Cornelia de Lange syndrome and congenital diaphragmatic hernia

PurposeThere is a known association between Cornelia de Lange syndrome (CdLS) and congenital diaphragmatic hernia (CDH), with CDH being the cause of death in 5%–20% of CdLS cases. We aimed to identify and describe patients with CDLS and CDH. We hypothesized that CdLS would be associated with high-risk CDH and poor outcomes.MethodsCDH Study Group patients from 1995 to 2019 were included. Those with CdLS were reviewed retrospectively. Rates of repair and outcomes were compared between patients with and without CdLS.ResultsWe identified 9,251 CDH patients. Of those, 21 had confirmed CdLS. CdLS patients had a lower birth weight (2.2 ± 0.57 kg) than non-CdLS patients (2.9 ± 0.64 kg) (p < 0.001). 5-min Apgar scores were lower in CdLS patients (6, 4–7) than non-CdLS patients (7, 5–8) (p = 0.014). Only 33% of CdLS patients underwent diaphragmatic repair compared to 84.2% of non-CdLS patients (p < 0.001). Mortality was 76% for CdLS patients compared with 29% for non-CdLS patients (p < 0.001). Of the 7 CdLS patients who underwent repair, 5 survived to hospital discharge.ConclusionsInfants with CdLS and CDH have a poor prognosis. However, CdLS patients who undergo repair can survive to discharge; therefore, the concomitant diagnosis of CdLS and CDH is not necessarily a contraindication to repair. Early recognition of these anomalies can assist with counseling and prognostication.Type of studyRetrospective comparative studyLevel of evidenceIII     

Efficacy of allogeneic cord blood platelet gel on wounds of dystrophic epidermolysis bullosa patients after pseudosyndactyly surgery

Epidermolysis bullosa (EB) is a rare genetic disorder characterized by the formation of blisters and wounds in skin and mucous membranes; it is classified into four types and has various methods of treatment. Management of previous wounds and prevention of formation of new lesions are the most important strategies in the course of therapy to improve patient's quality of life; lack of wound management can lead to further complications such as infection. The current study investigated the therapeutic effects of allogeneic platelet gel (prepared from umbilical cord blood) in a group of children diagnosed with dystrophic epidermolysis bullosa (DEB) eligible for surgical correction of pseudosyndactyly in the hand. The post‐surgical clinical outcome in this group was compared with the clinical outcomes of DEB patients receiving the standard treatment (paraffin gauze wound dressing and topical antibiotics) after corrective surgery. The current study results showed an increase in the rate of recovery and promotion of tissue granulation, complete wound healing, and a decrease in pain level and treatment period. The application of cord blood platelet gel topical dressing was not a conventional method of treatment in patients with DEB wounds and blisters. However, the current study results demonstrated that this gel dressing could effectively accelerate epithelialization and healing of the wounds and decrease patients' pain and post‐surgical recovery period, which altogether leads to improvements in patients' overall quality of life.     

Relationship between depression,weight, and patient satisfaction 2 years after bariatric surgery

BackgroundFindings regarding longer term symptoms of depression and the impact of depression on outcomes such as weight loss and patient satisfaction, are mixed or lacking.ObjectivesThis study sought to understand the relationship between depression, weight loss, and patient satisfaction in the two years after bariatric surgery.SettingThis study used data from a multi-institutional, statewide quality improvement collaborative of 45 different bariatric surgery sites.MethodsParticipants included patients (N = 1991) who underwent Roux-en-Y gastric bypass (RYGB) or sleeve gastrectomy (SG) between 2015–2018. Participants self-reported symptoms of depression (Patient Health Questionnaire-8 [PHQ-8]), satisfaction with surgery, and weight presurgery and 1 year and 2 years postsurgery.ResultsCompared to presurgery, fewer patients’ PHQ-8 scores indicated clinically significant depression (PHQ-8≥10) at 1 year (P < .001; 14.3% versus 5.1%) and 2 years postsurgery (P < .0001; 8.7%). There was a significant increase in the prevalence of clinical depression from the first to second year postsurgery (P < .0001; 5.1% versus 8.7%). Higher PHQ-8 at baseline was related to less weight loss (%Total Weight Loss [%TWL] and %Excess Weight Loss [%EWL]) at 1 year postsurgery (P < .001), with a trend toward statistical significance at 2 years (P = .06). Postoperative depression was related to lower %TWL and %EWL, and less reduction in body mass index (BMI) at 1 year (P < .001) and 2 years (P < .0001). Baseline and postoperative depression were associated with lower patient satisfaction at both postoperative time points.ConclusionsThis study suggests improvements in depression up to 2 years postbariatric surgery, although it appears that the prevalence of depression increases after the first year. Depression, both pre- and postbariatric surgery, may impact weight loss and patient satisfaction.     

