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The purpose of the present study was to ascertain the frequency of Pap smears abnormalities (SIL/carcinoma) in two populations in the State of S. Paulo (Brazil) who were screened for cervical cancer during the last nine years: adolescents (up to the age of 21) and adults (over 21). Statistical analysis showed a tendency to linear increase in frequency of abnormal Pap smears in both groups (adolescent: slope = 0.118 +/- 0.56; adult: slope = 0.079 +/- 0.021), being greater in the adolescent group (slope 0.039 +/- 0.038) than in the adult group. Between 1987 and 1995 the prevalence of abnormal smears tripled in the adult group (from 0.37 to 1.18) and almost quadruplicated in the adolescent group (from 0.64 to 2.10). Low grade squamous intraepithelial lesions (SIL) were the most frequent findings in cervical cytology in both groups: 92.3% in the adolescent group and 69.8% in the adult group. Few cases of high grade squamous intrapeithelial lesions (HSIL) (7.7%) and no cases of carcinoma were found in adolescent population. We suggested that sexually active adolescents should be included in cervical screening programs.

Objective: To determine the protective effect of pralidoxime on muscle fiber necrosis induced by organophosphate acute intoxication in rats., Design: Adult male Wistar rats were given oral organophosphate compounds dissolved in glycerol formal: dichlorvos, isofenphos, metamidophos, and diazinon. Half of the animals also received pralidoxime mesylate (20 mg/kg, intraperitoneal). Control animals received only the solvent. Twenty-four hours after treatment, the diaphragm muscle was collected for histological counts of necrotic muscle fibers in transverse sections., Results: Metamidophos- and isofenphos-treated animals showed the highest percentage of necrotic muscle fibers: 1.66 +/- 1.112 and 1.34 +/- 0.320, respectively. Diazinon-treated animals had a lower percentage of necrotic fibers: 0.40 +/- 0.032 (p < 0.05) compared to the first 2 products, and dichlorvos-treated animals showed the smallest: 0.05 +/- 0.021 (p < 0.05) when compared to the other 3 products. Pralidoxime reduced necrotic fibers about 20 times in metamidophos-treated animals, 10 times in isofenphos-treated animals and 6 times in diazinon-treated animals. Pralidoxime administration did not increase plasma cholinesterase activity in any group, although symptoms were reduced., Conclusions: Oxime reduced diaphragmatic muscle necrosis in experimental organophosphate intoxication, despite little effect on plasma cholinesterase. Since respiratory insufficiency is an important cause of mortality and morbidity in organophosphate intoxications, early oxime administration may be particularly beneficial.

Acute intoxication with Senna occidentalis seeds was studied in chicks. Seven-day-old chicks were fed ground dried seeds of this plant mixed with regular chicken ration at a concentration of 4% by weight for 15 days. Feed intake and body weight were markedly affected and a high level of lethality was observed. Necropsy examination of chicks from the experimental group revealed paleness and atrophy of thoracic muscles. Degenerative and necrotic fibres were observed in skeletal muscle by histological examination. Muscle histochemistry showed accumulation of lipids and numerous acid phosphatase-positive muscle fibres. Electron microscopy revealed atrophic muscle fibres, lipid storage, dilatation of the sarcoplasmic reticulum and abnormal mitochondria.

Plants of the genus Senna (formerly Cassia) are poisonous to livestock and other laboratory animals, leading to a syndrome of a widespread muscle degeneration, incoordination, recumbence, and death. The main histologic lesion is necrosis of skeletal muscle fibers. Recently, a mitochondrial myopathy with ragged-red and cytochrome oxidase (COX)-negative muscle fibers was recognized in hens chronically intoxicated with parts of seeds of S. occidentalis. The purpose of the present work was to investigate if there was peripheral nerve involvement in the acute intoxication of chicks with S. occidentalis seeds. Teasing of individual fibers revealed signs of extensive axonal damage with myelin ovoids. Ultrathin sections confirmed the axonal damage. Axons were filled with membranes, some residual disorganized filaments, and enlarged mitochondria. In some instances the axon disappeared and there was secondary degeneration of the myelin sheath. The present work is the first description of the neurotoxic effect of S. occidentalis intoxication. Future work should attempt to determine the mechanisms involved in this neuropathy.

