scholarly journals Fatal Nemaline Myopathy in Infancy

1984 ◽  
Vol 11 (2) ◽  
pp. 305-309 ◽  
Author(s):  
Joseph B. McMenamin ◽  
Bernadette Curry ◽  
Glen P. Taylor ◽  
Laurence E. Becker ◽  
E. Gordon Murphy
Keyword(s):  
Respiratory Failure ◽  
Peripheral Nerves ◽  
Neonatal Period ◽  
Nemaline Myopathy ◽  
Clinical Findings ◽  
Neural Basis ◽  
Limb Muscles ◽  
The Central Nervous System ◽  
Severe Hypotonia ◽  
Clinical Stability

ABSTRACT:The clinical and neuropathological findings in two infants with congenital nemaline myopathy are described. One patient presented at birth with severe hypotonia, respiratory failure and contractures and died shortly after the neonatal period. The other presented at age two months with hypotonia and, following a period of clinical stability, died at age seven months from respiratory failure. Pathological findings in the fatal neonatal case revealed numerous rod bodies in lingual, pharyngeal, diaphragm and limb muscles, correlating with clinical findings. Significant, but less rod body involvement was found in the diaphragm and limb muscles of the second patient. Although a neural basis has been suggested for this disorder, no abnormalities were found in the central nervous system or in the peripheral nerves of these two severely affected patients.

scholarly journals Profound Hypotonia and Respiratory Failure due to Suspected Nemaline Myopathy in a Preterm Infant

2021 ◽  
Vol 11 (02) ◽  
pp. e91-e94
Author(s):  
Gloria Akuamoah-Boateng ◽  
Raymond C. Stetson ◽  
Bethany D. Kaemingk ◽  
David A. Bieber ◽  
Jane E. Brumbaugh
Keyword(s):  
Respiratory Failure ◽  
Respiratory Function ◽  
Neonatal Period ◽  
Clinical Course ◽  
Male Infant ◽  
Nemaline Myopathy ◽  
Preterm Newborn ◽  
Congenital Myopathies ◽  
Newborn Period ◽  
Whole Exome

AbstractCongenital myopathies, such as nemaline myopathy, may present with hypotonia and respiratory failure in the neonatal period. Respiratory function can be further compromised in affected infants by the development of chylous effusions. We present the case of a preterm male infant born at 326/7 weeks' gestation, who was profoundly hypotonic and required intubation at birth. His clinical course progressed from acute to chronic respiratory failure with mechanical ventilation dependence. He developed bilateral chylous pleural effusions during the newborn period. Whole exome sequencing identified an ACTA1 gene mutation leading to the presumed diagnosis of nemaline myopathy. This case highlights the need to include congenital myopathies in the differential for a preterm newborn with hypotonia and respiratory failure.

Evidence for a Blood Ganglion Barrier in the Superior Cervical Ganglion of the Rat

1982 ◽  
Vol 40 ◽  
pp. 204-204
Author(s):  
D. M. DePace
Keyword(s):  
Blood Vessels ◽  
Superior Cervical Ganglion ◽  
Peripheral Nerves ◽  
Time Schedule ◽  
Transmission Electron ◽  
Cervical Ganglion ◽  
The Central Nervous System ◽  
Cervical Ganglia ◽  
Capillary Circulation ◽  
And Control

The majority of blood vessels in the superior cervical ganglion possess a continuous endothelium with tight junctions. These same features have been associated with the blood brain barrier of the central nervous system and peripheral nerves. These vessels may perform a barrier function between the capillary circulation and the superior cervical ganglion. The permeability of the blood vessels in the superior cervical ganglion of the rat was tested by intravenous injection of horseradish peroxidase (HRP). Three experimental groups of four animals each were given intravenous HRP (Sigma Type II) in a dosage of.08 to.15 mg/gm body weight in.5 ml of.85% saline. The animals were sacrificed at five, ten or 15 minutes following administration of the tracer. Superior cervical ganglia were quickly removed and fixed by immersion in 2.5% glutaraldehyde in Sorenson's.1M phosphate buffer, pH 7.4. Three control animals received,5ml of saline without HRP. These were sacrificed on the same time schedule. Tissues from experimental and control animals were reacted for peroxidase activity and then processed for routine transmission electron microscopy.

scholarly journals Undetected Causes of Death in Hospitalized Elderly with COVID-19: Lessons from Autopsy

