Pediatrics

655.3K Papers

Follow See full results

Article Clinical Neurology

Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel

Lucie Sedlackova, Katalin Sterbova, Marketa Vlckova, Pavel Seeman, Jana Zarubova, Petr Marusic, Pavel Krsek, Hana Krijtova, Alena Musilova, Petra Lassuthova

Summary: In this study, whole exome sequencing (WES) was performed to identify causal variants for developmental and epileptic encephalopathies (DEEs) in patients whose genetic diagnosis was not determined by gene panel testing. The results showed that WES can successfully identify disease-causing variants, even after inconclusive gene panel testing. Detailed clinical evaluations and phenotype-genotype correlation studies were conducted to better understand the rare subtypes of DEEs.

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2024)

Add to Collection

Article Clinical Neurology

Respiratory function in LAMA2-related muscular dystrophy and SELENON-related congenital myopathy, a 1.5-year natural history study

Karlijn Bouman, Jeroen L. M. van Doorn, Jan T. Groothuis, Peter J. Wijkstra, Baziel G. M. van Engelen, Corrie E. Erasmus, Jonne Doorduin, Nicol C. Voermans

Summary: The majority of LAMA2-MD and all SELENON-RM patients had respiratory impairment. SELENON-RM patients showed lower respiratory function which was progressive, more prevalent mechanical ventilation, and more severe diaphragm atrophy and dysfunction than LAMA2-MD patients. Spirometry (FVC%, dVC) and respiratory muscle strength tests (SNIP) are useful in clinical care and as outcome measure in clinical trials.

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2024)

Add to Collection

Article Clinical Neurology

The Clinical Characteristics and Outcomes of Infantile Seizures in the First Year of Life: A Single-Center Study

Muhamad Azamin Anuar, Muhammad'Adil Zainal Abidin, Soo Hong Tan, Cai Fong Yeap, Nor Azni Yahaya

Summary: This study conducted in Malaysia found that most infants with epilepsy can achieve seizure remission. However, poor seizure control and developmental delay are associated with abnormal EEG background and neuroimaging abnormalities.

PEDIATRIC NEUROLOGY (2024)

Add to Collection

Article Pediatrics

The Influence of Dietary Counseling Over 20 Years on Tracking of Non-High-Density Lipoprotein Cholesterol from Infancy to Young Adulthood

Yaxing Meng, Harri Niinikoski, Suvi P. Rovio, Brooklyn J. Fraser, Feitong Wu, Antti Jula, Tapani Ronnemaa, Jorma S. A. Viikari, Olli T. Raitakari, Katja Pahkala, Costan G. Magnussen

Summary: This 26-year study shows a correlation between early-life non-HDL-C levels and future levels. Early dietary counseling can reduce the risk of high pediatric non-HDL-C, emphasizing the importance of early interventions in preventing cardiovascular risks.

JOURNAL OF PEDIATRICS (2024)

Add to Collection

Article Pediatrics

Reference Values for Cardiorespiratory Fitness in Patients Aged 6 to 18 Years

Garett J. Griffith, Alan P. Wang, Robert I. Liem, Michael R. Carr, Tyler Corson, Kendra Ward

Summary: This study developed reference values for cardiorespiratory fitness in children aged 6-18 years without underlying heart disease, measured by peak oxygen uptake and treadmill time. Fitness levels increased with age in males but not females. Males generally exhibited higher fitness levels compared to females in the same age groups.

JOURNAL OF PEDIATRICS (2024)

Add to Collection

Article Pediatrics

Small Bowel Ischemia from Spontaneous Ventriculoperitoneal Shunt Knot Formation in a Pediatric Patient: A Case Report

Laquanda T. Knowlin, Makayla L. O'Guinn, Gabriel Devlin, Joo L. Song, Cathy E. Shin

Summary: In patients with acute gastrointestinal symptoms and VP shunts, small bowel ischemia caused by a knotted VP shunt should be considered. Suspicion and immediate intervention can prevent permanent intestinal injury.

JOURNAL OF PEDIATRIC SURGERY CASE REPORTS (2024)

Add to Collection

Letter Clinical Neurology

Subependymal Giant Cell Astrocytoma Tumors in Patients Without Clinical Manifestation of Tuberous Sclerosis Complex: A Diagnostic Puzzle

Bernadeta Zabielska, Natalia Rzewuska, Sergiusz Jozwiak

PEDIATRIC NEUROLOGY (2024)

Add to Collection

Article Clinical Neurology

Moyamoya Angiopathy: An Underdiagnosed Cause of Ischemic Stroke in a Tunisian Pediatric Cohort

Wafa Bouchaala, Sirine Laroussi, Yosra Mzid, Imen Maaloul, Olfa Jallouli, Salma Zouari, Sihem Ben Nsir, Zeineb Mnif, Fatma Kammoun, Chahnez Triki

Summary: Moyamoya angiopathy is a rare but serious cerebrovascular disease in children, which may result in arterial ischemic stroke. The clinical and radiological presentations can vary and are often overlooked. Early diagnosis and treatment are crucial.

