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Seizure Apr 2024
Topics: Humans; Mutation, Missense; Infant; Potassium Channels, Sodium-Activated; Seizures; Nerve Tissue Proteins; Male; Epilepsy; Potassium Channels, Voltage-Gated; Female; Epilepsies, Partial; Electroencephalography
PubMed: 38461786
DOI: 10.1016/j.seizure.2024.02.020 -
Clinical Journal of Gastroenterology Jun 2024Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is an uncommon genetic disorder inherited in an autosomal recessive pattern that affects the muscles... (Review)
Review
Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is an uncommon genetic disorder inherited in an autosomal recessive pattern that affects the muscles that line the bladder and intestines. The most common genes associated with MMIHS mutations are ACTG2, LMOD1, MYH11, MYL9, MYLK, and PDCL3. However, the complete genetic landscape of MMIHS still needs to be fully understood. The diagnosis of MMIHS can be challenging. However, advances in prenatal and diagnostic techniques, such as ultrasound and fetal urine analysis, have improved the ability to detect the syndrome early. Targeted next-generation sequencing (NGS) and other diagnostic tests can also diagnose MMIHS. The management of MMIHS involves addressing severe intestinal dysmotility, which often necessitates total parenteral nutrition (TPN), which can lead to complications such as hepatotoxicity and nutritional deficiencies. Multivisceral and intestinal transplantation has emerged as therapeutic options, offering the potential for improved outcomes and enteral autonomy. Understanding the genetic underpinnings of MMIHS is crucial for personalized care. While the prognosis varies, timely interventions and careful monitoring enhance patient outcomes. Genetic studies have given us valuable insights into the molecular mechanisms of MMIHS. These studies have identified mutations in genes involved in the development and function of smooth muscle cells. They have also shown that MMIHS is associated with defects in the signaling pathways that control muscle contraction. Continued research in the genetics of MMIHS holds promise for unraveling the complexities of MMIHS and improving the lives of affected individuals.
Topics: Humans; Intestinal Pseudo-Obstruction; Urinary Bladder; Colon; Mutation; Abnormalities, Multiple; High-Throughput Nucleotide Sequencing
PubMed: 38461165
DOI: 10.1007/s12328-024-01934-x -
Translational Cancer Research Jan 2024The field of robotic surgery is still continuously advancing, with several cutting-edge robotic systems currently under development. This study aimed to present the...
BACKGROUND
The field of robotic surgery is still continuously advancing, with several cutting-edge robotic systems currently under development. This study aimed to present the methodology and perioperative outcomes of robot-assisted radical cystectomy (RARC) and intracorporeal urinary diversion (ICUD) in patient with muscle invasive bladder cancer (MIBC) by utilizing the hinotori Surgical Robot System, a recently developed robot-assisted surgical platform.
CASE DESCRIPTION
A 79-year-old man with MIBC, cT2N0M0, received RARC and ICUD after two courses of neoadjuvant chemotherapy. We performed RARC and ICUD using hinotori, with a total operation time of 476 minutes. The insufflation time was 424 minutes, and the console time was 396 minutes. Total blood loss was 562 mL and no blood transfusion was necessary. During the perioperative period, a paralytic ileus occurred, although no severe adverse events were observed. The pathological examination showed ypT0N0M0, and no recurrence was observed by computed tomography scan up to 8 months postoperatively.
CONCLUSIONS
This report demonstrates the successfully implementation of RARC and ICUD using the hinotori system, without perioperative adverse effects. While further exploration is required to assess the long-term and large-scale implications of RARC and ICUD using hinotori on oncologic and functional outcomes, these initial findings suggest that the hinotori Surgical Robot System holds promise as an application for RARC and ICUD in patients with MIBC.
PubMed: 38410228
DOI: 10.21037/tcr-23-991 -
Annals of Transplantation Feb 2024BACKGROUND Mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE) is an autosomal recessive disease caused by thymidine phosphorylase deficiency leading to...
BACKGROUND Mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE) is an autosomal recessive disease caused by thymidine phosphorylase deficiency leading to progressive gastrointestinal dysmotility, cachexia, ptosis, ophthalmoparesis, peripheral neuropathy and leukoencephalopathy. Although liver transplantation corrects thymidine phosphorylase deficiency, intestinal deficiency of the enzyme persists. Retrospective chart review was carried out to obtain clinical, biochemical, and pathological details. CASE REPORT We present a case of liver and subsequent intestine transplant in a 28-year-old man with MNGIE syndrome with gastrointestinal dysmotility, inability to walk, leukoencephalopathy, ptosis, cachexia, and elevated serum thymidine. To halt progression of neurologic deficit, he first received a left-lobe partial liver transplantation. Although his motor deficit improved, gastrointestinal dysmotility persisted, requiring total parenteral nutrition. After exhaustive intestinal rehabilitation, he was listed for intestine transplantation. Two-and-half years after liver transplantation, he received an intestine transplant. At 4 years after LT and 20 months after the intestine transplant, he remains off parenteral nutrition and is slowly gaining weight. CONCLUSIONS This is the first reported case of mitochondrial neurogastrointestinal encephalomyopathy to undergo successful sequential liver and intestine transplantation.