2021 ◽  
Vol 10 (7) ◽  
pp. 1337
Author(s):  
Astrid Malézieux-Picard ◽  
Cecilia Ferrer Soler ◽  
David De Macedo Ferreira ◽  
Emilie Gaud-Luethi ◽  
Christine Serratrice ◽  
...  
Keyword(s):  
Respiratory Failure ◽  
Causes Of Death ◽  
Clinical Findings ◽  
Pathological Examination ◽  
Post Mortem ◽  
Hypoxemic Respiratory Failure ◽  
Hospitalized Elderly ◽  
Acute Decompensation ◽  
Clinical Chart ◽  
Full Body

Background: Mechanisms and causes of death in older patients with SARS-CoV-2 infection are still poorly understood. Methods: We conducted in a retrospective monocentric study, a clinical chart review and post-mortem examination of patients aged 75 years and older hospitalized in acute care and positive for SARS-CoV-2. Full body autopsy and correlation with clinical findings and suspected causes of death were done. Results: Autopsies were performed in 12 patients (median age 85 years; median of 4 comorbidities, mainly hypertension and cardiovascular disease). All cases showed exudative or proliferative phases of alveolar damage and/or a pattern of organizing pneumonia. Causes of death were concordant in 6 cases (50%), and undetected diagnoses were found in 6. Five patients died from hypoxemic respiratory failure due to coronavirus disease 2019 (COVID-19), five had another associated diagnosis and two died from alternative causes. Deaths that occurred in the second week were related to SARS-CoV-2 pneumonia whereas those occurring earlier were related mainly to heart failure and those occurring later to complications. Conclusions: Although COVID-19 hypoxemic respiratory failure was the most common cause of death, post-mortem pathological examination revealed that acute decompensation from chronic comorbidities during the first week of COVID-19 and complications in the third week contributed to mortality.

scholarly journals STUDIES ON THE NERVOUS SYSTEM IN DEFICIENCY DISEASES

1934 ◽  
Vol 59 (1) ◽  
pp. 21-34 ◽  
Author(s):  
H. M. Zimmerman ◽  
Ethel Burack
Keyword(s):  
Nervous System ◽  
Peripheral Nerves ◽  
Progressive Disease ◽  
Water Soluble ◽  
Persistent Vomiting ◽  
Fiber Tracts ◽  
Heat Stable ◽  
Loss Of Weight ◽  
The Central Nervous System ◽  
Deficiency Diseases

Adult dogs maintained on an artificial, balanced ration adequate in all dietary essentials as far as is known except water-soluble, heat-stable vitamin B2 (G) developed, after a sufficient time, a slowly progressive disease characterized by loss of weight, persistent vomiting and diarrhea, and marked muscular weakness, which ended fatally in from 200 to over 300 days. The clinical features of this condition, as pointed out in the discussion, are quite different from those characterizing the canine disease known as black tongue. The anatomic changes in this condition consist of marked demyelination of the peripheral nerves, including the vagus; degeneration of the medullary sheaths and replacement by gliosis of the posterior columns of the spinal cord, particularly the fasciculi graciles; degeneration of the medullary sheaths of the posterior and less often of the anterior nerve roots of the cord; occasionally slight degenerative changes in most of the other fiber tracts of the cord. Attention is called to the fact that degenerative lesions in the central nervous system similar or identical with these have frequently been described in pellagra in man.

Nemaline Myopathy as a Cause of Sleep Hypoventilation

PEDIATRICS ◽  
1986 ◽  
Vol 77 (3) ◽  
pp. 390-395
Author(s):  
Ch. Maayan ◽  
C. Springer ◽  
Y. Armon ◽  
E. Bar-Yishay ◽  
V. Shapira ◽  
...  
Keyword(s):  
Mechanical Ventilation ◽  
Respiratory Failure ◽  
Ventilatory Response ◽  
Nemaline Myopathy ◽  
Cor Pulmonale ◽  
Systemic Hypertension ◽  
Older Patient ◽  
And Function ◽  
Ventilatory Response To Co2

Two siblings, a 14.5-year-old boy and his 11.5-year-old sister, with congenital nemaline myopathy presented with severe respiratory failure and, in the case of the older patient, with cor pulmonale and systemic hypertension. The children were treated initially by continuous mechanical ventilation, but after a few weeks they only required ventilation at night. At the start of treatment, both were found to have a decreased ventilatory response to CO2 which apparently improved during 4 to 5 years of follow-up treatment. It has not been possible to wean them from nocturnal mechanical ventilation, but during the daytime they attend school and function almost normally. It is postulated that respiratory failure in nemaline myopathy may not be related to the severity of the muscle weakness but may result from a disturbance of the feedback required for normal control of breathing.

