Authors present two casas of familial metaphyseal dysplasia which was first described by Pyle as a skeletal disorder affecting the metaphyseal region of tubular bones. The cases reported here bear some resemblance to that of Bawkin and Krida.

Heterotopic panereas is pancreactie tissue occuring outside its normal anatomical location and without any connection and normal pancreas and it is a developmental anormaly. The most commen site is stomach(esp. greater curvature of the antrum), duodenum and jejunum, In majority of cases heterotopic pancreas does not produce symptoms. When it produces complications, the symptoms depend on the site of lesion and the size of mass. Pathologically, the heterotopic pancreatic tissue is subject to all the lesions found in the normally placed pancreas. Tbe smooth broad base intramural defect with central niche ie typical radiologic fiadings of heterotoPic pancreas. Gastrofiberscopy revealed a small round, submucosal projection with a central umblication. The lesions are frequently confused with polys, lymphoma, in.tramural neoplasm and gastric uleer. Accurate diagnosis may prevent needless surgical procedures. Three cases of heterotopic pancreas of stomach were reported and the pertinent literature were reviewed briefly.
Diagnosis ; Duodenum ; Jejunum ; Lymphoma ; Pancreas* ; Stomach*

No abstract available.
Thyroid Gland*

Two common gastrointestinal cancers, namely, gastric and colorectal cancers, cause high mortality and morbidity. The development of gastrointestinal cancers usually follows stepwise processes with recognizable pre-neoplastic changes. A class of noncoding RNA known as microRNA (miRNA) is increasingly recognized to play pleiotropic functions in the multistep development of gastrointestinal cancers. Abnormal patterns of miRNA expression in gastric and colorectal cancers have been widely reported. These dysregulated miRNAs function as novel proto-oncogenes and tumor-suppressor genes by controlling cellular malignant phenotypes, including unchecked cell proliferation, resistance to apoptosis, enhanced invasiveness and metastasis, and angiogenesis. Moreover, certain polymorphisms in miRNA genes or miRNA-binding sites are associated with disease risks whereas detection of circulating or fecal miRNAs may facilitate early diagnosis. The prognostic functions of a number of dysregulated miRNAs in gastrointestinal cancers have also been established. Delineating the pathophysiological basis of miRNA dysregulation will further our understanding of the pathogenesis of these two potentially fatal diseases. Such efforts will also result in the development of miRNA-based biomarkers and therapeutics for the risk stratification, diagnosis, prognostication, and treatment of gastrointestinal cancers.
Apoptosis ; Biomarkers ; Cell Proliferation ; Colorectal Neoplasms ; Early Diagnosis ; Gastrointestinal Neoplasms ; MicroRNAs ; Neoplasm Metastasis ; Phenotype ; Prognosis ; Proto-Oncogenes ; RNA, Untranslated ; Stomach Neoplasms

Artificial intelligence (AI) is coming to medicine in a big wave. From making diagnosis in various medical conditions, following the latest advancements in scientific literature, suggesting appropriate therapies, to predicting prognosis and outcome of diseases and conditions, AI is offering unprecedented possibilities to improve care for patients. Gastroenterology is a field that AI can make a significant impact. This is partly because the diagnosis of gastrointestinal conditions relies a lot on image-based investigations and procedures (endoscopy and radiology). AI-assisted image analysis can make accurate assessment and provide more information than conventional analysis. AI integration of genomic, epigenetic, and metagenomic data may offer new classifications of gastrointestinal cancers and suggest optimal personalized treatments. In managing relapsing and remitting diseases such as inflammatory bowel disease, irritable bowel syndrome, and peptic ulcer bleeding, convoluted neural network may formulate models to predict disease outcome, enhancing treatment efficacy. AI and surgical robots can also assist surgeons in conducting gastrointestinal operations. While the advancement and new opportunities are exciting, the responsibility and liability issues of AI-assisted diagnosis and management need much deliberations.

Systemic lupus erythematosus, an autoimmune disease with multisystem involvement, has been reported to be associated with a number of gastrointestinal complications and symptoms such as nausea, vomiting, and abdominal pain. However, acute pancreatitis only rarely has been reported as a complication of SLE. We report a case of SLE presenting drug unrelated acute pancreatitis as a initial manifestation.
Abdominal Pain ; Autoimmune Diseases ; Lupus Erythematosus, Systemic* ; Nausea ; Pancreatitis* ; Vomiting

