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Chromosome 11q13 deletion syndrome has been previously reported as either otodental syndrome or oculo-oto-dental syndrome. The otodental syndrome is characterized by dental abnormalities and high-frequency sensorineural hearing loss, and by ocular coloboma in some cases. The underlying genetic defect causing otodental syndrome is a hemizygous microdeletion involving the FGF3 gene on chromosome 11q13.3. Recently, a new form of severe deafness, microtia (small ear) and small teeth, without the appearance of eye abnormalities, was also reported. In this report, we describe a 1-yearold girl presenting with ptosis of the left upper eyelid, right auricular deformity, high-arched palate, delayed dentition, simian line on the right hand, microcephaly, and developmental delay. In this patient, we identified a deletion in the chromosome 11q13.2-q13.3 (2.75 Mb) region by using an array-comparative genomic hybridization analysis. The deletion in chromosome 11q13 results in a syndrome characterized by variable clinical manifestations. Some of these manifestations involve craniofacial dysmorphology and require a functional workup for hearing, ophthalmic examinations, and long-term dental care. [ABSTRACT FROM AUTHOR]

Purpose: Sacral cutaneous lesions, such as dimples and hairy patches, may be associated with occult spinal dysraphism and urogenital abnormalities. This study aim to delineate high risk infants who need early screening for intraspinal and urogenital abnormalities by identifying the association between cutaneous lesions and combined abnormalities. Methods: Sacral ultrasonography was performed in 777 infants with sacral cutaneous lesions from January 2010 to July 2014. Of these, 317 infants underwent abdominal ultrasonography for urogenital abnormalities. We reviewed the patient's medical records and radiographic findings retrospectively. Results: Of the 777 infants, abnormal intraspinal findings such as tethered cord or meningocele were reported in 26 (3.4%). Sixteen of these 26 patients with abnormal findings underwent follow-up ultrasonography or MRI; 4 infants were diagnosed with lipomeningomyelocele through MRI, and 1 infant underwent a neurosurgical procedure. Among the 317 infants who underwent abdominal ultrasonography, 78 infants (24.6%) had congenital hydronephrosis and 8 infants (2.5%) had other urogenital abnormalities including duplication of kidney, vesicoureteral reflux, horseshoe kidney, renal cyst, or multicystic dysplastic kidney. Urogenital abnormalities were more common in patients with sacral dimples associated with hair or deviated gluteal folds than in those with simple dimples (OR 3.24 and 8.88; P=0.007 and P=0.001, respectively). Conclusion: Midline sacral cutaneous lesions may be associated with occult spinal dysraphism and urogenital abnormalities. To detect intraspinal lesions, ultrasonography is recommended for infants with sacral cutaneous lesions. Likewise, infants with sacral dimples associated with either hair or deviated gluteal folds, should be evaluated via abdominal ultrasonography to assess for combined urogenital abnormalities. [ABSTRACT FROM AUTHOR]

Purpose: We evaluated the performance of a new multi-degree-of-freedom articulating laparoscopic instrument, ArtiSential, and compared it with that of a straight-shaped instrument and the da Vinci surgical system, in renal surgery using porcine model. Materials and Methods: Nine female Yorkshire pigs were equally divided into three groups. The three groups were compared at each surgical step in terms of objective and subjective parameters. Results: The median operative times for renal pedicle clamping and ureter dissection were significantly shorter in ArtiSential group than robotic group (1.3 min vs. 4.7 min, p=0.002; 8.1 min vs. 11.1 min, p=0.015). The median operative time for bladder repair was significantly longer in ArtiSential group than robotic and straight-shaped groups (17.9 min vs. 5.5 min, p=0.002; 17.9 min vs. 9.3 min, p=0.026). There were no significant differences among groups in terms of blood loss or intraoperative complications. ArtiSential device was less useable for renorrhaphy (p=0.009) and bladder repair (p=0.002) compared to the robotic system. ArtiSential group was less accurate than robotic group in terms of tumor resection, renorrhaphy, and bladder repair. During ureter dissection, bladder cuff excision, and bladder repair, the surgeon experienced greater wrist discomfort but lesser back discomfort in ArtiSential group than robotic group. Conclusions: For most steps, ArtiSential performed as well as robotic and straight-shaped instruments. The development of specialized surgical techniques for ArtiSential will maximize the advantages of these instruments. [ABSTRACT FROM AUTHOR]