PEDIATRIC NEUROLOGY (2024)

Add to Collection

Article Pediatrics

One Step Closer to Safer: Counseling Outcomes from American Academy of Pediatrics Firearm Safe Storage Education Training

Kelsey A. B. Gastineau, Rebecca Bell, Allison Hanes, Sandra Mckay, Eric Sigel, Filoteia Popescu, Evan C. Sommer, Shari Barkin

Summary: This study aimed to assess the self-reported counseling outcomes for a firearm safe storage counseling training program provided by the American Academy of Pediatrics. The results demonstrated significant improvement in counseling self-efficacy and frequency one month after the training.

JOURNAL OF PEDIATRICS (2024)

Add to Collection

Article Otorhinolaryngology

Efficacy of Audio-Video Material on Cochlear Implant in Tamil (AVMCI - T) about care, maintenance and troubleshooting

Keerthana Rajanbabu, Sakthilakshmi Gunasekaran, Heramba Ganapathy Selvarajan

INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY (2024)

Add to Collection

Article Pediatrics

Embryologic remnant of the umbilical vein presenting as an incarcerated umbilical hernia in a 6-month old: A case report

Blynn L. Shideler, Shelby R. Sferra, Roxanne L. Massoumi, Alexander V. Chalphin, Steven Stylianos

Summary: This case report describes an embryologic remnant mimicking an incarcerated umbilical hernia, highlighting the importance of surgical repair for such hernias.

JOURNAL OF PEDIATRIC SURGERY CASE REPORTS (2024)

Add to Collection

Article Otorhinolaryngology

Targeting safety: Exploring trends and risk factors in pediatric head and neck BB gun injuries and hospitalization

Thomas L. Haupt, Earl H. Harley

Summary: This study analyzed head and neck injuries caused by BB guns among children under 18 treated in US emergency departments between 1993 and 2019. It found that younger children are at increased risk of hospital admission, and injuries to the eye and neck are strong predictors of hospitalization.

INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY (2024)

Add to Collection

Article Otorhinolaryngology

ISOM 2023 Research Panel 5: Interventions- Vaccines and prevention, medical and surgical treatment, and impact of COVID-19 pandemic

Stephen I. Pelton, Saskia Hullegie, Amanda J. Leach, Paola Marchisio, Tal Marom, Vishakha Sabharwal, Nader Shaikh, Paula A. Tahtinen, Roderick P. Venekamp

Summary: This study aims to identify and synthesize key research advances in the preventative measures and medical and surgical treatment of uncomplicated otitis media (OM), as well as the impact of the COVID-19 pandemic on OM management. The study found that there have been important advances in OM management in recent years, such as the effectiveness of video discharge instructions in reducing symptoms for parents of children with acute otitis media (AOM) and the efficacy of levofloxacin solution for treating chronic suppurative otitis media.

INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY (2024)

Add to Collection

Article Otorhinolaryngology

Home sleep apnea tests: Conflicts of interest and funding

Tanya Chen, Melissa Lee, Evelyn Constantin, Joshua Gurberg, Lily HP. Nguyen

Summary: In the last two decades, there has been a high prevalence of funding and potential conflicts of interest in HSAT publications. Higher quality studies have increased in the last five years, but there still exists a lack of disclosure regarding funding or COI. There is a positive correlation between level of evidence and industry funding.

INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY (2024)

Add to Collection

Article Clinical Neurology

Children With Type 1 Spinal Muscular Atrophy Are at Increased Risk for Nephrolithiasis

Ani Gok, Seha Kamil Saygili, Sebuh Kurugoglu, Sema Saltik, Nur Canpolat

Summary: This study examines the occurrence of nephrolithiasis in children with type 1 SMA and identifies hypercalciuria and high urine specific gravity as common risk factors. The study suggests that children with SMA type 1 may have an increased risk of nephrolithiasis compared to the general population.

PEDIATRIC NEUROLOGY (2024)

Add to Collection

Review Clinical Neurology

Epilepsy and Encephalopathy

Tristan T. Sands, Jennifer N. Gelinas

Summary: This review explores the concept of epileptic encephalopathy (EE) in pediatric epilepsy, discussing the potential impact of epileptic activity on normal brain development and mechanisms underlying cognitive and behavioral impairments. The findings highlight the threat of epileptic activity to normal brain physiology and development.

