Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0000737 (abdominal pain)
 31,184 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Symptomatic uterine lymphangioleiomyomatosis (LAM) simulating high-stage uterine sarcoma in a patient with tuberous sclerosis complex is reported. A 49-year-old female presented with abdominal pain and anemia. Preoperative workup revealed a uterine mass and a large amount of peritoneal free fluid and possible metastatic implant along the lateral edge of the liver. The patient also had a large right pleural effusion. A fungating anterior uterine fundal mass with apparent perforation and intraabdominal hemorrhage was found on laparotomy. A portion of the mass was excised and initially interpreted as an endometrial stromal sarcoma. Microscopic examination revealed multiple vascular epithelioid smooth muscle proliferations in the uterus and serosal surface of the fallopian tube and periaortic lymph node lymphangioleiomyomas. The uterine, fallopian tube, and nodal lesions were positive for smooth muscle actin, desmin, and HMB-45, findings characteristic of LAM. Additional examination of the patient revealed stigmata of tuberous sclerosis complex. Although uterine LAM is uncommon, it may be associated with pelvic and/or abdominal symptoms and may simulate a primary uterine mesenchymal neoplasm.
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PMID:Lymphangioleiomyomatosis of the uterus simulating high-stage endometrial stromal sarcoma. 894 80

Two case reports of hepatic angiomyolipoma, both originating in the caudate lobe, are reported with a review of the literature. The liver is the second most common site of angiomyolipoma, an uncommon benign tumor of mixed mesenchymal origin. It is commonly diagnosed following abdominal pain or as an asymptomatic mass discovered on abdominal ultrasound or computed tomography scan. Of 74 cases reported, the lesions ranged from 0.3 to 36 cm in diameter and are noted between the first and eighth decade, with predominant female predilection. The right lobe is the most common site, with lesions arising in the caudate lobe comprising only five cases. The natural history of the hepatic lesion is unknown. Malignant invasion or metastatic disease has not been documented. Hepatic and renal angiomyolipoma can occur concurrently (13 of 60 cases), although the majority are not biopsy proven. Multicentric hepatic disease occurs. The correlation between tuberous sclerosis and hepatic angiomyolipoma is not confirmed histologically and occurs rarely. These lesions have a characteristic radiographic appearance due to high fat content. Histologically, angiomyolipoma are characterized by an admixture of adipose tissue, blood vessels, and smooth muscle cells. These lesions cannot reliably be differentiated from a malignant lesion based on clinical history, radiologic examination, and/or pathologic interpretation. If clinical suspicion for malignancy is low, then careful observation with serial radiologic follow-up is performed. The treatment for a symptomatic or suspicious lesion is resection, if feasible. Liver transplantation may be considered for large or centrally located lesions not amenable to resection.
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PMID:Hepatic angiomyolipoma: two case reports of caudate-based lesions and review of the literature. 937 58

We presented a case of tuberous sclerosis (TS) associated with subependymal giant cell astrocytoma (SEGC) and renal angiomyolipoma (RAML). A 19-year-old female, who had been diagnosed as TS since she was 3 months old, was admitted with complaints of headache, vomiting, and abdominal pain. At 10 years of age, a ventricular tumor was shown on CT, and at 16 years of age a ventricular peritoneal shunt was placed for obstructive hydrocephalus. On admission, an abdominal CT showed bilateral renal huge multicystic tumors with hemorrhage, which were diagnosed as RAMLs. CT and MRI showed an intraventricular tumor near the foramen of Monro, and this tumor was removed through a transcortical approach. The pathological diagnosis was SEGA. Large sized RAMLs were identified by CT. Although TS is often associated with additional tumors in the brain, heart, kidney, and other organs, the combination of SEGA and RAML is quite rare. If ventricular peritoneal shunt is placed in a TS patient, risk of shunt malfunction should be taken into account.
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PMID:[Tuberous sclerosis associated with subependymal giant cell astrocytoma and renal angiomyolipoma: a case report]. 938 66

We report the clinicopathologic, immunohistochemical, ultrastructural, and genetic features of an unusual renal tumor composed of large, atypical, densely packed, clear/eosinophilic epithelioid cells. Three patients, two men and one woman (ages 31, 36, and 60 years of age, respectively), had abdominal pain. Morphologically, all cases showed aggressive features (largeness, atypical cells, sarcomatoid features, necrosis, and, in one case, invasion of the renal vein). Despite the marked morphologic resemblance of these tumors to high-grade sarcomatoid renal cell carcinoma, their phenotype (HMB45+, CD68+/-, actin+/-, and vimentin and keratin negative) is in contrast to that observed in epithelial tumors and parallels the phenotypic profile of angiomyolipoma. Ultrastructural analysis showed the presence of glycogen, mitochondria, and prominent electron-dense, membrane-bound granules in the neoplastic cells, and the absence of melanosomes or premelanosomes. Genetic study, performed using polymerase chain reaction from paraffin sections, showed a loss of heterozygosity at the TSC2-containing region on 16p in one case, and on 3p in two cases, showing that multiple genetic alterations are taking place in these tumors. Follow-up has shown local recurrence in one case after 6 years, and the patient died 1 year later of cardiorespiratory failure. The other two patients are well after 26 and 10 months. All three patients were evaluated for signs of tuberous sclerosis, and findings were negative. We suggest that these tumors should be considered close relatives of the angiomyolipoma variants, composed purely of perivascular epithelioid cells. More cases and longer follow-up durations are needed to fully evaluate its prognostic implication.
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PMID:Carcinomalike monotypic epithelioid angiomyolipoma in patients without evidence of tuberous sclerosis: a clinicopathologic and genetic study. 963 Jan 73