Rare cases of cerebral amebiasis have been described in AIDS patients. We report the case of a 46 year-old homosexual man with AIDS who developed an intermittent amnesia and a right palpebral ptosis. The cerebrospinal fluid contained 169 cells (75% lymphocytes). The patient died five days after hospitalization. Necropsy revealed thrombosis of small vessels of the periventricular regions as well as necrosis and hemorrhage of the periventricular tissue, cerebellum and brainstem. The inflammatory process was scarce and composed mainly of CD-68 positive macrophages. In these regions as well as in meninges there were many trophozoites of ameba of the Acanthamoeba group. Although cerebral amebiasis is rare even in AIDS, the clinician should be attentive to this diagnosis in patients with an insidious encephalitis and cerebral cognitive abnormalities, with or without focal motor signs.

A child affected by exertional chest pain secondary to gastroesophageal reflux (GER) disease is reported. Family history revealed the presence of rumination in two members. In our patient, heart diseases as well as other causes of chest pain were excluded. An ultrasound examination of the gastro-esophageal junction, performed in the first 15 minute of the post-prandial period, showed a pathological number of GER episodes. The patient was treated with cisapride (0.2 mg/kg t.i.d. per os). At follow-up, after three months, he was symptom-free. We repeated an ultrasound examination, which resulted normal. Ours is the first paediatric case characterized by exertional chest pain secondary to GER disease.

Objective: To study muscle biopsies, using histochemistry, on ten children with infantile dermatomyositis., Design: Series of ten patients (of whom eight patients had received treatment and two had not) were submitted to muscle biopsy in order to diagnose possible inflammatory myopathy or to detect recurrences. PLACE OF DEVELOPMENT OF THE STUDY: Public Health Service of São Paulo State., Participants: Children with clinical features of inflammatory myopathy., Intervention: Biopsies were performed on the vastus lateralis using local anesthetic. Histochemistry was performed according to standardized methods., Results: Architectural changes of the muscle fibers, necrosis of variable intensity and accentuated evidence of regeneration were observed in patients who had not received treatment (2 cases) and in one case where muscular weakness persisted in spite of corticosteroid therapy. Necrosis and regeneration were minimal or absent in cases treated for one year or more (4 cases). In 3 cases with clinical and laboratorial recurrences, muscle necrosis and architectural changes were detected., Conclusions: It was concluded that muscle biopsy could aid in diagnosing infantile dermatomyositis as well as in detecting recurrences even in cases without clinical activity of the disease.

Plants of the genus Senna (formerly Cassia) have been recognized as the cause of a natural and experimental syndrome of muscle degeneration frequently leading to death in animals. Histologically, it demonstrated skeletal and cardiac muscle necrosis, with floccular degeneration and proliferation of sarcolemmal nuclei. Recently, it was described as an experimental model of mitochondrial myopathy in hens chronically treated with Senna occidentalis. Currently, skeletal muscles of chicks intoxicated with seeds of the poisonous plant S. occidentalis were studied by histochemistry and electron microscopy. Since birth, the birds were fed ground dried seeds of this plant with a regular chicken ration at a dose of 4% for 11 days. Microscopic examination revealed, besides muscle-fiber atrophy, lipid storage in most fibers and a moderate amount of cytochrome oxidase-negative fibers. By electron microscopy, enlarged mitochondria with disrupted or excessively branched cristae were seen. This picture was characteristic of mitochondrial myopathy. These findings have hitherto remained unnoticed in skeletal muscle of young birds treated with S. occidentalis.

