Results 51 to 60 of about 3,040 (188)

Nuss procedure for combined pectus excavatum and carinatum in a patient with a history of congenital esophageal atresia repair surgery

Journal of Cardiothoracic Surgery, 2022
Cardiothoracic surgery usually causes tissue adhesion on the operation site which increases the risk of complications in the subsequent thoracic surgery including Nuss procedure.
Gyeol Yoo, Jin Yong Jeong
doaj   +1 more source

The Diagnostic Odyssey of a Biochemically Confirmed Case of ML II: The First Western Patient With LYSET Deficiency

Clinical Genetics, Volume 110, Issue 1, Page 125-130, July 2026.
We identify a female patient with a homozygous nonsense variant (p.Gln38Ter) in the LYSET gene. This is the first western report of a challenging case of an extensive diagnostic odyssey and demonstrates that the LYSET gene must be considered in the differential diagnosis when M6P‐labeled lysosomal enzymes are altered.
Fernanda Sperb‐Ludwig, Taciane Alegra, Leonardo Martinello da Rosa, Nataniel Floriano Ludwig, Renata Voltolini Velho, Ida Vanessa Doederlein Schwartz   +5 more
wiley   +1 more source

Surgical approach to treatment of asymmetric pectus excavatum in children

Хірургія дитячого віку, 2022
Objective. To improve the outcomes in patients with asymmetric pectus excavatum (APE) by developing and implementing our own differentiated modified Nuss procedure to correct different variants of this deformity; to analyse the treatment outcomes ...
V.R. Zaremba, O.A. Danylov
doaj   +1 more source

Exercise impairment in patients with pectus excavatum? A scoping review of evidence and role of arterial content change during effort

Physiological Reports, Volume 14, Issue 13, July 2026.
Abstract This scoping review describes cardiopulmonary fitness in non‐operated patients with pectus excavatum and maps the reporting of hemoglobin and arterial oxygen content during exercise. Four databases (PubMed, ScienceDirect, CINAHL, and SPORTDiscus) were searched from inception to February 15th, 2025.
Maxime Lokietek, Simon Lecoq, Laura Filaire, Bénédicte Noury‐Desvaux, Mariève Houle, Pierre Abraham   +5 more
wiley   +1 more source

A Case Report of Shwachman‐Diamond Syndrome Caused by Heterozygous Variants in the EFL1 Gene and Literature Review

Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
We report a neonatal SDS patient with earliest onset of symptoms. The c.2935C>T and c.3149_3151delCAC compound heterozygous variants reported in this study expand the mutational spectrum of this disease. ABSTRACT Objective This investigation reports on a Shwachman‐Diamond syndrome (SDS) case arising from compound heterozygous genetic variations ...
Xiaoying Zhou, Hongxin Li, Xinyi Yang, Chunli Wang, Wenting Zhang   +4 more
wiley   +1 more source

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1021-1035, May 2026.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

Minimally invasive repair of the severe pectus excavatum in an infant

Journal of Pediatric Surgery Case Reports, 2019
Pectus excavatum is the most common congenital chest wall abnormality. Nuss et al., in 1998 described minimally invasive repair of pectus excavatum and this procedure is now the procedure of choice in many institutions for the surgical repair of pectus ...
Muharrem Özkaya, Mehmet Bilgin
doaj   +1 more source

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1156-1161, May 2026.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston, Carolina de Souza Araujo, Fernanda Araujo Romera, André Luis Ferreira, Érica Trovisco Martins, Carolina Galhós de Aguiar, José Eduardo Mourão Santos, Rodrigo Ragazzini, Daniela Testoni Costa‐Nobre, Ana Claudia Yoshikumi Prestes, Allan Chiaratti de Oliveira, Eduardo Perrone, Débora Gusmão Melo, Anne Caroline Barbosa Teixeira, Antonio Victor Campos Coelho, Caio Robledo D’Angioli Costa Quaio, Carolina Araujo Moreno, Eduardo Perrone, Jose Bandeira do Nascimento Junior, Jessica Grasiela Araujo Espolaor, Joana Rosa Marques Prota, Joao Bosco de Oliveira Filho, Jose Ricardo Magliocco Ceroni, Kelin Chen, Letícia Torres Ferreira, Lucas Santos de Santana, Luciana Souto Mofatto, Luiza do Amaral Virmond, Marina de Franca Basto Silva, Michele Patricia Migliavacca, Renata Moldenhauer Minillo, Renata Yoshiko Yamada, Roberta Sitnik, Tatiana Ferreira de Almeida, Thiago Yoshinaga Tonholo Silva, Vivian Pedigone Cintra   +35 more
wiley   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Pycnodysostosis With Papilledema and Isolated Low Parathyroid Hormone Levels in an Eight‐Year‐Old Girl: A Genetically Confirmed Case Report

Clinical Case Reports, Volume 14, Issue 4, April 2026.
ABSTRACT Pycnodysostosis is a rare autosomal recessive skeletal dysplasia resulting from pathogenic variants in the CTSK gene, which encodes cathepsin K, a lysosomal cysteine protease expressed in osteoclasts. Deficiency of this enzyme leads to defective bone resorption and generalized osteosclerosis.
Meghana Krishna Kesineni, Naveen Jagadish Kandregula, Sameer Kumar Majety, Yulia Alekseevna Pimenova, Bhargav Kadali, Vineeth Potluri, Prudhvi Lekkala   +6 more
wiley   +1 more source