Results 61 to 70 of about 5,175,842 (164)

Neuroimaging Findings and Risk Factors for Brain Injury in Foetuses Treated for Anaemia

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Characterize neuroimaging findings in foetuses with anaemia and identify associated risk factors. Methods Retrospective cohort study of pregnancies with foetal anaemia (defined as haemoglobin > 2 standard deviations below the gestational age mean) confirmed by foetal blood sampling (FBS) and treated with intrauterine transfusion (IUT)
Laurence Sophie Carmant, Carlos Robles, Seungwoo Lee, Prakesh S. Shah, Greg Ryan, Elka Miller, Shiri Shinar   +6 more
wiley   +1 more source

Perinatal-lethal Gaucher disease presenting as hydrops fetalis

The Pan African Medical Journal, 2015
Perinatal-lethal Gaucher disease is very rare and is considered a variant of type 2 Gaucher disease that occurs in the neonatal period. The most distinct features of perinatal-lethal Gaucher disease are non-immune hydrops fetalis.
Emira Ben Hamida, Imene Ayadi, Ines Ouertani, Maroua Chammem, Ahlem Bezzine, Riadh Ben Tmime, Leila Attia, Ridha Mrad, Zahra Marrakchi   +8 more
doaj   +1 more source

Magnetic resonance imaging of the liver and spleen in the diagnosis of storage diseases

Вестник рентгенологии и радиологии, 2016
Storage diseases (thesaurismoses, storage reticuloses) are the common name of a large group of hyperplastic non-leukemic diseases characterized by congenital or acquired metabolic disturbances and abnormal accumulation of metabolic products in blood and ...
Z. M. Shapieva, O. V. Kucheruk, V. E. Sinitsyn, E. A. Mershina   +3 more
doaj   +1 more source

Real‐World Cost and Utilisation Burden of Diagnosed Metabolic Dysfunction‐Associated Steatotic Liver Disease in Patients With Type 2 Diabetes in the United States: A Retrospective Cohort Study

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Aims This study quantified the real‐world healthcare costs and utilisation associated with diagnosed metabolic dysfunction‐associated steatotic liver disease (MASLD) among adults with Type 2 diabetes (T2D). Methods We conducted a retrospective cohort study using IQVIA PharMetrics Plus Closed Health Plan data from January 2016 to June 2025 ...
Tien Hoang Tran, Hyung‐Seok Kim, Rozalina G. McCoy, Zafar Zafari   +3 more
wiley   +1 more source

MODELLING GBA1-RELATED PARKINSON¿S DISEASE PATHOLOGY IN PATIENT-DERIVED MIDBRAIN ORGANOIDS

, 2023
Aggregation of α-synuclein protein in “Lewy bodies” and “Lewy neurites” and dopaminergic neuronal loss in the nigrostriatal system are the key neuropathological hallmarks of Parkinson’s disease.
FRATTINI, EMANUELE
core   +2 more sources

Molecular dynamics simulations elucidate the misfolding mechanisms of secretion‐defective pancreatic lipase variants

The FEBS Journal, EarlyView.
Misfolding mutations in pancreatic lipase have been identified as potential contributors of chronic pancreatitis, an inflammatory disease of the human pancreas. Here, we describe the effect of these misfolding mutations on pancreatic lipase structure using molecular dynamics simulations and structural modeling.
Gyula Hoffka, András Szabó
wiley   +1 more source

Clinicopathological and molecular comparison of eosinophilic solid and cystic renal cell carcinoma and TFEB‐amplified renal cell carcinoma: a comprehensive study of 15 cases

Histopathology, EarlyView.
This study supports the need for ancillary testing to diagnose ESC‐RCC versus TFEB‐amplified RCC, as neither morphology nor immunohistochemistry is sufficiently specific to distinguish these entities. The underlying molecular drivers in each tumour are pathogenic TSC1 or TSC2 gene variants in ESC‐RCC and TFEB gene amplification in TFEB‐amplified RCC ...
Hayley Zullow, Melissa Y. Tjota, Jung Woo Kwon, Tatjana Antic   +3 more
wiley   +1 more source

Retrospective analysis of the effect of alcohol abuse and restraining device on maxillofacial injury in a tertiary care hospital [PDF]

, 2021
Introduction: Gaucher’s disease is a hereditary disease that can be diagnosed by determination of acid β glucosidase enzyme activity on leucocytes but it’s diagnosis is mostly delayed due to limited availability of test.To determine prevalence of Gaucher’
Supraja, Kodali Sri, Malapati, Sudhakar Rao, Kishore, K.V.   +2 more
core   +1 more source

Impaired gait kinematics in type 1 Gaucher’s Disease

Journal of Parkinson’s Disease, 2016
Type 1 Gaucher’s disease (GD1) is traditionally regarded as “non-neurological”. Spatiotemporal and kinematic analysis of gait was carried on thirteen GD1 patients and thirteen healthy controls.
Pierpaolo Sorrentino, Antonio Barbato, Luigi Del Gaudio, Rosaria Rucco, Pasquale Varriale, Michelina Sibilio, Pasquale Strazzullo, Giuseppe Sorrentino, Valeria Agosti   +8 more
doaj   +1 more source

ICSH Guidance on Bone Marrow Examination and Reporting

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Examination of the bone marrow (BM) remains fundamental to the diagnosis, classification, prognostication, and monitoring of hematolymphoid and other disorders affecting blood cell production. Since publication of the International Council for Standardization in Haematology (ICSH) guideline in 2008, advances in diagnostic technologies, disease
Wendy N. Erber, Alexandar Tzankov, Olga Pozdnyakova, Hiromichi Matsushita, Gina Zini, Leonie Saft, on behalf of the International Council for Standardization in Haematology   +6 more
wiley   +1 more source