Topics: Male; Humans; Adult; Cachexia; Retrospective Studies; Mitochondrial Encephalomyopathies; Ophthalmoplegia; Intestines; Leukoencephalopathies; Liver; Intestinal Pseudo-Obstruction; Muscular Dystrophy, Oculopharyngeal
PubMed: 38409779
DOI: 10.12659/AOT.941881 -
La Revue de Medecine Interne Mar 2024Gastrointestinal involvement in systemic sclerosis can be severe, reaching the critical point of chronic intestinal pseudo-obstruction, secondary to major disorders of... (Review)
Review
[Severe small bowel involvement and chronic intestinal pseudo-obstruction in systemic sclerosis (scleroderma): Pathophysiological, diagnostic and therapeutic basis, including parenteral nutrition].
Gastrointestinal involvement in systemic sclerosis can be severe, reaching the critical point of chronic intestinal pseudo-obstruction, secondary to major disorders of small bowel motility. It is associated with some clinical and biological characteristics, in particular the positivity of anti-fibrillarin/U3RNP antibodies. Chronic intestinal pseudo-obstruction (CIPO) is complicated by a small intestinal bacterial overgrowth that requires cyclic antibiotic therapy. CIPO leads to a reduction of the food intake, due to painful symptoms, nausea and vomiting caused by meals, and ultimately to severe malnutrition. Meal splitting is often transiently effective and patients require exogenous nutritional support, mostly parenteral. Systemic sclerosis is not an obstacle to initiation and long-term continuation of parenteral nutrition and central venous catheter implantation is not associated with an increased risk of cutaneous or infectious complications. However, continuation of long-term parenteral nutrition requires monitoring in an expert nutrition center in order to adapt nutritional volumes and intakes and to limit potentially fatal cardiac and hepatobiliary complications. In addition to nutrition, prokinetic treatments, whose side effects must be known, can be associated. Invasive procedures, whose risk-benefit ratio must be carefully assessed, can also be used to treat symptoms exclusively.
Topics: Humans; Intestinal Pseudo-Obstruction; Parenteral Nutrition; Intestine, Small; Scleroderma, Systemic; Risk Assessment; Chronic Disease
PubMed: 38388303
DOI: 10.1016/j.revmed.2024.02.001 -
BMJ Case Reports Feb 2024This report describes a case of a patient with active multiple myeloma who was started on bortezomib, cyclophosphamide and dexamethasone and subsequently presented to...
This report describes a case of a patient with active multiple myeloma who was started on bortezomib, cyclophosphamide and dexamethasone and subsequently presented to the emergency department with acute intestinal obstruction one week later. The patient underwent exploratory laparotomy, but no mechanical cause of the obstruction was found. The patient later developed sepsis and eventually died. The possible cause of the intestinal obstruction was attributed to bortezomib, and the paper discusses the potential mechanism of this side effect and its management based on available literature.
Topics: Humans; Bortezomib; Multiple Myeloma; Intestinal Obstruction; Cyclophosphamide; Ileus; Dexamethasone; Antineoplastic Combined Chemotherapy Protocols
PubMed: 38383130
DOI: 10.1136/bcr-2023-257592 -
Medicina Clinica Feb 2024
PubMed: 38378328
DOI: 10.1016/j.medcli.2023.11.040 -
European Journal of Case Reports in... 2024MELAS - an acronym for mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes - is a multiorgan disease caused by a mutation in mitochondrial DNA...
UNLABELLED
MELAS - an acronym for mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes - is a multiorgan disease caused by a mutation in mitochondrial DNA (mtDNA). Its clinical manifestations are highly variable; mainly stroke-like episodes, seizures, recurrent headaches, or muscle weakness. However, gastrointestinal complications such as chronic intestinal pseudo-obstruction (IPO), pancreatitis, gastroparesis and hepatopathy are also common. In this report we describe a young patient with gastrointestinal complication of MELAS which led to superior mesenteric artery syndrome (SMAS). It is rare but not surprising combination and should be considered in cases with significant weight loss and resistance to symptomatic treatment. The optimal energy support is the main pillar of the treatment.