We report a 26 years old male with a tuberous sclerosis with multiple and bilateral kidney cysts and angiomyolipomas. The patient presented to the emergency room with a severe abdominal pain and anemia, secondary to a bleeding angiomyolipoma. The patient rejected blood transfusions due to his religious beliefs. A selective angiography was performed confirming diagnosis and the lesion artery was selectively embolized, stopping the bleeding immediately. The patient had a satisfactory evolution thereafter. This is a rare lesion and the fact that the patient was a Jehovah witness that rejected blood transfusions, required an innovative medical approach.
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PMID:[Hemorrhagic tuberous sclerosis. Report of a Jehovah Witness patient]. 1083 24

In three patients with persistent blood loss from bleeding or abnormal renal vessels, kidney function was preserved by treatment with selective embolisation. The first patient, a 42-year-old woman, suffered from persistent haematuria after undergoing percutaneous nephrolithotripsy on the left side. Because conservative methods had failed and renal artery bleeding as a result of the lithotripsy was suspected, angiography with selective coil embolisation of a segmental branch of the lower pole artery of the kidney was performed. The second patient, a 40-year-old man with severe haemophilia A had been suffering from recurring macroscopic haematuria for a few months. CT showed an arteriovenous malformation in the right kidney. Angiography in combination with embolisation with two detachable balloons resulted in occlusion of the malformation. The third patient, a 23-year-old woman with tuberous sclerosis, presented with left abdominal pain, haematuria and decreasing haemoglobin concentrations. CT revealed a left renal angiomyolipoma, 10 cm in size, with a large internal haematoma. Three pathological branches of the upper pole renal artery were successfully occluded with Gianturco coils. At follow-up after 2, 2.5 and 2.5 years respectively, no recurrence of bleeding had occurred. Selective embolisation should be attempted as means of treatment for persistent renal bleeding if conservative treatment fails. Selective embolisation is minimally invasive and has the important advantage of preserving renal function.
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PMID:[Persistent renal bleeding treated with selective vascular embolisation with preservation of renal function]. 1205 33

Tuberous sclerosis complex (TSC) is an autosomal-dominant neurocutaneous disorder involving the skin, brain, kidney, heart and other organs. Renal manifestations are mainly angiomyolipomas, renal cysts and cancer. We report three female patients, mean aged of 31 years (range: 22-37), with a family history of TSC in one case. Cutaneous and nervous symptoms were found in all patients. Clinical complaints were mainly abdominal pain (3 cases), hematuria (2 cases), right flank palpable mass (1 case). Angiomyolipomas (AML) were diagnosed by ultrasonography in all patients, associated to renal cysts in one case. A patient underwent total right nephrectomy without any event during the follow-up. In a second patient, a selective arterial embolization of AML was indicated. Total left nephrectomy was performed due to the persistence of hematuria and the increased flank mass. Pathological examination of the kidney revealed a clear cell carcinoma. The third patient with small AML, associated with renal cysts, required careful monitoring. Renal manifestations in TSC are frequent and serious, they are the second leading cause of death after nervous lesions. Clinical and morphological aspects are variable and different therapeutic indications must be discussed.
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PMID:Renal manifestations of tuberous sclerosis complex. 1459 16

In this study, we investigated HMB-45 expression in epithelioid uterine leiomyosarcomas with clear cell areas. From 12 epithelioid leiomyosarcomas, we selected 5 that had: 1) clear cell areas and 2) spindle cell areas that were at least focally positive for desmin and caldesmon. The patients' ages ranged from 47 to 82 years (mean 64 years). Presenting symptoms were uterine bleeding (three), abdominal pain (one), and a pelvic mass (one). There was no history of tuberous sclerosis or lymphangioleiomyomatosis. One patient had stage II disease, one stage III, and three stage IV. All were treated with total abdominal hysterectomy and bilateral salpingo-oophorectomy. Two received radiotherapy, and three were also treated with chemotherapy. The tumors ranged in size from 4 x 3 x 3 cm to 10 x 7 x 6 cm; all had significant cellular atypia, areas of coagulative necrosis, and between 10 and 90 mitoses per 10 high power fields. Vascular invasion was seen in three cases. The epithelioid component varied from 50% to 90% in each case; and the percentage of clear cells was < 1% in one case, 5% in one case, and 10% to 80% in three cases. Smooth muscle actin and desmin were positive in all cases. Four cases were positive for HMB-45 only in the clear cell areas. The tumor with < 1% of clear cells was negative for HMB-45. All were negative for S-100 and c-kit. Three patients died of disease at 9, 30, and 32 months; one patient is alive with progressive disease at 6 months, and one patient (stage II disease) is alive with no evidence of disease at 8 months. Unequivocal uterine epithelioid leiomyosarcomas may have clear cells positive for HMB-45. These tumors might belong to the group of lesion designated as PEComas; however, it is advisable to designate them as uterine leiomyosarcomas. In uterine smooth muscle tumors, some epithelioid cells most likely undergo clear cell changes and become positive for HMB-45. It would be advisable to perform this stain in all epithelioid smooth muscle tumors of the uterus.
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PMID:Uterine epithelioid leiomyosarcomas with clear cells: reactivity with HMB-45 and the concept of PEComa. 1504 15

