Bloom syndrome does not always present with sun-sensitive facial erythema

Bloom syndrome is an autosomal recessive condition characterized by severe pre- and postnatal growth deficiency, immunodeficiency, an increased risk for malignancies, craniofacial dysmorphisms, and “typical” erythematous sun-sensitive skin lesions of the face. This facial rash has a butterfly-shaped distribution around the nose and is usually observed for the first time during the early years of life. Though reported as being a main feature of Bloom syndrome, there seems to be phenotypic variability regarding this facial skin rash among patients. It has been previously reported that in some individuals with Bloom syndrome these sun-sensitive lesions are less prominent or even absent. In this report we describe a 36 year old woman with short stature, microcephaly, several dysmorphisms, congenital hypothyroidism and premature ovarian failure. She was diagnosed with nasopharyngeal carcinoma at 36 years of age, only a few months after her consultation at the department of Clinical Genetics. Whole Exome Sequencing demonstrated that she had Bloom syndrome caused by a compound heterozygous mutation in BLM (c.2207_2212delinsTAGATTC; p.(Tyr736Leufs*5) and c.3681del; p.(Lys1227Asnfs*52)). She did not have facial sun-sensitive erythematous rash during childhood nor adulthood. We conclude that Bloom syndrome does not always present with erythematous sun-sensitive skin lesions of the face. We would like to underline that phenotypic variation regarding this “hallmark” feature of Bloom syndrome exists. Being aware of this might prevent a delay in diagnosing this rare short-stature syndrome and, subsequently, its potential clinical implications.     

克隆测序确认HLA新等位基因B*3712

目的：由于技术原理的限制，目前尚不能对所有的HLA等位基因进行严格的区分，特别是以往没有发现的新基因序列只能通过测序的方法解决，然而，当遇到等位基因杂合时，测序给出的结果仍然无法确认新的序列改变发生在等位基因的哪一侧，这时需要用分子生物学方法分离杂合子然后进行测序才能确定新的基因序列。采用基因克隆方法确认HLA新等位基因。 方法：实验于2006-01／05在河南省红十字血液中心HLA实验室，美国海军骨髓库HLA实验室完成。造血干细胞血样由中华骨髓库提供。采用荧光微珠HLA分型方法对中华骨髓库捐献者血样进行HLA分型检测，无法给出确切结果的摸棱两可结果标本用基因克隆（TOPO TA Cloning）、DNA测序的方法确认新的HLA基因序列。 结果：通过克隆分离杂合等位基因，再进行测序确认发现新的序列与B^＊3709相比，出现4个核苷酸改变：1．355nt C〉A，2．363nt C〉G，3．412nt G〉A，4．477ntC〉G，而且均发生在H哺B基因外显子3（exon3）。4处改变引起氨基酸编码改变：①编码95CTC〉ATC，氨基酸改变L〉1（亮氨酸〉异亮氨酸）。②97AGC〉AGG．S〉R（丝氨酸〉精氨酸）。③114GAC〉AACD〉N（天门冬氨酸〉天冬酰胺）。（9135GCC〉GCGA=A无氨基酸改变。 结论：①新的基因序列已经在GenBnak注册，被WHO的HLA因子命名委员会得到正式命名为HLA-B^＊3712基因。②基因克隆是确认HLA新基因的根本方法。     

The use of a recombinant immunoblot assay in the interpretation of anti- hepatitis C virus reactivity among prospectively followed patients, implicated donors, and random donors

Samples from prospectively followed recipients, their respective donors, and a cohort of random donors were used to evaluate the specificity and efficacy of a recombinant immunoblot assay (RIBA) as an adjunct to anti-hepatitis C virus (HCV) testing by enzyme immunoassay (EIA). RIBA reacted (RIBA+) in 100 percent of patients who developed hepatitis associated with anti-HCV seroconversion documented by EIA and in 100 percent of the EIA-positive (EIA+) donors implicated in these cases. In contrast, RIBA reacted in none of 10 recipients who were EIA+ but did not develop hepatitis, in none of 7 EIA+ patients with hepatitis B or cytomegalovirus infection, in 33 percent of EIA+ donors who were not implicated in hepatitis transmission, and in 37 percent of EIA+ random donors. Hence, the vast majority of EIA+ individuals who have ancillary evidence of HCV infection react on RIBA, whereas the majority of EIA+ individuals in low-risk settings do not react (RIBA-negative, or RIBA-). There was a strong association between RIBA reactivity and the presence of a surrogate marker (elevated alanine aminotransferase [ALT] and/or antibody to hepatitis B core antigen); 43 percent of RIBA+ implicated donors had a surrogate marker as compared to none of 14 EIA+, RIBA- donors. Among EIA+ random donors, 77 percent of those with a surrogate marker were RIBA+, as compared with 29 percent of those without a surrogate marker. In addition, in EIA+ donors, RIBA reactivity correlated with the extent of ALT elevation; 86 percent of those with an ALT greater than 135 IU per L were RIBA+ compared with 18 percent of those with an ALT less than 30 IU per L.(ABSTRACT TRUNCATED AT 250 WORDS)     

Correction for respiration artifact in pulmonary blood pressure signals of ventilated patients

