Article
Pediatrics
Kaiyan Wei, Chaochun Zou
Summary: The NAA10 gene encodes the catalytic subunit of the NatA protein complex, responsible for acetylating 40% of human proteins. We report a three-year-old Chinese girl with a de novo NAA10 variant, exhibiting a wide range of clinical manifestations, including dysmorphic features, developmental delay, heart problems, and unique features like exophthalmos and blue sclera. Our aim is to expand the understanding of NAA10-related syndrome and investigate the genotype-phenotype correlation.
FRONTIERS IN PEDIATRICS
(2023)
Article
Genetics & Heredity
Katherine Sandomirsky, Elaine Marchi, Maureen Gavin, Karen Amble, Gholson J. Lyon
Summary: Our study investigated the characteristics of NAA10-related neurodevelopmental syndrome in 61 children, and found that growth failure, including weight and height percentiles below the failure-to-thrive diagnostic range, was highly prevalent. Gastrointestinal pathology associated with the syndrome includes various symptoms such as feeding difficulties, GERD, vomiting, constipation, and diarrhea. G-tube or GJ-tube feeding was found to be effective in improving weight gain and caregiving. G-tube placement should be considered if children with NAA10-related neurodevelopmental syndrome fail to improve their growth despite other interventions after the age of 1.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Review
Genetics & Heredity
Laura Gogoll, Katharina Steindl, Pascal Joset, Markus Zweier, Alessandra Baumer, Christina Gerth-Kahlert, Boris Tutschek, Anita Rauch
Summary: Ogden syndrome is a rare lethal X-linked disorder caused by a specific missense variant in the NAA10 gene. The syndrome is characterized by growth retardation, severe developmental delay, craniofacial features, and cardiac anomalies. This report of the ninth case provides further insight into the clinical course and expanding phenotypic spectrum of Ogden syndrome.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Article
Clinical Neurology
Lisa M. Clayton, Edwina Williams, Simona Balestrini, Sanjay M. Sisodiya
Summary: Dravet syndrome is a developmental and epileptic encephalopathy associated with variants in the SCN1A gene, characterized by seizure onset, developmental delay, and intellectual disability. Patients often have comorbidities like autism spectrum disorder and feeding difficulties, which can greatly impact their quality of life but have not received enough attention.
FRONTIERS IN NEUROLOGY
(2022)
Article
Genetics & Heredity
Zhikun Lu, Wen Zhang, Xiaojian Mao, Duan Li, Xiaodan Chen, Li Liu, Yunting Lin
Summary: Marbach-Rustad progeroid syndrome is an extremely rare disease caused by a heterozygous variant in the LEMD2 gene. This study describes the third case of Marbach-Rustad progeroid syndrome in the world, and the first case in China. Whole exome sequencing and reanalysis of the data identified a pathogenic variant in the LEMD2 gene, providing an accurate clinical diagnosis for the patient.
Editorial Material
Medicine, General & Internal
Aneta Kacprzak, Karina Oniszh, Regina Podlasin, Maria Marczak, Iwona Cielniak, Ewa Augustynowicz-Kopec, Witold Tomkowski, Monika Szturmowicz
Summary: Tuberculosis (TB) is the major cause of illness, hospitalization, and death in individuals living with HIV (PLWH). The decrease in CD4+ T-lymphocyte count during HIV infection increases the risk of active TB and atypical clinical and radiologic presentation. This case emphasizes the importance of screening for HIV in patients with newly diagnosed TB.
Article
Biochemical Research Methods
Tasnimul Alam Taz, Kawsar Ahmed, Bikash Kumar Paul, Md Kawsar, Nargis Aktar, S. M. Hasan Mahmud, Mohammad Ali Moni
Summary: The study focused on the synergistic effect between SARS-CoV-2 and IPF patients, revealing common genes, pathways, and drug targets through transcriptomic analysis and protein interaction network. The findings suggest that SARS-CoV-2 infection may lead to increased mortality for IPF patients, providing new insights for treatment.
BRIEFINGS IN BIOINFORMATICS
(2021)
Article
Biochemical Research Methods
S. M. Hasan Mahmud, Md Al-Mustanjid, Farzana Akter, Md Shazzadur Rahman, Kawsar Ahmed, Md Habibur Rahman, Wenyu Chen, Mohammad Ali Moni
Summary: COVID-19 poses a current threat to humanity, especially to individuals with risk factors such as IPF and COPD. By conducting transcriptomic analysis, researchers identified common pathways and molecular biomarkers in IPF, COPD, and COVID-19 to enhance understanding of their connection. The study also revealed potential candidate drugs for effective COVID-19 therapeutic interventions.