Some reports suggest that immunologic mechanisms may play a role in the pathogenesis of anemia in idiopathic myelofibrosis (IMF). Herein we report the case of a transfusion dependent IMF patient with psoriasis in whom cyclosporin-A (CyA) treatment for skin lesions (200 mg/day) was associated with long-lasting correction of anemia. After 2 months of CyA therapy the patient's Hb level increased and he became transfusion free in 4 months. After 12 months immunosuppressive therapy was discontinued due to renal toxicity, yet the Hb level remained stable for an additional 12 months. The patient is currently being administered CyA at a reduced dosage because of mild renal impairment along with transfusional support consisting of a median of 2 red cell units/month. Altogether the patient received no transfusional support for 36 months. This case, as well as other reports, suggests that the issue of immunosuppressive treatment in IMF anemia deserves further investigation.

The distribution of nucleolar organizer regions (NORs) was studied in Papanicolaou preparations of cervical smears in order to distinguish benign from preneoplastic lesions. Destained smears (six defined as normal, six as inflammatory with squamous metaplasia, six as CIN I, six as CIN II, and five as CIN III) were submitted to the Ag-NOR method after staining with Orange G and EA36. Ag-NOR count was performed in previously outlined fields on the smears. Statistically significant differences (P < .05) were found between the normal smears, inflammatory smears with squamous metaplasia, and each grade of CIN. We conclude that the Ag-NOR technique could be useful to evaluate cervical smears of doubtful interpretation, using previous demarcation of the abnormal fields/cells.

Objective: To suggest which system of cytologic classification (Bethesda System or World Health Organization [WHO]) of cervical lesions is more adequate for the Public Health Service of São Paulo State, Brazil, based on morphometric study with the Jandel Videoanalysis (JAVA) System., Study Design: The study comprised groups of typical smears: cervical intraepithelial neoplasia (CIN 1) separated into two subgroups: cytopathic effects of human papillomavirus associated or not with dyskaryosis, CIN 2 and CIN 3. The JAVA system of image analysis was used to determine the nuclear/cytoplasmic (N/C) ratio in abnormal cells from each group., Results: Significant differences were detected between the three grades of CIN and between the two subgroups of CIN 1., Conclusion: Although image analysis is not applicable to large-scale population screening of cervical smears, its use in the present study favored the three-grade cytologic classification (WHO). In addition, the three-grade classification offers the clinician more options for treatment. Considering the clinical-laboratory characteristics of our public health service, the three-grade classification is more adequate.

Thirty three biopsies of the uterine cervix were studied by the AgNOR method, that identifies the nucleolar organizer regions. These comprised 9 cases of cervicitis (with or without squamous metaplasia), 9 cases of cervical intraepithelial neoplasia grade I (CIN I), 8 CIN II and 10 CIN III. A hundred cells were counted and classified according to the number of AgNOR dots. We use a more practical and fast method of AgNOR dots counting in cervical intraepithelial neoplasia, in that we exclude the two basal layers and count only cells with 4 or more dots. Statistically significant differences for AgNOR dots were found between cervicitis or CIN I and CIN II cases (p < 0.02) and between CIN II and CIN III cases (p < 0.001). No statistical difference was found between the cases of cervicitis and CIN I. It was concluded that this method of AgNOR counting can be useful in the identification and classification of individual cases intraepithelial neoplasia and their differentiation from eventual difficult cases of cervicitis.

Polychlorinated biphenyls (PCBs) and dichlorodiphenyl trichloroethane (DDT) are the most frequent chemical contaminants present in human milk. Factors involving the levels of PCBs and DDT in human milk are revised. Allowable daily intake of both contaminants is indicated as well as their effect on human exposure are discussed. Since available data suggest that these contaminants are available for redistribution to the lactating mammary gland, we stress the importance of a dietary regimen to breast fed mothers in order to prevent the mobilization of body fat stores for milk fat synthesis.

The syndrome associated to the 9 ring is not commonly observed. The first remark was by Kistenmacher (1970) who examined a male. Later observation of other cases has allowed the syndrome to be described, so that it can be said to be characterized by constant signs, such as microcephaly, psychomotor retardation of varying entity and facial dysmorphism corresponding to that observed in 9 p monosomy. The variability of the phenotype has to be compared with the entity of the telomeric deletion, since the clinical outlook, especially the entity of retardation, could be less serious in case of small deletions.

