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Silver-Russell Syndrome (SRS) is a disorder that is primarily characterised by intrauterine growth restriction which may occur asymmetrically or in whole, leading to a fetus being small relative to its gestational age. We present a female infant (proband) born in 2018 at a tertiary hospital in Muscat, Oman, with severe congenital anomalies. The proband carried a >25Mb duplication of the chromosomal 11p15-11pter locus of chromosome 13; creating a derivative chromosome 13 (der[13]) and was reported as 46,XX,der(13)add(11p15-11pter). A methylation-sensitive assay confirmed a diagnosis of SRS. Although the prognosis for SRS patients is generally good, the proband presented with a clinically severe phenotype culminating in death at the age of nine months. To the best of the authors' knowledge, this is the first report of a derivative chromosome 13 with a duplicated 11p15 locus in a patient with SRS., (© Copyright 2023, Sultan Qaboos University Medical Journal, All Rights Reserved.)

Bidirectional wavelength-tunable mode-locked fiber lasers have demands for many applications. In our experiment, two frequency combs from a single bidirectional carbon nanotube mode-locked erbium-doped fiber laser are obtained. Continuous wavelength tuning is demonstrated in the bidirectional ultrafast erbium-doped fiber laser for the first time. We utilized the microfiber assisted differential loss-control effect on both directions to tune operation wavelength and it presents different wavelength tuning performances in two directions. Correspondingly, the repetition rate difference can be tuned from 98.6 Hz to 32 Hz by applying strain on microfiber within 23 µm stretching length. In addition, a minor repetition rate difference variation of 4.5 Hz is achieved. Such technique may provide possibility to expand wavelength range of dual-comb spectroscopy and broad its application fields.

We examine the implication of intracavity nonlinearity for harmonic mode locking (HML) by exploiting highly nonlinear fiber in a carbon nanotube film mode-locked Er-doped fiber laser. It is found that the reasonably large nonlinearity is of benefit to increase the extent of harmonic order while the excessive nonlinearity leads to some peculiar multi-pulse patterns such as noise-like pulse and soliton rain. Via appropriate nonlinearity management, nearly 4 GHz repetition rate pulses at the 91st harmonic with 936 fs pulse duration are delivered under the pump power of 280 mW. The pulse stability is evidenced by the super-mode suppression ratio of 35.6 dB. To the best of our knowledge, it is the highest repetition rate yet reported for a passively HML fiber laser based on a film-type physical saturable absorber. Furthermore, the laser exhibits steep pumping efficiency slope of ${\gt}{19}\;{\rm MHz/mW}$, which is also a record among all of the passively HML fiber lasers.

Here we reported on the genetic findings of a 9-year-old Omani boy with a rare inherited bone disorder. The patient's clinical features include dysmorphic facial features, short stature, and skeletal abnormalities. Exome sequence of the patient's deoxyribonucleic acid revealed a variant in the cathepsin K gene, which was confirmed by Sanger sequencing. These findings established the diagnosis of pycnodysostosis (PKND). To the best of the authors' knowledge, this case is the first case to be reported in the Gulf Cooperative Region of the novel PKND with molecular confirmation., Competing Interests: Conflict of interest None declared., (Thieme. All rights reserved.)

Spondylo-ocular syndrome (SOS) is a rare autosomal recessive disorder and affects primarily ocular and spinal tissues. This case report presented an Omani child with a novel homozygous variant, c.2070 G > A (p.Trp690Ter) in XYLT2 associated with SOS for the first time. Oman and other Middle East countries have a high consanguine marriage rate. Our case report will increase knowledge of SOS syndrome to be able to provide genetic diagnosis and counseling for other family members and families as well as prenatal diagnostics for the future pregnancies., Competing Interests: Conflict of Interest None declared., (Thieme. All rights reserved.)

This is a first case report of a patient with hypohidrotic ectodermal dysplasia from Oman, who was found to carry a mutation in the EDAR gene after candidate gene selection based on regions of homozygosity in his genome., Competing Interests: All authors attest that they have no conflict of interests to declare., (© 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.)

