scholarly journals A Novel 9-Base Pair Duplication in RET Exon 8 in Familial Medullary Thyroid Carcinoma1

1999 ◽  
Vol 84 (5) ◽  
pp. 1700-1704
Author(s):  
Pascal Pigny ◽  
Catherine Bauters ◽  
Jean-Louis Wemeau ◽  
Martine Lecomte Houcke ◽  
Michel Crepin ◽  
...  
Keyword(s):  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Point Mutations ◽  
Cysteine Residue ◽  
Loss Of Function ◽  
New Mutation ◽  
Medullary Thyroid ◽  
Rich Domain ◽  
History Of ◽  
Additional Cysteine Residue

Familial medullary thyroid carcinoma (FMTC) and multiple endocrine neoplasia type 2A syndromes are dominantly inherited diseases caused by activating germline mutations of the RET protooncogene. The majority of these patients carry a germline point mutation affecting one of five cysteine residues encoded by exon 10 (codon 609, 611, 618, or 620) or 11 (codon 634). In a few FMTC families, point mutations involving noncysteine codons in exon 13 (codons 768, 790, and 791), 14 (codon 804), or 15 (codon 891) have been reported. Hirschsprung’s disease is a nonneoplastic disorder associated with RET mutations leading to a loss of function effect. Mutations are identified in 50% of the familial cases and are scattered along the gene. We now report the study of a FMTC family with four affected members and a history of fatal neonatal intestinal obstruction in the sister of the proband. Genetic analysis demonstrated the absence of an usual FMTC mutation and the presence of a germline 9-bp duplication in RET exon 8 in the heterozygous state in all patients with MTC. This new mutation creates an additional cysteine residue in the extracellular cysteine-rich domain of RET. Further studies are warranted to confirm whether this new mutation is causing MTC only or could be associated with Hirschsprung’s disease.

scholarly journals RISK FACTORS INFLUENCING ENTEROCOLITIS DEVELOPMENT IN PEDIATRIC PATIENTS WITH HIRSCHSPRUNG’S DISEASE

2020 ◽  
Vol 8 (3) ◽  
pp. 218
Author(s):  
Andro Pramana Witarto ◽  
Alpha Fardah Athiyyah ◽  
I.G.B. Adria Hariastawa ◽  
I Gusti Made Reza Gunadi Ranuh
Keyword(s):  
Risk Factors ◽  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Secondary Data ◽  
Prevalence Ratio ◽  
Cross Sectional Study ◽  
Cross Sectional ◽  
Significance Level ◽  
Potential Risk Factors ◽  
History Of

Background: Hirschsprung-associated enterocolitis (HAEC) is one of the worst and most common complications of Hirschsprung’s disease (HD). The mortality rate of HD patients with enterocolitis is still considered to be higher compared to that of those without enterocolitis. Purpose: This study aimed to identify and evaluate potential risk factors for HAEC development. Methods: A cross-sectional study was conducted using secondary data from the medical records of HD patients treated from January 2015 to September 2018 at Regional Public Hospital (RSUD) Dr. Soetomo, Surabaya. The inclusion criteria were HD patients who had or had not experienced enterocolitis. The analysis was done by comparing the presence of risk factors between groups of HD patients with and without preoperative and/or postoperative HAEC. The results were presented as the median value and frequency. To evaluate further, a prevalence ratio (PR) with a 95% confidence interval was performed. The Mann–Whitney U test was also performed with a significance level of p < 0.05 for one factor: length of aganglionic intestinal segments. Results: This study showed that 12 of the 40 HD patients studied (30%) had experienced enterocolitis. The risk of developing HAEC was associated with patients who had a history of previous enterocolitis (PR 6.60 [2.94 < PR < 14.80]). Regarding surgical details, patients who had had surgery only once (31.30% compared to 14.30%), surgery with one surgical method (29.40% compared to 20.00%), and a primary procedure had a higher incidence of HAEC (29.40% compared to 27.30%). Conclusion: HD patients with a history of previous enterocolitis were found to have a higher risk of developing HAEC.

scholarly journals A Case Report on 2 years Child: Hirschprung’s Disease

2021 ◽  
pp. 558-564
Author(s):  
Anushri Kale ◽  
Aditi Badwaik ◽  
Pallavi Dhulse ◽  
Archana Maurya ◽  
Bibin Kurian
Keyword(s):  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Ganglion Cells ◽  
Past History ◽  
Rectal Biopsy ◽  
Case Presentation ◽  
Surgical History ◽  
History Of ◽  
Pull Through ◽  
Hirschprung's Disease

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.

Rectal Biopsy as an Aid in the Diagnosis of Hirschsprung's Disease

PEDIATRICS ◽  
1956 ◽  
Vol 18 (2) ◽  
pp. 176-176
Keyword(s):  
Chronic Constipation ◽  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Rectal Wall ◽  
Rectal Biopsy ◽  
Distal Segment ◽  
Large Bowel Obstruction ◽  
Atypical Symptoms ◽  
Typical History ◽  
History Of

