Diagnosing amyotrophic lateral sclerosis (ALS) is challenging and requires distinguishing it from conditions like distal hereditary motor neuropathy type 5 (dHMN-V). A 21-year-old female initially diagnosed with ALS showed progressive upper limb weakness extending to the lower limbs. Trio exome sequencing revealed a de novo pathogenic Berardinelli-Seip congenital lipodystrophy 2 variant (c.263A>G, p.Asn88Ser), confirming dHMN-V. Minipolymyoclonus of small amplitudes in bilateral wrists and ankles was an atypical presentation. This case underscores the importance of considering dHMN-V as a differential diagnosis in ALS-like distal upper extremity weakness.

Diagnosing amyotrophic lateral sclerosis (ALS) is challenging and requires distinguishing it from conditions like distal hereditary motor neuropathy type 5 (dHMN-V). A 21-year-old female initially diagnosed with ALS showed progressive upper limb weakness extending to the lower limbs. Trio exome sequencing revealed a de novo pathogenic Berardinelli-Seip congenital lipodystrophy 2 variant (c.263A>G, p.Asn88Ser), confirming dHMN-V. Minipolymyoclonus of small amplitudes in bilateral wrists and ankles was an atypical presentation. This case underscores the importance of considering dHMN-V as a differential diagnosis in ALS-like distal upper extremity weakness.

Diagnosing amyotrophic lateral sclerosis (ALS) is challenging and requires distinguishing it from conditions like distal hereditary motor neuropathy type 5 (dHMN-V). A 21-year-old female initially diagnosed with ALS showed progressive upper limb weakness extending to the lower limbs. Trio exome sequencing revealed a de novo pathogenic Berardinelli-Seip congenital lipodystrophy 2 variant (c.263A>G, p.Asn88Ser), confirming dHMN-V. Minipolymyoclonus of small amplitudes in bilateral wrists and ankles was an atypical presentation. This case underscores the importance of considering dHMN-V as a differential diagnosis in ALS-like distal upper extremity weakness.

This study summarizes the recent cutting-edge approaches for dentin regeneration that still do not offer adequate solutions. Tertiary dentin is formed when odontoblasts are directly affected by various stimuli. Recent preclinical studies have reported that stimulation of the Wnt/β-catenin signaling pathway could facilitate the formation of reparative dentin and thereby aid in the structural and functional development of the tertiary dentin. A range of signaling pathways, including the Wnt/β-catenin pathway, is activated when dental tissues are damaged and the pulp is exposed. The application of small molecules for dentin regeneration has been suggested as a drug repositioning approach. This study reviews the role of Wnt signaling in tooth formation, particularly dentin formation and dentin regeneration. In addition, the application of the drug repositioning strategy to facilitate the development of new drugs for dentin regeneration has been discussed in this study.

Background: The aim of this study was to investigate the clinical presentations, patterns of soft-tissue injuries, and outcomes of treatment of elbow dislocations in patients with preexisting cubitus varus. Methods: Four cases of elbow dislocation in patients with preexisting cubitus varus, which were treated at 3 residency training hospitals, were retrospectively reviewed. Soft-tissue injury patterns were investigated using magnetic resonance imaging (MRI).Clinical outcomes were assessed at an average of 50.8 months (range, 34–82 months) after treatment using the Mayo Elbow Performance Score (MEPS) and the Quick Disabilities of the Arm, Shoulder and Hand (QuickDASH) score. Results: The mean patient age was 49.5 years (range, 33–57 years). All patients had a posteromedial elbow dislocation, which was an indirect injury caused by a fall onto an outstretched hand. One patient had failed closed reduction; 3 others had redislocation or gross instability after closed reduction. Significant tears of the lateral collateral ligament complex and common extensor group were shown in MRI. All patients had surgical treatment including lateral complex repair only (n = 2), repair of both sides’ complexes (n = 1), and corrective osteotomy with lateral complex repair (n = 1). At the final follow-up, the mean MEPS was 92.5 ± 8.7 and the mean QuickDASH score was 4.5 ± 6.4. Conclusions Elbow dislocation in patients with preexisting cubitus varus may present as posteromedial dislocation with acute instability. Surgical treatment of this injury led to acceptable clinical outcomes.

