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European Journal of Medical Research Sep 2023Hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) are the most frequent cardiomyopathies that cause acute heart failure and sudden cardiac death....
BACKGROUND
Hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) are the most frequent cardiomyopathies that cause acute heart failure and sudden cardiac death. Previous genetic reports have shown that pathogenic variants of genes encoding Z-disc components such as telethonin protein (TCAP) are the primary cause of DCM and HCM.
METHODS
This study was the first investigation on the TCAP gene among the Iranian cardiomyopathies population wherein the TCAP gene was analyzed in 40 unrelated patients (17 females and 23 males) who were clinically diagnosed with HCM and DCM. In addition, we conducted a thorough review of all published articles and the databases that were the first to report novel pathogenic or likely pathogenic variants the in TCAP gene.
RESULTS
In the cohort of this study, we identified only one intronic variant c.111-42G > A in one of the HCM patients that were predicted as polymorphism by in-silico analysis. Moreover, a total of 44 variants were reported for the TCAP gene in the literature where a majority of mutations were found to be missense. Pathogenic mutations in TCAP may cause diseases including limb-girdle muscular dystrophy 2G (LGMD-2G), DCM, HCM, intestinal pseudo-obstruction, and telethonin deficiency. However, a large number of affected patients were clinically diagnosed with limb-girdle 2G compared to other presenting phenotypes.
DISCUSSION
These findings suggest that the TCAP gene pathogenic mutations might not be a common cause of cardiomyopathies among Iranian patients. These gene disease-causing mutations may cause various manifestations, but it has a high prevalence among LGMD-2G, HCM, and DCM patients.
Topics: Female; Humans; Male; Cardiomyopathies; Cardiomyopathy, Dilated; Cardiomyopathy, Hypertrophic; Iran
PubMed: 37752589
DOI: 10.1186/s40001-023-01019-4 -
Cureus Aug 2023Pitt-Hopkins syndrome (PTHS) is a rare, neurodevelopmental genetic disorder caused by mutations in the TCF4 gene. This gene encodes a ubiquitous, class I, basic...
Pitt-Hopkins syndrome (PTHS) is a rare, neurodevelopmental genetic disorder caused by mutations in the TCF4 gene. This gene encodes a ubiquitous, class I, basic helix-loop-helix factor, which is implicated in various developmental and regulatory processes. Predominant clinical manifestations of PTHS include facial dysmorphisms, intellectual disability, absence of expressive language, epilepsy, as well as visual and musculoskeletal impairments. Gastrointestinal (GI) complications, such as chronic intestinal pseudo-obstruction, gastroparesis with delayed bowel transit, chronic constipation culminating in failure to thrive, and gastroesophageal reflux disease (GERD), are also prevalent in these patients. The early identification of pain etiology in PTHS patients poses a significant clinical challenge. This report presents two cases of PTHS patients suffering from gastrointestinal dysmotility, evaluated at our Pediatrics Clinic at the "Microcitemico" Hospital. A review of existing literature was conducted via the PubMed database to elucidate the current understanding of the GI phenotype in PTHS. Twenty articles were deemed most relevant and selected for this purpose. In both patients, severe constipation and abdominal distension resulted in persistent agitation and inconsolable crying. These distress symptoms were completely ameliorated following prompt pharmacological intervention.
PubMed: 37731434
DOI: 10.7759/cureus.43781 -
International Journal of Surgery... Dec 2023To build a novel classifier using an optimized 3D-convolutional neural network for predicting high-grade small bowel obstruction (HGSBO).
Deep learning using computed tomography to identify high-risk patients for acute small bowel obstruction: development and validation of a prediction model : a retrospective cohort study.
OBJECTIVE
To build a novel classifier using an optimized 3D-convolutional neural network for predicting high-grade small bowel obstruction (HGSBO).
SUMMARY BACKGROUND DATA
Acute SBO is one of the most common acute abdominal diseases requiring urgent surgery. While artificial intelligence and abdominal computed tomography (CT) have been used to determine surgical treatment, differentiating normal cases, HGSBO requiring emergency surgery, and low-grade SBO (LGSBO) or paralytic ileus is difficult.
