Results 51 to 60 of about 5,402 (155)
Clinical Case Reports, Volume 14, Issue 7, July 2026.ABSTRACT Early recognition of syndromic features by dental professionals can lead to timely diagnosis and intervention, especially when systemic anomalies have been overlooked. Preventive and individualized dental management, supported by behavioral guidance, can achieve long‐term stability even in medically complex patients, including those with ...
Nazanin Nasr +4 more
wiley +1 more source
Genetic diseases with impaired central respiratory control
The EuroBiotech Journal, 2017 Respiration is controlled by the complex orchestration of central nervous system centers, peripheral chemoreceptors and muscles of respiration and is shaped by complex ontogenetic factors.
Rosso Lourdes M. Del, Ferri Raffaele
doaj +1 more source
Clinical Case Reports, Volume 14, Issue 7, July 2026.Serial sagittal T1‐weighted MR images demonstrating persistent thinning of the corpus callosum. (A) Initial MRI at 19 months of age shows diffuse thinning of the corpus callosum involving the body and splenium. (B) Follow‐up MRI one year later demonstrates stable appearance without interval progression, consistent with corpus callosal hypoplasia ...
Anwar Abu Hetta +4 more
wiley +1 more source
Indian pediatrics, 1995 Joubert's syndrome is clinically characterized by attacks of tachypnea alternating with respiratory pauses, abnormal ocular movements, psychomotor retardation, and ataxia. Anatomic anomalies include cerebellar vermis agenesis with dilatation of the fourth ventricle. It is an autosomal recessive disorder; onset is in the neonatal period and prognosis is
A, Chattopadhyay +5 more
openaire +3 more sources
Allergy, Volume 81, Issue 7, Page 2391-2402, July 2026.Ligelizumab re‐treatment in CSU patients showed sustained efficacy and tolerability. Over 50% achieved symptom control (UAS7 ≤ 6) by Week 12; benefits maintained through Week 52. No new safety signals observed; aligns with prior PEARL trial outcomes. CSU, chronic spontaneous urticaria; mg, milligram; q4w, every 4 weeks; UAS, urticaria activity score ...
Ana M. Gimenez‐Arnau +22 more
wiley +1 more source
Frontiers in PediatricsJoubert syndrome (JS) is a rare autosomal recessive neurodevelopmental condition characterized by congenital mid-hindbrain abnormalities and a variety of clinical manifestations. This article describes a case of Joubert syndrome type 21 with microcephaly,
Caichuan Wei +4 more
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American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1179-1191, June 2026.ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson +1 more
wiley +1 more source
Joubert Syndrome, A Ciliopathy
Pediatric Neurology Briefs, 2013 Investigators at Neurogenetics Unit, Mendel Laboratory, Rome, and University of Salerno, Italy, review the clinical features and genetic basis of Joubert syndrome, overlap with other ciliopathies, and the multifaceted roles of primary cilia in CNS ...
J Gordon Millichap
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Cilia in Nervous System Development, Function, and Disease
MedComm – Future Medicine, Volume 5, Issue 2, June 2026.Cilia are evolutionarily conserved organelles that function as essential sensory and motility platforms in the nervous system. This review outlines key cilia‐dependent signaling pathways and their roles in neural development and function. Furthermore, it highlights how ciliary dysfunction can lead to a variety of neurological disorders, known as ...
Qingchao Li, Anqi Zhang, Ting Song
wiley +1 more source