Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders.

FHL1 mutations have been associated with various disorders that include reducing body myopathy (RBM), Emery-Dreifuss-like muscular dystrophy, isolated hypertrophic cardiomyopathy, and some overlapping conditions. We report a detailed histochemical, immunohistochemical, electron microscopic, and immunoelectron microscopic analyses of muscle biopsies from 18 patients carrying mutations in FHL1: 14 RBM patients (Group 1), 3 Emery-Dreifuss muscular dystrophy patients (Group 2), and 1 patient with hypertrophic cardiomyopathy and muscular hypertrophy (Group 2). Group 1 muscle biopsies consistently showed RBs associated with cytoplasmic bodies.

A diagnosis challenge-L4 nerve root compression as the initial presentation of chronic inflammatory demyelinating polyneuropathy.

The authors present the case of a 65-year-old woman who was admitted for paraparesis and paresthesias in the inferior limbs. The neurological examination revealed the difficulty in extension of the right foot and of the right toe, accompanied by paresthesias located in the anterolateral area of the right leg, dorsum and plantar area of the foot, the reduction of the right knee jerk, and of the ankle tendon jerk both sides. The vertebro-spinal MRI showed lumbar canal stenosis with L4 intraforaminal compression on the right, and L2-L3 on the left.

Carnitine deficiency.

We present the case of a female patient, aged 12 years, with fatigability and exertional myalgias, progressively developed within the last two years. Negative family history, as well as negative personal medical history, were found. At physical examination, short stature, proximal muscle weakness and mild hepatomegaly were noted.

Value of immunohistochemical investigation in the diagnosis of neuromuscular diseases in children.

Unlabelled: Neuromuscular diseases represent an important group in pediatric pathology. Immunohistochemistry together with clinical examination and morphologic exam are very important in the diagnosis of neuromuscular disorders.

Patients And Methods: One hundred children diagnosed with neuromuscular disorders were included in a prospective-retrospective study in 25 years.

Dermatomyositis and polyradiculoneuritis, a rare association.

The association between dermatomyositis and polyradiculoneuritis is rarely citated in the speciality literature. Our patient had at first a disorder that looked like dermatomyositis, then she associated polyradiculoneuritis. At the presentation to our hospital the two diseases were combined, being very difficult to differentiate.

Advances in neuromuscular disease 2003: the year in review.

During 2003, numerous research advances in both clinical neuromuscular disease and in the basic pathophysiology of these disorders were published and/or presented. In this review, we present a few categorical highlights of the year, discussing a new potential treatment of McArdle's disease, proposed new diagnostic criteria for the inflammatory myopathies and their clinical implications, the emerging anti-MuSK antibody syndrome in patients with myasthenia gravis, potential new therapies for the most common hereditary neuropathy (Charcot-Marie-Tooth type 1A), the successful pharmacologic manipulation and its therapeutic implications of the genetic mechanisms underlying spinal muscular atrophy, and several emerging therapeutic strategies in amyotrophic lateral sclerosis. As these reports indicate, clinical and basic research in neuromuscular disease continues to yield important and clinically relevant insights, which are now being rapidly translated into new clinical trials showing therapeutic promise for diseases previously thought untreatable.

Primary synovial sarcoma of the kidney: a case report with literature review.

We describe a case of primary renal synovial sarcoma (SS) in a 48-year-old man. The patient presented with hematuria and was found to have a large tumor in his left kidney on computed tomography scan. Histology revealed a highly cellular spindle cell neoplasm with minimal pleomorphism.

Reconstruction of rabbit urethra with surgisis small intestinal submucosa.

Purpose: To evaluate the efficacy of Surgisis, porcine small intestinal submucosa, in the reconstruction of iatrogenic urethral defects in rabbits.

Materials And Methods: Eight male white rabbits were enrolled in this protocol. A 2.

Role of acellular collagen matrix surgisis in the endoscopic management of ureteropelvic junction obstruction.

Purpose: To investigate the role of acellular collagen matrix (Surgisis during endopyelotomy.

Materials And Methods: Nine female pigs (25-35 kg) were enrolled in our protocol. The pigs were categorized as follows.

Immunoglobulin Fc gamma receptor promotes immunoglobulin uptake, immunoglobulin-mediated calcium increase, and neurotransmitter release in motor neurons.