METHODS
A deep learning classifier was used to predict high-risk acute SBO patients using CT images at a tertiary hospital. Images from three groups of subjects (normal, nonsurgical, and surgical) were extracted; the dataset used in the study included 578 cases from 250 normal subjects, with 209 HGSBO and 119 LGSBO patients; over 38 000 CT images were used. Data were analyzed from 1 June 2022 to 5 February 2023. The classification performance was assessed based on accuracy, sensitivity, specificity, and area under the receiver operating characteristic curve.
RESULTS
After fivefold cross-validation, the WideResNet classifier using dual-branch architecture with depth retention pooling achieved an accuracy of 72.6%, an area under receiver operating characteristic of 0.90, a sensitivity of 72.6%, a specificity of 86.3%, a positive predictive value of 74.1%, and a negative predictive value of 86.6% on all the test sets.
CONCLUSIONS
These results show the satisfactory performance of the deep learning classifier in predicting HGSBO compared to the previous machine learning model. The novel 3D classifier with dual-branch architecture and depth retention pooling based on artificial intelligence algorithms could be a reliable screening and decision-support tool for high-risk patients with SBO.
Topics: Humans; Deep Learning; Retrospective Studies; Artificial Intelligence; Tomography, X-Ray Computed; Neural Networks, Computer; Intestinal Obstruction
PubMed: 37720936
DOI: 10.1097/JS9.0000000000000721 -
Digestive Diseases and Sciences Oct 2023Visceral myopathy is a rare, life-threatening disease linked to identified genetic mutations in 60% of cases. Mostly due to the dearth of knowledge regarding its... (Review)
Review
Visceral myopathy is a rare, life-threatening disease linked to identified genetic mutations in 60% of cases. Mostly due to the dearth of knowledge regarding its pathogenesis, effective treatments are lacking. The disease is most commonly diagnosed in children with recurrent or persistent disabling episodes of functional intestinal obstruction, which can be life threatening, often requiring long-term parenteral or specialized enteral nutritional support. Although these interventions are undisputedly life-saving as they allow affected individuals to avoid malnutrition and related complications, they also seriously compromise their quality of life and can carry the risk of sepsis and thrombosis. Animal models for visceral myopathy, which could be crucial for advancing the scientific knowledge of this condition, are scarce. Clearly, a collaborative network is needed to develop research plans to clarify genotype-phenotype correlations and unravel molecular mechanisms to provide targeted therapeutic strategies. This paper represents a summary report of the first 'European Forum on Visceral Myopathy'. This forum was attended by an international interdisciplinary working group that met to better understand visceral myopathy and foster interaction among scientists actively involved in the field and clinicians who specialize in care of people with visceral myopathy.
Topics: Animals; Child; Humans; Quality of Life; Intestinal Pseudo-Obstruction; Malnutrition; Models, Animal; Mutation; Rare Diseases
PubMed: 37650948
DOI: 10.1007/s10620-023-08066-1 -
BJUI Compass Sep 2023Robotic cystectomy is the mainstay surgical intervention for treatment-refractory nonmuscle-invasive and muscle-invasive bladder cancer. However, paralytic ileus may...
Comparing different pneumoperitoneum (12 vs. 15 mmHg) pressures with cytokine analysis to evaluate clinical outcomes in patients undergoing robotic-assisted laparoscopic radical cystectomy and intracorporeal robotic urinary diversion.
BACKGROUND
Robotic cystectomy is the mainstay surgical intervention for treatment-refractory nonmuscle-invasive and muscle-invasive bladder cancer. However, paralytic ileus may complicate the postoperative recovery and may be a consequence of an inflammatory response associated with transient gut ischaemia. We have therefore investigated clinical, operative and inflammatory biomarker associations between paralytic ileus in the context of robotic cystectomy and intracorporeal ileal conduit urinary diversion.
