Medicina (Kaunas). 2022 Dec 13;58(12):1835. doi: 10.3390/medicina58121835.

ABSTRACT

Background and Objectives: Recent findings demonstrate that the transmigration of severe acute respiratory syndrome Coronavirus 2 (SARS-CoV-2) to the nervous system implicates severe neurotropic pathologies, including the onset of the rare disease called Guillain-Barré syndrome (GBS) which is characterized by immune-mediated polyneuropathy. This study aimed to identify the predisposing factors and the clinical features of coronavirus disease 2019 (COVID-19)-induced GBS. Materials and Methods: We have performed an analysis of 147 cases. A systematic review of the published research work was performed per the PRISMA statement to obtain individual participant data (IPD) for the meta-analysis. The search was conducted through PubMed, using the combined search terms "Guillain-Barré syndrome" and "COVID-19". All case reports and series in the English language with accessed full text were included in the search. Results: A systematic database search led to the retrieval of 112 peer-reviewed articles published between 1 April 2020, and 8 February 2022. The articles comprised 16 case series and 96 case reports containing IPD for 147 patients. Our findings showed that 77.6% of all cases were 40 years or older. Males comprised most of the cases (65.3%; n = 96). The intensive care unit (ICU) admission was 44.9%, and the need for mechanical ventilation (MV) was 38.1%. The patients presented with hyporeflexia or areflexia (84.4%; n = 124), lower limb strength and sensation impairment (93.2%; n = 138), upper limb strength and sensation impairment (85.7; n = 126), and somatic sensation impairment (72.8%; n = 107). The patients presented with increased cerebral spinal fluid (CSF) protein levels (92%; n = 92) and the presence of CSF albuminocytological dissociation (83.5%; n = 71). The most common variant of GBS observed was acute inflammatory demyelinating polyneuropathy (AIDP). We found that predisposing factors concomitant with COVID-19 and GBS were male gender and older age. Among the cases, patient mortality was 10.9%. Conclusions: A gap of knowledge exists regarding the complete spectrum of clinical characteristics of COVID-19-related GBS. Recent findings suggest that SARS-CoV-2 triggers GBS, as it follows a similar para-infectious pattern as the other viral agents contributing to the onset of GBS.

PMID:36557036 | PMC:PMC9788175 | DOI:10.3390/medicina58121835

Medicina (Kaunas). 2022 Dec 9;58(12):1810. doi: 10.3390/medicina58121810.

ABSTRACT

Kimura's disease (KD) is a rare chronic inflammatory disorder that commonly occurs in Asian males. It mainly presents as painless subcutaneous masses or lymphadenopathy in the head and neck region. The incidence of KD in the oral cavity is quite rare. We reported a rare case of a 53-year-old male who had KD in his soft palate, hard palate and bilateral tonsils associated with severe sleep apnea. This patient underwent radiotherapy and exhibited a good response to the treatment. Throughout the 12-month follow-up period, the patient's condition remained satisfactory. Of the other 14 reviewed cases of KD in the oral cavity, the lesions can occur in the buccal mucosa, hard and soft palate, and mouth floor with specific clinical features. We further summarized their manifestations and treatments in order to guide the future identification and management of KD with lesions in the oral cavity.

PMID:36557012 | PMC:PMC9783615 | DOI:10.3390/medicina58121810

Genes (Basel). 2022 Dec 10;13(12):2327. doi: 10.3390/genes13122327.

ABSTRACT

To keep pace with the rapid advancements in molecular genetics and rare diseases research, we have updated the list of ectodermal dysplasias based on the latest classification approach that was adopted in 2017 by an international panel of experts. For this purpose, we searched the databases PubMed and OMIM for the term "ectodermal dysplasia", referring mainly to changes in the last 5 years. We also tried to obtain information about those diseases on which the last scientific report appeared more than 15 years ago by contacting the authors of the most recent publication. A group of experts, composed of researchers who attended the 8th International Conference on Ectodermal Dysplasias and additional members of the previous classification panel, reviewed the proposed amendments and agreed on a final table listing all 49 currently known ectodermal dysplasias for which the molecular genetic basis has been clarified, including 15 new entities. A newly reported ectodermal dysplasia, linked to the gene LRP6, is described here in more detail. These ectodermal dysplasias, in the strict sense, should be distinguished from syndromes with features of ectodermal dysplasia that are related to genes extraneous to the currently known pathways involved in ectodermal development. The latter group consists of 34 syndromes which had been placed on the previous list of ectodermal dysplasias, but most if not all of them could actually be classified elsewhere. This update should streamline the classification of ectodermal dysplasias, provide guidance to the correct diagnosis of rare disease entities, and facilitate the identification of individuals who could benefit from novel treatment options.

