Salt-losing syndrome in newborn infants with hyperaldosteronism. Presenting a sensitivity to mineralocorticoids. Pseudohypoaldosteronism

A case of salt-loosing syndrome in infancy with hyperaldosteronism is reported. This patient was given high doses of 9 alpha Fluorocortisol (0.1 mg/kg/24 h), together with salt supplements. This treatment corrected the abnormality, while higher doses of salt supplements without such large amounts of Flurocortisol were ineffective.     

Simpson-Golabi-Behmel syndrome. A new overgrowth syndrome with increased risk of tumor development

Simpson-Golabi-Behmel's syndrome is characterized by pre- and postnatal overgrowth, coarse face, visceromegali, congenital anomalies such as heart defects, diaphragmatic hernia and gastrointestinal malformations. Etiology is X-linked inheritance, the causative gene (GPC3) has recently been discovered. Female carriers may have mild symptoms. We report on an eight year old boy with characteristic anomalies and moderately retarded psychomotor development. Differentiating Simpson-Golabi-Behmel's syndrome and other overgrowth syndromes, such as Beckwith-Wiedemann's and Sotos' syndrome can be difficult. Clinical overlap and differences between these three conditions are discussed. The diagnosis of Simpson-Golabi-Behmel's syndrome is important because of increased risk for cardiac arrhytmias and for development of embryonal tumors such as neuroblastoma and Wilms' tumor in early childhood.     

Hyperplasia of the aorticopulmonary paraganglia: a new insight into the pathogenesis of sudden infant death syndrome?

OBJECTIVE: To study the effect of using an Intensive Care Information System (ICIS) on severity scores and prognostic indices: Acute Physiology and Chronic Health Evaluation II (APACHE II), Simplified Acute Physiology Score II (SAPS II), and Mortality Probability Models II (MPM II). DESIGN: Prospective pilot study. SETTING: A 20-bed medical-surgical intensive care unit (ICU) in a teaching hospital. PATIENTS: 50 consecutive adult patients admitted to the ICU on a bed equipped with an ICIS. INTERVENTIONS: None. MEASUREMENTS AND RESULTS: In each patient all the physiologic variables, as required by the severity scores, were both manually charted and recorded by ICIS. ICIS registration resulted in the extraction of more abnormal values for all physiologic variables (except temperature): p < 0.05. Higher severity scores and mortality prediction were achieved by using ICIS charting: predicted mortality increased by 15% for APACHE II compared to manual charting, 25% for SAPS II, and 24% for MPM0. ICIS charting resulted in higher severity scores and mortality prediction for 29 of the 50 patients using APACHE II with a mean increase in mortality prediction in this subgroup of 27%. In the case of SAPS II, ICIS charting resulted in higher scores in 23 of the 50 patients and in the case of MPM0 in 13 patients, the mean increase in mortality in these subgroups being 64 and 148%, respectively. CONCLUSIONS: The use of ICIS charting to acquire the most abnormal physiologic values for severity scores and the derived prognostic indices results in a higher mortality prediction. Comparison of groups of patients and/or ICUs based on severity scores is impossible without standardization of data collection. The mortality prediction models have to be revalidated for the use of ICIS charting. While awaiting this, we suggest that every patient record in local regional, national, or international ICU databases should be marked as being recorded by manual or by ICIS charting.     

A new perspective on the Oedipal complex: A voice therapy session.

Presents clinical material using voice therapy, to elicit, identify, and counteract negative thought patterns. The case of a 38-yr-old man, who experienced suicidal impulses in competitive situations, illustrates the concept of "identification with the aggressor" in relation to a father's angry, rivalrous feelings toward his son. The author discusses the dynamics operating in families where immature or insecure parents compete with and show resentment toward the child of the same sex and direct overt or covert aggression toward him/her. Later, the internalized aggression emerges as a negative thought process when the individual strives to achieve personal or vocational goals. An exploration of the theoretical implications of the case contributes to an understanding of unresolved Oedipal issues that can affect young people at risk for suicide, particularly high-achieving adolescents who seemingly have everything to live for. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

So-called juxtaglomerular benign tumor of the kidney with renin secretion. Optical and ultrastructural study]

Benign renin secreting tumors of the kidney, of which the authors report a new case, are an uncommon cause of arterial hypertension. The lesion is unique, benign, richly vascularized and constituted by epithelioid cells similar to those seen in the normal juxta-glomerular apparatus. Noteworthy and of great diagnostic value is the massive infiltration of the tumoral tissue by mastocytes. The ultrastructural examination clearly shows the differentiation of the secretory cells from the smooth muscular fibresof the vessel walls. The other types of renin secreting tumours are briefly considered.     

