bluuebunny/crossref_metadata_2025 huggingface dataset:
Circulating Cell-Free DNA to Determine the Fetal RHD Status in All Three Trimesters of Pregnancy
Authors: Moise Kenneth J. , Gandhi Manisha , Boring Noemi H. , O'Shaughnessy Richard , Simpson Lynn L. , Wolfe Honor M. , Baxter Jason K. , Polzin William , Eddleman Keith A. , Hassan Sonia S. , Skupski Daniel W. , Ryan Greg , Walker Martin , Lam Garrett , Brown Richard , Skoll M. Amanda , Robinson Christopher , Sheikh Asad , Bronsteen Richard , Plante Lauren A. , McLennan Graham , Chikova Anna , Paladino Toni
Published: November 2016

OBJECTIVE:

To estimate the accuracy of a new assay to determine the fetal RHD status using circulating cell-free DNA.

METHODS:

This was a prospective, observational study. Maternal blood samples were collected in each trimester of pregnancy in 520 nonalloimmunized RhD-negative patients. Plasma samples were analyzed for circulating cell-free DNA using the SensiGENE RHD test, which used primers for exons 4 and 7 as previously described and incorporated a new primer design for exon 5 of the RHD gene. Neonatal serology for RhD typing using cord blood at birth was undertaken and results were stored in a separate clinical database. After unblinding the data, results of the DNA analysis were compared with the neonatal serology.

RESULTS:

Inconclusive results secondary to the presence of the RHD pseudogene or an RHD variant were noted in 5.6%, 5.7%, and 6.1% of the first-, second-, and third-trimester samples, respectively. The incidence of false-positive rates for RhD (an RhD-negative fetus with an RHD-positive result) was 1.54% (95% confidence interval [CI] 0.42–5.44%), 1.53% (CI 0.42–5.40%), and 0.82% (CI 0.04–4.50%), respectively. There was only one false-negative diagnosis (an RhD-positive fetus with an RHD-negative result), which occurred in the first trimester (0.32%; 95% CI 0.08–1.78%). Genotyping for mismatches across repeated samples revealed that this error was related to mislabeling of samples from two patients collected on the same day at one of the collection sites. Overall test results were in agreement across all three trimesters (P>.99).

CONCLUSION:

Circulating cell-free DNA can accurately predict the fetal RhD status in all three trimesters of pregnancy.
Blood Loss as a Function of Body Surface Area
Authors: Burtch Radha , Scott Chantal , Zimmerman Lindsay , Patel Ashlesha
Published: November 2016

OBJECTIVE:

To identify average blood loss in vaginal and cesarean deliveries in a cohort of women based on body surface area and compare this with the standard definitions.

METHODS:

In this descriptive study, we analyzed data from 459 deliveries. We identified the median estimated blood loss across the sample. Using body surface area, we calculated the total blood volume for each woman and represented estimated blood loss as a percentage of total blood volume. For each quintile of body surface area, we determined the median estimated blood loss at delivery, the median total blood volume, and the volumes of blood loss that represent 5%, 10% and 15% of total blood volume, respectively.

RESULTS:

A total of 459 women met inclusion criteria. Median body surface area was 1.9 m2 and median total blood volume was 5,046 mL. Median estimated blood loss was 300 mL and represented 5.9% of total blood volume. For each body surface area quintile, median estimated blood loss and percent total blood volume were: quintile 1, 250 mL, 5.7% total blood volume; quintile 2, 400 mL, 8.5% total blood volume; quintile 3, 300 mL, 5.9% total blood volume, quintile 4, 300 mL, 5.6% total blood volume, and quintile 5, 400 mL, 6.7% total blood volume.

CONCLUSION:

Redefining obstetric blood loss as a percentage of total blood volume rather than one universal value may help appropriate targeting of interventions.
Adverse Pregnancy Outcomes After Treatment for Cervical Intraepithelial Neoplasia
Authors: Bjørge Tone , Skare Gry B. , Bjørge Line , Tropé Ameli , Lönnberg Stefan
Published: November 2016

OBJECTIVE:

To explore associations between specific treatments for intraepithelial or early invasive cervical lesions and adverse pregnancy outcomes.

METHODS:

We conducted a population-based cohort study in which treatment data from the Cancer Registry of Norway were linked to the Medical Birth Registry of Norway to identify adverse pregnancy outcomes. All women (n=545,243) with singleton births (N=943,321) in Norway during 1998–2014 were included; 9,554 of births were in women treated before delivery. Hazard ratios (HRs) with 95% confidence intervals (CIs) were derived from Cox regression models.

RESULTS:

There was a significant association between preterm birth and previous treatment of cervical lesions overall (9.7 compared with 5.3%; HR 1.8, 95% CI 1.7–2.0). The strongest associations were seen for cold knife (13 compared with 5.3%; HR 2.6, 95% CI 1.3–5.3) and laser conization (12 compared with 5.3%; HR 2.3, 95% CI 2.0–2.5). The association was stronger for preterm birth at earlier gestational ages and increased with amount of tissue excised. Furthermore, the association weakened with calendar year of treatment. There was also an association with increased risks of spontaneous abortion (0.5 compared with 0.2%; HR 2.5, 95% CI 1.7–3.7), and the strongest associations were seen for laser conization (0.6 compared with 0.2%; HR 3.0, 95% CI 1.8–5.3) and a loop electrosurgical excision procedure (LEEP) (0.4 compared with 0.2%; HR 2.3, 95% CI 1.3–4.0).