METHODS
Prospective consective patients referred for robotic cystectomy were consented and included in the study, while patients >75 years old and converted to open procedure were excluded. The pneumoperitoneum pressure (PP) for carbon dioxide insufflation required to perform the procedure efficiently and safely was recorded (12 or 15 mmHg). We also recorded the postoperative days patients passed flatus and stools, whether they developed ileus, as well as other standard clinical and demographic data. The expression of select proinflammatory and anti-inflammatory cytokines was determined by multiplex analysis using a cytometric bead array with changes in profiles correlated with the pressures applied and with the existence of an ileus.
RESULTS
Twenty-seven patients were recruited, but only 20 were used in the study with 10 patients in each PP group. Seven patients were excluded all of whom had an extracorporeal ileal conduit formation. There were differences in the 40-min shorter operative time and 1 day shorter length of stay, as well as passing flatus 1 day and stools 1.5 days earlier in the 12 mmHg compared with the 15 mmHg group. More patients had ileus in the 15 mmHg group vs 12 mmHg group (30% vs. 10.0%). These were not statistically significant. Similarly, there were no statistical differences in the expression of proinflammatory cytokines at the two different pressures or between patient groups, but there were outliers, with the median indicating nonsymmetrical distribution. By comparison, anti-inflammatory cytokines showed some significant differences between groups, with IL-6 and IL-10 showing elevated levels postsurgery. No statistical difference was observed between pressures or the existence of an ileus, but the maximum levels of IL-6 and IL-10 detected in some patients reflect a pressure difference.
CONCLUSIONS
The initial findings of this novel scientific study indicated a higher risk of paralytic ileus postrobotic cystectomy and robotic intracorporeal urinary diversion when a higher pressure of 15 mmHg is used compared with 12 mmHg. Although further studies are required to establish the linkage between cytokine profile expression, pressure and ileus, our initial data reinforces the advantages of lower pressure robotic cystectomy and intracorporeal urinary diversion in patient outcomes.
PubMed: 37636200
DOI: 10.1002/bco2.240 -
The American Journal of Case Reports Aug 2023BACKGROUND Mechanical and functional intestinal obstruction are serious postoperative complications. Acute colonic pseudo-obstruction (Ogilvie's syndrome) is an acute...
BACKGROUND Mechanical and functional intestinal obstruction are serious postoperative complications. Acute colonic pseudo-obstruction (Ogilvie's syndrome) is an acute functional obstruction of the large intestine with various causes, including electrolyte disturbances, certain drugs, trauma, hypothyroidism, and, less often, certain procedures, such as abdominal, pelvic, orthopedic, cardiac, and, rarely, thoracic surgeries. It presents with abdominal distension without evidence of mechanical obstruction. This report is of a 66-year-old man with postoperative Ogilvie's syndrome 1 day after diaphragmatic plication surgery CASE REPORT We present a case of a 66-year-old man with no pre-existing chronic diseases who underwent diaphragmatic plication surgery performed to treat symptomatic diaphragmatic eventration, which was associated with chronic colonic dilation. One day after the procedure, the patient experienced hemodynamic instability, abdominal tenderness and distention, leukocytosis, and elevated erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP). An abdominal CT scan revealed massive colonic dilation with interposition of the splenic flexure into the diaphragm. Consequently, the patient underwent emergency exploratory laparoscopy, which was later converted to upper laparotomy, during which colonic decompression was performed without identifying any evidence of incarceration. Subsequently, colonic decompression was repeated via sigmoidoscopy, and no mechanical obstruction was found. Lastly, medical treatment was effective in improving the patient's condition CONCLUSIONS In this complicated case, identifying the definite diagnosis was challenging due to the unusual presentation. This rare case might contribute to recognizing a new risk factor for postoperative colonic obstruction, which is preoperative colonic dilation. Also, this case has highlighted the importance of promptly diagnosing postoperative Ogilvie's syndrome to prevent large-bowel perforation.
Topics: Male; Humans; Aged; Diaphragm; Colonic Pseudo-Obstruction; Postoperative Complications; Thorax; Intestinal Obstruction
PubMed: 37635332
DOI: 10.12659/AJCR.940971 -
Stem Cell Research Sep 2023Visceral myopathies are debilitating conditions characterized by dysfunction of smooth muscle in visceral organs (bowel, bladder, and uterus). Individuals affected by...
