Genetic variation in the leptin receptor (LEPR) gene has been implicated in metabolic regulation, while the gut microbiome and circulating metabolites are increasingly recognized as mediators of host metabolic phenotype. However, the systems-level interactions among LEPR genotypes, gut microbial composition, and serum metabolomic profiles remain poorly understood, particularly in healthy individuals. We conducted a cross-sectional study involving 37 healthy Korean adults. Three LEPR single nucleotide polymorphisms (rs1137101, rs1173100, rs790419) were genotyped. Untargeted metabolomics of fasting serum was performed using gas chromatography–time-of-flight mass spectrometry, and gut microbiome composition was profiled by 16S rRNA gene sequencing. Statistical analysis included principal component analysis, Mann–Whitney U tests, and Spearman correlations. Network analysis integrating microbiome, metabolomic, and clinical phenotype data was conducted using Cytoscape. A total of 54 serum metabolites were identified. LEPR genotypes, particularly rs1137101 and rs1173100, were associated with differences in metabolites such as pimelic acid, malonic acid, and 2,4-dihydroxybutyric acid. Firmicutes negatively correlated with saturated fatty acids and organic acids, whereas Actinobacteria positively correlated with cholesterol and amino acids. Network analysis revealed indole-3-acetate and cholesterol as central nodes linking microbial taxa with body mass index and leptin levels. However, no direct molecular pathways connecting leptin or its receptor were identified. LEPR genetic variation is associated with distinct serum metabolomic patterns and microbiome–host networks in healthy adults. Although no direct leptin signaling links were found, network-level associations suggest indirect genetic influences on metabolic states through microbiome–metabolome interactions.These findings advance understanding of personalized metabolic regulation and gene–microbiome interplay.

Gastric leaks after laparoscopic sleeve gastrectomy are serious complications with mortality rates of up to 10%. Conventional self-expanding metal stents exhibit high migration rates (up to 58%), limiting their efficacy. Large, fully covered megastents that reduce migration rates are poorly tolerated and associated with traumatic ulcers and discomfort. We present two cases of successful endoscopic management of persistent gastric leaks following laparoscopic sleeve gastrectomy using long, fully covered Gastro-Seal stents (240 mm) after failed surgical re-exploration. These patients achieved complete fistula closure without stent migration or traumatic ulceration within 26 days and 45 days, respectively. The extended length and round-ended design of the Gastro-Seal stent effectively addressed the key limitations of both conventional and mega-stents. Long, fully covered gastroseal stents may thus be an effective treatment option for managing persistent post-bariatric leaks.

BACKGROUND AND PURPOSE: Charcot-Marie-Tooth disease (CMT) type 1A (CMT1A) is the demyelinating form of CMT that is significantly associated with PMP22 duplication. Some studies have found that the disease-related disabilities of these patients are correlated with their compound muscle action potentials (CMAPs), while others have suggested that they are related to the nerve conduction velocities. In the present study, we investigated the correlations between the disease-related disabilities and the electrophysiological values in a large cohort of Korean CMT1A patients. METHODS: We analyzed 167 CMT1A patients of Korean origin with PMP22 duplication using clinical and electrophysiological assessments, including the CMT neuropathy score and the functional disability scale. RESULTS: Clinical motor disabilities were significantly correlated with the CMAPs but not the motor nerve conduction velocities (MNCVs). Moreover, the observed sensory impairments matched the corresponding reductions in the sensory nerve action potentials (SNAPs) but not with slowing of the sensory nerve conduction velocities (SNCVs). In addition, CMAPs were strongly correlated with the disease duration but not with the age at onset. The terminal latency index did not differ between CMT1A patients and healthy controls. CONCLUSIONS: In CMT1A patients, disease-related disabilities such as muscle wasting and sensory impairment were strongly correlated with CMAPs and SNAPs but not with the MNCVs or SNCVs. Therefore, we suggest that the clinical disabilities of CMT patients are determined by the extent of axonal dysfunction.
Action Potentials ; Axons ; Charcot-Marie-Tooth Disease ; Cohort Studies ; Humans ; Muscles ; Neural Conduction

The publisher wishes to apologize for incorrectly displaying the author (Seok Beom Gwon) name. We correct his name from Seok Beom Gwon to Seok Beom Kwon.