CONCLUSION:

Treatment with major excisional procedures, including LEEP, was associated with increased risks of preterm birth and spontaneous abortion. The risk of preterm birth was highest at early gestational ages and for those with the largest amount of tissue excised. Women should be informed about their future risk of adverse pregnancy outcomes, particularly preterm birth, after excisional treatment for cervical lesions.
The Use of a Transolecranon Pin in the Treatment of Pediatric Flexion-type Supracondylar Humerus Fractures
Authors: Green Brandon M. , Stone Joseph D. , Bruce Robert W. , Fletcher Nicholas D.
Published: November 2016

Background:

Flexion-type supracondylar humerus fractures are much more uncommon than their extension-type counterparts. Instability in elbow flexion renders traditional closed techniques inadequate and often results in the need for open reduction. We present a simple technique for closed reduction using a transolecranon pin for temporary stability.

Methods:

A retrospective review of 9 patients treated with a transolecranon pin technique for a flexion-type supracondylar humerus fracture was performed. Operative time, need for open reduction, postoperative range of motion, final radiographic alignment using Baumann angle, and the intersection of the anterior humeral line with the capitellum was evaluated.

Results:

All 9 patients were treated with closed reduction using a temporary transolecranon pin technique. Total surgical time averaged 38±15 minutes and was longer for type III than type II flexion-type fractures. All fractures healed by first follow-up at 1 month. There was 1 preoperative ulnar nerve deficit that resolved by the first postoperative visit. Average Baumann angle at radiographic healing was 71.2±3.3 degrees and all cases showed restoration of the normal anterior humeral line:capitellar relationship. Average postoperative flexion at final follow-up was 125 degrees and extension was 5 degrees. One patient had a flexion contracture of 10 degrees.

Discussion:

Use of a temporary transolecranon pin allowed for closed reduction of all flexion-type fractures with no radiographic malunion. This technique is technically simple and avoids the need for open reduction or multiple fluoroscopy views.

Level of Evidence:

Level IV—case series.
Intermediate to Long-term Results of Femoral Neck Lengthening (Morscher Osteotomy)
Authors: Eidelman Mark , Keshet Doron , Nelson Scott , Bor Noam
Published: November 2016

Background:

Femoral neck lengthening and transfer of the greater trochanter were introduced by Morscher as treatment for patients with coxa breva and overgrowth of the greater trochanter. In this study we evaluated intermediate and long-term results of this operation.

Methods:

We reviewed clinical and radiographic results of 18 patients (20 hips) who were treated by Morscher osteotomy. Ten patients had Perthes disease, 4 had developmental dysplasia of the hip, and 4 had avascular necrosis of the hip. The median age at surgery was 16 years [interquartile range (IQR): 14 to 17.5]. The median follow-up period was 7 years (IQR: 4.5 to 10). All patients were evaluated clinically by means of Harris Hip Score (HHS) before and after surgery.

Results:

Preoperative clinical examination revealed that all patients had a limp and a positive Trendelenburg test. Median HHS was 72.5 (IQR: 69 to 83). Postoperatively, the Trendelenburg test was negative in 14 hips and positive in 6 hips. Postoperative median HHS was 94.5 (IQR: 89 to 96). Radiographic examination showed progression of osteoarthritis in 3 patients. One operation failed and was converted to total arthroplasty (total hip replacement) after 4 years. Two hips required total hip replacement 10 years after the operation. Leg length discrepancy was reduced in 17/20 hips. Overall patient satisfaction level was good-excellent in 12 patients, fair in 4, and bad in 2 patients. Postoperative complications included blade migration (1 patient (and wire breakage (2 patients).

Conclusions:

Morscher osteotomy can be effective for the treatment of patients with short femoral neck and overgrowth of the greater trochanter with a positive Trendelenburg test and mild leg length discrepancy. A congruent nonarthritic hip joint is a prerequisite for the success of the operation.

Level of Evidence:

Level IV.
Mucinous Rectal Adenocarcinoma Is Associated with a Poor Response to Neoadjuvant Chemoradiotherapy: A Systematic Review and Meta-analysis
Authors: McCawley Niamh , Clancy Cillian , O’Neill Brian D. P. , Deasy Joseph , McNamara Deborah A. , Burke John P.
Published: November 2016

BACKGROUND:

Mucinous adenocarcinoma represents a potentially poor prognostic subgroup of rectal cancer. A consensus on the effect of mucinous cancer on outcomes following neoadjuvant chemoradiotherapy and curative resection for rectal cancer has not been reached.

OBJECTIVE:

The aim of the current study is to use meta-analytical techniques to assess the association between mucinous histology and response to neoadjuvant chemoradiotherapy in rectal cancer.

DATA SOURCES:

A comprehensive literature search of PubMed, Embase, and The Cochrane Library was performed.

STUDY SELECTION:

All studies examining the effect of mucinous histology on chemotherapeutic response in rectal cancer were included.

INTERVENTIONS:

No direct interventions were performed.

MAIN OUTCOME MEASURES:

Outcomes of mucinous rectal adenocarcinoma were compared with nonmucinous tumors by using random-effects methods to analyze data. Data are presented as ORs with 95% CIs. The main outcomes measured were the rates of pathological complete response, tumor and nodal downstaging, positive resection margin rate, local recurrence, and overall mortality.

