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  • 1
    Online Resource
    Online Resource
    Polineuropatia hipotireóidea em um paciente com síndrome poliglandular autoimune tipo 2: relato de caso
    FapUNIFESP (SciELO) ; 2014
    In:  Arquivos Brasileiros de Endocrinologia & Metabologia Vol. 58, No. 3 ( 2014-04), p. 308-312
    Details
    In: Arquivos Brasileiros de Endocrinologia & Metabologia, FapUNIFESP (SciELO), Vol. 58, No. 3 ( 2014-04), p. 308-312
    Abstract: The incidence of polyneuropathy in patients with hypothyroidism is not precisely known, but some studies report that about 25% to 42% of patients may show neuropathic clinical signs. We report a case of autoimmune poliglandular syndrome type 2 (APS-2), whose initial presentation was hypothyroid polyneuropathy. A 41-year-old man complained of slowly progressive paresthesias and weakness affecting all four limbs, and associated with frequent drowsiness, weakness, cold intolerance, dizziness, nausea, and craving for salt. General physical examination showed hyperpigmentation of skin and mucous membranes, and hypotension. Neurological examination showed global, deep, and symmetrical hyporeflexia with slight signs of superficial hypoesthesia in the limbs. Electrodiagnostic studies (ENMG) together with laboratory tests, confirmed the suspicion of Hashimoto’s thyroiditis associated with Addison’s disease featuring the picture of APS-2. The patient was treated with fludrocortisone 0.05 mg/day and levothyroxine 100 mcg/day, and showed gradual and complete resolution of complaints. Changes were found in general physical and neurological examinations. ENMG repeated six months later showed complete resolution of neuropathy. This report shows a rare case of APS-2 presented as polyneuropathy hypothyroidism, and reinforces the importance of dosing thyroid hormone in polyneuropathy syndromes. Levothyroxine replacement was shown to be effective in reversing clinical and electrophysiologic neuropathy.
    Type of Medium: Online Resource
    ISSN: 0004-2730
    URL: Article
    DOI: 10.1590/0004-2730000003004
    Language: Unknown
    Publisher: FapUNIFESP (SciELO)
    Publication Date: 2014
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  • 2
    Online Resource
    Online Resource
    SUN-085 Clinical and Hormonal Features of 37 Families with Central Precocious Puberty Due to MKRN3 Loss-Of -Function Mutations
    The Endocrine Society ; 2020
    In:  Journal of the Endocrine Society Vol. 4, No. Supplement_1 ( 2020-05-08)
    Details
    In: Journal of the Endocrine Society, The Endocrine Society, Vol. 4, No. Supplement_1 ( 2020-05-08)
    Abstract: Context: Loss-of-function mutations in the maternally imprinted Makorin RING-finger 3 (MKRN3) gene (15q11.2) are the most prevalent cause of familial central precocious puberty (CPP). Objectives: To analyze the phenotypes of a large cohort of children with CPP due to MKRN3 mutations and to compare them with the phenotypes of idiopathic CPP. Setting and Participants: We studied 73 individuals from 37 families with mutations in MKRN3 originating from nine different countries. The phenotypes of these patients at initial diagnosis were compared to a cohort of 124 patients with idiopathic CPP. Additionally, expression of nine different genes implicated with pubertal timing, including MKRN3, was performed in the hypothalamus of female mice in different phases of sexual maturation. Results: Nineteen different heterozygous, paternally inherited mutations in MKRN3 were identified in 73 patients with CPP (48 girls and 25 boys). Six MKRN3 mutations were frameshifts, one introduced a premature stop codon, 11 were missense mutations predicted to be pathogenic, and one was a deletion in the promoter region. A frameshift mutation affecting codon 161 in the amino terminal region of the protein was the most frequent MKRN3 defect (46%), representing a hotspot region. Among the cohort with MKRN3 mutations, first pubertal signs occurred at 6·2 ± 1·2 years in girls and 7·6 ± 1·4 years in boys. Patients harboring severe frameshift/nonsense mutations did not differ significantly in any clinical or hormonal parameters compared to the 20 patients with missense variants. However, when the 48 girls with MKRN3 mutations were compared with 124 idiopathic CPP girls, some parameters could be considered as possible predictors of the genetic cause: a lower age at first medical appointment (7·1 ± 1·1 in the MKRN3 group vs. 8·0 ± 2 years in the idiopathic group; p & lt; 0.001) and a shorter time interval between puberty onset and medical assistance (0·8 ± 0·8 vs 2·2 ± 2·1 years; p & lt; 0.001). Interestingly, the other predictor of MKRN3 mutations was a higher basal FSH level (5·1 ± 2·3 vs 3·9 ± 2·7 IU/L; p = 0.017) at first evaluation, although no cutoff value yielded good accuracy. Patients originating from European/Mediterranean countries were more likely to have missense variants (56% of all mutations) than North American and South American (23%) counterparts (p & lt;0.001). Mouse Mkrn3 mRNA levels in the arcuate nucleus were highest in the prepubertal phase when compared with expression of other genes and Mkrn3 decreased progressively through puberty and adult ages. Conclusions: Different types of loss-of-function MKRN3 mutations were associated with premature sexual development in both sexes. Their phenotypes were relatively uniform, regardless of the mutation type. Clinical features of children with MKRN3 mutations were similar to the idiopathic CPP group.
