Joanna Sher

Acute myopathy with selective lysis of myosin filaments

An acute reversible myopathy characterized by extensive lysis of myosin occurred in a patient who suffered from severe shock, hypoxia, and acidosis. This new clinical pathologic entity illustrates an unusual structural change in muscle associated with these catastrophic clinical circumstances.

Subdural hematoma secondary to metastatic neoplasm: report of two cases and a review of the literature.

Subdural hematoma secondary to dural metastases is a rare event. Vascular obstruction due to invasion of dural vessels is an important etiological factor. When this is associated with a clotting defect, the subdural hematoma can cause significant clinical symptoms and death. Two cases are presented with a review of the literature. Cancer 42:2015‐2018, 1978.

Centronuclear myopathy heterogeneity Distinction of clinical types by myosin isoform patterns

We studied muscles from 3 patients with centronuclear myopathy (CNM) by immunocytochemistry using myosin heavy chain (MHC)-specific monoclonal antibodies to determine whether subtypes of CNM express prenatal MHC and to assess if there is an arrest in development of these muscles. Muscle from a woman with childhood-onset CNM did not express prenatal MHC, yet this prenatal MHC was strongly expressed in the muscle fibers of 2 brothers with X-linked CNM. This finding represents the 1st immunocytochemical evidence of the expression of a prenatal myosin isoform in nonregenerating postnatal human muscle and suggests that the X-linked form of CNM differs from the other types because of a true arrest in maturation of the muscle.

Lissencephaly: two distinct clinico-pathological types

The present study is a review of four new cases of lissencephaly and two others previously reported. This study demonstrates that lissencephaly is a gross feature of the brain occurring in two different groups of cortical malformations. The first group, the classic agyria syndrome extensively analyzed by Jellinger and Rett [8] includes two types of abnormal cortical organization. They may be found in familial syndromes and also can appear sporadically. The second group includes smooth brains with the internal features of polymicrogyria and a more severely disorganized cortex. This type appears in familial lissencephaly in the cerebro-oculo-muscular syndrome, belonging to the same group as Fukuyama congenital-cerebro-muscular dystrophy. The other incidences of this type of cortical malformation require further investigation. The clinico-pathological differential diagnosis of two types of lissencephaly are also discussed.

An autopsy case of hemimegalencephaly

This case report is a neuropathological study of a ten-month-old infant with unilateral megalencephaly . In this anomaly neuronal migration defect and disturbances of cortical organization resulting in micropolygyria were the most striking neuropathological feature.

SKELETAL MUSCLE FIBER TYPES IN the ADULT MOUSE

The ATPase reaction and its pH lability demonstrate three fiber types in the adult mouse gastrocnemius; Type I (light staining with alkaline preincubation and dark with acid preincubation), Type IIA (dark after alkaline preincubation), type IIB (dark after alkaline and acid preincubation). the SDH and NADH‐tetrazolium reductase reactions also demonstrate three types of fibers; those low (A), intermediate (B) or high (C) in oxidative enzyme activity. However, the use of both procedures in serial sections demonstrates that four different combinations occur; the IIB fibers are high in SDH activity, the I fibers are intermediate in SDH enzyme activity, while the IIA fibers are either low or intermediate in SDH activity. These fiber types are present within the gastrocnemius muscle in a distinct pattern of zones. the predominant fiber type, located in the superficial half of the muscle, is the IIA (A) fiber which is high in ATPase and low in SDH activity. This is consistent with the fact that the gastrocnemius is generally considered a white, fast muscle. the IIB and I fibers are fewer in number and are located deeper in the muscle.

Centronuclear myopathy: clinical and pathologic features. Unlike early onset myotonic dystrophy, this condition is not associated with mental retardation or clinical or electric evidences of myotonia.

was 2,722 gm. No abnormalities were noted at birth, and his neonatal and infancy periods were uneventful. He sat up at 6 months, and walked at 1 year of age. During infancy, however, he had difficulty in controlling his head and appeared to be weak. When he walked, he would waddle and could hardly get up from the recumbent position. There was no history of muscle pains, cramps, dark-colored urine, visual disturbances, or difficulty in swallowing or breathing or talking. He had had several &dquo;blackout&dquo; spells, occuring after strenuous exercise, without tonic-clonic

A morphological comparison of the regional distribution of methadone in human and rat brain as demonstrated by immunofluorescence

The brains of ten narcotic addicts who had died from an overdose of methadone, and the brains of ten rats, given methadone for one month, were examined by the immunofluorescent technic. Positive neuronal fluorescence was seen primarily in the limbic systems of both species as well as in closely associated areas. In the human, Purkinje cell fluorescence was seen in the cerebellum, whereas only stellate cell staining was observed in rat cerebellum. Neurons of the hippocampal denate gyrus often fluoresced in man while only pyramidal cell staining was seen in this region of rat brain. The method should prove to be of value in the detection and tracing of narcotic drugs and may be helpful in investigations of drug tolerance and dependence.

An immunocytochemical study of type I muscle fibres in developing human skeletal muscles

An immunocytochemical study was done on the skeletal muscles of human fetuses (19-36 weeks gestation), infants and adults using a new monoclonal antibody (McAb) ALD-47. The antibody was generated against slow myosin of chicken and is specific for myosin heavy chain (MHC). In human infants and adults the type I muscle fibres are strongly reactive with this McAb and the type II fibres uniformly non-reactive. In the fetuses from 19-20 weeks gestation (in whom the fibre types are not distinguishable by the histochemical myosin ATPase test) a proportion of muscle fibres react specifically with ALD-47. Other muscle fibres at this stage react positively with a fast specific MHC McAb HM-1.2 or are negative to both ALD-47 and HM-1.2 antibodies. These McAbs, thus, identify three distinct fibre populations in the early fetal muscle which by histochemical staining appears homogeneous. The percentage of ALD-47 positive fibres increases in fetuses at later gestational periods; at all stages these fibres lack reactivity with the HM-1.2 antibody. Because of its selective fibre type reactivity in differentiating muscles, the McAb ALD-47 in conjunction with HM-1.2 should be useful in immunoaffinity fractionation and biochemical studies of myosin isoforms in developing human muscles.

Marginal Glioneuronal Heterotopias in Nine Cases With and Without Cortical Abnormalities

Nine cases of marginal glioneuronal heterotopias over the cerebral cortex were reviewed from the morphological point of view. There were developmental disabilities in all cases except one (case 8), who was stillborn. All subjects died before 1 year of age except one (case 5). The common features of small glioneuronal heterotopias and abundant heterotopic glioneuronal proliferation are described. The correlation of glioneuronal heterotopias with polymicrogyria and other cortical malformations, as well as their appearance over a normal cortex, are described. The glioneuronal heterotopias are considered to be a separate type of malformation that could arise during the second half of intrauterine life. A breach of the neuropial border seems to be the most acceptable pathomechanism for our presented cases. Their morphological features indicate that damage to this barrier leads to involvement of glioneuronal heterotopias in fusion of opposite cortical convolutions. (J Child Neurol 1986;1:149-157)