RESULTS:

Eight comparative series describing outcomes in 1724 patients were identified, 241 had mucinous tumors (14%). Mucinous tumors had a reduced rate of pathological complete response (OR, 0.078; 95% CI, 0.015–0.397; p = 0.002) and tumor downstaging (OR, 0.318; 95% CI, 0.185–0.547; p < 0.001) following neoadjuvant chemoradiotherapy with an increased rate of positive resection margin (OR, 5.018; 95% CI, 3.224–7.810; p < 0.001) and poorer overall survival (OR, 1.526; 95% CI, 1.060–2.198; p = 0.023) following resection. Mucin expression did not significantly affect nodal downstaging (OR, 0.706; 95% CI, 0.295–1.693; p = 0.435) or local recurrence (OR, 1.856; 95% CI, 0.933–3.693; p = 0.078). There was no across-study heterogeneity for any end point.

LIMITATIONS:

Most studies were retrospectively designed, and there were variations in patient populations and duration of follow-up.

CONCLUSIONS:

Mucinous rectal adenocarcinoma represents a biomarker for poor response to preoperative chemoradiotherapy and is an adverse prognostic indicator.
Correlation Between Echodefecography and 3-Dimensional Vaginal Ultrasonography in the Detection of Perineal Descent in Women With Constipation Symptoms
Authors: Murad-Regadas Sthela M. , Pinheiro Regadas Francisco Sergio , Rodrigues Lusmar V. , da Silva Vilarinho Adjra , Buchen Guilherme , Borges Livia Olinda , Veras Lara B. , da Cruz Mariana Murad
Published: November 2016

BACKGROUND:

Defecography is an established method of evaluating dynamic anorectal dysfunction, but conventional defecography does not allow for visualization of anatomic structures.

OBJECTIVE:

The purpose of this study was to describe the use of dynamic 3-dimensional endovaginal ultrasonography for evaluating perineal descent in comparison with echodefecography (3-dimensional anorectal ultrasonography) and to study the relationship between perineal descent and symptoms and anatomic/functional abnormalities of the pelvic floor.

DESIGN:

This was a prospective study.

SETTING:

The study was conducted at a large university tertiary care hospital.

PATIENTS:

Consecutive female patients were eligible if they had pelvic floor dysfunction, obstructed defecation symptoms, and a score >6 on the Cleveland Clinic Florida Constipation Scale.

INTERVENTIONS:

Each patient underwent both echodefecography and dynamic 3-dimensional endovaginal ultrasonography to evaluate posterior pelvic floor dysfunction.

MAIN OUTCOME MEASURES:

Normal perineal descent was defined on echodefecography as puborectalis muscle displacement ≤2.5 cm; excessive perineal descent was defined as displacement >2.5 cm.

RESULTS:

Of 61 women, 29 (48%) had normal perineal descent; 32 (52%) had excessive perineal descent. Endovaginal ultrasonography identified 27 of the 29 patients in the normal group as having anorectal junction displacement ≤1 cm (mean = 0.6 cm; range, 0.1–1.0 cm) and a mean anorectal junction position of 0.6 cm (range, 0–2.3 cm) above the symphysis pubis during the Valsalva maneuver and correctly identified 30 of the 32 patients in the excessive perineal descent group. The κ statistic showed almost perfect agreement (κ = 0.86) between the 2 methods for categorization into the normal and excessive perineal descent groups. Perineal descent was not related to fecal or urinary incontinence or anatomic and functional factors (sphincter defects, pubovisceral muscle defects, levator hiatus area, grade II or III rectocele, intussusception, or anismus).

LIMITATIONS:

The study did not include a control group without symptoms.

CONCLUSIONS:

Three-dimensional endovaginal ultrasonography is a reliable technique for assessment of perineal descent. Using this technique, excessive perineal descent can be defined as displacement of the anorectal junction >1 cm and/or its position below the symphysis pubis on Valsalva maneuver.
Treating schizophrenia during menopause
Authors: Brzezinski Amnon , Brzezinski-Sinai Noa A. , Seeman Mary V.
Published: November 2016

Objective:

The aim of this review is to examine three questions: What are the risks and benefits of treating women with schizophrenia with hormone therapy (HT) at menopause? Should the antipsychotic regimen be changed at menopause? Do early- and late-onset women with schizophrenia respond differently to HT at menopause?

Methods:

MEDLINE databases for the years 1990 to 2016 were searched using the following interactive terms: schizophrenia, gender, menopause, estrogen, and hormones. The selected articles (62 out of 800 abstracts) were chosen on the basis of their applicability to the objectives of this targeted narrative review.

Results:

HT during the perimenopause in women with schizophrenia ameliorates psychotic and cognitive symptoms, and may also help affective symptoms. Vasomotor, genitourinary, and sleep symptoms are also reduced. Depending on the woman's age and personal risk factors and antipsychotic side effects, the risk of breast cancer and cardiovascular disease may be increased. Antipsychotic types and doses may need to be adjusted at menopause, as may be the mode of administration.

