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Andes Pediatr 2022 Feb 8;93(1):105-109. Epub 2021 Sep 8.

Hospital Exequiel González Cortés, Universidad de Chile, Santiago, Chile.

Introduction: Chronic constipation is a frequent pathology in the pediatric age that affects the quality of life of pa tients and their families. Its management is usually complex and long associated with poor adheren ce. Toxic megacolon is a serious, potentially lethal disease when chronic constipation is left untreated or poor adherence to treatment. Read More

Sci Rep 2022 Apr 28;12(1):6990. Epub 2022 Apr 28.

Department of Pediatric Surgery, Kyushu University Graduate School of Medical Sciences, Fukuoka, Japan.

Hirschsprung's disease is a congenital entero-neuropathy that causes chronic constipation and intestinal obstruction. New treatments for entero-neuropathy are needed because current surgical strategies have limitations5. Entero-neuropathy results from enteric nervous system dysfunction due to incomplete colonization of the distal intestine by neural crest-derived cells. Read More

Pediatr Surg Int 2022 Jun 8;38(6):883-889. Epub 2022 Apr 8.

Queen's Medical Centre, Nottingham, NG7 2UH, UK.

Purpose: Analysis of outcomes and follow-up of children who underwent the Malone antegrade continence enema (MACE) procedure in a UK tertiary paediatric surgery unit.

Methods: Children who underwent a MACE procedure from 1998 to 2020 were identified. Demographic and clinical data were obtained from contemporaneous records. Read More

NPJ Parkinsons Dis 2022 Mar 24;8(1):31. Epub 2022 Mar 24.

Parkinson-Klinik Ortenau, 77709, Wolfach, Germany.

Growing evidence suggests an increasing significance for the extent of gastrointestinal tract (GIT) dysfunction in Parkinson's disease (PD). Most patients suffer from GIT symptoms, including dysphagia, sialorrhea, bloating, nausea, vomiting, gastroparesis, and constipation during the disease course. The underlying pathomechanisms of this α-synucleinopathy play an important role in disease development and progression, i. Read More

Pan Afr Med J 2022 5;41:11. Epub 2022 Jan 5.

Department of Surgery, Faculty of Medicine, Hasanuddin University, Makassar, Indonesia.

Most cases of Hirschsprung disease (HD) cases are known in newborns or infants. Nevertheless, some cases with mild symptoms are not identified until acute presentations, such as bowel obstruction present in adolescence or adulthood. We reported a 25-year-old male with a history of chronic constipation from childhood presenting with bowel obstruction due to HD. Read More

Cureus 2022 Jan 25;14(1):e21580. Epub 2022 Jan 25.

Internal Medicine, Wright-Patterson Medical Center/Wright State University, Dayton, USA.

A 92-year-old male presented from an outside hospital for treatment of a chronic obstructive pulmonary disease exacerbation (COPD) and subsequently developed worsening abdominal distention with pain during the course of his hospitalization. He was found to have a high-grade large-bowel obstruction with a dilated colon of 20 cm measuring upward. The patient ultimately underwent a hemicolectomy to prevent bowel ischemia and reformation of another volvulus. Read More

Int J Surg Case Rep 2022 Feb 17;91:106777. Epub 2022 Jan 17.

Emergency Surgery and Trauma - Fondazione Policlinico "A. Gemelli" IRCCS, Rome, Italy; Catholic University of Sacred Heart, Rome, Italy.

Introduction And Importance: Chronic idiopathic megacolon is a rare condition characterized by an irreversible distension of the colon in the absence of organic disease. The pathogenesis of this condition is still unclear and the data in literatures are not consistent.

Case Presentation: We report a case of an 87-years-old woman affected by bowel perforation in chronic idiopathic megacolon. Read More

Zhonghua Wei Chang Wai Ke Za Zhi 2021 Dec;24(12):1054-1057

Department of Colorectal Surgery, Changhai Hospital, Naval Medical University, Shanghai 200433, China.

Adult megacolon is a rare disease with heterogeneneous etiology. The treatment schemes of megacolon caused by different causes are also different, but surgery is the final and the most effective method. Due to the lack of early understanding of the disease, many patients have not been clearly diagnosed as adult megacolon and have not been properly treated. Read More

Pathogens 2021 Nov 16;10(11). Epub 2021 Nov 16.

