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Life
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Pathophysiology, Diagnosis, and Treatments of Intestinal Diseases
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Pathophysiology, Diagnosis, and Treatments of Intestinal Diseases

A special issue of Life (ISSN 2075-1729). This special issue belongs to the section "Physiology and Pathology".

Deadline for manuscript submissions: 30 November 2025 | Viewed by 7067

Special Issue Editor

Dr. Amosy Ephreim M’Koma

E-Mail Website
Guest Editor
Division of General Surgery, Colon and Rectal Surgery, Vanderbilt University Medical Center, Nashville, TN, USA
Interests: surgery; surgical sciences; inflammatory bowel disease; Crohn’s disease; ulcerative colitis; indeterminate colitis; diagnostics

Special Issue Information

Dear Colleagues,

Productivity depends on a healthy digestive system where the gastrointestinal (GI) tract can produce digestive enzymes, include beneficial gut bacteria, efficiently absorb nutrients, prevent the growth of pathogenic bacteria, and eliminate toxins as well as unwanted substances. Patients with digestive diseases and disorders (DDDs) are susceptible to long-term complications from diseases and the medications prescribed. Why these complications affect patients with GI tract diseases differently needs further studies to understand the bottom line. The ability to accurately diagnose and/or predict outcomes would allow for personalized prophylactic measures and the prevention of pathologic outcomes. Current methods for diagnosing DDDs are painstakingly inaccurate, thus, this Special Issue—Pathophysiology, Diagnosis, and Treatments of Intestinal Diseases—will need to focus on understanding the associated biosignature(s) that can be used in research endeavors to understand the pathophysiology of a DDD and permit diagnosis precision as well as treatment. The pathophysiological conditions of the digestive system are complex, known, and unknown. The pathophysiology of inflammatory bowel disease (IBD), encompassing ulcerative colitis and Crohn’s disease aetiology, remains elusive. Painstakingly, an abnormal immune response is associated with the dysregulation of both innate and adaptive immune responses with no pharmaceuticals for a cure. We remain with more questions than answers.

We invite you, investigators in the field of GI at large, to support this Special Issue by submitting your research innovations and discoveries for publication consideration.

Dr. Amosy Ephreim M’Koma
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Life is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • gastrointestinal disease/disorders
  • pathophysiology
  • diagnostics and treatment

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Published Papers (5 papers)

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Research

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15 pages, 2008 KiB  
Article
Histopathologic Concerns and Diagnostic Challenges in Hirschsprung’s Disease: An Eastern European Single-Center Observational Study
by Emőke Horváth, Zoltán Derzsi, Eliza Löckli, Gyopár-Beáta Molnár, Zsolt Bara, Evelyn Kovács and Horea Gozar
Life 2025, 15(3), 329; https://doi.org/10.3390/life15030329 - 20 Feb 2025
Viewed by 762
Abstract
Background: We proposed a comprehensive clinicopathological study involving the characterization of the study cohort and a comparative analysis of biopsies and surgical specimens from patients with Hirschsprung’s disease. The study was complemented by the diagnostic value of calretinin, CD56, and S-100 immunohistochemistry. Methods: [...] Read more.
Background: We proposed a comprehensive clinicopathological study involving the characterization of the study cohort and a comparative analysis of biopsies and surgical specimens from patients with Hirschsprung’s disease. The study was complemented by the diagnostic value of calretinin, CD56, and S-100 immunohistochemistry. Methods: Descriptive statistical analysis of diagnostic variables in the group of biopsy specimens (n = 32) and bowel resection specimens (n = 16) was performed. The pattern of calretinin and CD56 expression in Meissner’s plexus elements was analyzed and the maximum thicknesses of the nerve fibers were measured using morphometry with S100-immunostained sections. Conclusions: Coupled calretinin–CD56 immunohistochemistry is useful in diagnosing ganglion cell paucity biopsies or specimens with incomplete submucosa. In cases where there are no ganglion cells but there are calretinin-positive nerve fibrils in the lamina propria without nerve trunk (NT) hypertrophy, re-biopsy is the best solution. The significant differences in NT size between biopsies and surgical specimens highlight the importance of assessing NT diameter in all tissue samples examined. Full article
(This article belongs to the Special Issue Pathophysiology, Diagnosis, and Treatments of Intestinal Diseases)
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Review