Conclusions:

Both HT and changes in antipsychotic management should be considered for women with schizophrenia at menopause. The question about differences in response between early- and late-onset women cannot yet be answered.
Immunizations for adult women
Authors: Faubion Stephanie S. , Larkin Lisa C.
Published: November 2016

Immunizations protect individual persons and contribute to public health by reducing morbidity and mortality associated with common infectious diseases. In this Practice Pearl, we review guidelines for adult immunizations and recent and potential changes in vaccines.
Eight-strand Cross-locked Cruciate Flexor Tendon Repair Using Double-stranded Suture: A Description of the Surgical Technique
Authors: Watanabe Kentaro , Ota Hideyuki , Sasaki Hiroshi
Published: November 2016

This article describes a technique for improved repair of digital flexor tendon laceration. Eight-strand cross-locked cruciate repair using 4-0 caliber double-stranded suture is not bulky and has a smooth configuration for tendon gliding. Additionally, it has sufficient strength for early postoperative active motion exercise.
MULTIPLE EVANESCENT WHITE DOT SYNDROME WITH CENTRAL VISUAL LOSS
Authors: Barile Gaetano R. , Harmon Sarah A.
Published: November 2016

Purpose:

To report the clinical case of a 64-year-old man who developed several features of multiple evanescent white dot syndrome (MEWDS) but with central visual loss that persisted because of significant structural macular disease.

Methods:

A case report was generated by a review of the clinical course and imaging investigations of one patient, along with review of the literature.

Results:

A 64-year-old man noted decreased vision in the right eye for 2 weeks, associated with a central scotoma with shimmering, gauze effect of the vision. He had a good vision with normal ophthalmic examinations in the past. Ophthalmic examination revealed acuity of 20/400 with central scotoma and trace pupillary defect in the right eye, normal anterior segment, no evidence of intraocular inflammation, and fundus findings of unilateral MEWDS associated with a central zone of macular pigmentary atrophy. Autofluorescence imaging revealed reflectance changes of MEWDS as well as prominent central hypofluorescence and a zone of hyperfluorescence in inferior macula. Spectral-domain optical coherence tomography identified mild disruptions of outer retina in the regions of the MEWDS lesions and disorganization of the outer retina in the macular region overlying a shallow irregular retinal pigment epithelial detachment. The choroid demonstrated increased thickness compared with the fellow eye with suggestions of dilated outer vessels/pachyvessels. Fluorescein angiography and indocyanine green angiography revealed window defects and staining and hypocyanescence, respectively, of the central macular lesion. The MEWDS lesions resolved without evolution to chorioretinal scars, and the central vision and lesions did not benefit from a systemic steroid course or intravitreal anti–vascular endothelial growth factor therapy.

Conclusion:

This case illustrates an unusual presentation of MEWDS characterized by unilateral retinal disease presenting with symptoms and signs of profound central macular dysfunction. The clinical course did not evolve into other inflammatory retinal phenotypes, such as multifocal choroiditis or AZOOR (acute zonal occult outer retinopathy) that can sometimes develop MEWDS-like features or central disease. The central structural disease resembles some features of the pachychoroid clinical spectrum, which may have represented a superimposed diagnosis unrelated to the inflammatory phenotype.
Caregiving Immediately After Stroke: A Study of Uncertainty in Caregivers of Older Adults
Authors: Byun Eeeseung , Riegel Barbara , Sommers Marilyn , Tkacs Nancy , Evans Lois
Published: November 2016

Background: Caregivers of stroke survivors experience high rates of mental and physical morbidity. Stroke has sudden onset, and the outcome is not immediately known. Uncertainties surrounding the new caregiving role may not only necessitate major changes in the lives of family caregivers but also contribute to negative health outcomes for the caregiver. Purpose: The purposes of this study were to describe caregiver uncertainty across the early weeks after a family member’s stroke and to explore characteristics of caregivers and stroke survivors associated with that uncertainty. Methods: A prospective, longitudinal exploratory observational study was conducted with a convenience sample of 40 caregivers and older adult (≥65 years) stroke survivors recruited from urban acute care settings in the mid-Atlantic region. Caregivers were enrolled by 2 weeks poststroke (T1) and revisited 4 weeks later (T2). Uncertainty was measured usingthe Mishel Uncertainty in Illness Scale for Family Members. An unadjusted linear mixed model was computed to examine significant associations between each caregiver or stroke survivor characteristic and repeated measures of uncertainty. Results: Uncertainty at T1 (83.73 ± 23.47) was higher than reported in other caregiver populations and remained high 6 weeks poststroke (T2: 85.23 ± 23.94). Each of the following characteristics was independently associated with greater caregiver uncertainty: caregivers’ older age (p = .019), being a spouse (p = .01), higher stress (p < .001), more depressive symptoms (p = .001), more comorbidities (p = .035), and poorer coping capacity (p = .002) and stroke survivors’ recurrent stroke (p = .034), poorer functional status (p = .009), and insurance type (p = .008). Conclusions: Caregivers experienced persistently high uncertainty during the first 6 weeks poststroke. Better understanding of uncertainty, its associated characteristics, and its outcomes may help clinicians identify caregivers at highest risk who may benefit from targeted interventions.
Predictors of Postoperative Nausea and Vomiting in Neurosurgical Patients
Authors: Hellickson Jodi D. , Worden Wendy R. , Ryan Crystal , Miers Anne G. , Benike Deborah A. , Frank Sydney P. , Rhudy Lori M.
Published: November 2016

In the neurosurgery patient population, one of the most frequent complications is postoperative nausea and vomiting (PONV). The purpose of this predictive correlational study was to examine the incidence and predictors of PONV in a cohort of 519 neurosurgery patients undergoing elective spinal and intracranial procedures. Patients were interviewed, and their medical records were reviewed every 24 hours for up to 72 hours postoperatively to identify risk factors for PONV development. After summarizing univariate associations, a multivariable logistic regression model for each outcome was developed using forward and backward stepwise selection, with the p value for a variable to enter or leave the model set to .05. Women, especially those who were younger and with a history of PONV, were most likely to have PONV. In addition, those undergoing craniotomy, particularly infratentorial craniotomy, were more likely to have PONV compared with patients undergoing spine surgery. This study provides a foundation for nursing and interdisciplinary intervention studies aimed at reducing this postoperative symptom in the most susceptible patients.
The Glasgow Coma Scale (GCS): Deciphering the Motor Component of the GCS
Authors: Maserati Megan , Fetzick Anita , Puccio Ava
Published: November 2016