Chronic fatigue syndrome: A new clinical application.

Chronic fatigue syndrome (CFS), a poorly understood illness of uncertain etiology, has received scant attention in the psychological literature. This article reviews the CFS research literature from a clinical perspective, presents explanatory models of the illness, and describes cognitive–behavioral interventions for CFS. Finally, case management issues that are based on the author's research and clinical observations are discussed. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Signs of depth and danger. 1962

A large proportion of the serious complications that occur during pediatric anesthesia are caused by failure to recognize early signs of danger. The greatest dangers include excessive anesthetic depth, respiratory obstruction and depression, acid-base derangement, shock, myocardial depression, and extreme alterations in body temperature. Simple monitoring devices, including the anesthetic chart, stethoscope, blood pressure cuff, and thermometer, are essential in all major pediatric procedures. Use of the stethoscope should never be omitted in any case. Signs of cardiorespiratory and neuromuscular activity characteristic of infants and children should be familiar to all anesthetists who engage in pediatric work.     

Report of the Executive Officer: 1962.

Major responsibilities of the Executive Officer are considered. "This year, concern has been forcibly expressed regarding the impact and side effects of our program of accreditation on our academic training centers." There is also concern evidenced regarding the private practice of psychology, the role of psychologist under major health and medical policies, and activities at the state level toward licensing and legislative inactments. The science, professional affairs, state societies, and national organizations continue to grow effectively. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

The Antley-Bixler syndrome. A new case without radiohumeral synostosis

Myelodysplastic syndrome (MDS) is a hematological disorder that occurs primarily in the elderly as an acquired, sporadic disease. Familial cases of MDS are rare. We have identified a kindred with three affected individuals, with early age of onset, suggesting a possible inherited predisposition to this disease. Using a molecular genetic approach, we examined whether bands 5q31 or 7q22 or both, the chromosomal regions most frequently associated with sporadic MDS, are involved in familial expression of MDS in this pedigree. Linkage analysis using polymorphic microsatellite DNA markers demonstrated that neither 5q31 nor 7q22 cosegregated with MDS in this family. There was no history of common environmental or occupational exposure among family members with MDS. In addition, analysis of polymorphisms at two loci [glutathione S-transferase T1 and M1 (GSTT1 and GSTM1)] involved in carcinogen detoxification and associated with cancer susceptibility, including increased risk for MDS, showed no evidence for enhanced sensitivity to environmental carcinogens in affected family members. Taken together, our findings suggest that (1) there is an inherited predisposition to MDS in this kindred; and (2) genes at 5q31 and 7q22, the regions most commonly associated with sporadic MDS, are excluded from a causal role in this family's disease.     

A juxtaglomerular cell tumor. Analysis of immunohistochemistry, electron microscopy and in situ hybridization

We investigated the prognosis of completely resected 119 non-small cell lung cancer patients according to the invaded organs. There was no significant difference in prognosis between T3N0M0 and T3N1M0 patients (5-year survival rate: 34% vs. 38%). However, the prognosis of T3N2M0 patients (5-year survival rate: 11%) was too poor to be regarded as the same category. Therefore, we investigated only T3N0M0 and T3N1M0 patients to assess the contribution of the invaded organs to prognosis. Of the 5 patients with diaphragm invasion, there was no 3-year survivor, and the prognosis of patients with diaphragm invasion was very poor. The chest wall invasion was divided into three parts: parietal pleural invasion, subpleural tissue invasion and intercostal muscular invasion. The 5-year survival rates of patients with such invasion was 35%, 29% and 27%, respectively. The patients with Pancoast tumor had very poor prognosis. T3 factor was heterogeneous, and the prognosis of the patients with T3 tumor was various according to invaded organs.     

A new account of sundown syndrome

In this study, the authors tested the hypothesis that residents requiring nursing care rather than residential care in a dual registered nursing and residential home would experience increased levels of confusion and agitation as the evening drew in. This article describes how the hypothesis was examined and the action that was taken as a result.     

Natal teeth and steatocystoma multiplex complicated by hidradenitis suppurativa. A new syndrome

A new syndrome, consisting of natal or defective teeth, or both, steatocystomas of the skin, and epidermal cysts of the scalp, is described in several generations. One member of the family had eruptive molars. Male-to-male transmission suggests autosomal dominant inheritance. This syndrome should be separated from pachyonychia congenita I and II.     

