Enteric anendocrinosis attributable to a novel Neurogenin-3 variant

Congenital diarrhea and enteropathies (CODEs) are a group of monogenic disorders that often present with severe diarrhea in the first weeks of life. Enteric anendocrinosis (EA), an extremely rare cause of CODE, is characterized by a marked reduction of intestinal enteroendocrine cells (EC). EA is associated with recessively inherited variants in Neurogenin-3 (NEUROG3) gene. Here we investigate a case of a male infant who presented with mysterious severe malabsorptive diarrhea since birth. Thorough clinical assessments and laboratory tests were successful to exclude the majority of differential diagnosis categories. However, the patient's diagnosis was not established until the genetic test using whole-exome sequencing (WES) was performed. We identified a novel homozygous missense disease-causing variant (DCV) in NEUROG3 (c.413C>G, p.Thr138Arg). Moreover, molecular dynamic simulation analysis showed that (p.Thr138Arg) led to a global change of the NEUROG3 orientation affecting its DNA binding capacity. To the best of our knowledge, this is the first time to apply WES to reach a differential diagnosis of patients with CODEs. Our study not only expands our knowledge about NEUROG3 variants and their clinical consequences but also proves that WES is a very effective tool for the diagnosis of CODEs. This might be of value in early diagnosis of diseases and prenatal CODEs detection.     

A rare case of a periorbital respiratory (choristomatous) cyst

Respiratory cysts are benign lesions lined by normal respiratory epithelium. There are few reported cases localized to the orbit, while those of the eyelid are exceedingly rare. Respiratory cysts usually arise either from a non‐hereditary congenital malformation, where they are distinguished as choristomatous, or from trauma. Here, we report a case of a 53‐year‐old man who presented with a large right lower eyelid cyst that was histopathologically diagnosed as a respiratory cyst.     

Symptomatic perineural cyst after spontaneous subarachnoid hemorrhage: A case report

Rationale:Tarlov or perineurial cysts are nerve root lesions often found in the sacral region. Most perineural cysts (PCs) remain asymptomatic throughout a patient''s life. While their pathogenesis is still unclear, trauma resulting in hemorrhaging into subarachnoid space has been put forward as a possible cause of these cysts. Recently, we worked with a patient experiencing symptomatic PCs after spontaneous subarachnoid hemorrhage.Patient concerns:A 45-year-old man had a coil embolization procedure performed after being diagnosed with a subarachnoid hemorrhage from a ruptured anterior communicating artery. His symptoms were relieved after the procedure, but 7 days later he reported worsening pain in the left perineal area. The pain was intermittent at its onset and exacerbated by sitting, walking, and coughing.Diagnoses:Two weeks after the embolization procedure, a lumbar spine MRI revealed 2 PCs at the S1 and S2 level affecting the left S2 root with high signal intensity in T2 and T1 images, suggestive of bleeding within the cyst.Interventions:We operated using a posterior approach. Cyst fenestration was done after S1 laminectomy. We aspirated approximately 1 cc of old blood.Outcomes:His pain was relieved immediately after cyst removal and no neurologic deterioration occurred during the postoperative period.Lessons:Subarachnoid hemorrhage can be the source of the development of pain from asymptomatic PCs, making them symptomatic. Surgical extirpation is 1 treatment option for these symptomatic PCs.     

Transitional care for patients with surgical pediatric hepatobiliary disease: Choledochal cysts and biliary atresia

Choledochal cysts (CDCs) and biliary atresia (BA) are rare pediatric hepatobiliary anomalies that require surgical intervention due to increased risk of malignancy and liver failure, respectively. The underlying disease and operative procedures place patients at risk for long‐term complications, which may continue to affect them into adulthood. Lack of a transitional care model in the health‐care system potentiates the challenges they will face following aging out of their pediatric providers' care. We sought to elucidate the long‐term complications and challenges patients with CDCs and BA face, review the current literature regarding transitioning care, and propose guidelines aiding adult providers in continued care and surveillance of these patients. A literature review was performed to assess short‐term and long‐term complications after surgery and the current standards for transitioning care in patients with a history of CDCs and BA. While transitional programs exist for patients with other gastrointestinal diseases, there are few that focus on CDCs or BA. Generally, authors encourage medical record transmission from pediatric to adult providers, ensuring accuracy of information and compliance with treatment plans. Patients with CDCs are at risk for developing biliary malignancies, cholangitis, and anastomotic strictures after resection. Patients with BA develop progressive liver failure, necessitating transplantation. There are no consensus guidelines regarding timing of follow up for these patients. Based on the best available evidence, we propose a schema for long‐term surveillance.     