Factors associated with completion of patient surveys 1 year after bariatric surgery

BackgroundPatient-reported outcomes (PRO) obtained from follow-up survey data are essential to understanding the longitudinal effects of bariatric surgery. However, capturing data among patients who are well beyond the recovery period of surgery remains a challenge, and little is known about what factors may influence follow-up rates for PRO.ObjectivesTo assess the effect of hospital practices and surgical outcomes on patient survey completion rates at 1 year after bariatric surgery.SettingProspective, statewide, bariatric-specific clinical registry.MethodsPatients at hospitals participating in the Michigan Bariatric Surgery Collaborative are surveyed annually to obtain information on weight loss, medication use, satisfaction, body image, and quality of life following bariatric surgery. Hospital program coordinators were surveyed in June 2017 about their practices for ensuring survey completion among their patients. Hospitals were ranked based on 1-year patient survey completion rates between 2011 and 2015. Multivariable regression analyses were used to identify associations between hospital practices, as well as 30-day outcomes, on hospital survey completion rankings.ResultsOverall, patient survey completion rates at 1 year improved from 2011 (33.9% ± 14.5%) to 2015 (51.0% ± 13.0%), although there was wide variability between hospitals (21.1% versus 77.3% in 2015). Hospitals in the bottom quartile for survey completion rates had higher adjusted rates of 30-day severe complications (2.6% versus 1.7%, respectively; P = .0481), readmissions (5.0% versus 3.9%, respectively; P = .0157), and reoperations (1.5% versus .7%, respectively; P = .0216) than those in the top quartile. While most hospital practices did not significantly impact survey completion at 1 year, physically handing out surveys during clinic visits was independently associated with higher completion rates (odds ratio, 13.60; 95% confidence interval, 1.99?93.03; P =.0078).ConclusionsHospitals vary considerably in completion rates of patient surveys at 1 year after bariatric surgery, and lower rates were associated with hospitals that had higher complication rates. Hospitals with the highest completion rates were more likely to physically hand surveys to patients during clinic visits. Given the value of PRO on longitudinal outcomes of bariatric surgery, improving data collection across multiple hospital systems is imperative.     

Reversal to normal anatomy after one-anastomosis/mini gastric bypass,indications and results: a systematic review and meta-analysis

This review evaluates the indications and outcomes of one-anastomosis/mini gastric bypass (OAGB/MGB) reversal to normal anatomy. A systematic literature search and meta-analysis was performed in PubMed, Web of Science, and Scopus for articles published by October 1, 2020, including the keywords “one anastomosis gastric bypass,” “OAGB,” “mini gastric bypass,” “MGB,” “reversal,” “reverse,” “malnutrition,” and “reversal bariatric surgery”. After examining 182 papers involving 11,578 patients, 14 studies were included. A reversal was performed in 119 patients on average 23.6 months after the primary OAGB/MGB surgery. The mean body mass index (BMI) was 22.92 ± 3.47 kg/m² and the mean albumin level was 25.17 ± 4.21 g/L at reversal. The mean length of the common channel (CC) was 383.57 ± 159.35 cm, with a mean biliopancreatic limb (BPL) length of 214.21 ± 48.45 cm. Pooled estimation of the meta-analysis of prevalence studies reported a prevalence of 1% for reversal. The major signs and symptoms of protein-energy malnutrition were the leading causes of the reversal of OAGB/MGB. Bleeding, leakage, and death due to severe liver failure were the most reported complications after reversal, with an overall incidence of 10.9%. In conclusion, OAGB/MGB reversal has a prevalence of 1% and has a complication rate of 10.9%. Protein-energy malnutrition with hypoalbuminemia was the most common etiology. The mean lengths of BPL and CC were reported as 215 cm and 380 cm, respectively, in the cases. Therefore, special attention should be paid to malnutrition in all OAGB/MGB patients during follow-up to prevent severe malnutrition and subsequent increase in reversal procedures.     

