Presence of the AZF region in a female with an idic(Y)(q11)

In a child with some features of Turner's syndrome, gonosomal mosaicism with an isodicentric nonfluorescent (idic)Y chromosome was detected (mos 45,X/47,X,idic(Y)(q11),idic(Y)(11)/46,X,idic(Y)(q11)). Histopathological examination showed streak gonads with some evidence of ovarian stroma and no sign of gonadoblastoma. Polymerase chain reaction (PCR) analysis in blood lymphocytes and gonadal tissues using primers of seven loci along the Y chromosome, including the sex determined region (SRY), azoospermia factor region (AZF) and the deleted in azoospermia ( DAZ ) gene was positive for all loci tested, confirming the isodicentric character of the Y chromosome and indicating the presence of the AZF region. It is remarkable that the existence of spermatogenesis controlling genes does not play an important role in gonadal development and differentiation in a phenotypic female with some Turner stigmata. The data presented here are briefly discussed with previously-described patients.     

Segmental heterogeneity of swelling-induced Cl transport in rat small intestine

The effect of cell swelling induced by hypotonic media was studied in segments of rat small intestine. In the Ussing chamber, exposure to a hypotonic medium caused a decrease in short-circuit current (I _sc) and potential difference (V ^ms) in the jejunum, whereas the ileum responded with an increase in I _sc and V ^ms. The transition from one pattern to the other was located about in the middle of the small intestine. Tissue conductance decreased in both segments, probably due to a reduction of paracellular shunt conductance induced by the cell swelling. Voltage scanning experiments revealed that the observed decrease in total tissue conductance in the ileum was caused solely by a decrease in local conductance in the villus region while the crypt conductance did not change, suggesting that the decrease in paracellular conductance of the crypts is compensated by an increase in cellular conductance. The response in both segments was dependent on the presence of Cl⁻ and was blocked by the Cl⁻ channel blocker 5-nitro-2-(3-phenylpropylamino)-benzoate (NPPB). It was not affected by the neurotoxin tetrodotoxin. In the jejunum the swelling-induced decrease in I _sc was reduced in the presence of the cyclooxygenase inhibitor, indomethacin, or the lipoxygenase inhibitor, nordihydroguaiaretic acid. In the ileum the Cl⁻ secretion induced by hypotonicity was blocked by the K⁺ channel blocker quinine and was reversed into a decrease in I _sc when serosal Ca²⁺ was zero. We conclude that the observed volume regulatory changes are initiated in the jejunum by an eicosanoid-mediated opening of basolateral Cl⁻ channels and in the ileum by a Ca²⁺-mediated opening of K⁺ channels which enhances apical Cl⁻ efflux. Received: 27 June 1995/Received after revision: 8 December 1995/Accepted: 28 December 1995     

Der Glucoseverbrauch des menschlichen Gehirns unter dem Einfluß intravenöser Infusionen von Glucose,Glucagon und Glucose-Insulin