Receptors for the Fc portion of immunoglobulin G (IgG; FcgammaRs) facilitate IgG uptake by effector cells as well as cellular responses initiated by IgG binding. In earlier studies, we demonstrated that amyotrophic lateral sclerosis (ALS) patient IgG can be taken up by motor neuron terminals and transported retrogradely to the cell body and can alter the function of neuromuscular synapses, such as increasing intracellular calcium and spontaneous transmitter release from motor axon terminals after passive transfer. In the present study, we examined whether FcgammaR-mediated processes can contribute to these effects of ALS patient immunoglobulins.

Merosin-deficient congenital muscular dystrophy: neuropathology case reports.

The aims of our study were: to present cases of congenital muscular dystrophy (CMD) with deficiency in merosin and the importance of immunohistochemistry in the diagnosis of merosin-deficient CMD. In four years (1997-2000), we found three patients with merosin-deficient CMD, one of them having an unusual clinical and pathological manifestation of the disease. Muscle biopsies of gastrocnemius or quadriceps muscles were investigated.

Tail stent versus re-entry tube: a randomized comparison after percutaneous stone extraction.

Objectives: To evaluate the efficacy of a 7F tail stent with an 18F Councill nephrostomy tube and compare it to a 24F re-entry Malecot nephrostomy tube after percutaneous nephrolithotomy.

Methods: Forty patients were prospectively randomized to receive either a 24F re-entry Malecot nephrostomy tube (group A, n = 20) or a 7F tail stent with an 18F Councill nephrostomy tube (group B, n = 20) for postoperative drainage. Patients were evaluated with an analogue scale questionnaire 15 days after percutaneous nephrolithotomy at the routine office follow-up visit asking them to rate the flank pain on a 0 to 10 scale, urinary urgency on a 0 to 10 scale, and quality of life, while the external drainage tubes were still in place.

Management of malignant extrinsic compression of the ureter by simultaneous placement of two ipsilateral ureteral stents.

Background And Purpose: Extrinsic ureteral obstruction caused by various malignancies often necessitates urinary diversion. The use of single ureteral stents as a form of urinary diversion results in a high failure rate, while the use of two ipsilateral stents has shown promising results. We report our experience using the latter technique.

Parvalbumin overexpression alters immune-mediated increases in intracellular calcium, and delays disease onset in a transgenic model of familial amyotrophic lateral sclerosis.

Intracellular calcium is increased in vulnerable spinal motoneurons in immune-mediated as well as transgenic models of amyotrophic lateral sclerosis (ALS). To determine whether intracellular calcium levels are influenced by the calcium-binding protein parvalbumin, we developed transgenic mice overexpressing parvalbumin in spinal motoneurons. ALS immunoglobulins increased intracellular calcium and spontaneous transmitter release at motoneuron terminals in control animals, but not in parvalbumin overexpressing transgenic mice.

Immune reactivity in a mouse model of familial ALS correlates with disease progression.

Objective: The cause of motor neuron death in ALS is incompletely understood. This study aims to define the potential involvement of nonneuronal immune-inflammatory factors in the destruction of motor neurons in mutant superoxide dismutase-1 (SOD1) transgenic mice as a model of ALS.

Background: The presence of activated microglia, IgG and its receptor for Fc portion (FcgammaRI), and T lymphocytes in the spinal cord of both patients with ALS and experimental animal models of motor neuron disease strongly suggests that immune-inflammatory factors may be actively involved in the disease process.

Laparoscopic ureteral reconstruction with small intestinal submucosa.

Purpose: To evaluate the feasibility of laparoscopic ureteral reconstruction with small intestinal submucosa (SIS) in the pig ureter.

Materials And Methods: Eight female pigs weighing between 25 and 30 kg were enrolled. After anesthesia was administered, a double-pigtail stent was inserted, the animals were moved to a lateral decubitus position, pneumoperitoneum was established, and three 10-mm ports were positioned.

Radical prostatectomy versus brachytherapy for early-stage prostate cancer.

Background And Purpose: The considerations in choosing a treatment for prostate cancer are potential for cure, acute toxicity, long-term morbidity, quality of life, and direct and indirect costs. The classic options are radical prostatectomy, external-beam radiation, and watchful waiting. During the last decade, technological advances have fostered another: brachytherapy.

Cloacal exstrophy: a unified management plan.

