Notes

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Following the publication of the Management of Myelomeningocele study (MOMS), fetal repair of myelomeningocele (MMC) has become increasingly prevalent worldwide. However, limited case presentations exist illustrating the potential mechanical and embryological effects of fetal repair. We present a unique case report of a complex embryological cervicomedullary junction (CMJ) malformation and cerebellar hypoplasia following fetal repair of MMC.

A 1-day-old female was referred to the paediatric neurosurgical team after having successful surgical intrauterine closure of MMC abroad at 25 weeks gestation. The patient was born by emergency caesarean section at 33 weeks gestation and had a ventricular-peritoneal shunt inserted at 25 days old due to resulting hydrocephalus. Neonatal MRI scans revealed a complex number of malformations that included a split cord located at the CMJ, hypoplasia of the cerebellum and vermis, and a Chiari type II malformation.

It is possible that the clefting of the upper cervical spialformation following antenatal surgery in the literature. This should be further explored as more cases and trials become available.
Renal functional reserve (RFR), defined as the difference between stress and resting glomerular filtration rate (GFR), may constitute a diagnostic tool to identify patients at higher risk of developing acute kidney injury or chronic kidney disease. Blunted RFR has been demonstrated in early stages of hypertension and has been attributed to impaired vascular reactivity due to an overactive sympathetic nervous system (SNS).

The purpose of this study was to investigate whether RFR correlates with other phenotypes expressing overactivity of the SNS in patients with essential hypertension and preserved renal function.

Thirty-six patients with untreated essential hypertension and a GFR >60 mL/min/1.73 m2 were enrolled. The following parameters were measured RFR, 24-h ambulatory blood pressure (BP) profile, a treadmill stress test, and an echocardiographic examination. Urine and venous samples were obtained at specific time points for the determination of clinical parameters, and both resting and stress GFRrved GFR, reduced RFR is related to nondipping BP phenotype as well as to attenuated exercise HR response. Overactivity of the SNS may be a common pathway. Since loss of RFR may represent a risk factor for acute or chronic kidney injury, hypertensive patients with blunted RFR might need a more careful renal follow-up.The cerebellum has a highly conserved internal circuitry, but varies greatly in size and morphology within and across species. Despite this variation, the underlying volumetric changes among the layers of the cerebellar cortex or their association with Purkinje cell numbers and sizes is poorly understood. Here, we examine intraspecific scaling relationships and variation in the quantitative neuroanatomy of the cerebellum in Japanese quail (Coturnix japonica) selected for high or low reproductive investment. As predicted by the circuitry of the cerebellum, the volumes of the constituent layers of the cerebellar cortex were strongly and positively correlated with one another and with total cerebellar volume. The number of Purkinje cells also significantly and positively co-varied with total cerebellar volume and the molecular layer, but not the granule cell layer or white matter volumes. Purkinje cell size and cerebellar foliation did not significantly covary with any cerebellar measures, but differed significantly between the selection lines. Males and females from the high-investment lines had smaller Purkinje cells than males and females from the low-investment lines and males from the high-investment lines had less folded cerebella than quail from the low-investment lines. These results suggest that within species, the layers of the cerebellum increase in a coordinated fashion, but Purkinje cell size and cerebellar foliation do not increase proportionally with overall cerebellum size. In contrast, selection for differential reproductive investment affects Purkinje cell size and cerebellar foliation, but not other quantitative measures of cerebellar anatomy.
Topographical disorientation is one of the early symptoms of Alzheimer's disease (AD). The nature of this symptom, however, remains unclear.

The aim of the study was to investigate egocentric and allocentric spatial cognition in patients with amnestic mild cognitive impairment (aMCI) and early AD.

The participants consisted of normal healthy volunteers (n = 23), patients with aMCI (n = 26), and patients with early AD (n = 22). We administered the card placing test (CPT), in which a subject was required to recreate an array of 3 cards, each of which was randomly placed on 8 grids around the individual, before (part A) and after (part B) the individual's rotation. With this design, the CPT can reveal an individual's ability to represent spatial information either egocentrically (CPT-A) or allocentrically (CPT-B). A qualitative analysis of errors in performing the CPT was also conducted.

Compared with the controls, the aMCI patients showed significantly poorer CPT-B performance, while there was no significant difference in CPT-A performance between these 2 groups. In contrast, the AD patients demonstrated significantly poorer performance on both the CPT-A and CPT-B than the controls and aMCI patients. There was no significant difference in the profile of errors on the CPT-B between the controls and aMCI patients, whereas there was a notable difference in those on the CPT-A between the controls and AD patients and the aMCI and AD patients.

Allocentric spatial cognition is selectively impaired in aMCI patients, while an egocentric spatial cognition is additionally impaired in AD patients.
Allocentric spatial cognition is selectively impaired in aMCI patients, while an egocentric spatial cognition is additionally impaired in AD patients.Acquired factor V deficiency (AFVD) is a rare autoimmune bleeding disorder. Unlike acquired hemophilia, bypass therapies with recombinant activated factor VII and activated prothrombin complex concentrates are ineffective for severe bleeding due to AFVD. Although several treatment strategies have been attempted, a standard of care for severe hemorrhage induced by AFVD is lacking. Herein, we report a case of AFVD with severe bleeding that responded to plasma exchange (PE) combined with immunosuppression. FICZ mouse We also reviewed previously reported AFVD cases with severe hemorrhage and suggest that PE may be an effective initial treatment for AFVD-induced severe hemorrhage.
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