congenital defects
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Author(s):  
Cheryl S Rosenfeld

Abstract Opioid drugs are analgesics increasingly being prescribed to control pain associated with a wide range of causes. Usage of pregnant women has dramatically increased in the past decades. Neonates born to these women are at risk for neonatal abstinence syndrome (NAS, also referred termed neonatal opioid withdrawal syndrome, NOWS). Negative birth outcomes linked with maternal opioid use disorder include compromised fetal growth, premature birth, reduced birthweight, and congenital defects. Such infants require lengthier hospital stays necessitating rising health care costs, and they are at greater risk for neurobehavioral and other diseases. Thus, it is essential to understand the genesis of such disorders. As the primary communication organ between mother and conceptus, the placenta itself is susceptible to opioid effects but may be key to understanding how these drugs affect long-term offspring health and how poor health outcomes may be ameliorated in utero. In this review, we will consider the evidence that placental responses are regulated through an endogenous opioid system. However, maternal consumption of opioid drugs can also bind and act through opioid receptors express by trophoblast (TB) cells of the placenta. Thus, we will also discuss the current human and rodent studies that have examined the effects of opioids on the placenta. These drugs might affect placental hormones associated with maternal recognition of pregnancy, including placental lactogens and human chorionic gonadotropin (hCG) in rodents and humans, respectively. A further understanding of how such drugs affect the placenta may open up new avenues for early diagnosis and remediation approaches.


Author(s):  
Francesca Romana Prandi ◽  
Federica Illuminato ◽  
Chiara Galluccio ◽  
Marialucia Milite ◽  
Massimiliano Macrini ◽  
...  

Left ventricular non-compaction (LVNC) is a rare congenital cardiomyopathy caused by arrest of normal endomyocardial embryogenesis and characterized by the persistence of ventricular hypertrabeculation, isolated or associated to other congenital defects. A 33-year-old male, with family history of sudden cardiac death (SCD), presented to our ER with typical chest pain and was diagnosed with anterior STEMI. Coronary angiography showed an anomalous origin of the circumflex artery from the right coronary artery and a critical stenosis on the proximal left anterior descending artery, treated with primary percutaneous coronary intervention. The echocardiogram documented left ventricular severe dysfunction with lateral wall hypertrabeculation, strongly suggestive for non-compaction, confirmed by cardiac MRI. At 3 months follow up, for the persistence of the severely depressed EF (30%) and the family history for SCD, the patient underwent subcutaneous ICD (sICD) implantation for primary prevention. To the best of our knowledge, this is the first case of LVNC associated with anomalous coronary artery origin and STEMI reported in the literature. Arrhythmias are common in LVNC due to endocardial hypoperfusion and fibrosis. sICD overcomes the risks of transvenous ICD, and it is a valuable option when there is no need for pacing therapy for bradycardia, cardiac resynchronization therapy and anti-tachycardia pacing.


2022 ◽  
Vol 7 (1) ◽  
Author(s):  
Sumati Sundaram ◽  
Todd Jensen ◽  
Tina Roffidal ◽  
Karissa Paquin ◽  
Heather Wanczyk ◽  
...  

AbstractDiseases of the esophagus, damage of the esophagus due to injury or congenital defects during fetal esophageal development, i.e., esophageal atresia (EA), typically require surgical intervention to restore esophageal continuity. The development of tissue engineered tubular structures would improve the treatment options for these conditions by providing an alternative that is organ sparing and can be manufactured to fit the exact dimensions of the defect. An autologous tissue engineered Cellspan Esophageal ImplantTM (CEI) was surgically implanted into piglets that underwent surgical resection of the esophagus. Multiple survival time points, post-implantation, were analyzed histologically to understand the tissue architecture and time course of the regeneration process. In addition, we investigated CT imaging as an “in-life” monitoring protocol to assess tissue regeneration. We also utilized a clinically relevant animal management paradigm that was essential for long term survival. Following implantation, CT imaging revealed early tissue deposition and the formation of a contiguous tissue conduit. Endoscopic evaluation at multiple time points revealed complete epithelialization of the lumenal surface by day 90. Histologic evaluation at several necropsy time points, post-implantation, determined the time course of tissue regeneration and demonstrated that the tissue continues to remodel over the course of a 1-year survival time period, resulting in the development of esophageal structural features, including the mucosal epithelium, muscularis mucosae, lamina propria, as well as smooth muscle proliferation/migration initiating the formation of a laminated adventitia. Long term survival (1 year) demonstrated restoration of oral nutrition, normal animal growth and the overall safety of this treatment regimen.


