A case is presented of Churg-Strauss syndrome in a young man in whom the definitive diagnostic procedure was a full thickness sigmoidoscopic rectal biopsy, with submucosal sampling. [ncbi.nlm.nih.gov]

• Subcutaneous Mass

  Subsequent histologic study of mediastinal and subcutaneous masses established the diagnosis of multicentric infantile myofibromatosis. The patient died at 16 wk of age with tumor nodules in several visceral and parietal structures. [ncbi.nlm.nih.gov]

• Dystonia

  The proband, aged 38, had slowly progressive extrapyramidal signs with prominent dystonia, starting at about age 19. [ncbi.nlm.nih.gov]

• Dysarthria

  The patient was a 22-year-old female who exhibited dysarthria, gait disturbance, and generalized dystonia with rigidity. Beta-galactosidase activity in leukocytes was absent and sialidase activity in cultured fibroblasts was normal. [ncbi.nlm.nih.gov]

• Loss of Gait

  A 21-month-old boy with a family history of parental consanguinity and two siblings having died of a progressive neurological disorder was investigated for a neurometabolic disease because of recent loss of gait and lack of intellectual progress. [ncbi.nlm.nih.gov]

• Tantrums

  Both patients had a history of behavioral problems marked by frequent temper tantrums. Both had nondiagnostic magnetic resonance imaging of the head and metabolic work-ups. [ncbi.nlm.nih.gov]

• Encephalopathy

  This case, showing features of both mitochondrial neurogastrointestinal encephalomyopathy and mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), indicates that routine intestinal biopsy can detect mitochondrial [ncbi.nlm.nih.gov]

We recommend a barium enema as a routine initial workup in the management of patients of suspected Hirschsprung’s disease. [scopemed.org]

This case specifically demonstrates the utility of a full thickness rectal biopsy to provide the diagnosis when extensive diagnostic workup and therapeutic trials had failed. [ghrnet.org]

• Cerebrospinal Fluid Abnormality

  The ultrastructure of rectal biopsy specimens from a 60-year-old woman of unusual familial ataxia with cerebrospinal fluid abnormality was investigated. She had two male siblings similarly affected and a close consanguinity in the family. [ncbi.nlm.nih.gov]

• Lymphocytic Infiltrate

  Distorted crypt architecture, crypt atrophy, basal lymphoid aggregates and dense lymphocytic infiltrates each emerged as features with a 76 to 86 per cent probability of predicting idiopathic inflammatory bowel disease, but their discriminant value was [ncbi.nlm.nih.gov]

• Visceromegaly

  Abstract Type III GM1-gangliosidosis is a rare hereditary storage disease caused by lack of lysosomal beta-galactosidase and characterized by a slowly progressive course, and extrapyramidal signs, but without prominent skeletal changes or visceromegaly [ncbi.nlm.nih.gov]

In conclusion, computerised morphometry is valuable for the assessment of the treatment of patients with ulcerative colitis and that in the doses used both treatments were of similar efficacy. [ncbi.nlm.nih.gov]

Therefore, an earlier accurate diagnosis of macroscopic and microscopic features using an appropriate modality improves the prognosis of patients with suspected GI-GVHD. [ncbi.nlm.nih.gov]

This approach also serves as a sensitive test to predict the prognosis when rare CFTR mutations are not identified by standard screening tests [ 12, 14, 16 ]. [bmcgastroenterol.biomedcentral.com]

Prognosis of node–positive colorectal cancer. Cancer 1991; 67: 1859–61. [ Links ] 3. Malassagne B, Valleur P, Serra J, et al. Relationship of apycal node involvement to survival in resected colon carcinoma. [scielo.org.mx]

"Hirschsprung's disease in cartilage-hair hypoplasia has poor prognosis". J Pediatr Surg. 37 (11): 1585–8. doi : 10.1053/jpsu.2002.36189. [en.wikipedia.org]

