Achalasia is a rare esophageal motility disorder characterized by nonrelaxation of the lower esophageal sphincter. Laparoscopic Heller myotomy (LHM) is the gold standard treatment for achalasia. Peroral endoscopic myotomy (POEM), a less invasive treatment, is performed extensively, and the selection of the intervention method remains debatable to date. In addition to the availability of extensive studies on short-term outcomes, recent studies on the long-term outcomes of LHM and POEM have shown similar clinical success after 5 y of follow-up. However, gastroesophageal reflux disease (GERD) was more common in patients who had undergone POEM than in those who had undergone LHM. Moreover, existing studies have compared treatment outcomes in various disease states. Some studies have suggested that POEM is superior to LHM for patients with type III achalasia because POEM allows for a longer myotomy. Research on treatment for sigmoid types is currently in progress. However, the long-term results comparing LHD and POEM are insufficient, and the best treatment remains controversial. Further research is needed, and treatment options should be discussed with patients and tailored to their individual needs and pathologies.

Achalasia is an uncommon disorder affecting esophageal motility. Occasionally, the appearance of a dilated esophagus in achalasia may resemble an extracardiac tumor when observed through transthoracic echocardiography. Left atrial compression due to extensive esophageal dilation is also rare, potentially leading to hemodynamic compromise. Here, we present a rare case involving left atrial compression caused by esophageal dilation in achalasia, with echocardiographic findings mimicking those of an extracardiac tumor.

Achalasia can significantly impair the quality of life. The clinical presentation typically includes dysphagia to both solids and liquids, chest pain, and regurgitation. Diagnosis can be delayed in patients with atypical presentations, and they might receive a wrong diagnosis, such as gastroesophageal reflux disease (GERD), owing to overlapping symptoms of both disorders. Although the cause of achalasia is poorly understood, its impact on the motility of the esophagus and gastroesophageal junction is well established. Several treatment modalities have been utilized, with the most common being surgical Heller myotomy with concomitant fundoplication and pneumatic balloon dilatation. Recently, peroral endoscopic myotomy (POEM) has gained popularity as an effective treatment for achalasia, despite a relatively high incidence of GERD occurring after treatment compared to other modalities. The magnitude of post-POEM GERD depends on its definition and is influenced by patient and procedure-related factors. The long-term sequelae of post-POEM GERD are yet to be determined, but it appears to have a benign course and is usually manageable with clinically available modalities. Identifying risk factors for post-POEM GERD and modifying the POEM procedure in selected patients may improve the overall success of this technique.

A 4-year-old male with Klinefelter syndrome (KS), speech delay, and intermittent history of coughing and choking during meals was referred for evaluation. Prior evaluation with computed tomography showed a dilated esophagus at the gastroesophageal junction. The patient was unable to tolerate a barium swallow. Upper endoscopy was performed, and an intraoperative esophagogram, demonstrated a \"birds beak\" appearance suggestive of achalasia. There is no documented relationship between achalasia and KS. However, we utilized TriNetX (a large-scale data clearinghouse) to demonstrate a higher prevalence of achalasia in patients with KS as compared to the general population.

Gastroesophageal reflux disease (GERD) is the most prevalent gastrointestinal disorder posing diagnostic and therapeutic challenges. Diagnosis should be objectively defined with endoscopy and pH testing, while novel metrics may augment diagnosis for inconclusive GERD cases, including the postreflux swallow-induced peristaltic wave index and esophageal mucosal impedance. Conditions that overlap with or mimic GERD should be considered such as achalasia, rumination, and eosinophilic esophagitis. Genetic testing for proton pump inhibitor metabolism is an option for precision therapy in complex persistent GERD. Proton pump inhibitor refractory GERD may require medical, surgical, or endoscopic therapies. The presence of GERD should be objectively evaluated in achalasia patients treated with peroral endoscopic myotomy, and further studies are needed to determine timing of this evaluation. Patients with scleroderma are at a high risk for GERD owing to abnormal esophageal motility and should be managed with aggressive medical therapy and lifestyle changes given the high prevalence of esophagitis and Barrett\'s esophagus in this population. Further studies are needed to understand the complex mechanisms of GERD in idiopathic pulmonary fibrosis and lung transplantation.