PIEZO1 and PIEZO2 are mechanosensitive cation channels that are highly expressed in numerous tissues throughout the body and exhibit diverse, cell-specific functions in multiple organ systems. Within the musculoskeletal system, PIEZO1 functions to maintain muscle and bone mass, sense tendon stretch, and regulate senescence and apoptosis in response to mechanical stimuli within cartilage and the intervertebral disc. PIEZO2 is essential for transducing pain and touch sensations as well as proprioception in the nervous system, which can affect musculoskeletal health. PIEZO1 and PIEZO2 have been shown to act both independently as well as synergistically in different cell types. Conditions that alter PIEZO channel mechanosensitivity, such as inflammation or genetic mutations, can have drastic effects on these functions. For this reason, therapeutic approaches for PIEZO-related disease focus on altering PIEZO1 and/or PIEZO2 activity in a controlled manner, either through inhibition with small molecules, or through dietary control and supplementation to maintain a healthy cell membrane composition. Although many opportunities to better understand PIEZO1 and PIEZO2 remain, the studies summarized in this review highlight how crucial PIEZO channels are to musculoskeletal health and point to promising possible avenues for their modulation as a therapeutic target. [ABSTRACT FROM AUTHOR]

Purpose: Owing to the safety and cost effectiveness of conditioned medium (CM), its therapeutic effects have attracted significant attention from many researchers. To date, numerous studies have been conducted on CM; however, little has been done with regard to erectile dysfunction (ED). In this research, the potential of human mesenchymal stem cell-derived CM (MSC-CM) for the treatment of ED was investigated. Materials and Methods: A high concentration of MSC-CM was prepared through 3D spheroid culturing with bone marrowderived MSCs and cut-off filtering. The composition of CM was analyzed using biochemical assays, and the effect of the preparation process on the quality of CM was investigated. The therapeutic effects of MSC-CM were evaluated through animal studies using a cavernous nerve (CN) injury rat model. Results: 3D spheroid culturing afforded a 278-fold increase in the total protein content of CM, as compared to that from 2D cultures; the protein concentration increased by 19 times on increasing the centrifugation time for cut-off filtering. Biochemical assays indicated that the CM contains various types of angiogenic, neurotrophic, and anti-inflammatory factors. Histological assay results showed that MSC-CM has angio- and neuro-trophic effect in a CN injury rat model in vivo, and these therapeutic effects appear in a dose-dependent manner. Conclusions: The experimental results confirmed the therapeutic effect of MSC-CM in healing damaged cavernosal tissue and restoring erectile function. These results successfully demonstrated that MSC-CM has significant potential for the treatment of ED. [ABSTRACT FROM AUTHOR]

Purpose: We aimed to define the feasibility of the omission of routine insertion of a drain after pure laparoscopic donor nephrectomy (PLDN). We compared the outcomes between those with and without routine drain insertion. Materials and Methods: From July 2014 to October 2018, 178 PLDN were consecutively performed by a single surgeon. Since October 2016, we stopped routine insertion of a drain after PLDN. Thus, the former 80 drained routinely were defined as the Drainage group and the latter 98 were defined as the Non-drainage group. One patient drained non-routinely in the Non-drainage group was excluded from the final analysis. Operative and convalescence parameters and intra- and postoperative complications were compared between the groups. Intra- and postoperative complications within 90 days of surgery were graded using the Satava and Clavien--Dindo classifications, respectively. Results: Baseline characteristics were similar between the groups, except for concomitant surgery, American Society of Anesthesiologists score, and preoperative glomerular filtration rate. All operative and convalescence parameters were similar between the groups, except for postoperative glomerular filtration rate. The rates of overall intra- (22.5% versus 28.9%, p=0.337) and postoperative (62.5% versus 59.8%, p=0.713) complications were similar between the groups. The rates of potentially drain-related postoperative complications were also similar between the groups (36.3% versus 33.0%, p=0.650). Two patients per group suffered from major drain-related complications (2.5% versus 2.1%). Conclusions: PLDN without routine drainage can be performed safely without an increase in postoperative morbidity. [ABSTRACT FROM AUTHOR]