Aktivitas Antidiabetes Fraksi N-heksan Ekstrak Etanol Daun Lenglengan (Leucas Lavandulifolia Je. Smith) Pada Tikus Neonatal Stz-induced Type-2 Diabetes Mellitus

Dalam penelitian ini, kami melakukan fraksinasi ekstrak etanol daun lenglengan dengan pelarut n-heksan untuk menyederhanakan kandungan zat aktif yang terkandung di dalamnya dan mengevaluasi efek antidiabetesnya. Penelitian ini bertujuan untuk mengevaluasi efek antidiabetes fraksi n-heksan ekstrak etanol daun lenglengan (FHDL) pada tikus neonatal STZ-induced type-2 diabetes mellitus. STZ 90 μg/KgBB diberikan secara i.p pada 35 ekor anak tikus galur Wistar umur 2 hari. Pada usia 3 bulan, dilakukan pengukuran kadar glukosa pre-prandial dan post-prandial. Sebanyak 25 ekor tikus neonatal STZ-induced type-2 diabetes mellitus dikelompokkan ke dalam lima kelompok perlakuan, terdiri dari kelompok kontrol diabetes (CMC-Na 0,5%; 25 mL/KgBB), kelompok glibenklamid 5 mg/KgBB dan tiga kelompok FHDL (62,5; 125 and 250) mg/KgBB. Sediaan uji diberikan selama 28 hari. Kadar glukosa darah pre-prandial dan post-prandial diukur pada hari ke-0, 7, 14 dan 28. FHDL secara signifikan berhasil menurunkan kadar glukosa darah pre-prandial dan post-prandial tikus neonatal STZ-induced type-2 diabetes mellitus (p<0,05). Perlakuan FHDL 62,5 mg/KgBB selama 28 hari memiliki efek antidiabetes yang tinggi, yaitu mampu menurunkan kadar glukosa darah pre-prandial tikus sebesar 45,99%. Perlakuan FHDL 250 mg/KgBB juga signifikan menurunkan kadar glukosa darah post-prandial tikus (p<0,05) dengan efek antidiabetes pada hari ke-7, 14 dan 28 berturut-turut adalah sebesar 19,28%; 22,68% dan 24,92%

Investigation of the role of SDHB inactivation in sporadic phaeochromocytoma and neuroblastoma

Germline mutations in the succinate dehydrogenase (SDH) (mitochondrial respiratory chain complex II) subunit B gene, SDHB, cause susceptibility to head and neck paraganglioma and phaeochromocytoma. Previously, we did not identify somatic SDHB mutations in sporadic phaeochromocytoma, but SDHB maps to 1p36, a region of frequent loss of heterozygosity (LOH) in neuroblastoma as well. Hence, to evaluate SDHB as a candidate neuroblastoma tumour suppressor gene (TSG) we performed mutation analysis in 46 primary neuroblastomas by direct sequencing, but did not identify germline or somatic SDHB mutations. As TSGs such as RASSF1A are frequently inactivated by promoter region hypermethylation, we designed a methylation-sensitive PCR-based assay to detect SDHB promoter region methylation. In 21% of primary neuroblastomas and 32% of phaeochromocytomas (32%) methylated (and unmethylated) alleles were detected. Although promoter region methylation was also detected in two neuroblastoma cell lines, this was not associated with silencing of SDHB expression, and treatment with a demethylating agent (5-azacytidine) did not increase SDH activity. These findings suggest that although germline SDHB mutations are an important cause of phaeochromocytoma susceptibility, somatic inactivation of SDHB does not have a major role in sporadic neural crest tumours and SDHB is not the target of 1p36 allele loss in neuroblastoma and phaeochromocytoma

Notulae to the Italian native vascular flora: 2

In this contribution new data concerning the Italian distribution of native vascular flora are presented. It includes new records, exclusions, and confirmations to the Italian administrative regions for taxa in the genera Arctostaphylos, Artemisia, Buglossoides, Convolvulus, Crocus, Damasonium, Epipogium, Ficaria, Filago, Genista, Heptaptera, Heracleum, Heteropogon, Hieracium, Myosotis, Ononis, Papaver, Pilosella, Polygonum, Pulmonaria, Scorzonera, Silene, Trifolium, Vicia and Viola

Global and Regional IUCN Red List Assessments: 3

In this contribution, the conservation status assessment of four vascular plants are presented according to IUCN categories and criteria. It includes the assessment at global level of Crepis lacera Ten subsp. titani (Pamp.) Roma-Marzio, G.Astuti & Peruzzi and Anthyllis hermanniae L. subsp. sicula Brullo & Giusso and the regional assessment of Commicarpus plumbagineus (Cav.) Standl. (Spain and Europe) and Ambrosia maritima L. (Italy)

A de novo paradigm for male infertility

De novo mutations are known to play a prominent role in sporadic disorders with reduced fitness. We hypothesize that de novo mutations play an important role in severe male infertility and explain a portion of the genetic causes of this understudied disorder. To test this hypothesis, we utilize trio-based exome sequencing in a cohort of 185 infertile males and their unaffected parents. Following a systematic analysis, 29 of 145 rare (MAF < 0.1%) protein-altering de novo mutations are classified as possibly causative of the male infertility phenotype. We observed a significant enrichment of loss-of-function de novo mutations in loss-of-function-intolerant genes (p -value = 1.00 × 10 −5) in infertile men compared to controls. Additionally, we detected a significant increase in predicted pathogenic de novo missense mutations affecting missense-intolerant genes (p -value = 5.01 × 10 −4) in contrast to predicted benign de novo mutations. One gene we identify, RBM5, is an essential regulator of male germ cell pre-mRNA splicing and has been previously implicated in male infertility in mice. In a follow-up study, 6 rare pathogenic missense mutations affecting this gene are observed in a cohort of 2,506 infertile patients, whilst we find no such mutations in a cohort of 5,784 fertile men (p -value = 0.03). Our results provide evidence for the role of de novo mutations in severe male infertility and point to new candidate genes affecting fertility. Germline de novo mutations can impact individual fitness, but their role in human male infertility is understudied. Trio-based exome sequencing identifies many new candidate genes affecting male fertility, including an essential regulator of male germ cell pre-mRNA splicing

Notulae to the Italian alien vascular flora: 14

In this contribution, new data concerning the distribution of vascular flora alien to Italy are presented. It includes new records, confirmations, and status changes for Italy or for Italian administrative regions. Nomenclatural and distribution updates, published elsewhere, and corrections are provided as Suppl. material 1