PMID:36553593 | PMC:PMC9778228 | DOI:10.3390/genes13122327

Rev Invest Clin. 2022;74(6):328-339. doi: 10.24875/RIC.22000234.

ABSTRACT

BACKGROUND: Severe congenital neutropenia type 4 (SCN4) is a rare autosomal recessive granulopoiesis disorder caused by G6PC3 gene pathogenic variants. The estimated prevalence is 1/10,000,000 people. Over 90% of patients present a syndromic form with variable multisystemic involvement, including congenital heart defects, increased visibility of superficial veins (IVSV), inflammatory bowel disease, and congenital urogenital defects as prominent symptoms.

OBJECTIVES: The objective of the study was to study non-hematological phenotypic findings that suggest a clinical diagnosis of SCN4.

METHODS: We examined medical records of patients diagnosed with neutropenia from January 2000 to December 2020, selecting cases with non-hematologic manifestations for phenotypic description and G6PC3 gene sequencing.

RESULTS: We found 11 cases with non-hematologic features: congenital heart defects in 8, IVSV in 6, inflammatory bowel disease in 4, urogenital defects in 4, and similar facial appearance. In addition, Sanger sequencing confirmed 3 homozygous cases for the c.210delC variant, a compound heterozygous harboring this variant, and a c.199_218+1 deletion.

CONCLUSIONS: Our findings of the c.210delC variant in very close geographical settings, to date, have only been reported among Mexicans, and a mutual uncommon surname in two families strongly supports a founder effect for the variant in the studied population. Furthermore, the described non-hematologic symptoms in patients with severe primary neutropenia should be explored, confirming SCN4 by investigating G6PC3 gene mutations.

PMID:36546889 | DOI:10.24875/RIC.22000234

Genet Med. 2022 Dec 19:100002. doi: 10.1016/j.gim.2022.100002. Online ahead of print.

NO ABSTRACT

PMID:36549595 | DOI:10.1016/j.gim.2022.100002

Pediatr Blood Cancer. 2022 Dec 22:e30158. doi: 10.1002/pbc.30158. Online ahead of print.

NO ABSTRACT

PMID:36545911 | DOI:10.1002/pbc.30158

Am J Med Genet A. 2023 Feb;191(2):408-423. doi: 10.1002/ajmg.a.63038. Epub 2022 Dec 21.

ABSTRACT

GM1-gangliosidosis (GM1) is a rare neurodegenerative disorder leading to early mortality and causing progressive decline of physical skills and cerebral functioning. No approved treatment for GM1 exists. In this study-the first to explore priorities of parents of subjects with pediatric onset forms of GM1-we address a crucial gap by characterizing symptoms most critical to caregivers of children with GM1 to treat. Our two-part, mixed-methods approach began with focus groups, followed by interviews with a distinct set of parents. Interviews included a prioritization activity that used best-worst scaling. Quantitative data were analyzed descriptively. Qualitative data were analyzed using thematic analysis and rapid analysis process. Parents prioritized the symptoms they believed would increase their child's lifespan and improve their perceived quality of life (QoL); these symptoms focused on communicating wants/needs, preventing pain/discomfort, getting around and moving one's body, and enhancing eating/feeding. Although lifespan was highly valued, almost all parents would not desire a longer lifespan without acceptable child QoL. Parents indicated high caregiver burden and progressive reduction in QoL for children with GM1. This novel study of caregiver priorities identified important symptoms for endpoints' selection in patient-focused drug development in the context of high disease impact and unmet treatment needs.

PMID:36541412 | DOI:10.1002/ajmg.a.63038

Sci Rep. 2022 Dec 21;12(1):22075. doi: 10.1038/s41598-022-25545-z.

NO ABSTRACT

PMID:36543827 | PMC:PMC9772173 | DOI:10.1038/s41598-022-25545-z

J Med Internet Res. 2022 Dec 21;24(12):e42084. doi: 10.2196/42084.

NO ABSTRACT

PMID:36542454 | DOI:10.2196/42084

Probl Sotsialnoi Gig Zdravookhranenniiai Istor Med. 2022 Dec 15;30(6):1328-1330. doi: 10.32687/0869-866X-2022-30-6-1328-1330.