School of Medicine and Health Sciences, Universidad del Rosario, Bogotá 111221, Colombia.

Chronic manifestations of Chagas disease present as disabling and life-threatening conditions affecting mainly the cardiovascular and gastrointestinal systems. Although meaningful research has outlined the different molecular mechanisms underlying infection and the host-parasite interactions that follow, prompt diagnosis and treatment remain a challenge, particularly in developing countries and also in those where the disease is considered non-endemic. This review intends to present an up-to-date review of the parasite's life cycle, genetic diversity, virulence factors, and infective mechanisms, as well as the epidemiology, clinical presentation, diagnosis, and treatment options of the main chronic complications of Chagas disease. Read More

Int J Surg Case Rep 2021 Dec 18;89:106608. Epub 2021 Nov 18.

Faculty of medicine, Alexandria university, Egypy.

Introduction: Sigmoid volvulus (SV) is a rare complication of Hirschsprung's disease (HD) with only 31 cases have been reported in the English literature. Although its diagnosis is challenging, unrecognized SV is a life-threatening condition requiring early recognition to decrease morbidity and mortality.

Presentation Of Case: A 14-year-old male presented to our emergency department with massive abdominal distention. Read More

Nutr Hosp 2021 Dec;38(6):1304-1309

Hospital Universitario Gran Canaria Dr. Negrín.

Introduction: Aim: to communicate the home parenteral nutrition (HPN) data obtained from the HPN registry of the NADYA-SENPE group (www.nadya-senpe.com) for the year 2019. Read More

J Med Genet 2022 02 19;59(2):105-114. Epub 2021 Oct 19.

Department of Embryology and Genetics of Malformations, INSERM UMR 1163, Université de Paris and Institut Imagine, Paris, France

SOX10 belongs to a family of 20 SRY (sex-determining region Y)-related high mobility group box-containing (SOX) proteins, most of which contribute to cell type specification and differentiation of various lineages. The first clue that SOX10 is essential for development, especially in the neural crest, came with the discovery that heterozygous mutations occurring within and around SOX10 cause Waardenburg syndrome type 4. Since then, heterozygous mutations have been reported in Waardenburg syndrome type 2 (Waardenburg syndrome type without Hirschsprung disease), PCWH or PCW (peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, with or without Hirschsprung disease), intestinal manifestations beyond Hirschsprung (ie, chronic intestinal pseudo-obstruction), Kallmann syndrome and cancer. Read More

Am J Med Genet A 2022 02 15;188(2):463-472. Epub 2021 Oct 15.

Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

Ichthyosis follicularis, atrichia, and photophobia syndrome (IFAP syndrome) is a rare, X-linked disorder caused by pathogenic variants in membrane-bound transcription factor protease, site 2 (MBTPS2). Pathogenic MBTPS2 variants also cause BRESHECK syndrome, characterized by the IFAP triad plus intellectual disability and multiple congenital anomalies. Here we present a patient with ichthyosis, sparse hair, pulmonic stenosis, kidney dysplasia, hypospadias, growth failure, thrombocytopenia, anemia, bone marrow fibrosis, and chronic diarrhea found by research-based exome sequencing to harbor a novel, maternally inherited MBTPS2 missense variant (c. Read More

Am J Physiol Gastrointest Liver Physiol 2021 11 6;321(5):G552-G575. Epub 2021 Oct 6.

Division of Gastroenterology, Department of Medicine, Farncombe Family Digestive Health Research Institute, McMaster University, Hamilton, Ontario, Canada.

Our understanding of human colonic motility, and autonomic reflexes that generate motor patterns, has increased markedly through high-resolution manometry. Details of the motor patterns are emerging related to frequency and propagation characteristics that allow linkage to interstitial cells of Cajal (ICC) networks. In studies on colonic motor dysfunction requiring surgery, ICC are almost always abnormal or significantly reduced. Read More

Autops Case Rep 2021 3;11:e2021319. Epub 2021 Sep 3.

Mount Sinai Medical Center, Department of General Surgery, Miami Beach, FL, USA.