Case of an infant with chronic cough is reported. The most frequent causes of chronic cough were ruled out. Twenty-four hour oesophageal pH-monitoring showed a close correlation between gastro-oesophageal reflux episodes and cough attacks. The patient was successfully treated with cisapride (0.3 mg/kg t.i.d.). These findings show that irritable oesophagus syndrome can cause chronic cough.

The case of an infant with Sandifer syndrome is reported. Real-time ultrasonography showed delayed gastric emptying time, which returned to normal when the patient was asymptomatic. The importance of gastric motility investigations in Sandifer syndrome is stressed since delayed gastric emptying could play a role in the pathogenesis of this disease.

Cases of two adolescents with recurrent abdominal pain, localized in the periumbilical area, due to primary oesophageal disorders are reported. Food allergy or intolerance, as well as other paediatric causes, were not involved in the pathogenesis of recurrent abdominal pain in these two patients. Case 1 was affected by primary gastro-oesophageal reflux disease: upper endoscopy with biopsies and oesophageal 24-hour pH-monitoring showed mild oesophagitis and pathological reflux index, respectively. Case 2 was affected by "irritable oesophagus syndrome": upper endoscopy with biopsies was normal and oesophageal 24-hour pH-monitoring showed a close correlation between gastro-oesophageal reflux and recurrent abdominal pain episodes. Both patients were successfully treated with cisapride (0.2 mg/kg t.i.d.) and ranitidine (2.5 mg/KG b.i.d.). These reports suggest that primary gastro-oesophageal reflux disease and irritable oesophagus syndrome may cause recurrent abdominal pain in children.

Organophosphates comprise a group of chemical compounds extensively used in farming as insecticides, which cause accidental poisoning in animals and men and are also used in suicide attempts. The toxicity of these compounds is due especially to the cardiac and respiratory impairment in consequence of autonomic nervous system disorders. However, it is known that some of these products induce a myopathy in experimental animals and humans. This myopathy is characterized by muscle cell degeneration, involving above all the respiratory muscles. Based on the fact that this involvement certainly enhances the respiratory impairment, this study offers an experimental method for routine evaluation of organophosphate myotoxicity, using a minimal and sufficient battery of stains and histochemical reactions, for muscle necrosis quantification. For this purpose, albino rats (Wistar) treated with the organophosphate paraoxon, were used both with and without antidotes (atropine or pralidoxime). Muscle fiber necrosis in the diaphragm of the rats treated with paraoxon or paraoxon and atropine, that affected about 15% of the fibers in some areas, was detected. In the group treated with paraoxon and pralidoxime, a minimal necrosis was seen, revealing a protective role of this later antidote during the development of myopathy.

Objective: Systemic sclerosis (SSc) is characterized by abnormal deposition of collagen in the skin and by visceral involvement. Muscle weakness is a relatively frequent complication of SSc, although severity varies. We studied muscle pathology in patients with SSc with progressive muscle involvement., Methods: We performed histochemical and immunohistochemical investigations to detect neural cell adhesion molecule (NCAM)., Results: Five of the 6 cases of SSc expressed NCAM in atrophic angulated fibers (some fibers stained heavily with oxidative enzymes)., Conclusion: Neurogenic involvement in SSc is more frequent than reported.

It has been described that women infected with the human immunodeficiency virus (HIV) present more frequent cytological abnormalities in cervicovaginal smears, generally related to infection by human papillomavirus (HPV). The present work is a study of cervicovaginal smears of 147 HIV-seropositive women submitted to routine gynecological examinations. The smears were stained by the Papanicolaou method. Cytopathic effects of HPV were found in 38 (25.8%) cases. Nuclear atypias of cervical intraepithelial neoplasia (CIN) were evident in 36 (24.5%) of these cases: 27 (18.4%), CIN I; 6 (4.0%), CIN II and 3 (2.0%) CIN III. Also 2 (1.4%) invasive carcinomas and one (0.7%) endocervical dysplasia were found. Other agents observed were: Candida sp, 19 (12.9%) cases, Gardnerella vaginalis, 19 (12.9%), Trichomonas vaginalis, 13 (8.4%), Chlamydia trachomatis 5 (3.4%), Mobiluncus sp 2 (1.4%) and Herpes simplex virus 1 (0.7%). This study emphasizes the high frequency of HPV/CIN cervicovaginal abnormalities in HIV-seropositive in our population. It is possible that immunological factors and sexual promiscuity are involved in this phenomenon.

