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[Comparison of the accuracy between magnetic resonance hydrography and CT myelography in diagnosing of spontaneous intracranial hypotension syndrome].
Zhonghua Yi Xue Za Zhi
March 2025
Department of Neurology, Zhongshan Hospital, Fudan University, Shanghai 200032, China.
To compare the accuracy of spinal magnetic resonance myelography (MRM) and CT myelography (CTM) in the detection of spontaneous intracranial hypotension (SIH). The clinica data of SIH patients at the Neurology Department of Zhongshan Hospital Affiliated to Fudan University between June 2021 and August 2023 were prospectively collected. MRM was performed first, CTM, followed by CTM.
View Article and Find Full Text PDFPrenatal Diagnosis of Shwachman-Diamond Syndrome: Fetal Compound Heterozygous Variants in the SBDS Gene Associated With Mildly Straight Ribs.
Prenat Diagn
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Department of Obstetrics and Gynaecology, The First Affiliated Hospital of Ningbo University, Ningbo, China.
Shwachman-Diamond Syndrome (SDS) is a rare genetic disorder with pancreatic insufficiency, bone marrow failure, and skeletal abnormalities. Prenatal diagnosis is rare, with only one previous case. We report a novel antenatal SDS diagnosis at 22 weeks gestation.
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February 2025
Department of Orthopedics, AIIMS, Bhubaneswar, Odisha, India.
Introduction: Primary tuberculosis (TB) of a rib is a very uncommon presentation and accounts for <1% of musculoskeletal TB.
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Complete loss of IFT27 function leads to a phenotypic spectrum of fetal lethal ciliopathy associated with altered ciliogenesis.
Eur J Hum Genet
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Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
Ciliopathies are rare genetic diseases marked by considerable phenotypic heterogeneity and overlap. Among the key mechanisms of cilium biology, its compartmentalization is achieved through gating complexes and active transport such as intraflagellar transport (IFT). Among the IFT components, IFT27 plays a role in BBSome-mediated transport of ciliary membrane proteins required for ciliary signaling.
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Department of Orthopaedics, Kasturba Medical College Mangalore, Manipal Academy of Higher Education, Karnataka, Manipal, 576104, India
Hereditary multiple exostoses (HME) is an autosomal dominant condition with variable penetrance. As per Dr Waller's audit of the Leeds regional bone tumour registry, 90 primary bone tumours of the thoracic skeleton were recorded, accounting for 4.5% of all cases in the registry.
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