The problems and advantages of one lung ventilation during surgical intervention in pulmonary hydatid cyst disease

Background Hydatid disease is the most severe helminthic zoonosis, with an important public health problem especially in rural areas in Turkey. The aim of this study was to review the problems and advantages encountered in surgical treatment of 43 patients who were ventilated with one-lung ventilation during last four years. Methods Patients, operated with one-lung ventilation, constitute the study group. Data related to symptoms, radiographic findings, performed surgical procedures, perioperative and postoperative morbidity, hospitalization time, and cyst recurrence were collected from each individual's records. Results Cystotomy and capitonnage were performed in all cases. Perioperative complications were seen in 5 patients. Four of these 5 patients had double-lumen endotracheal tube malpositioning. In one patient hypoxemia developed. The most common postoperative complication was atelectasis. One patient had recurrent cysts. There was no perioperative or postoperative death. Conclusions We prefer cystotomy and capitonnage because it is a fast and effective technique with limited postoperative complications. One-lung ventilation prevents the exposure of lower lung areas from massive aspiration, which may cause acute obstruction of airways, and contamination by cyst contents from the operative part of the lung that causes recurrent disease. One-lung ventilation in pulmonary hydatid cyst surgery may be preferred owing to lower mortality and morbidity rates.     

460例胃癌纤维胃镜活检标本的病理观察

本文分析了460例胃癌胃粘膜活检资料,结果:男:女为2.36:1:51～60岁年龄组发病率最岛(37.17％);发生部位以胃窦部最多见,占46.74％;组织学分类以低分化腺癌最多,占51 52％;在伴随病变中,畅化生的检出率为21.74％,胃腺囊为35％,胃粘膜上皮异型增生为32.61％。本组材料提示,不完全性大肠型肠化生、异型胃腺囊及胃粘膜中度以上异型增生与胃癌有密切关系。     

Serotonin-induced increase in cAMP in ganglia isolated from the myenteric plexus of the guinea pig small intestine: Mediation by a novel 5-HT receptor

Serotonin (5-HT) is a mediator (through 5-HT_1P receptors) of slow EPSPs in myenteric ganglia of the small intestine. The effect of 5-HT can be mimicked by elevating cAMP; therefore, we tested the hypothesis that the slow EPSP-like response to 5-HT is cAMP-mediated. Guinea pig gut was enzymatically dissociated; myenteric ganglia remained intact and were collected by filtration. Neurons in the isolated ganglia retained their ability to manifest the slow EPSP-like response to 5-HT. Exposure to 5-HT raised the ganglionic level of cAMP (ED₅₀ 0.3 μM). This effect was not antagonized by the 5-HT_1P antagonist, N-acetyl-5-hydroxytryptophyl-5-hydroxytryptophan amide (100.0 μM), or mimicked by the 5-HT_1P agonist, 5-hydroxyindalpine (10.0 μM). Increases in cAMP were also evoked by the 5-HT₁ agonist, 5-carboxyamidotryptamine (10.0 μM), the 5-HT₂ agonist, (±)-1-(2,5-dimethoxy-4-iodophenyl)-2-aminopropane (DOI; 1.0–10.0 μM), and by the 5-HT₄ agonists, renzapride (1.0–10.0 μM) and 5-methoxytryptamine (1.0–10.0 μM); however, neither the 5-HT₁/5-HT₂ antagonists, spiperone, methysergide, and methiothepin, nor the 5-HT₄ antagonist, tropisetron (ICS 205–930; 10.0 μM), were able to inhibit the rise in cAMP evoked by these compounds or by 5-HT (0.1–10.0 μM). The 5-HT-evoked elevation of cAMP was antagonized by ketanserin (10.0 μM), which also blocked the effects of 5-methoxytryptamine and DOI, but not those of renzapride. The effective concentration of DOI, however, was higher than that needed for activation of 5-HT₂ receptors, and Northern analysis using a cDNA probe encoding the rat 5-HT₂ receptor failed to reveal the presence of 5-HT₂ mRNA in myenteric ganglia, although it hybridizes with mRNA of the right size in the guinea pig brain. Compounds that failed to change levels of cAMP or to antagonize the action of 5-HT included 8-hydroxy-di-n-propylamino tetralin, R58639, R88226, and sumatriptan. It is concluded that the receptor responsible for the 5-HT-induced rise in cAMP in ganglia isolated from the guinea pig myenteric plexus is not a known subtype of 5-HT receptor. Since the pharmacology of this novel receptor is different from that of the slow EPSP-like response to 5-HT, the receptor probably does not mediate the slow EPSP. © 1993 Wiley-Liss, Inc.