LEARNING POINTS
Gastrointestinal complications of MELAS such as chronic intestinal pseudo-obstruction, pancreatitis and gastroparesis can lead to undernutrition.Superior mesenteric artery syndrome is a rare condition but should be considered in cases with significant weight loss and resistance to symptomatic treatment.Optimal caloric intake and energy support can improve the condition of patients with MELAS.
PubMed: 38352812
DOI: 10.12890/2024_004268 -
Cureus Jan 2024Introduction Hysterectomy is the most common procedure performed in females worldwide in response to a variety of indications. Abdominal and vaginal hysterectomies are...
Introduction Hysterectomy is the most common procedure performed in females worldwide in response to a variety of indications. Abdominal and vaginal hysterectomies are the most common routes preferred but laparoscopic hysterectomy is one of the minimal access methods that are being used more often for hysterectomies. Additionally, there are numerous postoperative complications associated with hysterectomies; therefore, the goal of the present study was to determine the indications, commonly preferred routes of surgery, and associated postoperative complications in hysterectomy. Methodology A prospective observational study was carried out for 14 months in 2018 and 2019. Based on the selection criteria 120 patients who underwent hysterectomy were recruited for the study in which indications for hysterectomy, route of surgery, and associated postoperative complications were assessed. Results The age range of 36-45 accounted for the greatest number of hysterectomies consisting of 47 patients (39.2%) out of 120 participated. Hypertension was the most commonly associated comorbidity in 33 patients (27.5%). The most common indication for hysterectomy was a fibroid in 34 (28.3%) patients and the most preferred route of surgery was through the abdomen in 52 (43.3%) patients. The postoperative complications were more in peripartum hysterectomy and least in vaginal hysterectomy. Conclusion Although hysterectomy is frequently performed to enhance quality of life, it can also be a life-saving treatment. As there is a chance of problems with any surgical operation, the indication needs to be carefully considered. Since there are now a lot of conservative methods available for treating benign gynecological disorders, it is wise to talk to the patient about her options before deciding to remove her uterus surgically.
PubMed: 38344546
DOI: 10.7759/cureus.52031 -
Clinical Neurology and Neurosurgery Feb 2024Severe disorders of consciousness (sDoC) are a common sequela of aneurysmal subarachnoid hemorrhages (aSAH), and amantadine has been used to improve cognitive recovery... (Randomized Controlled Trial)
Randomized Controlled Trial
BACKGROUND
Severe disorders of consciousness (sDoC) are a common sequela of aneurysmal subarachnoid hemorrhages (aSAH), and amantadine has been used to improve cognitive recovery after traumatic brain injury.
OBJECTIVE
This study evaluated the effect of amantadine treatment on consciousness in patients with sDoC secondary to aSAH.
METHODS
This double-center, randomized, prospective, cohort study included patients ≥ 18 years old with sDoC after aSAH from February 2020 to September 2023. Individual patient data of patients were pooled to determine the effect of amantadine, in comparison to placebo. The primary outcomes at 3 and 6 months after the ictus were evaluated using the modified Rankin scale (mRS) and Glasgow outcome scale (GOS). In addition to all-cause mortality, secondary endpoints were assessed weekly during intervention by scores on Rappaport's Disability Rating Scale (RDRS) and Coma Recovery Scale-Revised (CRSR).
RESULTS
Overall, 37 patients with sDoC and initial Glasgow Coma Scale (GCS) varying between 3 and 11 were recruited and randomized to amantadine (test group, n = 20) or placebo (control group, n = 17). The average age was 59.5 years (28 to 81 year-old), 24 (65%) were women, and the mean GCS at the beginning of intervention was 7.1. Most patients evolved to vasospasm (81%), with ischemia in 73% of them. The intervention was started between 30 to 180 days after the ictus, and administered for 6 weeks, with progressively higher doses. Neither epidemiological characteristics nor considerations regarding the treatment of the aneurysm and its complications differed between both arms. Overall mortality was 10.8% (4 deaths). During the study, four patients had potential adverse drug effects: two presented seizures, one had paralytic ileus, and another evolved with tachycardia; the medication was not suspended, only the dose was not increased. At data opening, 2 were taking amantadine and 2 placebo.
CONCLUSION
Despite some good results associated with amantadine in the literature, this study did not find statistically significant positive effects in cognitive recovery in patients with delayed post-aSAH sDoC. Further large randomized clinical trials in patients' subgroups are needed to better define its effectiveness and clarify any therapeutic window where it can be advantageous.
Topics: Adult; Aged; Aged, 80 and over; Female; Humans; Male; Middle Aged; Amantadine; Cohort Studies; Consciousness; Consciousness Disorders; Prospective Studies; Subarachnoid Hemorrhage
PubMed: 38330801
DOI: 10.1016/j.clineuro.2024.108135