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(Archives de pédiatrie[TA])
8,709 results
  • Unexplained near-drowning can reveal ALCAPA in children. [Journal Article]
    Arch Pediatr. 2021 Jan 22 [Online ahead of print]Bichali S, Giroux N, … Liet JM
  • An 11-year-old girl experienced an episode of near-drowning. She was immediately rescued and was defibrillated. Transthoracic echocardiography and coronary computed tomographic angiography confirmed the diagnosis of anomalous left coronary artery from the pulmonary artery (ALCAPA). We report a rare description of this congenital coronary anomaly in a child, revealed after exercise-induced sudden …
  • Vitamin D intoxication due to misuse: 5-year experience. [Journal Article]
    Arch Pediatr. 2021 Jan 19 [Online ahead of print]Çağlar A, Tuğçe Çağlar H
  • CONCLUSIONS: Stoss therapy should not be administered for children of families with problems of adherence to treatment. It should be noted that VDI may develop as a result of improperly produced nutritional supplements. General practitioners and pediatricians must be aware of VDI risks and explain them to parents. Pamidronate is effective for treating VDI in children.
  • COVID-19 infection in children: A systematic review and meta-analysis of clinical features and laboratory findings. [Journal Article]
    Arch Pediatr. 2021 Jan 09 [Online ahead of print]Mansourian M, Ghandi Y, … Mehrabi S
  • CONCLUSIONS: This review found that clinical presentations were milder, the prognosis was better, and the mortality rate was lower in children with COVID-19 compared with adult patients; however, children are potential carriers, like adults, and can transmit the infection among the population. Therefore, early identification and intervention in pediatric patients with COVID-19 are essential in order to control the pandemic. Moreover, gastrointestinal symptoms were more common symptoms among children.
  • Time knowledge impairments in children with ADHD. [Journal Article]
    Arch Pediatr. 2021 Feb; 28(2):129-135.De la Charie A, Delteil F, … Mikaeloff Y
  • CONCLUSIONS: This study shows time knowledge impairment in children with ADHD, and paves the way for new screening tests and rehabilitation focused on time knowledge and time-related skills, in order to improve patient care and autonomy.
  • Molecular diagnosis and genetic counseling for spinal muscular atrophy (SMA). [Review]
    Arch Pediatr. 2020 Dec; 27(7S):7S9-7S14.Rouzier C, Chaussenot A, Paquis-Flucklinger V
  • Spinal muscular atrophy (SMA) is a neuromuscular autosomal recessive disorder caused by bi-allelic pathogenic variants in the SMN1 gene. 95% of SMA patients have a SMN1 homozygous deletion. In the 5% remaining affected patients, a heterozygous SMN1 deletion is associated with an intragenic SMN1 rare inactivating pathogenic variant on the other allele. The clinical phenotype of SMA is heterogeneou…
  • Ethical aspects in the care of a child with infantile spinal muscular atrophy (SMA). [Review]
    Arch Pediatr. 2020 Dec; 27(7S):7S50-7S53.Chabrol B, Desguerre I
  • The pediatrician has a privileged relationship with a child with infantile spinal muscular atrophy (SMA). At all times, he/she must be the child's mentor, promoting a comprehensive approach and support in order to ensure the best possible solution for the patient's autonomy. In all circumstances, an ethical stance is essential. After a reminder on the notions of ethics of care, we will address va…
  • Multidisciplinary approach and psychosocial management of spinal muscular atrophy (SMA). [Review]
    Arch Pediatr. 2020 Dec; 27(7S):7S45-7S49.Ropars J, Peudenier S, … Espil C
  • Spinal Muscular Atrophy (SMA) is a severe complex disorder involving different aspects of care and professionals. Helping individuals to achieve their best possible quality of life is an essential part of health care. A multidisciplinary approach to management across the range of actors improves the function, quality of life and longevity of patients with SMA. Multidisciplinary management should …
  • State of the art for motor function assessment tools in spinal muscular atrophy (SMA). [Review]
    Arch Pediatr. 2020 Dec; 27(7S):7S40-7S44.Vuillerot C
  • Spinal muscular atrophy (SMA) is a progressive disease characterized by a degeneration of the spinal cord motor neurons. Many clinical trials - planned, in progress, or completed - have chosen motor function as the primary or secondary outcome because motor function assessment tools appeared to be more reliable than quantitative muscle testing in monitoring the course of the disease. Reliable, va…
  • Functional and surgical treatments in patients with spinal muscular atrophy (SMA). [Review]
    Arch Pediatr. 2020 Dec; 27(7S):7S35-7S39.Boulay C, Peltier E, … Pesenti S
