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1.
J Endocrinol Invest ; 45(8): 1569-1575, 2022 Aug.
Article in English | MEDLINE | ID: covidwho-1777891

ABSTRACT

PURPOSE: SARS-CoV-2 infection may cause varying degrees of cardiac injury and the presence of underlying cardiovascular morbidities contributes to the frequency and severity of occurrence of this complication. Lipodystrophy syndromes are frequently characterized by severe metabolic derangements that represent relevant cardiovascular risk factors. Besides causing lipodystrophy, mutations in the lamin A/C (LMNA) gene can lead to a wide spectrum of tissue-specific disorders including cardiac involvement. METHODS AND RESULTS: We herein examine the case of two patients affected by atypical progeroid syndrome and partial lipodystrophy due to a heterozygous missense LMNA mutation c.1045 C > T (p.R349W) who presented initially with mild COVID-19 and developed severe cardiovascular complications within few weeks of SARS-CoV-2 infection. Before being infected with SARS-CoV-2, our patients had cardiovascular morbidities (mild mitral regurgitation in one patient, ischemic heart disease with bifascicular block in the other patient) in adjunct to cardiovascular risk factors, but the SARS-CoV-2 infection contributed to quickly and significantly decompensate their balance. CONCLUSION: These findings warn that patients affected by LMNA p.R349W mutation and likely other LMNA mutations associated with cardiovascular morbidity should be considered at extremely elevated risk of post-acute cardiological manifestations and should therefore undergo a vigilant follow-up after SARS-CoV-2 infection. Both patients developed COVID-19 before the specific vaccination was available to them and this unfortunate situation should remark the importance of vaccination coverage against SARS-CoV-2 infection for all patients affected by lipodystrophy, especially those with underlying comorbidities.


Subject(s)
COVID-19 , Lipodystrophy , COVID-19/complications , Humans , Lamin Type A/genetics , Mutation , SARS-CoV-2/genetics
2.
Front Public Health ; 9: 738179, 2021.
Article in English | MEDLINE | ID: covidwho-1775885

ABSTRACT

Background: It is important that physicians be aware of LH. We designed a questionnaire to determine physician awareness, knowledge, and behaviors regarding LH in clinical practice. Participants: A total of 499 questionnaires were completed by physicians in hospitals from 13 cities in Jiangsu Province, China. Key Results: Compared with physicians at tertiary hospitals, significantly fewer physicians at primary hospitals reported awareness of LH and its screening methods. The proportion of resident physicians aware of LH was significantly lower than the proportion of senior physicians. The proportion of physicians who could identify all LH risk factors among the low-GDP group was significantly higher than the high-GDP group. Only 38.7% of doctors could successfully identify all the hazards associated with LH, but more doctors in tertiary hospitals were able to do so compared to those in secondary and primary hospitals. Compared with tertiary hospitals, the proportions of primary and secondary hospitals with management processes were significantly lower. The proportion of doctors who educated patients regarding LH prevention and treatment in primary hospitals was markedly lower than in tertiary hospitals. Conclusions: Overall, physicians have an inadequate understanding of LH, especially in primary hospitals.


Subject(s)
Lipodystrophy , Physicians , Hospitals , Humans , Risk Factors , Surveys and Questionnaires
3.
Hum Vaccin Immunother ; 18(5): 2042136, 2022 Nov 30.
Article in English | MEDLINE | ID: covidwho-1730550

ABSTRACT

A 60-year-old woman presented with a depressed lesion at the site of her first COVID-19 (Astra Zeneca) vaccine injection. The lesion was diagnosed as a case of injection related localized lipoatrophy as markers of autoimmune disease were negative and biopsy differentiated it from localized involutional lipoatrophy. This case of localized lipoatrophy was likely due to inadvertent subcutaneous injection of the COVID-19 vaccine with a 16 mm long needle.


Subject(s)
COVID-19 , Lipodystrophy , COVID-19/prevention & control , COVID-19 Vaccines/adverse effects , Female , Humans , Injections, Subcutaneous , Lipodystrophy/chemically induced , Lipodystrophy/drug therapy , Middle Aged
4.
Eur J Neurol ; 28(8): 2603-2613, 2021 08.
Article in English | MEDLINE | ID: covidwho-1518029

ABSTRACT

BACKGROUND AND PURPOSE: Nasu-Hakola disease (NHD) is a rare, autosomal recessive disorder characterized by skeletal and neurological symptoms. Behavioral symptoms with cognitive impairment may mimic the behavioral variant of frontotemporal dementia (bvFTD) and other early-onset dementias. Our patients were analyzed and the literature was reviewed to delineate neurological and neuroimaging findings suggestive of NHD. METHOD: Fourteen patients carrying a pathogenic mutation in the TREM2 gene were found in our database. Demographic, clinical, laboratory and radiological data were retrieved and analyzed. RESULTS: The presenting clinical picture was behavioral changes with cognitive decline resembling bvFTD in all patients. The mean age was 37.1 ± 4.97 years and the mean duration of the disease was 8.9 ± 3.51 years. Only two patients had typical bone cysts. Seven patients had bilateral calcification of the basal ganglia in computed tomography of the brain. Magnetic resonance imaging of the brain revealed severe atrophy of the corpus callosum, enlargement of the ventricles, atrophy of the caudate nuclei and periventricular white matter changes in all patients. Symmetrical global atrophy of the brain mainly affecting frontoparietal and lateral temporal regions were observed in all cases, and 13 patients had atrophy of the hippocampus. Cerebrospinal fluid examination of 10 patients showed elevated protein levels in six and the presence of oligoclonal bands in four patients. CONCLUSION: A combination of white matter changes, enlarged ventricles, atrophy of the caudate nuclei and thinning of the corpus callosum in magnetic resonance imaging strongly suggests NHD in patients with FTD syndrome. Molecular genetic analysis should be performed in suspected cases, and families should receive genetic counseling.


Subject(s)
Frontotemporal Dementia , Lipodystrophy , Membrane Glycoproteins/genetics , Osteochondrodysplasias , Receptors, Immunologic/genetics , Subacute Sclerosing Panencephalitis , Adult , Brain/diagnostic imaging , Frontotemporal Dementia/diagnostic imaging , Frontotemporal Dementia/genetics , Humans , Magnetic Resonance Imaging , Neuroimaging
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