hypertrophy (LVH); none of the controls and four patients of whom one was young had insufficient LV ejection fraction (LVEF) at rest (< 50%); one control and 13 patients (59.1%) of whom five were young (chi2 = 12.7; P < 0.0001) had inadequate LVEF at peak exercise (deltaLVEF; < 5% increase of baseline). After 12 months, no change in haemodynamic and diastolic parameters was observed in both groups, except for a significant decrease in heart rate at peak exercise in young patients (P < 0.0001). The LVM index decreased significantly in both young (124.4 +/- 5.8 vs. 103.4 +/- 3.9 g/m2; P = 0.01) and middle-aged patients (140.9 +/- 7.9 vs. 117.8 +/- 6.6 g/m2; P = 0.03). LVH disappeared in 10 of 14 patients (71.4%): all six young and four of eight middle-aged patients (50%). LVEF at rest and at peak exercise increased significantly in both groups but deltaLVEF increased significantly only in young patients (1.5 +/- 2.9 vs. 13.7 +/- 5.2%, P = 0.04); it normalized in nine of 13 patients (69.2%), four of five young (80%) and four of eight middle-aged patients (50%). Exercise capacity (82.5 +/- 5.3 vs. 110.0 +/- 5.5 W, P = 0.005) and duration (7.3 +/- 0.3 vs. 9.9 +/- 0.4 min, P = 0.0003) also increased only in young patients. CONCLUSIONS: The acromegalic cardiomyopathy is reversed in most young patients with short disease duration and achieving disease control after OCT-LAR treatment for 12 months, indicating that early diagnosis and effective treatment are essential.     

Malignant nodular hidradenoma. A clinical case

Malignant clear cell hidradenoma is an uncommon tumor of eccrine sweat gland origin. In contrast to the benign form, malignant clear cell hidradenoma tends to invade the surrounding tissue and has a high incidence of distant metastases. For these reasons a wide surgical excision associated to a locoregional lymph node dissection should be performed alter the initial diagnosis. The case of a 17 year old female with this rare lesion is reported; the literature is reviewed and surgical treatment discussed.     

Early fetal akinesia deformation sequence: a case report with unusual autoptic features.

In this paper we report a case of early onset fetal akinesia, with unusual pathological findings. This is a product of medical abortion of young, healthy, unrelated parents. The mother's obstetrical history revealed two previous early miscarriages and a suspicion of FADS in the second previous gestation. At 17 weeks of gestation, an ultrasound examination disclosed absence of fetal movements, fixed extended knees and deformation of the feet. Amniocentesis showed a normal 46, XX karyotype. Hydrops fetalis and multiple skin webs (pterygia), which are usually present in cases of early fetal akinesia, were absent. A diagnosis of arthrogryposis was made and the pregnancy was terminated at 17 weeks of gestation. Postmortem examination was performed according to the necropsy technique suggested by Langley. Thus, body weight and external measurement, including crown-rump, crown-heel, foot lengths, head, thorax and abdominal circumferences were estimated and compared with standard values for assessment of fetal growth. External dysmorphic features were evaluated prior to the evisceration. On internal examination the location and shape of every organ was evaluated. Every organ, skin, muscles from different parts of the body, the brain and spinal cord were sampled and histologically examined. External examination revealed a female fetus with marked muscular hypoplasia of upper and lower extremities with thin arms and legs and multiple joint contractures of lower extremities. The face showed a flattened nose, micrognatia, hypertelorism, cleft palate and low-set ears. There was also a small nuchal fold. The abdomen was distended with a very thin and almost transparent wall. Histologically, muscles were characterized by severe fibrosis with fatty infiltration and by moderate variability in diameter of muscle fibers. The spinal cord disclosed a paucity of anterior horn motor neurons. We suggest multiple pterygium as a diagnosis. Lethal multiple pterygium syndrome (LMPS) is only a symptom and the precise diagnosis is more likely to be spinal atrophy. We, moreover believe that the paucity of spinal motoneurons could be due to the anomalies of programmed death during fetal development and the consequence of genetic defects.     

The development of a hospice junior volunteer program

In the United States, volunteer services are mandated by hospice Medicare guidelines; volunteers provide a very valuable service to patients, families, and other members of the interdisciplinary team. A hospice junior volunteer program can engage teens in the care of the dying in our communities. This article describes the development and implementation of a junior volunteer program at St. Thomas Hospice in Hinsdale, Illinois.     

Human sparganosis in Italy. Case report and review of the European cases

Infections with Spargana, the larvae of Spirometra spp., are rarely found in humans in Europe. So far only six cases have been discussed in the literature, four from Italy and two from France. We here report a new case in a 50-year-old workman, a freshwater sports fisherman from Bologna in Northern Italy. The infection manifested as a subcutaneous nodule in the thigh, 2x3 cm in size, slightly painful when compressed, somewhat mobile under the skin, present for 9 months, with recurrent periods of local itchiness associated with redness and slight oedema. The lump was removed surgically. Histological sections of the biopsied material revealed the presence of a sparganum. Drinking water contaminated by copepods, containing procercoid larvae of this parasite, seems to be the medium of infection.