Immune-mediated gastrointestinal (GI) diseases, including achalasia, celiac disease, and inflammatory bowel diseases, pose significant challenges in diagnosis and management due to their complex etiology and diverse clinical manifestations. While genetic predispositions and environmental factors have been extensively studied in the context of these conditions, the role of viral infections and virome dysbiosis remains a subject of growing interest. This review aims to elucidate the involvement of viral infections in the pathogenesis of immune-mediated GI diseases, focusing on achalasia and celiac disease, as well as the virome dysbiosis in IBD. Recent evidence suggests that viral pathogens, ranging from common respiratory viruses to enteroviruses and herpesviruses, may trigger or exacerbate achalasia and celiac disease by disrupting immune homeostasis in the GI tract. Furthermore, alterations in the microbiota and, specifically, in the virome composition and viral-host interactions have been implicated in perpetuating chronic intestinal inflammation in IBD. By synthesizing current knowledge on viral contributions to immune-mediated GI diseases, this review aims to provide insights into the complex interplay between viral infections, host genetics, and virome dysbiosis, shedding light on novel therapeutic strategies aimed at mitigating the burden of these debilitating conditions on patients\' health and quality of life.

UNASSIGNED: Solid pseudopapillary tumor is a low-grade malignancy of the pancreas and predominantly affects young women. This neoplasm is a rare pancreatic entity with vague clinical presentation. Diagnosis is often incidental through imaging or even during surgical approach for another condition.
UNASSIGNED: A 22-year-old Brazilian female with gastrointestinal symptoms was diagnosed with achalasia and underwent Heller myotomy. Intraoperatory findings included an enlarging mass in the distal pancreas. During follow-up for the surgical approach of achalasia, a hypothesis of Frantz\'s tumor was stated, and spleen-preserving distal pancreatectomy was performed.
UNASSIGNED: The pathological pathways of Frantz\'s tumor is still unclear, and its connection with chromosomal abnormalities is under investigation. Although the tumor has been reclassified over the years to solid pseudopapillary tumor, surgical resection remains the standard treatment.
UNASSIGNED: Despite a surgical challenge, surgery presents a great prognosis in these patients and long-term survival. High suspicion and proper investigation are fundamental to diagnosis and early treatment.

UNASSIGNED: This case emphasizes the need for early recognition and accurate diagnosis of achalasia in young adults to avoid exacerbation of the condition and misdiagnosis as GERD. Patient outcomes and quality of life are greatly enhanced by suitable diagnostic techniques, appropriate therapy, interdisciplinary care, and comprehensive patient education along with frequent follow-ups.
UNASSIGNED: Achalasia results from the degeneration of inhibitory ganglion cells within the esophageal myenteric plexus and the lower esophageal sphincter (LES), leading to a loss of inhibitory neurons and resulting in the absence of peristalsis with failure of LES relaxation. Its origins are multifactorial, potentially involving infections, autoimmune responses, and genetics, with equal incidence in males and females. The hallmark symptoms include progressive dysphagia for solids and liquids, along with regurgitation, heartburn, and non-cardiac chest pain. A 22-year-old female patient initially diagnosed with gastroesophageal reflux disease (GERD) received proton pump inhibitors and antacid gel for persistent dysphagia and regurgitation. Subsequent tests including barium esophagogram and manometry indicated Type II Achalasia Cardia. The patient showed clinical improvement with relief of dysphagia, regurgitation, and heartburn symptoms after pneumatic balloon dilatation (PBD). She was advised to follow up after 6 months with upper gastrointestinal (UGI) endoscopy and manometry in the outpatient clinic for regular endoscopic surveillance as there is a risk of transformation to esophageal carcinoma. Diagnosing achalasia in young adults poses challenges due to its diverse presentation and resemblance to other esophageal disorders like GERD. Diagnosis relies on clinical symptoms and imaging studies such as barium esophagogram revealing a bird\'s beak appearance and esophageal manometry showing absent peristalsis. UGI endoscopy is needed to rule out malignancy. Treatment options include non-surgical approaches like medication and Botox injections, as well as surgical methods such as pneumatic balloon dilation, laparoscopic Heller myotomy, and per-oral endoscopic myotomy (POEM). The treatment options depend upon the patient\'s condition at presentation and their individual choices. This case report emphasizes that it is crucial to consider achalasia as a potential differential diagnosis in young adults with dysphagia, especially if conventional treatments for acid peptic disorder do not alleviate symptoms. Prompt diagnosis and appropriate management can lead to significant clinical improvement and better patient outcomes.

