Acute Low-Dose Hydralazine-Induced Lupus Pneumonitis by Sarah K. Holman, Donique Parris, Sarah Meyers, Jason Ramirez

“…Six weeks later, CT chest showed complete resolution of infiltrates. Genetic testing revealed she was heterozygous for N-acetyltransferase 2 (intermediate acetylator). …”
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Diagnosis of Prenatal-Onset Achondrogenesis Type II by a Multidisciplinary Assessment: A Retrospective Study of 2 Cases by Wenbo Wang, Qichang Wu, Li Sun, Xiaohong Zhong, Yasong Xu, Xiaojian Xie, Zhiying Su

“…Two cases of fetal achondrogenesis type II were analyzed retrospectively using prenatal ultrasound evaluation, postnatal radiographic diagnosis, and molecular genetic testing of COL2A1. Results. A causative mutation in the COL2A1 gene was found in both patients. …”
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Clinical, genetic aspects and molecular pathogenesis of osteopetrosis by D. D. Nadyrshina, R. I. Khusainova

“…Clinical examination and review of radiographs, bone biopsy and genetic testing provide the bases for clinical diagnosis. …”
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The role of candidate genetic polymorphisms in covid-19 susceptibility and outcomes by Anthony Yazbeck, Reem Akika, Zainab Awada, Nathalie K. Zgheib

“…Conclusion This study highlights the importance of genetic testing for key host genes involved in COVID-19 life cycle and eventually measuring the PRS which proves to be an important tool for prognosis assessment in vulnerable individuals, potentially enhancing patient care.…”
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Alcohol consumption and allergic diseases: Mendelian randomization evidence from China by Chen Zhu, Timothy Beatty, Yingxiang Li, Gang Chen, Qiran Zhao, Qihui Chen

“…Method In collaboration with a leading genetic testing company in China, we collected data on 3,041 participants via an online survey between December 2018 and October 2019. …”
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Xeroderma Pigmentosum with Severe Neurological Manifestations/De Sanctis–Cacchione Syndrome and a Novel XPC Mutation by Esteban Uribe-Bojanini, Sara Hernandez-Quiceno, Alicia María Cock-Rada

“…He also displayed severe neurologic abnormalities (intellectual disability, ataxia, altered speech, and hyperreflexia), short stature, and microcephaly, which are features associated with DSC. Genetic testing revealed a novel germline mutation in the XP-C gene (c.547A>T). …”
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Characterization of environmental and clinical surveillance inputs to support prospective integrated modeling of the polio endgame. by Kamran Badizadegan, Kimberly M Thompson

“…In addition, the development and expansion of genetic testing technologies create new opportunities for poliovirus surveillance system designs. …”
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Pseudohypoparathyroidism type 1A presenting as short stature and congenital hypothyroidism by Ragini Kondetimmanahalli, Jane Lynch, Gary Francis, Heather Gardner, Radhika Pillai

“…Screening laboratory studies for endocrine disorders, a skeletal survey if skeletal disproportion is evident, a karyotype or microarray (microarray favored if developmental delay is also present) and genetic testing for monogenic disorders will lead to a specific diagnosis in an additional subset of short children. …”
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Novel Mutation in the PKHD1 Gene Diagnosed Prenatally in a Fetus with Autosomal Recessive Polycystic Kidney Disease by Pankaj Thakur, Paul Speer, Aleksandar Rajkovic

“…Our case highlights PKHD1 allelic heterogeneity and the importance of genetic testing in the prenatal setting where many other genetic etiologies can phenocopy ARPKD.…”
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A Boy With KIF11-Associated Disorder Along With ADHD and ASD: Collaboration Between Paediatrics and Child Psychiatry by Annelien Marcelis, Evelyne Van Reet

“…We present a case report of an 8-year-old boy with KIF11-associated disorder alongside ADHD and ASD but without intellectual disability. Genetic testing confirmed a KIF11 mutation. Cognitive, language, and motor assessments revealed delays in fine motor skills and attention deficits. …”
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Unique Case Report of a Meningeal Sarcoma Arising during Ongoing Treatment for Progressing Intraparenchymal Glioma by Richard A. Peterson, Bhavani Kashyap, Pamala A. Pawloski, Anna C. Forsberg, Leah R. Hanson

