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Diagnosis of alpha-1-antitrypsin deficiency in bleeding disorder-related neonatal death.
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Alpha-1-antitrypsin (AAT) deficiency is a rare genetic disorder characterized by hepatitis in neonates, childhood and adulthood (protease inhibitor (PI)*ZZ) and emphysema with or without hepatitis (PI*ZZ)/(PI*SS,SZ or null) in adulthood. We report the case of a female neonate born at 40 weeks of
Collecting duct carcinoma exhibiting diastase-resistant PAS-positive globular cytoplasmic inclusions and rhabdoid features arising in adult polycystic kidney disease: a case report.
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A 76-year-old man complained of lumbago, and a subsequent detailed examination revealed a mass in the left kidney. Macroscopically, multiple cysts were recognized in the bilateral kidney; the tumor proliferated predominantly in the renal medulla and showed a whitish color with focal necrosis and
Intraductal acinar cell carcinoma of the pancreas.
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We describe a purely intraductal acinar cell carcinoma involving branch ducts of the pancreas in a 74-year-old man, which presented as recurrent episodes of acute pancreatitis. Endoscopic ultrasound examination revealed an intraductal mass bulging into the main pancreatic duct suggesting,
Thymomas with prominent signet ring cell-like features: a clinicopathologic and immunohistochemical study of 10 cases.
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Ten cases of an unusual growth pattern of thymomas are presented. The patients were 8 men and 2 women between the ages of 43 and 62 years. Clinically, 6 patients presented with symptoms of chest pain, cough, and shortness of breath, whereas 4 patients were asymptomatic. Surgical resection of the
Primary glycogen-rich clear cell squamous cell carcinoma of the mandibular gingiva.
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Clear cell squamous cell carcinoma (CCSCC) is a rare variant of squamous cell carcinoma, first reported by Kuo, who described 6 cases of squamous cell carcinoma of the skin of the head and neck. CCSCC is composed of cells with clear cytoplasm, which Kuo attributed to the accumulation of
Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of glycogen storage disease type IV associated with a new mutation in GBE1 gene.
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Glycogen storage disease type IV (GSD IV, or Andersen disease) is an autosomal recessive disorder due to the deficiency of 1,4-alpha-glucan branching enzyme (or glycogen branching enzyme, GBE1), resulting in an accumulation of amylopectin-like polysaccharide in muscle, liver, heart and central and
Solid and cystic acinar cell tumors of the pancreas. A report of two cases with immunohistochemical and ultrastructural studies.
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Two pancreatic tumors were found in young women without detectable functional symptoms. These tumors were identical in gross, histological and electron microscopic features. Each of them formed a large abdominal mass. One of them was found because of this abdominal mass, while the other was found
Alveolar soft-part sarcoma of the female genital tract: a report of nine cases and review of the literature.
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Nine alveolar soft-part sarcomas of the female genital tract (four previously reported) occurred in patients 14-38 (mean 29) years of age. The most common clinical presentation was abnormal uterine bleeding. Two tumors were located in the vagina, three in the cervix or lower uterine segment, three
Alveolar soft part sarcoma of the uterine cervix.
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A rare case of an alveolar soft part sarcoma of the uterine cervix in an 8 year old girl is presented. The patient was admitted because of genital bleeding lasting for 7 months. A polypoid tumor, 2 x 1.5 cm in diameter, was found in her external uterine os and was surgically resected.
Brown Bowel Syndrome: A Multi-institutional Case Series.
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Brown bowel syndrome (BBS) is a rare condition associated with vitamin E deficiency and defined by prominent lipofuscin deposition in the muscularis propria. Eight unique cases of BBS were identified: 5 men and 3 women (mean age=58.6 y). Pertinent comorbidities included bariatric surgery=2,
[A clinicopathological study of perianal Paget's disease associated with internal rectal adenocarcinoma].
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OBJECTIVE
To investigate the clinicopathological features and the immunohistochemical phenotype of perianal Paget's disease (PPD) associated with internal anorectal adenocarcinoma, with emphasis on the histogenesis of Paget's cells.
METHODS
The clinical and pathologic features of three cases of PPD
Granular cell tumor in a lumbar spinal nerve of a dog.
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A 2-year-old Great Dane dog with a 2.5-week history of progressive paraparesis was presented to the Veterinary Medical Teaching Hospital at the University of Wisconsin-Madison. Neurologic examination revealed nonambulatory paraparesis with reduced to absent withdrawal hind-limb reflexes and lumbar
A subacute epidural haematoma extending over the occipital region and posterior cranial fossa due to a laceration in the transverse sinus.
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A 6-year-old male was found dead on his stomach with massive reddish vomiting from his mouth and nose. Postmortem cranial CT revealed an epidural haematoma in the left occipital region, but the cause and origin of the haematoma were unclear. An autopsy revealed that the epidural haematoma expanded
Fine-needle aspiration cytology of an endometrioid-like variant of yolk sac tumor.
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A 36-year-old male with a history of immature teratoma and embryonal carcinoma of the testis was admitted to the hospital for abdominal pain and fever. A CT scan revealed a large right abdominal mass. The patient's serum alpha-fetoprotein (AFP) was 46.8 ng/ml (reference < 25 ng/ml). Fine-needle
Bladder exstrophy masquerading as a pelvic fracture.
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Bladder exstrophy-epispadias complex is a rare spectrum of congenital anomalies that includes a midline abdominal wall defect and a widened pelvis with an anterior diastasis. Our patient was involved in a motorcycle accident with severe multiple injuries and concomitant bladder extrophy. In a unique
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