keyword
https://read.qxmd.com/read/38498292/early-onset-epileptic-and-developmental-encephalopathy-and-mogs-variants-a-new-diagnosis-in-the-whole-exome-sequencing-wes-era-report-of-a-new-patient-and-review-of-the-literature
#1
JOURNAL ARTICLE
Federica Teutonico, Clara Volpe, Alice Proto, Ilaria Costi, Ugo Cavallari, Paola Doneda, Maria Iascone, Luisella Sturiale, Rita Barone, Stefano Martinelli, Aglaia Vignoli
Mannosyl-oligosaccharide glucosidase - congenital disorder of glycosylation (MOGS-CDG) is determined by biallelic mutations in the mannosyl-oligosaccharide glucosidase (glucosidase I) gene. MOGS-CDG is a rare disorder affecting the processing of N-Glycans (CDG type II) and is characterized by prominent neurological involvement including hypotonia, developmental delay, seizures and movement disorders. To the best of our knowledge, 30 patients with MOGS-CDG have been published so far. We described a child who is compound heterozygous for two novel variants in the MOGS gene...
March 18, 2024: Neurogenetics
https://read.qxmd.com/read/38058628/effectiveness-of-the-forced-usage-of-alternative-digital-platforms-during-the-covid-19-pandemic-in-project-communication-management
#2
JOURNAL ARTICLE
Sigal Kordova, Ron S Hirschprung
The COVID-19 pandemic social distancing forced a shift from Face-to-Face (F2F) to virtual work sessions, applying innovative digital tools. These tools have previously been neglected, mainly due to a conservative approach or prioritization. Consequently, their effectiveness was never tested in depth. While applying these innovative digital tools during the COVID-19 pandemic was clearly preferable to shutting down organizational activity, managers and workers recognized the advantages of these alternatives and tended to apply them in the post-COVID-19 period...
November 2023: Heliyon
https://read.qxmd.com/read/38001308/characteristics-and-outcomes-in-children-with-congenital-central-hypoventilation-syndrome-on-long-term-mechanical-ventilation-in-the-netherlands
#3
JOURNAL ARTICLE
E E Evers-Bikker, W de Weerd, P J Wijkstra, L Corel, L P Verweij, B A H Vosse
UNLABELLED: Congenital central hypoventilation syndrome (CCHS) is a rare condition characterized by central hypoventilation, leading to the majority of patients being dependent on ventilatory support during sleep. This condition is often accompanied by various associated symptoms, due to a PHOX2B gene variant involved in neuronal crest cell migration. This study is the first to review the characteristics and outcomes in children with CCHS on long-term mechanical ventilation in the Netherlands...
November 25, 2023: European Journal of Pediatrics
https://read.qxmd.com/read/36694481/a-case-of-jejunal-atresia-associated-with-heterotrophic-pancreas-and-meckel-s-diverticulum
#4
Chava Aravind Kumar, Chandrashekhar Mahakalkar
Apart from meconium ileus, amniotic fluid plug syndrome, malrotation of the gut, Hirschprung's disorder, trauma, and other rare causes, bowel atresia is one of the most common causes of bowel obstruction in newborns. Jejunal atresia can affect multiple lengths of the bowel. The higher the level of atresia, the greater the severity. The outcome of bowel atresia related to surgical repair is favorable. In general, both mortality and morbidity are affected by affiliated medical conditions such as preterm birth, cystic fibrosis, and other congenital anomalies; the sophistication of the lesion; and surgical complications...
December 2022: Curēus
https://read.qxmd.com/read/36447679/diverticulitis-and-diverticulosis-of-the-appendix-a-case-series
#5
JOURNAL ARTICLE
Omotara Kafayat Lesi, Spencer Probert, Muhammad Rafaih Iqbal, Obiora Mann Ajuluchukwu, Mojolaoluwa Olugbemi, Noreen Rasheed, Bryony Lovett, Philip Idaewor, Dennis Wayne Chicken, Abdalla Saad Abdalla Al-Zawi
Introduction Diverticula of the appendix is a rare entity, may be complicated by inflammation/infection, and clinically mimics acute appendicitis. The reported associated risk factors include male gender, Hirschprung's disease, cystic fibrosis and adult age, where some reports claim that they are also associated with an increased risk of appendiceal malignancy. Imaging has a place in pre-operative diagnosis, however, most of the cases were diagnosed during a pathological examination after surgery. They are associated with a higher rate of perforation (more than four times compared with classical acute appendicitis)...
