Search

Tujuan penelitian ini Untuk mengetahui lebih mendalam bagaimana peran dan fungsi sekretaris pembantu pimpinan dalam pembantu pimpinan di Universitas Negeri Semarang, dan kendala dalam melaksanakan peran dan fungsi sekretaris, maka perlu dilakukan penelitian dengan pendekatan kualitatif serta dengan model analisis data Miles dan Huberman. Hasil penelitian berdasarkan dari observasi, wawancara dan dokumentasi diperoleh informasi bahwa sekretaris pembantu pimpinan memiliki 7 peran yaitu beranda perusahaan dengan menyeleksi tamu, pengelola surat masuk yang ditujukan kepada pimpinan, pelaksana tugas sehari-hari untuk membantu pimpinan, pemegang rahasia atas informasi yang terkait lembaga, pemberi masukan dala hal-hal teknis, penghubung antara pimpinan dengan pegawai lain, dan perawat serta pelindung pimpinan. Sekretaris juga memiliki 4 fungsi yaitu berdasarkan ruang lingkup tugas sekretaris yang terdiri dari memberikan jasa administratif, menjamin kelancaran dan bertanggungjawab atas aktivitas rutin pekerjaannya, sebagai staf yang membantu pimpinan, dan fungsi berdasarkan hubungan dengan pimpinan. Kendala yang ditemui yaitu perubahan instruksi mendadak, tugas di luar kemampuan, volume pekerjaan berlebih, ketidaksesuaian tugas, pelaksanaan tugas tidak sesuai prosedur, serta sarana dan prasarana yang masih kurang. Berdasarkan hasil penelitian di atas, dapat diambil simpulan bahwa beragam peran dan fungsi yang dilaksanakan sekretaris pembantu pimpinan untuk membantu dan memperlancar pekerjaan pimpinan. Saran yang berkaitan dengan hasil penelitian ini yaitu Unnes meninjau tupoksi sekretaris pembantu pimpinan agar tidak ada butir-butir tupoksi yang tidak dilaksanakan. The objective of the study was to understand the roles and functions of private secretary at Semarang State University and the difficult about that. It was a qualitative study, than the data were analyzed by Miles & Huberman interaction model.The data were collected by observation, interview and documentation. The result of the study showed private secretary have 7 roles : the company homepage by selecting the guests, managing incoming mail to the chief, as the executive of daily tasks to help the executive, secret holder of the information related to the institution, giving feedback on technical matters, a liaison officer between the executive and other employees, a caretaker as well as an executive protector. Secretary also have 4 functions : includes providing administrative services, ensure the smooth and be responsible for routine work activities, as the staff who help the executive, and function based on the relationship with the executive. Obstacles are sudden instruction change, a task beyond the capability, excessive work volume, inappropriate tasks, task execution is not in accordance with procedures, and infrastructures which are still lacking. Then it is concluded that the roles and functins of private secretary at Semarang State University are to assist and facilitate the executive work. Therefore, it is suggested Unnes to review the private secretary executive duties so that there is no a single duty that is not implemented.

