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.

Teeth wear with loss of posterior support often leads to symptoms such as irregular occlusal plane and excessive wear of anterior teeth. In such environment, establishing proper posterior support and harmonious anterior guidance and occlusal plane is recommended. In this case, the patient had excessively worn dentition with loss of posterior support, while denying surgical treatment due to her(his) history of osteoporosis, ibandronate injection, and risk of medication-related osteonecrosis of the jaw (MRONJ). To recover the vertical space needed for prosthetic restoration, full mouth rehabilitation with vertical dimension increase of remaining teeth was decided. Missing teeth in the posterior area were restored with mandibular removable partial denture. The treatment plan was determined through careful diagnosis, and every step of procedures including tooth preparation, provisional phase with the increased vertical dimension, and definitive prosthetic phase were carried out accordingly. Once the treatment was completed, the patient was satisfied functionally and esthetically. Periodic examination of oral hygiene, occlusal stability was conducted.

Background: In postaxial polysyndactyly of the foot, the choice of which toe to excise is controversial. It is often treated by resection of the fifth toe to save the lateral neurovascular bundles of the sixth toe. However, the sixth toe is often short and laterally deviated, which may require wedge osteotomy, potentially shortening the phalanx and compromising circulation. This study outlines an individualized method to spare the length and axis of the fifth toe in polysyndactyly with a short and deviated sixth toe. Methods: We retrospectively analyzed 38 patients who underwent surgery between 2006 and 2019. The fifth toe was spared in 18 cases, and the sixth toe in 20 cases. The ratios of the forefoot width, angle difference, and toe length were compared between the affected and unaffected sides postoperatively. Complications and subjective judgments on cosmetic results were recorded and compared. Results: No significant between-group differences were observed for sex, age at surgery, or the follow-up period. The forefoot width ratio did not significantly differ between the groups. However, the angle difference and toe length ratios showed significantly better results in the fifth toe-spared group than in the sixth toe-spared group (P<0.05 and P<0.01, respectively). There were no cases of impaired circulation, and subjective evaluations revealed satisfactory results in the fifth toe-spared group. Conclusions In cases with short and deviated sixth toes, sparing the fifth toe is an effective method of cosmetic treatment. The surgical results were satisfactory, with an improved appearance and no residual deformities.

Objective: The cyclic nucleotide-gated channel (Cng) regulates synaptic efficacy in brain neurons by modulating Ca2＋ levels in response to changes in cyclic nucleotide concentrations. This study investigated whether the expression of Cng channel, cyclic nucleotide-gated channel subunit beta 1 (Cngb1) exhibited any relationship with the pathophysiology of schizophrenia in an animal model and whether genetic polymorphisms of the human gene were associated with the progression of schizophrenia in a Korean population. Methods: We investigated whether Cngb1 expression was related to psychiatric disorders in a mouse model of schizophrenia induced by maternal immune activation. A case-control study was conducted of 275 schizophrenia patients and 410 controls with single-nucleotide polymorphisms (SNPs) in the 5′-near region of CNGB1. Results: Cngb1 expression was decreased in the prefrontal cortex in the mouse model. Furthermore, the genotype frequency of a SNP (rs3756314) of CNGB1 was associated with the risk of schizophrenia. Conclusion Our results suggest that CNGB1 might be associated with schizophrenia susceptibility and maternal immune activation. Consequently, it is hypothesized that CNGB1 may be involved in the pathophysiology of schizophrenia.

Background: Pilomatrixoma is a benign tumor that originates from the hair follicle matrix. It usually presents as a hard, slow growing, solitary mass that can be easily misdiagnosed as other skin masses. The aim of this study was to clinically analyze a case series of pilomatrixoma in pediatric patients from Korea. Methods: A total of 165 pediatric patients from 2011 to 2018 with a histological diagnosis of pilomatrixoma were included. A retrospective review was performed using the electronic medical records, including patient demographics, number and location of the mass, clinical and imaging presentation, and postoperative outcomes. Results: There were 61 male and 104 female patients with 152 solitary and 13 multiple pilomatrixomas. Among solitary pilomatrixomas, the lesion commonly occurred in the head and neck (84.2%), followed by upper limbs (11.2%), lower limbs (3.3%), and trunk (1.3%). The pilomatrixoma lesion presented as the following types based on our clinical classification: mass (56.02%), pigmentation (25.31%), mixed (12.65%), ulceration (4.82%), and keloid-like (1.2%). Ultrasonography showed a high positive predictive value (95.56%). There were no specific complications observed except for two cases of recurrence. Conclusion Pilomatrixoma has various clinical feature presentations and commonly occurs in the head and neck. Ultrasonography is a helpful diagnostic tool. Surgical removal of the lesion is the main treatment method with a low recurrence rate.

Exposure to lead during pregnancy is a risk factor for the development of psychiatric disorders in the offspring. In this study, we investigated whether exposure to low levels of lead acetate (0.2%) in drinking water during pregnancy and lactation causes behavioral impairment and affects the expression of proteins associated with neurodevelopment. Lead exposure altered several parameters in rat offspring compared with those unexposed in open-field, social interaction, and pre-pulse inhibition tests. These parameters were restored to normal levels after clozapine treatment. Western blot and immunohistochemical analyses of the hippocampus revealed that several neurodevelopmental proteins were downregulated in lead-exposed rats. The expression was normalized after clozapine treatment (5 mg/kg/day, postnatal day 35–56). These findings demonstrate that downregulation of several proteins in lead-exposed rats affected subsequent behavioral changes. Our results suggest that lead exposure in early life may induce psychiatric disorders and treatment with antipsychotics such as clozapine may reduce their incidence.
Animals ; Antipsychotic Agents ; Behavior Rating Scale ; Blotting, Western ; Clozapine ; Down-Regulation ; Drinking Water ; Female ; Hippocampus ; Incidence ; Interpersonal Relations ; Lactation ; Lead Poisoning ; Models, Animal ; Neurodevelopmental Disorders ; Pregnancy ; Rats ; Risk Factors