Background: The bowel is the most common site of extragenital endometriosis, with involvement of the locoregional sigmoid colon and anterior rectum seen most often. The clinical presentation varies depending on how soon patients seek medical care, thus requiring changes in management strategies. Endometriosis can cause a life-threatening surgical emergency with progressive obliteration of the bowel lumen leading to obstruction and late complications including toxic megacolon and transmural necrosis. Read More

Front Immunol 2021 13;12:714766. Epub 2021 Aug 13.

Immunogenetics Laboratory, Molecular Biology Department, Medicine School in São José do Rio Preto, São José do Rio Preto, Brazil.

Tissue damage observed in the clinical forms of chronic symptomatic Chagas disease seems to have a close relationship with the intensity of the inflammatory process. The objective of this study was to investigate whether the () and () polymorphisms are associated with the cardiac and digestive clinical forms of chronic Chagas disease. Possible influence of these genes polymorphisms on the left ventricular systolic dysfunction (LVSD) in patients with chronic Chagas heart disease was also evaluated. Read More

Cureus 2021 Jul 22;13(7):e16566. Epub 2021 Jul 22.

Gastroenterology and Hepatology, Brookdale University Hospital Medical Center, Brooklyn, USA.

Introduction Inflammatory bowel disease (IBD) is increasingly common among patients with other comorbid chronic conditions, particularly diabetes mellitus (DM). Yet, studies that explored the impact of comorbid diabetes on the outcomes of IBD are scanty. Therefore, this study aims to examine the outcomes of inflammatory bowel disease among hospitalized patients with diabetes mellitus. Read More

Sci Rep 2021 08 9;11(1):16167. Epub 2021 Aug 9.

Department of Veterinary Public Health and Food Safety, Faculty of Veterinary Medicine, Ghent University, Merelbeke, Belgium.

Hirschsprung's disease (HD) is a congenital structural abnormality of the colon seen in approximately 1 to 5000 live births. Despite surgical correction shortly after presentation, up to 60% of patients will express long-term gastrointestinal complaints, including potentially life-threatening Hirschsprung-associated enterocolitis (HAEC). In this study fecal samples from postoperative HD patients (n = 38) and their healthy siblings (n = 21) were analysed using high-resolution liquid chromatography-mass spectrometry aiming to further unravel the nature of the chronic gastrointestinal disturbances. Read More

Int J Clin Pract 2021 Oct 28;75(10):e14626. Epub 2021 Jul 28.

Gastroenterology Unit, Internal Medicine Department, Faculty of Medicine, Alexandria University, Alexandria, Egypt.

Background: Inflammatory bowel diseases are gaining more interest in the past few years. Ulcerative colitis (UC) is a chronic disease that requires accurate follow-up for a good treatment plan. Colonoscopy alone cannot be efficient to detect disease extent and has a high risk of perforation in acute severe UC and toxic megacolon. Read More

BMJ Case Rep 2021 Jun 29;14(6). Epub 2021 Jun 29.

Division of Colorectal Surgery, Department of Surgery, University of the Philippines-Philippine General Hospital, Manila, Philippines.

Idiopathic megacolon (IMC) and idiopathic megarectum (IMR) describe an abnormality of the colon or rectum, characterised by a permanent dilatation of the bowel diameter in the absence of an identifiable cause. We present a 23-year-old woman with chronic constipation and excessive straining during defecation who presented at the emergency department in partial gut obstruction with a palpable fecaloma. Manual faecal disimpaction and a sigmoid loop colostomy was initially done. Read More

BMJ Case Rep 2021 Jun 23;14(6). Epub 2021 Jun 23.

Department of Surgery, St James Hospital, Dublin, Ireland.

Hirschsprung disease (HD) is a gut motility disorder usually diagnosed acutely in infancy, although variants of HD may present later in life with indolent symptoms. This report highlights the rarity of diagnosing HD and hypoganglionosis in adulthood and the nuances that need consideration for their surgical management. We present a report of a 49-year-old man presenting with chronic constipation. Read More

J Pediatr Surg 2022 Mar 21;57(3):387-393. Epub 2021 May 21.

Comprehensive Colorectal Center, Children's Mercy-Kansas City, Kansas City, MO, United States; Department of Surgery, Children's Mercy Hospital Kansas City, MO, United States; University of Missouri-Kansas City School of Medicine, United States. Electronic address:

Introduction: Little is known about psychosocial and behavioral factors that impact the quality of life of patient's with anorectal malformations (ARM) and Hirschsprung disease (HSCR). We aimed to highlight the psychosocial, emotional, and behavioral themes that affect these patients.

