We present three cases of chronic follicular conjunctivitis resulting from the zoonotic transmission of Chlamydia felis from domestic cats. Our objective is to raise awareness regarding the potential zoonotic transmission of Chlamydia felis from domestic cats and describe the methodology for definitive pathogen identification using Polymerase Chain Reaction (PCR) and subsequent sequence analysis, a useful tool in the identification of these rare pathogens. We discuss the factors that could be contributing to the potential under-diagnosis of zoonotic C. felis infections and propose a treatment regime for cases of C. felis-related conjunctivitis.

BACKGROUND: Sparganosis is a rare zoonotic disease caused by plerocercoid larvae of the genera Spirometra or Sparganum (Cestoda: Diphyllobothriidae). The larvae of Spirometra generally do not undergo asexual reproduction, whereas those of Sparganum can induce proliferative lesions in infected tissues. This paper presents an unusual case of proliferative sparganosis due to infection with Spirometra mansoni in a cat, normally considered a definitive host of the species.
METHODS: A 9-year-old male domestic cat was presented with a mass on the right side of the face that underwent progressive enlargement for 1 month. The morphological and histopathological examinations revealed multiple asexual proliferative cestode larvae in the lesions, suggestive of proliferative sparganosis. Next-generation sequencing analysis of formalin-fixed and paraffin-embedded specimens of surgically excised tissue indicated that the worm was Spirometra mansoni.
CONCLUSIONS: Although S. mansoni a common tapeworm species found in the small intestine of domestic cats and dogs in Japan, proliferative sparganosis is extremely rare. This is the first confirmed case of proliferative sparganosis due to infection with S. mansoni in cat.

School refusal (SR) is a form of school attendance problem (SAP) that requires specific mental health care. Despite improvements in the definition of SAPs, the course of SR is not well characterized. To explore three-year patterns of SR course in children, as reported by their parents, we deployed an anonymous web-based survey. We defined SR onset as the absence of ≥ 2 school weeks during one academic year, combined with emotional distress. We defined standard SR trajectories using sequence analysis of parents\' recollection of three consecutive years of school attendance. We obtained 1970 responses, 1328 (67%) completed by a parent and meeting the definition of SR. Of these, 729 (55%) responses included three years of school attendance recollection. We identified five prototypical trajectories of SR: two profiles for children: beaded absences (n = 272), and rapid recovery (n = 132); and three for adolescents: prolonged recovery (n = 93), gradual decline (n = 89), and rapid decline (n = 143). We found five distinct trajectories of retrospective recall of SR course. Through pattern recognition, this typology could help with timely identification of SR and implementation of evidence-based interventions to optimize outcomes. Prospective replication of these findings and their field application is warranted.

Dravet syndrome is a severe form of epilepsy characterised by recurrent seizures and cognitive impairment. It is mainly caused by variant in the SCN1A gene in 90% of cases, which codes for the α subunit of the voltage-gated sodium channel. In this study, we present one suspected case of Dravet syndrome in Moroccan child that underwent exome analysis and were confirmed by Sanger sequencing. The variant was identified in the SCN1A gene, and is a new variant that has never been described in the literature. The variant was found de nova in our case, indicating that it was not inherited from the parents. The variant, SCN1A c.965-2A>G p.(?), is located at the splice site and results in an unknown modification of the protein. This variant is considered pathogenic on the basis of previous studies. These results contribute to our knowledge of the SCN1A gene mutations associated with Dravet syndrome and underline the importance of genetic analysis in the diagnosis and confirmation of this disorder. Further studies are needed to better understand the functional consequences of this variant and its implications for therapeutic strategies in Dravet syndrome.

Congenital muscular dystrophy type 1A (CMD1A) is a rare autosomal recessive disorder caused by mutations in the LAMA2 gene. CMD1A is characterized by peripheral hypotonia and muscle weakness from the first months of life, cerebral white matter abnormalities, and elevated creatine phosphokinase (CPK) levels. We describe an 8-year-old girl from Colombia with clinical features compatible with CMD1A, severe scoliosis corrected with surgery, and feeding difficulty corrected with a gastrostomy. Whole-exome sequencing identified two heterozygous variants: a reported nonsense variant (LAMA2 NM_000426.3:c.4198C>T) and a novel likely pathogenic variant (LAMA2 NM_000426.3:c.9227_9243dup). This is the first genetically confirmed case of CMD1A in Colombia and the first report of the c.9227_9243dup variant causing CMD1A.

The proliferation of genomic sequencing approaches has significantly impacted the field of phylogenetics. Target capture approaches provide a cost-effective, fast and easily applied strategy for phylogenetic inference of non-model organisms. However, several existing target capture processing pipelines are incapable of incorporating whole genome sequencing (WGS). Here, we develop a new pipeline for capture and de novo assembly of the targeted regions using whole genome re-sequencing reads. This new pipeline captured targeted loci accurately, and given its unbiased nature, can be used with any target capture probe set. Moreover, due to its low computational demand, this new pipeline may be ideal for users with limited resources and when high-coverage sequencing outputs are required. We demonstrate the utility of our approach by incorporating WGS data into the first comprehensive phylogenomic reconstruction of the freshwater mussel family Margaritiferidae. We also provide a catalogue of well-curated functional annotations of these previously uncharacterized freshwater mussel-specific target regions, representing a complementary tool for scrutinizing phylogenetic inferences while expanding future applications of the probe set.

