Upper extremity anomalies are the second most common type of congenital malformations. Approximately 1% to 3% of newborns are born with congenital anomalies, and among them, roughly 10% have upper extremity anomalies. Congenital hand anomalies are often isolated phenomena but may also coexist with other congenital anomalies or syndromes. These anomalies cause not only aesthetic concerns, but also significant functional deficits and psychological issues for children and their families. Surgeons should conduct a thorough examination to make an accurate diagnosis and provide appropriate treatment or refer the patient to a specialized clinic if necessary. Operative procedures should aim to restore both function and aesthetics. This article reviews the embryology of the hand, the classification of congenital hand anomalies, and the clinical features and treatment of common major congenital hand anomalies.

Paraffin injection has been widely used to improve body contouring or to augment various body parts, although it has now been abandoned owing to serious complications. Paraffin injection may lead to complications after a long latency period, ranging from several years to several decades. Here, we present the rare case of a 77-year-old woman who suffered from recurrent wound problems after a bilateral paraffin injection into her hands 40 years ago. Initially, conservative debridement was carried out due to the patient’s reluctance to undergo extensive surgery and cost concerns. However, this resulted in recurrent wound dehiscence and infection. After serial debridement procedures, a skin graft was performed on her right hand. The patient complained of a depressed contour and numbness at the skin graft site, and tightness and discomfort of her right hand during flexion of the metacarpophalangeal joint. Three years later, the patient presented with a highly similar wound on her left hand. Thorough excision of the soft tissue infiltrated by paraffin was performed, followed by reconstruction using a sensate free anterolateral thigh flap. The patient responded well postoperatively without complications, displaying a fair range of motion without discomfort, sensory restoration of the flap, and satisfaction with the contour of the dorsum. This case report highlights the importance of complete excision of soft tissues infiltrated by paraffin for definitive treatment. Among the various reconstruction options, a sensate free flap is a good choice for achieving favorable functional and esthetic outcomes in hand reconstruction after radical excision of a paraffinoma.

Purpose: The GenesWell™ breast cancer test (BCT) is a recently developed multigene assay that predicts the risk of distant recurrence in patients with hormone receptor-positive (HR+) and human epidermal growth factor-2 negative (HER2−) early breast cancer (BC). The ability of this assay to predict the response to neoadjuvant chemotherapy (NACT) has not been established to date. Methods: Biopsy specimens from HR+/HER2− BC patients with axillary lymph node (LN) metastasis who underwent NACT were analyzed using the BCT score. The modified BCT score was developed and patients classified into high-and low-response groups. A total of 88 patients were available for the BCT score among the 108 eligible patients. The median followup duration was 35.9 (7.8–128.5) months. Results: Among them, 61 (65.1%) had cN1 and 53 (60.2%) had cT1 or cT2 disease. The BCT score was low in 25 (28.4%) patients and high in 63 (71.6%). Among the 50 patients with pathologic complete response or partial response, 41 (82.0%) were in the high BCT score group and 9 (18.0%) were in the low BCT score group. Among the 38 patients with stable or progressive disease, 22 (57.9%) were in the high BCT score group and 16 (42.1%) were in the low BCT score group (p = 0.025). Ki-67 before NACT was a significant factor for predicting tumor response (p = 0.006; 3.81 [1.50–10.16]). The BCT score showed a significant response to NACT (p = 0.016; 4.18 [1.34–14.28]). Distant metastasis-free survival was significantly different between the high- and low-response groups (p = 0.004). Conclusion We demonstrated that the BCT score predicts NACT responsiveness in HR+/ HER2− BC with LN metastasis and might help determine whether NACT should be performed. Further studies are required to validate these results.