Author(s):  
Hongli Jin ◽  
Yujie Bai ◽  
Jianzhong Wang ◽  
Cui Jiao ◽  
Di Liu ◽  
...  

The emergence of Zika virus (ZIKV) infection, which is unexpectedly associated with congenital defects, has prompted the development of safe and effective vaccines. The gram-positive enhancer matrix-protein anchor (GEM-PA) display system has emerged as a versatile and highly effective platform for delivering target proteins for vaccines. In this article, we developed a bacterium-like particle vaccine ZI-△-PA-GEM based on the GEM-PA system. The fusion protein ZI-△-PA, which contains the prM-E-△ protein of ZIKV (with a stem-transmembrane region deletion) and the protein anchor PA3, was expressed. The fusion protein was successfully displayed on the GEM surface, forming ZI-△-PA-GEM. Moreover, when BALB/c mice were immunized intramuscularly with ZI-△-PA-GEM combined with 201 VG and poly(I:C) adjuvants, durable ZIKV-specific IgG and protective neutralizing antibody responses were induced. Potent B cell/DC activation was also be stimulated early after immunization. Remarkably, splenocyte proliferation, the secretion of multiple cytokines, T/B cell activation and central memory T cell responses were elicited. These data indicate that ZI-△-PA-GEM is a promising bacterium-like particle vaccine candidate for ZIKV.


2022 ◽  
Vol 50 (1) ◽  
pp. 80-84
Author(s):  
Mahshid Movahedi ◽  
Mahnaz Jamee ◽  
Hosseinali Ghaffaripour ◽  
Farzad Noori ◽  
Mehdi Ghaini ◽  
...  

Background: Inborn errors of immunity (IEIs) are a group of congenital diseases caused by genetic defects in the development and function of the immune system. The involvement of the respiratory tract is one of the most common presentations in IEIs.Methods: Overall, 117 patients with diagnosed IEIs were followed-up within 8 years at the National Research Institute of Tuberculosis and Lung Diseases (NRITLD). Demographic, clinical, and laboratory data were collected in a questionnaire. Pulmonary function test (PFT), chest X-ray (CXR), and high-resolution computed tomography (HRCT) scans were obtained where applicable.Results: Our study population consisted of 48 (41%) patients with predominantly antibody deficiencies (PADs), 39 (32%) patients with congenital defects of phagocytes, 14 (11.9%) patients with combined immunodeficiency (CID), and 16 (14%) patients with Mendelian susceptibility to mycobacterial diseases (MSMD). . Recurrent pneumonia was the most common manifestation, while productive cough appeared to be the most common symptom in almost all diseases. PFT showed an obstructive pattern in patients with PAD, a restrictive pattern in patients with CID, and a mixed pattern in patients with CGD. HRCT findings were consistent with bronchiectasis in most PAD patients, whereas consolidation and mediastinal lesions were more common in the other groups.Conclusions: Pulmonary manifestations vary among different groups of IEIs. The screening for lung complications should be performed regularly to reveal respiratory pathologies in early stages and follow-up on already existing abnormalities.


2022 ◽  
pp. 165-182
Author(s):  
Paloma Acacia Guzman-Garcia ◽  
Efrain Orozco-Quintana ◽  
Diego Sepulveda-Gonzalez ◽  
Alexis Cooley-Magallanes ◽  
Daniela Salas-Velazquez ◽  
...  

