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Journal of Clinical Medicine May 2024infections (CDI) vary in severity from mild diarrhea to life-threatening conditions like pseudomembranous colitis or toxic megacolon, often leading to sepsis and death....
infections (CDI) vary in severity from mild diarrhea to life-threatening conditions like pseudomembranous colitis or toxic megacolon, often leading to sepsis and death. The COVID-19 pandemic prompted changes in healthcare practices, potentially affecting CDI incidence, though reported data are inconclusive. We studied factors influencing CDI incidence and outcomes at a university hospital throughout the COVID-19 pandemic years. We conducted a retrospective study on all adult hospitalized CDI cases from 1 January 2020 to 31 December 2022 in Hospital Universitari de Sant Joan in Reus. We collected demographic information, comorbid conditions, and concurrent infections. While overall CDI and COVID-19 rates decreased in 2022, a notable increase in CDI infections was observed among oncological patients and those undergoing some aggressive treatments, such as colonoscopies or gastroscopies. The prevalence of comorbidities remained unmodified, and there were declines in prior gastrointestinal surgeries and proton pump inhibitor prescriptions. Factors associated with patient fatality or prolonged hospitalization included older age, cancer, chronic kidney disease, higher Charlson and McCabe indices, elevated C-reactive protein, and low albumin concentrations. Our study shows the evolving landscape of CDI during the COVID-19 pandemic and emphasizes the impact of delayed diagnoses and treatments exacerbated by telemedicine adoption. Identified risk factors for CDI-related mortality or prolonged hospital stays underscore the importance of targeted interventions in high-risk populations.
PubMed: 38792341
DOI: 10.3390/jcm13102799 -
Medicine May 2024Cartilage-hair hypoplasia (CHH, OMIM # 250250) is a rare autosomal recessive disorder, which includes cartilage-hair hypoplasia-anauxetic dysplasia (CHH-AD) spectrum...
RATIONALE
Cartilage-hair hypoplasia (CHH, OMIM # 250250) is a rare autosomal recessive disorder, which includes cartilage-hair hypoplasia-anauxetic dysplasia (CHH-AD) spectrum disorders. CHH-AD is caused by homozygous or compound heterozygous mutations in the RNA component of the mitochondrial RNA-processing Endoribonuclease (RMRP) gene.
PATIENT CONCERNS
Here, we report 2 cases of Korean children with CHH-AD.
DIAGNOSES
In the first case, the patient had metaphyseal dysplasia without hypotrichosis, diagnosed by whole exome sequencing (WES), and exhibited only skeletal dysplasia and lacked extraskeletal manifestations, such as hair hypoplasia and immunodeficiency. In the second case, the patient had skeletal dysplasia, hair hypoplasia, and immunodeficiency, which were identified by WES.
INTERVENTIONS
The second case is the first CHH reported in Korea. The patients in both cases received regular immune and lung function checkups.
OUTCOMES
Our cases suggest that children with extremely short stature from birth, with or without extraskeletal manifestations, should include CHH-AD as a differential diagnosis.
LESSONS SUBSECTIONS
Clinical suspicion is the most important and RMRP sequencing should be considered for the diagnosis of CHH-AD.
Topics: Humans; Republic of Korea; Osteochondrodysplasias; Male; Female; Hair; Hirschsprung Disease; Mutation; Dwarfism; Primary Immunodeficiency Diseases; Hypotrichosis; Exome Sequencing; Infant; Child, Preschool; Endoribonucleases; Child; RNA, Long Noncoding
PubMed: 38787970
DOI: 10.1097/MD.0000000000037247 -
Cirugia Y Cirujanos 2024
Topics: Humans; Intestinal Volvulus; Hirschsprung Disease; Sigmoid Diseases; Young Adult; Adult
PubMed: 38782395
DOI: 10.24875/CIRU.23000045 -
Canadian Association of Radiologists... May 2024Cancer is the second most common cause of death worldwide. Bowel emergencies in patients with cancer are becoming increasingly more prevalent due to advances in cancer... (Review)
Review
Cancer is the second most common cause of death worldwide. Bowel emergencies in patients with cancer are becoming increasingly more prevalent due to advances in cancer therapy and longer overall patient survival. When these patients present acutely, they are often frail and may have pre-existing co-morbidities. This article discusses the imaging features of bowel emergencies commonly encountered in oncological patients in clinical practice. These include chemotherapy related colitis, neutropenia enterocolitis and typhlitis, toxic megacolon, bowel perforation, malignant bowel obstruction and gastrointestinal haemorrhage. The radiologist plays a key role in identifying these oncological emergencies and guiding further management.
