rectal biopsy
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2021 ◽  
Vol 148 (12) ◽  
pp. 108-114
Author(s):  
Trinh Le Huy ◽  
Pham Duy Manh

Gastrointestinal metastasis in lung cancer is not commonly encountered clinically, of which rectal involvement is a sporadic event. There were few reports about rectal metastasis in lung cancer. All of them had a dismal prognosis. We report a case of synchronous rectal metastasis in a lung cancer patient with a different clinical scenario, treatment, and prognosis. The patient presented with infrequent hematochezia due to a rectal mass confirmed as adenocarcinoma on core biopsy. Computer tomography showed many nodules in both lungs, which raised the initial diagnosis of pulmonary metastasis in rectal cancer. However, we decided to perform immunohistochemistry on the rectal biopsy specimen, which, surprisingly, revealed the site of origin was from the lung. Subsequently, next gene sequencing was performed and detected an exon 19 deletion on the EGFR gene. Though he had infrequent hematochezia, we decided to treat him with Erlotinib (a first-generation TKI) and closely monitored the rectal symptoms. Six months later, he achieved a complete response of both lung and rectal lesions. At present, he has been progression-free for 14 months. Thus, physicians should always be aware of this differential diagnosis in synchronous tumors and carefully consider the optimal treatment to start.


Author(s):  
Anushri Kale ◽  
Aditi Badwaik ◽  
Pallavi Dhulse ◽  
Archana Maurya ◽  
Bibin Kurian

Introduction: Hirschsprung's disease is the most common cause of large intestinal obstructing in neonates. Hirschsprung's disease is a congenital anomaly caused by migratory failure of neural crest cells leading to abnormal innervations of the bowel .The defect begins in the internal and sphincter and extends proximally for a variable length of gut. Hirschprung's disease is a disorder of the gut caused due to congenital absence of ganglion cells in the sub-mucosal and myenteric plexus of intestine. This disease is also known as megacolon or congenital Aganglionic megacolon. Case presentation: A 2 years old male child, known case of Hirschprung’s disease, was brought to AVBRH for further management. As narrated by the mother, the child was not passing stool since birth. There was no history of abdominal distention, vomiting or fever. The child pass the stool with the help of enema which was given to the child in the morning and evening. Mast. Devansh has past history of NICU stay. In View of not passing stools, USG of abdomen and pelvis done. Endorectal pull through surgery was done on 4/02/2021 under general anesthesia. No any past surgical history. There is a past history of rectal biopsy done in 1 1/2 month of age. Conclusion:The patient was admitted in AVBRH for further management. Then the report mainly focused on surgical management and quality nursing care due to which patient was discharged without any further complication and satisfaction.


Author(s):  
Emilie G. Jaroy ◽  
Ragnhild Emblem ◽  
Henrik M. Reims ◽  
The Tien Mai ◽  
Gabriel T. Risa ◽  
...  

Abstract Purpose Children with constipation and suspected Hirschsprung’s disease are referred for rectal biopsy. Since this is an invasive procedure, appropriate indications should be applied to minimize the number of “unnecessary” biopsies. Methods We reviewed all constipated children who underwent a rectal biopsy to diagnose a possible Hirschsprung’s disease at a tertiary referral hospital over a 6-year period (2013–2018). We registered clinical and demographic factors in these children and conducted correlation and multivariate regression analysis to evaluate the relation between these factors and a diagnosis of Hirschsprung’s disease. Results We identified 225 children, aged 0–17 years. In total, Hirschsprung’s disease was diagnosed in only 49/225 (22%). Among the 49 children with Hirschsprung’s disease, 29 (59%) were diagnosed in the neonatal period. Among girls, HD was confirmed in only 10/101 (10%) children, and only 1 of these 10 girls was older than 6 months at the time of the biopsy. The following factors correlated significantly with Hirschsprung’s disease diagnosis in children older than 1 month: “male sex”, “failure to thrive”, “gross abdominal distention plus vomiting” and “fulfils the Rome 4 criteria for functional constipation”. Conclusion In children referred for rectal biopsy, the factors most indicative of Hirschsprung’s disease were “male sex”, “failure to thrive”, “gross abdominal distention plus vomiting” and “fulfils the Rome 4 criteria for functional constipation”. Notably, the prevalence of Hirschsprung’s disease decreased with the increasing age of the children. Girls referred for a biopsy rarely had Hirschsprung’s disease, especially those older than 1 month.