    Type of Medium: Online Resource
    ISSN: 2472-1972
    URL: Article
    DOI: 10.1210/jendso/bvaa046.1379
    Language: English
    Publisher: The Endocrine Society
    Publication Date: 2020
    detail.hit.zdb_id: 2881023-5
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  • 3
    Online Resource
    Online Resource
    SUN-725 Clinical and Genetic Features of Families with Maternally Inherited Central Precocious Puberty
    The Endocrine Society ; 2020
    In:  Journal of the Endocrine Society Vol. 4, No. Supplement_1 ( 2020-05-08)
    Details
    In: Journal of the Endocrine Society, The Endocrine Society, Vol. 4, No. Supplement_1 ( 2020-05-08)
    Abstract: Context: The clinical recognition of familial central precocious puberty (CPP) has significantly increased in the last years. This fact can be related to the recent descriptions of genetic causes associated with this pediatric condition, such as loss-of-function mutations of two imprinted genes (MKRN3 and DLK1). Inherited defects in both genes cause paternally inherited CPP. However, no genetic abnormality has been described in families with maternally inherited CPP so far. Objectives: To characterize the clinical and genetic features of several families with maternally inherited CPP. Setting and Participants: We analyzed clinical and genetic features of children with familial CPP. No brain MRI alterations were detected in the selected patients with CPP. MKRN3 and DLK1 pathogenic mutations were excluded. Whole-exome sequencing was performed in selected cases. Results: We studied 177 children from 141 families with familial CPP. Paternal inheritance was evidenced in 44 families (31%), whereas 58 (41%) had maternally inheritance. Indeterminate inheritance was detected in the remaining families. Maternally inherited CPP affected mainly female patients (69 girls and two boys). Thelarche occurred at mean age of 6.1 ± 1.9 years in this female group. Most of girls had Tanner 3 (41%) and Tanner 4 (35%) breast development at first evaluation. One boy had additional syndromic features (macrosomia, autism, bilateral eyelid ptosis, high arcade palate, irregular teeth and abnormal gait). The pedigree analysis of patients with maternally inherited CPP revealed the following affected family members: 42 mothers, 10 grandmothers, 11 sisters, 12 aunts, and 11 female cousins. Most of the families (41) had two affected consecutive generations, while eight families had three affected generations. No consanguinity was referred. Ongoing molecular analysis revealed two rare heterozygous variants in the boy with syndromic CPP and three affected family members with precocious menarche (mother, maternally half-sister, and maternally aunt): a frameshift deletion (p.F144fs) in MKKS; and a missense variant (p.P267L) in UGT2B4, which encodes a protein involved in estrogen hydroxylation and it was related to menarche timing in genome-wide association studies. Conclusions: Maternally inherited CPP was diagnosed mainly in girls, who had thelarche at mean age of 6 years old. Dominant pattern of inheritance was more prevalent, with direct maternal transmission in 72% of the studied families. New candidate genes might be implicated with maternally inherited CPP.