The Glasgow Coma Scale (GCS) was developed to standardize the assessment of neurologically compromised patients, to assist in triaging severity of injury, and to direct management decisions for an individualized plan of care. This examination allows for frequent assessments to ascertain worsening of neurological symptoms that would warrant additional radiological scans or interventions. The GCS score is composed of three components: eye, verbal, and motor, with motor being the most difficult to assess. A need for clarification of the motor component of the GCS was identified in a neurotrauma intensive care unit (ICU) at a level 1 hospital in the United States. The aim of this article is to illustrate the need for clear, common language to describe the patient’s motor response to a painful stimulus post head injury, to avoid communication breakdown between healthcare professionals. Proper training and understanding of the components of the GCS, particularly the motor component, will lead to proper use of the scale and thus clearer communication among healthcare professionals. Pre- and post-GCS training tests were administered during educational sessions, with demographics collected. A focus of training was on the motor component of the GCS. A multiple-choice selection included all motor score choices. Tests were de-identified with a matching number to calculate prescoring and postscoring. Of the 54 nurses tested, 50% incorrectly completed the pretest, of which 37% had ≥5 years ICU experience. Moreover, 93% of the posttests were correct. Further evaluation is required to assess accuracy of communicating examination findings to physicians and documentation in the electronic record.
The Emerging Role of the Gut Microbiome in Adult Patients With Multiple Sclerosis
Authors: Newland Pamela K. , Heitkemper Margaret , Zhou Yanjiao
Published: November 2016

Background: Approximately 2.3 million people worldwide are currently living with multiple sclerosis (MS). The pathophysiologic mechanism of MS is not well known. It has been suggested that alterations in the normal gut flora may contribute to MS etiology and symptoms. Objective: The aims of this review are to describe the data suggesting a role for the gut microbiome in MS research and address its implications for practice. Methods: A literature search of the following databases (PubMed, CINAHL, Cochrane library database, MEDLINE, Scopus, and Psychology and Behavioral Sciences) was conducted to find published studies relevant to gut microbiome in patients with MS. Study Selection: Five articles met the inclusion criteria of research studies of human gut microbiome in adults in English language and those receiving disease-modifying medications. Exclusion criteria were case reports and reviews. Results: Human studies found that the gut microbiome was different among patients with MS, patients with MS who were treated with glatiramer acetate, and healthy controls. Discussion: There is beginning evidence to suggest that the gut microbiota is related to autoimmunity and the pathology of MS. However, more research is necessary to clarify these mechanisms. Implications for Practice: A better understanding of the role of the gut microbiota in MS may lead to the development of targeted individualized interventions affecting the gut microbiota. These interventions may emphasize symptom self-management strategies such as diet.
Clinical, psychological, and physiological correlates of patients who defecate after meal
Authors: Bouchoucha Michel , Devroede Ghislain , Mary Florence , Bon Cyriaque , Airinei Gheorges , Bejou Bakhtiar , Benamouzig Robert
Published: November 2016

Background and aims

Food is the most important synchronizer of gastrointestinal motility and secretion. Many patients with functional bowel or anorectal disorders complain of fecal urge and stool output after eating.

Patients and methods

In this prospective observational study, 408 consecutive outpatients with functional bowel and/or anorectal disorders (74% female, 50.2±15.6 years, 24.8±5.0 kg/m²) filled Rome III questionnaires. Depression and anxiety scores, a physiological evaluation (total and segmental colonic transit time, colonic transit response to eating using a standard 1000 kcal test meal, and anorectal manometry), were measured. Univariate analysis and multivariate logistic regression were carried out according to the presence or not of stool output after eating.

Results

Defecation after eating was found in 21% of patients. These patients were not different according to the demographic characteristics of sex ratio (P=0.702), age (P=0.830), and BMI (P=0.314). In contrast, they had lower state anxiety (P=0.032), but similar scores of depression (P=0.240) and trait anxiety (P=0.933). They had similar manometric characteristics (anal pressure and rectal sensitivity), but a greater response to eating in all segments of the colon. There was an increase in the frequency of functional diarrhea (odds ratio=2.576, 95% confidence interval=1.312–5.056; P=0.006) and levator ani syndrome (odds ratio=2.331, 95% confidence interval=1.099–4.944; P=0.017), but no other functional bowel disorder including irritable bowel syndrome and its subtypes was found.