We identified two patients: an 11-year-old boy (P1) with new-onset bulbar weakness and parkinsonism and a 15-year-old boy (P2) with severe cognitive and motor deterioration of uncertain etiology who presented at 4 years of age with a gait disturbance [ncbi.nlm.nih.gov]

Etiological considerations and surgical management in 22 cases. Arch Surg, 1978; 113:159-163 431. ‎ Pagina 311 - Kosloske AM, Martin LW, Schubert WK. Management of chylothorax in children by thoracentesis and medium-chain triglyceride feedings. [books.google.ro]

Diagnostic paracentesis showed a normal cell count and a serum ascites albumin gradient of 0.6, consistent with a non-portal hypertensive etiology. Cultures were negative including acid-fast bacilli. [ghrnet.org]

While the etiology remains controversial, it is thought to be associated with stasis caused by the functional obstruction, resulting in bacterial overgrowth with secondary infection. [sages.org]

immunohistochemical staining, and polymerase chain reaction assays demonstrate the presence of lymph node micrometastases in a significant proportion of patients whose nodes are negative by routine hematoxylin and eosin staining. 4– 6 Although the etiology [scielo.org.mx]

"An epidemiological study of Hirschsprung's disease". Int J Epidemiol. 13 (4): 479–85. doi : 10.1093/ije/13.4.479. PMID 6240474. Suita S, Taguchi T, Ieiri S, Nakatsuji T (2005). [en.wikipedia.org]

The epidemiology of gastroenteropancreatic neuroendocrine tumors. Endocrinol Metab Clin N Am. 2011;40:1-18. [ Links ] 7. Moore JR, Greenwell B, Nuckolls K, Schammel D, Schisler N, Schammel C, et al. [scielo.mec.pt]

Epidemiology Hirschsprung disease occurs at an approximate rate of 1 case per 5400-7200 newborns in the United States. [sages.org]

A 6 Epidemiology The cause of Hirschsprung’s disease is multifactorial, and the disease can be familial or develop spontaneously. 2 It is more common in boys than girls. 1 Approximately 3 to 5 percent of male siblings and 1 percent of female siblings [aafp.org]

Gastrointestinal Disease: Pathophysiology, Diagnosis, Management. Philadelphia: W. B. Saunders Company, 1973, p. 1375. 5. Tuinor, J. A., et al. Amebiasis - A symposium, Calif. Med. 114 (1971), 44. 6. Helper, M-, and Ament, M. E. [healio.com]

Pathophysiology Hirschsprung disease is characterized by congenital aganglionosis of the distal bowel. The aganglionosis always involves the anus and extends proximally for a variable distance. [sages.org]

"Hirschsprung Disease: Background, Pathophysiology, Epidemiology". 2017-01-08. synd/1163 at Who Named It? Hirschsprung, H. (1888). "Stuhlträgheit Neugeborener in Folge von Dilatation und Hypertrophie des Colons". [en.wikipedia.org]

In: Sleisenger & Fordtran’s Gastrointestinal and Liver Disease: Pathophysiology, Diagnosis, Management. 7th ed. Philadelphia, Pa.: Saunders, 2002:2131–5. 4. Stewart DR, von Allmen D. The genetics of Hirschsprung disease. [aafp.org]

Rectal and colonic biopsies in 3 revealed granulomas and focal colitis supportive of the diagnosis of Crohn's disease and prevented laparotomy. [ncbi.nlm.nih.gov]

Doherty Lippincott Williams & Wilkins, 2006 - 826 من الصفحات This volume offers authoritative, evidence-based recommendations for preventing and managing complications in all current general surgery procedures. [books.google.com]

Precise suction providing a consistent specimen each procedure The specimen is captured in the front of the capsule after each biopsy No need for blade sharpening or capsule maintenance avoiding biopsy procedure failure No user contact with the blade preventing [medicalsearch.com.au]

The presence of diarrheal stool does not prevent adequate examination, as it can often be suctioned out or wiped away with cotton swabs. [healio.com]