Rhodococcus equi (Corynebacterium equi) is an aerobic actinomycetes, well described as a cause of pulmonary infection in different animals as horses, pigs and cows. This pathogen has a coccobacillar aspect and a variable acid-fast stain in tissues. Rare cases of human infection by Rhodococcus species were described, the majority by Rhodococcus equi, especially in patients with immunodeficiency syndrome (AIDS) in advanced stages of the disease. Usually the diagnosis of infections by Rhodococcus species is performed by positive blood or bronchoalveolar lavage cultures. Here we described a case of a pleuro-pulmonary infection by Rhodococcus equi, with malakoplakic-like lesions, that was the first manifestation of AIDS, whose diagnosis was performed by pleural biopsy (acid-fast bacteria with a variable coccobacillar aspect inside macrophages) and pleural fluid culture.

The authors report about 2-year-old female affected by orbital cellulitis. The most recent advances about physiopathology, diagnosis and therapy of orbital cellulitis are described.

The most recent advances about cystic fibrosis genetics are revised. Their clinical applications are reviewed: prenatal diagnosis, heterozygote screening, genotype and phenotype correlation, gene therapy.

Limb-girdle muscular weakness and wasting could be caused by different diseases (inflammatory and hereditary myopathies, muscular dystrophies and neurogenic atrophies). Among these, Limb-Girdle Muscular Dystrophy (LGMD) is an heterogeneous group of pathologies that have progressive proximal limbs and girdle weakness, with some dystrophic features by the muscle biopsy. We studied a case of LGMD in an adult man with a typical histological and histochemical profile, associated to a mitochondrial deficit characterized by presence of ragged-red fibers, a histochemical Cytochrome Oxidase deficiency and abnormal mitochondria by ultrastructure.

A 21-year-old female patient with psychotic symptoms developed hyperthermia, muscular rigidity and hypertension after administration of haloperidol. A muscle biopsy showed some atrophic and necrotic fibers, and a great number of fibers with central cores in the oxidative enzyme preparations. A related syndrome, Malignant Hyperthermia (MH), is sometimes associated with central core disease. The present case shows an association of a hyperthermic syndrome related to haloperidol with central core disease.

Sputum samples from AIDS patients with and without pulmonary tuberculosis were analyzed morphologically and immunocytochemically to determine the frequency of occurrence of Candida sp. Mycobacterial infection was detected by bacterioscopy and/or culture and cytological evaluation was performed using Papanicolaou and Toluidine Blue staining. Immunoreaction for Candida sp was performed using polyclonal antibody in selected cases with fungal structures in smears stained by the Papanicolaou or Toluidine Blue method. An increased frequency of Candida sp (2.5 times) was observed in the tuberculous group compared to the group of AIDS patients without tuberculosis. The Toluidine Blue stain showed good results for the detection of Candida sp in sputum. Due to the increased risk of this opportunistic infection among more severely immunocompromised patients. Toluidine Blue staining of sputum samples submitted to analysis seems to be a reliable screening method.

Three members of a family with a hereditary neuropathy were studied. Light, electron microscopy and teasing of isolated fibres were performed. The findings confirmed the clinical and electrophysiological hypothesis of hypertrophic form of Charcot-Marie-Tooth disease. Hypertrophy of Schwann cells with the formation of onion bulb figures as the most evident ultrastructural feature, besides demyelination, remyelination and mild axonal degeneration. Recent data about the genetic transmission and pathogenesis of the hereditary motor and sensory neuropathies (HMSN) are discussed.

