scholarly journals Immunohistochemistry-based comparative study in detection of Hirschsprung’s disease in infants in a Tertiary Care Center

2017 ◽  
Vol 9 (02) ◽  
pp. 076-080 ◽  
Author(s):  
Bedabrata Mukhopadhyay ◽  
Moumita Sengupta ◽  
Chhanda Das ◽  
Madhumita Mukhopadhyay ◽  
Shibsankar Barman ◽  
...  
Keyword(s):  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Ganglion Cells ◽  
Care Center ◽  
Tertiary Care ◽  
Nerve Fibers ◽  
Presenting Symptoms ◽  
Male Preponderance ◽  
Indispensable Tool ◽  
Sensitivity Specificity

Abstract BACKGROUND: Hirschsprung’s disease (HD) is the major cause of pediatric intestinal obstruction with a complex pattern of inheritance. The absence of ganglion cells along with an analysis of hypertrophy and hyperplasia of nerves in the nerve plexus of submucosa and muscularis mucosae is regarded as a potential hallmark for its diagnosis. AIMS AND OBJECTIVES: This study was undertaken to ascertain the (1) clinical profile, (2) mode of presentation, and (3) to compare the role of calretinin immunostaining with acetylcholinesterase in the diagnosis of HD. MATERIALS AND METHODS: This prospective and observational study was conducted in the Department of Pathology, IPGME & R from June 2014 to May 2015. One hundred and four patients clinically and radiologically diagnosed with HD underwent surgery were included in the study. The data of every patient including age, sex, and presenting symptoms were recorded. Eventually, histopathological, calretinin, and acetylcholinesterase immunohistochemical examination were done. RESULTS: Total numbers of cases studied were 104, which aged between 0 days and 365 days. Male preponderance (76.92%) was noted. The overall sensitivity, specificity, positive, and negative predictive value of acetylcholinesterase were 100%, 86.44%, 84.91%, and 100%, respectively. The concordance of detection of ganglion cells and nerve fibers, and thereby diagnosis of Hirschsprung’s and non-HD using calretinin and the gold standard was statistically in strong agreement (κ = 0.749, 95% confidence interval: 0.635–0.863). CONCLUSIONS: Calretinin stands out as the single and indispensable tool that differentiates HD from other mimickers.

scholarly journals Clinicopathological Characteristics of Hirschsprung’s Disease With Emphasis on Diagnosis and Management: A Single-Center Study in the Kingdom of Saudi Arabia

2019 ◽  
Vol 6 ◽  
pp. 2333794X1984886
Author(s):  
Abdulaziz Howsawi ◽  
Hanaa Bamefleh ◽  
Saud Al Jadaan ◽  
Stanley Crankson ◽  
Rakan Alkhilaiwi ◽  
...  
Keyword(s):  
Saudi Arabia ◽  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Neonatal Period ◽  
Ganglion Cells ◽  
Care Center ◽  
Tertiary Care ◽  
Motor Disorder ◽  
Permanent Section ◽  
Pull Through

Introduction: Hirschsprung’s Disease (HD) is a motor disorder of the gut caused by the failure of neural crest cells to migrate craniocaudally into the bowel during intestinal development, resulting in a functional obstruction. The majority of patients with HD are diagnosed in the neonatal period when they present with symptoms of distal intestinal obstruction. Aim: This study aims to identify the clinic-pathological characteristic of HD patients in our institution in KSA and comparing it with local and international data. Materials and Methods: This retrospective cohort study was conducted in King Abdulaziz Medical City (KAMC), a tertiary care center in Riyadh, Kingdome of Saudi Arabia (KSA). Results: A total of 54 patients (72% male) were diagnosed with HD. Forty-eight patients (89%) were born at term, and 6 were pre-term. Sixty-three percent of the patients presented in the neonatal period. Twenty-two patients (41%) underwent one-stage endorectal pull-through procedure, 23 patients (43%) two-stage endorectal pull-through, and 9 patients (16%) had three-stage endorectal pull-through. Five out of 54 patients had ganglion cells seen on FS but were absent in the permanent section. Therefore, the concordance rate was 90.8%. Conclusion: FS biopsy is a necessary method to determine the level of aganglionosis intraoperatively in HD, but the definitive diagnosis should be with permanent section. Also, the choice of surgical operation type (single-stage or multi-stage pull-through) depends on the patient’s clinical condition.