Conclusion

Stool output after eating is associated with clinical disorders but not physiological parameters. This symptom is not associated with irritable bowel syndrome, but a higher frequency of functional diarrhea.
Rapid Fatal Acute Peripheral T-Cell Lymphoma Associated With IgG Plasma Cell Leukemia and IgA Hypergammaglobulinemia
Authors: Jonjić Nives , Seili Bekafigo Irena , Fučkar Čupić Dora , Lučin Ksenija , Duletić Načinović Antica , Valković Toni
Published: November 2016

Simultaneous occurrence of T-cell and B-cell neoplasms is rare, and etiologic relationships between these 2 malignancies are poorly understood. We describe the case of a 66-year-old woman who was admitted to the hospital because of fever, hemoptysis, lymphadenopathy, and skin rash. Enlarged lymph nodes in axillary, pectoral, paratracheal, and periportal regions as well as slight hepatomegaly and splenomegaly were confirmed. A peripheral blood smear revealed rouleaux formation and numerous circulating plasma cells, with plasmacytoid lymphocytes. Immunofixation-electrophoresis detected a monoclonal band defined as immunoglobulin (IgG)-lambda light chains with broad-band polyclonal IgA. The patient died from abrupt splenic rupture before diagnostic work-up was finished. Postmortem examination revealed infiltration of atypical lymphoid cells exhibiting high proliferative activity admixed with typical and atypical plasma cells in several organs. Thus, plasma cell leukemia (IgG-lambda) as a rare and aggressive variant of plasma cell myeloma in the present case was associated with aggressive peripheral T-cell lymphoma and polyclonal (IgA) plasmacytosis.
Heterotopic Pregnancy Including Intrauterine Normal Gestation and Tubal Complete Hydatidiform Mole: A Case Report and Review of the Literature
Authors: Lu Dan , Tang Jian Jenny , Zakashansky Konstantin , Berkowitz Ross S. , Kalir Tamara , Liu Yuxin
Published: November 2016

We report a rare case of heterotopic pregnancy with intrauterine normal gestation alongside tubal complete hydatidiform mole (CHM) that resulted in a viable pregnancy after removal of molar tissue. Because of their rarity and inherent complexity, such cases represent a significant challenge in diagnosis and management. A 34-year-old female in her 10th week of gestation presented with nausea, vomiting, and intermittent abdominal pain that progressively worsened. Imaging studies revealed a normal intrauterine fetus and an 11-cm heterogenous mass in the left adnexal region. The patient’s serum human chorionic gonadotropin was higher than the reference range. Diagnostic laparoscopy revealed a large hemorrhagic mass involving the left adnexa that was removed completely. The mass was composed of blood clots admixed with necrotic tissue of vesicular appearance on gross inspection. Microscopic examination revealed large chorionic villi with circumferential trophoblastic proliferation and cisterns, all of which are characteristic of CHM. An implantation site was identified at the tubal fimbriae. Immunohistochemistry p57 demonstrated negative staining in the villous stromal and cytotrophoblastic cells, supporting the diagnosis of CHM. Chromosomal karyotyping and cytogenetic analysis were performed on chorionic villi samples from the intrauterine gestation and reported as normal (46, XX). The patient elected to continue the intrauterine pregnancy, delivering a healthy female infant at 39 weeks. Our case reaffirms that to successfully manage this rare yet life-threatening condition, heterotopic pregnancy should be included in the differential diagnosis for any gravid women presenting with persistent abdominal pain and/or extrauterine mass.
Case Report: Use of Tumor and Germline Y Chromosomal Analysis to Guide Surgical Management in a 46, XX Female Presenting With Gonadoblastoma With Dysgerminoma
Authors: McCuaig Jeanna M. , Noor Abdul , Rosen Barry , Casper Robert F. , Mitri Frederic , Colgan Terence , Kim Raymond H.
Published: November 2016

Gonadoblastomas are rare mixed gonadal tumors that are almost always found in individuals with 46, XY karyotype or some other form of Y chromosome mosaicism. It is extremely rare to diagnose gonadoblastoma in phenotypically normal 46, XX females. Herein, we present a 20-year-old 46, XX female diagnosed with gonadoblastoma and dysgerminoma. Use of cytogenetic and molecular analyses to identify the presence of Y chromosome material in peripheral blood, gonadal, and tumor tissue can exclude mosaicism to provide reassurance to undertake conservative surgical management and preserve fertility.
Commentary on 3 Unusual Cases Involving Electroconvulsive Therapy
Authors: KAHN DAVID A.
Published: November 2016

Well-established practice guidelines and a solid body of evidence underpin the safe and effective use of electroconvulsive therapy (ECT), primarily in mood disorders. In this issue of the journal, 3 case reports deal with situations that fall outside of the usual guidelines: treatment resistance to ECT overcome by combined use with antidepressant medication; use of ECT in the presence of polymyositis; and use of ECT for an unusually severe case of neuroleptic malignant syndrome, assisted by consultation from an online expert resource. The value of case reports and expert consultation in situations in which there is little or no evidence from clinical trials is also discussed.
Possible Synergy Between Electroconvulsive Therapy and Imipramine: A Case Report
Authors: BIRKENHÄGER TOM K. , PLUIJMS ESTHER M.
Published: November 2016

This report describes a 63-year-old woman, who had experienced 3 previous episodes of severe major depressive disorder. The first 2 episodes responded to treatment with antidepressants, whereas the third episode was accompanied by psychotic features and responded well to treatment with electroconvulsive therapy (ECT). After a severe relapse, the patient responded very slowly to a second course of ECT and failed to achieve full remission. Within a few weeks, she had another severe relapse and responded very rapidly to a combination of ECT and imipramine. The possible enhancement of the antidepressant efficacy of ECT by combining it with a tricyclic antidepressant (TCA) has received little study, although the literature provides some evidence for a synergy between ECT and TCAs. Combining ECT with a TCA may be a useful strategy in patients who fail to achieve full remission or who experience a rapid relapse.
Use of Expert Consultation in a Complex Case of Neuroleptic Malignant Syndrome Requiring Electroconvulsive Therapy
Authors: WITTENAUER WELSH JUSTINE , JANJUA A. UMAIR , GARLOW STEVEN J. , MCCORMICK LAURIE , HUSAIN MUSTAFA M. , MAIXNER DANIEL F. , WEINER RICHARD D. , HERMIDA ADRIANA P.
Published: November 2016

