Confirming the direct link between neural circuit activity and animal behavior has been a principal aim of neuroscience. The genetically encoded calcium indicator (GECI), which binds to calcium ions and emits fluorescence visualizing intracellular calcium concentration, enables detection of in vivo neuronal firing activity. Various GECIs have been developed and can be chosen for diverse purposes. These GECI-based signals can be acquired by several tools including two-photon microscopy and microendoscopy for precise or wide imaging at cellular to synaptic levels. In addition, the images from GECI signals can be analyzed with open source codes including constrained non-negative matrix factorization for endoscopy data (CNMF_E) and miniscope 1-photon-based calcium imaging signal extraction pipeline (MIN1PIPE), and considering parameters of the imaged brain regions (e.g., diameter or shape of soma or the resolution of recorded images), the real-time activity of each cell can be acquired and linked with animal behaviors. As a result, GECI signal analysis can be a powerful tool for revealing the functions of neuronal circuits related to specific behaviors.
Animals ; Behavior, Animal ; Brain ; Calcium Channels ; Calcium ; Carisoprodol ; Endoscopy ; Fires ; Fluorescence ; Ions ; Microscopy ; Neuronal Calcium-Sensor Proteins ; Neurons ; Neurosciences ; Statistics as Topic

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

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.