“…The patient resumed bevacizumab, began NovoTTF treatment for progressing glioma, and ifosfamide/doxorubicin for the sarcoma. Genetic testing revealed no pathogenic mutation in the TP53 gene. …”
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Wilson’s Disease: Diagnosis of Wilson’s Disease in Ethiopian Young Sisters by Nebiyu Bekele, Frew Ewnetu, Tigest Hailu, Zerubabel Tegegne, Abilo Tadesse

“…Clinical signs, biochemical parameters, histologic findings, and/or ATP7B genetic testing are required to diagnose Wilson’s disease. …”
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A Therapeutic Challenge: Liddle’s Syndrome Managed with Amiloride during Pregnancy by Amelia Caretto, Liviana Primerano, Francesca Novara, Orsetta Zuffardi, Stefano Genovese, Maurizio Rondinelli

“…Hypertension worsened after the 25th week of gestation and amiloride was safely administered, firstly in combination with hydrochlorothiazide (the only formulation commercially available in Italy) and, thereafter, as a single drug. Genetic testing was performed in the patient’s family in order to support diagnosis and clinical management.…”
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The Association of Pseudohypoparathyroidism Type Ia with Chiari Malformation Type I: A Coincidence or a Common Link? by Paria Kashani, Madan Roy, Linda Gillis, Olufemi Ajani, M. Constantine Samaan

“…He had hypocalcemia, hyperphosphatemia, and elevated Parathyroid Hormone levels. Genetic testing revealed a known mutation of GNAS gene, confirming the diagnosis of Pseudohypoparathyroidism Type Ia (PHP-Ia) (c.34C>T (p.G1n12X)). …”
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Rett syndrome complicated by diabetes mellitus type 1 by Yasutaka Kuniyoshi, Satoru Takahashi

“…At 10 years of age, genetic testing revealed a pathogenic MECP2 mutation. …”
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A Newborn with Cleft Palate Associated with PTEN Hamartoma Tumor Syndrome by Ulf Nestler, Daniel Gräfe, Vincent Strehlow, Robin-Tobias Jauss, Andreas Merkenschlager, Annika Schönfeld, Florian Wilhelmy

“…<b>Conclusion</b>: Since the amount of prospective data remains limited, and the estimation of tumor risk during infancy and adulthood is very difficult, we advocate for early and broad genetic testing in suspected cases, to gain more insights into this rare disease and allow for better counseling for patients and their families.…”
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Keratoconus with two consecutive re-emergences: a case report by Peicheng Zhang, Yanchao Wu, Lixiao Ma, Dong Wang

“…In 2019, the patient experienced re-emergence of keratoconus and underwent a third deep lamellar keratoplasty in the same eye. Genetic testing was performed, and no abnormal genes were identified. …”
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Molecular, Biochemical, and Clinical Characterization of Thirteen Patients with Glycogen Storage Disease 1a in Malaysia by Siti Aishah Abdul Wahab, Yusnita Yakob, Mohd Khairul Nizam Mohd Khalid, Noraishah Ali, Huey Yin Leong, Lock Hock Ngu

“…The establishment of G6PC molecular genetic testing will enable the detection of presymptomatic patients, assisting in genetic counselling while avoiding the invasive methods of liver biopsy.…”
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Primary Hyperoxaluria Type 1 in 18 Children: Genotyping and Outcome by Mohamed S. Al Riyami, Badria Al Ghaithi, Nadia Al Hashmi, Naifain Al Kalbani

“…Due to consanguinity, PH1 is a common cause of ESRD in Omani children. Genetic testing is recommended to help in family counseling and helps in decreasing the incidence and disease burden; it also could be utilized for premarital screening.…”
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Atypical Features in a Large Turkish Family Affected with Friedreich Ataxia by Semiha Kurt, Betul Cevik, Durdane Aksoy, E. Irmak Sahbaz, Aslı Gundogdu Eken, A. Nazli Basak

“…Here, we describe the clinical features of several members of the same family diagnosed with Friedreich ataxia (FRDA) and cerebral lesions, demyelinating neuropathy, and late-age onset without a significant cardiac involvement and presenting with similar symptoms, although genetic testing was negative for the GAA repeat expansion in one patient of the family. …”
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