Our team at Emory University Hospital contacted experts at the National Network of Depression Centers (NNDC) for clinical guidance concerning a patient with schizophrenia hospitalized in the intensive care unit with a complex case of prolonged delirium secondary to neuroleptic malignant syndrome (NMS). Through the NNDC, leading psychiatrists across the United States with expertise in electroconvulsive therapy (ECT) provided us with treatment strategies based on experience in our area of concern. This report describes our use of ECT to treat severe NMS in this patient with schizophrenia, utilizing the recommendations made by the NNDC’s ECT experts concerning electrode position, number and frequency of treatments, and selection of anesthetic induction agents. This case report highlights the utility of expert consultation in the treatment of rare diseases and provides guidance on how to treat NMS in the intensive care unit setting.
An Open Trial of a Smartphone-assisted, Adjunctive Intervention to Improve Treatment Adherence in Bipolar Disorder
Authors: WENZE SUSAN J. , ARMEY MICHAEL F. , WEINSTOCK LAUREN M. , GAUDIANO BRANDON A. , MILLER IVAN W.
Published: November 2016

We evaluated the feasibility and acceptability of a novel, 12-week, adjunctive, smartphone-assisted intervention to improve treatment adherence in bipolar disorder. Eight participants completed 4 in-person individual therapy sessions over the course of a month, followed by 60 days of twice-daily ecological momentary intervention (EMI) sessions, with a fifth in-person session after 30 days and a sixth in-person session after 60 days. Perceived credibility of the intervention and expectancy for change were adequate at baseline, and satisfaction on completion of the intervention was very high. Participants demonstrated good adherence to the intervention overall, including excellent adherence to the in-person component and fair adherence to the smartphone-facilitated component. Qualitative feedback revealed very high satisfaction with the in-person sessions and suggested a broad range of ways in which the EMI sessions were helpful. Participants also provided suggestions for improving the intervention, which primarily related to the structure and administration of the EMI (smartphone-administered) sessions. Although this study was not designed to evaluate treatment efficacy, most key outcome variables changed in the expected directions from pretreatment to posttreatment, and several variables changed significantly over the course of the in-person sessions or during the EMI phase. These findings add to the small but growing body of literature suggesting that EMIs are feasible and acceptable for use in populations with bipolar disorder.
The Feasibility of Dual-Energy Computed Tomography in Cardiac Contusion Imaging for Mildest Blunt Cardiac Injury
Authors: Sade Recep , Kantarci Mecit , Ogul Hayri , Bayraktutan Ummugulsum , Uzkeser Mustafa , Aslan Sahin , Aksakal Enbiya , Becit Necip
Published: November 2016

Purpose

The purpose of this study was to evaluate the efficiency and feasibility of dual-energy computed tomography (DECT) used in the diagnosis of cardiac contusion with the mildest blunt cardiac injury.

Material and Methods

This study was performed between February 2014 and September 2015; a total of 17 consecutive patients (10 men and 7 women; median age, 51 years [range: 20–78]) were enrolled in the study. The DECT was performed within 48 hours of the trauma and a subsequent follow-up DECT was performed a little less than 1 year after the first examination. All examinations were analyzed on iodine map images by 2 experienced radiologists. Interobserver and intraobserver agreement was calculated. The correlation of initial troponin level, age, and sex with number of contusion areas in the left ventricle and complete recovery of contusion were measured.

Results

The contusion areas were amorphous, with considerable variation in their size, shape, and density. Contusions were primarily located in the left free wall of the ventricle, the ventricular septum, and the apex, respectively. In 10 patients, contusion areas disappeared on follow-up examination. In 4 patients, the contusion areas decreased but were still present in the follow-up examination. The interobserver agreements were almost perfect with respect to the presence of cardiac contusion, the anatomic location of contusions, and the contusion areas (kappa values of 1.0, 1.0, and 0.9 for intraobserver agreement and 1.0, 1.0, and 1.0 for intraobserver agreement, respectively). Correlations were found between age of patients and complete recovery of contusion (P = 0.01).

Conclusions

Dual-energy computed tomography can show cardiac contusion and could be useful and feasible for the diagnosis and follow-up of blunt cardiac injuries. Dual-energy computed tomography is a new, user-independent, and valuable imaging technique.
Introduction to provocative questions in left–right asymmetry
Authors: Levin Michael , Klar Amar J. S. , Ramsdell Ann F.
Published: November 2016

Left–right asymmetry is a phenomenon that has a broad appeal—to anatomists, developmental biologists and evolutionary biologists—because it is a morphological feature of organisms that spans scales of size and levels of organization, from unicellular protists, to vertebrate organs, to social behaviour. Here, we highlight a number of important aspects of asymmetry that encompass several areas of biology—cell-level, physiological, genetic, anatomical and evolutionary components—and that are based on research conducted in diverse model systems, ranging from single cells to invertebrates to human developmental disorders. Together, the contributions in this issue reveal a heretofore-unsuspected variety in asymmetry mechanisms, including ancient chirality elements that could underlie a much more universal basis to asymmetry development, and provide much fodder for thought with far reaching implications in biomedical, developmental, evolutionary and synthetic biology. The new emerging theme of binary cell-fate choice, promoted by asymmetric cell division of a deterministic cell, has focused on investigating asymmetry mechanisms functioning at the single cell level. These include cytoskeleton and DNA chain asymmetry—mechanisms that are amplified and coordinated with those employed for the determination of the anterior–posterior and dorsal–ventral axes of the embryo.