PubMed: 38721789
DOI: 10.1177/08465371241252035 -
BMC Surgery May 2024To comprehensively compare the effects of open Duhamel (OD), laparoscopic-assisted Duhamel (LD), transanal endorectal pull-through (TEPT), and laparoscopic-assisted... (Meta-Analysis)
Meta-Analysis Comparative Study
BACKGROUND
To comprehensively compare the effects of open Duhamel (OD), laparoscopic-assisted Duhamel (LD), transanal endorectal pull-through (TEPT), and laparoscopic-assisted endorectal pull-through (LEPT) in Hirschsprung disease.
METHODS
PubMed, Embase, Cochrane Library, Web of Science, CNKI, WanFang, and VIP were comprehensively searched up to August 4, 2022. The outcomes were operation-related indicators and complication-related indicators. The Grading of Recommendations Assessment, Development and Evaluation (GRADE) approach was used to evaluate the quality of evidence. Network plots, forest plots, league tables and rank probabilities were drawn for all outcomes. For measurement data, weighted mean differences (WMDs) and 95% credibility intervals (CrIs) were reported; for enumeration data, relative risks (RRs) and 95%CrIs were calculated.
RESULTS
Sixty-two studies of 4781 patients were included, with 2039 TEPT patients, 1669 LEPT patients, 951 OD patients and 122 LD patients. Intraoperative blood loss in the OD group was more than that in the LEPT group (pooled WMD = 44.00, 95%CrI: 27.33, 60.94). Patients lost more blood during TEPT versus LEPT (pooled WMD = 13.08, 95%CrI: 1.80, 24.30). In terms of intraoperative blood loss, LEPT was most likely to be the optimal procedure (79.76%). Patients undergoing OD had significantly longer gastrointestinal function recovery time, as compared with those undergoing LEPT (pooled WMD = 30.39, 95%CrI: 16.08, 44.94). The TEPT group had significantly longer gastrointestinal function recovery time than the LEPT group (pooled WMD = 11.49, 95%CrI: 0.96, 22.05). LEPT was most likely to be the best operation regarding gastrointestinal function recovery time (98.28%). Longer hospital stay was observed in patients with OD versus LEPT (pooled WMD = 5.24, 95%CrI: 2.98, 7.47). Hospital stay in the TEPT group was significantly longer than that in the LEPT group (pooled WMD = 1.99, 95%CrI: 0.37, 3.58). LEPT had the highest possibility to be the most effective operation with respect to hospital stay. The significantly reduced incidence of complications was found in the LEPT group versus the LD group (pooled RR = 0.24, 95%CrI: 0.12, 0.48). Compared with LEPT, OD was associated with a significantly increased incidence of complications (pooled RR = 5.10, 95%CrI: 3.48, 7.45). Patients undergoing TEPT had a significantly greater incidence of complications than those undergoing LEPT (pooled RR = 1.98, 95%CrI: 1.63, 2.42). For complications, LEPT is most likely to have the best effect (99.99%). Compared with the LEPT group, the OD group had a significantly increased incidence of anastomotic leakage (pooled RR = 5.35, 95%CrI: 1.45, 27.68). LEPT had the highest likelihood to be the best operation regarding anastomotic leakage (63.57%). The incidence of infection in the OD group was significantly higher than that in the LEPT group (pooled RR = 4.52, 95%CrI: 2.45, 8.84). The TEPT group had a significantly increased incidence of infection than the LEPT group (pooled RR = 1.87, 95%CrI: 1.13, 3.18). LEPT is most likely to be the best operation concerning infection (66.32%). Compared with LEPT, OD was associated with a significantly higher incidence of soiling (pooled RR = 1.91, 95%CrI: 1.16, 3.17). Patients