We studied the incidence of cervical Chlamydia trachomatis (CT) in 65 adolescents aged between 14 and 19 years and 65 adults aged 20 years or more. All subject were more than three months advanced in a normal pregnancy. Two samples for cytology were obtained from each patient, one ecto- and endocervical, with Ayre's spatula and cytobrush, and one only endocervical with cytobrush. The first one was examined after Papanicolaou staining and the second one was examined with the easily performed immunofluorescence reaction to CT (IF)--Microtrak, SYVA. Twenty seven adolescent patients (41.5%) and fourteen adults (21.5%) had a positive IF test for CT; the rate in adolescents was significantly higher (P < 0.01) than in adults. The Papanicolaou (Pap) stained slides, examined blind for evidence of CT infection showed a sensitivity of 70.7%, a specificity of 95.5% and positive and negative predictive values of 87.8% and 87.6% respectively. Seven adolescents showed cytological signs of Papillomavirus (HPV) infection, and six of them were also CT positive; five had signs of HPV infection and 4 of them were CT positive.

A comparison between two sampling methods of cervicovaginal material--cytobrush and Ayre's spatula--was performed to verify the endocervical cell concentration in a group of 163 asymptomatic women. Age ranged from 18 to 57 years, with an average of 30. Smears of both methods showed satisfactory cellularity for study. Cytobrush showed endocervical cells (columnar and/or metaplastic) in 100 cases (61.3%) and Ayre's spatula in 39 (20.2%). Cytobrush showed more efficient results in terms of endocervical cell concentration; according to literature, this can be an important factor in the sensitivity of the cytologic method to detect intraepithelial neoplasia.

Two methods of staining (Papanicolaou versus direct immunofluorescence) and two methods of collection of the samples (Ayre's wooden spatula versus cervical Cytobrush) were compared in order to verify the efficiency in detecting Chlamydia trachomatis (CT) infections in the female genital tract. Out of 166 asymptomatic patients, 59 were positive for CT by means of direct immunofluorescence: 36 were detected in Cytobrush samples, 16 in Ayre's spatula samples, and 7 in the samples collected by both methods. Papanicolaou smears showed "moth-eaten" features suggestive of CT infection in a great number of metaplastic cells present in 35 cases: 24 collected by Cytobrush, 4 by Ayre's spatula and 7 by both methods. Our data show that Cytobrush is more efficient that Ayre's spatula in concentrating cellular material. It is thus possible to detect CT infection with more accuracy by means of direct immunofluorescence, and to suspect CT infection in smears collected by means of Cytobrush and stained by Papanicolaou's method.

Neurological signs and segmental demyelination in a cervical nerve were observed in rats treated orally with permethrin (300 mg/kg/day) for 5 days. Inflammatory and degenerative signals were recorded in the diaphragm muscle. These effects were more intense with the trade grade than with the technical grade product. The possible influence of the percentage of cis:trans isomers on the intensity of the observed effects is discussed.

Twenty-two women with uterine carcinoma with morphological alterations postradiation treatment suggestive of Chlamydia trachomatis infection were analyzed by direct immunofluorescence. The diagnosis was confirmed in 12 (54.4%) cases. Discussions of the presence of Chlamydia in irradiated cells were not found in the literature. This finding may signify a posttherapeutic morbidity or a preradiation infection.

A case of XXXXY syndrome in a 15 year old male is reported. Clinical findings (mental retardation, muscular hypotonia, hypogonadism, characteristic facies), chromosome analyses as well as fingerprint ridge counts were typical of the syndrome. Several radiological abnormalities were found. It is noteworthy that features consistent with epiphysial dysplasia were present. In the patient's kindred a case of "cri du chat" syndrome and a 5:9 balanced translocation were discovered.

