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Biomedical subjects

N Gadoth

Publications and source records attributed to N Gadoth.

At least 163 records · Page 9Linked to original sources

Neuropathic form of arthrogryposis multiplex congenita. Report of 3 cases with complete necropsy, including the first reported case of agenesis of muscle spindles.

In 3 infants with arthrogryposis multiplex congenital (AMC) complete necropsy, including removal of the entire spinal cord, was performed. Histologically, spinal type (neurogenic) atrophy of skeletal muscles in conjunction with spinal motor neurone depletion, unaccompanied by noticeable gliosis, were the most preminent features common to all cases. In addition to these, one infant (Case 1) showed total absence of muscle spindles as evident from the examination of several hundred step-serial paraffin sections covering 11 different levels in 36 samples taken from a wide range of skeletal muscles of both upper and lower extremities. This is believed to be the first published case of agenesis of muscle spindles.

Arthrogryposis↗

Myopathy with multiple central cores. A case with hypersensitivity to pyrexia.

An eight-year-old male suffered from long-standing proximal muscle weakness, dramatically aggravated by febrile episodes. Neuromuscular work-up disclosed a myopathy with multiple central cores of non-familial nature. The presence of central cores in this patient as well as in the myopathy of malignant hyperpyrexia might suggest a pathophysiological basis common to both conditions.

Child↗

Haemorrhagic infarction of the myocardium in a newborn with haemoglobin H disease and erythroblastosis.

Extensive haemorrhagic myocardial infarction developed in a newborn, apparently as a result of anoxia due to erythroblastosis fetalis, associated with haemoglobin H disease. Acute massive myocardial infarction in the neonatal period is rare and usually is associated with congenital malformation of the heart or its blood supply. Neonatal myocardial infarction in the anatomically normal heart with normal coronary vessels, has been described in only 8 patients (1). The communication describes a newborn with acute haemorrhagic myocardial infarction due to anoxia believed to be caused by the combined effect of erythroblastosis fetalis and haemoglobin H disease.

Erythroblastosis, Fetal↗

A homologous tandem translocation [45,XX,-13,-13,+t(13;13) (q12;q34)].

Chromosomal investigation of a young girl with mental and motor retardation and congenital anomalies revealed a translocation between both members of pair No. 13. Banding analysis showed that the translocation was "tandem," leading to monosomy for segments in both the long and short arms of No. 13.

Abnormalities, Multiple↗

Traumatic vertebrobasilar occlusive disease in childhood.

Vigorous gymnastics and repeated manipulations of the cervical spine by a chiropractor were associated with headaches and transient cranial nerve deficits in a 7-year-old boy who had a history of birth trauma. Progressive cerebellar dysfunction was later accompanied by a visual field defect. A computerized axial tomography scan revealed a cerebellar infarction, and arteriograms showed vertebral and basilar occlusions. Passive stretching of the cervical spine during chiropractic maneuvers may lead to vertebral artery thrombosis with subsequent embolization into the basilar artery circulation.

Athletic Injuries↗

Kearns-Sayre syndrome. A review of a multisystem disorder of children and young adults.

The syndrome of a slowly progressive external ophthalmoplegia, pigment retinopathy, and disorder of cardiac conduction was described by Kearns and Sayre in 1958. In patients with this triad, other neurological deficits may occur with associated abnormalities of the electrocardiogram, electroencephalogram, audiogram, and an elevation of protein in cerebrospinal fluid. The onset of a potentially lethal cardiac dysrhythmia in a patient with this slowly progressive degeneration of the nervous system can be anticipated and prevented by the use of an artivicial cardiac pacemaker.

Adolescent↗

Diencephalic syndrome revisited.

This report details the histories of five patients with clinical diencephalic syndrome who collectively demonstrate the variability found in the syndrome with respect to: (1) clinical course, (2) site of the tumor, and (3) ease of obtaining radiologic confirmation of the presence of a tumor. A review of an additional 67 patients indicates that the observations are not unique. The anatomic variability combined with the fact that the course of those who are treated is infinitely better than those left untreated adds urgency to the establishment of precise anatomic diagnosis. These considerations led to a critical review of the histories of the 72 patients. From this it can be stated that anteriorly and posteriorly placed tumors do exhibit subtle but significant differences in their clinical course, and roentgenograms of the optic foramina and analysis of the CSF cell and protein content appear warranted early in the investigation of emaciation from unknown cause. Further, an evaluation is made of the role of various radiologic techniques and of endocrine studies in establishing the diagnosis. Similarly, the relative merits of radiotherapy and/or surgery in the treatment of the disease are defined. Finally, the adequacy of the term diencephalic syndrome is discussed.

Astrocytoma↗

Bone marrow in the Batten-Vogt syndrome.

Six children with clinical and pathological features of Batten-Vogt syndrome showed autofluorescent material in bone marrow cells and in 5 of them sea-blue histiocytes were seen. It is suggested that bone marrow examination for sea-blue histiocytes and autofluorescenceis a useful screening test for ceroid-lipofuscinosis.

Bone Marrow↗