Bardet-Biedl syndrome (BBS) is a ciliopathy characterized by retinitis pigmentosa, obesity, polydactyly, cognitive impairment and renal failure. Pathogenic variants in 24 genes account for the molecular basis of >80% of cases. Toward saturated discovery of the mutational basis of the disorder, we carefully explored our cohorts and identified a hominid-specific SINE-R/VNTR/Alu type F (SVA-F) insertion in exon 13 of BBS1 in eight families. In six families, the repeat insertion was found in trans with c.1169 T > G, p.Met390Arg and in two families the insertion was found in addition to other recessive BBS loci. Whole genome sequencing, de novo assembly and SNP array analysis were performed to characterize the genomic event. This insertion is extremely rare in the general population (found in 8 alleles of 8 BBS cases but not in >10 800 control individuals from gnomAD-SV) and due to a founder effect. Its 2435 bp sequence contains hallmarks of LINE1 mediated retrotransposition. Functional studies with patient-derived cell lines confirmed that the BBS1 SVA-F is deleterious as evidenced by a significant depletion of both mRNA and protein levels. Such findings highlight the importance of dedicated bioinformatics pipelines to identify all types of variation., (© 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Bardet-Biedl syndrome (BBS) is a rare ciliopathy with variable retinal dystrophy, polydactyly, renal abnormalities, obesity, cognitive impairment, and hypogonadism. Biallelic pathogenic variants have been identified in 24 genes, leading to BBS in an autosomal recessive inheritance pattern. In this study, we investigated a cohort of 16 families (20 individuals) presenting with typical BBS originating from La Réunion Island using sequencing (Sanger and high-throughput methods) and SNP array. In eight families (12 individuals) we identified the same ARL6/BBS3 variation [c.535G > A, p.(Asp179Asn)]. Bioinformatics and functional analyses revealed an effect of this variant on the splicing of ARL6/BBS3. Owing to the relatively high frequency of this variant, a possible founder effect was suspected. Genotyping of six individuals revealed a common 3.8-Mb haplotype and estimated the most recent common ancestor to about eight generations confirmed by the known genealogy. Knowledge of this founder effect modifies our diagnostic strategy and enables a personalized genetic counseling for patients from La Réunion Island. Being the first description of BBS patients from La Réunion Island, we could estimate its prevalence between ~1/45000 and ~ 1/66000 individuals., (© 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Bardet-Biedl syndrome (BBS) is an emblematic ciliopathy associated with retinal dystrophy, obesity, postaxial polydactyly, learning disabilities, hypogonadism and renal dysfunction. Before birth, enlarged/cystic kidneys as well as polydactyly are the hallmark signs of BBS to consider in absence of familial history. However, these findings are not specific to BBS, raising the problem of differential diagnoses and prognosis. Molecular diagnosis during pregnancies remains a timely challenge for this heterogeneous disease (22 known genes). We report here the largest cohort of BBS fetuses to better characterize the antenatal presentation. Prenatal ultrasound (US) and/or autopsy data from 74 fetuses with putative BBS diagnosis were collected out of which molecular diagnosis was established in 51 cases, mainly in BBS genes (45 cases) following the classical gene distribution, but also in other ciliopathy genes (6 cases). Based on this, an updated diagnostic decision tree is proposed. No genotype/phenotype correlation could be established but postaxial polydactyly (82%) and renal cysts (78%) were the most prevalent symptoms. However, autopsy revealed polydactyly that was missed by prenatal US in 55% of the cases. Polydactyly must be carefully looked for in pregnancies with apparently isolated renal anomalies in fetuses., (© 2019 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Ciliopathies represent a wide spectrum of rare diseases with overlapping phenotypes and a high genetic heterogeneity. Among those, IFT140 is implicated in a variety of phenotypes ranging from isolated retinis pigmentosa to more syndromic cases. Using whole-genome sequencing in patients with uncharacterized ciliopathies, we identified a novel recurrent tandem duplication of exon 27-30 (6.7 kb) in IFT140, c.3454-488_4182+2588dup p.(Tyr1152_Thr1394dup), missed by whole-exome sequencing. Pathogenicity of the mutation was assessed on the patients' skin fibroblasts. Several hundreds of patients with a ciliopathy phenotype were screened and biallelic mutations were identified in 11 families representing 12 pathogenic variants of which seven are novel. Among those unrelated families especially with a Mainzer-Saldino syndrome, eight carried the same tandem duplication (two at the homozygous state and six at the heterozygous state). In conclusion, we demonstrated the implication of structural variations in IFT140-related diseases expanding its mutation spectrum. We also provide evidences for a unique genomic event mediated by an Alu-Alu recombination occurring on a shared haplotype. We confirm that whole-genome sequencing can be instrumental in the ability to detect structural variants for genomic disorders., (© 2018 Wiley Periodicals, Inc.)

Mutations in PQBP1 were recently identified in families with syndromic and non-syndromic X-linked mental retardation (XLMR). Clinical features frequently associated with MR were microcephaly and/or short stature. The predominant mutations detected so far affect a stretch of six AG dinucleotides in the polar-amino-acid-rich domain (PRD), causing frameshifts in the fourth coding exon. We searched for PQBP1 exon 4 frameshifts in 57 mentally retarded males in whom initial referral description indicated at least one of the following criteria: microcephaly, short stature, spastic paraplegia or family history compatible with XLMR, and in 772 mentally retarded males not selected for specific clinical features or family history. We identified a novel frameshift mutation (23 bp deletion) in two half-brothers with specific clinical features, and performed prenatal diagnosis in this family. We also found two different 21 bp in-frame deletions (c.334-354del(21 bp) and c.393-413del(21 bp)) in four unrelated probands from various ethnic origins, each deleting one of five copies of an imperfect seven amino-acid repeat. Although such deletions have not been detected in 1180 X chromosomes from European controls, the c. 334-354del(21 bp) was subsequently found in two of 477 Xs from Indian controls. We conclude that pathogenic frameshift mutations in PQBP1 are rare in mentally retarded patients lacking specific associated signs and that the 21 bp in-frame deletions may be non-pathogenic, or alternatively could act subtly on PQBP1 function. This touches upon a common dilemma in XLMR, that is, how to distinguish between mutations and variants that may be non-pathogenic or represent risk factors for cognitive impairment.