BRIEFINGS IN BIOINFORMATICS
(2021)
Article
Surgery
Joseph Salem, Wendy Blumenow, Anne Markey, Emma S. Hogg, Emma Mccann, Emily Yassaie, Anusha Hennedige, Sujata De, Sunil D. Sharma
Summary: Children with Pfeiffer syndrome who require airway intervention have more significant feeding problems, particularly using nasopharyngeal airways (NPAs) may contribute to feeding difficulties.
JOURNAL OF CRANIOFACIAL SURGERY
(2023)
Review
Infectious Diseases
Jingjing Hao, Jingyuan Liu, Lin Pu, Chuansheng Li, Ningning Yin, Ang Li
Summary: Respiratory failure in AIDS patients is a major cause of ICU admission. This study investigated the pulmonary infections and outcomes of respiratory failure in AIDS patients at Beijing Ditan Hospital in China. The primary cause of pulmonary infections was Pneumocystis jirovecii pneumonia, and the ICU mortality rate was 32.9%. Invasive mechanical ventilation and later admission to ICU were identified as independent predictors of ICU mortality.
INFECTION AND DRUG RESISTANCE
(2023)
Article
Genetics & Heredity
Shanshan Gao, Xuechao Zhao, Ganye Zhao, Peng Dai, Xiangdong Kong
Summary: This study reported the molecular mutations of the L1CAM gene and the imaging appearances of four fetuses with L1 syndrome from three independent Chinese families. Two of the three families had novel L1CAM variants. The results emphasized the importance of combining family history, prenatal ultrasonography, and L1CAM mutation testing for the diagnosis of L1 syndrome.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2022)
Article
Multidisciplinary Sciences
Julia Koczwarska, Agnieszka Pawelczyk, Justyna Dunaj-Malyszko, Justyna Polaczyk, Renata Welc-Faleciak
Summary: This study investigated the prevalence of pathogens in Dermacentor reticulatus ticks and the clinical manifestations after a tick bite. Results showed a high prevalence of Rickettsia in D. reticulatus ticks, with R. raoultii being the most common. Participants bitten by D. reticulatus ticks reported symptoms such as reddening, lymphadenopathy, and eschar, especially when bitten by ticks infected with R. raoultii. The findings highlight the importance of monitoring and addressing the potential risk of tick-borne diseases associated with D. reticulatus ticks.
SCIENTIFIC REPORTS
(2023)
Article
Medicine, General & Internal
Sinead Lally, Nicola Walsh, Janna Kenny, Orla Franklin, Melanie Cotter, Sarah Richardson, Fiona McEligott, Alan Finan
Summary: This article discusses the clinical course of a Fontaine progeroid syndrome patient from birth until his death at 7 months.
CLINICAL CASE REPORTS
(2022)
Article
Virology
Simon De Neck, Rebekah Penrice-Randal, Jordan J. Clark, Parul Sharma, Eleanor G. Bentley, Adam Kirby, Daniele F. Mega, Ximeng Han, Andrew Owen, Julian A. Hiscox, James P. Stewart, Anja Kipar
Summary: The study investigates the vascular response in the lungs of mice infected with SARS-CoV-2 and other respiratory viruses, and suggests that similar vascular changes occur in all virus infections. There is no evidence of endothelial cell infection in any of the models. The findings have implications for the treatment and management of respiratory disease in humans.
Article
Cell Biology
Stine M. Praestholm, Catarina M. Correia, Victor E. Goitea, Majken S. Siersbaek, Mathilde Jorgensen, Jesper F. Havelund, Thomas A. Pedersen, Nils J. Faergeman, Lars Grontved
Summary: The transition from a fasted to a fed state leads to extensive transcriptional remodeling in hepatocytes, with a subset of hepatic feeding-induced genes requiring glucocorticoid receptor (GR) for full expression. This includes the important gene Gck, which is involved in hepatic glucose metabolism. GR cooperatively regulates hepatic Gck expression with insulin in a direct manner, affecting postprandial glucose uptake and storage in the liver.
