Results 11 to 20 of about 1,646 (102)

Genetics in Heterotaxy: A Case Series and Literature Review on DNAH9, PKD1L1, MMP21, and GDF1. [PDF]

Clin Genet
Integrating trio‐based genomic sequencing with detailed clinical evaluation across seven French–Vietnamese heterotaxy cases alongside a review of 108 published patients reveals strong genotype–phenotype correlations. Variants in DNAH9, PKD1L1, MMP21, and GDF1 define a broad spectrum from isolated situs inversus to complex conotruncal heart defects and ...
Ho TBT, Coudert A, Do TTH, Le TTT, Gauthier M, Dubucs C, Mortreux J, Monin P, Chatron N, Devillard F, Coutton C, Satre V, Harbuz R, Dufour W, Januel L, Celse T, Paris C, Consortium A, Tran LTM, Trinh HT, Jouk PS, Truong BL, Nguyen TKN, Thevenon J.   +23 more
europepmc   +2 more sources

Dextrocardia in Heterotaxy Syndrome (Polysplenia Variant) in a 36-Year-Old Ethiopian Woman: A Case Report and Literature Review. [PDF]

Case Rep Cardiol
Background Heterotaxy syndrome—polysplenia variant (left isomerism) with dextrocardia is a rare constellation of laterality defects characterized by left‐isomerism, multiple splenic nodules, and associated vascular and visceral anomalies. This report describes an adult Ethiopian woman who presented with nonspecific abdominal pain and was found to have ...
Tukeni KN, Dekema RJ, Shukri MK, Mohammed JY, Jima MD, Kebede ML.   +5 more
europepmc   +2 more sources

A Rare Case Report of Iniencephaly with Anencephaly and its Rare Associated Congenital Malformation [PDF]

Journal of Clinical and Diagnostic Research, 2018
Iniencephaly is an extremely rare neural tube defect with incidence range from 0.1 to 10 in 10,000. It is diagnosed by a triad of fixed retroflexion of the head, variable degrees of cervical lordosis and dysraphism, and an occipital bone defect involving
Tanima Dwivedi, Ranjit Kangle
doaj   +1 more source

Selected Abstracts of the 18th International Workshop on Neonatology and Pediatrics; Cagliari (Italy); October 19-22, 2022

Journal of Pediatric and Neonatal Individualized Medicine, 2022
Selected Abstracts of the 18th International Workshop on Neonatology and Pediatrics; Cagliari (Italy); October 19th-22nd, 2022   The Workshop has been organized with the patronage of UENPS (Union of European Neonatal and Perinatal Societies), UMEMPS ...
--- Various Authors
doaj   +1 more source

PIH1D2 Loss-of-Function Directs Ciliary and Cell Cycle Defects Resulting in Left Isomerism With or Without Biliary Atresia. [PDF]

Liver Int
ABSTRACT Background & Aims Laterality disorders are rare congenital conditions caused by disruption of left–right embryonic patterning, often associated with ciliary dysfunction. Despite the identification of numerous causative genes, the molecular basis remains unresolved in many patients.
Kurolap A, Chai Gadot C, Shalata A, Eshach Adiv O, Amir Y, Lando BL, Stehling F, Hershkovitz T, Osman K, Habib C, Mintz H, Steinberg R, Hochberg A, Hamiel U, Mory A, Marom D, von Hardenberg S, Singer A, Auber B, Baris Feldman H.   +19 more
europepmc   +2 more sources

Inherited microcytic anemias due to disorders of iron and heme metabolism: An updated clinical review [PDF]

Hemasphere
Abstract Microcytic anemia is among the most common hematological abnormalities in clinical practice and is usually attributable to iron deficiency, thalassemia traits, or anemia of inflammation. A small but clinically important subset of patients, however, has inherited disorders of iron metabolism or heme synthesis presenting with persistent ...
Makis A, Saougou I, Hatzimichael E.
europepmc   +2 more sources

Epidemiology and Characterization of Immunological Disorders in Children Diagnosed With Pneumococcal Invasive Disease. [PDF]

Int J Pediatr
Aim A substantial proportion of children hospitalized with invasive pneumococcal infection are subjected to immune evaluations, to detect immunological disorders (ID). The literature lacks thorough analysis of the necessity and effectiveness of these evaluations for previously healthy children with such infections.
Shahar C, Livni G, Marcus N, Pasternak Y.   +3 more
europepmc   +2 more sources

Congenital isolated asplenia accidentally discovered during acute peritonitis

Journal of Surgery and Medicine, 2020
Cok nadir gorulen bir durum olan konjenital aspleninin 2 farkli tipi vardir: heterotaksi sendromlari ve izole konjenital aspleni (ICA). Ivemark sendromu, asplenia, kalbin malformasyonlari ve gogus ve karindaki ic organlarin malpozisyonu ile karakterize heterotaksi sendromlarindan biridir.
Elmarouni Abdelouhab, Karam Aziz, Ettayeb Ouazzani, Ahmed Zerhouni, Tarik Souiki, Karim İbn Majdoub El Hassani, Khalid Mazaz, Imane Toghrai   +7 more
openaire   +2 more sources

Case report of congenital asplenia presenting with Haemophilus influenzae type a (Hia) sepsis: an emerging pediatric infection in Minnesota

BMC Infectious Diseases, 2019
Background In the pre-vaccine era, invasive disease with Haemophilus influenzae, type b (Hib) commonly presented with osteoarticular involvement. Haemophilus influenzae, type a (Hia) sepsis is a rare but emerging problem in recent years.
Tiffany Albrecht, Kristina Poss, Satja Issaranggoon Na Ayuthaya, Lori Triden, Katherine L. Schleiss, Mark R. Schleiss   +5 more
doaj   +1 more source

Incidental Diagnosis of Situs Inversus Totalis in a 45-Year-Old Male Who Presented With Acute Asthma Exacerbation: A Case Report and Brief Literature Review. [PDF]

Clin Case Rep
ABSTRACT Incidental situs inversus totalis (SIT) requires thorough anatomical mapping to exclude associated syndromes (e.g., Kartagener) and congenital anomalies. Early identification, patient education on mirrored anatomy, and multidisciplinary coordination are essential to prevent iatrogenic errors during future interventions, even in asymptomatic ...
Bayisa RG, Baharu LM, Abafogi MM, Bonsa YB, Shukri MK, Woyimo TG.   +5 more
europepmc   +2 more sources