Hypothyroidism is a condition characterized by a deficit of thyroid hormones that leads to a low metabolic rate, typically associated with lethargy. The causes are diverse and may vary from congenital defects and autoimmune disorders to iodine deficiency, the latter being easily preventable with the appropriate strategies. For this chapter, the authors documented a social media awareness campaign via Instagram, whose purpose was to do popular science about hypothyroidism's symptoms to promote early detection and prevention. This campaign took place from October to November 2020 amid the COVID-19 pandemic. The campaign consisted of informative posts and engaged the audience via questionnaires through Instagram stories. Lastly, an online questionnaire was shared to assess the gained knowledge of the viewers and evaluate the campaign's efficacy. The social media awareness campaign showed to be a feasible way to educate the community, enabling efficient health promotion strategies through digital platforms.


2021 ◽  
Vol 5 (9) ◽  
pp. RV9-RV11
Author(s):  
Sumit Ghosh ◽  
Nirankar Dev ◽  
David Matthews

5-HT3 antagonists appear to be an effective treatment option in the treatment of nausea and vomiting associated with pregnancy. Literature suggests an increased risk of congenital defects in fetuses exposed to ondansetron during pregnancy, especially during first trimester. Health authorities now suggest that this drug should not be used during this period. However, this decision is debatable and whether ondansetron can be used in pregnant women is still controversial.


2021 ◽  
Vol 3 (1) ◽  
pp. 25
Author(s):  
Rini Ayu Rismawati ◽  
Widya Maya Ningrum

Masalah gizi di Indonesia masih merupakan masalah kesehatan masyarakat yang utama Salah satu masalah kekurangan gizi di Indonesia yaitu Kekurangan Energi Kronis (KEK). KEK adalah keadaan seseorang yang menderita kekurangan makanan yang berlangsung menahun (kronis) yang ditandai dengan lingkar lengan atas (LILA) < 23,5 cm sehingga mengakibatkan timbulnya gangguan kesehatan. KEK selama hamil akan menimbulkan masalah, salah satunya dapat mempengaruhi proses pertumbuhan janin yang dapat menimbulkan abortus, bayi lahir mati, kematian neonatal, cacat bawaan, anemia pada bayi, asfiksia intra partum, lahir dengan bayi berat lahir rendah (BBLR). Penelitian ini adalah untuk mengetahui Gambaran Luaran Bayi Pada Ibu Dengan Riwayat Kekurangan Energi Kronis (KEK) Di Wilayah Kerja Puskesmas Sadananya, Tahun 2020. Menggunakan penelitian deskriptif dengan uji SPSS. Ibu hamil yang mengalami KEK di dapatkan yang mengalami abortus, sebanyak 5 orang (33,3 %), ibu hamil yang mengalami KEK di dapatkan yang mengalami bayi lahir mati tidak ada, ibu hamil yang mengalami KEK di dapatkan bayi yang mengalami kematian neonatal tidak ada, ibu hamil yang mengalami KEK di dapatkan bayi yang mengalami asfiksia, sebanyak 1 orang (6,7 %), ibu hamil yang mengalami KEK di dapatkan bayi yang mengalami BBLR, sebanyak 9 orang (60,0 %), ibu hamil yang mengalami KEK di dapatkan bayi yang mengalami kelainan kongenital, sebanyak 1 orang (6,7 %) Berdasarkan hasil penelitian dapat disimpulkan bahwa luaran bayi pada ibu hamil yang mengalami KEK sebagian besar tidak beresiko hanya beberapa kejadian saja yang memang terdapat resiko yaitu abortus dan BBLR.Dengan adanya penelitian ini diharapkan kejadian KEK terhadap ibu hamil bisa teratasi dengan baik dan tidak lagi menimbulkan berbagai macam masalah bagi bayi.Nutrition problems in Indonesia are still a major public health problem. One of the problems of malnutrition in Indonesia is Chronic Energy Deficiency (CED). CED is a condition of a person who suffers from a chronic (chronic) shortage of food characterized by a circumference of the upper arm (CUA) <23.5 cm, resulting in health problems. CED during pregnancy will cause problems, one of which can affect the process of fetal growth which can cause abortion, stillbirth, neonatal death, congenital defects, anemia in infants, intra-partum asphyxia, birth with low birth weight babie (LBW). This study was to find out the description of infant outcome in mothers with a history of chronic energy deficiency (CED) in Sadananya Community Health Center working area, 2020. Using descriptive research with SPSS test It is found that there are 5 Pregnant women (33.3%) having CED had abortion. 70 (100%) babies were born alive to mothers who have CED. There are 70 (100%) babies were born alive from mothers who have CED. There is one mother with CED gets baby with asphyxia (6.7%). There are 9 pregnant women (60.0%) pregnant women with CED gets babies with LBW. There is one pregnant woman with CED (6.7%) had baby with congenital defect. Based on the results of the study, it can be concluded that the infant output in pregnant women who have CED is mostly not at risk. Only a few cases do have a risk, namely abortion and LBW. This research is expected to resolve the case of CED in pregnant women properly and there will be no longer various kinds of problems for babies.


