Introduction
Ultrasound is the examination of choice for the diagnosis of hypertrophic pyloric stenosis (HPS). A correct diagnosis is dependent on the technique and measurement accuracy. However, in ...the world literature there is a wide range of values suggested for the diagnosis of this condition. The current minimum measurements used to diagnose HPS seem excessively large, and therefore, we set out to redefine these values.
Methods
A retrospective study was performed on 607 patients (615 scans) being investigated for HPS. The length and transverse diameter of the pyloric canal, and thickness of the pyloric muscle were measured. All results were correlated with clinical and surgical findings.
Results
In this study, the muscle thickness in the normal group was <2.0 mm than in HPS infants having a muscle thickness of 2.0–5.0 mm. All the pyloric canal lengths in the normal group were <5.0 mm than in those with HPS having a length of 10.0–24.0 mm. The transverse diameters ranged from 6.0 to 11.0 mm in the normal group compared with those with HPS having a diameter between 8.0 and 16.0 mm.
Conclusions
The current criteria for sonographic diagnosis of HPS should be redefined. The canal length is the single most important discriminator, with a clear separation between normal and abnormal. The commonly used 16.0‐mm measurement is too long and should be reduced to 10.0 mm (without the risk of false positives). In many cases, the muscle thickness in those with HPS is as low as 2.0 mm, considerably less than the 3.0 mm that is currently used. The transverse diameter is not a useful discriminator for HPS. The use of current values will delay the diagnosis and timely treatment of this condition.
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FZAB, GIS, IJS, KILJ, NLZOH, NUK, OILJ, SAZU, SBCE, SBMB, UL, UM, UPUK
Abstract
Primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders (MCPH–SCKS) include a heterogeneous group of autosomal recessive inherited diseases characterized by primary ...(congenital) microcephaly, the absence of visceral abnormalities, and a variable degree of cognitive impairment, short stature and facial dysmorphism. Recently, biallelic variants in the nuclear pore complex (NPC) component nucleoporin 85 gene (NUP85) were reported to cause steroid-resistant nephrotic syndrome (SRNS). Here, we report biallelic variants in NUP85 in two pedigrees with an MCPH–SCKS phenotype spectrum without SRNS, thereby expanding the phenotypic spectrum of NUP85-linked diseases. Structural analysis predicts the identified NUP85 variants cause conformational changes that could have an effect on NPC architecture or on its interaction with other NUPs. We show that mutant NUP85 is, however, associated with a reduced number of NPCs but unaltered nucleocytoplasmic compartmentalization, abnormal mitotic spindle morphology, and decreased cell viability and proliferation in one patient’s cells. Our results also indicate the link of common cellular mechanisms involved in MCPH–SCKS spectrum disorders and NUP85-associated diseases. In addition to the previous studies, our results broaden the phenotypic spectrum of NUP85-linked human disease and propose a role for NUP85 in nervous system development.
The impact of fronto-orbital advancement (FOA) on frontal sinus development and function is anecdotally variable. The aim of this study was to assess the impact of FOA on development of frontal ...sinuses, and additionally to identify the complications that might arise out of such procedures. This was a retrospective case-control study. Non-syndromic and syndromic craniosynostosis patients (n = 58) who underwent FOA at an early age and also had a skull radiograph or CT scan after the age of 12 were selected. Age matched trauma patients with CT scans done beyond 12 years of age were used as controls. Age at first FOA surgery, total number of procedures and age at imaging was noted. Presence or absence of frontal sinuses was assessed using imaging studies initially. Patients with a formed frontal sinus and a CT scan were further chosen for volumetric studies. Complications related to frontal sinus and secondary surgeries were recorded. One of 27 non-syndromic patients had absent frontal sinuses. Seven of 31 syndromic patients had absent sinuses. Among 20 controls, only 1 patient did not develop frontal sinuses. The mean age at first FOA was 11.81 months and 18.25 months for non-syndromic and syndromic groups, respectively. The average number of procedures before 12 years of age was 1.25 and 1.51 for non-syndromic and syndromic patients, respectively. The mean age at imaging was 17.74, 20.96, and 20.25 years for non-syndromic, syndromic and control groups, respectively. The mean frontal sinus volumes were 13050.36, 15039.02, and 8459.48 mm for non-syndromic, syndromic and control groups, respectively. In conclusion, FOA does not seem to have an impact on rate of pneumatization in the background of similar rates in the non-syndromic and control groups. The low pneumatization rate in syndromic group might be a virtue of the disease itself. There were significant frontal sinus complications that occurred after fronto orbital advancement and this should be borne in mind during the surgical consenting process.