BACKGROUND: Mitofusin 2 (MFN2) is a membrane protein and is an essential component of mitochondrial fusion machinery. Mitochondrial fusion is essential for various biological functions in mammalian cells. Thus mutations in MFN2 are the underlying cause of Charcot-Marie-Tooth neuropathy type 2A (CMT2A). However, there has been no reports investigating the MFN2 genes in Korean CMT patients. Therefore, we investigated to find the clinical and genetic characteristics in Korean patients with the MFN2 gene mutation. METHODS: We examined the mutations of the MFN2 gene in 137 Korean CMT families. According to criteria from the European CMT consortium, CMT2 was 45 families. Mutations were confirmed by both strands sequencing. Nerve conduction studies were carried out in CMT patients having each mutation. RESULTS: Eight pathogenic mutations were found in 10 families. Six mutations (Leu92Pro, Gly127Asp, His165Arg, Ser263Pro, Arg364Trp, Met376Thr) were determined to be novel, and those were not detected in the 100 healthy controls. A de novo missense mutation was found in three CMT families (30%). The frequency of the MFN2 mutation was 22.2%, which was higher than those found in the Cx32 mutation. In CMT2A, the frequencies with early age at onset (<10 years) and flat feet were 46.2%. CONCLUSIONS: We found MFN2 mutations in patients with sporadic or dominantly inherited CMT. In the majority of cases with CMT type 2, the axonal neuropathy, may be due to MFN2 mutations.
Axons ; Charcot-Marie-Tooth Disease ; Flatfoot ; Humans ; Membrane Proteins ; Mitochondrial Dynamics ; Mutation, Missense ; Neural Conduction

A 58-years-old man came to the hospital because of progressive intellectual deterioration, gait disturbance and postural instability for 6 months. Neuropsychological tests showed severe impairment of memory and executive functions, and dural arteriovenous fistula of the superior sagittal sinus (dAVF of SSS) was found on brain MRI and angiography. The symptoms were markedly improved after selective transvascular embolization treatments. Even though the dAVF of SSS is a rare cause of dementia, we suggest that it can be one of the treatable causes of dementia.
Angiography ; Brain ; Central Nervous System Vascular Malformations* ; Dementia* ; Executive Function ; Gait ; Magnetic Resonance Imaging ; Memory ; Neuropsychological Tests ; Superior Sagittal Sinus*

Leigh syndrome (LS) is a genetically and clinically heterogeneous disorder caused by metabolic defects affecting lactate/pyruvate metabolism. The consequence of the metabolic defects are decreased amounts of APT and basic cell energy productions of the nervous system. In LS, several mutations have been reported in both the nuclear and the mitochondrial genome. Here, we report a 26-year-old woman clinically diagnosed with LS having characteristic brain MR and MRS abnormalities but without known definite pathogenetic mitochondrial DNA mutations.
Adult ; Brain ; DNA, Mitochondrial ; Female ; Genome, Mitochondrial ; Humans ; Leigh Disease* ; Magnetic Resonance Imaging* ; Metabolism ; Mitochondrial Diseases ; Nervous System

