Interstitial granulomatous dermatitis (Ackerman's syndrome) in SLE presenting with the 'rope sign'

A 50-yr-old man presented with synovitis of the metacarpophalangealjoints, Raynaud's phenomenon, recurrent pericarditis and a linearpalpable rash in both axillae.     

Percutaneous nephrolithotomy of a staghorn stone in thoracic ectopic kidney

Congenital thoracic ectopic kidney is a very rare developmental anomaly and the rarest form of all ectopic kidneys. It is usually asymptomatic and discovered incidentally on routine chest radiography. Herein we reported the first case of staghorn stone in a thoracic kidney managed successfully by percutaneous nephrolithotomy.     

A case of Sturge-Weber syndrome in association with phacomatosis pigmentovascularis and developmental glaucoma.

Sturge-Weber syndrome is a rare neurocutaneous disorder characterized by a facial nevus flammeus and extensive angiomatous changes involving the leptomeninges, the dura, and vessels of the gray and white matter. Oculodermal melanocytosis is characterized by hyperpigmentation of the facial skin in the distribution of the ophthalmic, maxillary, and occasionally mandibular division of the trigeminal nerve.     

Preoperative assessment of parapharyngeal tumour

Due to deep seated location and presence of vital structures, the tumours of the parapharyngeal space poses difficulty in its early diagnosis, histological nature and surgical extirpation. Modes of radiological assessment in pre-computed tomography (GT) scan era were sialography of the parotid gland to see whether the tumour is of salivary origin and angiography to note the vascularity of the tumour. Post CT scan era has changed the assessment protocol. In this article, the authors have tried to make a comparative evalua?tion between non-contrast GT, GT with systemic contrast and GT sialogram in 14 cases of parapharyngeal tumours. Angiography was done only when the tumours showed marked enhancement with systemic contrast. Subsequently, 13 patients underwent surgery for removal of the mass. Application of high-resolution GT helped in not only to see the extent of the tumour but also to pinpoint the probable histologic nature.     

Gliding motility leads to active cellular invasion by Cryptosporidium parvum sporozoites

We examined gliding motility and cell invasion by an early-branching apicomplexan, Cryptosporidium parvum, which causes diarrheal disease in humans and animals. Real-time video microscopy demonstrated that C. parvum sporozoites undergo circular and helical gliding, two of the three stereotypical movements exhibited by Toxoplasma gondii tachyzoites. C. parvum sporozoites moved more rapidly than T. gondii sporozoites, which showed the same rates of motility as tachyzoites. Motility by C. parvum sporozoites was prevented by latrunculin B and cytochalasin D, drugs that depolymerize the parasite actin cytoskeleton, and by the myosin inhibitor 2,3-butanedione monoxime. Imaging of the initial events in cell entry by Cryptosporidium revealed that invasion occurs rapidly; however, the parasite does not enter deep into the cytosol but rather remains at the cell surface in a membrane-bound compartment. Invasion did not stimulate rearrangement of the host cell cytoskeleton and was inhibited by cytochalasin D, even in host cells that were resistant to the drug. Our studies demonstrate that C. parvum relies on a conserved actin-myosin motor for motility and active penetration of its host cell, thus establishing that this is a widely conserved feature of the Apicomplexa.     

Phenotypic expansion of Bosch–Boonstra–Schaaf optic atrophy syndrome and further evidence for genotype–phenotype correlations

Bosch–Boonstra–Schaaf Optic Atrophy Syndrome (BBSOAS) is an autosomal dominant neurodevelopmental disorder caused by loss‐of‐function variants in NR2F1 and characterized by visual impairment, developmental delay, and intellectual disability. Here we report 18 new cases, provide additional clinical information for 9 previously reported individuals, and review an additional 27 published cases to present a total of 54 patients. Among these are 22 individuals with point mutations or in‐frame deletions in the DNA‐binding domain (DBD), and 32 individuals with other types of variants including whole‐gene deletions, nonsense and frameshift variants, and point mutations outside the DBD. We corroborate previously described clinical characteristics including developmental delay, intellectual disability, autism spectrum disorder diagnoses/features thereof, cognitive/behavioral anomalies, hypotonia, feeding difficulties, abnormal brain MRI findings, and seizures. We also confirm a vision phenotype that includes optic nerve hypoplasia, optic atrophy, and cortical visual impairment. Additionally, we expand the vision phenotype to include alacrima and manifest latent nystagmus (fusional maldevelopment), and we broaden the behavioral phenotypic spectrum to include a love of music, an unusually good long‐term memory, sleep difficulties, a high pain tolerance, and touch sensitivity. Furthermore, we provide additional evidence for genotype–phenotype correlations, specifically supporting a more severe phenotype associated with DBD variants.