Zusammenfassung 1. Bei Kranken mit cerebraler Arteriosklerose findet sich eine Verminderung der Hirndurchblutung sowie der cerebralen Sauerstoff-und Glucoseutilisation. Die Glucoseaufnahme ist besonders stark reduziert, der Quotient aus Glucoseverbrauch: O₂-Verbrauch sowie der cerebrale RQ sind statistisch signifikant vermindert. Daraus läßt sich ableiten, daß als Folge einer gestörten Glucosepermeation oder -utilisation im Gehirn vermehrt Nicht-Kohlenhydrate verbrannt werden.2. Es wurde geprüft, ob durch Erhöhung des arteriellen Blutzuckers eine Verbesserung der Glucoseaufnahme im Gehirn zu erreichen sei. Die Hirndurchblutung wurde mit der Stickoxydulmethode vonKety undSchmidt bestimmt. Gleichzeitig erfolgten Analysen des cerebralen O₂- und Glucoseverbrauchs sowie der Abgabe von CO₂, Lactat und Pyruvat. Enzymatische substratspezifische Meßmethoden kamen zur Anwendung.3. Intravenöse Glucoseinfusionen von 60 ml 50%-iger Glucose hatten trotz eines Blutzuckeranstiegs von 96 auf 265 mg-% keinen statistisch signifikanten Einfluß auf Hirndurchblutung und cerebralen Stoffwechsel.4. Auch nach intravenösen Glucagoninjektionen von 20/kg war trotz Hyperglykämie eine Änderung der Hirnzirkulation, sowie der O₂- und Glucoseutilisation nicht erkennbar.5. In 23 Untersuchungen wurden intravenöse Infusionen von 60 ml 50%iger Glucose mit 24 E Insulin verabfolgt. In neun Messungen mit normalen Ausgangswerten stieg die cerebrale Glucoseaufnahme um 47%, von 5,62 auf 8,29 mg/100 g·min an. Die Hirndurchblutung, der cerebrale O₂-Verbrauch und RQ sowie die Abgabe von Lactat und Pyruvat blieben unverändert normal.Bei 14 Kranken mit cerebraler Arteriosklerose und stark verminderten Hirnstoffwechselwerten nahm bei unveränderter Durchblutung und O₂-Verbrauch die Glucoseaufnahme im Hirn um 84% zu: Die arteriohirnvenöse Glucosedifferenz stieg von 6,8 auf 12,2mg-%, die Glucoseaufnahme von 2,80 auf 5,11 mg/100 g·min. Mit dieser Normalisierung der Glucoseutilisationswerte ging eine statistisch gesicherte Normalisierung auch des Quotienten aus Glucoseverbrauch: Sauerstoffverbrauch sowie des zuvor erniedrigten cerebralen RQ einher.6. Aus den Ergebnissen wird gefolgert, daß das Insulin einen fördernden Einfluß auf die Glucosepermeation in die Ganglienzellen hat. Die vermehrt aufgenommene Glucose kann einer gesteigerten Synthese von Hirnglykogen und Aminosäuren dienen, und bei pathologischen Ausgangswerten zu einer Normalisierung des cerebralen Glucosestoffwechsels führen, erkennbar am Anstieg des cerebralen RQ von 0,88 auf 0,99.7. Die Bedeutung dieser Befunde für die Therapie wird diskutiert.

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Summary 1. In patients suffering from cerebral arteriosclerosis cerebral blood flow and cerebral utilization of oxygen and glucose are decreased. There is a marked reduction in cerebral uptake of glucose, and the quotient Q of glucose-uptake: oxygen consumption and the cerebral RQ are diminished significantly. From these observations it may be concluded that the cerebral metabolism of Non-Carbohydrates is increased as a consequence of disturbed permeation or utilization of glucose.2. We investigated whether an improved cerebral uptake of glucose could be achieved by elevating the level of arterial glucose. The cerebral blood flow was measured by the nitrous oxide method ofKety andSchmidt. Simultaneously the consumption of oxygen and glucose and the delivery of CO₂, lactate and pyruvate were analysed. The determinations were performed by enzymatic substrate-specific methods.3. Intravenous infusions of 60 ml 50% glucose influenced neither cerebral blood flow nor cerebral metabolism significantly, in spite of an elevated blood sugar level from 96 to 265 mg-%.4. A hyperglycemia induced by the intravenous injection of glucagon (20/kg) did not change cerebral blood flow or cerebral metabolism essentially.5. In 23 investigations an infusion of 60 ml 50% glucose and 24 U insulin was given intravenously.In 9 patients showing normal control values the cerebral uptake of glucose increased significantly from 5,62 to 8,29 mg/100 g · min (= 47%). Cerebral blood flow, cerebral oxygen consumption, cerebral RQ and the delivery of lactate and pyruvate remained within normal limits.In 14 patients with cerebral arteriosclerosis and markedlyreduced reduced values of cerebral metabolism the glucose consumption increased significantly by 84%: The arteriovenous difference of glucose rose from 6,8 to 12,2 mg-%, the cerebral uptake of glucose from 2,80 to 5,11 mg/100 g · min. Together with the normalization of the values of glucose utilization the quotient Q of glucose-uptake/oxygen-consumption rose from the previously decreased value of 1,06 to 1,82, and the cerebral RQ became normalized by a significant increase from 0,88 to 0,99.6. It is concluded from theses results that insulin has an improving effect upon the permeation of glucose into the brain cells. The augmented uptake of glucose may serve to an increased synthesis of cerebral glycogen and amino acids and may under pathological conditions restore normal cerebral glucose metabolism.7. The therapeutic implications of these findings are discussed.Die Untersuchungen wurden mit Unterstützung der Deutschen Forschungsgemeinschaft durchgeführt.