Axon Regeneration in Peripheral Nerves

2021 ◽  
Author(s):  
Arthur English
Keyword(s):  
Nerve Injury ◽  
Peripheral Nerves ◽  
Axon Regeneration ◽  
Axon Growth ◽  
Injury Site ◽  
Genetic Manipulations ◽  
Novel Treatments ◽  
The Central Nervous System ◽  
Experimental Treatments ◽  
Axonal Protein

Despite the intrinsically greater capacity for axons to regenerate in injured peripheral nerves than after injury to the central nervous system, functional recovery after most nerve injuries is very poor. A need for novel treatments that will enhance axon regeneration and improve recovery is substantial. Several such experimental treatments have been studied, each based on part of the stereotypical cellular responses that follow a nerve injury. Genetic manipulations of Schwann cells that have transformed from a myelinating to a repair phenotype that either increase their production of axon growth-promoting molecules, decrease production of inhibitors, or both result in enhanced regeneration. Local or systemic application of these molecules or small molecule mimetics of them also will promote regeneration. The success of treatments that stimulate axonal protein synthesis at the site of the nerve injury and in the growing axons, an early and important response to axon injury, is significant, as is that of manipulations of the types of immune cells that migrate into the injury site or peripheral ganglia. Modifications of the extracellular matrix through which the regenerating axons course, including the stimulation of new blood vessel formation, promotes the navigation of nascent regenerating neurites past the injury site, resulting in greater axon regeneration. Experimental induction of expression of regeneration associated gene activity in the cell bodies of the injured neurons is especially useful when regenerating axons must regenerate over long distances to reinnervate targets. The consistently most effective experimental approach to improving axon regeneration in peripheral nerves has been to increase the activity of the injured neurons, either through electrical, optical, or chemogenetic stimulation or through exercise. These activity-dependent experimental therapies show greatest promise for translation to use in patients.

scholarly journals Superficial siderosis of the central nervous system is a rare and possibly underdiagnosed disorder

2017 ◽  
Vol 75 (2) ◽  
pp. 92-95 ◽  
Author(s):  
Yara Dadalti Fragoso ◽  
Tarso Adoni ◽  
Joseph Bruno Bidin Brooks ◽  
Sidney Gomes ◽  
Marcus Vinicius Magno Goncalves ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Disease Onset ◽  
Clinical Findings ◽  
Neurological Dysfunction ◽  
Superficial Siderosis ◽  
Blood Products ◽  
The Central Nervous System ◽  
Magnetic Resonance Imaging Mri ◽  
Intermittent Bleeding

ABSTRACT Superficial siderosis (SS) of the central nervous system (CNS) is a rare and possibly underdiagnosed disorder resulting from chronic or intermittent bleeding into the subarachnoid space, leading to deposition of blood products in the subpial layers of the meninges. Magnetic resonance imaging (MRI) shows a characteristic curvilinear pattern of hypointensity on its blood-sensitive sequences. Methods Series of cases collected from Brazilian centers. Results We studied 13 cases of patients presenting with progressive histories of neurological dysfunction caused by SS-CNS. The most frequent clinical findings in these patients were progressive gait ataxia, hearing loss, hyperreflexia and cognitive dysfunction. The diagnoses of SS-CNS were made seven months to 30 years after the disease onset. Conclusion SS-CNS is a rare disease that may remain undiagnosed for long periods. Awareness of this condition is essential for the clinician.

scholarly journals Respiratory Candida in Patients with Bronchitis, Mucus Plugging, and Atelectasis

2020 ◽  
Vol 14 (1) ◽  
pp. 87-92
Author(s):  
Douglas C. Johnson ◽  
Suresh K. Chirumamilla ◽  
Armando P. Paez
Keyword(s):  
Retrospective Study ◽  
Respiratory Failure ◽  
Clinical Findings ◽  
Clinical Parameters ◽  
Poor Outcome ◽  
Sputum Production ◽  
Uncertain Significance ◽  
Clinically Significant