    Type of Medium: Online Resource
    ISSN: 2472-1972
    URL: Article
    DOI: 10.1210/jendso/bvaa046.1315
    Language: English
    Publisher: The Endocrine Society
    Publication Date: 2020
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  • 4
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    THU235 Usefulness Of Digital Droplet Polymerase Chain Reaction (ddPCR) For Molecular Diagnosis Of McCune-Albright Syndrome In DNA From Peripheral Blood Leukocytes
    The Endocrine Society ; 2023
    In:  Journal of the Endocrine Society Vol. 7, No. Supplement_1 ( 2023-10-05)
    Details
    In: Journal of the Endocrine Society, The Endocrine Society, Vol. 7, No. Supplement_1 ( 2023-10-05)
    Abstract: Disclosure: A.G. de Faria: None. L.R. Montenegro: None. A.A. Jorge: None. R.S. Jallad: None. R.M. Martin: None. M.C. Fragoso: None. A.P. Canton: None. C.E. Seraphim: None. F.R. Tinano: None. N.C. Pinto: None. B.B. Mendonca: None. A. Latronico: None. V.N. Brito: None. Background: McCune-Albright Syndrome (MAS) is a rare congenital disorder caused by post-zygotic activating mutations in GNAS gene. Due to the mosaic pattern of this disease, mutation abundance is frequently low in several tissues, including blood cells. The emergence of digital droplet Polymerase Chain Reaction (ddPCR) is a breakthrough technology of quantitative PCR useful for a targeted detection and quantification of rare events. Objective: This study aims to identify the GNAS mutation in peripheral blood leukocytes of patients with MAS using ddPCR. Patients and Methods: Thirty-four patients (25 female and 9 male) with typical (classic triad) or atypical (one or two features) MAS were included. DNA was extracted from peripheral blood and was analyzed through ddPCR method. Two ddPCR mutation detection assays were used, each one targeting the p.R201C or p.R201H mutations. For each assay, the Taqman PCR system was used with two fluorescence probes: the first labeled with HEX, targeting de (WT allele), and the second labeled 6-FAM, targeting the (mutated allele). The mixture (reagents + DNA) was divided into 20,000 nanodrops, which was placed on a PCR plate and amplified by PCR. After amplification by PCR, the fluorescence of each droplet was read on the 200 Droplet Digital PCR system (Bio-Rad), being classified as positive (drop containing the target sequence) or negative. Results were analyzed using Quantasoft software (Bio-Rad) to determine the total amount of positive droplets in the original sample. The results were reported in fractional abundance (FA), corresponding to the percentage of mutated alleles within the total alleles. Results: Among all patients, the most common MAS feature was osteofibrous dysplasia (OFD) (73.5%), followed by peripheral precocious puberty (PPP) (64.7%), and café-au-lait skin spots (52.9%). Acromegaly or hyperthyroidism was diagnosed in 6 and 4 patients, respectively. Classical MAS triad, 2 clinical features, or 1 clinical feature (PPP or OFD) were present in 15, 9, and 10 patients, respectively. GNAS mutations were identified in 12/34 (35.3%) MAS patients: the p.R201C in 5 and the p.R201H in 7. Among them, 8 patients presented typical MAS and 4 patients with two MAS clinical features, respectively. Considering only typical MAS group, the positive molecular test rate was 53.3% (8/15). GNAS mutations were not identified in patients with only one MAS feature. There was a positive correlation between a positive molecular test and the number of MAS clinical features (p = 0.01). Median FA was 1.45%, ranged from 0.25% to 8.4%. There was no association between FA rate and the number of MAS clinical features (p=1.0). Conclusion: ddPCR representeds a more sensitive tool for identifying GNAS mutations in peripheral blood leukocytes, even with low abundance, in patients with classical and atypical MAS. Presentation: Thursday, June 15, 2023
    Type of Medium: Online Resource
    ISSN: 2472-1972
    URL: Article
    DOI: 10.1210/jendso/bvad114.1484
    Language: English
    Publisher: The Endocrine Society
    Publication Date: 2023
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  • 5
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    SUN-081 High Throughput Genetic Analysis Revealed Novel Genomic Loci and Candidate Genes Involved in Central Precocious Puberty Associated with Complex Phenotypes
    The Endocrine Society ; 2020
    In:  Journal of the Endocrine Society Vol. 4, No. Supplement_1 ( 2020-05-08)
    Details
    In: Journal of the Endocrine Society, The Endocrine Society, Vol. 4, No. Supplement_1 ( 2020-05-08)