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Herrn Prof. Dr. Drs. h. c.K. H. Bauer zum 75. Geburtstag.     

Death or illness of a family member,violence, interpersonal conflict,and financial difficulties as predictors of sickness absence: longitudinal cohort study on psychological and behavioral links

OBJECTIVE: Although an association between stressful life events and health problems has been demonstrated, the underlying mechanisms have remained unclear. We examined whether psychological problems and health-risk behaviors underpin the health effects of different event categories. METHOD: The initially healthy participants were 2991 (796 men, 2195 women) municipal employees who had taken no sick leave in 1995. In 1997, they completed a questionnaire requesting information on recent life events and psychological and behavioral factors. The outcome was recorded sickness absences in 1998. RESULTS: In men, the death or serious illness of a family member, violence, and financial difficulties increased the risk of later sickness absence. According to structural equation modeling, violence and financial difficulties also induced psychological problems such as anxiety, mental distress, and lowered sense of coherence. Psychological problems were associated with heightened cigarette and alcohol consumption, which in turn increased sickness absence. A corresponding structural model did not fit the data in relation to death or serious illness of a family member. In women, life events were associated with psychological problems and smoking but not sickness absence. CONCLUSIONS: Longitudinal evidence suggests that increased psychological problems and behaviors involving risk to health partially mediate the effect of stressful life events on health, as indicated by sickness absence. This model received support among men and for the event categories of violence and financial difficulties. Women were less affected by stressful life events than men.     

Provider-patient relations and treatment choice in the era of fiscal incentives: the case of the end-stage renal disease program

Debates about the extent to which patients can and should participate in medical decision making take on new urgency as cost-containment efforts give patients more financial incentives. The Health Care Financing Administration's recent proposal to enable dialysis patients to "price shop" aroused consternation among nephrologists. A working seminar elucidated their fears about professional incomes and about increased patient autonomy.     

Parent Support Programmes for Families Who are Immigrants: A Scoping Review

Journal of Immigrant and Minority Health - Parental support is of paramount importance in the promotion of positive parenting, strengthening parenthood and protecting children from disadvantages...     

Risks and Complications After Arthroplasty for Pathological or Impending Pathological Fracture of the Hip

BackgroundTreatment options for metastatic osseous lesions of the proximal femur include hemiarthroplasty (HA) or total hip arthroplasty (THA) depending on lesion characteristics and patient demographics. Studies assessing short-term outcomes after HA/THA in this patient population are limited. Therefore, the purpose of this present study was to identify short-term rates of morbidity and mortality after HA/THA for pathological proximal femur fractures, as well as readmission and reoperation rates and reasons.MethodsThis study utilized a large, prospectively collected registry to identify patients who underwent HA/THA between 2011 and 2018. Patients were stratified by indication for surgery, including pathological fracture, nonpathological fracture, and osteoarthritis. Baseline patient characteristics and postoperative complications were compared using bivariate and/or multivariate analysis.ResultsIn total, 883 patients undergoing HA/THA for a pathological fracture were identified. Relative to an osteoarthritis cohort, these patients tended to be older, had a lower body mass index, and had significantly more preoperative comorbidities. These patients had high rates of total complications (13.93%), including thirty-day mortality (3.29%), unplanned return to the operating room (4.98%), and pulmonary complications (3.85%). Patients with pathological fracture had a longer operative duration relative to osteoarthritis and nonpathological cohorts (+27 and +25 minutes, respectively), despite having high rates of HAs performed.ConclusionPatients undergoing hip arthroplasty for pathologic proximal femur fracture have increased morbidity and mortality relative to an osteoarthritis cohort. However, patients with a pathological fracture have similar rates of morbidity and mortality when compared with a nonpathological fracture cohort, but did experience higher rates of perioperative blood transfusion and unplanned readmissions.Level of EvidenceIII.     