Methods: A qualitative literature review of articles published between 1980 and 2019 was performed. Read More

Cureus 2021 Apr 29;13(4):e14751. Epub 2021 Apr 29.

General Surgery, MacDill Air Force Base (AFB), Tampa, USA.

Clostridium difficle (C. diff) is a well known cause of infectious diarrhea across hospitals in the developed world. An anaerobic, gram positive rod bacteria, C. Read More

Intern Med 2021 Nov 7;60(21):3427-3433. Epub 2021 May 7.

Department of Gastroenterology, Internal Medicine, Kitasato University School of Medicine, Japan.

We herein report a rare case of cartilage-hair hypoplasia (CHH) complicated with liver cirrhosis. A 20-year-old Japanese man with CHH was found incidentally to have liver cirrhosis and an esophageal varix. This patient had been treated for infections due to immunodeficiency since early childhood. Read More

J Clin Invest 2021 03;131(6)

The enteric nervous system mediates reflexes independently of the brain and spinal cord and transmits signals bidirectionally between the gut and the brain. Hirschsprung disease and chronic intestinal pseudo-obstruction (CIPO) and pediatric CIPO are examples of congenital defects that impair gastrointestinal motility. In this issue of the JCI, Thuy-Linh Le et al. Read More

Chirurg 2021 Jun 25;92(6):551-558. Epub 2021 Feb 25.

Abteilung für Allgemein und Viszeralchirurgie, BG Klinikum Hamburg, Hamburg, Deutschland.

Background: Patients with paraplegia develop syndrome-specific complications relevant to visceral surgery, which occur in the context of the acute spinal shock or as a consequence of the progressive neurogenic bowel dysfunction (NBD) with the formation of an elongated colon and/or megacolon. Moreover, acute abdominal emergencies, such as acute appendicitis, cholecystitis, diverticulitis and ileus images, pose particular challenges for the clinician when the clinical signs are atypical or even absent. The expansion of indications for obesity surgery to include patients with a paraplegic syndrome, whose independence and quality of life can be impaired due to the restricted mobility, especially by obesity, is becoming increasingly more important. Read More

Case Rep Surg 2021 25;2021:8820724. Epub 2021 Jan 25.

Cairns Base Hospital, Australia.

Background: Chronic megacolon is a rare condition which primarily occurs in patients with autonomic dysfunction of a variety of causes. Its management is often challenging and people with chronic megacolon often suffer from abdominal distension, pain, and malabsorption. Given the struggles clinicians experience in managing these patients long term, this case study provides an example of an alternate strategy for the symptomatic management of chronic megacolon. Read More

PLoS One 2021 9;16(2):e0246692. Epub 2021 Feb 9.

Department of Bioscience and Technology, Institute of Tropical Pathology and Public Health, Federal University of Goias, Goiania, GO, Brazil.

Megacolon is one of the main late complications of Chagas disease, affecting approximately 10% of symptomatic patients. However, studies are needed to understand the mechanisms involved in the progression of this condition. During infection by Trypanosoma cruzi (T. Read More

Sci Rep 2021 02 4;11(1):3191. Epub 2021 Feb 4.

Biomedical Research Center, Chiba University, Chiba, Japan.

The Kif26a protein-coding gene has been identified as a negative regulator of the GDNF-Ret signaling pathway in enteric neurons. The aim of this study was to investigate the influence of genetic background on the phenotype of Kif26a-deficient (KO, -/-) mice. KO mice with both C57BL/6 and BALB/c genetic backgrounds were established. Read More

J Clin Invest 2021 03;131(6)

Department of Genetics, La Pitié-Salpêtrière Hospital, AP-HP, Paris, France.

Hirschsprung disease (HSCR) is the most frequent developmental anomaly of the enteric nervous system, with an incidence of 1 in 5000 live births. Chronic intestinal pseudo-obstruction (CIPO) is less frequent and classified as neurogenic or myogenic. Isolated HSCR has an oligogenic inheritance with RET as the major disease-causing gene, while CIPO is genetically heterogeneous, caused by mutations in smooth muscle-specific genes. Read More