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27 pages, 2907 KiB  
Review
High-Grade Appendiceal Goblet Cell Adenocarcinoma—A Literature Review Starting from a Rare Case
by Mircea Gheorghe, Rodica Daniela Birla, Anca Evsei-Seceleanu, Luiza Bitina, Ioan Nicolae Mates and Dragos Valentin Predescu
Life 2025, 15(7), 1047; https://doi.org/10.3390/life15071047 - 30 Jun 2025
Viewed by 283
Abstract
Goblet cell adenocarcinomas (GCAs) are an exceedingly rare subtype of tumors, almost exclusively occurring in the appendix, and characterized by features overlapping both adenocarcinomas and neuroendocrine tumors (NETs), which has historically led to confusion and varied nomenclature. This study presents a comprehensive review [...] Read more.
Goblet cell adenocarcinomas (GCAs) are an exceedingly rare subtype of tumors, almost exclusively occurring in the appendix, and characterized by features overlapping both adenocarcinomas and neuroendocrine tumors (NETs), which has historically led to confusion and varied nomenclature. This study presents a comprehensive review of the literature highlighting particularities of this type of malignancy, starting from a rare case of a 54-year-old female operated on in our clinic for an appendiceal tumor, initially suspected to be a mucinous neoplasm based on colonoscopic biopsy, which was ultimately confirmed to be goblet cell adenocarcinoma on both intraoperative frozen section and definitive pathological examination. Exhibiting signs and symptoms associated with an abdominal mass, she underwent a right hemicolectomy with partial omentectomy for locally advanced, high-grade, invasive goblet cell adenocarcinoma of the appendix with lymphatic macro metastases and epiploic invasion, categorized as AJCC stage IVb carcinomatosis. The patient received FOLFOX adjuvant. Six months later, she required reoperation due to the progression of carcinomatosis, which was again confirmed histopathologically. A second-line oncological protocol comprising irinotecan, capecitabine, and bevacizumab was initiated. Given the rarity of GCAs and the absence of a consensus on nomenclature, classification, and diagnostic criteria, we conducted a comprehensive literature review to highlight current trends related to this entity, including its classification within different systems (Tang, Yozu, WHO, AJCC), as well as the therapeutic surgical approaches—ranging from simple appendectomy to extensive multiorgan resection, cytoreductive surgery (CRS) combined with hyperthermic intraperitoneal chemotherapy (HIPEC), and the use of systemic therapy. Adhering to these recommendations will enhance communication among pathologists, surgeons, and oncologists regarding the natural history and prognosis of this rare malignancy. Full article
(This article belongs to the Special Issue Pathophysiology, Diagnosis, and Treatments of Intestinal Diseases)
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18 pages, 14619 KiB  
Review
Severe Rectal Stenosis as the First Clinical Appearance of a Metastasis Originating from the Bladder: A Case Report and Literature Review
by Claudiu Daha, Eugen Brătucu, Ioan Burlănescu, Virgiliu-Mihail Prunoiu, Hortensia-Alina Moisă, Ștefania Ariana Neicu and Laurențiu Simion
Life 2025, 15(5), 682; https://doi.org/10.3390/life15050682 - 22 Apr 2025
Viewed by 678
Abstract
While locally advanced rectal cancer is the first clinical suspicion for severe rectal stenosis, in extremely unusual cases a lower bowel obstruction may be related to bladder metastasis. We present the case of a 64-year-old male who was admitted for occlusive rectal tumor [...] Read more.
While locally advanced rectal cancer is the first clinical suspicion for severe rectal stenosis, in extremely unusual cases a lower bowel obstruction may be related to bladder metastasis. We present the case of a 64-year-old male who was admitted for occlusive rectal tumor (4 cm from the anal verge), for which an emergency loop-colostomy was performed. After two inconclusive endoscopic biopsies, a transanal rectal tru-cut biopsy allowed for the detection of high-grade urothelial carcinoma with signet ring cells. Furthermore, primary origin was detected in a small bladder tumor. In imaging reassessment after neoadjuvant chemotherapy, regression of the lesions both from the bladder and rectum was observed. Radical surgery with total pelvic exenteration was considered in the absence of other secondary tumors, but the patient declined and continued with radiotherapy. Subsequently he developed malignant chylous ascites and unfortunately died three months later. Reviewing the literature, we found twenty-five cases of urothelial metastasis to the rectum, originating from the bladder, including this newly present case. Rectal metastasis of urothelial origin poses a two-fold challenge in terms of both diagnosis and treatment. Determining the specific features of this uncommon manifestation of a common disease will improve future approaches. Full article
(This article belongs to the Special Issue Pathophysiology, Diagnosis, and Treatments of Intestinal Diseases)
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17 pages, 772 KiB  
Review
Irritable Bowel Syndrome: A Hallmark of Psychological Distress in Women?
by Giuseppe Marano, Gianandrea Traversi, Roberto Pola, Antonio Gasbarrini, Eleonora Gaetani and Marianna Mazza
Life 2025, 15(2), 277; https://doi.org/10.3390/life15020277 - 11 Feb 2025
Cited by 2 | Viewed by 3602
Abstract
Irritable bowel syndrome (IBS) is a functional gastrointestinal disorder characterized by abdominal pain, bloating, and altered bowel habits. Women are disproportionately affected by IBS due to a complex interplay between genetic, environmental, and psychosocial factors, along with a crucial role of the gut–brain [...] Read more.
Irritable bowel syndrome (IBS) is a functional gastrointestinal disorder characterized by abdominal pain, bloating, and altered bowel habits. Women are disproportionately affected by IBS due to a complex interplay between genetic, environmental, and psychosocial factors, along with a crucial role of the gut–brain axis in modulating both bowel function and pain perception. Evidence suggests a strong association between psychological distress and IBS symptoms. Women with IBS report higher levels of psychological distress compared to men, and sex is a biological variable that shapes several aspects of the mechanisms, epidemiology, and clinical manifestations of IBS. This paper explores the bidirectional relationship between psychological factors and IBS with a focus on women. Stress, anxiety, depression, and childhood trauma contribute to IBS symptomatology, and societal and biological factors unique to women may exacerbate this condition. Strategies for integrated care approaches and gender-specific treatment strategies to improve patient outcomes and quality of life are needed. Full article
(This article belongs to the Special Issue Pathophysiology, Diagnosis, and Treatments of Intestinal Diseases)
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Other