BACKGROUND AND OBJECTIVES: The clinical significance and need for the treatment of primary snoring and mild obstructive sleep apnea have been recently questioned. In this study, we analyzed therapeutic outcome and the methods of treatment of such diseases.SUBJECTS AND METHOD: A retrospective review was conducted using the medical records of patients diagnosed with primary snoring or mild obstructive sleep apnea at a single institution from 2013 to 2015 through polysomnography or WATCHPAT. RESULTS: Of the 18 patients (37%) with primary snoring, 13 patients (72.2%) underwent surgery, four patients (22.2%) were treated with surgery and mandibular advancement device, and one patient (5.6%) underwent automatic positive airway pressure therapy. Of the 78 patients (61%) with mild obstructive sleep apnea, 35 patients (44.8%) had surgery, 24 patients (30.8%) were treated with mandibular advancement device, 13 patients (16.7%) were treated with surgery and mandibular advancement device and 6 patients (7.7%) received automatic positive airway pressure therapy. For primary snoring, while Epworth Sleepiness Scale and Pittsburg Sleep Quality Index did not improve, the snoring visual analog scale decreased significantly. In patients with mild obstructive sleep apnea, Apnea-Hypopnea Index, snoring decibel, Epworth Sleepiness Scale, and Pittsburg Sleep Quality Index were significantly decreased after treatment and the lowest oxygen saturation was significantly increased after treatment. CONCLUSION For primary snoring, the direction of treatment should be determined in accordance with the presence of associated diseases related to sleep disturbance breathing. For mild obstructive sleep apnea, active treatment may be helpful.

Obstructive azoospermia caused by acute epididymitis is usually permanent, and microsurgical vasoepididymostomy is the only reconstructive treatment option. There have been no reports of delayed recovery of sperm count after over 1 year in a patient with obstructive azoospermia related to history of acute epididymitis. We present a young male patient who had azoospermia and a history of acute epididymitis who experienced delayed recovery, with complete restoration of sperm production and the ability to conceive naturally.
Azoospermia ; Epididymitis ; Humans ; Infertility ; Male ; Sperm Count ; Spermatozoa

Silent information regulator 2 (Sirtuin2 / SIRT2) is a NAD⁺-dependent deacetylase that regulates the cellular oxidative stress response. It modulates transcriptional silencing and protein stability through deacetylation of target proteins including histones. Previous studies have shown that SIRT2 plays a role in mood disorders and hippocampus-dependent cognitive function, but the underlying neurobiological mechanism is poorly understood. Here, we report that chronic stress suppresses SIRT2 expression in the hippocampus. Molecular and biochemical analyses indicate that the stress-induced decrease in the SIRT2 expression downregulates synaptic plasticity-related genes in the hippocampus through the increase of euchromatic histone-lysine N-methyltransferase 2 (Ehmt2) (also known as G9a). shRNA-mediated knockdown of SIRT2 in the dentate gyrus alters the expression of synaptic plasticity-related genes in a way similar to those induced by chronic stress, and produces depression-like behaviors. Our results indicate that SIRT2 plays an important role in the response to stress, thereby modulating depression-like behaviors.
Cognition ; Dentate Gyrus ; Depression ; Down-Regulation ; Hippocampus ; Histone-Lysine N-Methyltransferase ; Histones ; Mood Disorders ; Neuronal Plasticity ; Oxidative Stress ; Protein Stability ; Up-Regulation

BACKGROUND AND OBJECTIVES: The clinical significance and need for the treatment of primary snoring and mild obstructive sleep apnea have been recently questioned. In this study, we analyzed therapeutic outcome and the methods of treatment of such diseases. SUBJECTS AND METHOD: A retrospective review was conducted using the medical records of patients diagnosed with primary snoring or mild obstructive sleep apnea at a single institution from 2013 to 2015 through polysomnography or WATCHPAT. RESULTS: Of the 18 patients (37%) with primary snoring, 13 patients (72.2%) underwent surgery, four patients (22.2%) were treated with surgery and mandibular advancement device, and one patient (5.6%) underwent automatic positive airway pressure therapy. Of the 78 patients (61%) with mild obstructive sleep apnea, 35 patients (44.8%) had surgery, 24 patients (30.8%) were treated with mandibular advancement device, 13 patients (16.7%) were treated with surgery and mandibular advancement device and 6 patients (7.7%) received automatic positive airway pressure therapy. For primary snoring, while Epworth Sleepiness Scale and Pittsburg Sleep Quality Index did not improve, the snoring visual analog scale decreased significantly. In patients with mild obstructive sleep apnea, Apnea-Hypopnea Index, snoring decibel, Epworth Sleepiness Scale, and Pittsburg Sleep Quality Index were significantly decreased after treatment and the lowest oxygen saturation was significantly increased after treatment. CONCLUSION: For primary snoring, the direction of treatment should be determined in accordance with the presence of associated diseases related to sleep disturbance breathing. For mild obstructive sleep apnea, active treatment may be helpful.
Humans ; Mandibular Advancement ; Medical Records ; Methods ; Oxygen ; Polysomnography ; Respiration ; Retrospective Studies ; Sleep Apnea, Obstructive ; Snoring ; Visual Analog Scale