2021 ◽  
pp. 41-44
Author(s):  
L. G. Kudryavtseva ◽  
P. V. Lazarkov ◽  
V. I. Sergevnin

Purpose of the study. Comparative assessment of the incidence of nosocomial purulent-septic infections (PSI) in children after open and closed heart surgery for congenital defects.Materials and methods. 503 medical records of children after cardiac surgery were studied. GSI was identified according to epidemiological standard case definitions.Results. It turned out that the incidence rate of PSI in children after open heart surgery is an order of magnitude higher than after minimally invasive endovascular interventions. Hospital-acquired pneumonia most often occurs in children after operations.Conclusion. The increased incidence of PSI after open heart surgery, as compared to endovascular surgery, is due to a longer surgical intervention and the subsequent longer stay of patients in the intensive care unit, where such an epidemiologically significant procedure as artificial lung ventilation is performed.


2021 ◽  
Vol 10 (24) ◽  
pp. 5916
Author(s):  
Katarzyna B. Cywka ◽  
Henryk Skarżyński ◽  
Bartłomiej Król ◽  
Piotr H. Skarżyński

Background: the Bonebridge hearing implant is an active transcutaneous bone conduction implant suitable for various types of hearing loss. It was first launched in 2012 as the BCI 601, with a newer internal part (BCI 602) released in 2019. With the new size and shape, the BCI 602 can be used in patients previously excluded due to insufficient anatomical conditions, especially in patients with congenital defects of the outer and middle ear. Objectives: the purpose of this study is to evaluate the objective and subjective benefits of the new Bonebridge BCI 602 in children who have hearing impairment due to conductive or mixed hearing loss. Safety and effectiveness of the device was assessed. Methods: the study group included 22 children aged 8–18 years (mean age 14.7 years) who had either conductive or mixed hearing loss. All patients were implanted unilaterally with the new Bonebridge BCI 602 implant. Pure tone audiometry, speech recognition tests (in quiet and noise), and free-field audiometry were performed before and after implantation. Word recognition scores were evaluated using the Demenko and Pruszewicz Polish Monosyllabic Word Test, and speech reception thresholds in noise were assessed using the Polish Sentence Matrix Test. The subjective assessment of benefits was carried outusing the APHAB (Abbreviated Profile of Hearing Aid Benefit) questionnaire. Results: after implantation of the Bonebridge BCI 602 all patients showed a statistically significant improvement in hearing and speech understanding. The mean word recognition score (WRS) changed from 12.1% before implantation to 87.3% after 6 months. Mean speech reception threshold (SRT) before implantation was +4.79 dB SNR and improved to −1.29 dB SNR after 6 months. All patients showed stable postoperative results. The APHAB questionnaire showed that difficulties in hearing decreased after implantation, with a statistically significant improvement in global score. Pre-operative scores (M = 35.7) were significantly worse than post-operative scores at 6 months (M = 25.7). Conclusions: the present study confirms that the Bonebridge BCI 602 is an innovative and effective solution, especially for patients with conductive and mixed hearing loss due to anatomical ear defects. The Bonebridge BCI 602 system provides valuable and stable audiological and surgical benefits. Subjective assessment also confirms the effectiveness of the BCI 602. The BCI 602 offers the same amplification as the BCI601, but with a smaller size. The smaller dimensions make it an effective treatment option for a wider group of patients, especially children with congenital defects of the outer and middle ear.


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