Mucopolysaccharidosis VII (beta-glucuronidase deficiency) presenting as nonimmune hydrops fetalis.
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Biomedical subjects
Publications and source records attributed to A Nelson.
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The morphologic, cytochemical, and ultrastructural pathology of the blood and bone marrow of an infant with Mucopolysaccharidosis Type VII (MPS VII) is reported. The neutrophils, monocytes, basophils, and eosinophils contained prominent granulation of the Alder-Reilly type. The lymphocytes, plasma cells, osteoblasts, and macrophages contained cytoplasmic inclusions surrounded by clear vacuoles. Cytochemically, the granulocytes, monocytes, and lymphocytes were negative for beta-glucuronidase, negative or weakly metachromatic with toluidine blue, and positive for acid phosphatase. Macrophages were negative with toluidine blue. A normal staining pattern was present with myeloperoxidase and periodic acid-Schiff (PAS). Ultrastructural studies showed abnormal vacuoles in neutrophils, basophils, eosinophils, monocytes, lymphocytes, plasma cells, and macrophages. Occasional vacuoles contained Ruthenium Red positive material and confirmed the presence of acid mucopolysaccharide in these cells. This report confirms previously described abnormalities in peripheral blood cells in MPS VII, demonstrates additional abnormalities in bone marrow, and reports cytochemical reactions in leukocytes in MPS VII.
Perforation of the esophagus or pharynx may occur during placement of endotracheal or nasogastric tubes in the newborn infant. Controversy exists, however, whether medical or surgical therapy is better in the management of these perforations. Nine patients who had esophageal or pharyngeal perforation in the neonatal period and were treated medically with antibiotics, nutritional support, and closed chest-tube drainage of pneumothoraces are described. All perforations healed without surgical repair. No mortality or morbidity occurred secondary to these perforations. This study, together with a review of the 73 patients described in the literature, indicate that perforations of the pharynx and esophagus can be satisfactorily managed medically. There is no apparent advantage to routine early surgical exploration. Only complications such as mediastinitis and mediastinal mass formation seem to require surgical treatment. Medical therapy with close observation for signs of sepsis and/or mediastinal changes will enable most newborn infants to avoid an operation and will identify those infants for whom surgery is definitely indicated.
Allergic rhinitis patients were challenged with intranasal allergen aerosols after pretreatment with hydroxyzine and phenylpropanolamine, singly and in combination. Hydroxyzine protected against itching, sneezing and hypersecretion but aggravated obstruction. Phenylpropanolamine had a subtle but measurable anti-congestive effect. This model quantitates and confirms the complementary effects of combined antihistamine-decongestant therapy.
A patient with liver abscess in association with regional enteritis is reported. Liver abscess should be suspected in patients with regional enteritis who present with fever, elevated serum alkaline phosphatase, liver tenderness, right upper quadrant pain or hepatomegaly.
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Orgone (Reichian) therapy, which utilizes a unique physical approach in addition to standard character-analysis, is illustrated in cases of muscle contraction (tension) headache. It offers a more direct technique for attacking the muscular tension (somatic armor) while undermining the psychic defenses.
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