Inactivation or loss of suppressor genes on a specific chromosome plays an important role in the development and progression of cancer. Recent studies have shown that p53 gene acts as a tumor suppressor gene and that its mutation appears to be related to the aggressiveness of transitional cell carcinoma of the bladder. To investigate the significance of p53 gene mutations in transitional cell carcinoma of the renal pelvis (renal pelvis tumor), 28 tumors with various stages and grades were examined for p53 gene mutations in exon regions 5 to 8 using polymerase chain reaction single-strand conformation polymorphism analysis. Seven (25%) of 28 pelvis tumors were found to have p53 gene mutations. Three of 12 superficial tumors including pTis, pTa, and pT1 were found to have p53 gene mutations. And only four of 16 invasive tumors with pT2, pT3, and pT4 were found to have p53 mutations. In the respect of tumor grade, p53 gene mutation was found in four of the 14 tumors with grade I and II, while three of 14 tumors with grade III, and IV were found to have p53 gene mutations. These observations suggest that, in contrast to bladder cancer, the incidence of p53 gene mutations does not related to the tumor stages and grades in transitional cell carcinoma of the renal pelvis. These results further indicate that p53 gene mutation may not represent a genetic marker of malignant potentials in transitional cell carcinoma of the renal pelvis.
Carcinoma, Transitional Cell* ; Exons ; Genes, p53* ; Genes, Suppressor ; Genes, Tumor Suppressor ; Genetic Markers ; Incidence ; Kidney Pelvis* ; Pelvis ; Polymerase Chain Reaction ; Urinary Bladder ; Urinary Bladder Neoplasms

The Her-2/neu protooncogene encodes a transmembrane tyrosine kinase that is structurally homologous to the receptor for epidermal growth factor. Its amplification and overexpression are associated with poor prognosis in breast cancer patients. Neu differentiation factor is a ligand for Her-2/neu protooncogene and was detected in ras-transformed rat fibroblasts. Heregulin (human homologue of neu differentiation factor) is a 44-kilodalton glycoprotein that stimulates tyrosine phosphorylation and induces growth arrest or stimulation and differentiation in human breast cancer cell lines. In this study we examined the expression of heregulin mRNA by nested reverse transcription (RT) PCR with fresh tissue, Her-2/neu protein, ICAM-1 and steroid receptors by immunohistochemistry, and DNA ploidy pattern by flow cytometry with paraffin-embedded tissue in invasive breast carcinoma. We compared the data with nodal status, lymphovascular invasion, steroid receptor status and DNA ploidy pattern. For RT-PCR to heregulin mRNA, 38 cases of fresh breast cancer tissue were obtained. Total 68 cases of invasive breast carcinoma tissue were fixed in formalin, which were used for routine histology, immunohistochemistry and flow cytometry. The results are as follows; 1) Heregulin mRNA was expressed in 86.1% of patients with invasive breast carcinoma and 100% of patients with benign breast lesion using nested RT-PCR analysis. 2) Her-2/neu protein was overexpressed in 50.0% of tumors using immunohistochemistry. The expression of Her-2/neu protein was significantly correlated with high counts of lymph nodes with metastasis (p<0.05), and high nuclear grade (p<0.05). 3) Her-2/neu protein overexpression was significantly correlated with a high DNA index(p<0.05). All of the tumors showing Her-2/neu protein overexpression and no heregulin mRNA expression revealed near tetraploid DNA content. However, both Her-2/neu overexpression and heregulin mRNA expressing tumors revealed near tetraploidy in 38.9% and diploidy in 50.0%. Based on these results, heregulin mRNA expression rate was 86.1% in human invasive breast carcinoma. Her-2/neu protein overexpression is associated with high positive lymph node number and DNA index. Statistically significant reverse correlation with lymph node metastasis is not present.
Animals ; Breast Neoplasms* ; Breast* ; Cell Line ; Diploidy ; DNA* ; Epidermal Growth Factor ; Fibroblasts ; Flow Cytometry ; Formaldehyde ; Glycoproteins ; Humans* ; Immunohistochemistry ; Intercellular Adhesion Molecule-1 ; Lymph Nodes ; Neoplasm Metastasis* ; Neuregulin-1* ; Phosphorylation ; Ploidies* ; Polymerase Chain Reaction ; Prognosis ; Protein-Tyrosine Kinases ; Rats ; Receptors, Steroid ; Reverse Transcription ; RNA, Messenger* ; Tetraploidy ; Tyrosine

Canavan disease(CD) is a rare autosomal recessive leukodystrophy caused by the deficiency of aspartoacylase and the accumulation in brain of N-acetylaspartate(NAA). CD has been reported mainly Ashkenazi Jews but also occurs in other ethnic groups. Usually it presents as early as the third month of life with megalencephaly, hypotonia later progressing to hypertonia, psychomotor and mental retardation, blindness, occasionally deafness and seizure. Diagnosis is based on the clinical feature, N-acetylaspartic aciduria, radiologic and pathologic findings. Histologically, the affected white matter shows extensive vacuolation and demyelination. There is no treatment for CD and the only prevention is through genetic counselling and prenatal diagnosis. We experienced a case of Canavan disease that was presented with hypotonia and developmental delay. Diagnosis was confirmed histologically. Radiologic findings are extensive high signal throughout the white matter on T2-weighted MRI and increased NAA peak and decreased choline peak of the white matter on MR spectroscopy.
Blindness ; Brain ; Canavan Disease* ; Choline ; Deafness ; Demyelinating Diseases ; Diagnosis ; Ethnic Groups ; Humans ; Intellectual Disability ; Jews ; Magnetic Resonance Imaging ; Magnetic Resonance Spectroscopy ; Muscle Hypotonia ; Prenatal Diagnosis ; Seizures