The child with a typical history of chronic constipation, and with physical signs of a distended abdomen and an empty rectal ampulla, who is found to have a widely dilated colon with a narrow distal segment by the radiologist, presents no diagnostic problem. However, the diagnosis of Hirschsprung's disease may be very difficult to establish if part of the classical diagnostic criteria are absent or inconclusive. In such cases, the authors have found rectal biopsy to be a useful diagnostic procedure. They cite as indications for biopsy: (1) suspected Hirschsprung's disease in the newborn infant, because the colon does not become dilated and hypertrophied until the intestinal tract has been functioning for several months; (2) symptoms of upper large bowel obstruction developing soon after birth, because barium enema studies of infants whose entire colons are aganglionic reveal no obstruction of the lumen of the large intestine; (3) radiologic evidence of dilatation of the entire distal segment of the colon, because, in patients with a short aganglionic lesion, the obstruction may be so low that the radiologist is unable to demonstrate a narrow segment extending through the rectosigmoid, and (4) atypical symptoms of megacolon, including diarrhea, episodes of intestinal obstruction, or other symptoms of colonic dysfunction. This procedure has been performed by Swenson and his colleagues on 40 patients. Biopsy specimens obtained from 19 patients, subsequently proved to have Hirschsprung's disease by study of the resected rectum and sigmoid, contained no ganglionic cells. In the other 21 patients, biopsy was performed because Hirschsprung's disease was suspected. Ganglionic cells were present in all of these specimens, and the success of subsequent conservative management of these patients confirmed the diagnosis of chronic constipation. Control material was obtained from 10 cadavers with normal colons, and ganglionic cells were found in all of these specimens. The authors emphasize that this technique is only as good as the specimen obtained. An adequate biopsy of rectal wall must be removed. Multiple histologic sections must be carefully examined before the diagnosis of Hirschsprung's disease is confirmed.

TREATMENT OF CONGENITAL MEGACOLON IN 50 INFANTS

PEDIATRICS ◽  
1966 ◽  
Vol 38 (2) ◽  
pp. 185-193
Author(s):  
Walton K. T. Shim ◽  
Orvar Swenson
Keyword(s):  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Average Weight ◽  
Older Children ◽  
The Past ◽  
History Of ◽  
Pull Through ◽  
Definitive Surgery ◽  
Criteria For Selection ◽  
Selection Of

Fifty infants less than 1 year old with Hirschsprung's disease were treated at Children's Memorial Hospital in the past 6 years. Thirty-two of the 35 barium enema studies yielded "diagnostic" roentgenographic studies, and 3 were "negative" for Hirschsprung's disease. Fourteen of the 50 infants had a history of diarrhea. Enterocolitis in infants may be extremely rapid in onset and progression. It should be vigorously treated with rectal irrigations and intravenous fluids. Nineteen patients (38%) had aganglionic segments extending above the rectosigmoid colon, and eight (16%) were aganglionic proximal to the splenic flexure. This includes three patients with aganglionosis of the entire colon and one that was aganglionic from the jejunum to anus. Emphasis is placed on an aggressive combined attack by pediatrician, radiologist, pathologist, and surgeon to diagnose and prepare the sick infant as early as possible for colostomy or definitive abdominal-perineal pull-through operation. Twelve infants with an average weight of 12.5 lb were operated on primarily with no deaths or complications. It is our belief that definitive surgery can be done with greater ease in an infant than in older children, but careful selection and preparation of the patient and meticulous operative technique must be exercised. The important criteria for selection of infants for immediate resection are the absence of emaciation and enterocolitis, although the infant may be small. Twenty-six infants had colostomy and resection with no deaths or complications. Our raw mortality figures show 10 deaths in 50 patients (20%). There were 7 deaths in 47 surgical patients (15%).

Molecular analysis of the RET proto-oncogene in patients with sporadic medullary thyroid carcinoma: a novel point mutation in the extracellular cysteine-rich domain

1997 ◽  
Vol 136 (4) ◽  
pp. 423-426 ◽  
Author(s):  
Maria João Bugalho ◽  
João Pedro Frade ◽  
Jorge Rosa Santos ◽  
Edward Limbert ◽  
Luis Sobrinho
Keyword(s):  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Point Mutation ◽  
De Novo ◽  
Point Mutations ◽  
The Other ◽  
Missense Mutations ◽  
Sporadic Medullary Thyroid Carcinoma ◽  
Medullary Thyroid ◽  
Rich Domain

Abstract Germline point mutations in the RET proto-oncogene are associated with multiple endocrine neoplasia type 2 (2A and 2B) and familial medullary thyroid carcinoma. On the other hand, somatic point mutations of RET have been described in a subset of sporadic medullary thyroid carcinomas (MTCs). We examined tumor and blood DNA of thirteen apparently sporadic MTC patients for mutations in RET exons 10, 11, 13, 15 and 16 to determine whether they had true sporadic tumors or either de novo or occult germline mutations. Three different somatic missense mutations were documented in seven patients. In five patients a mutation in exon 16, codon 918, (ATG→ACG) causing a Met→Thr substitution was found. In the remaining two patients the mutation affected exon 11: codon 630 in one case and codon 634 in the other. In both cases a T→C transversion was identified causing a Cys→Arg substitution. In conclusion, absence of a germline mutation in RETexons 10, 11, 13 or 16 is evidence against an inherited form in all cases. In seven patients, identification of a somatic mutation supported the previous clinical diagnosis of sporadic medullary thyroid carcinoma; in one of them we identified a hitherto undescribed somatic point mutation at codon 630. European Journal of Endocrinology 136 42 3–426

scholarly journals An Extended Family with Familial Medullary Thyroid Carcinoma and Hirschsprung's Disease

2014 ◽  
Vol 81 (2) ◽  
pp. 64-69 ◽  
Author(s):  
Takehito Igarashi ◽  
Ritsuko Okamura ◽  
Tomoo Jikuzono ◽  
Shinya Uchino ◽  
Iwao Sugitani ◽  
...  
Keyword(s):  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Extended Family ◽  
Medullary Thyroid ◽  
Familial Medullary Thyroid Carcinoma
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