Background: The significance of Candida in pulmonary secretions is unclear, and usually is regarded as colonization, not contributing to symptoms or disease. Yet, in our experience, Candida seemed associated with chronic sputum, mucus plugging, atelectasis, and poor outcome. Objective: The aim of this study is to describe the clinical findings of patients with Candida in pulmonary (sputum or bronchoscopy) secretions and the significance of Candida. Methods: Retrospective study of inpatients and outpatients referred for pulmonary consultation with Candida in pulmonary secretions. Clinical parameters and estimates of whether Candida was likely clinically significant, were determined. Results: 82 inpatients and 11 outpatients were identified, of which 61 (66%) had atelectasis and 68 (73%) bronchoscopies. Of patients having bronchoscopies, 56 (82%) had mucus, and 43 (63%) mucus plugging. Of the inpatients death (or probable death) occurred in 43 (63%), 42 (98%) of which were from definite or probable respiratory failure, with 13 (31%) likely related to mucus plugging, 16 (38%) possibly from mucus plugging, 6 (14%) unknown, and 7 (17%) not due to mucus plugging. Candida was felt likely clinically significant in 57 patients (61%), uncertain significance in 23 (25%), and not significant in 13 (14%). All outpatients had exacerbations, including 7 (64%) within a year. Conclusion: Patients requiring pulmonary consultation with Candida in pulmonary secretions often have chronic sputum production, exacerbations, mucus plugging, atelectasis, and death from respiratory failure. Candida was likely clinically significant in most patients. Recommendations to consider Candida in pulmonary secretions as colonization should be reconsidered.

Acute reversible toxic encephalopathy during capecitabine and oxaliplatin treatment

2017 ◽  
Vol 25 (2) ◽  
pp. 497-501 ◽  
Author(s):  
João Godinho ◽  
Mafalda Casa-Nova ◽  
Teresa Mesquita ◽  
Maria João Baptista ◽  
Francisco Araújo ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Clinical Findings ◽  
Neurological Dysfunction ◽  
Toxic Encephalopathy ◽  
Central Nervous System Toxicity ◽  
Cerebellar Dysfunction ◽  
Oxaliplatin Treatment ◽  
Tumor Involvement ◽  
The Central Nervous System

Introduction Capecitabine is a fluoropyrimidine commonly used in the treatment of colorectal cancer which may cause central nervous system toxicity, namely cerebellar dysfunction. Case report We describe a 77-year-old man undergoing adjuvant treatment of colon cancer with capecitabine and oxaliplatin who presented with acute cerebellar ataxia and encephalopathy that progressed to coma. Diagnosis of toxic encephalopathy was made after the exclusion of alternative causes of neurological dysfunction and complete resolution of clinical findings with permanent discontinuation of chemotherapy. Discussion When patients with cancer develop symptoms and signs of central nervous dysfunction, metabolic and infectious causes plus tumor involvement of central nervous system must be sought. However, chemotherapy may also cause toxicity to the central nervous system. Capecitabine is no exception, although cerebellar dysfunction is rarely reported. Conclusion Although rare, capecitabine-induced encephalopathy may be severe and physicians should be aware of this possible side effect.

CMV AND INFANTILE SPASMS

PEDIATRICS ◽  
1979 ◽  
Vol 63 (2) ◽  
pp. 285-285
Author(s):  
R. Riikonen
Keyword(s):  
Neonatal Period ◽  
Clinical Symptoms ◽  
Congenital Toxoplasmosis ◽  
Infantile Spasms ◽  
Early Years ◽  
Cmv Infection ◽  
Slow Virus ◽  
Congenital Cmv Infection ◽  
The Central Nervous System ◽  
Slow Virus Infection

At the Children's Hospital, University of Helsinki, 205 children with infantile spasms who were born between 1960 and 1976 were studied in a search for the factors responsible. In 11 children (5%) the infantile spasms were possibly associated with cytomegalovirus (CMV) infection. The number may actually have been considerably higher, as no systematic search was made for CMV, especially in the early years. In four of the 11 children, the infection was probably congenital, and was the most likely cause of the spasms. One of the remaining seven children had congenital toxoplasmosis and the simultaneous CMV infection was probably also congenital. The children with congenital CMV infection exhibited severe clinical symptoms in the neonatal period or in early infancy. Two frequent symptoms were persistent tremor and meningoencephalitis. Later, all five children were severely mentally retarded and had spastic tetraplegia and small heads; three of them had optic atrophy and were blind. In the other six children, the CMV infection was probably acquired, the clinical symptoms being less severe, and the spasms may have been caused by another factor. In two of the 11 cases, immunosuppressive therapy (ACTH treatment generally given for infantile spasms) seems to have caused a fulminant CMV infection. Two children with CMV infection still show signs of a slow virus infection in the central nervous system many years later.

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