PEDIATRIC NEUROLOGY (2024)

Add to Collection

Article Clinical Neurology

The Important Role of Hemispherotomy for Rasmussen Encephalitis: Clinical and Functional Outcomes

Ursula Thome, Larissa A. Batista, Renata P. Rocha, Vera C. Terra, Ana Paula A. Hamad, Americo C. Sakamoto, Antonio C. Santos, Marcelo Santos, Helio R. Machado

Summary: Rasmussen encephalitis (RE) is a characterized by pharmacoresistant epilepsy and progressive neurological deficits. Surgical disconnection of the affected hemisphere is considered the treatment of choice, although the precise etiology is still unknown. This study reports the clinical, electrographic, and neuroimaging features of children and adolescents who underwent hemispheric surgery (HS) for the treatment of RE.

PEDIATRIC NEUROLOGY (2024)

Add to Collection

Article Clinical Neurology

Real-Life Experience With Purified Cannabidiol Treatment for Refractory Epilepsy: A Multicenter Retrospective Study

Michal Tzadok, Rotem Gur-Pollack, Hadar Florh, Yael Michaeli, Tal Gilboa, Mirit Lezinger, Eli Heyman, Veronika Chernuha, Irina Gudis, Andreea Nissenkorn, Tally Lerman-Sagie, Bruria Ben Zeev, Shimrit Uliel-Sibony

Summary: Purified CBD is well-tolerated and effective in reducing seizure frequency in children and young adults with drug-resistant epilepsy.

PEDIATRIC NEUROLOGY (2024)

Add to Collection

Article Pediatrics

Tracking of Cardiorespiratory Fitness from Childhood to Mid-adulthood

Jia Guo, Brooklyn J. Fraser, Leigh Blizzard, Michael D. Schmidt, Terence Dwyer, Alison J. Venn, Costan G. Magnussen

Summary: There is a correlation between childhood and adulthood cardiorespiratory fitness.

JOURNAL OF PEDIATRICS (2024)

Add to Collection

Article Pediatrics

Blood Pressure Outcomes in NICU-Admitted Infants with Neonatal Hypertension: A Pediatric Nephrology Research Consortium Study

Nianzhou Xiao, Michelle Starr, Adrienne Stolfi, Gilad Hamdani, Shireen Hashmat, Stefan G. Kiessling, Christina Sethna, Mahmoud Kallash, Robyn Matloff, Robert Woroniecki, Keia Sanderson, Ikuyo Yamaguchi, Stephen D. Cha, Michael G. Semanik, Rahul Chanchlani, Joseph T. Flynn, Mark Mitsnefes

Summary: This multicenter study reports that most infants diagnosed with idiopathic hypertension in the NICU will discontinue antihypertensive treatment within 2 years of discharge. Antenatal steroid treatment is associated with a decreased likelihood of needing antihypertensive therapy for more than 1 year.

JOURNAL OF PEDIATRICS (2024)

Add to Collection

«
1
2
3
4
5
»

See full results

Related Categories

Anesthesiology (212.5K) Audiology & Speech-Language Pathology (1.7K) Clinical Neurology (1.3M) Critical Care Medicine (338.4K) Dentistry, Oral Surgery & Medicine (340.8K) Dermatology (413.6K) Emergency Medicine (142.9K) Endocrinology & Metabolism (751.7K) Gastroenterology & Hepatology (856.4K) Geriatrics & Gerontology (226.3K) Gerontology (158.2K) Health Care Sciences & Services (433.8K) Hematology (653.3K) Immunology (896.7K) Infectious Diseases (453.2K) Integrative & Complementary Medicine (99.8K) Medical Ethics (26.6K) Medical Informatics (100.5K) Medical Laboratory Technology (108K) Medicine, General & Internal (1.3M) Medicine, Legal (48.4K) Medicine, Research & Experimental (710K) Nursing (297.8K) Obstetrics & Gynecology (559.8K) Oncology (1.8M) Ophthalmology (452.2K) Orthopedics (359.5K) Otorhinolaryngology (166K) Peripheral Vascular Disease (595.7K) Pharmacology & Pharmacy (1.3M) Primary Health Care (59.2K) Psychiatry (755.1K) Radiology, Nuclear Medicine & Medical Imaging (799.4K) Rehabilitation (249.2K) Rheumatology (300.3K) Surgery (1.3M) Toxicology (333.1K) Transplantation (309.7K) Tropical Medicine (112.2K) Urology & Nephrology (567K) Veterinary Sciences (455.3K)

© Peeref 2019-2024. All rights reserved.