    Abstract: Background: Central precocious puberty (CPP) is mostly described as an isolated entity. Few studies have shown an association of CPP with complex cases or genetic syndromes, but without making inferences on molecular causalities. Objective: To genetically investigate a cohort of patients with CPP associated with complex phenotypes using high throughput methodologies. Patients and methods: From a large cohort of patients with idiopathic CPP followed at a university hospital outpatient clinic, thirty-eight patients were selected for high throughput genetic investigation for presenting at least 3 additional clinical features and conditions, characterizing complex phenotypes. All had normal brain MRI. Pathogenic allelic variants in CPP known genes were initially excluded. All patients were submitted to genomic microarray (SNP or CGH arrays). A subset of patients was also submitted to whole-exome sequencing (11 cases) or target panel sequencing (18 cases). Results: Among the group of 38 patients (35 girls, 4 boys; 21 sporadic, 17 familial), mean age at puberty onset was 5.8 ±2.1 and 8.3 ±3.0 yr in girls and boys, respectively. The more prevalent clinical features described included metabolic, growth and neurocognitive phenotypes; less prevalent features included dysmorphic features and congenital anomalies. Pathogenic or probably pathogenic genetic defects were identified in 9 cases: 5 sporadic (all identified as de novo) and 4 familial. Defects in sporadic cases were as follows: three cases with 7q11.23 deletion (Williams syndrome); one girl with ventricular arrhythmia presenting a rare 1p31.3 duplication, involving NFIA gene coding a transcription factor of NFI family with hypothalamic expression; and one girl with imperforate anus and learning difficulties with rare frameshift variants in AREL1 gene (p.Ser229Aspfs*3) coding an ubiquitin ligase, and TNRC6B gene (p.Gly665Leufs*35) coding a regulator of translational inhibition. In the four familial cases, the genetic defects segregated with CPP in a dominant inheritance mode. Three cases from unrelated families presented growth phenotypes and Xp22.33 deletions, including SHOX gene and other elements. One boy with maternal familial CPP and autism had two rare potentially pathogenic variants: a frameshift deletion in MKKS gene (p.Phe144Leufs*14); and a missense variant (p.Pro267Leu) in UGT2B4 gene. Interestingly, the later gene encodes a protein involved in estrogen hydroxylation and is associated to menarche timing in GWAS. Conclusion: Novel genetic defects were identified in 23% cases of CPP associated with complex phenotypes. Three chromosomal regions represented loci potentially implicated in CPP: Xp22.33, 7q11.23 and 1p31.3. Five genes were identified as candidate genes associated with CPP: NFIA, AREL1, TNRC6B, MKKS and UGT2B4.
    Type of Medium: Online Resource
    ISSN: 2472-1972
    URL: Article
    DOI: 10.1210/jendso/bvaa046.822
    Language: English
    Publisher: The Endocrine Society
    Publication Date: 2020
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  • 6
    Online Resource
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    THU191 Update On The Etiological Diagnosis Of Central Precocious Puberty In Both Sexes
    The Endocrine Society ; 2023
    In:  Journal of the Endocrine Society Vol. 7, No. Supplement_1 ( 2023-10-05)
    Details
    In: Journal of the Endocrine Society, The Endocrine Society, Vol. 7, No. Supplement_1 ( 2023-10-05)
    Abstract: Disclosure: A.P. Canton: None. A. Latronico: None. L.R. Montenegro: None. C.E. Seraphim: None. F.R. Tinano: None. A.G. de Faria: None. B.B. Mendonca: None. V.N. Brito: None. Background: The etiological investigation of central precocious puberty (CPP) has improved with more precise clinical approach, neuroimaging, and genetic studies. CPP can be caused by congenital or acquired conditions, with or without central nervous system (CNS) lesions. More recently, genetic and epigenetic disorders have been identified in children with CPP, previously classified as idiopathic. Objective: To update the etiological diagnosis of a large cohort of children with CPP. Methods: We evaluated retrospectively the distinct etiologies of 292 patients (264 girls) followed in a single university hospital from 2000 to 2022. Among them, 182 patients with CPP without CNS lesions were investigated with genetic/epigenetic studies. We performed Sanger DNA sequencing (n=155), target panel sequencing (n=64), exome sequencing (n=64), genome sequencing (n=5), specific DNA methylation analysis (n=111), and genomic microarray (n=30). Results: Pathological CNS lesions were identified in 51of 292 (17.5%) patients with CPP (17 boys and 34 girls), indicating a prevalence of CNS lesions of 60.7% in boys and 12.9% in girls. These pathological CNS lesions were classified as congenital (n=34) or acquired (n=17). The most common congenital causes were hypothalamic hamartoma (n=20, 11 girls), myelomeningocele (n=4), and