Description of a novel RyR2 mutation in a juvenile patient with symptomatic catecholaminergic polymorphic ventricular tachycardia in sleep and during exercise: a case report

Catecholaminergic polymorphic ventricular tachycardia is an inherited disease presenting with arrhythmic events during physical exercise or emotional stress. If untreated, catecholaminergic polymorphic ventric...

https://ift.tt/2C1IGFD

Association of benign paroxysmal positional vertigo with vitamin D deficiency: a systematic review and meta-analysis

Abstract

Background and objective

Benign paroxysmal positional vertigo (BPPV) is an idiopathic recurrent inner ear illness that is caused most often by an imbalance in the metabolism of calcium carbonate crystals (otoconia) inside the semicircular canals, in which the otoconia begin to circulate freely after being dislodged from the basic structure. The underlying etiology of this imbalance has not yet been well established; however, a few recent articles have revealed that vitamin D level abnormality in these patients might play a role. Therefore, we conducted the current systematic review analysis to explore potential associations of vitamin D level with the occurrence as well as the recurrence of BPPV disease.

Methods

A comprehensive literature search was conducted using different databases to retrieve all of the articles that have evaluated possible associations, irrespective of the study design. Then, we reported different vitamin D3 levels from BPPV groups and control groups to estimate the standardized mean difference (SMD) between the BPPV and control groups. We also calculated the effect size of each study under the random effects statistical model.

Results

Of the 703 studies that we identified, only 37 studies were found to be potential for our analysis, and of these, only seven met our predetermined criteria. Two meta-analyses were conducted with respect to the occurrence and the recurrence of BPPV. When the BPPV cases were compared to the controls (free of BPPV disease), there was an insignificant reduction in vitamin D level among the diseased groups (SMD = − 2.20; 95% CI − 6.66 to 2.26). In contrast, when the recurrent BPPV groups were compared with the non-recurrent BPPV groups, the statistical analysis showed significantly lower level of vitamin D among the recurrence BPPV groups (SMD = − 4.47; 95% CI − 7.55 to − 1.29).

Conclusion

Although a negative vitamin D imbalance has been reported among some BPPV patients, this review analysis failed to establish a relationship between the occurrence of BPPV and low vitamin D level. However, low vitamin D level was significantly evident among patients with recurrent episodes of BPPV.

https://ift.tt/2Nvk5ej

Investigation of ultra-low insertion speeds in an inelastic artificial cochlear model using custom-made cochlear implant electrodes

Abstract

Purpose

Latest research on cochlear implantations focuses on hearing preservation during insertion of the implant's electrode array by reducing insertion trauma. One parameter which may influence trauma is insertion speed. The objective of this study was to extend the range of examined insertion speeds to include ultra-low velocities, being lower than manually feasible, and investigate whether these reduce insertion forces.

Methods

24 custom-made cochlear implant test samples were fabricated and inserted into an artificial scala tympani model using 12 different insertion speeds while measuring the resulting insertion forces. Three commercially available slim straight electrode carriers were inserted using the same setup to analyze whether the results are comparable.

Results

Insertions of the test samples using high insertion speeds (2.0/2.8 mm/s) showed significantly higher insertion forces than insertions done with low insertion speeds (0.2 mm/s) or ultra-low insertion speeds (< 0.1 mm/s). The insertions with commercial slim straight electrode arrays showed significantly reduced insertion forces when using a low insertion speed as well.

Conclusions

Slow insertions showed significantly reduced insertion forces. Insertion speeds which are lower than manually feasible showed even lower insertion forces.

https://ift.tt/2OOrNVy

Urachal carcinoma: from gross specimen to morphologic, immunohistochemical, and molecular analysis

Abstract

Urachal carcinoma (UrC) is an exceedingly rare neoplasm that develops from the urachus, an embryologic remnant of the urogenital sinus and allantois. The most commonly encountered histologic subtype is adenocarcinoma. The aim of this study is to characterize a series of UrC by morphology, immunohistochemistry, and molecular analysis. We retrospectively investigated seven cases of UrCs and assessed patient symptoms, imaging, histologic features, immunohistochemical profile, molecular characteristics, pathologic stages, and type of treatment. Immunostaining for CK7, CK20, Muc-2, CDX2, GATA3, β-catenin, and CK34βE12 was carried out on each neoplasm and on seven non-neoplastic urachal remnants as the control group. Additionally, a mutational analysis was performed using the QIAact Actionable Insights Tumor Panel Kit, which analyzes KRAS, NRAS, KIT, BRAF, PDGFRA, ALK, EGFR, ERBB2, PIK3CA, ERBB3, ESR1, and RAF1. Our cohort comprised five females and two males with a mean age of 64 years. UrCs consisted of two mucinous cystadenocarcinomas and five invasive, non-cystic adenocarcinomas. Carcinoma antigen expression profile was positive for CK20 and negative for CK34βE12 and GATA3 in all cases. Five of seven cases stained positively for Muc-2 and CDX2. On the contrary, non-neoplastic urachal remnants were immunoreactive for CK34βE12, CK7, and GATA3. Mutational analysis gave a positive result in four out of seven (57.1%) cases. All four positive tumors showed RAS mutation and one an additional mutation in PIK3CA. Urachal tumors exhibit peculiar morphologic, immunohistochemical, and molecular features. Due to the advanced stage at presentation, individualized treatment should be undertaken.