Neurofibromatosis-1 phenotype combined with webbed neck and short stature in a young Omani patient was revealed to be due to a de novo germ-line heterozygous 1.7 Mb microdeletion at 17q11.2. This lead to the diagnosis of NF1 microdeletion syndrome.

The complex nonlinear dynamics of mode-locked fibre lasers, including a broad variety of dissipative structures and self-organization effects, have drawn significant research interest. Around the 2 μm band, conventional saturable absorbers (SAs) possess small modulation depth and slow relaxation time and, therefore, are incapable of ensuring complex inter-pulse dynamics and bound-state soliton generation. We present observation of multi-soliton complex generation in mode-locked thulium (Tm)-doped fibre laser, using double-wall carbon nanotubes (DWNT-SA) and nonlinear polarisation evolution (NPE). The rigid structure of DWNTs ensures high modulation depth (64%), fast relaxation (1.25 ps) and high thermal damage threshold. This enables formation of 560-fs soliton pulses; two-soliton bound-state with 560 fs pulse duration and 1.37 ps separation; and singlet+doublet soliton structures with 1.8 ps duration and 6 ps separation. Numerical simulations based on the vectorial nonlinear Schr¨odinger equation demonstrate a transition from single-pulse to two-soliton bound-states generation. The results imply that DWNTs are an excellent SA for the formation of steady single- and multi-soliton structures around 2 μm region, which could not be supported by single-wall carbon nanotubes (SWNTs). The combination of the potential bandwidth resource around 2 μm with the soliton molecule concept for encoding two bits of data per clock period opens exciting opportunities for data-carrying capacity enhancement.

The unique properties of carbon nanotubes have made them the material of choice for many current and future industrial applications. As a consequence of the increasing development of nanotechnology, carbon nanotubes show potential threat to health and environment. Therefore, development of efficient method for detection of carbon nanotubes is required. In this work, we have studied the interaction of indopentamethinedioxaborine dye (DOB-719) and single-walled carbon nanotubes (SWNTs) using absorption and photoluminescence (PL) spectroscopy. In the mixture of the dye and the SWNTs we have revealed new optical features in the spectral range of the intrinsic excitation of the dye due to resonance energy transfer from DOB-719 to SWNTs. Specifically, we have observed an emergence of new PL peaks at the excitation wavelength of 735 nm and a redshift of the intrinsic PL peaks of SWNT emission (up to 40 nm) in the near-infrared range. The possible mechanism of the interaction between DOB-719 and SWNTs has been proposed. Thus, it can be concluded that DOB-719 dye has promising applications for designing efficient and tailorable optical probes for the detection of SWNTs.

Purpose: We have previously described two families with unique phenotypes involving foveal hypoplasia. The first family (F1) presented with foveal hypoplasia and anterior segment dysgenesis, and the second family (F2) presented with foveal hypoplasia and chiasmal misrouting in the absence of albinism. A genome-wide linkage search in family F1 identified a 6.5 Mb locus for this disorder on chromosome 16q23.2-24.1. The aim of this study was to determine if both families have the same disorder and to see if family F2 is also linked to the 16q locus., Methods: Family members underwent routine clinical examination. Linkage was determined by genotyping microsatellite makers and calculating logarithm of the odds (LOD) scores. Locus refinement was undertaken with single nucleotide polymorphism (SNP) microarray analysis., Results: The identification of chiasmal misrouting in family F1 and anterior segment abnormalities in family F2 suggested that the families have the same clinical phenotype. This was confirmed when linkage analysis showed that family F2 also mapped to the 16q locus. The single nucleotide polymorphism microarray analysis excluded a shared founder haplotype between the families and refined the locus to 3.1 Mb., Conclusions: We report a new recessively inherited syndrome consisting of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis, which we have abbreviated to FHONDA syndrome. The gene mutated in this disorder lies within a 3.1 Mb interval containing 33 genes on chromosome 16q23.3-24.1 (chr16:83639061 - 86716445, hg19).