One hundred and sixty-one cervicovaginal smears of women seen at the Instituto Adolfo Lutz, Laboratory I, in Taubaté (SP) were examined cytologically by the Papanicolaou method and by direct immunofluorescence (IF) for Chlamydia trachomatis (Ct). Thirty-three cases (20.5%) had positive results for Ct in the IF. With the Papanicolaou method, those cases presenting fine vacuolation in endocervical metaplastic cells according to recent criteria were suggestive of Ct infection. Compared to IF, the Papanicolaou method showed high sensitivity (91.6%) in the group of smears containing endocervical cells. The IF is a high sensitivity and specificity method, but its cost cannot be afforded by a great portion of our population. In view of the high incidence of Ct infection in the female genital tract, the authors concluded that the Papanicolaou method in smears containing endocervical cells may be considered the first option for the detection of this agent.

Some authors recently suggested the role of Chlamydia trachomatis as a potentiating agent of female genital tract neoplasias. Cervicovaginal smears of women with uterine carcinoma treated with radiotherapy are analyzed in the present work. A series of such smears showed morphological changes suggestive of Chlamydia infection with the Papanicolaou stain. Confirmation of the presence of such agent was done using an avidin-biotin-peroxidase technique. A higher prevalence of Chlamydia in the group of patients with carcinoma of the uterus treated with irradiation than in the population without ionizing treatment was verified. The presence of cells with radiotherapic changes infected by Chlamydia is a new finding in cytology.

A de novo tetrasomy 15 has been reported, in a 6 years old child. The patient had severe mental retardation an minimal physical stigmata, consisting in slight skeletal and facial dismorphism. Cytogenetic analysis showed that extrachromosome, G-like long, was bisatellited and dicentric and was interpreted either as an inversion duplication 15 or as 15; G or D translocation.

A case of 38 year old man who worked with organochlorinated and Parathion during 5 years is reported. His follow-up was up to 2 years. The onset of the disease was characterized by cholinergic signs, headache, loss of weight, trembling, miokimias, fasciculations, ataxia, myotonic phenomena (in hands only) and motor sensitive peripheral polyneuropathy (affecting the lower limbs symmetrically). Low concentrations of blood cholinesterases confirmed the etiology. Myotonic phenomena disappeared spontaneously 6 months after the initial observation. One year later, the concentration of erythrocyte acetylcholinesterase was found to be low and plasma cholinesterase was normal, suggesting that the patient was carrier of a congenital deficiency of acetylcholinesterase. In literature relationship between myotonia and intoxication due to organophosphorus was not found. The whole clinical picture, cholinergic symptoms, transitory phenomena and spontaneous motor activity could be explained by an excess of acetylcholine. Electromyography (EMG) in the first observation showed neuromuscular transmission blocking characterized by deficiency or absence of voluntary activity, unexcitability of fibular nerves, with fibrillations and positive peaks as described previously with Mipafox (another organophosphorus agent). During 2 years of observation numerous end-plates potentials of muscular fibres persisted in the EMG. A progressive increase in voluntary activity showed by unit motor potential of almost normal amplitude and very increased duration was observed. No potentials of reinnervation were noted. The results of EMG were explained as disturbances of neuromuscular transmission associated with moderate signs of denervation. The Eaton-Lambert's test and the stimulation of a single unit motor potential confirmed disorder of neuromuscular synapses. The histochemistry of brachial biceps showed scattered atrophic and angulated type I and II fibres. Teased-fibres preparations showed nerve fibres with B, C, and G alterations as defined by Dyck et al. indicating axonal degeneration. These results were according to velocity of sensitive conduction. The conduction velocity of fibular nerves was strongly delayed during all the evolution indicating serious disorders of motor nerves myelin.(ABSTRACT TRUNCATED AT 400 WORDS)