2021 ◽  
Vol 4 (1) ◽  
Author(s):  
Fabio Dantas de Paula ◽  
Glicia Estevam de Abreu ◽  
Maiara Ferreira de Souza ◽  
Luiz Antonio Rodrigues de Freitas ◽  
Daniel Abensur Athanazio

Abstract Background Although usually believed to be harmless, intestinal spirochetosis may active erosive colitis associated with intestinal spirochetosis that may mimic idiopathic chronic inflammatory bowel disease. Case presentation. A 49-year-old homosexual male patient sought medical assistance due to asthenia, rectal bleeding, tenesmus, and diarrhea for one month. He had been using corticosteroids for nine months to treat sciatic nerve pain. Colonoscopy showed rectum and distal sigmoid with diffuse erythema with many surface erosions. Rectal biopsy showed inflammatory changes including chronic changes such as architectural distortion and basal plasmacytosis, and active inflammation including crypt microabscesses. In all large bowel sample, dense colonization of intestinal spirochetosis was observed. Patient also had a positive PCR testing for Chlamydia trachomatis. The patient was treated with metronidazole for 14 days, ciprofloxacin for 14 days and azithromycin (single dose). Symptoms improved and the patient is asymptomatic after two months of follow-up. Conclusion In some high-risk groups, intestinal spirochetosis may cause colonic manifestations with overlapping features with intestinal bowel diseases. Awareness of this association is importance since proper antibiotic therapy against Brachyspira (metronidazole) is highly effective. Coinfection with other sexually transmitted infections is common and proper treatment is required.


2021 ◽  
Vol 4 (4) ◽  
pp. e000319
Author(s):  
Harriet J Corbett ◽  
Ramanand Jeeneea ◽  
Iain Hennessey

IntroductionSuction rectal biopsy (SRB) is a key diagnostic tool in Hirschsprung’s disease. The original Noblett device has been superseded by modern alternatives including the Rbi2 rectal biopsy gun. We describe a comparison of biopsy results from the Noblett device and the Rbi2 gun and an investigation into significant post-biopsy bleeding episodes with the latter.MethodsA retrospective review of SRB episodes between 2006 and 2014 was undertaken to audit biopsy success rates. Significant post-procedure bleeding after SRB with the Rbi2 gun prompted further investigations.ResultsBiopsies taken with the Noblett gun were more likely to be inadequate (Noblett 82/197 (40%) vs Rbi2 77/438 (18%)). After biopsy with the Rbi2 gun, 2 infants suffered from significant bleeding requiring resuscitation, blood product support and multiple theater episodes. As there were no reported cases of bleeding with the Rbi2 gun, a report was made to the Medicines & Healthcare products Regulatory Agency who identified incorrect biopsy technique as a potential contributing factor. A questionnaire of trainees and consultants found unexpected individual variation in SRB technique, with some users applying excessive suction.ConclusionsSignificant bleeding occurred after SRB with the Rbi2 gun, excessive suction was thought to be the cause.


2021 ◽  
Vol 9 ◽  
Author(s):  
Yanan Zhang ◽  
Yongwei Chen ◽  
Shen Yang ◽  
Yichao Gu ◽  
Kaiyun Hua ◽  
...  

Purpose: Most pediatric surgeons give little attention to the diagnosis of Hirschsprung disease (HD) in preterm infants. We aimed to explore the safety and accuracy of suction rectal biopsy (SRB) for diagnosing HD in preterm infants.Methods: A retrospective review was conducted of 45 preterm patients who underwent SRB from 2015 to 2019 in our hospital. We collected the clinical characteristics and pathology results of the patients and information on follow-up. The sensitivity and specificity of SRB for HD diagnosis were calculated.Results: The median gestational age of the patients was 35 weeks (range: 28.9–36.9 weeks), the median gestational age at biopsy was 38.6 weeks (range: 33.4–60.0 weeks), and the median weight was 2,790 g (range: 1,580–4,100 g). Fifteen patients (33.3%) were positive for HD, which was confirmed after pull-through surgery. Ganglion cells were present in 30 patients. The diagnosis of HD was excluded in 29 patients after discharge follow-up. The sensitivity of SRB ranged from 93.7 to 100%, and the specificity was 100%. No complications occurred after SRB among the patients whose biopsy age was <37 weeks (10 patients) or biopsy weight was <2,000 g (five patients).Conclusion: SRB is accurate and safe for diagnosing HD in late preterm infants.


Author(s):  
Pallavi Dhole

Introduction: This disorder characterized by absence of particular nerve cells (ganglions) in a segment of the bowel in an infant. Ganglion cell absence allows the muscles of the intestines to lose their capacity to pass faeces across the peristalsis of the intestine. This condition affects the large intestine and causes problem with passing stool. The condition is congenital. In around 1 out of 5000 live births, Hirschsprung disease occurs and is three times more frequent in boys than girls. About 12% of cases are due to genetic disorders. Patient history: A 2 years old male was admitted in A.V.B.R. Hospital in paediatric ward. His chief complaint was inability to pass stools on his own, fever, vomiting, constipation. Paediatric history: This male child was born by Lower segment caesarean section. At the age of 17 months, the complaint started with inability to pass stool on his own. After that his parents approached A.V.B.R. Hospital and Doctor advised for further medical and surgical management. Main symptoms and importance of clinical findings: The patient had undergone various investigations like blood tests, USG, Physical examination and. rectal biopsy and per abdominal x-ray. Medical Management: Patient was treated with trans-anal endorectal pull through surgery under general anaesthesia Nursing management: Administered fluid replacement i.e. DNS and RL, monitored all vital signs checked 8 hourly. Conclusion: The 2 years old male was admitted in A.V.B.R. Hospital in paediatric ward. His chief complaint was inability to pass stools on his own, fever, vomiting, constipation etc. after undergoing investigation he was diagnosed as Hirschsprung’s disease.