Kinesins are canonical molecular motors but can also function as modulators of intracellular signaling. KIF26A, an unconventional kinesin that lacks motor activity, inhibits ...growth-factor-receptor-bound protein 2 (GRB2)- and focal adhesion kinase (FAK)-dependent signal transduction, but its functions in the brain have not been characterized. We report a patient cohort with biallelic loss-of-function variants in KIF26A, exhibiting a spectrum of congenital brain malformations. In the developing brain, KIF26A is preferentially expressed during early- and mid-gestation in excitatory neurons. Combining mice and human iPSC-derived organoid models, we discovered that loss of KIF26A causes excitatory neuron-specific defects in radial migration, localization, dendritic and axonal growth, and apoptosis, offering a convincing explanation of the disease etiology in patients. Single-cell RNA sequencing in KIF26A knockout organoids revealed transcriptional changes in MAPK, MYC, and E2F pathways. Our findings illustrate the pathogenesis of KIF26A loss-of-function variants and identify the surprising versatility of this non-motor kinesin.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UILJ, UL, UM, UPCLJ, UPUK, ZAGLJ, ZRSKP
Background
Perinatal and childhood postmortem imaging has been accepted as a noninvasive alternative or adjunct to autopsy. However, the variation in funding models from institution to institution is ...a major factor prohibiting uniform provision of this service.
Objective
To describe current funding models employed in European and non-European institutions offering paediatric postmortem imaging services and to discuss the perceived barriers to future postmortem imaging service provision.
Materials and methods
A web-based 16-question survey was distributed to members of the European Society of Paediatric Radiology (ESPR) and ESPR postmortem imaging task force over a 6-month period (March-August 2021). Survey questions related to the radiologic and autopsy services being offered and how each was funded within the respondent’s institute.
Results
Eighteen individual responses were received (13/18, 72.2% from Europe). Only one-third of the institutions (6/18, 33.3%) have fully funded postmortem imaging services, with the remainder receiving partial (6/18, 33.3%) or no funding (5/18, 27.8%). Funding (full or partial) was more commonly available for forensic work (13/18, 72%), particularly where this was nationally provided. Where funding was not provided, the imaging and reporting costs were absorbed by the institute.
Conclusion
Increased access is required for the expansion of postmortem imaging into routine clinical use. This can only be achieved with formal funding on a national level, potentially through health care commissioning and acknowledgement by health care policy makers and pathology services of the value the service provides following the death of a fetus or child. Funding should include the costs involved in training, equipment, reporting and image acquisition.
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EMUNI, FIS, FZAB, GEOZS, GIS, IJS, IMTLJ, KILJ, KISLJ, MFDPS, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, SBMB, SBNM, UKNU, UL, UM, UPUK, VKSCE, VSZLJ, ZAGLJ
ABSTRACTLysosomal storage disorders are a heterogeneous group of genetic diseases characterized by defective function in one of the lysosomal enzymes. In this review paper, we describe ...neuroradiological findings and clinical characteristics of neuronopathic lysosomal disorders with a focus on differential diagnosis. New insights regarding pathogenesis and therapeutic perspectives are also briefly discussed.
Anterior spinal artery syndrome is characterised by acute flaccid quadriparesis or paraparesis, disturbance of pain and temperature sensation, and loss of sphincter control. Fibrocartilaginous ...embolism is a rarely recognised, but important cause of spinal cord infarction. Fibrocartilaginous embolisation usually occurs after minor trauma without major bony lesions, typically with an intervening symptom-free interval and progressive 'stroke-in-evolution' course. There is evidence that the embolus originates from the intervertebral disc, but the mechanism whereby disc fragments enter the spinal vessels is not well understood. We describe the evolution of MRI findings in a case of anterior spinal artery territory infarction thought to be secondary to fibrocartilaginous embolism.
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EMUNI, FIS, FZAB, GEOZS, GIS, IJS, IMTLJ, KILJ, KISLJ, MFDPS, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, SBMB, SBNM, UKNU, UL, UM, UPUK, VKSCE, ZAGLJ
Purpose Treatment of the capillary vascular malformation (port-wine stain) in Sturge-Weber syndrome with the use of a laser is helpful cosmetically. However, concerns have been raised that laser ...obliteration of port-wine stains may result in ocular hypertension. The aim of this study was to review clinical features and management of ocular complications of SWS and assess the effects of dermatological laser treatment on the incidence of glaucoma or ocular hypertension. Methods This retrospective cohort study was conducted in an institutional setting. All patients had involvement of the face. Patients who underwent skin laser to the port-wine vascular malformation were analyzed further. Ocular involvement, glaucoma, and skin laser treatment and the relationship to ocular hypertension/glaucoma were observed. Results Forty-one Sturge-Weber syndrome patients with port-wine vascular malformation were analyzed. Glaucoma was observed in 24 patients (58.5%) at mean age of 2.9 years (range, 0.0−16.5). Of these, 18 (75.0%) were treated with medical therapy, and 10 (41.7%) required trabeculectomy, with 2 of these requiring Seton implant. Of the 41 patients, 28 (68.3%) underwent laser to face/forehead. Mean age of laser commencement was 5 years (range, 0.4−16.5). Thirteen did not undergo laser treatment. Fourteen of the 28 and 10 of the 13 developed ocular hypertension/glaucoma. Conclusions This retrospective review did not find evidence to suggest that laser treatment of port-wine vascular malformations causes glaucoma or that it can worsen a preexisting ocular hypertension or glaucoma. Statistical analysis was inconclusive.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UL, UM, UPCLJ, UPUK
