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discussed with the patients before surgery.
Hemangioblastomas (HGBs) are highly vascular benign tumors, commonly located in the posterior fossa, and 80% of them are sporadic. Patients usually present with features of raised intracranial pressure and cerebellar symptoms. HGB can be classified as either mostly cystic or solids. Although the solid component is highly vascularized, aneurysm or hemorrhagic presentation is rarely described, having catastrophic results.
We identified 32 consecutive patients with posterior fossa HBG who underwent surgery from 2008 through 2020 at our medical center. Tumors were classified as predominantly cystic or solid according to radiological features. Resection was defined as gross total (GTR) or subtotal (STR).
During the study period, 32 posterior fossa HGBs were resected. There were 26 cerebellar lesions and 4 medullar lesions, and in 2 patients, both structures were affected. Predominant cystic tumors were seen in 15 patients and solids in 17. Preoperative digital subtraction angiography (DSA) was performed in 8.
Predominant cystic HGB is usually easily treated as the surgery is straightforward. Those with a solid predominance present a more complex challenge sharing features similar to arteriovenous malformations. Given the important vascular association of solid predominance HGB with these added risk factors, the preoperative assessment should include DSA, as in arteriovenous malformations, and endovascular intervention should be considered before surgery.
Biallelic STUB1 variants are a well-established cause of autosomal-recessive early-onset multisystemic ataxia (SCAR16). Evidence for STUB1 variants causing autosomal-dominant ataxia (SCA48) so far largely relies on segregation data in larger families. Presenting the first de novo occurrence of a heterozygous STUB1 variant, we here present additional qualitative evidence for STUB1-disease as an autosomal-dominant disorder.
Whole exome sequencing on an index patient with sporadic early-onset ataxia, followed by Sanger sequencing in all family members, was used to identify causative variants as well as to rule out alternative genetic hits and intronic STUB1 variants. STUB1 mRNA and protein levels in PBMCs in all family members were analysed using qRT-PCR and Western Blot.
A previously unreported start-lost loss-of-function variant c.3G>A in the start codon of STUB1 was identified in the index case, occurring de novo and without evidence for a second (potentially missed) variant (e.g., intronic or copy nse with multisystemic ataxia provides a qualitatively additional line of evidence for STUB1-disease as an autosomal-dominant disorder, in which the same neurological systems are affected as in its autosomal-recessive counterpart. Moreover, this finding adds support for loss-of-function as a mechanism underlying autosomal-dominant STUB1-disease, thus mirroring its autosomal-recessive counterpart also in terms of the underlying mutational mechanism.
The recent coronavirus pandemic (COVID-19) has affected the delivery of routine cancer care and supportive services. The Macmillan Move More Northern Ireland (MMNI) programme provides access to physical activity and behavioural change support before, during and after cancer treatment. This evaluation details the impact of the pandemic on the MMNI participants and identifies methods to adapt service delivery.
A multiple-choice and short answer online survey was sent to 730 MMNI participants, to investigate the impact of the initial, national COVID-19 lockdown. Specifically, the survey examined physical activity patterns, the physical/emotional/social impact of restrictions and attitudes towards digitally supported exercise. Free text responses were analysed thematically with findings verified within the research team.
377 participants completed the survey (52% response rate). 50% of respondents had breast cancer, with 36 other diagnoses registered (82% were female). Participants reported physical activitquire greater targeting to ensure equality in access to online services.
The COVID-19 pandemic has affected participant physical activity levels. Supervised classes were the most popular (pre-pandemic), with enforced leisure centre closures prompting this reduction. Glycochenodeoxycholic acid order The pandemic has negatively affected the psychosocial wellbeing (mental health) of participants, compounded by the restrictions imposed on the traditional delivery of MMNI. This impact is felt equally across cancer types. Participants with breast cancer are the most engaged in using digital technology to access exercise. Although underrepresented, men require greater targeting to ensure equality in access to online services.Renal fusion anomalies are common congenital anomalies of the urogenital tract and have their genesis in the early embryonic period. They are classified into partial fusion anomalies (e.g., crossed fused ectopia, and horseshoe kidney) and complete fusion anomalies (e.g., fused pelvic kidney). Horseshoe kidney is the most common renal fusion anomaly and is characterized by the presence of two distinct functioning kidneys on either side of the vertebral column, with fusion occurring at the inferior poles in majority of the cases. Crossed fused ectopia is characterized by the presence of an ectopic kidney that crosses the midline and fuses with the orthotopic contralateral kidney, whereas fused pelvic (pancake) kidney is a complete fusion anomaly characterized by extensive medial fusion of both kidneys in the pelvis. Fusion anomalies are often associated with abnormalities of renal rotation, migration, and vascular supply, which predispose the kidneys to a number of complications and create difficulty during retroperitoneal surgeries and interventions. They are also associated with other congenital abnormalities of the urogenital tract, gastrointestinal tract, cardiovascular system, and skeletal system. Hence, a thorough understanding of the etiopathogenesis and radiological features of fusion anomalies is important for directing patient management. This review summarizes the embryological basis, clinical presentation and imaging approach to renal fusion anomalies, followed by detailed anatomical and radiological description of the morphological types, and the complications associated with these anomalies.
