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JOURNAL ARTICLE
Carlo Alberto Cesaroni, Gianluca Contrò, Carlotta Spagnoli, Federica Cancelliere, Stefano Giuseppe Caraffi, Alberta Leon, Camilla Stefanini, Daniele Frattini, Susanna Rizzi, Anna Cavalli, Livia Garavelli, Carlo Fusco
Aminoacyl-tRNA synthetases (ARSs) aminoacylate tRNA molecules with their cognate amino acid, enabling information transmission and providing substrates for protein biosynthesis. They also take part in nontranslational functions, mediated by the presence of other proteins domains. Mutations in ARS genes have been described as responsive to numerous factors, including neurological, autoimmune, and oncological. Variants of the ARS genes, both in heterozygosity and homozygosity, have been reported to be responsible for different pathological pictures in humankind...
April 23, 2024: Neurogenetics
#2
JOURNAL ARTICLE
Zhong-Die Li, Yu-Chuan Li, Jing-Zhao, Jian-She Wang, Xin-Bao Xie
BACKGROUND: Clinical studies on progressive familial intrahepatic cholestasis (PFIC) type 5 caused by mutations in NR1H4 are limited. METHODS: New patients with biallelic NR1H4 variants from our center and all patients from literature were retrospectively analyzed. RESULTS: Three new patients were identified to be carrying five new variants. Liver phenotypes of our patients manifests as low-γ-glutamyl transferase cholestasis, liver failure and related complications...
April 19, 2024: Orphanet Journal of Rare Diseases
#3
JOURNAL ARTICLE
Yu-An Chen, Huang-Hsi Chu, Chih-Li Wang
Spinach ( Spinacia oleracea ) is a commonly used green vegetable. During September and October in both 2022 and 2023, a vegetable nursery company located among paddy rice fields in Taichung City, Taiwan, reported significant failures in spinach seedling production in net-houses with mean outdoor temperatures of 28.7℃. Abnormal growth was observed in approximately 30% of the spinach seedlings in each batch (n = 2,000 to 3,000), with aboveground tissues showing stunting, yellowing, and wilt, and underground tissues displaying root rot...
April 19, 2024: Plant Disease
#4
REVIEW
Melpomeni Bizhga, Virtut Velmishi, Lorena Sila, Albert Koja, Stiljan Hoxha
Dysphagia lusoria is a rare pediatric condition caused by extrinsic compression of the esophagus by an abnormal subclavian artery. The most common congenital abnormality in aortic arch development is an aberrant right subclavian artery. The retroesophageal right subclavian artery is typically symptomatic in 10-33% of cases. The patient, an 8-month-old girl with a history of early dysphagia and stridor, was diagnosed with an abnormal right subclavian artery. She was admitted to the pneumology service multiple times due to stridor, vomiting, and failure to thrive...
April 16, 2024: La Pediatria Medica e Chirurgica: Medical and Surgical Pediatrics
#5
JOURNAL ARTICLE
Melanie B Gillingham, Dongseok Choi, Ashley Gregor, Nida Wongchaisuwat, Danielle Black, Hannah L Scanga, Ken K Nischal, Jose-Alain Sahel, Georgianne Arnold, Jerry Vockley, Cary O Harding, Mark E Pennesi
Long chain 3-hydroxyacyl-CoA dehydrogenase (LCHADD) is the only fatty acid oxidation disorder to develop a progressive chorioretinopathy resulting in vision loss; newborn screening (NBS) for this disorder began in the United States around 2004. We compared visual outcomes among 40 participants with LCHADD or trifunctional protein deficiency diagnosed symptomatically to those who were diagnosed via NBS or a family history. Participants completed ophthalmologic testing including measures of visual acuity, electroretinograms (ERG), fundal imaging, contrast sensitivity, and visual fields...
April 16, 2024: Journal of Inherited Metabolic Disease
#6
JOURNAL ARTICLE
Saeed Ghasemi, Marzieh Mojbafan, Saeed Talebi, Nakysa Hooman, Rozita Hoseini
INTRODUCTION: Nephrogenic diabetes insipidus (NDI) is a rare genetic disease that causes water imbalance. The kidneys play a crucial role in regulating body fluids by controlling water balance through urine excretion. This highlights their essential function in managing the body's water levels, but individuals with NDI may have excess urine production (polyuria), that leads to excessive thirst (polydipsia). Untreated affected individuals may exhibit poor feeding and failure to thrive...
April 2024: Molecular Genetics & Genomic Medicine
#7
Minna L Rodrigo, Christine Heubi, Eric Chiou, Ann Scheimann
Feeding difficulties, aspiration, and failure to thrive in infancy are commonly seen in patients with Prader-Willi Syndrome (PWS) and attributed to hypotonia. Patients with PWS and laryngeal clefts were identified by review of medical records at three tertiary care children's hospitals between 2017 and 2022. We present three patients with PWS with feeding difficulties who were also found to have laryngeal clefts which likely contributed to their feeding difficulties. Additional factors such as airway anomalies should be considered in patients with PWS, especially when swallowing dysfunction, dysphagia, or abnormal swallow evaluations are present...