UNASSIGNED: Ehlers-Danlos syndrome (EDS) spinal deformity type 2 has clinical features similar to those of spondyloepimetaphyseal dysplasia with joint laxity, type 1 (SEMDJL1). They have similar clinical manifestations and a similar genetic basis, both of which can be caused by mutations in the B3GALT6 gene. Hence, genetic screening and careful clinical examination are key to the differential diagnosis of these two diseases.
UNASSIGNED: A 4-month-old boy was admitted to our hospital in order to find the causes of developmental delay. The clinical examination revealed that the child was delayed, with an excessive range of motion of joints, patent foramen ovale, and was accompanied by skin aging; the child was suspected to have EDS. However, unlike EDS, the child had normal muscle tension, and at the same time had a spinal deformity, mild kyphosis, widened right hip joint space, as well as a special face, joint laxity, and slender fingers, which were typical characteristics of SEMDJL1. A gene analysis showed two suspicious mutations in the B3GALT6 gene: c.808G > A(p.(G270S)) and c.942G > C(p.(W314C)), which were verified to be compound heterozygous mutations by analyzing genes in his parents. This mutation was not included in the HGMD, ClinVar, and other mutation databases, and thus was a newly discovered mutation.
UNASSIGNED: Using the clinical and genetic analyses, this study reported a Chinese case with EDS-like SEMDJL1 for the first time. Two pathogenic mutations were discovered in the B3GALT6 gene: c.808G > A(p.(G270S)) and c.942G > C(p.(W314C)).

We described a clinical, laboratory, and genetic presentation of a pathogenic variant of the CYP1B1 gene through a report of a case of primary congenital glaucoma and a trio analysis of this candidate variant in the family with the sanger sequencing method and eventually completed our study with the secondary/incidental findings. This study reports a rare case of primary congenital glaucoma, an 8-year-old female child with a negative family history of glaucoma and uncontrolled intraocular pressure. This case\'s whole-exome sequencing data analysis presents a homozygous pathogenic single nucleotide variant in the CYP1B1 gene (NM 000104:exon3:c.G1103A:p.R368H). At the same time, this pathogenic variant was obtained as a heterozygous state in her unaffected father but not her mother. The diagnosis was made based on molecular findings of whole-exome sequencing data analysis. Therefore, the clinical reports and bioinformatics findings supported the relation between the candidate pathogenic variant and the disease. However, it should not be forgotten that primary congenital glaucoma is not peculiar to the CYP1B1 gene. Since the chance of developing autosomal recessive disorders with low allele frequency and unrelated parents is extraordinary in offspring. However, further data analysis of whole-exome sequencing and sanger sequencing method were applied to obtain the type of mutation and how it was carried to the offspring.

Sequence comparison is critical for the functional assignment of newly identified protein genes. As uncharacterized protein sequences accumulate, there is an increasing need for sensitive tools for their classification. Here, we present a novel multidimensional scaling pipeline, PaSiMap, which creates a map of pairwise sequence similarities. Uniquely, PaSiMap distinguishes between unique and shared features, allowing for a distinct view of protein-sequence relationships. We demonstrate PaSiMap\'s efficiency in detecting sequence groups and outliers using titin\'s 169 immunoglobulin (Ig) domains. We show that Ig domain similarity is hierarchical, being firstly determined by chain location, then by the loop features of the Ig fold and, finally, by super-repeat position. The existence of a previously unidentified domain repeat in the distal, constitutive I-band is revealed. Prototypic Igs, plus notable outliers, are identified and thereby domain classification improved. This re-classification can now guide future molecular research. In summary, we demonstrate that PaSiMap is a sensitive tool for the classification of protein sequences, which adds a new perspective in the understanding of inter-protein relationships. PaSiMap is applicable to any biological system defined by a linear sequence, including polynucleotide chains.

A case of infant botulism of unknown origin, not involved in honey consumption, occurred in Osaka, Japan in 2020. A Clostridium botulinum type B strain named Osaka2020 was isolated from a stool sample of the patient. To clarify the epidemiology of the case, we performed whole-genome sequencing (WGS) of the isolate and compared it with strains from other sources. WGS analysis revealed that isolate Osaka2020 was classified into ST133 of a new sequence type, B5 subtype, and its toxin gene was encoded in a ∼274 kb plasmid. This plasmid was closely related to the pCLJ plasmid from strain 657Ba in the USA, reported to be conjugatively transferable to other strains. Moreover, isolate Osaka2020 also possesses another smaller plasmid that was common with some type A(B) infant botulism isolates in Japan. The phylogenetic tree from whole-genome SNP analysis showed that isolate Osaka2020 was the most closely related to a type B infant botulism isolate that occurred in Japan 10 years ago. Although no epidemiological connection among the two cases was confirmed, there is possibility that the cases are attributed to common causes such as some environmental substance.