Dysmorphic facial features in aspartylglucosaminuria patients and carriers

The facial photos of 76 aspartylglucosaminuria (AGU) patients, 29 obligate carriers and 78 unrelated controls were evaluated for dysmorphic features to see whether this autosomal recessive lysosomal storage disease includes a dysmorphic facial gestalt in addition to the well-known age-related coarsening of the facies and whether the carrier status of AGU might have an effect on the facial features. A consistent dysmorphic gestalt with hypertelorism, a short and broad nose with round nares, simple often small ears with small or missing lobule and modest folding of helices, thick lips and a square shape of face, was found to be present long before the coarsening begins. Recognition of this pattern of facial features might help in the early diagnosis of AGU. Statistically, puffy eyelids were found to be significantly more frequent in AGU carriers than in controls. These findings support an earlier implication that AGU carrier status might have a slight influence on the phenotype.     

The anti-inflammatory effect of diazoxide in coronary artery bypass grafting

Many therapeutic strategies have been designed to suppress the inflammatory response in patients undergoing coronary artery bypass grafting (CABG). Pharmacological preconditioning with diazoxide is an alternative in effective cardioprotective strategies, but more evidence is required to show its effect on the inflammatory response. Forty patients with stable angina who were scheduled for isolated elective CABG operations were randomized into control and diazoxide (DZX) groups. In the DZX group, 1.5 mg/kg diazoxide was infused intravenously in 5 min followed by a 5-min washout before commencing the cardiopulmonary bypass. In the control group, placebo infusion was given similarly. Blood samples for cytokine measurement were collected from the radial artery and coronary sinus perioperatively, and hemodynamic data were recorded. Thirty-six patients fulfilled the data collection. Cardiac index (CI) increased in both groups over time as compared with baseline. In the DZX group, the increase of CI was greater than that in the control group (P = 0.002). Systemic and coronary sinus plasma levels of IL-6, IL-8, and IL-10 increased significantly after reperfusion in both groups as compared with baseline (P < 0.05). IL-6 and IL-8 both reached the peak value at 6 h after cardiopulmonary bypass. IL-10 reached peak level at 20 min after reperfusion in both groups. There was significantly higher IL-10 in DZX groups (P = 0.015). The ratios of IL-6 to IL-10 and IL-8 to IL-10 were significantly lower in DZX groups than in controls (P = 0.025 and P = 0.041 for each, respectively). Pharmacological preconditioning with DZX in CABG patients shifts the circulating inflammatory cytokine balance toward the anti-inflammatory direction.     

Functional comparison between uncemented Austin-Moore hemiarthroplasty and osteosynthesis with three screws in displaced femoral neck fractures—a matched-pair study of 168 patients

There is no consensus as to whether osteosynthesis (OS) or hemiarthroplasty (HA) should be used as the primary treatment of displaced femoral-neck fracture. In a prospective matched-pair study, we compared 84 patients treated with OS with three screws and 84 patients treated with uncemented Austin-Moore HA focusing on functional parameters, reoperations and mortality. At 4 months after the fracture, functional recovery was not significantly different between the study groups. However, OS patients tended to have slightly better functional ability than HA patients, as more of them were able to walk out of doors (45.2% versus 39.2%), more were able to walk without walking aids (23.7% versus 16.7%), and more returned to live in their own homes (80%versus 72.9%). OS patients used slightly but not significantly less painkillers and had less hip pain than HA patients. OS patients had had 15.4% more reoperations by 4 months and 14.2% more by 1 year compared to the HA group. The 4-month and 1-year mortality rates of the study groups were of the same order. Functional recovery was slightly better after OS with three screws than after uncemented HA, although no significant differences were seen in a sample of this size. On the other hand, OS was associated with a higher reoperation rate.

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Résumé Il ny a aucun consensus sur le traitement initial de la fracture déplacée du col fémoral entre ostéosynthèse (OS) ou hémiarthroplastie (HA). Dans une étude prospective appariée avec focalisation sur les paramètres fonctionnels, les réinterventions et la mortalité, nous avons comparé 84 malades traités par OS avec trois vis et 84 malades traités par HA de type Austin Moore non cimentée. Quatre mois après la fracture, la récupération fonctionnelle nétait pas significativement différente entre les deux groupes de létude. Cependant, les malades OS avaient tendance à avoir une meilleure fonction que les malades HA, avec une meilleure possibilité de marche à lextérieur (45,2% contre 39,2%), de marche sans aide (23,7% contre 16,7%), et plus de retour à domicile (80% contre 7,9%). Les malades OS utilisaient, mais de façon non significative, moins dantalgiques que les malades HA et avaient moins de douleurs de hanche. Les malades OS avaient 15,4% de plus de ré-opérations à 4 mois et 14,2% dans lannée, comparés au groupe HA. Le taux de mortalité à quatre mois et à un an était du même ordre dans les deux groupes. La récupération fonctionnelle est légèrement meilleure après OS avec trois vis quaprès HA non cimenté, bien quaucune différence significative nait été relevée dans cet échantillon. En revanche, OS est associé à un taux supérieur de réinterventions.