The outcome of single-stage management of Hirschsprung's disease at a tertiary care center

2020 ◽  
Vol 10 (1) ◽  
pp. 17
Author(s):  
Zaheer Hasan ◽  
VinitKumar Thakur ◽  
Digamber Chaubey ◽  
Ramdhani Yadav ◽  
Ramjee Prasad ◽  
...  
Keyword(s):  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Care Center ◽  
Tertiary Care ◽  
Single Stage ◽  
Tertiary Care Center ◽  
Stage Management

scholarly journals A prospective observational study of associated anomalies in hirschsprung’s disease

2019 ◽  
Vol 7 (1) ◽  
pp. 112
Author(s):  
Monali Madhukar Patole ◽  
Mandar Madhukar Patole ◽  
Subhasish Paul
Keyword(s):  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Ganglion Cells ◽  
Heart Diseases ◽  
Genetic Disorders ◽  
Tertiary Care ◽  
Standards Of Care ◽  
Associated Anomalies ◽  
Variable Expression ◽  
Medical College

Background: Hirschsprung’s Disease (HSCR) is the commonest congenital gut motility disorder and is characterized by the absence of ganglion cells in a variable length of the distal gut. According to literature , HRSCD may be associated with a chromosomal abnormality or other congenital anomalies in approximately 20% of cases HSCR appeared to be a multifactorial malformation with low, sex dependent penetrance and variable expression according to the length of the a ganglionic segment, suggesting the involvement of one or more gene (s) with low penetrance. So far, eight genes have been found to be involved in HSCR. This frequent congenital malformation now stands as a model for genetic disorders with complex patterns of inheritance. The objective of this study was to collect and study personal and family history and any information regarding known associated anomalies in patients diagnosed as Hirschsprung's disease.Methods: Here author present a series of 89 consecutive HSCR patients who were admitted or attended the Pediatric Surgery OPD of in a tertiary care Government medical college, who were evaluated for associated malformations with the help of available non-invasive investigation.Results: Congenital heart diseases and Down’s syndrome were the two most common associated anomalies. Genitourinary anomalies, Limb anomalies and central nervous system anomalies were other associated anomalies. Conclusions: This study confirmed the underestimation of certain associated anomalies in Hirschsprung patients, such as CNS anomalies. Based on the results of this study, in addition to meticulous general examination author suggest performing cardiologic assessment in patients diagnosed with Hirschsprung’s disease based on clinical features and according to the standards of care adopted for the general population.

Calretinin Expression in Hirschsprung’s Disease – A Potential Marker of Ganglion Cells

2017 ◽  
Vol 11 (3) ◽  
pp. 181-186
Author(s):  
Mishal Sikandar ◽  
Abdul Hannan Nagi ◽  
Komal Sikandar ◽  
Nadia Naseem ◽  
Ihtisham Qureshi
Keyword(s):  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Ganglion Cells ◽  
Potential Marker

scholarly journals RFC1 AAGGG repeat expansion masquerading as Chronic Idiopathic Axonal Polyneuropathy

2021 ◽  
Author(s):  
Matteo Tagliapietra ◽  
Davide Cardellini ◽  
Moreno Ferrarini ◽  
Silvia Testi ◽  
Sergio Ferrari ◽  
...  
Keyword(s):  
Care Center ◽  
Axonal Neuropathy ◽  
Tertiary Care ◽  
Sensory Neuropathy ◽  
Nerve Fibers ◽  
Repeat Expansion ◽  
Sural Nerve Biopsy ◽  
Prevalence Odds Ratio ◽  
Axonal Polyneuropathy ◽  
Factor C

Abstract Background A biallelic intronic AAGGG repeat expansion in the Replication Factor C subunit 1 (RFC1) gene has been recently associated with Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome, a disorder often presenting as a slowly evolving sensory neuropathy at the onset. “Chronic Idiopathic Axonal Polyneuropathy” (CIAP) is a common indolent axonal neuropathy of adulthood which remains without an identifiable cause despite thorough investigations. Methods We screened 234 probands diagnosed with CIAP for a pathogenic biallelic RFC1 AAGGG repeat expansion. Patients were selected from 594 consecutive patients with neuropathy referred to our tertiary-care center for a sural nerve biopsy over 10 years. Results The RFC1 AAGGG repeat expansion was common in patients with pure sensory neuropathy (21/40, 53%) and less frequent in cases with predominantly sensory (10/56, 18%, P < 0.001) or sensorimotor (3/138, 2%, P < 0.001) neuropathy. The mutation was associated with sensory ataxia (τb = 0.254, P < 0.001), autonomic disturbances (35% vs 8%, Prevalence Odds Ratio—POR 6.73 CI 95% 2.79–16.2, P < 0.001), retained deep tendon reflexes (score 18.0/24 vs 11.5/24, R = 0.275, P < 0.001). On pathology, we observed absent/scant regenerative changes (τb = − 0.362, P < 0.001), concomitant involvement of large (100% and 99%, n.s.), small myelinated (97% vs 81%, POR 7.74 CI 95% 1.03–58.4, P = 0.02) and unmyelinated nerve fibers (85% vs 41%, POR 8.52 CI 95% 3.17–22.9, P < 0.001). Cerebellar or vestibular involvement was similarly rare in the two groups. Conclusions This study highlights the frequent occurrence of the RFC1 AAGGG repeat expansion in patients diagnosed with CIAP and characterizes the clinical and pathological features of the related neuro(no)pathy.