Hyperprolactinemia due to a pituitary adenoma is a rare cause of erectile dysfunction (ED). The prevalence of clinically apparent prolactinomas is reported to be from 6–10 to 50 per 100,000. A few reports have been published of prolactinoma presenting with ED. Here, we report a rare case of a young man who presented with ED as a chief complaint and who was diagnosed with a huge prolactinoma, and we discuss a related fertility issue.
Erectile Dysfunction ; Fertility ; Hyperprolactinemia ; Male ; Pituitary Neoplasms ; Prevalence ; Prolactinoma

OBJECTIVE: We investigated the clinical characteristics of men with testosterone replacement therapy (TRT)-induced hypogonadism and its effect on assisted reproductive technology (ART) in infertile couples.METHODS: This study examined the records of 20 consecutive male patients diagnosed with azoospermia or severe oligozoospermia (<5×10⁶/mL) who visited a single infertility center from January 2008 to July 2018. All patients were treated at a primary clinic for erectile dysfunction or androgen deficiency symptoms combined with low serum testosterone. All men received a phosphodiesterase 5 inhibitor and TRT with testosterone undecanoate (Nebido®) or testosterone enanthate (Jenasteron®). Patients older than 50 years or with a chronic medical disease such as diabetes were excluded.RESULTS: The mean age of patients was 37 years and the mean duration of infertility was 16.3±11.6 months. At the initial presentation, eight patients had azoospermia, nine had cryptozoospermia, and three had severe oligozoospermia. Serum follicle-stimulating hormone levels were below 1.0 mIU/mL in most patients. Three ongoing ART programs with female factor infertility were cancelled due to male spermatogenic dysfunction; two of these men had normal semen parameters in the previous cycle. After withholding TRT, serum hormone levels and sperm concentrations returned to normal range after a median duration of 8 months.CONCLUSION: TRT with high-dose testosterone can cause spermatogenic dysfunction due to suppression of the hypothalamic-pituitary-testicular axis, with adverse effects on infertility treatment programs. TRT is therefore contraindicated for infertile couples attempting to conceive, and the patient's desire for fertility must be considered before initiation of TRT in a hypogonadal man.
Azoospermia ; Cyclic Nucleotide Phosphodiesterases, Type 5 ; Erectile Dysfunction ; Family Characteristics ; Female ; Fertility ; Follicle Stimulating Hormone ; Humans ; Hypogonadism ; Infertility ; Infertility, Male ; Male ; Oligospermia ; Reference Values ; Reproductive Techniques, Assisted ; Semen ; Spermatozoa ; Testosterone

Both cervical vestibular evoked myogenic potential (cVEMP) and ocular VEMP (oVEMP) are irreplaceable tools in the current vestibular science, but they have many drawbacks. For example, the test-retest reliability of the asymmetry ratio is inadequate for both tests. The American Academy of Neurology noted that there is insufficient evidence to determine whether cVEMP and oVEMP can accurately identify vestibular function specifically related to the saccule/utricle. One of the most important factors underlying the variability of cVEMP seems to be the control of, and compensation for, baseline muscle contraction power. Reasons for variability in oVEMP include a poor signal to noise ratio, the angle of superior gaze, effective and controlled presentation of stimuli, intracranial pressure, and electrode location. Many of these shortcomings could be improved by further development of recording methods and devices. This article examines the reasons for the insufficient reliability of VEMP and proposes avenues for improvement of VEMP recording systems.
Compensation and Redress ; Electrodes ; Intracranial Pressure ; Muscle Contraction ; Neurology ; Reproducibility of Results ; Signal-To-Noise Ratio ; Vertigo