with LEPT had the greatest likelihood not to develop soiling (86.16%). In contrast to LD, LEPT was significantly more effective in reducing the incidence of constipation (pooled RR = 0.39, 95%CrI: 0.15, 0.97). LEPT was most likely not to result in constipation (97.81%). LEPT was associated with a significantly lower incidence of Hirschprung-associated enterocolitis (HAEC) than LD (pooled RR = 0.34, 95%CrI: 0.13, 0.85). The OD group had a significantly higher incidence of HAEC than the LEPT group (pooled RR = 2.29, 95%CrI: 1.31, 4.0). The incidence of HAEC was significantly greater in the TEPT group versus the LEPT group (pooled RR = 1.74, 95%CrI: 1.24, 2.45). LEPT was most likely to be the optimal operation in terms of HAEC (98.76%).
CONCLUSION
LEPT may be a superior operation to OD, LD and TEPT in improving operation condition and complications, which might serve as a reference for Hirschsprung disease treatment.
Topics: Hirschsprung Disease; Humans; Network Meta-Analysis; Bayes Theorem; Laparoscopy; Digestive System Surgical Procedures; Postoperative Complications; Treatment Outcome; Transanal Endoscopic Surgery; Rectum
PubMed: 38702697
DOI: 10.1186/s12893-024-02416-0 -
Diseases of the Colon and Rectum Jul 2024The long-term effects of Hirschsprung disease are clinically variable. An improved understanding of challenges patients may face as adults can help inform transitional...
BACKGROUND
The long-term effects of Hirschsprung disease are clinically variable. An improved understanding of challenges patients may face as adults can help inform transitional care management.
OBJECTIVE
To explore the outcomes and transitional care experiences in adult patients with Hirschsprung.
DESIGN
Cohort study.
SETTING
Single center.
PATIENTS
All patients treated for Hirschsprung between 1977 and 2001 (aged older than 18 years at the time of survey distribution in July 2018-2019). Eligible patients were sent validated multidomain surveys and qualitative questions regarding their transitional care.
MAIN OUTCOME MEASURES
Status of transitional care, bowel function, and quality-of-life assessment. Qualitative analysis of transitional care experience.
RESULTS
Of 139 patients, 20 had received transition care (10 had at least 1 visit but had been discharged and 10 were receiving ongoing follow-up). These patients had inferior bowel function and quality-of-life scores at follow-up. Twenty-three patients (17%) had issues with soiling at the time of discharge, and 7 patients received transitional care. Of these 23 patients, 9 (39%) had a normal Bowel Function Score (17 or more), 5 (22%) had a poor score (less than 12), and 1 had since had a stoma formation. Eighteen patients (13%) had active moderate-severe issues related to bowel function, only 5 had been transitioned, and just 2 remained under ongoing care. Importantly, when these patients were discharged from our pediatric center, at a median age of 14 (interquartile range, 12-16) years, 10 of 17 patients had no perceptible bowel issues, suggesting a worsening of function after discharge.
LIMITATIONS
The retrospective design and reliance on clinical notes to gather information on discharge status as well as patient recall of events.
CONCLUSIONS
There remains a small but significant proportion of Hirschsprung patients for whom bowel function either remains or becomes a major burden. These results support a need to better stratify patients requiring transitional care and ensure a clear route to care if their status changes after discharge. See Video Abstract .
