An important challenge in Parkinson’s disease (PD) based neuroscience and neuroimaging is mapping the neuronal connectivity of the basal ganglia to understand how the disease affects brain circuitry. However, a majority of diffusion tractography studies have shown difficulties in revealing connections between distant anatomic brain regions and visualizing basal ganglia connectome. In this current study, we investigated the differences in basal ganglia connectivity between 6-OHDA induced ex-vivo PD mouse model and normal ex-vivo mouse model by using diffusion tensor imaging tractography from diffusion-weighted images obtained with a high resolution 9.4 T MR scanner. Connectivity pattern of the basal ganglia were compared between five 6-OHDA and five control ex-vivo mouse brains using results of probabilistic tractography generated with PROBTRACKX. When compared with control mouse, 6-OHDA mouse showed significant enhancements to motor territory-related subthalamopallidal and pallido-subthalamic connectivity. Multi-fiber tractography combined with diffusion MRI data has the potential to help recognize the abnormalities found in connectivity of psychiatric and neurologic disease models.

Purpose: Despite enzyme replacement therapy (ERT) and/or allogeneic hematopoietic stem cell transplantation, individuals with mucopolysaccharidosis (MPS) I or II often experience significant growth deficiencies. This study aimed to assess the safety and efficacy of recombinant human growth hormone (hGH) treatment in children diagnosed with MPS I or II. Materials and Methods: A total of nine pediatric patients—four with MPS I and five with MPS II—underwent treatment with ERT and hGH at Samsung Medical Center. Results: The mean hGH dose administered was 0.26±0.03 mg/kg/week. In the MPS I group, three patients showed an increase in height Z-score from –4.09±0.83 to –3.68±0.43 after 1 year of hGH treatment, and to –3.10±0.72 by the end of the hGH regimen. In the MPS II group, while the height Z-score of four patients decreased according to standard growth charts, it improved from 1.61±1.79 to 2.71±1.68 based on the disease-specific growth chart through hGH treatment. Two patients discontinued hGH treatment due to lack of efficacy after 22 and 6 months each of treatment, respectively. No new-onset neurological symptoms or necessity for prosthetic or orthopedic surgery were reported during hGH treatment. Conclusion This study provides insights into the impact of hGH on MPS patients, demonstrating its potential to reverse growth deceleration in some cases. Further research is needed to explore the long-term effects of hGH on changes in body composition, muscle strength, and bone health in this population.

PURPOSE: Although the prognosis is generally good in patients with intermediate-risk neuroblastoma, no consensus has been reached on the ideal treatment regimen. This study analyzed treatment outcomes and toxicities in patients younger than 18 months with stage 4 MYCN nonamplified neuroblastoma. METHODS: We retrospectively analyzed 20 patients younger than 18 months newly diagnosed with stage 4 MYCN nonamplified neuroblastoma between January 2009 and December 2015. Patients received 9 cycles of chemotherapy and surgery, with or without local radiotherapy, followed by 12 cycles of differentiation therapy with 13-cis-retinoic acid. Chemotherapy consisted of alternating cycles of cisplatin, etoposide, doxorubicin, and cyclophosphamide (CEDC) and ifosfamide, carboplatin, and etoposide (ICE) regimens. RESULTS: The most common primary tumor site was the abdomen (85%), and the most common metastatic sites were the lymph nodes (65%), followed by the bones (60%), liver (55%), skin (45%), and bone marrow (25%). At the end of induction therapy, 14 patients (70%) achieved complete response, with 1 achieving very good partial response, 4 achieving partial response, and 1 showing mixed response. Nine patients (45%) received local radiotherapy. At a median follow-up of 47 months (range, 17–91 months), none of these patients experienced relapse, progression, or secondary malignancy, or died. Three years after chemotherapy completion, none of the patients had experienced grade ≥3 late adverse effects. CONCLUSION: Patients younger than 18 months with stage 4 MYCN nonamplified neuroblastoma showed excellent outcomes, without significant late adverse effects, when treated with alternating cycles of CEDC and ICE, followed by surgery and differentiation therapy.
Abdomen ; Bone Marrow ; Carboplatin ; Child ; Cisplatin ; Consensus ; Cyclophosphamide ; Doxorubicin ; Drug Therapy ; Etoposide ; Follow-Up Studies ; Humans ; Ice ; Ifosfamide ; Infant ; Isotretinoin ; Liver ; Lymph Nodes ; Neoplasm Metastasis ; Neuroblastoma ; Prognosis ; Radiotherapy ; Recurrence ; Retrospective Studies ; Skin

Acute limb ischemia (ALI) due to an embolism is associated with high mortality rate and poor prognosis, and early diagnosis with prompt revascularization is required to reduce the risk of limb amputation or even death. The etiologies of ALI are diverse, and it includes an embolism from the heart and thrombotic occlusion of the atherosclerotic native vessels, stents, or grafts. An uncommon cause of ALI is acute arterial thromboembolism, and atrial fibrillation (AF) is the single most important risk factors for systemic thromboembolism. It is important to correctly identify the source of ALI for secondary prevention, as it depends on the underlying cause. Percutaneous transluminal angioplasty (PTA) has been proven to be a safe and effective treatment for focal atherosclerotic and thrombotic occlusive diseases of the aorta and its major extremity branches. Herein, we report on a 77-year-old female patient with acute upper limb ischemia, treated by PTA using a catheter-guided thrombectomy. He was newly diagnosed with paroxysmal AF (PAF) while evaluation the cause of his acute arterial thromboembolism. We recommend that cardiologists always consider PAF as a possible diagnosis even in patients without any history of AF under ALI because it is possible to develop thromboembolism in clinical practice.
Aged ; Amputation ; Angioplasty ; Aorta ; Atrial Fibrillation* ; Diagnosis ; Early Diagnosis ; Embolism ; Extremities ; Female ; Heart ; Humans ; Ischemia* ; Mortality ; Peripheral Arterial Disease ; Prognosis ; Risk Factors ; Secondary Prevention ; Stents ; Thrombectomy ; Thromboembolism ; Transplants ; Upper Extremity*