Effects of mTOR inhibitor–related proteinuria on progression of cardiac allograft vasculopathy and outcomes among heart transplant recipients

We have previously described the use of sirolimus (SRL) as primary immunosuppression following heart transplantation (HT). The advantages of this approach include attenuation of cardiac allograft vasculopathy (CAV), improvement in glomerular filtration rate (GFR), and reduced malignancy. However, in some patients SRL may cause significant proteinuria. We sought to investigate the prognostic value of proteinuria after conversion to SRL. CAV progression and adverse clinical events were studied. CAV progression was assessed by measuring the Δ change in plaque volume (PV) and plaque index (PI) per year using coronary intravascular ultrasound. Proteinuria was defined as Δ urine protein ≥300 mg/24 h at 1 year after conversion to SRL. Overall, 137 patients were analyzed (26% with proteinuria). Patients with proteinuria had significantly lower GFR (P = .005) but similar GFR during follow-up. Delta PV (P < .001) and Δ PI (P = .001) were significantly higher among patients with proteinuria after adjustment for baseline characteristics. Multivariate Cox regression analysis showed higher all-cause mortality (hazard ratio 3.8; P = .01) with proteinuria but similar risk of CAV-related events (P = .61). Our results indicate that proteinuria is a marker of baseline renal dysfunction, and that HT recipients who develop proteinuria after conversion to SRL have less attenuation of CAV progression and higher mortality risk.     

Estrogen increases intracellular p26Bcl-2 to p21Bax ratios and inhibits taxol-induced apoptosis of human breast cancer MCF-7 cells

Recent studies have demonstrated that following estrogen ablation, estrogen responsive breast cancer cells undergo apoptosis. In addition, estrogen receptor (ER) expression has been strongly correlated with the expression of the bcl-2 gene product, p26Bcl-2 protein, which is known to inhibit apoptosis. In the present studies, we investigated whether estrogen affects the intracellular levels of p26Bcl-2 and thereby modulates taxol-induced apoptosis of estrogen responsive human breast cancer MCF-7 cells. Transfer of MCF-7 cells to a culture-medium without estrogens reduced their intracellular p26Bcl-2 levels by 50%. Inclusion of 0.1 M estradiol in the medium produced approximately a four-fold increase in p26Bcl-2, but not p29Bcl-xL or p21Bax levels; the expression of the c-myc and mdr-1 genes remained unchanged. Estradiol-induced four-fold increase in the ratio of the p26Bcl-2 to p21Bax levels caused a significant decline in the lethal, kilobase size DNA fragments of apoptosis, which had resulted when MCF-7 cells were cultured in a medium without estrogen. In addition, in MCF-7 cells, estradiol-induced increase in the intracellular p26Bcl-2 to p21Bax ratios was associated with a significant reduction in the large-sized DNA fragmentation induced by treatment with taxol. The increased ratios also protected MCF-7 cells against taxol-mediated cytotoxicity as assessed by the MTT assay. These results suggest that by modulating p26Bcl-2 levels, estrogens may affect the antitumor activity of taxol and potentially of other anti-breast cancer drugs against estrogen responsive human breast cancer cells.     