Objective. To develop an algorithm that corrects pulmonary artery pressure signals of ventilated patients for the respiration artifact. The algorithm should test the validity of the pulmonary pressure signal and differentiate between the cyclic respiration artifact and true measurement artifacts.Methods. The shape of each pulmonary pressure beat is described by eight characteristic features, including mean pressure value and the systolic and diastolic timing and pressure values. The features are corrected for the respiration artifact by fitting them in a least-squares sense on the first and second harmonica of the ventilator frequency. The corrected features are used by a signal validation algorithm, which adds a validity flag to each pressure beat. The validation algorithm rejects pressure beats with sudden changes in their shape but adapts itself when the changes persist.Results. The performance of the correction and validation technique was evaluated using pulmonary artery pressure signals of 30 patients who were scheduled for open heart surgery. The algorithm correctly recognized as invalid data those pressure signals disturbed by coagulation, surgical manipulations, or flushes of the pressure line. The algorithm marked on average 77 ± 11 % of the pulmonary pressure beats as valid.Conclusions. The validation algorithm marked sufficient pressure beats as valid to update a trend display every 5 sec. The correction algorithm enabled the validation algorithm to differentiate between true measurement artifacts and the respiration artifact.     

Survival of massive allografts in segmental oncological bone defect reconstructions

Reconstructions of large segmental bone defects after resection of bone tumours with massive structural allografts have a high number of reported complications including fracture, infection and non-union. Our goal is to report the survival and complications of massive allografts in our patients. A total of 32 patients were evaluated for fracture, infection, non-union rate and survival of their massive allograft reconstructions. The average follow-up for this group was five years and three months. The total fracture rate was 13% with a total infection rate of 16%. We found a low union rate of 25%. The total survival of the allografts was 80.8% (± 18.7%) after five years. We found a five-year allograft survival of 80.8% which is comparable with other studies.

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Résumé  La reconstruction des larges pertes de substances osseuses après la résection des tumeurs osseuses par des allogreffes structurales est pourvoyeuse d’un pourcentage élevé de complications, telles que fractures, infections et pseudarthroses. Le but de notre étude est de rapporter la courbe de survie et les complications de ces allogreffes massives. 32 patients ont été évalués en terme de fractures, d’infections et de pseudarthroses, après mise en place d’allogreffes massives, le suivi moyen du groupe a été de 5 ans et 3 mois. le taux de fractures est de 13%, le taux d’infections de 16%. Nous avons trouvé un taux relativement bas de consolidation 25%. La survie de ces allogreffes, globalement est de 80,8% (± 18,7%) après 5 ans. le taux de survie de ces allogreffes à plus de 5 ans est de 80,8%, il est comparable aux autres études.

     

An evaluation of cardiac output by five arterial pulse contour techniques during cardiac surgery

The bias, precision and tracking ability of five different pulse contour methods were evaluated by simultaneous comparison of cardiac output values from the conventional thermodilution technique (COtd). The five different pulse contour methods included in this study were: Wesseling's method (cZ); the Modelflow method; the LiDCO system; the PiCCO system and a recently developed Hemac method. We studied 24 cardiac surgery patients undergoing uncomplicated coronary artery bypass grafting. In each patient, the first series of COtd was used to calibrate the five pulse contour methods. In all, 199 series of measurements were accepted by all methods and included in the study. COtd ranged from 2.14 to 7.55 l.min(-1), with a mean of 4.81 l.min(-1). Bland-Altman analysis showed the following bias and limits of agreement: cZ, 0.23 and - 0.80 to 1.26 l.min(-1); Modelflow, 0.00 and - 0.74 to 0.74 l.min(-1); LiDCO, - 0.17 and - 1.55 to 1.20 l.min(-1); PiCCO, 0.14 and - 1.60 to 1.89 l.min(-1); and Hemac, 0.06 and - 0.81 to 0.93 l.min(-1). Changes in cardiac output larger than 0.5 l.min(-1) (10%) were correctly followed by the Modelflow and the Hemac method in 96% of cases. In this group of subjects, without congestive heart failure, with normal heart rhythm and reasonable peripheral circulation, the best results in absolute values as well as in tracking changes in cardiac output were measured using the Modelflow and Hemac pulse contour methods, based on non-linear three-element Windkessel models.     

Translating a Multifactorial Fall Prevention Intervention into Practice: A Controlled Evaluation of a Fall Prevention Clinic

Although multifactorial fall prevention interventions have been shown to reduce falls and injurious falls, their translation into clinical settings has been limited. This article describes a hospital‐based fall prevention clinic established to increase availability of preventive care for falls. Outcomes for 43 adults aged 65 and older seen during the clinic's first 6 months of operation were compared with outcomes for 86 age‐, sex‐, and race‐matched controls; all persons included in analyses received primary care at the hospital's geriatrics clinic. Nonsignificant differences in falls, injurious falls, and fall‐related healthcare use according to study group in multivariate adjusted models were observed, probably because of the small, fixed sample size. The percentage experiencing any injurious falls during the follow‐up period was comparable for fall clinic visitors and controls (14% vs 13%), despite a dramatic difference at baseline (42% of clinic visitors vs 15% of controls). Fall‐related healthcare use was higher for clinic visitors during the baseline period (21%, vs 12% for controls) and decreased slightly (to 19%) during follow‐up; differences in fall‐related healthcare use according to study group from baseline to follow‐up were nonsignificant. These findings, although preliminary because of the small sample size and the baseline difference between the groups in fall rates, suggest that being seen in a fall prevention clinic may reduce injurious falls. Additional studies will be necessary to conclusively determine the effects of multifactorial fall risk assessment and management delivered by midlevel providers working in real‐world clinical practice settings on key outcomes, including injurious falls, downstream fall‐related healthcare use, and costs.