This study summarizes the recent cutting-edge approaches for dentin regeneration that still do not offer adequate solutions. Tertiary dentin is formed when odontoblasts are directly affected by various stimuli. Recent preclinical studies have reported that stimulation of the Wnt/β-catenin signaling pathway could facilitate the formation of reparative dentin and thereby aid in the structural and functional development of the tertiary dentin. A range of signaling pathways, including the Wnt/β-catenin pathway, is activated when dental tissues are damaged and the pulp is exposed. The application of small molecules for dentin regeneration has been suggested as a drug repositioning approach. This study reviews the role of Wnt signaling in tooth formation, particularly dentin formation and dentin regeneration. In addition, the application of the drug repositioning strategy to facilitate the development of new drugs for dentin regeneration has been discussed in this study.

Generally, lateral plating is used for a comminuted fracture of the distal femur. However, in some cases, it has been shown that using a medial plate is necessary to achieve better outcome. Nevertheless, there are no available anatomical plates that fit either the distal medial femoral condyle or fracture fixation, except for the relatively short plate developed for distal femoral osteotomy. We found that locking compression plate-proximal lateral tibia (LCP-PLT) fits anatomically well for the contour of the ipsilateral medial femoral condyle. Moreover, LCP-PLT has less risk of breaking the thread holes since it rarely needs to be bent. We report a plastic bone model study and two cases of distal femoral fractures fixed with medial plating using LCP-PLT.
Femoral Fractures* ; Femur ; Fracture Fixation ; Fractures, Comminuted ; Osteotomy ; Plastics ; Tibia*

Although studies on malrotation of the humerus possibly leading to dysfunction of the shoulder have been reported, studies on its causes are inadequate. The authors encountered a patient complaining of malrotation accompanied by dysfunction of the shoulder which occurred during treatment of a distal humeral fracture. The patient recovered the shoulder function by only correcting malrotation of the humerus without direct treatment on the shoulder, and we report it herein with a review of the literature.
Humans ; Humeral Fractures ; Humerus* ; Shoulder*

Clavicle medial end fracture is rare, and it has not been studied extensively. Although there is debate regarding its treatment methods, because of the complications of conservative treatment, surgical treatment has been considered more than conservative treatment. This study describes a surgical method using double-plate fixation for treatment of clavicle medial end fractures in which plates were used on each anterior and superior border according to the anatomical structure of the clavicle. In addition, we report operative results of three patients treated by double-plate fixation.
Clavicle* ; Humans

BACKGROUND: The aim of this study was to investigate the demographic and clinical characteristics of patients with primary frozen shoulder in a Korean population. METHODS: A total of 1,373 patients whose shoulders were diagnosed with primary frozen shoulder across 11 resident-training hospitals were reviewed retrospectively. Various demographic characteristics and clinical characteristics according to gender and presence of diabetes were evaluated. RESULTS: The average age of patients was 55.4 years. Gender proportion was 58.3% females and 41.7% males. The frozen shoulder involved the non-dominant arm in 60.7% of patients and the bilateral arms in 17.6% of patients. The average duration of symptoms was 8.9 months, and 51.3% of patients had experienced nocturnal pain. Comorbidities associated with frozen shoulder in our sample of patients included diabetes (18.7%), cardiovascular diseases (17.7%), thyroid diseases (5.4%), and cerebrovascular diseases (3.6%). The diabetic group was correlated with the following demographic and clinical characteristics: old age, involvement of the dominant arm, nocturnal pain, long duration of symptoms, and no history of trauma. Further, we found that, in males, having a frozen shoulder was significantly correlated with a history of trauma; in females, having a frozen shoulder was significantly correlated with having thyroid diseases. CONCLUSIONS: These demographic data of primary frozen shoulder in the Korean population were consistent with those of previously reported epidemiologic studies. Primary frozen shoulder with diabetes was correlated with old age, bilateral involvement, long duration of symptoms, and nocturnal pain.
Arm ; Bursitis* ; Cardiovascular Diseases ; Comorbidity ; Diabetes Mellitus ; Epidemiologic Studies ; Female ; Humans ; Male ; Retrospective Studies* ; Risk Factors ; Shoulder ; Thyroid Diseases