neurofibromatosis type 1 (n=2), while the most common acquired causes were hydrocephalus (n=8) and cerebral palsy (n=3). The remaining 241 (82.5%) CPP patients presented without CNS lesions, being classified as apparently idiopathic. In the subset of patients submitted to genetic/epigenetic investigation (n=182; 173 girls, 9 boys), the overall frequency of genetic/epigenetic causes was 12.1% (20 girls, 2 boys); and it was higher in boys (22.2%) than in girls (11.5%). The genetic/epigenetic defects were MKRN3 inactivating mutations (n=8, from 7 families), DLK1 inactivating mutations (n=6, from 2 families), KISS1R activating mutation (n=1), KISS1 activating mutation (n=1), MECP2 mutations (n=2), DDX3X mutation (n=1), and Temple syndrome (n=3). Univariate logistic regression analysis identified positive family history (OR 3.43; 95%CI 1.35-8.69; p=0.009) and associated neurodevelopmental abnormalities (OR 3.53; 95%CI 0.99-12.48; p=0.05) as possible clinical predictors of congenital CPP in patients without CNS lesions. Conclusion: The prevalence of pathological CNS lesions was 17.5%, confirming previous data. Genetic or epigenetic defects were identified in 12.1% of patients with CPP without CNS lesions, and family history and neurodevelopmental abnormalities were predictors of these congenital causes. Our findings evidenced the growing role of congenital causes among children with CPP without CNS lesions. Presentation: Thursday, June 15, 2023
    Type of Medium: Online Resource
    ISSN: 2472-1972
    URL: Article
    DOI: 10.1210/jendso/bvad114.1442
    Language: English
    Publisher: The Endocrine Society
    Publication Date: 2023
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  • 7
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    SAT-227 Long-Term Outcomes of Two Siblings with X-Linked Congenital Adrenal Hypoplasia Due to a Mutation in NR0B1 (DAX1) Gene: Reproductive and Neuropsychiatric Aspects
    The Endocrine Society ; 2020
    In:  Journal of the Endocrine Society Vol. 4, No. Supplement_1 ( 2020-05-08)
    Details
    In: Journal of the Endocrine Society, The Endocrine Society, Vol. 4, No. Supplement_1 ( 2020-05-08)
    Abstract: Background: X-linked congenital adrenal hypoplasia (CAH) is a rare disease caused by mutations in the NR0B1 (DAX-1) gene. Non-classical manifestations have been described, including late-onset adrenal insufficiency (AI) and gonadotropin-independent precocious puberty (GIPP). We report long-term endocrine and neuropsychiatric outcomes of two siblings with CAH due to mutation in NR0B1.Case report: A 2-yr-old boy was referred due to progressive clinical signs of puberty since 6 months of age. At the age of 3 yr, AI was diagnosed, and the molecular analysis revealed a mutation in the NR0B1 (p.Cys65Leufs*6). Glucocorticoid replacement resulted in reduced testicular volume and decreased testosterone levels. At 11 yr, cyproterone acetate was indicated due to pubertal progression and bone age advancement. At 17 yr the patient had incomplete sexual development and no pubarche. Testosterone levels declined, despite pubertal levels of basal and GnRH-stimulated gonadotropin levels, indicating partial hypogonadotropic hypogonadism. Adult height was 156 cm (SDS: -2.7) within his target height of 161 cm (SDS: -2.1). This patient also presented a psychiatric diagnosis of mood disorder and attention-deficit/hyperactivity disorder (ADHD), and was under methylphenidate, topiramate and sertraline. Both the patient and his mother had SNP array performed, which excluded contiguous gene syndrome. His younger brother also harbored the same mutation in the NR0B1, confirmed shortly after birth. AI was diagnosed with 1 month of age. Cortisone acetate and fludrocortisone were initiated. At 11 months of age, he presented signs of pubertal development with an elevated ACTH and testosterone levels with suppressed gonadotropins, confirming the diagnosis of GIPP. He was treated with cyproterone acetate. At 8 yr, a pubertal response to the GnRH test was detected, and leuprorelin was added. At 9 yr, due to the low growth velocity and advanced bone age, rhGH was started. However, this patient presented a poor compliance and severe obesity (BMI 33 kg/m2). Treatment for GIPP and secondary CPP was stopped at 10 yr, with bone age of 13.5 yr and height of 151 cm (SDS: - 2.3). The diagnosis of ADHD and autism spectrum disorder was made after neuropsychiatric assessment and the patient received treatment with methylphenidate and sertraline. Conclusion: Pubertal development of patients with CAH due to NR0B1 mutations can be heterogeneous. However, the intriguing neuropsychiatric features in two siblings may suggest a role of NR0B1 in neuropsychological development or other still unknown underlying genetic defect.