Pneumoperitoneum, Pneumomediastinum, subcutaneous emphysema and a pneumothorax are some of the mechanical complications of bronchial asthma. The incidence of pneumoperitoneum during an attack of acute asthma is rare. The pathogenesis is free gas track from the overdistended alveoli, through the bronchovascular sheaths to the mediastinum. If the high pressure is maintained, air can escape retroperitoneally into the abdomen and burst into the peritoneal cavity. A 43-year-old woman was admitted due to a severe asthma attack. She was required endotracheal intubation and AMBU(air mask bag unit) ventilation. Immediately after these procedures, pneumoperiotneum, pneumomediastinum, and subcutaneous emphysema daveloped. She was treated with mechanical ventilation and medical therapy. The pneumoperitoneum was resolved after 27 days. Here, we report this case with the review of the relevant literature.
Abdomen ; Adult ; Asthma* ; Female ; Humans ; Incidence ; Intubation, Intratracheal ; Masks ; Mediastinal Emphysema* ; Mediastinum ; Peritoneal Cavity ; Pneumoperitoneum* ; Pneumothorax ; Respiration, Artificial ; Subcutaneous Emphysema ; United Nations ; Ventilation*

Uterine arteriovenous malformation(AVM) is a rare cause of massive uterine bleeding. Although uterine AVM is a rare cause of menorrhagia or postmenopausal bleeding, it is important to consider in the assessment of a patient with abnormal uterine bleeding because accurate diagnosis can allow appropriate treatment to be planned and avoid hysterectomy in women who wish to retain their reproductive capacity. Curettage may precipitate life-threatening hemorrhage and is therefore contraindicated when uterine AVM is suspected. These lesinons may be congenital or acquired. Acquired lesions are believed to follow trauma or may arise after choriocarcinoma or other gynecologic malignancies. Until rescently, this condition was difficult to diagnose and management almost always required hysterectomy. Doppler flow ultrasound and pelvic angiography are important for diagnosis and assessment. Transcatheter embolization has replaced hysterectomy as the treatment of choice in woman who wish to retain their fertility. We have experienced one case of uterine AVM complicated by partial hydatidiform mole, which is presented with a brief review of the literature.
Angiography ; Arteriovenous Malformations* ; Choriocarcinoma ; Curettage ; Diagnosis ; Female ; Fertility ; Hemorrhage ; Humans ; Hydatidiform Mole* ; Hysterectomy ; Menorrhagia ; Pregnancy ; Ultrasonography ; Uterine Hemorrhage ; Uterus*

OBJECTIVE: To evaluate safety and efficacy of systemic or local methotrexate(MTX) injection to patients with unruptured ectopic pregnancy METHODS: From October 1995 to October 1999, 35 unruptured ectopic pregnancies were eligible for the conservative management. 25 tubal pregnancies, 4 cervical pregnancies, 4 pregnancies of previous cesarean section scar, and 2 cornual pregnancies diagnosed by ultrasonography & serumbeta-hCG were evaluated. Patients were treated with one of following three protocols : (1) A single-dose of 50mg/m2 of intramuscullar(IM) MTX(7 cases) (2) Two to four doses of 1.0mg/kg of IM MTX with citrovorum rescue(20 cases) (3) Transvaginal ultrasonogram-guided intra-amniotic instillation of 50mg methotrexate (8 cases) The mean age of these patients was 30.8 yrs (range 24-42) and gestational age at diagnosis ranged from 22-75 days (mean 47). Initial level of serumbeta-hCG ranged from 166.4-55363.8 mIU/mL (mean 9069.2). Patients were monitored with serumbeta-hCG titers three times per week ,and then weekly until the serumbeta-hCG level was less then 10 mIU/mL. RESULT: 31 of 35 patients (88.6%) were successfully treated and remaining 4 patients failed conservative therapy and so required surgery. Mean duration of resolution was 38.5 days (range 11-105). Side effect rate was 45.7% but severity of symptoms were so mild that no treatment was needed in most cases. CONCLUSION: Nonsurgical conservative management of MTX appears to be effective and safe treatment modality for some selected unruptured ectopic pregnancy. But further comparative studies and long-term follow-up are needed to evaluate reproductive outcome and reduce side effects of MTX.
Cesarean Section ; Cicatrix ; Diagnosis ; Female ; Follow-Up Studies ; Gestational Age ; Humans ; Methotrexate* ; Pregnancy ; Pregnancy, Ectopic* ; Pregnancy, Tubal ; Ultrasonography