Characteristics of recovery of adrenocortical function after treatment for Cushing's syndrome due to pituitary or adrenal adenomas

OBJECTIVE: Surgical cure of Cushing's syndrome (CS) is followed by adrenocortical insufficiency, which may be long-lasting. The aim was to elucidate recovery of adrenocortical function, defined as a normal cortisol response to ACTH stimulation, and the relation to ACTH in patients cured for CS due to pituitary Cushing's disease (CD) or adrenal (AA) adenomas. DESIGN: A retrospective study including 32 patients considered surgically cured for CS (18 CD, 14 AA). RESULTS: Twelve (67%) patients with CD recovered within median 24 months (range 7 months-4(1)/(2) years) whereas six did not recover within 3-12 years. Plasma ACTH (p-ACTH) at time of recovery was not different from p-ACTH in patients not recovering (P = 0.9). Eleven (79%) patients with AA recovered within 24 months (10 months-4 years) whereas three did not recover within 4-10 years. p-ACTH at time of recovery was higher compared to patients not recovering (P < 0.04). No differences were observed comparing CD and AA patients concerning preoperative 24-h urinary free cortisol (UFC) excretion, postoperative unstimulated s-cortisol or recovery time. By contrast, p-ACTH measured at time of recovery was higher in AA compared to CD (median 12.3 vs. 4.6 pmol/l) (P < 0.001), whereas plasma dehydroepiandrosterone sulfate (p-DHEAS) was lower in AA compared to CD (median 300 vs. 1500 nmol/l) (P = 0.02). CONCLUSION: Recovery of secondary adrenal insufficiency is a slow process in both CD and AA. ACTH measured at time of recovery was significantly higher and DHEAS significantly lower in patients with AA compared to CD, which may suggest different mechanisms of the recovery process and different set points in the glucocorticoid feedback inhibition of ACTH secretion.     

Variations in helminth faecal egg counts in Kato-Katz thick smears and their implications in assessing infection status with Schistosoma mansoni

Examination of stool specimens by Kato-Katz (K-K) thick smears is the standard method recommended by the WHO for field diagnosis of intestinal schistosomiasis. However, there is increasing concern that this technique has low diagnostic sensitivity. In 326 study subjects, we compared the diagnostic yield of examining one, three or five Kato-Katz thick smears prepared from one stool specimen using 41.7 mg templates. In a subset of 169 subjects who had no demonstrable Schistosoma mansoni eggs in their first three Kato-Katz thick smears, we assessed the comparative advantage of examining an additional three Kato-Katz thick smears from another stool specimen, taken four weeks later, to that of cumulative yield obtained by examining all five Kato-Katz thick smears derived from the first stool specimen. For all helminth infections, single Kato-Katz thick smear-based prevalence estimates were significantly lower than those obtained from triplet or quintet Kato-Katz thick smears. Prevalence of S. mansoni infection based on single, triplet and quintet Kato-Katz thick smears from one stool specimen were 31.3%, 45.7% and 52.1%, respectively. Prevalence estimate of S. mansoni based on quintet Kato-Katz thick smears from the first day stool specimens was not different from cumulative estimate obtained with two triplet Kato-Katz thick smears from two stool specimens, 52.1% and 52.8%, respectively. In conclusion, either examination of quintet Kato-Katz thick smears from one stool specimen using 41.7 mg template or initial triplet Kato-Katz thick smears from one stool specimen, and if these are negative, followed by examination of additional triplet Kato-Katz thick smears from subsequent day stool specimen can adequately assess individuals for infection status with S. mansoni.     

Fatigue in patients with systemic lupus erythematosus: the psychosocial aspects

OBJECTIVE: Studies to prove a relationship between fatigue and immunological, inflammatory, or other disease characteristics of systemic lupus erythematosus (SLE) have shown no consistent findings. To further elucidate the basis for fatigue in SLE, we examined the affective states, personality traits, and mental health status in an unselected group of patients with SLE. METHODS: Fifty-seven Caucasian patients with SLE were examined. Fatigue was measured by the Fatigue Severity Scale. Personality traits and psychological function were evaluated by the Minnesota Multiphasic Personality Inventory-2 (MMPI-2), the affective states by Beck Depression Inventory, and mental health status by the General Health Questionnaire version 30 (GHQ-30). RESULTS: Fatigue was closely associated with high scores on subscales Depression (D-2) and Hysteria (Hy-3) on MMPI-2 (R2 = 0.31; p = 0.0002), as well as with high scores on BDI (R2 = 0.22; p = 0.0006) and GHQ (R2 = 0.33; p < 0.0001). CONCLUSION: Fatigue does not seem to be caused by any easily recognizable single or multiple factor(s) of an inflammatory or immunological state. Our results point to fatigue being a multifaceted phenomenon where several psychosocial factors are strongly related, and indicate that fatigue is part of a complex response to chronic disease.     