    Type of Medium: Online Resource
    ISSN: 2472-1972
    URL: Article
    DOI: 10.1210/jendso/bvaa046.1359
    Language: English
    Publisher: The Endocrine Society
    Publication Date: 2020
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  • 8
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    SUN-061 Anthropometric and Reproductive Outcomes of Patients with Gonadotropin-Independent Precocious Puberty Due to McCune-Albright Syndrome After Treatment with Distinct Therapeutic Agents
    The Endocrine Society ; 2020
    In:  Journal of the Endocrine Society Vol. 4, No. Supplement_1 ( 2020-05-08)
    Details
    In: Journal of the Endocrine Society, The Endocrine Society, Vol. 4, No. Supplement_1 ( 2020-05-08)
    Abstract: Ovarian estrogen-secreting cysts leading to peripheral precocious puberty (PPP) are some of the major clinical manifestations of the McCune-Albright syndrome (MAS). Therapeutic options for PPP of MAS include tamoxifen, progestational agents, aromatase inhibitors (AI) and anti-androgens that aiming to block sex steroid synthesis or action. Here, we described the anthropometric and reproductive follow-up of patients with PPP of MAS treated with distinct therapeutic agents. Thirteen unrelated girls with MAS were studied. They had PPP combined with café-au-lait spots or/and fibrous dysplasia. All patients were treated with one or more of the following agents: tamoxifen, medroxyprogesterone acetate, aromatase inhibitors (anastrozole or letrozole) and anti-androgens (cyproterone), and, in cases with secondary gonadotropic axis activation, depot GnRHa was used. Patients were evaluated every three months, when height, weight, and Tanner pubertal stage were determined. Vaginal bleeding or other adverse effects were also reviewed. The chronological age (CA) at the diagnosis of PPP was 5.9 ± 2.35 (2.4 to 10.2 years). Thelarche and vaginal bleeding were the first manifestations in 76.9% and 53%, respectively. The first choice of treatment was tamoxifen in 30.7% of the patients, followed by aromatase inhibitors (23%) and medroxyprogesterone acetate in 23% of them. Tamoxifen plus medroxyprogesterone, or cyproterone, or leuprorelin were used (each one) as the first choice in 1 patient (7.6%). Eight patients (61%) presented secondary central precocious puberty and were treated with depot GnRHa. Vaginal bleeding was recurrent in 70% of patients, during treatment. Progression of breast Tanner stage during treatment occurred in 78% of the patients. The great majority (80%) of girls presented bone age (BA) advancement at the diagnosis of PPP (mean Δ BA - CA of 3.2±1.3 yr), which was normalized for chronological age in all except one patient. The mean duration of treatment was 5.8 ± 3.4 yr (ranging from 1 to 12 yr). Three patients are still under medical treatment. Hypertrichosis and uterine enlargement were the main side effects of tamoxifen in 3 and 5 patients, respectively. One patient treated with letrozole presented laboratory hyperandrogenism. Ten patients reached their adult height (149.9 ± 7.9 cm), 60% of them were below their target height. Menarche occurred at a median age of 11.8 yr (10.4 to 14 y), and all but one patient presented regular menstrual cycles. One patient spontaneously became pregnant. Despite a reasonable number of treatment options for peripheral PP in MAS, none of them showed proven effective results in stopping vaginal bleeding, reduce pubertal progression and preserving potential genetic adult height. Therefore, due to the extremely heterogeneous nature of PPP of MAS, the clinical treatment remains a challenge.