Unexpected Death From Enterocolitis After Surgery for Hirschsprung's Disease

PEDIATRICS ◽  
1995 ◽  
Vol 96 (1) ◽  
pp. 118-121
Author(s):  
Terri L. Marty ◽  
Michael E. Matlak ◽  
Margo Hendrickson ◽  
Richard E. Black ◽  
Dale G. Johnson
Keyword(s):  
Parent Education ◽  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Unexpected Death ◽  
Presenting Symptoms ◽  
Physician Awareness

Unanticipated death from enterocolitis occurred in five children 3 weeks to 20 months after uncomplicated reconstruction for Hirschsprung's disease. In each case the presenting symptoms of enterocolitis were mild and were misinterpreted by examining physicians. Within 2 to 12 days of onset of symptoms, unexpected death occurred. Although fatal enterocolitis is a well-known complication of Hirschsprung's disease, emphasis is usually placed on preoperative enterocolitis. Fatal postoperative enterocolitis is not a new entity associated with Hirschsprung's disease, but physician awareness of this possibility is obviously deficient. We strongly recommend extensive parent education and better postoperative communication between the surgeon and the referring physician.

scholarly journals Juvenile dermatomyositis in Thai children: Retrospective review of 30 cases from a tertiary care center

2021 ◽  
Vol 0 ◽  
pp. 1-9
Author(s):  
Rattanavalai Nitiyarom ◽  
Sirirat Charuvanij ◽  
Surachai Likasitwattanakul ◽  
Chaiwat Thanoophunchai ◽  
Wanee Wisuthsarewong
Keyword(s):  
Juvenile Dermatomyositis ◽  
Care Center ◽  
Tertiary Care ◽  
Inflammatory Myopathy ◽  
Clinical Manifestations ◽  
Multicenter Studies ◽  
Extraskeletal Osteosarcoma ◽  
Calcinosis Cutis ◽  
Tertiary Referral Center ◽  
Presenting Symptoms

Background: Juvenile dermatomyositis is a rare condition, but it is the most common idiopathic inflammatory myopathy in pediatric patients. Aim: To study the clinical manifestations, investigations, treatment, clinical course, and outcomes of juvenile dermatomyositis in Thai children. Method: This retrospective study included juvenile dermatomyositis patients treated at Siriraj Hospital, a 2,300-bed national tertiary referral center in Bangkok, Thailand, from 1994 to 2019. Results: Thirty patients (22 females and 8 males) were included with a female to male ratio of 2.7:1. Median age at diagnosis was 5.1 years (range, 2.6-14.8 years). Median duration of illness before diagnosis was 6.5 months (range, 0.3-84.0 months). Acute and subacute onset occurred in the majority of patients. Presenting symptoms included muscle weakness in 27/30 (90%), skin rash in 26/30 (86.7%), muscle pain in 17/26 (65.4%), and arthralgia in 4/18 (22.2%) of patients. Dermatologic examination revealed Gottron’s rash, heliotrope rash, and periungual telangiectasia in 25/30 (83.3%), 21/30 (70.0%), and 15/24 (62.5%) of patients, respectively. Interestingly, scalp dermatitis was found in 8/21 (38.1%) of patients. The most commonly used treatment regimen in this series was a combination of prednisolone and methotrexate. During the median follow-up of 3.1 years (range, 0.0-18.5 years), only one-third of patients were seen to have monocyclic disease. Extraskeletal osteosarcoma at a previous lesion of calcinosis cutis was observed in one patient at 12 years after juvenile dermatomyositis onset. Limitations: This was a retrospective single-center study, and our results may not be generalizable to other healthcare settings. Prospective multicenter studies are needed to confirm the findings of this study. Conclusion: juvenile dermatomyositis usually poses a diagnostic and therapeutic challenge, which can be compounded by the ethnic variations in the clinical presentation, as observed in this study. Asian patients tend to present with acute or subacute onset of disease, and arthralgia and/or arthritis are less common than in Caucasian patients. Scalp dermatitis is not uncommon in pediatric juvenile dermatomyositis patients. An association between juvenile dermatomyositis and malignancy, though rare, can occur.

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