October 2022: Curēus
https://read.qxmd.com/read/35752652/a-model-for-cell-proliferation-in-a-developing-organism
#6
JOURNAL ARTICLE
Philip K Pollett, Laleh Tafakori, Peter G Taylor
In mathematical biology, there is a great deal of interest in producing continuum models by scaling discrete agent-based models governed by local stochastic rules. We discuss a particular example of this approach: a model for the proliferation of neural crest cells that can help us understand the development of Hirschprung's disease, a potentially-fatal condition in which the enteric nervous system of a new-born child does not extend all the way through the intestine and colon. Our starting point is a discrete-state, continuous-time Markov chain model proposed by Hywood et al...
June 25, 2022: Journal of Mathematical Biology
https://read.qxmd.com/read/35495386/adult-hirschprung-s-disease-diagnosed-postoperatively-a-case-report
#7
Rami Anadani, Abdallah Aladna, Sura Radwan, Zainab Zeino, Farah Albakkar, Ahmad Aljaber, Nihad Mahli
BACKGROUND: Hirschprung's Disease (HD) is a congenital disease where the ganglion cells that innervate the colon fail to migrate. Most cases are diagnosed during childhood, however, in rare cases it can go unnoticed until adulthood. CASE PRESENTATION: We present a case of a 40-year-old-man who had been managing his chronic constipation with an atypical diet, until he was diagnosed with HD following an emergent abdominal surgery due to unresolved constipation. His diagnosis was delayed mainly out of fear of medical procedures...
April 2022: Annals of Medicine and Surgery
https://read.qxmd.com/read/34993837/clinical-significance-and-biological-effect-of-zfas1-in-hirschsprung-s-disease-and-preliminary-exploration-of-its-underlying-mechanisms-using-integrated-bioinformatics-analysis
#8
JOURNAL ARTICLE
Yujiao Wang, Peng Cai, Jian Wang
BACKGROUND: The pathogenesis of Hirschprung's disease (HSCR) remains largely unknown. The lncRNA ZNFX1 antisense RNA 1 (ZFAS1) has been found to have vital regulatory roles in a number of diseases. However, the association between ZFAS1 and HSCR has not been reported. AIMS: The present study was aimed at investigating the expression pattern and biological function and underlying mechanisms of ZFAS1 in HSCR. METHODS: The expression of ZFAS1 was detected in surgical excision samples of 30 children diagnosed with HSCR and 30 control cases...
January 6, 2022: Irish Journal of Medical Science
https://read.qxmd.com/read/34987852/multiple-endocrine-neoplasia-2a-presenting-in-a-family-with-a-history-of-hirschprung-s-disease
#9
Allison M Johns, Angela H Vuong, Omer A Hassan, Reese W Randle, Matthew A Gorris
Hirschprung's disease co-occurs with multiple endocrine neoplasia type 2A infrequently but at a higher rate with certain RET mutations. We present a case of a patient evaluated for an adrenal incidentaloma with a history of familial Hirschprung's. Our patient was found to have synchronous pheochromocytoma and medullary thyroid carcinoma illustrating the importance of genetic testing in these patients to determine appropriate screening for endocrine tumors.
November 2021: Oxford Medical Case Reports
https://read.qxmd.com/read/34392183/factors-affecting-higher-readmission-rates-and-costs-in-pediatric-patients-with-hirschsprung-disease
#10
JOURNAL ARTICLE
Anthony R Pecoraro, Chelsea E Hunter, William E Bennett, Troy A Markel
BACKGROUND: Hirschsprung disease is a relatively uncommon disorder of the developing gastrointestinal tract that requires surgical intervention to restore long-term function. While readmission for Hirschsprung-related complications is a known concern in these patients, we sought to identify patient-level factors associated with a prolonged hospital stay, increased costs at the time of a pull-through operation, as well as the risk for all-cause inpatient readmission after surgery. We hypothesized that higher level of care requirement during the operative stay, age at operation, and length of stay (LOS) would portend increased readmissions and disease-related complications such as Hirschsprung-associated enterocolitis...