    Type of Medium: Online Resource
    ISSN: 2472-1972
    URL: Article
    DOI: 10.1210/jendso/bvaa046.1730
    Language: English
    Publisher: The Endocrine Society
    Publication Date: 2020
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  • 9
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    Oral Fluvoxamine With Inhaled Budesonide for Treatment of Early-Onset COVID-19 : A Randomized Platform Trial
    American College of Physicians ; 2023
    In:  Annals of Internal Medicine Vol. 176, No. 5 ( 2023-05), p. 667-675
    Details
    In: Annals of Internal Medicine, American College of Physicians, Vol. 176, No. 5 ( 2023-05), p. 667-675
    Type of Medium: Online Resource
    ISSN: 0003-4819 , 1539-3704
    URL: Article
    DOI: 10.7326/M22-3305
    RVK:
    XA 23600
    Language: English
    Publisher: American College of Physicians
    Publication Date: 2023
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  • 10
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    Brazilian Flora 2020: Leveraging the power of a collaborative scientific network
    Wiley ; 2022
    In:  TAXON Vol. 71, No. 1 ( 2022-02), p. 178-198
    Details
    In: TAXON, Wiley, Vol. 71, No. 1 ( 2022-02), p. 178-198
    Abstract: The shortage of reliable primary taxonomic data limits the description of biological taxa and the understanding of biodiversity patterns and processes, complicating biogeographical, ecological, and evolutionary studies. This deficit creates a significant taxonomic impediment to biodiversity research and conservation planning. The taxonomic impediment and the biodiversity crisis are widely recognized, highlighting the urgent need for reliable taxonomic data. Over the past decade, numerous countries worldwide have devoted considerable effort to Target 1 of the Global Strategy for Plant Conservation (GSPC), which called for the preparation of a working list of all known plant species by 2010 and an online world Flora by 2020. Brazil is a megadiverse country, home to more of the world's known plant species than any other country. Despite that, Flora Brasiliensis , concluded in 1906, was the last comprehensive treatment of the Brazilian flora. The lack of accurate estimates of the number of species of algae, fungi, and plants occurring in Brazil contributes to the prevailing taxonomic impediment and delays progress towards the GSPC targets. Over the past 12 years, a legion of taxonomists motivated to meet Target 1 of the GSPC, worked together to gather and integrate knowledge on the algal, plant, and fungal diversity of Brazil. Overall, a team of about 980 taxonomists joined efforts in a highly collaborative project that used cybertaxonomy to prepare an updated Flora of Brazil, showing the power of scientific collaboration to reach ambitious goals. This paper presents an overview of the Brazilian Flora 2020 and provides taxonomic and spatial updates on the algae, fungi, and plants found in one of the world's most biodiverse countries. We further identify collection gaps and summarize future goals that extend beyond 2020. Our results show that Brazil is home to 46,975 native species of algae, fungi, and plants, of which 19,669 are endemic to the country. The data compiled to date suggests that the Atlantic Rainforest might be the most diverse Brazilian domain for all plant groups except gymnosperms, which are most diverse in the Amazon. However, scientific knowledge of Brazilian diversity is still unequally distributed, with the Atlantic Rainforest and the Cerrado being the most intensively sampled and studied biomes in the country. In times of “scientific reductionism”, with botanical and mycological sciences suffering pervasive depreciation in recent decades, the first online Flora of Brazil 2020 significantly enhanced the quality and quantity of taxonomic data available for algae, fungi, and plants from Brazil. This project also made all the information freely available online, providing a firm foundation for future research and for the management, conservation, and sustainable use of the Brazilian funga and flora.
    Type of Medium: Online Resource
    ISSN: 0040-0262 , 1996-8175
    URL: Issue
    URL: Article
    DOI: 10.1002/tax.v71.1
    DOI: 10.1002/tax.12640
    Language: English
    Publisher: Wiley
    Publication Date: 2022
    detail.hit.zdb_id: 2081189-5
    detail.hit.zdb_id: 204216-2
    SSG: 12
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