Primary Immunodeficiency Diseases in Latin America: The Second Report of the LAGID Registry

This is the second report on the continuing efforts of LAGID to increase the recognition and registration of patients with primary immunodeficiency diseases in 12 Latin American countries: Argentina, Brazil, Chile, Colombia, Costa Rica, Honduras, Mexico, Panama, Paraguay, Peru, Uruguay, and Venezuela. This report reveals that from a total of 3321 patients registered, the most common form of primary immunodeficiency disease was predominantly antibody deficiency (53.2%) with IgA deficiency reported as the most frequent phenotype. This category was followed by 22.6% other well-defined ID syndromes, 9.5% combined T- and B-cell inmunodeficiency, 8.6% phagocytic disorders, 3.3% diseases of immune dysregulation, and 2.8% complement deficiencies. All countries that participated in the first publication in 1998 reported an increase in registered primary immunodeficiency cases, ranging between 10 and 80%. A comparison of the estimated minimal incidence of X-linked agammaglobulinemia, chronic granulomatous disease, and severe combined immunodeficiency between the first report and the present one shows an increase in the reporting of these diseases in all countries. In this report, the estimated minimal incidence of chronic granulomatous disease was between 0.72 and 1.26 cases per 100,000 births in Argentina, Chile, Costa Rica, and Uruguay and the incidence of severe combined immunodeficiency was 1.28 and 3.79 per 100,000 births in Chile and Costa Rica, respectively. However, these diseases are underreported in other participating countries. In addition to a better diagnosis of primary immunodeficiency diseases, more work on improving the registration of patients by each participating country and by countries that have not yet joined LAGID is still needed. Latin American Group for Primary Immunodeficiency Diseases     

Pigmented Fungiform Papillae of the Tongue

Abstract: Pigmented fungiform papillae of the tongue is a benign condition characterized by localized hyperpigmentation confined to fungiform papillae. Although the condition is not rare and might be easily diagnosed in dark‐skinned adults and children, it is seldom mentioned in the medical literature. Here, we describe an 11‐year‐old boy presenting typical features of pigmented fungiform papillae of the tongue.     

Electrocardiographic Monitoring During Coloscopy

Electrocardiographic abnormalities were observed in 15 of 23 patients (65%), five with known heart disease, who were monitored for one hour prior to, during and for one hour after coloscopy. In one patient, ischemic S-T depression, 2 mm. below the resting level, persisted during the one hour following coloscopy. In all other patients, the electrocardiographic abnormalities disappeared before the end of the monitoring period.     

Eccrine Sweat Gland Involvement in GM1 Gangliosidosis

This report describes eccrine sweat gland involvement in a patient with GM₁ gangliosidosis. A striking vacuolization was noticed in cells of the acrosyringium and of the secretory coils. The diagnostic value of a skin biopsy in this condition is emphasized.     

A Special Outpatient Clinic for Following Patients with Implanted Tachyarrhythmia Devices

Implantable anti-tachycardia devices have become an additional therapeutic option for those patients afflicted with life-threatening tachyarrhythmias. Follow-up of these complex devices are time-consuming and, if mismanaged, may be dangerous to the patient. For these reasons, a special anti-tachycardia device clinic was started at Newark Beth Israel Medical Center in July 1984. From the inception of the clinic to September 1985, 24 patients were followed. Seventy-five percent had antitachycardia devices (ATDs) implanted for treatment of ventricular tachyarrhythmias (VT/VF) with the remaining 25% for supraventricular tachycardias. All patients were seen every 3 months or more often if clinically required. Of 112 clinic examinations, 102 (91%) were scheduled appointments (group I) while the remaining 10 visits (group II) were unscheduled and preceded by symptomatic episodes. The problems detected in clinic (groups I and II) ranged from sudden failure of an AICD to apprehension. Appropriate nonoperative treatment was given during clinic evaluation for 60% of the problems detected in group II, while the remaining 40% required eventual surgical intervention. Compliance throughout the 15-month follow-up period was 100%. Major benefits of the clinic cited by patients and their families were continuity of care, the time allotted to meet the individual needs, and management of most problems on an out-patient basis.     

Feto-Maternal Circulatory Changes Related to Placenta Morphology in Diabetes Mellitus

Combined real-time Doppler ultrasound blood flow measurements were carried out in 20 diabetic pregnant women in the third trimester. The placenta morphology was examined with emphasis on maturation, centrocotyledon hemorrhage, villous edema, and ischemia, ischemic villitis, infarction, perivillous fibrin deposition, thrombosis, and inflammatory changes of membranes and fetal placental vessels. Ten out of 17 cases with placenta pathology had normal blood flow measurements. Centrocotyledon hemorrhage (n = 8) was associated with a higher pulsatility index in the fetal aorta and development of fetal distress and obstetric intervention in labor. The higher number of hemorrhages, the greater the risk of intervention. The pulsatility index was normal in the umbilical artery. The uterine artery pulsatility index showed no correlation to the hemorrhages. Ischemic villitis and infarction were not found in any placenta, suggesting that there were no cases of advanced placental dysfunction. Placental immaturity, found in 11 cases, was not associated with any flow anomalies. Centrocotyledon hemorrhage seemed to be the earliest morphological abnormality affecting blood flow in the feto-maternal circulation in diabetic pregnancy. Centrocotyledon hemorrhage might be the first sign of placental microflow disturbance, possibly affecting fetal oxygenation, but not the total placental vascular bed resistance.     

Results of Delivered Therapy for VT or VF in Patients with Third-Generation Implantable Cardioverter Defibrillators

Third-generation implantable cardioverter defibrillators (ICDs) offer tiered therapy and can provide significant advantage in the management of patients with life-threatening arrhythmias. Three different types of ICDs were implanted in 21 patients with ventricular tachycardia (VT) or ventricular fibrillation (VF). Arrhythmia presentation was VT(76%), VF(10%), or both (14%). The mean left ventricular ejection fraction for the group was 32.4 ± 7%. No surgical mortality occurred. Prior to discharge individual EPS determined the final programmed settings of the ICDs. During a mean follow-up of 13 ± 1.4 months (range 2–20) the overall patient survival was 85.7%. No sudden arrhythmic or cardiac death occurred. Twenty of 21 patients (95%) received therapy by their device. In 14 patients (67%) antitachycardia pacing (A TP) was programmed "on," 13 of which was self-adaptative autodecremental mode. There were 247 VT episodes, 231 of which were subjected to ATP with 97% success and 3% acceleration or failure. Low energy shocks reverted all other VT episodes. VF episodes were successfully reverted by a single shock (93%), two shocks (6%), or three shocks (1 %). We conclude that ATP therapy of VT is successful in the large majority of episodes with rare failures, and that VF episodes are generally terminated by a single ICD shock.