Letter
Allergy
Miroslaw Kwasniewski, Urszula Korotko, Karolina Chwialkowska, Magdalena Niemira, Jerzy Jaroszewicz, Barbara Sobala-Szczygiel, Beata Puzanowska, Anna Moniuszko-Malinowska, Slawomir Pancewicz, Anna Parfieniuk-Kowerda, Diana Martonik, Dorota Zarebska-Michaluk, Krzysztof Simon, Monika Pazgan-Simon, Iwona Mozer-Lisewska, Maciej Bura, Agnieszka Adamek, Krzysztof Tomasiewicz, Malgorzata Pawlowska, Anna Piekarska, Aleksandra Berkan-Kawinska, Andrzej Horban, Justyna Kowalska, Regina Podlasin, Piotr Wasilewski, Arsalin Azzadin, Miroslaw Czuczwar, Michal Borys, Pawel Piwowarczyk, Slawomir Czaban, Jacek Bogocz, Magdalena Ochab, Anna Kruk, Sandra Uszok, Agnieszka Bielska, Anna Szalkowska, Justyna Raczkowska, Gabriela Sokolowska, Joanna Chorostowska-Wynimko, Aleksandra Jezela-Stanek, Adriana Rozy, Urszula Lechowicz, Urszula Polowianiuk, Agnieszka Tycinska, Kamil Grubczak, Aleksandra Starosz, Wiktoria Izdebska, Tadeusz F. Krzeminski, Jean Bousqet, Genoveffa Franchini, Jennifer Hadlock, Adam Kretowski, Mubeccel Akdis, Cezmi A. Akdis, Milena Sokolowska, Andrzej Eljaszewicz, Robert Flisiak, Marcin Moniuszko
Article
Immunology
Ilona Gottschalk, Uwe Koelsch, Dimitrios L. Wagner, Jonas Kath, Stefania Martini, Renate Krueger, Anne Puel, Jean-Laurent Casanova, Aleksandra Jezela-Stanek, Rainer Rossi, Salima El Chehadeh, Hilde Van Esch, Horst von Bernuth
Summary: Patients with MECP2/IRAK1 duplication syndrome do not show excessive NF-kappa B signaling, suggesting that therapeutic suppression of this pathway may not benefit these patients.
JOURNAL OF CLINICAL IMMUNOLOGY
(2023)
Review
Biochemistry & Molecular Biology
Magdalena Machnikowska-Sokolowska, Aleksandra Myszczuk, Emilia Wieszala, Dominika Wieja-Blach, Ewa Jamroz, Justyna Paprocka
Summary: Mucopolysaccharidosis 1 (MPS 1) is a rare lysosomal genetic disorder that causes the accumulation of undegraded glycosaminoglycans (GAGs) in the body, resulting in multiorgan damage. Neurological symptoms can range from mild to severe. Neuroimaging, especially magnetic resonance imaging (MRI), plays a crucial role in diagnosing and monitoring this disease. Early diagnosis is essential for timely therapy implementation. New imaging tools such as MR spectroscopy (MRS), semiquantitative MRI analysis, and scoring systems greatly assist in surveillance of MPS 1. This analysis is based on 5 children with MPS 1 and a review of the literature, highlighting the importance of radiologists' vigilance and knowledge of neuroradiological patterns.
Review
Biochemistry & Molecular Biology
Konrad Kaminiow, Izabella Rygula, Justyna Paprocka
Summary: There are over 150 inherited metabolic disorders that can present as ataxia in children. Neuroimaging studies and genetic studies are essential for diagnosis. Prompt treatment can positively influence neurodevelopment.
Article
Biochemistry & Molecular Biology
Katarzyna Wertheim-Tysarowska, Katarzyna Osipowicz, Bartlomiej Gielniewski, Bartosz Wojtas, Alicja Szabelska-Beresewicz, Joanna Zyprych-Walczak, Adriana Mika, Andrzej Tysarowski, Katarzyna Duk, Agnieszka Magdalena Rygiel, Katarzyna Niepokoj, Katarzyna Wozniak, Cezary Kowalewski, Jolanta Wierzba, Aleksandra Jezela-Stanek
Summary: Loricrin keratoderma (LK) is a rare genetic skin disease caused by mutations in the LORICRIN gene. Little is known about the pathogenesis of the disease, and there is limited understanding about the clinical significance of certain gene variants. This study describes two variants in the LORICRIN gene found in two families and provides insight into the gene expression profile and potential therapeutic implications of LK. The results have important implications for genetic counseling and future treatment options.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Pharmacology & Pharmacy
Karolina Podkowa, Kamil Czarnacki, Agnieszka Boronczyk, Michal Boronczyk, Justyna Paprocka
Summary: Migraine, a disorder that affects females more often than males, may be treated with NMDA receptor antagonists such as memantine and ketamine, according to a comprehensive literature review. Animal and in vitro studies have shown that these drugs inhibit the propagation of spreading depression (SD), a major mechanism in migraine pathophysiology. Clinical trials have also indicated that ketamine or memantine may be effective in treating severe migraine, although more studies with control groups are needed. These drugs could be a promising alternative for individuals with treatment-resistant migraine with aura or limited treatment options.