OBJECTIVE: Exposing a pregnant female to stress during the critical period of embryonic fetal brain development increases the risk of psychiatric disorders in the offspring. The objective of this study was to investigate the effect of antidepressant tianeptine on prenatally stressed (PNS) rats. METHODS: In this study, a repeated variable stress paradigm was applied to pregnant rats during the last week of gestation. To investigate the effects of antidepressant tianeptine on PNS rats, behavioral and protein expression analyses were performed. Forced swim test, open field test, and social interaction test were performed to determine changes in PNS rats compared to non-stressed offspring. Haloperidol was used as a positive control as an antipsychotic drug based on previous studies. RESULTS: Behavioral changes were restored after treatment with tianeptine or haloperidol. Western blot and immunohistochemical analyses of the prefrontal cortex revealed downregulation of several neurodevelopmental proteins in PNS rats. After treatment with tianeptine or haloperidol, their expression levels were increased. CONCLUSION: Downregulation of several proteins in PNS rats might have caused subsequent behavioral changes in PNS rats. After tianeptine or haloperidol treatment, behavioral changes in PNS rats were restored. Therefore, tianeptine might decrease incidence of prenatal stress related-psychiatric disorders such as depression and schizophrenia.
Adult* ; Animals ; Behavior Rating Scale ; Blotting, Western ; Brain ; Critical Period (Psychology) ; Depression ; Down-Regulation ; Female ; Haloperidol ; Humans ; Incidence ; Interpersonal Relations ; Models, Animal ; Prefrontal Cortex ; Pregnancy ; Rats* ; Schizophrenia

BACKGROUND AND OBJECTIVES: Laryngopharyngeal reflux disease (LPRD) is relatively common disease. N-acetyl cysteine (NAC) has both mucolytic and antioxidant effect, also may be beneficial in inflammatory airway diseases. The purpose of this study was to evaluate the efficacy and safety of inhaled NAC therapy in LPRD. MATERIALS AND METHODS: We retrospectively reviewed the medical records of 525 LPRD patients at 12 medical centers. Finally 401 patients subjected to inhaled NAC therapy for 2 months were enrolled in the study. We analyzed the change of Reflux Symptom Index (RSI) and Reflux Finding Score (RFS) after use of NAC for 4 weeks and 8 weeks in addition to the patient's compliance of the treatment. RESULTS: The RSI score significantly decreased from 19.87±6.34 to 12.78±6.93 after 4 weeks and to 10.65±7.47 after 8 weeks. The RFS score also significantly decreased from 9.29±3.4 to 7.17±3.41 after 4 weeks and to 6.1±3.73 after 8 weeks (p<0.05). During the treatment periods, 42 patients (10.4%) reported to have 80 episodes of discomfort. Throat discomfort (33%) and nausea (28%) were most common complaints, but the duration of discomfort was usually less than 4 weeks. CONCLUSION: Inhaled NAC treatment is highly effective for the reduction of both subjective and objective findings in LPRD patients. This study will provide the evidence of new treatment option for patients with LPRD. However, further studies will be needs to assess the real effect of inhaled NAC therapy as a standard treatment regimen of LPRD.
Antioxidants ; Compliance ; Cysteine ; Cystine ; Humans ; Inhalation ; Laryngopharyngeal Reflux ; Medical Records ; Nausea ; Pharynx ; Retrospective Studies

PURPOSE: Non-preaxial polydactyly of the hand refers to axial polysyndactyly involving the 2nd, 3rd, or 4th finger and postaxial polydactyly involving the 5th finger. It has a much lower incidence and a higher genetic penetrance than preaxial type. METHODS: Medical records of the patients who had operation for their polydactyly between July 1997 and July 2015 were retrospectively reviewed. The clinical data of the patients were investigated regarding demographics, clinical findings of the involved digits, foot involvement, and genetic penetrance. Through postoperative follow-up based on physical and radiologic examinations, we assessed functional and aesthetic outcomes, postoperative complications, and reoperation rate. RESULTS: Twenty-four patients (17 males and 7 females) underwent surgery for non-preaxial polydactyly of the hand. There were 15 postaxial type polydactyly, and 9 axial type polysyndactyly. Thirteen patients had bilateral involvement (54.2%), while 5 patients (20.8%) were right-sided and 6 patients (25%) were left-sided. In the axial type, 4th finger was the most frequently involved in 8 patients, followed by the 3rd finger in 1 patient. Thirteen patients (54.2%) had concurrent congenital foot anomalies. One patient (4.2%) had a family history of congenital hand anomaly. Patients with axial type polysyndactyly had poorer postoperative outcome than those with postaxial type, regarding reoperation rate. CONCLUSION: Non-preaxial polydactyly is a very rare congenital hand anomaly and the surgical outcome is not always promising especially in the axial type. Therefore, it is necessary to provide a sufficient preoperative counseling and to perform a meticulous surgery.
Counseling ; Demography ; Fingers ; Follow-Up Studies ; Foot ; Hand Deformities ; Hand* ; Humans ; Incidence ; Male ; Medical Records ; Penetrance ; Polydactyly* ; Postoperative Complications ; Reoperation ; Retrospective Studies ; Syndactyly*