2021 ◽  
pp. 109352662110301
Author(s):  
Heather Rytting ◽  
Zachary J Dureau ◽  
Jose Velazquez Vega ◽  
Beverly B Rogers ◽  
Hong Yin

Background Absent submucosal ganglion cells in biopsies 1-3 cm above the pectinate line establishes the pathologic diagnosis of Hirschsprung Disease (HD). Calretinin stains both ganglion cells and their mucosal neurites and has gained importance in HD diagnosis. Absent calretinin positive mucosal neurites in biopsies at the appropriate level above the pectinate line is highly specific for HD. Whether this applies to lower biopsies is uncertain. To address this, we studied anorectal canal autopsy specimens from infants. Methods We performed an autopsy study of infant anorectal canal specimens to describe calretinin staining in this region. Calretinin staining was correlated with histologic and gross landmarks. Results In all 15 non-HD specimens, calretinin positive mucosal neurites were present in glandular mucosa up to the anorectal line where neurites rapidly diminished. Age range was preterm 26 weeks to 3 months. Conclusions Calretinin positive mucosal neurites are present in glandular mucosa up to the anorectal line in young infants. This is potentially important regarding neonatal HD biopsy level and diagnosis. Positive calretinin staining at the anorectal line favors normal innervation making HD unlikely. Absent calretinin positive neurites in glandular mucosa is worrisome for HD in young infants, regardless of location.


2021 ◽  
Vol 2 (2) ◽  
pp. 91-95
Author(s):  
Herry Wibowo

Abstract— The diagnosis of Hirschprung's disease is made with barium enema and rectal biopsy in full thickness. The Duhamel procedure was performed in 8 cases in 2008 for cases of Hirschsprung's disease. Age range of patients 7 months to 11 years. The average body weight when operated on is 7-21 kg. Morbidity and mortality after surgery were not launched. Anorectal myectomy with low anterior resection, the Duhamel-Martin procedure, and the Soave pull-through endorectal procedure are the most acceptable methods for surgical management. Hirschsprung's disease was treated in Syaiful Anwar Hospital Malang in 2008 with the following data: 1 person in January (1 year), 1 person in February (6 years), 1 person in March (7 years), 3 people in April ( 7 months, 4 years and 2 years), 2 people in August 2008 (7 months and 11 years). Enlarged abdomen with bloating, repeated constipation and sometimes aborted. Withdrawal procedures that work with endorectal withdrawal procedures, all show long results Keywords: duhamel technique, hirschsprung's disease, constipation, infant   Abstrak— Diagnosis penyakit  Hirschprung  dibuat dengan barium enema dan full-thickness rectal biopsy. Duhamel procedure telah dilakukan pada 8 kasus pada tahun 2008 untuk kasus Hirschsprung's disease. Rentang usia penderita 7 bulan hingga 11 tahun. Berat badan rata – rata saat dioperasi 7 – 21 kg. Morbiditas dan mortalitas setelah operasi tidak dilaporkan. Anorectal myectomy dengan low anterior resection, Duhamel-Martin procedure, dan Soave endorectal pull-through procedure adalah metode yang paling dapat diterima untuk penatalaksanaan bedah. Didapatkan Kasus penyakit Hirschsprung's  yang berobat  di Rumah Sakit Syaiful Anwar Malang selama tahun 2008 dengan data sebagai berikut yaitu 1 orang  di Januari (1 tahun) , 1 orang di Februari (6 tahun), 1 orang Maret (7 bulan), 3 orang April (7 bulan, 4 tahun dan 2 tahun), 2 orang Agustus 2008 (7 bulan dan 11 tahun). Tiap penderita mengalami riwayat abdominal  distention dengan gejala perut kembung berulang, konstipasi dan kadang –kadang disertai mual. Delapan penderita yang menjalani operasi dengan prosedur endorectal pullthrough , semuanya menunjukkan hasil jangka panjang yang memuaskan. Kata kunci: tehnik duhamel, penyakit hirschsprung's , konstipasi, infant


2021 ◽  
Vol 14 (6) ◽  
pp. e240209
Author(s):  
Maureen Elvira Padernal Villanueva ◽  
Marc Paul Jose Lopez ◽  
Mark Augustine S Onglao

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. A full thickness rectal biopsy was positive for ganglion cells. Further workup led to the diagnosis of chronic IMC and IMR. The patient underwent laparoscopic modified Duhamel procedure, with an uneventful postoperative course.


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