A cases of myotubular myopathy in a 10 years old girl is reported. Clinically, palpebral ptosis, ocular movements limitation, facial diplegia, positivity of Gower's test, muscular hypotrophy distal, foot drop and deep absent reflexes were found. These signals were described by most of authors, besides symptoms referred, like partial urinary incontinency and frequent vomits. Reflexes H absents and teary in our patient were observed but were not described in the other cases of the literature. Routine laboratory tests were within normal limits; only aldolase was lightly elevated. In all muscles examined it was noted a spontaneous electromyographic activity with +- of 2,64 +/- 1,33 ms, 36,87 +/- 30,87 microV and 88,13 +/- 24,82 /s of frequency without characteristics of desenervation potentials of myoneural plates. The voluntary electromyographic activity was of myopathic pattern. A curve I/D made in the motor point of braquial biceps muscle was normal. The biopsy was made in the motor point of this muscle for histochemical, electron immunofluorescence and vital stain microscopy. The biopsy showed 35% of fibras with central nuclei, predominance and hypotrophy of type I fibres, in some of them there were not myofibrils in the central zone, and poor differentiation between the fibre types in oxidative enzymes reactions. The electron microscopy confirmed the histochemical studies. The direct immunofluorescence was positive in some fibres. The vital stain showed beaded subterminal motor fibres. The clinical, electromyographic and principally histological findings suggest a innervation congenital disorder of muscle fibres.

A case of Aarskog syndrome in a 6-years old boy is reported. The patient showed clinical pictures typical of the syndrome: characteristic dysmorphic facies, palpebral ptosis, brachyfalangism, abnormality of the scrotum. Minimal stigmata and clinodactyly of 5th finger were present in a sister. Isolated bilateral clinodactyly was found in other 4 members of the family. The significance of this sign in the context of the syndrome has been discussed. Unusual dermatoglyphic patterns were present in the proband, mother and sister.

Acetylsecohemicholinium No. 3 (AcHC-3), the acetate of the open ring (seco form of hemicholinium No. 3, HC-3) hydrolyzes in vitro to the hemiacetal HC-3 at pH values above 9, a temperature-dependent conversion illustrated by ultraviolet spectral shifts from 305 to 257 mmu, and to a limited extent by certain esterases as measured by manometric analysis. An LD50 of 125 mug/kg for a neutral solution of AcHC-3 was decreased to 78.3 mug/kg (the LD50 of HC-3) upon being made basic. Prolonged treatment of mice with LD10-20 doses of AcHC-3 was associated with decreased fatty acid oxidation in the liver and resulted in infiltration of fat into hepatic cells, a reaction preventable by treatment with small doses of choline (10 mg/kg). AcHC-3 causes neuromuscular and autonomic ganglionic blockade, cholinesterase inhibition, and in vitro inhibition of acetylcholine (ACh) synthesis. These actions, although HC-3-like, appear to be due to AcHC-3 rather than HC-3 since neither cholinesterase inhibition nor hepatic ligation altered the neuromuscular blocking actions of AcHC-3. In addition to its HC-3-like properties, AcHC-3 consistently produced a transient increase in twitch height of gastrocnemius muscle before blockade and was dose-responsive in depressing blood pressure and in eliciting contractions of the isolated guinea pig ileum. AcHC-3 is both a cholinomimetic (depresses arterial blood pressure, decreases heart rate and increases ileal contractions) and a competitor of acetylcholine. That is, in most preparations tested, AcHC-3 at lower concentrations has as much intrinsic activity as ACh and at somewhat higher concentrations competitively blocks the responses to ACh. These cholinomimetic actions may be due to the presence of two ACh moieties on the AcHC-3 molecule which attach to cholinergic receptor sites. Also noted was an action of AcHC-3 that seems to be peculiar to the secohemicholiniums, namely, the potentiation of catechloamines.

Myasthenia gravis is a neuromuscular disease characterized by excessive fatigability of muscle function and particularly involves muscles innervated by the cranial nerves. It is believed that the defect is in the neuromuscular junction. The authors studied histochemical and morphometric findings in 4 patients with myasthenia gravis showing that the type II fibres were significantly smaller than the type I fibres.

A father and three of his offspring had skeletal abnormalities consisting of a short forearm, cubitus valgus, fusion of first and second cervical vertebrae, and cleft of L5 and S1. All four had a reciprocal, apparently balanced, translocation 2;8(q32;p13). Normal sibs had normal chromosomes. We conclude that this may be a rare instance of an autosomal dominant condition associated with a balanced chromosome translocation.