Forty-two cases of congenital scoliosis, four cases of congenital kyphosis and one case of congenital lordosis were reviewed retrospectively from 1975 through 1982, with an average follow-up of 5.09 years. Associated anomalies occurred in 62.5% of the cases, with Sprengel's deformity and Klippel-Feil syndrome being the most common musculoskeletal anomalies. The rate of abnormal intravenous pyelography was 21.8%, and absent kidneys or duplication of collecting systems accounted for the majority of renal abnormalities. Myelographic abnormalities were noted in eight of twenty-five studies and included two cases of diastematomyelia and one tethered cord syndrome. Initial treatment was observation (11), bracing (11), and surgery in the remaining 25 cases. The surgical complication rate was 22.8%. Progressive deformities led to additional surgical procedures in six cases which had previous in situ fusions.
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http://dx.doi.org/10.3928/0147-7447-19850601-14 | DOI Listing |
J Cell Immunol
January 2024
Department of Medicine, University of Washington, Seattle, Washington, U.S.A.
Neutrophil elastase () mutations are the most common cause of cyclic (CyN) and congenital neutropenia (SCN), two autosomal dominant disorders causing recurrent infections due to impaired neutrophil production. Granulocyte colony-stimulating factor (G-CSF) corrects neutropenia but has adverse effects, including bone pain and in some cases, an increased risk of myelodysplasia (MDS) and acute myeloid leukemia (AML). Hematopoietic stem cell transplantation is an alternative but is limited by its complications and donor availability.
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October 2024
Department of Hepato-Gastroenterology, University Hospital of Mohammed VI, Marrakech, Morocco.
Pancreas divisum occurs during development when the ventral and dorsal buds of the pancreas do not fuse. It is the most common congenital anomaly of the pancreas. Patients with this condition are usually asymptomatic, but almost 25% of these patients experience recurrent pancreatitis, which may progress to chronic pancreatitis.
View Article and Find Full Text PDFUrol Case Rep
January 2025
Department of Urology, China Medical University Hospital, Taiwan.
Zinner syndrome is a congenital anomaly characterized by seminal vesicle cysts, ipsilateral renal agenesis, and ejaculatory duct obstruction possibly associated with infertility. Only 200 cases of Zinner syndrome have been reported since its discovery in 1914. We present the case of a 63-year-old man seeking treatment for a ureteropelvic junction stone causing severe hydronephrosis.
View Article and Find Full Text PDFStroke
January 2025
Department of Experimental Neurology, Center for Stroke Research Berlin (CSB), Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Germany (M.F., S.B., S.M., K.W., M.E., A.M., U.D., C.S.).
Background: Contrary to the common belief, the most commonly used laboratory C57BL/6J mouse inbred strain presents a distinctive genetic and phenotypic variability, and for several traits, the genotype-phenotype link remains still unknown. Recently, we characterized the most important stroke survival factor such as brain collateral plasticity in 2 brain ischemia C57BL/6J mouse models (bilateral common carotid artery stenosis and middle cerebral artery occlusion) and observed a Mendelian-like fashion of inheritance of the posterior communicating artery (PcomA) patency. Interestingly, a copy number variant (CNV) spanning locus was reported to segregate in an analogous Mendelian-like pattern in the C57BL/6J colonies of the Jackson Laboratory.
View Article and Find Full Text PDFBiosci Trends
January 2025
Shenzhen Clinical Research Center for Infectious Disease, State Key Discipline of Infectious Disease, Shenzhen Third People's Hospital, Second Hospital Affiliated to Southern University of Science and Technology, Shenzhen, Guangdong, China.
Syphilis, a chronic infection caused by Treponema pallidum, is experiencing a global resurgence, posing significant public health challenges. This study examined the escalating trends of syphilis in the United States, China, and some other countries highlighting the impact of the COVID-19 pandemic, changes in sexual behavior, coinfection with the other infectious diseases such as AIDs, and the role of public health funding. The analysis revealed a stark increase in syphilis cases, particularly among high-risk groups such as men who have sex with men (MSM).
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