Imbalance between intraperitoneal coagulation and fibrinolysis during peritonitis of CAPD patients: the role of mesothelial cells

We compared peritoneal dialysis effluents from 18 CAPD patientswho had not suffered from peritonitis during the last 6 months(group 1) with the effluents from five patients with acute peritonitis(group 2), measuring activation markers of coagulation and fibrinolysis.These markers included prothrombin fragment F1+2 (F1+2), thrombin-antithrombinIII complex (TAT), fibrin monomer (FM), and fibrin degradationproducts (FbDP). In the dialysate of group 1 we found remarkablyhigh levels of F1+2, TAT and FM concomitant with a high concentrationof FbDP, indicating a high rate of intraperitoneal fibrin turnover.The balance between peritoneal generation and degradation offibrin was disturbed in untreated patients of group 2, who hadsignificantly higher levels of coagulation markers and a higherratio between FM and FbDP. Seven days after treatment with intraperitonealadministration of antibiotics and heparin, F1+2, TAT, FM andFbDP decreased significantly. To evaluate the role of mesothelial cells (MC) in the high peritonealfibrin turnover we investigated the expression of tissue-typeplasminogen activator (t-PA), urokinase-type plasminogen activator(u-PA), plasminogen activator inhibitor type-1 (PAI-1), andtissue factor in cultured human peritoneal MC under basal conditionsand after exposure to tumour necrosis factor (TNF) interleukin-1(IL-1), or bacterial lipopolysaccharide (LPS). The exposureof MC to TNF or to a lesser extent IL-1 or LPS reduced theirfibrinolytic activity by decreasing t-PA production and increasingPAI-1 synthesis. Furthermore the addition of TNF resulted inactivation of the coagulation cascade by the expression of tissuefactor. These in-vitro findings explain the imbalance betweenintraperitoneal coagulation and fibrinolysis during peritonitisof CAPD patients.     

Comparison of mortality in all patients on dialysis, patients on dialysis awaiting transplantation, and recipients of a first cadaveric transplant

BACKGROUND AND METHODS: The extent to which renal allotransplantation - as compared with long-term dialysis - improves survival among patients with end-stage renal disease is controversial, because those selected for transplantation may have a lower base-line risk of death. In an attempt to distinguish the effects of patient selection from those of transplantation itself, we conducted a longitudinal study of mortality in 228,552 patients who were receiving long-term dialysis for end-stage renal disease. Of these patients, 46,164 were placed on a waiting list for transplantation, 23,275 of whom received a first cadaveric transplant between 1991 and 1997. The relative risk of death and survival were assessed with time-dependent nonproportional-hazards analysis, with adjustment for age, race, sex, cause of end-stage renal disease, geographic region, time from first treatment for end-stage renal disease to placement on the waiting list, and year of initial placement on the list. RESULTS: Among the various subgroups, the standardized mortality ratio for the patients on dialysis who were awaiting transplantation (annual death rate, 6.3 per 100 patient-years) was 38 to 58 percent lower than that for all patients on dialysis (annual death rate, 16.1 per 100 patient-years). The relative risk of death during the first 2 weeks after transplantation was 2.8 times as high as that for patients on dialysis who had equal lengths of follow-up since placement on the waiting list, but at 18 months the risk was much lower (relative risk, 0.32; 95 percent confidence interval, 0.30 to 0.35; P<0.001). The likelihood of survival became equal in the two groups within 5 to 673 days after transplantation in all the subgroups of patients we examined. The long-term mortality rate was 48 to 82 percent lower among transplant recipients (annual death rate, 3.8 per 100 patient-years) than patients on the waiting list, with relatively larger benefits among patients who were 20 to 39 years old, white patients, and younger patients with diabetes. CONCLUSIONS: Among patients with end-stage renal disease, healthier patients are placed on the waiting list for transplantation, and long-term survival is better among those on the waiting list who eventually undergo transplantation.