     

Ultrasonographic and power Doppler evaluation of the patellar tendon ten years after harvesting its central third for reconstruction of the anterior cruciate ligament: comparison of patients without or with anterior knee pain

BACKGROUND: The long-term morphologic changes in the patellar tendon after harvesting its central third for the reconstruction of the anterior cruciate ligament have not been reported. HYPOTHESIS: Sonographic morphologic changes in the harvested patellar tendon are common 10 years after the harvesting procedure. STUDY DESIGN: Retrospective cohort study. METHODS: Thirty-one patients who had undergone an anterior cruciate ligament reconstruction using central-third bone-patellar tendon-bone autograft with a closure of the patellar tendon defect were included in this study. An ultrasonographic and Power Doppler examination was performed at a mean follow-up of 10 years. RESULTS: Ultrasonography of the harvested patellar tendon showed intratendinous calcification in 9 patients, hypoechoic lesion in 20 patients, hyperechoic lesion in 1 patient, and peritendinous changes in 1 patient. Only 3 (9.7%) of the 31 patients had no changes in the harvested patellar tendon. No abnormality was visible in the contralateral (normal) patellar tendons of the 31 patients. The harvested patellar tendon was significantly thicker than the contralateral patellar tendon (P < 0.05). CONCLUSIONS: Sonographic morphologic changes of the patellar tendon were common 10 years after the harvesting procedure, although no evidence of inflammatory process, as could be seen in Power Doppler flow, was found inside of any patellar tendon.     

Growth hormone selectively improves intestinal cholesterol absorption after jejunoileal autotransplantation in pigs

Background/Purpose

Small bowel transplantation impairs enteric function and causes malabsorption of cholesterol and bile acids. Growth hormone stimulates intestinal absorptive function. The authors hypothesized that long-term growth hormone therapy could improve absorption of bile acids and cholesterol after autotransplantation of the jejunoileum.

Methods

Sixteen pigs with similar food, cholesterol, and fat intake underwent either sham laparotomy or a model of jejunoileal autotransplantation, including extrinsic autonomic denervation, lymphatic interruption, and in situ cold ischemia. Five randomly chosen autotransplanted animals received daily growth hormone treatment for 8 weeks. Serum lipids, absorption, and excretion of cholesterol, bile acids, and fat were determined after 8 weeks. Mucosal morphometrics, proliferation, and enzyme activities were determined. Plasma cholesterol precursors and plant sterols, respective markers of cholesterol synthesis and absorption, were measured after 2 and 8 weeks.

Results

After jejunoileal autotransplantation, growth hormone treatment significantly increased body weight gain, cholesterol absorption efficiency from 45.1% to 62.1%, plasma campesterol to cholesterol proportions, and biliary secretion of cholesterol. With or without growth hormone treatment, autotransplantation significantly increased fecal bile acid excretion, plasma cholesterol precursors, fecal bacterially modified neutral sterols, mucosal thickness of the ileum (but not jejunum), and intestinal transit time when compared with sham-operated animals. Crypt cell proliferation, mucosal enzyme activities, and microvilli showed no differences between the groups.

Conclusions

These findings suggest that growth hormone treatment selectively improves cholesterol, but not bile acid absorption, after autotransplantation of the jejunoileum.     

Recovery of shoulder joint function after humeral shaft fracture: a comparative study between antegrade intramedullary nailing and plate fixation.

Introduction Antegrade intramedullary (IM) nailing of humeral shaft fractures is reported to cause shoulder joint impairment. This retrospective study compared shoulder joint symptoms, range of motion (ROM), and isometric strength after antegrade IM nailing and dynamic compression (DC) plating of humeral shaft fractures.Materials and methods We compared 29 patients with DC plating and 44 with antegrade IM nailing of their humeral shaft fractures. Shoulder pain, LInsalata and Constant scores, shoulder joint ROM and isometric shoulder strengths were measured after mean follow-up of 6.2 (1–15) years (DC plating) and 5.5 (2–10) years (IM nailing).Results Patients had nonsignificantly more shoulder pain after IM nailing than after DC plating. Shoulder scores and isometric strength measurements showed no difference between the groups. Flexion was significantly better after DC plating, but none of the other ROM parameters differed between the groups. The shoulder scores and all ROM and strength parameters of the injured side were significantly lower than on the uninjured side in both groups.Conclusions Shoulder joint ROM and strength does not recover to normal after humeral shaft fracture. Antegrade IM nailing if performed properly is not responsible for shoulder joint impairment.     