NAUNYN-SCHMIEDEBERGS ARCHIVES OF PHARMACOLOGY
(2023)
Review
Genetics & Heredity
Michal Hutny, Patryk Lipinski, Aleksandra Jezela-Stanek
Summary: This study reports the phenotype of six Polish patients with HPMRS1, focusing on behavioral and imaging features that were not addressed in previous reports. Despite having the same PIGV homozygotic mutation, these patients exhibited diverse neurological and developmental disorders, mainly involving muscular tonus and global developmental delay. Behavioral disorders and sensory impairment require additional care and awareness, considering the common global developmental delay observed in these patients.
Article
Genetics & Heredity
Justyna Paprocka, Aleksandra Jezela-Stanek, Robert Smigiel, Anna Walczak, Hanna Mierzewska, Anna Kutkowska-Kazmierczak, Rafal Ploski, Ewa Emich-Widera, Barbara Steinborn
Summary: This study analyzed the first Polish patients with confirmed heterozygous pathogenic and potentially pathogenic KIF1A variants. Three novel variants were identified. The authors highlighted the difficulties in classifying particular syndromes due to non-specific and overlapping signs and symptoms, sometimes observed only temporarily.
Review
Genetics & Heredity
Udara D. Senarathne, Neluwa-Liyanage R. Indika, Aleksandra Jezela-Stanek, Elzbieta Ciara, Richard E. Frye, Cliff Chen, Karolina M. Stepien
Summary: Autism spectrum disorders (ASD) are a diverse group of neurodevelopmental disorders characterized by social impairments, communication limitations, and repetitive behaviors. The causes of ASD include genetic, epigenetic, and environmental factors, with a link established between ASD and inherited metabolic disorders (IMDs). This review discusses the biochemical, genetic, and clinical approaches used to investigate IMDs associated with ASD. Biochemical analysis involves examining body fluids to confirm general metabolic or lysosomal storage diseases, while genomic testing technology allows for the identification of specific genetic defects. Early recognition and treatment of IMDs in ASD patients with relevant clinical symptoms and multiorgan involvement can lead to improved care and quality of life.
Review
Medicine, General & Internal
Aleksandra Jezela-Stanek, Joanna Chorostowska-Wynimko
Summary: Alpha-1 antitrypsin deficiency (AATD) is a common inherited disorder that increases the risk of pulmonary disease. The clinical presentation of AATD is highly variable and not strongly linked to genotype and environmental exposure. Genetic factors play a role in the variability of AATD, but their exact role is still unclear. In this review, we summarize the current understanding of epigenetic and genetic modifiers of pulmonary dysfunction in AATD patients.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Genetics & Heredity
Klaniewska Magdalena, Bolanowska-Tyszko Anna, Latos-Bielenska Anna, Jezela-Stanek Aleksandra, Szczaluba Krzysztof, Krajewska-Walasek Malgorzata, Ciara Elzbieta, Pelc Magdalena, Jurkiewicz Dorota, Stawinski Piotr, Zubkiewicz-Kucharska Agnieszka, Rydzanicz Malgorzata, Ploski Rafal, Smigiel Robert
Summary: This article describes a rare genetic disorder called SBBYSS syndrome and its association with the KAT6B gene. The study of six patients revealed a certain degree of phenotypic variability in SBBYSS syndrome. Further research is needed to better understand the range of phenotypes in this disease.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2023)
Article
Biochemistry & Molecular Biology
Jagoda Hofman-Hutna, Michal Hutny, Edyta Matusik, Magdalena Olszanecka-Glinianowicz, Pawel Matusik
Summary: This observational study aimed to assess the nutritional status of vitamin D in obese children and its correlation with metabolic syndrome. The findings suggest that vitamin D deficiency may influence lipid and glucose metabolism in children, leading to the development of abnormalities characteristic of the metabolic syndrome.