ATENCIN DE TRANSICIN EN PACIENTES CON ENFERMEDAD DE HIRSCHSPRUNG, LOS QUE SE QUEDAN ATRS
ANTECEDENTES:Los efectos a largo plazo de la enfermedad de Hirschsprung son clínicamente variables. Una mejor comprensión de los desafíos que los pacientes pueden enfrentar cuando sean adultos puede ayudar a informar la gestión de la atención de transición.OBJETIVO:Explorar los resultados y las experiencias de atención de transición en pacientes adultos con Hirschsprung.DISEÑO:Estudio de cohorte.AJUSTE:Unico centro.PACIENTES:Todos los pacientes tratados por Hirschsprung 1977-2001 (edad >18 años en el momento de la encuesta, Julio de 2018-2019). A los pacientes elegibles se les enviaron encuestas multidominio validadas, así como preguntas cualitativas sobre su atención de transición.PRINCIPALES MEDIDAS DE RESULTADOS:Estado de la atención de transición, función intestinal y evaluación de la calidad de vida. Análisis cualitativo de la experiencia de cuidados transicionales.RESULTADOS:De 139 pacientes, 20 habían recibido atención de transición (10 tuvieron al menos una visita pero habían sido dados de alta y 10 estaban recibiendo seguimiento continuo). Estos pacientes tenían puntuaciones inferiores de función intestinal y calidad de vida en el seguimiento. Veintitrés (17%) pacientes tuvieron problemas para ensuciarse en el momento del alta y 7 recibieron atención de transición. De estos, 9/23 (39%) tenían una puntuación de función intestinal normal (≥17), 5/23 (22%) tenían una puntuación baja (<12) y un paciente había tenido desde entonces una formación de estoma. Dieciocho (13%) pacientes tenían problemas activos de moderados a graves relacionados con la función intestinal, solo cinco habían realizado la transición y solo 2 permanecían bajo atención continua. Es importante destacar que cuando estos pacientes fueron dados de alta de nuestro centro pediátrico, a una edad promedio de 14 [RIQ 12-16] años, 10/17 no tenían problemas intestinales perceptibles, lo que sugiere un empeoramiento de la función después del alta.LIMITACIONES:El diseño retrospectivo y la dependencia de notas clínicas para recopilar información sobre el estado del alta, así como el recuerdo de los eventos por parte del paciente.CONCLUSIÓN:Sigue existiendo una proporción pequeña pero significativa de pacientes con Hirschsprung para quienes la función intestinal permanece o se convierte en una carga importante. Estos resultados respaldan la necesidad de estratificar mejor a los pacientes que requieren atención de transición y garantizar una ruta clara hacia la atención si su estado cambia después del alta. ( Traducción-Dr. Yesenia Rojas-Khalil ).
Topics: Humans; Hirschsprung Disease; Male; Female; Quality of Life; Adult; Adolescent; Transitional Care; Young Adult; Fecal Incontinence; Transition to Adult Care; Retrospective Studies; Cohort Studies; Surveys and Questionnaires
PubMed: 38653495
DOI: 10.1097/DCR.0000000000003208 -
Orphanet Journal of Rare Diseases Apr 2024Cartilage-hair hypoplasia (CHH) is a rare syndromic immunodeficiency with metaphyseal chondrodysplasia and increased risk of malignancy. In this cross-sectional...
BACKGROUND
Cartilage-hair hypoplasia (CHH) is a rare syndromic immunodeficiency with metaphyseal chondrodysplasia and increased risk of malignancy. In this cross-sectional observational study, we examined HPV status and oral microbiome in individuals with CHH. Oral brush samples were collected from 20 individuals with CHH (aged 5-59 years) and 41 controls (1-69 years). Alpha HPVs (43 types) were tested by nested PCR followed by bead-based probe hybridization. Separately, beta-, gamma-, mu- and nu- HPV types were investigated, and a genome-based bacterial microbiome sequencing was performed.