  • Spinal muscular atrophies (SMA type 1, 2, 3) present with various severities according to the motor semeiology related to lesions of the peripheral nervous system (lesions of the anterior horn cells motoneuron or even brain stem). Early motor deficiency causes skeletal deformities responsible for the alteration or even absence of motor skills acquisition. The management of these patients involves…
  • Pathogenesis and therapeutic targets in spinal muscular atrophy (SMA). [Review]
    Arch Pediatr. 2020 Dec; 27(7S):7S3-7S8.Lefebvre S, Sarret C
  • Autosomal-recessive spinal muscular atrophy (SMA) is characterized by the loss of specific motor neurons of the spinal cord and skeletal muscle atrophy. SMA is caused by mutations or deletions of the survival motor neuron 1 (SMN1) gene, and disease severity correlates with the expression levels of the nearly identical copy gene, SMN2. Both genes ubiquitously express SMN protein, but SMN2 generate…
  • Respiratory management of children with spinal muscular atrophy (SMA). [Review]
    Arch Pediatr. 2020 Dec; 27(7S):7S29-7S34.Fauroux B, Griffon L, … Baravalle-Einaudi M
  • Spinal muscular atrophy (SMA) causes a predominantly bilateral proximal muscle weakness and atrophy. The respiratory muscles are also involved with a weakness of the intercostal muscles and a relatively spared diaphragm. This respiratory muscle weakness translates into a cough impairment, resulting in poor clearance of airway secretions and recurrent pulmonary infections, restrictive lung disease…
  • Clinical features of spinal muscular atrophy (SMA) type 3 (Kugelberg-Welander disease). [Review]
    Arch Pediatr. 2020 Dec; 27(7S):7S23-7S28.Salort-Campana E, Quijano-Roy S
  • Spinal muscular atrophy type 3 (SMA3), also called Kugelberg-Welander SMA, typically presents with muscle fatigue, slowly progressive weakness and atrophy of lower limbs once they have already acquired independent ambulation. Visceral involvement frequent in type 1 and 2 subtypes is rare in SMA3. Hypotonia, hyperlaxity and absent osteo-tendinous reflexes are typical features. By definition, stand…
  • Clinical features of spinal muscular atrophy (SMA) type 2. [Review]
    Arch Pediatr. 2020 Dec; 27(7S):7S18-7S22.Cancès C, Richelme C, … Espil C
  • Infantile spinal muscular atrophy (SMA) type 2 is sometimes called intermediate SMA to indicate the disease severity. Generally, psychomotor development is normal until the age of 6 to 8 months, with the acquisition of a stable sitting position. The early signs are muscle weakness, mostly affecting the lower limbs, generalized hypotonia and areflexia. The consequences of motor neuron degeneration…
  • Spinal muscular atrophy (SMA) type I (Werdnig-Hoffmann disease). [Review]
    Arch Pediatr. 2020 Dec; 27(7S):7S15-7S17.Audic F, Barnerias C
  • Spinal muscular atrophy type I, also called Werdnig-Hoffmann disease, is the most serious form. The disease appears before the age of 6 months and is characterized by major global hypotonia and abolition of tendon reflexes, with children never being able to sit unaided. Cognitive development is normal and the expressive gaze of these children contrasts with the paralytic attitude. Respiratory inv…
  • Clinical phenotype associated with TANGO2 gene mutation. [Journal Article]
    Arch Pediatr. 2021 Jan; 28(1):80-86.Hoebeke C, Cano A, … Chabrol B
  • The clinical picture associated with a Transport and Golgi Organization 2 (TANGO2) gene bi-allelic mutation is represented by encephalopathy and rhabdomyolysis marked by cardiac rhythm disorders and neurological regression. The presentation of encephalopathy is diverse and can range from isolated language delay and cognitive impairment in a child to multiple disabilities and spastic quadriparesis…
  • The phenotype caused by recessive variations in SLC25A22: Report of a new case and literature review. [Journal Article]
    Arch Pediatr. 2021 Jan; 28(1):87-92.André MV, Cacciagli P, … Milh M
  • We describe the clinical, electroencephalography (EEG), and developmental features of a patient with developmental and epileptic encephalopathy due to a homozygous pathogenic variation of mitochondrial glutamate/H+ symporter SLC25A22. Epilepsy began during the first week of life with focal onset seizures. Interictal EEG revealed a suppression-burst pattern with extensive periods of non-activity. …
  • Oral manifestations of celiac disease in French children. [Journal Article]
    Arch Pediatr. 2021 Feb; 28(2):105-110.Villemur Moreau L, Dicky O, … Olives JP
  • Celiac disease (CD) is an immune-mediated systemic disorder caused by ingestion of the gluten found in wheat, rye, and barley. The currently estimated prevalence in children is about 1%. CD is a chronic enteropathy with gastrointestinal manifestations including diarrhea, abdominal distension and weight loss, but extra-intestinal features are increasingly being reported. Dental and oral manifestat…
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