Diffuse lamellar keratitis. A new syndrome in lamellar refractive surgery

PURPOSE: Alpha2-adrenergic agonists have specific and selective effects on the retina to induce expression of basic fibroblast growth factor and to protect photoreceptors. This work explores the signaling pathway that mediates these effects. METHODS: Alpha2-adrenergic agonists xylazine and clonidine were administered systemically to male adult Sprague-Dawley rats. The activation state of extracellular signal-regulated kinases (ERKs) in the retina was assessed by immunoblot analysis, using antibodies that specifically recognize the dually phosphorylated forms of p44/p42 ERKs. Localization of phosphorylated ERKs was determined by immunocytochemistry. RESULTS: Intramuscular injection of 6 mg/kg xylazine induced an increase in ERK phosphorylation in the retina within 30 minutes that lasted 3 hours. Xylazine induced ERK phosphorylation at 1 mg/kg and reached a maximum at 10 mg/kg. Injection of clonidine also induced ERK phosphorylation in the retina. Yohimbine, a specific alpha2-adrenergic antagonist, completely prevented the induction of ERK phosphorylation. Immunocytochemical studies showed that the increase in ERK phosphorylation occurred mainly in Müller cells. In the brain, xylazine injection resulted in a decrease in ERK phosphorylation. CONCLUSIONS: Our results indicate that systemically administered alpha2-adrenergic agonists selectively activate ERKs in retinal Müller cells. The induced activation of ERKs in Müller cells is probably one of the early events that result in photoreceptor protection. These results also indicate that Müller cells are unique in response to alpha2-adrenergic agonists and imply a role for Müller cells in alpha2-adrenergic agonist-induced photoreceptor protection.     

Familial cryptogenic fibrosing pleuritis with Fanconi's syndrome (renal tubular acidosis). A new syndrome

We describe two siblings with a progressive unrelenting and unique syndrome of bilateral fibrosing pleuritis of unknown cause occurring in association with Fanconi's syndrome (renal tubular acidosis). The parents of the siblings were second cousins. Both siblings had identical pleural histologic characteristics and identical urinary metabolic defects. This condition resulted in the development of severe respiratory failure in both patients and ultimately the death of the older sibling at the age of 21 years.     

Primary and idiopathic hyperaldosteronism. Course 1 year after operation. Apropos of 28 cases

The course of mean arterial pressure was compared in two series concerning 18 primary or tumoral hyperaldosteronism and 8 idiopathic ones. Identification of the nature of the hyperaldosteronism should not yet motivate a decision on principle, surgical in case of tumor, medical in an idiopathic case. In the latter case cooperation and tolerance of medical treatment, severity of hypertension also come into consideration. A positive spirolactone test, a hypertension course of less than six years were in our experience a good indication of successful surgery, as opposed to a normal unilateral renal biopsy. In case of operation, the removal protocol should adapt to the peroperative findings; 80% adrenalectomy is the most common procedure, except in the case of isolated adenoma of more than 10 mm diameter.     

A new DNA-binding motif in the Skn-1 binding domain-DNA complex

The role of ifosfamide as first-line chemotherapy treatment of non metastatic Ewing's sarcoma of the extremity is still under discussion. The purpose of this paper is to report the results achieved in a neoadjuvant protocol (REN-3) in which ifosfamide, added to the conventional VACA regimen, was employed since the induction phase. Induction chemotherapy consisted of vincristine, cyclophosphamide, doxorubicin, actinomycin-D and ifosfamide. After local treatment, patients received the drugs used in the induction phase and etoposide. Between November 1991 and November 1994, 61 patients with non metastatic Ewing's sarcoma of the extremity were treated. Forty-nine patients underwent surgery and 73.5% of them had a good histologic response. At a median follow-up of 60 months (range 32-76), 48 patients (79%) remained continuously disease-free. The 5-year event-free and overall survival were 77% and 87%, respectively. These results were significantly better both in terms of histologic response or event-free and overall survival than those obtained in 58 patients with non metastatic Ewing's sarcoma of the extremity treated in a previous protocol (REN-2) in which the same drugs were used, but ifosfamide was employed only in the maintenance phase. The present study suggests the importance of early use of ifosfamide in the treatment of patients with non metastatic Ewing's sarcoma of the extremity.