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Kenny-Caffey Syndrome Type 2 (KCS2): A New Case Report and Patient Follow-Up Optimization.
J Clin Med
December 2024
Division of Endocrinology, Diabetes and Metabolism, ENDO-ERN Center for Rare Pediatric Endocrine Disorders, First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, Aghia Sophia Children's Hospital, 11527 Athens, Greece.
Kenny-Caffey syndrome 2 (KCS2) is a rare cause of hypoparathyroidism, inherited in an autosomal dominant mode, resulting from pathogenic variants of the gene, which is implicated in intracellular pathways regulating parathormone (PTH) synthesis and skeletal and parathyroid gland development. : The case of a boy is reported, presenting with the characteristic and newly identified clinical, biochemical, radiological, and genetic abnormalities of KCS2. : The proband had noticeable dysmorphic features, and the closure of the anterior fontanel was delayed until the age of 4 years.
View Article and Find Full Text PDFTbx1 haploinsufficiency leads to local skull deformity, paraflocculus and flocculus dysplasia, and motor-learning deficit in 22q11.2 deletion syndrome.
Nat Commun
December 2024
Department of Developmental Neurobiology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA.
Neurodevelopmental disorders are thought to arise from intrinsic brain abnormalities. Alternatively, they may arise from disrupted crosstalk among tissues. Here we show the local reduction of two vestibulo-cerebellar lobules, the paraflocculus and flocculus, in mouse models and humans with 22q11.
View Article and Find Full Text PDFEarly Sagittal Shape of the Spine Predicts Scoliosis Development in a Syndromic (22q11.2DS) Population: A Prospective Longitudinal Study.
J Bone Joint Surg Am
December 2024
Department of Orthopaedic Surgery, University Medical Center Utrecht, Utrecht, The Netherlands.
Background: Scoliosis is a deformation of the spine and trunk that, in its more severe forms, creates a life-long burden of disease and requires intensive treatment. For its most prevalent form, adolescent idiopathic scoliosis, no underlying condition can be defined, and the pathomechanism appears to be multifactorial; however, it has been suggested that the biomechanics of the spine play a role. For nonidiopathic scoliosis, underlying conditions can be recognized, but what drives the deformity remains unclear.
View Article and Find Full Text PDFPredictors of lumbar spine trabecular bone score in women with postsurgical hypoparathyroidism.
Bone
January 2025
Laboratory of Molecular Pharmacology, School of Health Sciences, University of Brasilia, Brasilia, Brazil. Electronic address:
Article Synopsis
- Hypoparathyroidism is a rare condition that causes reduced bone remodeling, resulting in higher bone mineral density, but its impact on fracture risk is still uncertain.
- In this study of 67 women with postsurgical hypoparathyroidism and 63 matched controls, the researchers assessed bone health using dual-energy x-ray absorptiometry to measure mineral density and identify vertebral fractures.
- The results showed that women with hypoparathyroidism had higher bone mineral density but few vertebral fractures, suggesting that traditional risk factors like age and diabetes are more critical for fracture risk than hypoparathyroidism itself.
A novel GNAS mutation in pseudohypoparathyroidism type 1a with articular flexion deformity: A case report.
Open Life Sci
July 2024
Department of Neurology, The Quzhou Affliliated Hospital of Wenzhou Medical University, Quzhou People's Hospital, Quzhou, 324000, Zhejiang, China.
Article Synopsis
- Pseudohypoparathyroidism (PHP) type 1a is a genetic disorder that leads to resistance to hormonal signaling and includes symptoms like short stature, facial changes, obesity, and intellectual disability.
- Progressive osseous heteroplasia (POH) is another rare condition marked by abnormal bone growth in areas like skin and muscle, inherited differently from PHP 1a.
- A case study of a Chinese boy with multiple health issues linked to these disorders revealed a specific genetic mutation, leading to the diagnosis of POH overlap syndrome, and showed that treatment helped alleviate some of his symptoms.
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