NO ABSTRACT

PMID:36541317 | DOI:10.32687/0869-866X-2022-30-6-1328-1330

BMC Pediatr. 2022 Dec 21;22(1):728. doi: 10.1186/s12887-022-03789-y.

NO ABSTRACT

PMID:36539748 | PMC:PMC9768959 | DOI:10.1186/s12887-022-03789-y

Orphanet J Rare Dis. 2022 Dec 19;17(1):441. doi: 10.1186/s13023-022-02527-y.

NO ABSTRACT

PMID:36536417 | DOI:10.1186/s13023-022-02527-y

Bull Cancer. 2022 Nov;109(11S):11S1-11S2. doi: 10.1016/S0007-4551(22)00462-3.

NO ABSTRACT

PMID:36535757 | DOI:10.1016/S0007-4551(22)00462-3

Orv Hetil. 2022 Dec 18;163(51):2021-2026. doi: 10.1556/650.2022.32660. Print 2022 Dec 18.

NO ABSTRACT

PMID:36528825 | DOI:10.1556/650.2022.32660

Soc Sci Med. 2023 Jan;317:115613. doi: 10.1016/j.socscimed.2022.115613. Epub 2022 Dec 10.

ABSTRACT

Health policy studies usually conceptualise access to medicines as a result of the institutional configuration of policies, legislation, and pharmaceutical markets. This study adopts a different approach that stems from the sociology of health and Science and Technology Studies (STS). Based on an ethnographically inspired qualitative research of access practices of patients with oncological and rare diseases in Russia, we argue that access to medicines is a fluid and unstable trajectory constructed by the everyday practices of patients. Instead of seeing patients as passive recipients of institutionally arranged access, we focus on their practices of building access and identify four types of work they do to steer their access trajectories in the desired direction. These types of work include persisting work, complying work, adjusting work, and knowing work. In many studies of access, these types of work remain invisible, and thus the efforts and skills that patients need to make access possible remain unnoticed, undervalued, and unaccounted for.

PMID:36527895 | DOI:10.1016/j.socscimed.2022.115613

Orphanet J Rare Dis. 2022 Dec 17;17(1):440. doi: 10.1186/s13023-022-02592-3.

NO ABSTRACT

PMID:36528660 | PMC:PMC9759919 | DOI:10.1186/s13023-022-02592-3

Braz J Otorhinolaryngol. 2022 Nov-Dec;88 Suppl 5:S1-S3. doi: 10.1016/j.bjorl.2022.12.003.

NO ABSTRACT

PMID:36528358 | DOI:10.1016/j.bjorl.2022.12.003

Am J Hum Genet. 2022 Dec 15:S0002-9297(22)00502-X. doi: 10.1016/j.ajhg.2022.11.011. Online ahead of print.

NO ABSTRACT

PMID:36528028 | DOI:10.1016/j.ajhg.2022.11.011

Cancer Treat Rev. 2023 Jan;112:102497. doi: 10.1016/j.ctrv.2022.102497. Epub 2022 Dec 10.

ABSTRACT

High-grade serous ovarian cancers (HGSOCs) most commonly arise from the fimbrial end of the fallopian tube and harbor TP53 gene mutations. In contrast, low-grade serous ovarian cancers (LGSOCs) appear to have different pathological, epidemiological, and clinical features and should be seen as a distinct serous epithelial ovarian cancer subtype. Our current understanding of LGSOC is limited, and treatment has generally been derived from the more common HGSOCs due to a lack of separate trial data. LGSOCs are characterized by slow tumor growth and are assumed to develop from serous borderline ovarian tumors as precursors. These cancers are often estrogen-receptor positive and show an activated mitogen-activated protein kinase pathway together with KRAS and BRAF mutations and, rarely, TP53 mutations. These characteristics are now commonly used to guide therapeutical decision making and, consequently, a substantial part of treatment consists of maintenance with endocrine treatment, thus balancing disease stabilization and mild toxicity. Additionally, new trials are ongoing that examine the role of targeted therapies such as MEK inhibitors in combination with endocrine treatments. The purpose of this work is to summarize current knowledge and present ongoing trial efforts for LGSOCs.

PMID:36525716 | DOI:10.1016/j.ctrv.2022.102497

Clin Epigenetics. 2022 Dec 16;14(1):174. doi: 10.1186/s13148-022-01403-7.

NO ABSTRACT

PMID:36527161 | PMC:PMC9758859 | DOI:10.1186/s13148-022-01403-7