osteogenesis imperfecta
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2022 ◽  
Vol 12 ◽  
Abeer N. Alshukairi ◽  
Hazem Doar ◽  
Afaf Al-Sagheir ◽  
Mona A. Bahasan ◽  
Anas A. Sultan ◽  

BackgroundAlthough genetic diseases are rare, children with such conditions who get infected with COVID-19 tend to have a severe illness requiring hospitalization. Osteogenesis imperfecta (OI) is a rare genetic disorder of collagen resulting in fractures and skeletal deformities. Kyphoscoliosis, restrictive lung disease, and pneumonia worsen the prognosis of patients with OI. The use of bisphosphonate improves bone mineral density (BMD) and reduces fractures in OI. There is no literature describing the impact of COVID-19 in patients with OI.MethodologyA retrospective multi-center study was performed in three hospitals in Jeddah and Riyadh, Saudi Arabia, from March 1st, 2020, until August 31st, 2021, aiming to evaluate the outcome of COVID-19 in patients with OI. Demographics, vaccination status, underlying kyphoscoliosis, functional status, use of bisphosphonate, BMD, and COVID-19 severity, and course were recorded for all patients.ResultsTwelve cases of confirmed COVID-19 were identified among 146 patients with OI. 9 (75%) of patients were less than 18 years, 6 (50%) were male, 5 (41%) had kyphoscoliosis, and 5 (41%) were wheelchair-bound. 6 (50%) received bisphosphonate, and 7(58%) had normal BMD. All patients had mild disease and did not require hospitalization. None of OI the patients with COVID-19 were fully vaccinated before the infection, and some were ineligible for vaccination.ConclusionPatients with OI and COVID-19 in our study recovered without complications, unlike patients with other genetic diseases. Young age and mild illness contributed to the favorable outcome. Half of the patients received bisphosphonate and had normal BMD.

2022 ◽  
Vol 9 ◽  
Pan Hong ◽  
Ruikang Liu ◽  
Saroj Rai ◽  
Jin Li

Background: Cubitus varus deformity is a common complication of untreated elbow fractures in children. However, cubitus varus in osteogenesis imperfecta (OI) children is a rare but challenging situation. To the author's knowledge, this is the first study discussing the correction of cubitus varus deformity in patient with OI.Case Presentation: Here we report a case of a 7-year-old OI girl with cubitus varus deformity due to a supracondylar fracture of humerus 3 year ago. The patient's parent gave a history of supracondylar fracture of left humerus in 2015. Without medical intervention, the patient was admitted into our institution for corrective surgery with the diagnosis of osteogenesis imperfecta and cubitus varus deformity in the left arm.Result: Medications including calcium, vitamin D and bisphosphonates were administered before the corrective surgery of cubitus varus, and a single locking plate was used to fixate the osteotomy. After the surgery, the appearance and range of motion (ROM) of the left arm was almost normal. Combined with gradual rehabilitation, the ROM of the left arm was normal without pain during daily use within the 1-year follow up. The hardware was removed as the nailing of the forearm fractures was performed at the same time. In the latest follow-up in September 2021, the appearance and ROM of the left arm was normal.Conclusion: Cubitus varus is a common deformity in children with elbow injuries, but it presents a challenging situation in compound fractures in OI patients. Locking plate combined with meticulous pharmacological intervention provides a good option for corrective surgery of cubitus varus in patients with OI.

2022 ◽  
Vol 4 (1) ◽  
pp. 01-07
Huang Wei Ling

Introduction; Osteogenesis imperfecta is according to Western medicine, a disorder of the connective tissue caused by an abnormal synthesis or processing type I collagen of genetic origin, a protein that is important to strengthen bones. The clinical manifestation of this problem can cause blue sclera, short stature, and deafness in adulthood, dentinogenesis imperfecta. In traditional Chinese medicine (TCM), osteogenesis imperfecta is related to Kidney energy deficiency (second chakra). Purpose: the purpose of this study is to show that patients with osteogenesis imperfecta has energy deficiency in the Kidney energy (second chakra) and the treatment of this condition, replenishing this energy using highly diluted medications is very important to treat the root of the problem and not just treating the symptoms. Methods: through one case report of 30 years-old man with history of several fractures since childhood. He went acupuncture clinic to treat his anxiety symptoms and I saw that his sclera was blue. Treatment was done using Chinese dietary counseling, auricular acupuncture with apex ear bloodletting and systemic acupuncture. Radiesthesia procedure were used to measure his chakras’ energy centers. Results: All his chakras’ were in the lowest level of energy, including the second that was the Kidney, responsible for the bone and teeth. The treatment began replenishing this chakras’ energy centers using highly diluted medications, such as homeopathies, according to the theory created by me (2020) entitled Constitutional Homeopathy of the Five Elements Based on Traditional Chinese Medicine and crystal-based medications. Conclusion: through this case reported in this article, I can say that patient with osteogenesis imperfecta has energy deficiency in the five internal massive organ, especially in the Kidney and the treatment of these energy deficiency, is very important to treat patients with osteogenesis imperfecta in the deepest level, in the energy point of view.

Taccyanna M. Ali ◽  
Bianca D. W. Linnenkamp ◽  
Guilherme L. Yamamoto ◽  
Rachel S. Honjo ◽  
Hamilton Cabral de Menezes Filho ◽  

Genes ◽  
2022 ◽  
Vol 13 (1) ◽  
pp. 124
Dina Nadyrshina ◽  
Aliya Zaripova ◽  
Anton Tyurin ◽  
Ildar Minniakhmetov ◽  
Ekaterina Zakharova ◽  

Osteogenesis imperfecta (OI) is an inherited disease of bone characterized by increased bone fragility. Here, we report the results of the molecular architecture of osteogenesis imperfecta research in patients from Bashkortostan Republic, Russia. In total, 16 mutations in COL1A1, 11 mutations in COL1A2, and 1 mutation in P3H1 and IFIMT5 genes were found in isolated states; 11 of them were not previously reported in literature. We found mutations in CLCN7, ALOX12B, PLEKHM1, ERCC4, ARSB, PTH1R, and TGFB1 that were not associated with OI pathogenesis in patients with increased bone fragility. Additionally, we found combined mutations (c.2869C>T, p. Gln957* in COL1A1 and c.1197+5G>A in COL1A2; c.579delT, p. Gly194fs in COL1A1 and c.1197+5G>A in COL1A2; c.2971G>C, p. Gly991Arg in COL1A2 and с.212G>C, p.Ser71Thr in FGF23; c.-14C>T in IFITM5 and c.1903C>T, p. Arg635* in LAMB3) in 4 patients with typical OI clinic phenotypes.

Ivan Duran ◽  
Jennifer Zieba ◽  
Fabiana Csukasi ◽  
Jorge H. Martin ◽  
Davis Wachtell ◽  

Medicine ◽  
2022 ◽  
Vol 101 (1) ◽  
pp. e28483
Mayumi To ◽  
Kota Kamizato ◽  
Hayato Shinzato ◽  
Manabu Kakinohana

JCI Insight ◽  
2022 ◽  
Amanda L. Scheiber ◽  
Kevin J. Wilkinson ◽  
Akiko Suzuki ◽  
Motomi Enomoto-Iwamoto ◽  
Takashi Kaito ◽  

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