It is possible to identify renal cysts in several subjects by ultrasonography imaging techniques. Among the inherited polycystic kidney diseases we include autosomal recessive polycystic kidney disease (ARPKD) and autosomal dominant polycystic diseases such as von Hippel-Lindau disease, tuberous sclerosis complex (TSC1 and TSC2), and autosomal dominant polycystic kidney disease (ADPKD). ARPKD is a rare disease, related to PKHD1 gene, located on chromosome 6p21, that encodes a protein named polyductin/fibrocystin. Pathoanatomical features are bilateral kidney involvement with multiple microcysts, and invariably liver involvement with portal and interlobular fibrosis. A single genetic defect leads to different degrees of renal and hepatic involvement with very different phenotypes and different clinical outcome, in the same family too. ARPKD clinically may show 4 different forms: perinatal, neonatal, infantile, and juvenile. ADPKD is much more frequent (1: 400-1000 live births), and can arise from mutations in 2 different genes, named PKD1 located on chromosome 16p13.3, and PKD2 located on chromosome 4q21-23. The proteins encoded by the PKD1 and PKD2 genes are named polycystins which play crucial roles in several biologic processes. To explain the focal lesions that affected different organs and tissues the "double hit" theory has been proposed (germinal mutation plus somatic mutation on PKD1 or PKD2). Recently, biologic evidence documented the crucial role of the renal primary cilia on the formation of polycystins to induce cystogenesis. ADPKD may be clinically characterized by abdominal pain, hypertension, episodes of gross hematuria, headache, renal stones, aortic and cerebral aneurysms, mitral valve prolapse, and polycystic liver disease. ADPKD is slowly progressive disease responsible for up 10% of end stage renal failure (ESRF) in every country of the world. Male sex, PKD1 gene, episodes of gross hematuria, and the precocity and severity of hypertension play an important role in the progression of renal disease to ESRF.
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PMID:Autosomal recessive and dominant polycystic kidney diseases. 1578 25

Caroli's disease is defined as a abnormal dilatation of the intra-hepatica bile ducts: Its incidence is extremely low (1 in 1,000,000 population) and in most of the cases the whole liver is interested and liver transplantation is the treatment of choice. In case of dilatation limited to the left or right lobe, liver resection can be performed. For many year the standard approach for liver resection has been a formal laparotomy by means of a large incision of abdomen that is characterized by significant post-operatie morbidity. More recently, minimally invasive, laparoscopic approach has been proposed as possible surgical technique for liver resection both for benign and malignant diseases. The main benefits of the minimally invasive approach is represented by a significant reduction of the surgical trauma that allows a faster recovery a less post-operative complications. This video shows a case of Caroli s disease occured in a 58 years old male admitted at the gastroenterology department for sudden onset of abdominal pain associated with fever (> 38 C degrees), nausea and shivering. Abdominal ultrasound demonstrated a significant dilatation of intra-hepatic left sited bile ducts with no evidences of gallbladder or common bile duct stones. Such findings were confirmed abdominal high resolution computer tomography. Laparoscopic left sectoriectomy was planned. Five trocars and 30 degrees optic was used, exploration of the abdominal cavity showed no adhesions or evidences of other diseases. In order to control blood inflow to the liver, vascular clamp was placed on the hepatic pedicle (Pringle s manouvre), Parenchymal division is carried out with a combined use of 5 mm bipolar forceps and 5 mm ultrasonic dissector. A severely dilated left hepatic duct was isolated and divided using a 45 mm endoscopic vascular stapler. Liver dissection was continued up to isolation of the main left portal branch that was then divided with a further cartridge of 45 mm vascular stapler. At his point the left liver remains attached only by the left hepatic vein: division of the triangular ligament was performed using monopolar hook and the hepatic vein isolated and the divided using vascular stapler. Haemostatis was refined by application of argon beam coagulation and no bleeding was revealed even after removal of the vascular clamp (total Pringle s time 27 minutes). Postoperative course was uneventful, minimal elevation of the liver function tests was recorded in post-operative day 1 but returned to normal at discharged on post-operative day 3.
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PMID:Laparoscopic left liver sectoriectomy of Caroli's disease limited to segment II and III. 1925 71


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