A cross-platform model for secure Electronic Health Record communication

During the past decade, there have been many regional, national and European projects focused on the development of platforms for secure access and sharing of distributed patient information. A platform is needed because present local or enterprise-wide information systems are typically not intended for cross-organisational secure access of patient data. Most of the present secure platforms are local or regional. Commonly used platform types in the health care environment vary from secure point-to-point communication systems to internet-based portals. This paper defines an enhanced cross-security platform which makes it possible for different kinds of local, regional, and national health information systems to communicate in a secure way. The proposed evolutionary way interconnects regional or national security domains with the help of a cross-platform zone. A more revolutionary model based on peer-to-peer Grid like networks and dynamic security credentials is also discussed. The proposed evolutionary model uses cross-domain security and interoperability services to ensure secure communication and interoperability between different security domains. The platform supports both communication defined beforehand and adhoc dynamic access to distributed electronic health records (EHRs). The internet is proposed as the "glue" between different regional or national security domains.     

Cerebrospinal fluid insulin-like growth factor (IGF-1) and insulin-like growth factor binding protein (IGFBP-2) in children with acute lymphoblastic leukemia

BACKGROUND: Insulin-like growth factor-1 (IGF-1) has specific effects on axonal growth and myelination, low CSF IGF-1 levels being found in some severe neurologic diseases. We studied the levels of CSF IGF-1 and IGF binding protein-2 (IGFBP-2) in children with ALL to find out whether these levels correlated with any of the neurological deficits observed. METHODS: IGF-1 and IGFBP-2 levels were prospectively measured by radioimmunoassay in the CSF of 14 children with ALL throughout the ALL chemotherapy. These were compared with the levels of 16 control subjects and of patient groups with severe neurological diseases. RESULTS: During induction, the children with ALL had subnormal CSF IGF-1 levels which improved after 2 months. In seven individuals, two with severe vincristine polyneuropathy, the subnormal levels persisted throughout the chemotherapy. CONCLUSIONS: Our findings suggest impairment of the IGF-1 trophic system during induction by a mechanism so far unknown. Correlation with disturbed neuronal function could not be statistically proven.     

A comparison of socio-economic differences in long-term sickness absence in a Japanese cohort and a British cohort of employed men

OBJECTIVES: To compare the magnitude of socio-economic differences in sickness absence rates between a Japanese cohort and a British cohort. To assess the effects of self-rated health and behavioural risk factors on sickness absence in the two cohorts, and whether they explain socio-economic differences in sickness absence within and between cohorts. METHODS: An 8 year follow up study of sickness absence in 2504 Japanese male employees in a factory in Japan and 6290 British male employees in civil service departments in London. The rates of first occurrences of long-term (>7 calendar days) sickness absence were determined and compared between these cohorts. Socio-economic status was measured with hierarchical employment grades. RESULTS: The first time sickness absence rates were about two times higher among British men as compared with Japanese men. The rate ratio of lower to higher employment grade was 1.2, 1.3 and 2.1 among Japanese white-collar, Japanese blue-collar and British white-collar employees respectively. Baseline self-rated health and smoking habit predicted sickness absence in both cohorts. After adjusting for these factors a significant difference between the Japanese and British cohorts, and between employment grades remained. CONCLUSIONS: The rate of long-term sickness absence was higher in the British cohort than the Japanese cohort.     

Increased deep sleep in a medication-free,detoxified female offender with schizophrenia,alcoholism and a history of attempted homicide: Case report

Background  

Psychiatric sleep research has attempted to identify diagnostically sensitive and specific sleep patterns associated with particular disorders. Both schizophrenia and alcoholism are typically characterized by a severe sleep disturbance associated with decreased amounts of slow wave sleep, the physiologically significant, refreshing part of the sleep. Antisocial behaviour with severe aggression, on the contrary, has been reported to associate with increased deep sleep reflecting either specific brain pathology or a delay in the normal development of sleep patterns. The authors are not aware of previous sleep studies in patients with both schizophrenia and antisocial personality disorder.