Background/purpose: The belief that patients with cloacal exstrophy have a short and therefore useless colon is all too common. Frequently, the colon is used for urinary or vaginal reconstruction, and the possibility of a pull-through is lost. In the authors' experience, the use of a unified management plan allowed most patients to undergo pull-through and avoid a permanent stoma.

Ultrastructural evidence of calcium involvement in experimental autoimmune gray matter disease.

Experimental studies have suggested that increased calcium and inappropriate calcium handling by motoneurons might have a significant role in motoneuron degeneration. To further define the involvement of calcium in motoneuron loss we used the oxalate-pyroantimonate technique for calcium fixation and monitored the ultrastructural distribution of calcium in spinal motoneurons in experimental autoimmune gray matter disease (EAGMD). In cervical and hypoglossal motoneurons from animals with relatively preserved upper extremity and bulbar function, increased calcium precipitates were present in the cytoplasm as well as in mitochondria, endoplasmic reticulum and Golgi complex without significant morphologic alterations.

Experimental destruction of substantia nigra initiated by Parkinson disease immunoglobulins.

Background: Increased levels of free radicals and oxidative stress may contribute to the pathogenesis of substantia nigra (SN) injury in Parkinson disease (PD), but the initiating etiologic factors remain undefined in most cases.

Objective: To determine the potential importance of immune mechanisms in triggering or amplifying neuronal injury, we assayed serum samples from patients with PD to determine the ability of IgG to initiate relatively specific SN injury in vivo.

Methods: IgG purified from the serum of 5 patients with PD and 10 disease control (DC) patients was injected into the right side of the SN in adult rats.

Intracellular calcium parallels motoneuron degeneration in SOD-1 mutant mice.

Transgenic mice with Cu,Zn superoxide dismutase (SOD-1) mutations provide a unique model to examine altered Ca homeostasis in selectively vulnerable and resistant motoneurons. In degenerating spinal motoneurons of G93 A SOD-1 mice, developing vacuoles were filled with calcium, while calcium was gradually depleted from the cytoplasm and intact mitochondria. In oculomotor neurons, no degenerative changes, vacuolization, or increased calcium were noted.

1Alpha, 25 dihydroxyvitamin D3-dependent up-regulation of calcium-binding proteins in motoneuron cells.

Our understanding of selective neuronal vulnerability as well as etiopathogenesis of sporadic neurodegenerative diseases is extremely limited. In ALS, altered calcium homeostasis appears to contribute significantly to selective neuronal injury. Further in ALS, the absence of calcium binding proteins (calbindin-D28K, parvalbumin, and calretinin) correlates with selective vulnerability and cell loss.

Amyotrophic lateral sclerosis immunoglobulins increase intracellular calcium in a motoneuron cell line.

A hybrid motoneuron cell line (VSC4.1) was used as a model system to study the relationship between alterations in intracellular calcium and subsequent cell death induced by immunoglobulin fractions purified from sera of patients with ALS. Using fluo-3 fluorescence imaging, immunoglobulins from 8 of 10 patients with ALS were found to induce transient increases in intracellular calcium ([Ca2+]i) in differentiated VSC4.

Autoimmunity and ALS.

Significant evidence has accrued suggesting that antibodies to voltage-gated calcium channel are observed in at least some patients with sporadic ALS (SALS) and that such antibodies alter the function of these ion channels in vitro and in vivo. Further, passive transfer of these immunoglobulin-containing fractions into mice produces changes at the neuromuscular junction that are very similar to changes observed in patients with SALS. These changes reflect local alterations in intracellular Ca2+ homeostasis and, in animal models, may also evidence early changes of motoneuron injury, such as Golgi apparatus swelling and fragmentation.

Expression of calbindin-D28K in motoneuron hybrid cells after retroviral infection with calbindin-D28K cDNA prevents amyotrophic lateral sclerosis IgG-mediated cytotoxicity.

Calbindin-D28K and/or parvalbumin appear to influence the selective vulnerability of motoneurons in amyotrophic lateral sclerosis (ALS). Their immunoreactivity is undetectable in motoneurons readily damaged in human ALS, and in differentiated motoneuron hybrid cells [ventral spinal cord (VSC 4.1 cells)] that undergo calcium-dependent apoptotic cell death in the presence of ALS immunoglobulins.