De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females

Recent studies revealed the power of whole-exome sequencing to identify mutations in sporadic cases with non-syndromic intellectual disability. We now identified de novo missense variants in NAA10 in two unrelated individuals, a boy and a girl, with severe global developmental delay but without any major dysmorphism by trio whole-exome sequencing. Both de novo variants were predicted to be deleterious, and we excluded other variants in this gene. This X-linked gene encodes N-alpha-acetyltransferase 10, the catalytic subunit of the NatA complex involved in multiple cellular processes. A single hypomorphic missense variant p.(Ser37Pro) was previously associated with Ogden syndrome in eight affected males from two different families. This rare disorder is characterized by a highly recognizable phenotype, global developmental delay and results in death during infancy. In an attempt to explain the discrepant phenotype, we used in vitro N-terminal acetylation assays which suggested that the severity of the phenotype correlates with the remaining catalytic activity. The variant in the Ogden syndrome patients exhibited a lower activity than the one seen in the boy with intellectual disability, while the variant in the girl was the most severe exhibiting only residual activity in the acetylation assays used. We propose that N-terminal acetyltransferase deficiency is clinically heterogeneous with the overall catalytic activity determining the phenotypic severity.     

The Fit for Delivery study: rationale for the recommendations and test‐retest reliability of a dietary score measuring adherence to 10 specific recommendations for prevention of excessive weight gain during pregnancy

Aiming at preventing excessive weight gain during pregnancy, 10 specific dietary recommendations are given to pregnant women in the intervention arm of the Norwegian Fit for Delivery (FFD) study. This paper presents the rationale and test‐retest reliability of the food frequency questionnaire (FFQ) and a dietary score measuring adherence to the recommendations. The study is part of the ongoing FFD study, a randomised, controlled, intervention study in nulliparous pregnant women. A 43‐item FFQ was developed for the FFD study. A dietary score was constructed from 10 subscales corresponding to the 10 dietary recommendations. Adding the subscales yielded a score from 0 to 10 with increasing score indicating healthier dietary behaviour. The score was divided into tertiles, grouping participants into low, medium and high adherence to the dietary recommendations. Pregnant women attending ultrasound screening at about week 19 of pregnancy were asked to complete the FFQ twice, 2 weeks apart. Of 154 pregnant women completing the first questionnaire, 106 (69%) completed the form on both occasions and was included in the study. The test‐retest correlations of the score and subscales were r = 0.68 and r = 0.56–0.84, respectively (both P ≤ 0.001). There was 68% test‐retest correct classification of the score and 70–87% of the subscales. In conclusion, acceptable test‐retest reliability of the FFQ and the dietary score was found. The score will be used in the FFD study to measure adherence to the dietary recommendations throughout pregnancy and in the following year post‐partum.     

Fate of the rectum after colectomy and ileostomy for Crohn's colitis

Eighty-four patients had colectomy with ileostomy and oversewing of the rectum for Crohn's colitis. Seventy-two patients were operated on because of intractable disease, colitis in combination with rectal fistulas, and toxic megacolon. The operative mortality was 6 percent, and neither emergency surgery nor treatment with steroids correlated with operative morbidity. After a median 7.7 years of follow-up, 25 ileorectal anastomoses had been undertaken, 16 of which were successful. Twenty-nine proctectomies were performed; the resulting 10-year cumulative risk of proctectomy was 50 percent. While the risk of proctectomy was significantly less among patients with a normal rectum at colectomy compared with patients with proctitis, the initial macroscopic degree of proctitis did not correlate with the risk of subsequent proctectomy. The 5-year cumulative ileal resection rate in 29 patients with a rectum in situ but out of circuit was 29 percent. The possibility of a future ileorectal anastomosis should still be considered in patients with proctocolitis.     