This article is part of the themed issue ‘Provocative questions in left–right asymmetry’.
Copy number variation as a genetic basis for heterotaxy and heterotaxy-spectrum congenital heart defects
Authors: Cowan Jason R. , Tariq Muhammad , Shaw Chad , Rao Mitchell , Belmont John W. , Lalani Seema R. , Smolarek Teresa A. , Ware Stephanie M.
Published: November 2016

Genomic disorders and rare copy number abnormalities are identified in 15–25% of patients with syndromic conditions, but their prevalence in individuals with isolated birth defects is less clear. A spectrum of congenital heart defects (CHDs) is seen in heterotaxy, a highly heritable and genetically heterogeneous multiple congenital anomaly syndrome resulting from failure to properly establish left–right (L-R) organ asymmetry during early embryonic development. To identify novel genetic causes of heterotaxy, we analysed copy number variants (CNVs) in 225 patients with heterotaxy and heterotaxy-spectrum CHDs using array-based genotyping methods. Clinically relevant CNVs were identified in approximately 20% of patients and encompassed both known and putative heterotaxy genes. Patients were carefully phenotyped, revealing a significant association of abdominal situs inversus with pathogenic or likely pathogenic CNVs, while d-transposition of the great arteries was more frequently associated with common CNVs. Identified cytogenetic abnormalities ranged from large unbalanced translocations to smaller, kilobase-scale CNVs, including a rare, single exon deletion in
ZIC3,
a gene known to cause X-linked heterotaxy. Morpholino loss-of-function experiments in
Xenopus
support a role for one of these novel candidates, the platelet isoform of phosphofructokinase-1 (
PFKP
) in heterotaxy. Collectively, our results confirm a high CNV yield for array-based testing in patients with heterotaxy, and support use of CNV analysis for identification of novel biological processes relevant to human laterality.

This article is part of the themed issue ‘Provocative questions in left–right asymmetry’.
From cytoskeletal dynamics to organ asymmetry: a nonlinear, regulative pathway underlies left–right patterning
Authors: McDowell Gary , Rajadurai Suvithan , Levin Michael
Published: November 2016

Consistent left–right (LR) asymmetry is a fundamental aspect of the bodyplan across phyla, and errors of laterality form an important class of human birth defects. Its molecular underpinning was first discovered as a sequential pathway of left- and right-sided gene expression that controlled positioning of the heart and visceral organs. Recent data have revised this picture in two important ways. First, the physical origin of chirality has been identified; cytoskeletal dynamics underlie the asymmetry of single-cell behaviour and patterning of the LR axis. Second, the pathway is not linear: early disruptions that alter the normal sidedness of upstream asymmetric genes do not necessarily induce defects in the laterality of the downstream genes or in organsitus. Thus, the LR pathway is a unique example of two fascinating aspects of biology: the interplay of physics and genetics in establishing large-scale anatomy, and regulative (shape-homeostatic) pathways that correct molecular and anatomical errors over time. Here, we review aspects of asymmetry from its intracellular, cytoplasmic origins to the recently uncovered ability of the LR control circuitry to achieve correct gene expression and morphology despite reversals of key ‘determinant’ genes. We provide novel functional data, inXenopus laevis, on conserved elements of the cytoskeleton that drive asymmetry, and comparatively analyse it together with previously published results in the field. Our new observations and meta-analysis demonstrate that despite aberrant expression of upstream regulatory genes, embryos can progressively normalize transcriptional cascades and anatomical outcomes. LR patterning can thus serve as a paradigm of how subcellular physics and gene expression cooperate to achieve developmental robustness of a body axis.

This article is part of the themed issue ‘Provocative questions in left–right asymmetry’.
Left–right leaf asymmetry in decussate and distichous phyllotactic systems
Authors: Martinez Ciera C. , Chitwood Daniel H. , Smith Richard S. , Sinha Neelima R.
Published: November 2016

Leaves in plants with spiral phyllotaxy exhibit directional asymmetries, such that all the leaves originating from a meristem of a particular chirality are similarly asymmetric relative to each other. Models of auxin flux capable of recapitulating spiral phyllotaxis predict handed auxin asymmetries in initiating leaf primordia with empirically verifiable effects on superficially bilaterally symmetric leaves. Here, we extend a similar analysis of leaf asymmetry to decussate and distichous phyllotaxy. We found that our simulation models of these two patterns predicted mirrored asymmetries in auxin distribution in leaf primordia pairs. To empirically verify the morphological consequences of asymmetric auxin distribution, we analysed the morphology of a tomato
sister-of-pin-formed1a
(
sopin1a
) mutant,
entire-2
, in which spiral phyllotaxy consistently transitions to a decussate state. Shifts in the displacement of leaflets on the left and right sides of
entire-2
leaf pairs mirror each other, corroborating predicted model results. We then analyse the shape of more than 800 common ivy (
Hedera helix
) and more than 3000 grapevine (
Vitis
and
Ampelopsis
spp.) leaf pairs and find statistical enrichment of predicted mirrored asymmetries. Our results demonstrate that left–right auxin asymmetries in models of decussate and distichous phyllotaxy successfully predict mirrored asymmetric leaf morphologies in superficially symmetric leaves.

This article is part of the themed issue ‘Provocative questions in left–right asymmetry’.