December 2021: Journal of Surgical Research
https://read.qxmd.com/read/34226882/prediction-model-for-the-spread-of-the-covid-19-outbreak-in-the-global-environment
#11
JOURNAL ARTICLE
Ron S Hirschprung, Chen Hajaj
COVID-19 has long become a worldwide pandemic. It is responsible for the death of over two million people and posed an economic recession. This paper studies the spread pattern of COVID-19, aiming to establish a prediction model for this event. We harness Data Mining and Machine Learning methodologies to train regression models to predict the number of confirmed cases in a spatial-temporal space. We introduce an innovative concept ‒ the Center of Infection Mass (CoIM) ‒ adapted from the field of physics...
July 2021: Heliyon
https://read.qxmd.com/read/34051446/complication-of-hirschsprung-s-disease-immediately-after-pregnancy-a-rare-case-report
#12
William Sergi, Francesco Serra, Giovanni Cucciarrè, Nicola De Ruvo, Roberta Gelmini
INTRODUCTION AND IMPORTANCE: Hirschprung's disease (HD) is a rare congenital colonic disorder that may develop in adult age, often determining a poor life quality with complications needing an emergency surgical setting. The disease rarely presents as an acute intestinal obstruction like SV, which represents an abdominal emergency issue. CASE PRESENTATION: A few days after discharge from gynecology unit because of her first childbirth, a young woman with HD developed colonic obstruction due to sigmoid volvulus, which was treated with Hartmann's procedure...
April 15, 2021: International Journal of Surgery Case Reports
https://read.qxmd.com/read/34012823/congenital-central-hypoventilation-syndrome-in-neonates-report-of-fourteen-new-cases-and-a-review-of-the-literature
#13
JOURNAL ARTICLE
Mei Mei, Lin Yang, Yulan Lu, Laishuan Wang, Guoqiang Cheng, Yun Cao, Chao Chen, Liling Qian, Wenhao Zhou
Background: Congenital central hypoventilation syndrome (CCHS) is a rare autosomal dominant disorder caused by pathogenic variants in paired-like homeobox 2B ( PHOX2B ) gene. Characteristics of neonatal-onset CCHS cases have not been well assessed. The aim of this study is to expand current knowledge of clinical and genetic features of neonates with CCHS and provide data on the genotype-phenotype correlation. Methods: We made a retrospective analysis of 14 neonates carrying PHOX2B pathogenic variants from 2014 to 2019 and we reviewed previously published neonatal-onset cases...
April 2021: Translational Pediatrics
https://read.qxmd.com/read/33865195/adult-hirschsprung-s-disease-a-case-report-and-literature-review
#14
Christopher Gamez, Theunis Otte de Boer, Nidia Saca, Landry Umbu, Sameh Shoukry, Penelope Mashburn, Peter M DeVito
INTRODUCTION & IMPORTANCE: Adult Hirschsprung's disease (AHD) is a difficult diagnosis to make due to its rarity, frequently after emergency interventions have been conducted. We present a case of possible AHD and sketch a classic presentation of Adult Hirschsprung's Disease. This would help recognize and include AHD in the differential diagnoses of chronic constipation where appropriate. CASE PRESENTATION: The case involved a 41-year-old male with a history of multiple abdominal surgeries for volvuli and a ventral hernia repair complicated by post-operative SBO...
April 10, 2021: International Journal of Surgery Case Reports
https://read.qxmd.com/read/33812987/multiple-endocrine-neoplasia-type-2-a-review
#15
REVIEW
Jes Sloth Mathiesen, Grigoris Effraimidis, Maria Rossing, Åse Krogh Rasmussen, Lise Hoejberg, Lars Bastholt, Christian Godballe, Peter Oturai, Ulla Feldt-Rasmussen
Multiple endocrine neoplasias are rare hereditary syndromes some of them with malignant potential. Multiple endocrine neoplasia type 2 (MEN 2) is an autosomal dominant hereditary cancer syndrome due to germline variants in the REarranged during Transfection (RET) proto-oncogene. There are two distinct clinical entities: MEN 2A and MEN 2B. MEN 2A is associated with medullary thyroid carcinoma (MTC), phaeochromocytoma, primary hyperparathyroidism, cutaneous lichen amyloidosis and Hirschprung's disease and MEN 2B with MTC, phaeochromocytoma, ganglioneuromatosis of the aerodigestive tract, musculoskeletal and ophthalmologic abnormalities...