RESULTS
We found a similar alpha HPV prevalence in individuals with CHH (45%) and controls (36%). The HPV types of individuals with CHH were HPV-16 (25%), 27, 28, and 78, and of controls HPV-3, 16 (21%), 27, and 61. Beta HPV positivity and combined beta/gamma/mu/nu prevalence was detected in 11% and 11% of individuals with CHH and in 5% and 3% of the controls, respectively. Individuals with CHH differed from the controls in bacterial microbiota diversity, richness, and in microbial composition. Individuals with CHH had lower abundance of species Mitsuokella sp000469545, Parascardovia denticolens, Propionibacterium acidifaciens, UMGS1907 sp004151455, Salinicola halophilus, Haemophilus_A paraphrohaemolyticus, Fusobacterium massiliense, and Veillonella parvula, and higher abundance of Slackia exigua.
CONCLUSIONS
Individuals with CHH exhibit similar prevalence of HPV DNA but different bacterial microbiota on their oral mucosa compared to healthy controls. This may partly explain the previously observed high prevalence of oral diseases in CHH, and regular oral examination is warranted.
Topics: Humans; Cross-Sectional Studies; Hair; Hirschsprung Disease; Human Papillomavirus Viruses; Microbiota; Osteochondrodysplasias; Papillomavirus Infections; Prevalence; Primary Immunodeficiency Diseases
PubMed: 38637854
DOI: 10.1186/s13023-024-03164-3 -
Cirugia Pediatrica : Organo Oficial de... Apr 2024Hirschsprung's disease (HD) is characterized by the absence of ganglion cells in the submucosal and myenteric plexuses of the colon as a result of disorders in the...
INTRODUCTION
Hirschsprung's disease (HD) is characterized by the absence of ganglion cells in the submucosal and myenteric plexuses of the colon as a result of disorders in the migration and differentiation of enteric neural crest cells during embryogenesis. It is a cross-factor condition, with more than 11 genes identified in its pathogenesis, including the RET proto-onco gene.
CASE REPORTS
We present the case of two siblings with total colon HD where a potentially pathogenic variant of the RET gene was found. Their father also had this condition.
DISCUSSION
Prenatal diagnosis through genetic testing allows for informed decisions and care planning for the newborn, thus reducing delayed diagnosis and treatment, and minimizing long-term complications. Mutations such as the RET gene variant highlight the importance of the genetic approach in understanding and managing HD.
Topics: Female; Humans; Infant, Newborn; Pregnancy; Hirschsprung Disease; Mutation; Prenatal Diagnosis; Proto-Oncogene Proteins c-ret
PubMed: 38623803
DOI: 10.54847/cp.2024.02.19 -
SAGE Open Medical Case Reports 2024We hereby present a 70-year-old male Ethiopian farmer who presented with clinical manifestations suggestive of acute large bowel obstruction, which had persisted for 3...
We hereby present a 70-year-old male Ethiopian farmer who presented with clinical manifestations suggestive of acute large bowel obstruction, which had persisted for 3 days. Over the past 3 years, he has experienced three similar recurring episodes, which were alleviated by decompression using a rectal tube. Upon initial examination, the patient displayed signs of cardiopulmonary distress, although no indications of peritonitis were observed. Further evaluation through plain abdominal and chest X-rays revealed findings consistent with sigmoid volvulus, as well as mediastinal shift, elevated diaphragm, and a right-positioned heart. Consequently, a sigmoid resection and an end colostomy were done. The patient showed improvement and was discharged from the hospital on the 14th day following the surgery. It is atypical for an individual to present with acute sigmoid volvulus accompanied by a mediastinal shift resulting from mass action on the hemidiaphragm. Therefore, it may be imperative to involve a pulmonologist in managing this rare situation. By ensuring that the surgical team is well-informed in such circumstances, patients can receive enhanced care and treatment.
PubMed: 38606032
DOI: 10.1177/2050313X241246658