https://ift.tt/2QCXRZH

Microsurgical Anatomy of Stapedius Muscle: Anatomy Revisited, Redefined with Potential Impact in Surgeries

Abstract

Stapedius muscle even though being the smallest skeletal muscle in human body, it has a major role in otology. As many of the distinguished books in otology missed to explain much about stapedius muscle, and also considering the need for the anatomy based visit to this small muscle we felt it was important to have a exercise like this. In the dissection hall of our institution we dissected 32 cadaveric temporal bones and delineated stapedius muscle as a part of PG teaching programme to have a clear idea of the anatomy of stapedius muscle, its origin, attachment, extension, size (all dimensions). Length of the stapedius muscle varied between 9 and 11 mm. Stapedial tendon measured about 2 mm. The muscle had a classical sickle shape with tendon looking like the handle of the sickle. It has a bulky belly with a maximum breadth of 2–3 mm. It was found to be medial to midportion of vertical limb of facial nerve. All of our temporal bones measured size varied from 9 to 11 mm in length excluding stapedial tendon. Stapedial tendon measured almost 2 mm. Muscle is classical sickle shaped with tendon acting like the handle of the sickle. It has a bulky tummy which forms the maximum breadth of 1–3 mm. Why to have a clear idea about the anatomy of stapedius muscle is that, unless the anatomy is clear there is chance of confusing the muscle with that of facial nerve while doing facial nerve grafting and also while drilling for facial nerve decompression in experienced hands may get confused and decompress the muscle. Stapedius muscle said to be the smallest muscle in the body, but its not as small as its been described. Detailed awareness of the anatomy of stapedius muscle is needed so as to avoid confusion while facial nerve grafting and while drilling.

https://ift.tt/2Cxz1I2

Microsurgical Anatomy of Stapedius Muscle: Anatomy Revisited, Redefined with Potential Impact in Surgeries

Abstract

Stapedius muscle even though being the smallest skeletal muscle in human body, it has a major role in otology. As many of the distinguished books in otology missed to explain much about stapedius muscle, and also considering the need for the anatomy based visit to this small muscle we felt it was important to have a exercise like this. In the dissection hall of our institution we dissected 32 cadaveric temporal bones and delineated stapedius muscle as a part of PG teaching programme to have a clear idea of the anatomy of stapedius muscle, its origin, attachment, extension, size (all dimensions). Length of the stapedius muscle varied between 9 and 11 mm. Stapedial tendon measured about 2 mm. The muscle had a classical sickle shape with tendon looking like the handle of the sickle. It has a bulky belly with a maximum breadth of 2–3 mm. It was found to be medial to midportion of vertical limb of facial nerve. All of our temporal bones measured size varied from 9 to 11 mm in length excluding stapedial tendon. Stapedial tendon measured almost 2 mm. Muscle is classical sickle shaped with tendon acting like the handle of the sickle. It has a bulky tummy which forms the maximum breadth of 1–3 mm. Why to have a clear idea about the anatomy of stapedius muscle is that, unless the anatomy is clear there is chance of confusing the muscle with that of facial nerve while doing facial nerve grafting and also while drilling for facial nerve decompression in experienced hands may get confused and decompress the muscle. Stapedius muscle said to be the smallest muscle in the body, but its not as small as its been described. Detailed awareness of the anatomy of stapedius muscle is needed so as to avoid confusion while facial nerve grafting and while drilling.

https://ift.tt/2Cxz1I2

Gender-Related Facial Surgical Goals

Facial plast Surg 2018; 34: 474-479
DOI: 10.1055/s-0038-1670648

In the last several years, there has been an increasing demand for surgical facial feminization or masculinization to treat the gender dysphoric patient. However, while aesthetic ideals for facial rejuvenation are well described and taught, there is a relative paucity of literature on how to achieve a feminine or masculine morphology. It is thus becoming increasingly important for facial plastic surgeons to understand patient goals regarding facial feminization or masculinization, and to have a systematic approach for analyzing the female and male face.
[...]

Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Article in Thieme eJournals:
Table of contents  |  Abstract  |  Full text

https://ift.tt/2PnUnKD