Muscle exercise in limb girdle muscular dystrophies: pitfall and advantages

Different genetic mutations underlying distinct pathogenic mechanisms have been identified as cause of muscle fibers degeneration and strength loss in limb girdle muscular dystrophies (LGMD). As a consequence, exercise tolerance is affected in patients with LGMD, either as a direct consequence of the loss of muscle fibers or secondary to the sedentary lifestyle due to the motor impairment. It has been debated for many years whether or not muscle exercise is beneficial or harmful for patients with myopathic disorders. In fact, muscular exercise would be considered in helping to hinder the loss of muscle tissue and strength. On the other hand, muscle structural defects in LGMD can result in instability of the sarcolemma, making it more likely to induce muscle damage as a consequence of intense muscle contraction, such as that performed during eccentric training. Several reports have suggested that supervised aerobic exercise training is safe and may be considered effective in improving oxidative capacity and muscle function in patients with LGMD, such as LGMD2I, LGMD2L, LGMD2A. More or less comfortable investigation methods applied to assess muscle function and structure can be useful to detect the beneficial effects of supervised training in LGMD. However, it is important to note that the available trials assessing muscle exercise in patients with LGMD have often involved a small number of patients, with a wide clinical heterogeneity and a different experimental design. Based on these considerations, resistance training can be considered part of the rehabilitation program for patients with a limb-girdle type of muscular dystrophy, but it should be strictly supervised to assess its effects and prevent possible development of muscle damage.Key words: limb girdle muscle dystrophies, muscle fatigue, muscle exercise     

PLASMA ANDROGENS IN WOMEN WITH HYPERPROLACTINAEMIC AMENORRHOES

Cortisol, androstenedione, testosterone, dehydroepiandrosterone sulphate (DHAS) and free dehydroepiandrosterone (DHA) were measured in plasma of ten women affected by amenorrhoea with hyperprolactinaemia and eleven women affected by secondary hypothalamic amenorrhoea; twelve normal women at the second day of the menstrual cycle were used as controls. All subjects were hospitalized and 17-ketosteroids, 170H-corticosteroids and total dehydroepiandrosterone were also measured in urine. Plasma DHAS was increased in all subjects affected by amenorrhoea with hyperprolactinaemia, while plasma DHA and urinary DHA were significantly increased in this group in comparison to other groups. Plasma cortisol, androstenedione and testosterone and urinary 17-oxosteroids and 170H-corticosteroids were not significantly different in the three groups. In subjects affected by amenorrhoea with hyperprolactinaemia treated with bromocriptine a clear decrease of DHAS correlating with a decrease of plasma prolactin was observed. Since in women DHAS seems to be almost exclusively secreted by the adrenal gland and most of the circulating DHA is derived from adrenal secretion, these data suggest that human prolactin can stimulate DHAS production by the adrenal cortex.     

PLASMA DEHYDROEPIANDROSTERONE SULPHATE IN HYPOTHYROID PREMENOPAUSAL WOMEN

Plasma dehydroepiandrosterone sulphate (DHEAS), cortisol (F) and prolactin (PRL) were measured in seventeen premenopausal women with primary hypothyroidism and in fifteen normal premenopausal women. Significantly lower (P < 0.001) DHEAS levels were found in hypothyroid women while F and PRL were in the range of normal controls. No significant relation was found between DHEAS and total thyroxine (T4) and TSH. Our results support the hypothesis that DHEAS secretion is impaired in some women with primary hypothyroidism.     

Paget's Disease of the Thoracic Spine A Case Report

A case of cord compression, secondary to Paget's disease, and responding to medical therapy is presented. The role of current imaging techniques in this condition is discussed.     

Primary cutaneous follicular centre-cell lymphoma—a lymphoproliferative disease with favourable prognosis

In this study the clinico-pathological and immuno-histological features, the methods of treatment and follow-up data of 11 patients with follicular centre-cell (B-cell) lymphoma primarily presenting in the skin are reported. All the patients had nodular, tumorous and/or papulonodular skin lesions on the trunk. In nine patients the disease was confined to a circumscribed area of the back. Small papulonodular or plaque-like lesions, as well as large nodules or tumours, were biopsied in six of 11 patients. No clear-cut correlation between the age and clinical morphology of the lesions and their histological growth pattern was found. Interestingly, however, a different immuno-architectural pattern was observed in large, late lesions compared to small, early lesions. Initial treatment consisted of orthovolt radiotherapy (in two patients associated with surgical excision), resulting in complete remission in all patients. Only one patient developed extracutaneous disease, which was limited to a single drainage lymph node appearing simultaneously with a cutaneous relapse. Five other patients had recurrent disease in the skin close to the initial site. The median disease-free period was 15.5 months. On relapse, radiotherapy alone or in combination with short courses of chemotherapy was performed. This resulted in a second complete remission. All the patients are still alive and in complete remission, with a median survival of 37 months. These results confirm the favourable prognosis of patients affected with primary cutaneous follicular centre-cell lymphoma limited to the trunk. Orthovolt radiotherapy proved to be the most suitable treatment for both initial lesions and relapses limited to the skin.     

Non-lymphoid accessory cells in the cutaneous infiltrate of B cell lymphomas. An immunohistochemical and ultrastructural study

We have investigated the occurrence, immunohistochemical profile, ultrastructural features and relationships to lymphocytes of the non-lymphoid accessory cells in the dermal infiltrate of five patients affected by B cell lymphoma with secondary involvement of the skin. Typical non-lymphoid accessory cells were found in all cases. Most of these cells had ultrastructural features which resembled those of the poorly differentiated dendritic reticulum cells described in follicular lymphomas of the lymph nodes. The immunohistochemical findings of DRC-I+, C3b r+ dendritic cells often arranged in follicular-like structures with neoplastic B cells and only few, scattered OKMI+, OKM5+ mononuclear phagocytes support the hypothesis that the vast majority of the non-lymphoid cells observed in our cases were poorly differentiated dendritic reticulum cells. These results and previously published reports indicate that the organization of the dermal infiltrate of B cell lymphomas tends to reproduce the typical arrangement of the B zone of the lymphoid tissue, although with a lesser degree of differentiation, similar to that observed in lymph node follicular lymphomas.     

Immunohistochemical evidence suggests intrinsic regulatory activity of human eccrine sweat glands

Immunohistochemistry of normal eccrine sweat glands was performed on paraffin sections of human skin. Immunoreactivity (ir) for neuron specific enolase, S100 protein (S100), regulatory peptides, nitric oxide synthase type I (NOS-I) and choline-acetyltransferase (ChAT) was found in small nerve bundles close to sweat glands. In the glands, secretory cells were labelled with anticytokeratin antibody. Using antibodies to S100, calcitonin gene-related peptide (CGRP) and substance P (SP) a specific distribution pattern was found in secretory cells. Granulated (dark) and parietal (clear) cells were immunopositive for CGRP, and S100 and SP, respectively. Immunoreactivity was diffuse in the cytoplasm for CGRP and S100, and peripheral for SP. Myoepithelial cells were not labelled. Electron microscopy revealed electron dense granules, probably containing peptide, in granulated cells. Using antibodies to NOS-I and ChAT, ir was exclusively found in myoepithelial cells. Immunoreactivity for the atrial natriuretic peptide was absent in sweat glands. These results provide evidence for the presence of both regulatory peptides involved in vasodilation and key enzymes for the synthesis of nitric oxide and acetylcholine in the secretory coil of human sweat glands. It is suggested that human sweat glands are capable of some intrinsic regulation in addition to that carried out by their nerve supply.