Visceral myopathies are debilitating conditions characterized by dysfunction of smooth muscle in visceral organs (bowel, bladder, and uterus). Individuals affected by visceral myopathy experience feeding difficulties, growth failure, life-threatening abdominal distension, and may depend on intravenous nutrition for survival. Unfortunately, our limited understanding of the pathophysiology of visceral myopathies means that current therapies remain supportive, with no mechanism-based treatments. We developed a patient-derived iPSC line with a c.769C > T p.R257C/+ mutation, the most common genetic cause of visceral myopathy. This cell line will facilitate studies of how the ACTG2 R257C heterozygous variant affects smooth muscle development and function.
Topics: Female; Humans; Induced Pluripotent Stem Cells; Actins; Intestinal Pseudo-Obstruction; Intestines; Mutation
PubMed: 37572398
DOI: 10.1016/j.scr.2023.103176 -
The American Surgeon Nov 2023Eosinophilic myenteric ganglionitis (EMG) is a rare pathologic finding within the Auerbach myenteric plexus characterized by eosinophilic infiltration on light...
Eosinophilic myenteric ganglionitis (EMG) is a rare pathologic finding within the Auerbach myenteric plexus characterized by eosinophilic infiltration on light microscopy. The plexus's ultimate obliteration results in chronic intestinal pseudo-obstruction (CIPO). EMG is almost exclusively seen in the pediatric population. The diagnosis of EMG is made through full-thickness rectal biopsy and EMG is not detectable through routine screening measures such as imaging or colonoscopy. The current treatment modality for this disorder is not standardized, and has often been treated with systemic steroids given its eosinophilic involvement. This case presents a 73-year-old male with chronic constipation presenting with new obstipation in the setting of recent orthopedic intervention requiring outpatient opioids. Admission radiographs were consistent with sigmoid volvulus. Following endoscopic detorsion, exploratory laparotomy revealed diffuse colonic dilation and distal ischemia requiring a Hartmann's procedure. Surgical pathology revealed EMG, increasing the complexity of subsequent surgical decision-making after his urgent operation.
Topics: Male; Humans; Child; Aged; Intestinal Volvulus; Colon; Intestinal Pseudo-Obstruction; Myenteric Plexus; Colonoscopy; Sigmoid Diseases
PubMed: 37501639
DOI: 10.1177/00031348231191198 -
Surgical Endoscopy Oct 2023Percutaneous endoscopic cecostomy (PEC) is a viable treatment option for patients with persistent or recurrent acute colonic pseudo-obstruction (ACPO; Ogilvie's... (Review)
Review
INTRODUCTION
Percutaneous endoscopic cecostomy (PEC) is a viable treatment option for patients with persistent or recurrent acute colonic pseudo-obstruction (ACPO; Ogilvie's syndrome). It should be generally considered in patients that are refractory to pharmacologic and endoscopic decompression, especially those not amenable to surgical intervention due to an increased perioperative risk. Physicians are rather unfamiliar with this approach given the limited number of reports in the literature and paucity of guideline resources, although guidelines concerning ACPO and covering the role of endoscopy were recently published by three major expert societies, all within the last 2 years.
PATIENTS AND METHODS
We retrospectively identified three consecutive patients who underwent PEC placement at a Czech tertiary referral center between May 2018 and December 2021: all for recurrent ACPO. In addition, we summarized the current guidelines in order to present the latest knowledge related both to the procedure and management approach in patients with ACPO.
RESULTS
The placement of PEC was successful and resulted in clinical improvement in all cases without any adverse events.
CONCLUSION
The results of our experience are in line with previous reports and suggest that PEC may become a very useful tool in the armamentarium of modalities utilized to treat ACPO. Furthermore, the availability of guideline resources now offers comprehensive guidance for informed decision-making and the procedural aspects.
Topics: Humans; Cecostomy; Colonic Pseudo-Obstruction; Decompression, Surgical; Endoscopy, Gastrointestinal; Lumbar Vertebrae; Retrospective Studies
PubMed: 37500922
DOI: 10.1007/s00464-023-10281-w