Establishment of erythropoiesis following bone marrow transplantation in a patient with congenital hypoplastic anemia (Diamond-Blackfan syndrome)

Marrow transplantation was attempted in a 13-yr-old boy with congenital hypoplastic anemia who had never responded to corticosteroid therapy. Prior to the transplant, he had received 238 transfusions, at least 12 of which were from his father. He was prepared for grafting with antilymphocyte globulin, procarbazine, and total body irradiation (1000 rads). The patient, whose red cells were Group B, then received marrow cells from his Group O, histocompatible, sister. Thereafter, reticulocytes, Group O erythrocytes, and female leukocytes appeared in the peripheral blood. Erythroid precursors were seen in the patient's marrow for the first time in his life, and all lacked fluorescent Y chromosomes. Dividing cells were all female. After initially progressing well, the patient developed interstitial pneumonia and died 55 days after the transplant. The successful erythroid graft suggested that this patient's failure to produce red blood cells was due to a defective stem cell rather than to a humoral defect, plasma inhibitor, or abnormal marrow microenvironment. It suggested further that sibling marrow may be engrafted in patients who have received multiple transfusions, even from a parent.     

Massive Cerebral Edema Associated with Fulminant Hepatic Failure in Acetaminophen Overdose

Cerebral edema may complicate the course of fulminant hepatic failure. Response to conventional therapy has been disappointing. We present a patient with fatal acetaminophen-induced fulminant hepatic failure, with signs and symptoms of cerebral edema, unresponsive to conventional medical therapy. Cranial decompression was carried out. A justification of the need for further evaluation of cranial decompression in such patients is presented.     

Electrodiagnostic features of true neurogenic thoracic outlet syndrome

Introduction: We report the electrodiagnostic (EDX) features of 32 patients with surgically verified true neurogenic thoracic outlet syndrome (TN‐TOS). Methods: Retrospective record review. Results: We found uniform EDX evidence of a chronic axon loss process that affected the lower portion of the brachial plexus and disproportionately involved the T1 more than the C8 sensory and motor fibers. Because of this relationship, the medial antebrachial cutaneous sensory nerve (T1) and median motor (T1 > C8) study combination was abnormal in 89%, whereas response combinations that primarily assessed the C8 fibers were less frequently affected. Conclusions: The characteristic EDX features of TN‐TOS are T1 > C8 nerve fiber involvement. A comprehensive EDX examination of the lower plexus with contralateral comparison studies is imperative to diagnose this disorder accurately. Muscle Nerve 49 : 724–727, 2014     

Effect of Propranolol on Ventricular Rate During Atrial Fibrillation in the Wolff-Parkinson-White Syndrome

Atrial fibrillation was induced during an electrophysiology study in 10 patients with the Wolff-Parkinson-White (WPW) syndrome, after determination of baseline properties of the accessory atrioventricular (AV) connection; intravenous propranolol (0.2 mg/kg) was then administered. Atrial fibrillation terminated during the drug infusion in three patients, allowing determination of propranolol's effects on conduction and refractoriness during sinus rhythm, before atrial fibrillation was reinduced. In these three patients propranolol had no effect on refractoriness or conduction properties of the accessory AV connection during sinus rhythm. The mean ventricular rate during atrial fibrillation was slowed by 15–56 beats/min in six patients, had no effect on the mean rate in three patients, and markedly increased the ventricular rate (203 to 267 beats/min) in one patient. In this patient, 54% of QRS complexes during atrial fibrillation were narrow, compared to 0–25% in the other patients. Propranolol reduced the percentage of QRS complexes that were narrow from 13 ± 16% to 1 ± 2% (mean ± standard deviation, p < 0.05). We conclude that propranolol may slow the ventricular rate during atrial fibrillation in some patients with the WPW syndrome, probably by blockcing the effects of adrenergic activation. However, propranolol should not be used in patients with the WPW syndrome who have atrial fibrillation, if most QRS complexes during atrial fibrillation are preexcited. When a large percentage of QHS complexes are narrow, propranolol may increase the ventricular rate, probably by eliminating concealed retrograde conduction in the accessory AV connection.     

MR imaging of the scrotum: normal anatomy

High-resolution magnetic resonance (MR) imaging with a surface coil was utilized to evaluate the normal scrotum. Scrotal contents, spermatic canal, and inguinal regions were visualized within the same field of view. Differences in signal intensity in the testis, epididymis, tunica albuginea, fluid, fat, and spermatic cord allowed for clear delineation of these structures in detail. The high contrast and spatial resolution of MR imaging, coupled with the wide field of view and absence of ionizing radiation, make MR imaging well suited for evaluation of the scrotum.     

Strangulation in child abuse: CT diagnosis

The central nervous system is commonly affected in child abuse. Between April 1985 and July 1986 three infants were identified in whom the primary mode of injury had been strangulation. In each case computed tomography (CT) demonstrated a large cerebral infarction confined to vascular territories associated with small subdural hematomas. There was no history or visible evidence of significant head trauma. Autopsy of one infant confirmed the presence of a hemispheric infarct, thin subdural hematoma, and an area of subintimal hemorrhage in the carotid artery ipsilateral to the infarct. The remaining two patients survived with residual hemiparesis. CT findings of a large cerebral infarction with an associated subdural hematoma in an infant without a history of a significant trauma should suggest the possibility of child abuse and may be the primary manifestation of abuse in some patients.     

Use of CO2 to move structures as an aid to percutaneous procedures

By injecting small amounts of CO2 through a needle, one can move bowel or bladder from the intended path of instruments during interventional procedures. The technique worked well in six of seven cases in the pelvis and retroperitoneum; it was not effective in the mediastinum or midabdomen (n = 6).     

Recombination aneusomy of chromosome 5 associated with multiple severe congenital malformations

A male infant is described in whom congenital anomalies were recognized prenatally by ultrasound examination. The infant was delivered following spontaneous labor and died approximately 15 min after birth. An autopsy revealed major anomalies in the central nervous system (holoprosencephaly with premaxillary agenesis), the gastrointestinal system (esophageal atresia) and the heart (tetralogy of Fallot). Chromosomal studies revealed recombinant chromosome 5 [46,XY, rec(5), dup q, inv(5)(p15q32)], resulting in partial trisomy 5q and partial monosomy 5p. Cytogenetic investigation of the family revealed a pericentric inversion of chromosome 5 in the father and paternal grandmother, 46,XY (and XX, respectively,) inv(5)(p15q32). The congenital anomalies in this infant are more extensive and severe than previously reported in cases of recombination aneusomy involving chromosome 5.