February 2022: Seminars in Cancer Biology
https://read.qxmd.com/read/33558593/automatic-ganglion-cell-detection-for-improving-the-efficiency-and-accuracy-of-hirschprung-disease-diagnosis
#16
JOURNAL ARTICLE
Ariel Greenberg, Asaf Aizic, Asia Zubkov, Sarah Borsekofsky, Rami R Hagege, Dov Hershkovitz
Histopathologic diagnosis of Hirschsprung's disease (HSCR) is time consuming and requires expertise. The use of artificial intelligence (AI) in digital pathology is actively researched and may improve the diagnosis of HSCR. The purpose of this research was to develop an algorithm capable of identifying ganglion cells in digital pathology slides and implement it as an assisting tool for the pathologist in the diagnosis of HSCR. Ninety five digital pathology slides were used for the construction and training of the algorithm...
February 8, 2021: Scientific Reports
https://read.qxmd.com/read/33234331/novel-variants-in-ednrb-gene-in-waardenburg-syndrome-type-ii-and-sox10-gene-in-pcwh-syndrome
#17
JOURNAL ARTICLE
Lukas Varga, Daniel Danis, Jakub Drsata, Ivica Masindova, Martina Skopkova, Zuzana Slobodova, Viktor Chrobok, Milan Profant, Daniela Gasperikova
Waardenburg syndrome (WS) is a clinically and genetically heterogeneous group of inherited disorders manifesting with sensorineural hearing loss and pigmentary anomalies. Here we present two Caucasian families with novel variants in EDNRB and SOX10 representing both sides of phenotype spectrum in WS. The c.521G>A variant in EDNRB identified in Family 1 leads to disruption of the cysteine disulfide bridge between extracellular segments of endothelin receptor type B and causes relatively mild phenotype of WS type II with low penetrance...
November 13, 2020: International Journal of Pediatric Otorhinolaryngology
https://read.qxmd.com/read/32341092/rare-association-of-beckwith-wiedemann-syndrome-with-hirschsprung-s-disease-in-an-infant-with-hypoglycemia
#18
JOURNAL ARTICLE
Nikhil Shah, Anuradha Khadilkar, Vaman Khadilkar, Sagar Lad
Hypoglycaemic due to congenital hyperinsulinism in Beckwith-Wiedemann syndrome is commonly seen. It is usually transient and is managed by enteral feeds, high glucose-containing intravenous fluids and medications like diazoxide. We describe a case of an infant with genetically proven Beckwith-Wiedemann syndrome with prolonged hyperinsulinemic hypoglycaemia. Despite treatment with high glucose-containing intravenous fluids, diazoxide and octreotide, her hypoglycaemia persisted. In addition to this, she also developed features of intestinal obstruction, which further complicated the management of hypoglycaemia...
April 26, 2020: BMJ Case Reports
https://read.qxmd.com/read/32055733/selectivity-in-posting-on-social-networks-the-role-of-privacy-concerns-social-capital-and-technical-literacy
#19
JOURNAL ARTICLE
Hadas Schwartz-Chassidim, Oshrat Ayalon, Tamir Mendel, Ron Hirschprung, Eran Toch
People's posting behaviors in social networks was perceived as ambiguous, with concerns misaligned with people's public postings. To address this gap, we suggest a model that offers new insights into the relationship between perceptions and actual behaviors. We define a quantitative marker for agility, the frequency in which people update their audience selection when posting information in online social networks, and evaluate the factors that contribute to the variability of agility between different users...
February 2020: Heliyon
https://read.qxmd.com/read/32039977/genetic-counseling-for-fetal-gastrointestinal-anomalies
#20
REVIEW
Erica Schindewolf, Julie S Moldenhauer
PURPOSE OF REVIEW: Congenital gastrointestinal anomalies are common findings with relatively established methods of treatment. However, the genetic cause of how these defects occur and how that may impact a child's lifelong care is less established. Genetic testing has improved significantly in recent years, yet reviews documenting prenatal genetic counseling and testing guidelines have not been comprehensively updated. RECENT FINDINGS: Congenital anomalies of the foregut, such as tracheoesophageal fistula carry a high association with genetic disorders, both in isolation and syndromic forms...
April 2020: Current Opinion in Obstetrics & Gynecology
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