April 15, 2024: American Journal of Medical Genetics. Part A
#8
Trystan A Innes, Samuel R Massey, Hezborn M Magacha, Venkata Vedantam, Neethu Vedantam
This case outlines the complications of Roux-en-Y gastric bypass surgery (RYGBS) and demonstrates clinical manifestations of several vitamin deficiencies. We present a 45-year-old female patient who was admitted to our hospital with generalized weakness, anasarca, hypotension, and failure to thrive, a year after she had her RYGBS. After the procedure, she had nausea, vomiting, and diarrhea with progressive inability to tolerate any oral intake. Subsequently, the patient lost over 200 pounds and got bedridden...
March 2024: Curēus
#9
JOURNAL ARTICLE
Anna Pegoraro, Valentino Bezzerri, Gloria Tridello, Cecilia Brignole, Francesca Lucca, Emily Pintani, Cesare Danesino, Simone Cesaro, Francesca Fioredda, Marco Cipolli
Shwachman-Diamond syndrome (SDS) is one of the most common inherited bone marrow failure syndromes. SDS is characterized by hypocellular bone marrow, with a severe impairment of the myeloid lineage, resulting in neutropenia, thrombocytopenia, and, more rarely, anemia. Almost 15% of patients with SDS develop myelodysplastic syndrome or acute myeloid leukemia as early as childhood or young adulthood. Exocrine pancreatic insufficiency is another common feature of SDS. Almost all patients with SDS show failure to thrive, which is associated with skeletal abnormalities due to defective ossification...
April 5, 2024: Cancers
#10
Zaynab B Maqwar, Ammar S Alalawi
Congenital syphilis, caused by the Gram-negative obligate bacterium Treponema pallidum , can manifest as early- or late-onset infection, typically exhibiting classic symptoms such as a maculopapular rash, failure to thrive, and hepatosplenomegaly. This case report presents rare clinical manifestations of congenital syphilis not typically observed during early onset infection in a newborn in Bahrain. Additionally, it details the physical findings and investigations conducted to diagnose the disease.
March 2024: Curēus
#11
Erin G Park, Kylie Besly, Juan J Campos, Ahmed Rezk
Netherton syndrome is a rare, autosomal recessive disorder that clinically presents with a triad of congenital ichthyosiform erythroderma, hair shaft abnormalities, and immune dysregulation, which is confirmed with genetic testing for mutations in the serine protease inhibitor Kazal-type 5 (SPINK5) gene. This diagnosis was included in our differential due to the patient's recurring and unimproving rash with desquamating skin. While eczema was included in our differential diagnoses, the patient's systemic symptoms, including failure to thrive, prompted our team to consider other diagnoses...
March 2024: Curēus
#12
JOURNAL ARTICLE
Scarlett R Howard, Andrew B Barron
The thriving field of comparative cognition examines the behaviour of diverse animals in cognitive terms. Comparative cognition research has primarily focused on the abilities of animals - what tasks they can do - rather than on the limits of their cognition - tasks that exceed an animal's cognitive abilities. We propose that understanding and identifying cognitive limits is as important as demonstrating the capacities of animal minds. Here, we identify challenges that have deterred the study of cognitive limits related to epistemic, practical and publication problems...
April 8, 2024: Current Biology: CB
#13
MULTICENTER STUDY
Paola Ilaria Bianchi, Marco Vincenzo Lenti, Clarissa Petrucci, Giulia Gambini, Nicola Aronico, Matteo Varallo, Carlo Maria Rossi, Elena Pozzi, Elena Groppali, Francesca Siccardo, Giulia Franchino, Gian Vincenzo Zuccotti, Grazia Di Leo, Chiara Zanchi, Fernanda Cristofori, Ruggiero Francavilla, Marina Aloi, Giulia Gagliostro, Monica Montuori, Sara Romaggioli, Caterina Strisciuglio, Marco Crocco, Noemi Zampatti, Angela Calvi, Renata Auricchio, Costantino De Giacomo, Silvia Maria Elena Caimmi, Carolina Carraro, Annamaria Staiano, Sabrina Cenni, Mauro Congia, Enrico Schirru, Francesca Ferretti, Carolina Ciacci, Nicoletta Vecchione, Mario Andrea Latorre, Semela Resuli, Giusy Cinzia Moltisanti, Giulia Maria Abruzzese, Andrea Quadrelli, Simone Saglio, Pietro Canu, Damiano Ruggeri, Annalisa De Silvestri, Catherine Klersy, Gian Luigi Marseglia, Gino Roberto Corazza, Antonio Di Sabatino
IMPORTANCE: The extent and factors associated with risk of diagnostic delay in pediatric celiac disease (CD) are poorly understood. OBJECTIVES: To investigate the diagnostic delay of CD in childhood, and to assess factors associated with this delay. DESIGN, SETTING, AND PARTICIPANTS: Multicenter, retrospective, cross-sectional study (2010-2019) of pediatric (aged 0-18 years) patients with CD from 13 pediatric tertiary referral centers in Italy...