Acute limb ischemia (ALI) due to an embolism is associated with high mortality rate and poor prognosis, and early diagnosis with prompt revascularization is required to reduce the risk of limb amputation or even death. The etiologies of ALI are diverse, and it includes an embolism from the heart and thrombotic occlusion of the atherosclerotic native vessels, stents, or grafts. An uncommon cause of ALI is acute arterial thromboembolism, and atrial fibrillation (AF) is the single most important risk factors for systemic thromboembolism. It is important to correctly identify the source of ALI for secondary prevention, as it depends on the underlying cause. Percutaneous transluminal angioplasty (PTA) has been proven to be a safe and effective treatment for focal atherosclerotic and thrombotic occlusive diseases of the aorta and its major extremity branches. Herein, we report on a 77-year-old female patient with acute upper limb ischemia, treated by PTA using a catheter-guided thrombectomy. He was newly diagnosed with paroxysmal AF (PAF) while evaluation the cause of his acute arterial thromboembolism. We recommend that cardiologists always consider PAF as a possible diagnosis even in patients without any history of AF under ALI because it is possible to develop thromboembolism in clinical practice.
Aged ; Amputation ; Angioplasty ; Aorta ; Atrial Fibrillation ; Diagnosis ; Early Diagnosis ; Embolism ; Extremities ; Female ; Heart ; Humans ; Ischemia ; Mortality ; Peripheral Arterial Disease ; Prognosis ; Risk Factors ; Secondary Prevention ; Stents ; Thrombectomy ; Thromboembolism ; Transplants ; Upper Extremity

Mirizzi syndrome is a rare complication, resulting in bile duct obstruction and jaundice that usually arise from impacted gallstone in the cystic duct or neck of the gallbladder. It is vitally important to confirm underlying cystic duct anomaly in Mirizzi syndrome since it can produce surgical difficulty and higher complications. Generally, Mirizzi syndrome is treated surgically while endoscopic treatment is limited. Herein, we present Mirizzi syndrome with low lying cystic duct and remnant cyst duct calculi treated successfully by biliary stent and administration of choleretic agent, following by balloon dilatation on cystic duct and balloon extraction of the stone.
Calculi ; Cholangiopancreatography, Endoscopic Retrograde ; Cholangitis ; Cholestasis ; Cystic Duct* ; Deception* ; Dilatation ; Gallbladder ; Gallstones ; Humans ; Jaundice ; Mirizzi Syndrome* ; Neck ; Stents

Mirizzi syndrome is a rare complication, resulting in bile duct obstruction and jaundice that usually arise from impacted gallstone in the cystic duct or neck of the gallbladder. It is vitally important to confirm underlying cystic duct anomaly in Mirizzi syndrome since it can produce surgical difficulty and higher complications. Generally, Mirizzi syndrome is treated surgically while endoscopic treatment is limited. Herein, we present Mirizzi syndrome with low lying cystic duct and remnant cyst duct calculi treated successfully by biliary stent and administration of choleretic agent, following by balloon dilatation on cystic duct and balloon extraction of the stone.
Calculi ; Cholangiopancreatography, Endoscopic Retrograde ; Cholangitis ; Cholestasis ; Cystic Duct* ; Deception* ; Dilatation ; Gallbladder ; Gallstones ; Humans ; Jaundice ; Mirizzi Syndrome* ; Neck ; Stents

Coffin-Lowry syndrome (CLS, OMIM # 303600) is a rare X-linked disorder caused by mutations in RPS6KA3. CLS is characterized by facial dysmorphism, digit abnormalities, developmental delays, growth retardation, and progressive skeletal changes in male patients. Females with CLS are variably affected, complicating diagnosis. Here, we describe the clinical and molecular findings in a female Korean child with CLS and review the associated literature. A 5-year-old girl presented with short stature and developmental delays. She had a coarse facial appearance characterized by a prominent forehead, hypertelorism, thick lips, and hypodontia. She also had puffy tapering fingers and pectus excavatum. We performed exome sequencing and identified a novel, likely pathogenic, heterozygous variant, c.326_338delinsCTCGAGAC (p.Val109Alafs*10), in RPS6KA3 (NM_004586.2). This is the first Korean female genetically diagnosed with CLS. In contrast to the delayed bone age reported in previous studies, our patient showed advanced bone age and central precocious puberty. CLS should be considered as a differential diagnosis of short stature, tapering fingers, and developmental delay. We suggest that molecular techniques can be a useful tool for diagnosis of rare disorders such as CLS because such conditions are not simple, and the associated spectrum of phenotypes can vary.