BACKGROUND: Peroral endoscopic myotomy (POEM) is the standard treatment for achalasia. Functional luminal imaging probe (FLIP) technology enables objective measurement of lower esophageal sphincter (LES) geometry, with literature linking specific values to improved post-POEM outcomes. Our study assesses FLIP\'s intraoperative use in evaluating myotomy extent in real-time.
METHODS: Retrospective data from all patients undergoing POEM with intraoperative FLIP measurements were extracted from June 2020 to January 2023. The primary endpoint was intraoperative FLIP measurements, management changes, and symptom improvement (Eckardt score).
RESULTS: Fourteen patients (age 56 ± 14 years, BMI 28 ± 7 kg/m2) were identified. Most patients were female (64%). Predominantly, patients presented with type II achalasia (50%). FLIP measurements were taken before and after myotomy, demonstrating increases in mean distensibility index (DI) 1.6 ± 1. 4 to 5.4 ± 2.1 mm2/mmHg (p < 0.05) and mean diameter (Dmin) 6 ± 1.8 to 10.9 ± 2.3 mm (p < 0.05) at 50 ml balloon fill. Additional myotomy was performed in one patient when an inadequate increase in FLIP values were noted. Mean operative time was 98 ± 28 min, and there were no intraoperative complications. At the 30-day follow-up, median Eckardt score decreased from mean a preoperative score of 7 ± 2 to a post-operative mean of 2 ± 3, with 10 patients (78%) having a score ≤ 2. In total, four patients experienced symptom recurrence, with repeat FLIP values revealing a significant decrease in DI from 7 ± 2.2 post-POEM to 2.5 ± 1.5 at recurrence. FLIP technology identified LES pathology in 3 out of 4 (75%) patients, facilitating referral to LES-directed therapy.
CONCLUSIONS: Our study adds to the literature supporting the use of FLIP technology during the POEM procedure, with most patients achieving ideal values after a standard-length myotomy. This suggests the potential benefits of shorter myotomies guided by FLIP to achieve comparable outcomes and reduce postoperative GERD risk. Collaborative standardization of study designs and outcome measures is crucial for facilitating prospective trials and cross-setting outcome comparisons.

Nuclear pore complexes (NPCs) regulate nucleocytoplasmic transport and are anchored in the nuclear envelope by the transmembrane nucleoporin NDC1. NDC1 is essential for post-mitotic NPC assembly and the recruitment of ALADIN to the nuclear envelope. While no human disorder has been associated to one of the three transmembrane nucleoporins, biallelic variants in AAAS, encoding ALADIN, cause triple A syndrome (Allgrove syndrome). Triple A syndrome, characterized by alacrima, achalasia, and adrenal insufficiency, often includes progressive demyelinating polyneuropathy and other neurological complaints. In this report, diagnostic exome and/or RNA sequencing was performed in seven individuals from four unrelated consanguineous families with AAAS-negative triple A syndrome. Molecular and clinical studies followed to elucidate the pathogenic mechanism. The affected individuals presented with intellectual disability, motor impairment, severe demyelinating with secondary axonal polyneuropathy, alacrima, and achalasia. None of the affected individuals has adrenal insufficiency. All individuals presented with biallelic NDC1 in-frame deletions or missense variants that affect amino acids and protein domains required for ALADIN binding. No other significant variants associated with the phenotypic features were reported. Skin fibroblasts derived from affected individuals show decreased recruitment of ALADIN to the NE and decreased post-mitotic NPC insertion, confirming pathogenicity of the variants. Taken together, our results implicate biallelic NDC1 variants in the pathogenesis of polyneuropathy and a triple A-like disorder without adrenal insufficiency, by interfering with physiological NDC1 functions, including the recruitment of ALADIN to the NPC.