Screening for risk of violence using service users’ self‐perceptions: A prospective study from an acute mental health unit

Service users’ self‐perception of risk has rarely been emphasized in violence risk assessments. A recent review pointed to the importance of a multidisciplinary approach, because different perspectives may provide a deeper and improved understanding of risk assessment. The aim of this study was to investigate service users’ perceptions of their own risk of committing violence, using a self‐report risk scale, to determine the feasibility and efficacy of this potential violence risk marker during acute mental health hospitalization. All service users admitted to a psychiatric emergency hospital in Norway during one calendar year were included (N = 512). Nearly 80% self‐reported no risk or low risk; only seven (1.4%) reported moderate risk or high risk. Service users who reported moderate risk, high risk, don't know, or won't answer were more likely to be violent (OR = 4.65, 95% CI = 2.79–7.74) compared with those who reported no risk or low risk. There was a significant gender interaction with higher OR for women on both univariate and multivariate analyses. Although the OR was higher for women, women's violence rate (11.0%) was almost half that of men (21.8%). For women, sensitivity and specificity were 0.55 and 0.88, respectively; corresponding values for men were 0.40 and 0.80. Inclusion of self‐perception of violence risk is the first step towards service users’ collaborative involvement in violence prediction; these results indicate that self‐perception can contribute to violence risk assessments in acute mental health settings. Findings also indicate that there are gender differences in these assessments.     

纳米炭吸附多西紫杉醇在乳腺癌区域淋巴化疗中的临床研究

目的：探讨纳米炭吸附多西紫杉醇（TAX-CNP）淋巴化疗药物的靶向性、合理注射时间及短期疗效。方法淋巴靶向化疗试验组（A 组）：注射1 mL 多西紫杉醇（TAX）加1 mL 纳米炭（CNP）,平均分4个小组（A1～4组）,术前 TAX-CNP 分别在12、24、36及48 h 行淋巴靶向化疗后再行手术;外周静脉化疗对照组（B 组）：静脉输注含1 mL TAX 的0．9％氯化钠溶液100 mL,平均分4个小组（B1～4组）,根据上述相同的时间点经外周静脉输注相同剂量的 TAX。术毕取腋窝淋巴结,用高效液相色谱仪检测两组患者淋巴结 TAX 的含量;将两组患者有癌转移的淋巴结行原位末端标记法（TUNEL）及流式细胞仪检测细胞凋亡情况。结果（1）A 组淋巴结 TAX 含量明显高于 B 组（P ＜0．05）;（2）A1组细胞凋亡指数（AI）及凋亡率均明显低于 A2、A3、A4组（P ＜0．05）,A2、A3、A4组细胞 AI 及凋亡率比较差异均无统计学意义（P ＞0．05）;（3）A 组细胞 AI 及凋亡率均明显高于 B 组（P ＜0．05）。结论TAX-CNP 可以显著提高淋巴结的药物浓度,具有较好的淋巴靶向性;术前24 h 注射系较为理想的注射时间;TAX-CNP 可以明显提高转移淋巴结细胞凋亡的发生,降低短期复发率。     

A qualitative study of clinical reasoning in physiotherapy with preterm infants and their parents: Action and interaction

Background: Physiotherapists (PTs) in primary health care provide services to preterm infants and their parents after hospital discharge. The service should be collaborative and individualized to meet the family’s needs. In this study, we analyze pediatric PTs’ collaborative work in the clinical setting and investigate the PTs’ emerging clinical reasoning (CR) in interaction with the infant and parent(s).

Methods: The study is based on observations of 20 physical therapy sessions and 20 interviews with PTs. We performed a systematic content analysis informed by enactive theory regarding the interactions and co-creation of meaning.

Results and Discussion: CR emerged in reciprocity with the PTs’ interaction with the infant and parent(s). Based on the sensitivity to the infant’s motor abilities and signs of engagement as well as the parents’ need of support and education, the PTs individualized and reasoned about their therapeutic approach. This interactional CR was vulnerable: infant disengagement, parent expectations, and PT preoccupations could obfuscate interactions and hamper CR.

Conclusion: Through mutuality and engagement with the infant and parent(s), the PTs allow the autonomy of interaction to emerge and shape the translation of CR into successful therapeutic actions and learning together with the infant and parent(s).