The problem of missing clinical data for research in psychopathology: some solution guidelines

There are no guidelines to help psychiatric researchers statistically adjust for missing data. We discuss the problems resulting from missing values, and illustrate some of them with examples from our work. Using structured instruments, we obtained clinical information from 241 patients. Some instrument items were not rated, and these did not occur randomly: hallucinations and delusions were most frequently unrated, especially in chronic schizophrenics, and patients with high scores for other psychopathology. Systematically assigning an intermediate value between present and absent to nonrated items was a satisfactory solution, unaffected by nonrandom missing values. This simple solution was equivalent to a complicated one (vectoring) in discriminating patients. When relationships between variables are linear, we recommend the intermediate value method as a practical solution to missing values. We stress that missing values do not mean missing information, and the most common response to missing values (dropping subjects) is least informative.     

Lymphedema as a presenting sign of toxocariasis

Summary Toxocariasis in children is usually an asymptomatic infection and those with clinical illness have non-specific systemic or local manifestations. We present a 24-month-old boy with bilateral lymphedema of the feet as the main clinical manifestation of toxocariasis. The child presented with limping and nonpitting edema of both feet. Laboratory investigation revealed leucocytosis of <20,000/mm³ with a differential count of <50% eosinophils. No other cause of edema was found. The ELISA for toxocariasis revealed a high titer of 1:4,096. The limping and the lymphedema disappeared during the third week of his illness. We suggest that toxocariasis should be considered as a possible cause of lymphedema and eosinophilia in young children.Zusammenfassung Die Toxocariasis nimmt bei Kindern in der Regel einen asymptomatischen Verlauf. Wenn Krankheitszeichen auftreten, handelt es sich um unspezifische Allgemeinsymptome oder lokale Symptome. Wir berichten über einen 24 Monate alten Jungen, bei dem ein bilaterales Lymphödem der Füße die Hauptmanifestation der Toxocariasis war. Das Kind hinkte und hatte an beiden Füßen ein nicht dellenbildendes Ödem. Dabei bestand eine Leukozytose von >20 000/mm³ mit >50% Eosinophilen im Differentialblutbild. Andere Ursachen für das Ödem waren nicht zu finden. Der ELISA für Toxocariasis ergab einen hohen Titer von >1:4 096. Hinken und Lymphödem verschwanden im Verlauf von drei Wochen. Wir verweisen auf die Möglichkeit einer Toxocariasis als mögliche Ursache für Lymphödem und Eosinophilie bei kleinen Kindern.

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Lymphödem als Primärsymptom einer Toxocariasis

     

Antidepressant effects of nicotine in an animal model of depression

Epidemiological studies indicate a high incidence of cigarette smoking among depressed individuals. Moreover, individuals with a history of depression have a much harder time giving up smoking. It has been postulated that smoking may reflect an attempt at self-medication with nicotine by these individuals. Although some animal and human studies suggest that nicotine may act as an antidepressant, further verification of this hypothesis and involvement of nicotinic cholinergic system in depressive symptoms is required. Flinders Sensitive Line (FSL) rats have been proposed as an animal model of depression. These rats, selectively bred for their hyperresponsiveness to cholinergic stimulation, show an exaggerated immobility in the forced swim test compared to their control Flinders Resistant Line (FRL) rats. Acute or chronic (14 days) administration of nicotine (0.4 mg/kg SC) significantly improved the performance of the FSL but not the FRL rats in the swim test. The effects of nicotine on swim test were dissociable from its effects on locomotor activity. Moreover, the FSL rats had significantly higher [³H]cytisine binding (selective for the α₄β₂ nicotinic receptor subtype) but not [¹²⁵I]alpha-bungarotoxin binding (selective for the α₇ subtype) in the frontal cortex, striatum, midbrain and colliculi compared to FRL rats. These data strongly implicate the involvement of central nicotinic receptors in the depressive characteristics of the FSL rats, and suggest that nicotinic agonists may have therapeutic benefits in depressive disorders. Received: 9 June 1998/Final version: 6 August 1998