April 1, 2024: JAMA Network Open
#14
Pradeep Kumar Gunasekaran, Pooja Jindal, Tanuja Rajial, Varuna Vyas, Kuldeep Singh
The genetics of Down syndrome (DS) and Klinefelter syndrome (KS) are a nondisjunction of autosomal and sex chromosomes, respectively, resulting in aneuploidies. Less than 70 cases of concurrent Down-Klinefelter syndrome (DS-KS) have been reported in the literature. We report the case of a five-month-old Indian child with a rare double aneuploidy resulting in DS-KS. A five-month-old boy born to non-consanguineously married parents presented with failure to thrive and dysmorphic facies. The family history was unremarkable...
March 2024: Curēus
#15
Rola K Bsharat, Mahmoud E AbuBshara, Islam H Karajeh, Amal F Bast, Taima M Aljabari, Osama Q Qumsieh, Haytham M Abumohsen
Infantile inflammatory bowel disease (IBD) is a very rare subgroup of IBD that develops in children younger than two years with genetic susceptibility, especially in those with monogenic defects. This type, when compared with IBD in older children, is more resistant to conventional medical treatment and presents with more complications that require more surgical interventions. Our patient is a male with first-degree consanguineous parents. He was 16 months old when he presented with multiple perianal fistulas, fissures, abscesses, diarrhea, fever, and failure to thrive...
March 2024: Curēus
#16
JOURNAL ARTICLE
Can Ozlu, Souad Messahel, Berge Minassian, Saima Kayani
Mitochondrial diseases have a heterogeneous phenotype and can result from mutations in the mitochondrial or nuclear genomes, constituting a diagnostically and therapeutically challenging group of disorders. We report our center's experience with mitochondrial encephalopathies and myopathies with a cohort of 50 genetically and phenotypically diverse patients followed in the Neurology clinic over the last ten years. Seventeen patients had mitochondrial DNA mutations, presented over a wide range of ages with seizures, feeding difficulties, extraocular movements abnormalities, and had high rates of stroke-like episodes and regression...
March 28, 2024: European Journal of Paediatric Neurology: EJPN
#17
JOURNAL ARTICLE
Ashwini Prithvi, Dhrithi Kodethoor, Sushma K, Sanjiv Lewin
Osteopetrosis encompasses rare inherited metabolic bone disorders with defect in the osteoclast activity. Severe forms of presentation such as malignant infantile osteopetrosis are seen in infants and milder forms in older children. The clinical presentation includes failure to thrive, severe pallor, optic atrophy and hepatosplenomegaly. The disorder is characterised by dense bone on radiography, hence the name marble bone disease. A 10-month-old boy who presented with developmental delay, failure to thrive, nystagmus (which the mother described as wandering eye movements), splenomegaly of 16 cm and hepatomegaly of 8 cm...
April 5, 2024: Paediatrics and International Child Health
#18
Tuqa Adil Alsinan, Tariq Ibrahim Altokhais
BACKGROUND: Congenital enteric duplication cysts are tubular or cystic structures that normally lie alongside the gastrointestinal (GI) tract. Enteric duplication cysts are typically solitary lesions that occur anywhere near the GI tract from the neck to the rectum, but having multiple duplication cysts is rare, and presentation within the pancreas is extremely rare. CASE SUMMARY: We herein demonstrate a case of esophageal, gastric, and gastric-type duplication cyst of the pancreas in a seventeen-month-old girl who presented with failure to thrive, abdominal pain, vomiting, hematemesis, and melena since the age of three months...
March 16, 2024: World Journal of Clinical Cases
#19
JOURNAL ARTICLE
Mesbah Jari Alshumrani, Abdulaziz M Gammash, Basil A Alzahrani, Orjwan S Badghaish, Lama Alajlani, Atheer A Alzahrani, Albatool Ali, Mohamed E Ahmed
BACKGROUND: Failure to thrive (FTT) in pediatric populations is a diagnostic challenge with implications for growth and development. Despite its prevalence, detailed epidemiological data, especially concerning organic versus non-organic etiologies, are sparse. This study examines the prevalence, characteristics, and outcomes of organic and non-organic FTT in a pediatric outpatient setting at King Abdulaziz Medical City, Jeddah. METHODS: This retrospective chart review included pediatric patients aged three months to 14 years diagnosed with FTT at KAMC from 2016 to 2023...
March 2024: Curēus
#20
JOURNAL ARTICLE
Shobhit P Joseph, Shohiab U R Mirza, Jesu Krupa, Shruti I Varghese, Gayathri B Kartha, Oommen K George, Paul V George, John Jose, Viji S Thomson
OBJECTIVES: This retrospective study sought to determine the feasibility of transcatheter atrial septal defect device closure in patients less than 15 kg, as well as to assess complication rates and the reasons for unsuccessful device closure. BACKGROUND: In general, the risks associated with transcatheter atrial septal defect device closure are believed and reported to be relatively low, but the evidence stems from trials involving adults and older children. Current guidelines do not recommend atrial defect closure in device closure in children <15 kg, due to limited data available for feasibility and safety of device closure in this group of patients...
2024: Journal of the Saudi Heart Association
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