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7 pages, 2047 KiB  
Case Report
Surgical Management of Perianal Crohn’s Disease with the Turnbull–Cutait Procedure: A Case Report
by Arda Ulaş Mutlu, Hakan Ümit Ünal, Mehmet Gülmez, Can Saraçoğlu, Erman Aytaç and Murat Saruç
Life 2025, 15(3), 460; https://doi.org/10.3390/life15030460 - 14 Mar 2025
Viewed by 683
Abstract
Perianal complications of Crohn’s disease are one of the significant reasons for abdominoperineal resection in patients with medically refractory perianal Crohn’s disease. A 35-year-old man with Crohn’s disease with colostomy presented to our clinic due to perianal fistulas. Complete stricture of the anus [...] Read more.
Perianal complications of Crohn’s disease are one of the significant reasons for abdominoperineal resection in patients with medically refractory perianal Crohn’s disease. A 35-year-old man with Crohn’s disease with colostomy presented to our clinic due to perianal fistulas. Complete stricture of the anus was observed, and the patient was found unsuitable for the stoma closure. The Turnbull–Cutait procedure was performed and he was discharged on the fifth postoperative day. In the second month after surgery, rectoscopy revealed a 2 cm long pouch on the neorectum. Then, the patient was treated with antibiotics and infliximab. Following the treatment, the symptoms of the patient were regressed. In the 10th postoperative month, a perianal abscess was seen, and the patient was treated with antibiotics. His ileostomy was reversed in the 18th postoperative month without any complications. In the 42nd postoperative month, no complications were reported. This case report presents the index perianal Crohn’s disease case successfully treated with the Turnbull–Cutait procedure. Full article
(This article belongs to the Special Issue Pathophysiology, Diagnosis, and Treatments of Intestinal Diseases)
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